Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3728836G>ACA493393703CREBBPc.6211C>T (p.Leu2071=)
c.6097C>T (p.Leu2033=)
c.6166C>T (p.Leu2056=)
c.5794C>T (p.Leu1932=)
c.5950C>T (p.Leu1984=)
c.6157C>T (p.Leu2053=)
c.5458C>T (p.Leu1820=)
c.6205C>T (p.Leu2069=)
 dbSNP gnomAD v4
16g.3728836G>CCA394553886CREBBPc.6211C>G (p.Leu2071Val)
c.6097C>G (p.Leu2033Val)
c.6166C>G (p.Leu2056Val)
c.5794C>G (p.Leu1932Val)
c.5950C>G (p.Leu1984Val)
c.6157C>G (p.Leu2053Val)
c.5458C>G (p.Leu1820Val)
c.6205C>G (p.Leu2069Val)
 dbSNP
16g.3728836G=CA2202928870CREBBPc.6211C= (p.Leu2071=)
c.6097C= (p.Leu2033=)
c.6166C= (p.Leu2056=)
c.5794C= (p.Leu1932=)
c.5950C= (p.Leu1984=)
c.6157C= (p.Leu2053=)
c.5458C= (p.Leu1820=)
c.6205C= (p.Leu2069=)
16g.3728836G>TCA7869159CREBBPc.6211C>A (p.Leu2071Met)
c.6097C>A (p.Leu2033Met)
c.6166C>A (p.Leu2056Met)
c.5794C>A (p.Leu1932Met)
c.5950C>A (p.Leu1984Met)
c.6157C>A (p.Leu2053Met)
c.5458C>A (p.Leu1820Met)
c.6205C>A (p.Leu2069Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728837C>ACA493393705CREBBPc.6210G>T (p.Leu2070=)
c.6096G>T (p.Leu2032=)
c.6165G>T (p.Leu2055=)
c.5793G>T (p.Leu1931=)
c.5949G>T (p.Leu1983=)
c.6156G>T (p.Leu2052=)
c.5457G>T (p.Leu1819=)
c.6204G>T (p.Leu2068=)
16g.3728837C>GCA493393706CREBBPc.6210G>C (p.Leu2070=)
c.6096G>C (p.Leu2032=)
c.6165G>C (p.Leu2055=)
c.5793G>C (p.Leu1931=)
c.5949G>C (p.Leu1983=)
c.6156G>C (p.Leu2052=)
c.5457G>C (p.Leu1819=)
c.6204G>C (p.Leu2068=)
16g.3728837C>TCA493393707CREBBPc.6210G>A (p.Leu2070=)
c.6096G>A (p.Leu2032=)
c.6165G>A (p.Leu2055=)
c.5793G>A (p.Leu1931=)
c.5949G>A (p.Leu1983=)
c.6156G>A (p.Leu2052=)
c.5457G>A (p.Leu1819=)
c.6204G>A (p.Leu2068=)
 dbSNP gnomAD v4
16g.3728838A>CCA394553887CREBBPc.6209T>G (p.Leu2070Arg)
c.6095T>G (p.Leu2032Arg)
c.6164T>G (p.Leu2055Arg)
c.5792T>G (p.Leu1931Arg)
c.5948T>G (p.Leu1983Arg)
c.6155T>G (p.Leu2052Arg)
c.5456T>G (p.Leu1819Arg)
c.6203T>G (p.Leu2068Arg)
16g.3728838A>GCA394553888CREBBPc.6209T>C (p.Leu2070Pro)
c.6095T>C (p.Leu2032Pro)
c.6164T>C (p.Leu2055Pro)
c.5792T>C (p.Leu1931Pro)
c.5948T>C (p.Leu1983Pro)
c.6155T>C (p.Leu2052Pro)
c.5456T>C (p.Leu1819Pro)
c.6203T>C (p.Leu2068Pro)
 dbSNP
16g.3728838A>TCA394553889CREBBPc.6209T>A (p.Leu2070Gln)
c.6095T>A (p.Leu2032Gln)
c.6164T>A (p.Leu2055Gln)
c.5792T>A (p.Leu1931Gln)
c.5948T>A (p.Leu1983Gln)
c.6155T>A (p.Leu2052Gln)
c.5456T>A (p.Leu1819Gln)
c.6203T>A (p.Leu2068Gln)
 dbSNP
16g.3728839G>ACA493393708CREBBPc.6208C>T (p.Leu2070=)
c.6094C>T (p.Leu2032=)
c.6163C>T (p.Leu2055=)
c.5791C>T (p.Leu1931=)
c.5947C>T (p.Leu1983=)
c.6154C>T (p.Leu2052=)
c.5455C>T (p.Leu1819=)
c.6202C>T (p.Leu2068=)
 dbSNP gnomAD v4
16g.3728839G>CCA394553890CREBBPc.6208C>G (p.Leu2070Val)
c.6094C>G (p.Leu2032Val)
c.6163C>G (p.Leu2055Val)
c.5791C>G (p.Leu1931Val)
c.5947C>G (p.Leu1983Val)
c.6154C>G (p.Leu2052Val)
c.5455C>G (p.Leu1819Val)
c.6202C>G (p.Leu2068Val)
 dbSNP
16g.3728839G=CA2202928871CREBBPc.6208C= (p.Leu2070=)
c.6094C= (p.Leu2032=)
c.6163C= (p.Leu2055=)
c.5791C= (p.Leu1931=)
c.5947C= (p.Leu1983=)
c.6154C= (p.Leu2052=)
c.5455C= (p.Leu1819=)
c.6202C= (p.Leu2068=)
16g.3728839G>TCA394553891CREBBPc.6208C>A (p.Leu2070Met)
c.6094C>A (p.Leu2032Met)
c.6163C>A (p.Leu2055Met)
c.5791C>A (p.Leu1931Met)
c.5947C>A (p.Leu1983Met)
c.6154C>A (p.Leu2052Met)
c.5455C>A (p.Leu1819Met)
c.6202C>A (p.Leu2068Met)
16g.3728840G>ACA7869160CREBBPc.6207C>T (p.Asp2069=)
c.6093C>T (p.Asp2031=)
c.6162C>T (p.Asp2054=)
c.5790C>T (p.Asp1930=)
c.5946C>T (p.Asp1982=)
c.6153C>T (p.Asp2051=)
c.5454C>T (p.Asp1818=)
c.6201C>T (p.Asp2067=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728840G>CCA394553893CREBBPc.6207C>G (p.Asp2069Glu)
c.6093C>G (p.Asp2031Glu)
c.6162C>G (p.Asp2054Glu)
c.5790C>G (p.Asp1930Glu)
c.5946C>G (p.Asp1982Glu)
c.6153C>G (p.Asp2051Glu)
c.5454C>G (p.Asp1818Glu)
c.6201C>G (p.Asp2067Glu)
16g.3728840G=CA2202928872CREBBPc.6207C= (p.Asp2069=)
c.6093C= (p.Asp2031=)
c.6162C= (p.Asp2054=)
c.5790C= (p.Asp1930=)
c.5946C= (p.Asp1982=)
c.6153C= (p.Asp2051=)
c.5454C= (p.Asp1818=)
c.6201C= (p.Asp2067=)
16g.3728840G>TCA394553892CREBBPc.6207C>A (p.Asp2069Glu)
c.6093C>A (p.Asp2031Glu)
c.6162C>A (p.Asp2054Glu)
c.5790C>A (p.Asp1930Glu)
c.5946C>A (p.Asp1982Glu)
c.6153C>A (p.Asp2051Glu)
c.5454C>A (p.Asp1818Glu)
c.6201C>A (p.Asp2067Glu)
16g.3728841T>ACA394553894CREBBPc.6206A>T (p.Asp2069Val)
c.6092A>T (p.Asp2031Val)
c.6161A>T (p.Asp2054Val)
c.5789A>T (p.Asp1930Val)
c.5945A>T (p.Asp1982Val)
c.6152A>T (p.Asp2051Val)
c.5453A>T (p.Asp1818Val)
c.6200A>T (p.Asp2067Val)
 dbSNP
16g.3728841T>CCA394553896CREBBPc.6206A>G (p.Asp2069Gly)
c.6092A>G (p.Asp2031Gly)
c.6161A>G (p.Asp2054Gly)
c.5789A>G (p.Asp1930Gly)
c.5945A>G (p.Asp1982Gly)
c.6152A>G (p.Asp2051Gly)
c.5453A>G (p.Asp1818Gly)
c.6200A>G (p.Asp2067Gly)
 dbSNP
16g.3728841T>GCA394553895CREBBPc.6206A>C (p.Asp2069Ala)
c.6092A>C (p.Asp2031Ala)
c.6161A>C (p.Asp2054Ala)
c.5789A>C (p.Asp1930Ala)
c.5945A>C (p.Asp1982Ala)
c.6152A>C (p.Asp2051Ala)
c.5453A>C (p.Asp1818Ala)
c.6200A>C (p.Asp2067Ala)
 dbSNP
16g.3728842C>ACA394553897CREBBPc.6205G>T (p.Asp2069Tyr)
c.6091G>T (p.Asp2031Tyr)
c.6160G>T (p.Asp2054Tyr)
c.5788G>T (p.Asp1930Tyr)
c.5944G>T (p.Asp1982Tyr)
c.6151G>T (p.Asp2051Tyr)
c.5452G>T (p.Asp1818Tyr)
c.6199G>T (p.Asp2067Tyr)
16g.3728842C>GCA394553898CREBBPc.6205G>C (p.Asp2069His)
c.6091G>C (p.Asp2031His)
c.6160G>C (p.Asp2054His)
c.5788G>C (p.Asp1930His)
c.5944G>C (p.Asp1982His)
c.6151G>C (p.Asp2051His)
c.5452G>C (p.Asp1818His)
c.6199G>C (p.Asp2067His)
16g.3728842C>TCA394553899CREBBPc.6205G>A (p.Asp2069Asn)
c.6091G>A (p.Asp2031Asn)
c.6160G>A (p.Asp2054Asn)
c.5788G>A (p.Asp1930Asn)
c.5944G>A (p.Asp1982Asn)
c.6151G>A (p.Asp2051Asn)
c.5452G>A (p.Asp1818Asn)
c.6199G>A (p.Asp2067Asn)
 gnomAD v4
16g.3728843T>ACA394553900CREBBPc.6204A>T (p.Gln2068His)
c.6090A>T (p.Gln2030His)
c.6159A>T (p.Gln2053His)
c.5787A>T (p.Gln1929His)
c.5943A>T (p.Gln1981His)
c.6150A>T (p.Gln2050His)
c.5451A>T (p.Gln1817His)
c.6198A>T (p.Gln2066His)
 dbSNP
16g.3728843T>CCA493393710CREBBPc.6204A>G (p.Gln2068=)
c.6090A>G (p.Gln2030=)
c.6159A>G (p.Gln2053=)
c.5787A>G (p.Gln1929=)
c.5943A>G (p.Gln1981=)
c.6150A>G (p.Gln2050=)
c.5451A>G (p.Gln1817=)
c.6198A>G (p.Gln2066=)
 dbSNP gnomAD v4
16g.3728843T>GCA394553901CREBBPc.6204A>C (p.Gln2068His)
c.6090A>C (p.Gln2030His)
c.6159A>C (p.Gln2053His)
c.5787A>C (p.Gln1929His)
c.5943A>C (p.Gln1981His)
c.6150A>C (p.Gln2050His)
c.5451A>C (p.Gln1817His)
c.6198A>C (p.Gln2066His)
16g.3728844T>ACA394553902CREBBPc.6203A>T (p.Gln2068Leu)
c.6089A>T (p.Gln2030Leu)
c.6158A>T (p.Gln2053Leu)
c.5786A>T (p.Gln1929Leu)
c.5942A>T (p.Gln1981Leu)
c.6149A>T (p.Gln2050Leu)
c.5450A>T (p.Gln1817Leu)
c.6197A>T (p.Gln2066Leu)
 dbSNP
16g.3728844T>CCA394553903CREBBPc.6203A>G (p.Gln2068Arg)
c.6089A>G (p.Gln2030Arg)
c.6158A>G (p.Gln2053Arg)
c.5786A>G (p.Gln1929Arg)
c.5942A>G (p.Gln1981Arg)
c.6149A>G (p.Gln2050Arg)
c.5450A>G (p.Gln1817Arg)
c.6197A>G (p.Gln2066Arg)
16g.3728844T>GCA394553904CREBBPc.6203A>C (p.Gln2068Pro)
c.6089A>C (p.Gln2030Pro)
c.6158A>C (p.Gln2053Pro)
c.5786A>C (p.Gln1929Pro)
c.5942A>C (p.Gln1981Pro)
c.6149A>C (p.Gln2050Pro)
c.5450A>C (p.Gln1817Pro)
c.6197A>C (p.Gln2066Pro)
 dbSNP
16g.3728845G>ACA394553905CREBBPc.6202C>T (p.Gln2068Ter)
c.6088C>T (p.Gln2030Ter)
c.6157C>T (p.Gln2053Ter)
c.5785C>T (p.Gln1929Ter)
c.5941C>T (p.Gln1981Ter)
c.6148C>T (p.Gln2050Ter)
c.5449C>T (p.Gln1817Ter)
c.6196C>T (p.Gln2066Ter)
 dbSNP
16g.3728845G>CCA394553906CREBBPc.6202C>G (p.Gln2068Glu)
c.6088C>G (p.Gln2030Glu)
c.6157C>G (p.Gln2053Glu)
c.5785C>G (p.Gln1929Glu)
c.5941C>G (p.Gln1981Glu)
c.6148C>G (p.Gln2050Glu)
c.5449C>G (p.Gln1817Glu)
c.6196C>G (p.Gln2066Glu)
 dbSNP
16g.3728845G>TCA394553907CREBBPc.6202C>A (p.Gln2068Lys)
c.6088C>A (p.Gln2030Lys)
c.6157C>A (p.Gln2053Lys)
c.5785C>A (p.Gln1929Lys)
c.5941C>A (p.Gln1981Lys)
c.6148C>A (p.Gln2050Lys)
c.5449C>A (p.Gln1817Lys)
c.6196C>A (p.Gln2066Lys)
 dbSNP gnomAD v4
16g.3728846C>ACA493393711CREBBPc.6201G>T (p.Leu2067=)
c.6087G>T (p.Leu2029=)
c.6156G>T (p.Leu2052=)
c.5784G>T (p.Leu1928=)
c.5940G>T (p.Leu1980=)
c.6147G>T (p.Leu2049=)
c.5448G>T (p.Leu1816=)
c.6195G>T (p.Leu2065=)
16g.3728846C=CA2202928873CREBBPc.6201G= (p.Leu2067=)
c.6087G= (p.Leu2029=)
c.6156G= (p.Leu2052=)
c.5784G= (p.Leu1928=)
c.5940G= (p.Leu1980=)
c.6147G= (p.Leu2049=)
c.5448G= (p.Leu1816=)
c.6195G= (p.Leu2065=)
16g.3728846C>GCA493393713CREBBPc.6201G>C (p.Leu2067=)
c.6087G>C (p.Leu2029=)
c.6156G>C (p.Leu2052=)
c.5784G>C (p.Leu1928=)
c.5940G>C (p.Leu1980=)
c.6147G>C (p.Leu2049=)
c.5448G>C (p.Leu1816=)
c.6195G>C (p.Leu2065=)
 dbSNP
16g.3728846C>TCA493393712CREBBPc.6201G>A (p.Leu2067=)
c.6087G>A (p.Leu2029=)
c.6156G>A (p.Leu2052=)
c.5784G>A (p.Leu1928=)
c.5940G>A (p.Leu1980=)
c.6147G>A (p.Leu2049=)
c.5448G>A (p.Leu1816=)
c.6195G>A (p.Leu2065=)
 gnomAD v4
16g.3728847A=CA2202928874CREBBPc.6200T= (p.Leu2067=)
c.6086T= (p.Leu2029=)
c.6155T= (p.Leu2052=)
c.5783T= (p.Leu1928=)
c.5939T= (p.Leu1980=)
c.6146T= (p.Leu2049=)
c.5447T= (p.Leu1816=)
c.6194T= (p.Leu2065=)
16g.3728847A>CCA394553910CREBBPc.6200T>G (p.Leu2067Arg)
c.6086T>G (p.Leu2029Arg)
c.6155T>G (p.Leu2052Arg)
c.5783T>G (p.Leu1928Arg)
c.5939T>G (p.Leu1980Arg)
c.6146T>G (p.Leu2049Arg)
c.5447T>G (p.Leu1816Arg)
c.6194T>G (p.Leu2065Arg)
 dbSNP
16g.3728847A>GCA394553909CREBBPc.6200T>C (p.Leu2067Pro)
c.6086T>C (p.Leu2029Pro)
c.6155T>C (p.Leu2052Pro)
c.5783T>C (p.Leu1928Pro)
c.5939T>C (p.Leu1980Pro)
c.6146T>C (p.Leu2049Pro)
c.5447T>C (p.Leu1816Pro)
c.6194T>C (p.Leu2065Pro)
 dbSNP
16g.3728847A>TCA394553908CREBBPc.6200T>A (p.Leu2067Gln)
c.6086T>A (p.Leu2029Gln)
c.6155T>A (p.Leu2052Gln)
c.5783T>A (p.Leu1928Gln)
c.5939T>A (p.Leu1980Gln)
c.6146T>A (p.Leu2049Gln)
c.5447T>A (p.Leu1816Gln)
c.6194T>A (p.Leu2065Gln)
 dbSNP
16g.3728848G>ACA493393714CREBBPc.6199C>T (p.Leu2067=)
c.6085C>T (p.Leu2029=)
c.6154C>T (p.Leu2052=)
c.5782C>T (p.Leu1928=)
c.5938C>T (p.Leu1980=)
c.6145C>T (p.Leu2049=)
c.5446C>T (p.Leu1816=)
c.6193C>T (p.Leu2065=)
 dbSNP gnomAD v2
16g.3728848G>CCA394553911CREBBPc.6199C>G (p.Leu2067Val)
c.6085C>G (p.Leu2029Val)
c.6154C>G (p.Leu2052Val)
c.5782C>G (p.Leu1928Val)
c.5938C>G (p.Leu1980Val)
c.6145C>G (p.Leu2049Val)
c.5446C>G (p.Leu1816Val)
c.6193C>G (p.Leu2065Val)
 dbSNP gnomAD v2 gnomAD v4
16g.3728848G=CA2202928875CREBBPc.6199C= (p.Leu2067=)
c.6085C= (p.Leu2029=)
c.6154C= (p.Leu2052=)
c.5782C= (p.Leu1928=)
c.5938C= (p.Leu1980=)
c.6145C= (p.Leu2049=)
c.5446C= (p.Leu1816=)
c.6193C= (p.Leu2065=)
16g.3728848G>TCA394553912CREBBPc.6199C>A (p.Leu2067Met)
c.6085C>A (p.Leu2029Met)
c.6154C>A (p.Leu2052Met)
c.5782C>A (p.Leu1928Met)
c.5938C>A (p.Leu1980Met)
c.6145C>A (p.Leu2049Met)
c.5446C>A (p.Leu1816Met)
c.6193C>A (p.Leu2065Met)
16g.3728849_3728855dupCA645369671CREBBPc.6193_6199dup (p.Leu2067GlnfsTer?)
c.6079_6085dup (p.Leu2029GlnfsTer?)
c.6148_6154dup (p.Leu2052GlnfsTer?)
c.5776_5782dup (p.Leu1928GlnfsTer?)
c.5932_5938dup (p.Leu1980GlnfsTer?)
c.6139_6145dup (p.Leu2049GlnfsTer?)
c.5440_5446dup (p.Leu1816GlnfsTer?)
c.6187_6193dup (p.Leu2065GlnfsTer?)
 ClinVar dbSNP
16g.3728849A>CCA493393716CREBBPc.6198T>G (p.Ala2066=)
c.6084T>G (p.Ala2028=)
c.6153T>G (p.Ala2051=)
c.5781T>G (p.Ala1927=)
c.5937T>G (p.Ala1979=)
c.6144T>G (p.Ala2048=)
c.5445T>G (p.Ala1815=)
c.6192T>G (p.Ala2064=)
16g.3728849A>GCA493393717CREBBPc.6198T>C (p.Ala2066=)
c.6084T>C (p.Ala2028=)
c.6153T>C (p.Ala2051=)
c.5781T>C (p.Ala1927=)
c.5937T>C (p.Ala1979=)
c.6144T>C (p.Ala2048=)
c.5445T>C (p.Ala1815=)
c.6192T>C (p.Ala2064=)
 dbSNP
16g.3728849A>TCA493393718CREBBPc.6198T>A (p.Ala2066=)
c.6084T>A (p.Ala2028=)
c.6153T>A (p.Ala2051=)
c.5781T>A (p.Ala1927=)
c.5937T>A (p.Ala1979=)
c.6144T>A (p.Ala2048=)
c.5445T>A (p.Ala1815=)
c.6192T>A (p.Ala2064=)
 dbSNP
16g.3728850G>ACA394553913CREBBPc.6197C>T (p.Ala2066Val)
c.6083C>T (p.Ala2028Val)
c.6152C>T (p.Ala2051Val)
c.5780C>T (p.Ala1927Val)
c.5936C>T (p.Ala1979Val)
c.6143C>T (p.Ala2048Val)
c.5444C>T (p.Ala1815Val)
c.6191C>T (p.Ala2064Val)
 dbSNP
16g.3728850G>CCA394553914CREBBPc.6197C>G (p.Ala2066Gly)
c.6083C>G (p.Ala2028Gly)
c.6152C>G (p.Ala2051Gly)
c.5780C>G (p.Ala1927Gly)
c.5936C>G (p.Ala1979Gly)
c.6143C>G (p.Ala2048Gly)
c.5444C>G (p.Ala1815Gly)
c.6191C>G (p.Ala2064Gly)
 dbSNP
16g.3728850G>TCA394553915CREBBPc.6197C>A (p.Ala2066Asp)
c.6083C>A (p.Ala2028Asp)
c.6152C>A (p.Ala2051Asp)
c.5780C>A (p.Ala1927Asp)
c.5936C>A (p.Ala1979Asp)
c.6143C>A (p.Ala2048Asp)
c.5444C>A (p.Ala1815Asp)
c.6191C>A (p.Ala2064Asp)
16g.3728851C>ACA394553916CREBBPc.6196G>T (p.Ala2066Ser)
c.6082G>T (p.Ala2028Ser)
c.6151G>T (p.Ala2051Ser)
c.5779G>T (p.Ala1927Ser)
c.5935G>T (p.Ala1979Ser)
c.6142G>T (p.Ala2048Ser)
c.5443G>T (p.Ala1815Ser)
c.6190G>T (p.Ala2064Ser)
 dbSNP
16g.3728851C=CA2202928877CREBBPc.6196G= (p.Ala2066=)
c.6082G= (p.Ala2028=)
c.6151G= (p.Ala2051=)
c.5779G= (p.Ala1927=)
c.5935G= (p.Ala1979=)
c.6142G= (p.Ala2048=)
c.5443G= (p.Ala1815=)
c.6190G= (p.Ala2064=)
16g.3728851C>GCA394553917CREBBPc.6196G>C (p.Ala2066Pro)
c.6082G>C (p.Ala2028Pro)
c.6151G>C (p.Ala2051Pro)
c.5779G>C (p.Ala1927Pro)
c.5935G>C (p.Ala1979Pro)
c.6142G>C (p.Ala2048Pro)
c.5443G>C (p.Ala1815Pro)
c.6190G>C (p.Ala2064Pro)
 dbSNP
16g.3728851C>TCA394553918CREBBPc.6196G>A (p.Ala2066Thr)
c.6082G>A (p.Ala2028Thr)
c.6151G>A (p.Ala2051Thr)
c.5779G>A (p.Ala1927Thr)
c.5935G>A (p.Ala1979Thr)
c.6142G>A (p.Ala2048Thr)
c.5443G>A (p.Ala1815Thr)
c.6190G>A (p.Ala2064Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.3728851_3728862delinsCGCTGGGTGAGACA2202928876CREBBPc.6185_6196delinsTCTCACCCAGCG (p.Ile2062=)
c.6071_6082delinsTCTCACCCAGCG (p.Ile2024=)
c.6140_6151delinsTCTCACCCAGCG (p.Ile2047=)
c.5768_5779delinsTCTCACCCAGCG (p.Ile1923=)
c.5924_5935delinsTCTCACCCAGCG (p.Ile1975=)
c.6131_6142delinsTCTCACCCAGCG (p.Ile2044=)
c.5432_5443delinsTCTCACCCAGCG (p.Ile1811=)
c.6179_6190delinsTCTCACCCAGCG (p.Ile2060=)
16g.3728852G>ACA7869161CREBBPc.6195C>T (p.Ser2065=)
c.6081C>T (p.Ser2027=)
c.6150C>T (p.Ser2050=)
c.5778C>T (p.Ser1926=)
c.5934C>T (p.Ser1978=)
c.6141C>T (p.Ser2047=)
c.5442C>T (p.Ser1814=)
c.6189C>T (p.Ser2063=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728852G>CCA7869162CREBBPc.6195C>G (p.Ser2065Arg)
c.6081C>G (p.Ser2027Arg)
c.6150C>G (p.Ser2050Arg)
c.5778C>G (p.Ser1926Arg)
c.5934C>G (p.Ser1978Arg)
c.6141C>G (p.Ser2047Arg)
c.5442C>G (p.Ser1814Arg)
c.6189C>G (p.Ser2063Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728852G=CA2202928878CREBBPc.6195C= (p.Ser2065=)
c.6081C= (p.Ser2027=)
c.6150C= (p.Ser2050=)
c.5778C= (p.Ser1926=)
c.5934C= (p.Ser1978=)
c.6141C= (p.Ser2047=)
c.5442C= (p.Ser1814=)
c.6189C= (p.Ser2063=)
16g.3728852G>TCA394553919CREBBPc.6195C>A (p.Ser2065Arg)
c.6081C>A (p.Ser2027Arg)
c.6150C>A (p.Ser2050Arg)
c.5778C>A (p.Ser1926Arg)
c.5934C>A (p.Ser1978Arg)
c.6141C>A (p.Ser2047Arg)
c.5442C>A (p.Ser1814Arg)
c.6189C>A (p.Ser2063Arg)
 ClinVar dbSNP gnomAD v4
16g.3728852_3728862delCA658798525CREBBPc.6185_6195del (p.Ile2062SerfsTer?)
c.6071_6081del (p.Ile2024SerfsTer?)
c.6140_6150del (p.Ile2047SerfsTer?)
c.5768_5778del (p.Ile1923SerfsTer?)
c.5924_5934del (p.Ile1975SerfsTer?)
c.6131_6141del (p.Ile2044SerfsTer?)
c.5432_5442del (p.Ile1811SerfsTer?)
c.6179_6189del (p.Ile2060SerfsTer?)
 ClinVar dbSNP
16g.3728853C>ACA394553922CREBBPc.6194G>T (p.Ser2065Ile)
c.6080G>T (p.Ser2027Ile)
c.6149G>T (p.Ser2050Ile)
c.5777G>T (p.Ser1926Ile)
c.5933G>T (p.Ser1978Ile)
c.6140G>T (p.Ser2047Ile)
c.5441G>T (p.Ser1814Ile)
c.6188G>T (p.Ser2063Ile)
 dbSNP
16g.3728853C>GCA394553921CREBBPc.6194G>C (p.Ser2065Thr)
c.6080G>C (p.Ser2027Thr)
c.6149G>C (p.Ser2050Thr)
c.5777G>C (p.Ser1926Thr)
c.5933G>C (p.Ser1978Thr)
c.6140G>C (p.Ser2047Thr)
c.5441G>C (p.Ser1814Thr)
c.6188G>C (p.Ser2063Thr)
 dbSNP
16g.3728853C>TCA394553920CREBBPc.6194G>A (p.Ser2065Asn)
c.6080G>A (p.Ser2027Asn)
c.6149G>A (p.Ser2050Asn)
c.5777G>A (p.Ser1926Asn)
c.5933G>A (p.Ser1978Asn)
c.6140G>A (p.Ser2047Asn)
c.5441G>A (p.Ser1814Asn)
c.6188G>A (p.Ser2063Asn)
 dbSNP
16g.3728854T>ACA394553923CREBBPc.6193A>T (p.Ser2065Cys)
c.6079A>T (p.Ser2027Cys)
c.6148A>T (p.Ser2050Cys)
c.5776A>T (p.Ser1926Cys)
c.5932A>T (p.Ser1978Cys)
c.6139A>T (p.Ser2047Cys)
c.5440A>T (p.Ser1814Cys)
c.6187A>T (p.Ser2063Cys)
16g.3728854T>CCA394553924CREBBPc.6193A>G (p.Ser2065Gly)
c.6079A>G (p.Ser2027Gly)
c.6148A>G (p.Ser2050Gly)
c.5776A>G (p.Ser1926Gly)
c.5932A>G (p.Ser1978Gly)
c.6139A>G (p.Ser2047Gly)
c.5440A>G (p.Ser1814Gly)
c.6187A>G (p.Ser2063Gly)
16g.3728854T>GCA394553925CREBBPc.6193A>C (p.Ser2065Arg)
c.6079A>C (p.Ser2027Arg)
c.6148A>C (p.Ser2050Arg)
c.5776A>C (p.Ser1926Arg)
c.5932A>C (p.Ser1978Arg)
c.6139A>C (p.Ser2047Arg)
c.5440A>C (p.Ser1814Arg)
c.6187A>C (p.Ser2063Arg)
16g.3728855G>ACA493393723CREBBPc.6192C>T (p.Pro2064=)
c.6078C>T (p.Pro2026=)
c.6147C>T (p.Pro2049=)
c.5775C>T (p.Pro1925=)
c.5931C>T (p.Pro1977=)
c.6138C>T (p.Pro2046=)
c.5439C>T (p.Pro1813=)
c.6186C>T (p.Pro2062=)
 dbSNP
16g.3728855G>CCA493393724CREBBPc.6192C>G (p.Pro2064=)
c.6078C>G (p.Pro2026=)
c.6147C>G (p.Pro2049=)
c.5775C>G (p.Pro1925=)
c.5931C>G (p.Pro1977=)
c.6138C>G (p.Pro2046=)
c.5439C>G (p.Pro1813=)
c.6186C>G (p.Pro2062=)
 dbSNP
16g.3728855G>TCA493393725CREBBPc.6192C>A (p.Pro2064=)
c.6078C>A (p.Pro2026=)
c.6147C>A (p.Pro2049=)
c.5775C>A (p.Pro1925=)
c.5931C>A (p.Pro1977=)
c.6138C>A (p.Pro2046=)
c.5439C>A (p.Pro1813=)
c.6186C>A (p.Pro2062=)
 dbSNP
16g.3728857delCA2695222739CREBBPc.6192del (p.Ser2065AlafsTer10)
c.6078del (p.Ser2027AlafsTer10)
c.6147del (p.Ser2050AlafsTer10)
c.5775del (p.Ser1926AlafsTer10)
c.5931del (p.Ser1978AlafsTer10)
c.6138del (p.Ser2047AlafsTer10)
c.5439del (p.Ser1814AlafsTer10)
c.6186del (p.Ser2063AlafsTer10)
16g.3728856G>ACA394553926CREBBPc.6191C>T (p.Pro2064Leu)
c.6077C>T (p.Pro2026Leu)
c.6146C>T (p.Pro2049Leu)
c.5774C>T (p.Pro1925Leu)
c.5930C>T (p.Pro1977Leu)
c.6137C>T (p.Pro2046Leu)
c.5438C>T (p.Pro1813Leu)
c.6185C>T (p.Pro2062Leu)
 dbSNP
16g.3728856G>CCA394553927CREBBPc.6191C>G (p.Pro2064Arg)
c.6077C>G (p.Pro2026Arg)
c.6146C>G (p.Pro2049Arg)
c.5774C>G (p.Pro1925Arg)
c.5930C>G (p.Pro1977Arg)
c.6137C>G (p.Pro2046Arg)
c.5438C>G (p.Pro1813Arg)
c.6185C>G (p.Pro2062Arg)
 dbSNP
16g.3728856G>TCA394553928CREBBPc.6191C>A (p.Pro2064His)
c.6077C>A (p.Pro2026His)
c.6146C>A (p.Pro2049His)
c.5774C>A (p.Pro1925His)
c.5930C>A (p.Pro1977His)
c.6137C>A (p.Pro2046His)
c.5438C>A (p.Pro1813His)
c.6185C>A (p.Pro2062His)
 dbSNP gnomAD v4
16g.3728857G>ACA394553929CREBBPc.6190C>T (p.Pro2064Ser)
c.6076C>T (p.Pro2026Ser)
c.6145C>T (p.Pro2049Ser)
c.5773C>T (p.Pro1925Ser)
c.5929C>T (p.Pro1977Ser)
c.6136C>T (p.Pro2046Ser)
c.5437C>T (p.Pro1813Ser)
c.6184C>T (p.Pro2062Ser)
 dbSNP
16g.3728857G>CCA394553930CREBBPc.6190C>G (p.Pro2064Ala)
c.6076C>G (p.Pro2026Ala)
c.6145C>G (p.Pro2049Ala)
c.5773C>G (p.Pro1925Ala)
c.5929C>G (p.Pro1977Ala)
c.6136C>G (p.Pro2046Ala)
c.5437C>G (p.Pro1813Ala)
c.6184C>G (p.Pro2062Ala)
 dbSNP
16g.3728857G=CA2202928879CREBBPc.6190C= (p.Pro2064=)
c.6076C= (p.Pro2026=)
c.6145C= (p.Pro2049=)
c.5773C= (p.Pro1925=)
c.5929C= (p.Pro1977=)
c.6136C= (p.Pro2046=)
c.5437C= (p.Pro1813=)
c.6184C= (p.Pro2062=)
16g.3728857G>TCA7869163CREBBPc.6190C>A (p.Pro2064Thr)
c.6076C>A (p.Pro2026Thr)
c.6145C>A (p.Pro2049Thr)
c.5773C>A (p.Pro1925Thr)
c.5929C>A (p.Pro1977Thr)
c.6136C>A (p.Pro2046Thr)
c.5437C>A (p.Pro1813Thr)
c.6184C>A (p.Pro2062Thr)
 dbSNP ExAC gnomAD v2
16g.3728858T>ACA493393729CREBBPc.6189A>T (p.Ser2063=)
c.6075A>T (p.Ser2025=)
c.6144A>T (p.Ser2048=)
c.5772A>T (p.Ser1924=)
c.5928A>T (p.Ser1976=)
c.6135A>T (p.Ser2045=)
c.5436A>T (p.Ser1812=)
c.6183A>T (p.Ser2061=)
 dbSNP
16g.3728858T>CCA493393730CREBBPc.6189A>G (p.Ser2063=)
c.6075A>G (p.Ser2025=)
c.6144A>G (p.Ser2048=)
c.5772A>G (p.Ser1924=)
c.5928A>G (p.Ser1976=)
c.6135A>G (p.Ser2045=)
c.5436A>G (p.Ser1812=)
c.6183A>G (p.Ser2061=)
 dbSNP
16g.3728858T>GCA493393731CREBBPc.6189A>C (p.Ser2063=)
c.6075A>C (p.Ser2025=)
c.6144A>C (p.Ser2048=)
c.5772A>C (p.Ser1924=)
c.5928A>C (p.Ser1976=)
c.6135A>C (p.Ser2045=)
c.5436A>C (p.Ser1812=)
c.6183A>C (p.Ser2061=)
 dbSNP
16g.3728859G>ACA394553931CREBBPc.6188C>T (p.Ser2063Leu)
c.6074C>T (p.Ser2025Leu)
c.6143C>T (p.Ser2048Leu)
c.5771C>T (p.Ser1924Leu)
c.5927C>T (p.Ser1976Leu)
c.6134C>T (p.Ser2045Leu)
c.5435C>T (p.Ser1812Leu)
c.6182C>T (p.Ser2061Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3728859G>CCA394553932CREBBPc.6188C>G (p.Ser2063Ter)
c.6074C>G (p.Ser2025Ter)
c.6143C>G (p.Ser2048Ter)
c.5771C>G (p.Ser1924Ter)
c.5927C>G (p.Ser1976Ter)
c.6134C>G (p.Ser2045Ter)
c.5435C>G (p.Ser1812Ter)
c.6182C>G (p.Ser2061Ter)
16g.3728859G=CA2202928880CREBBPc.6188C= (p.Ser2063=)
c.6074C= (p.Ser2025=)
c.6143C= (p.Ser2048=)
c.5771C= (p.Ser1924=)
c.5927C= (p.Ser1976=)
c.6134C= (p.Ser2045=)
c.5435C= (p.Ser1812=)
c.6182C= (p.Ser2061=)
16g.3728859G>TCA394553933CREBBPc.6188C>A (p.Ser2063Ter)
c.6074C>A (p.Ser2025Ter)
c.6143C>A (p.Ser2048Ter)
c.5771C>A (p.Ser1924Ter)
c.5927C>A (p.Ser1976Ter)
c.6134C>A (p.Ser2045Ter)
c.5435C>A (p.Ser1812Ter)
c.6182C>A (p.Ser2061Ter)
 gnomAD v4
16g.3728860A>CCA394553936CREBBPc.6187T>G (p.Ser2063Ala)
c.6073T>G (p.Ser2025Ala)
c.6142T>G (p.Ser2048Ala)
c.5770T>G (p.Ser1924Ala)
c.5926T>G (p.Ser1976Ala)
c.6133T>G (p.Ser2045Ala)
c.5434T>G (p.Ser1812Ala)
c.6181T>G (p.Ser2061Ala)
16g.3728860A>GCA394553935CREBBPc.6187T>C (p.Ser2063Pro)
c.6073T>C (p.Ser2025Pro)
c.6142T>C (p.Ser2048Pro)
c.5770T>C (p.Ser1924Pro)
c.5926T>C (p.Ser1976Pro)
c.6133T>C (p.Ser2045Pro)
c.5434T>C (p.Ser1812Pro)
c.6181T>C (p.Ser2061Pro)
 dbSNP
16g.3728860A>TCA394553934CREBBPc.6187T>A (p.Ser2063Thr)
c.6073T>A (p.Ser2025Thr)
c.6142T>A (p.Ser2048Thr)
c.5770T>A (p.Ser1924Thr)
c.5926T>A (p.Ser1976Thr)
c.6133T>A (p.Ser2045Thr)
c.5434T>A (p.Ser1812Thr)
c.6181T>A (p.Ser2061Thr)
 dbSNP
16g.3728861G>ACA7869164CREBBPc.6186C>T (p.Ile2062=)
c.6072C>T (p.Ile2024=)
c.6141C>T (p.Ile2047=)
c.5769C>T (p.Ile1923=)
c.5925C>T (p.Ile1975=)
c.6132C>T (p.Ile2044=)
c.5433C>T (p.Ile1811=)
c.6180C>T (p.Ile2060=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728861G>CCA394553937CREBBPc.6186C>G (p.Ile2062Met)
c.6072C>G (p.Ile2024Met)
c.6141C>G (p.Ile2047Met)
c.5769C>G (p.Ile1923Met)
c.5925C>G (p.Ile1975Met)
c.6132C>G (p.Ile2044Met)
c.5433C>G (p.Ile1811Met)
c.6180C>G (p.Ile2060Met)
 dbSNP
16g.3728861G=CA2202928881CREBBPc.6186C= (p.Ile2062=)
c.6072C= (p.Ile2024=)
c.6141C= (p.Ile2047=)
c.5769C= (p.Ile1923=)
c.5925C= (p.Ile1975=)
c.6132C= (p.Ile2044=)
c.5433C= (p.Ile1811=)
c.6180C= (p.Ile2060=)
16g.3728861G>TCA493393732CREBBPc.6186C>A (p.Ile2062=)
c.6072C>A (p.Ile2024=)
c.6141C>A (p.Ile2047=)
c.5769C>A (p.Ile1923=)
c.5925C>A (p.Ile1975=)
c.6132C>A (p.Ile2044=)
c.5433C>A (p.Ile1811=)
c.6180C>A (p.Ile2060=)
16g.3728862A=CA2202928882CREBBPc.6185T= (p.Ile2062=)
c.6071T= (p.Ile2024=)
c.6140T= (p.Ile2047=)
c.5768T= (p.Ile1923=)
c.5924T= (p.Ile1975=)
c.6131T= (p.Ile2044=)
c.5432T= (p.Ile1811=)
c.6179T= (p.Ile2060=)
16g.3728862A>CCA394553938CREBBPc.6185T>G (p.Ile2062Ser)
c.6071T>G (p.Ile2024Ser)
c.6140T>G (p.Ile2047Ser)
c.5768T>G (p.Ile1923Ser)
c.5924T>G (p.Ile1975Ser)
c.6131T>G (p.Ile2044Ser)
c.5432T>G (p.Ile1811Ser)
c.6179T>G (p.Ile2060Ser)
 dbSNP gnomAD v4
16g.3728862A>GCA394553939CREBBPc.6185T>C (p.Ile2062Thr)
c.6071T>C (p.Ile2024Thr)
c.6140T>C (p.Ile2047Thr)
c.5768T>C (p.Ile1923Thr)
c.5924T>C (p.Ile1975Thr)
c.6131T>C (p.Ile2044Thr)
c.5432T>C (p.Ile1811Thr)
c.6179T>C (p.Ile2060Thr)
16g.3728862A>TCA394553940CREBBPc.6185T>A (p.Ile2062Asn)
c.6071T>A (p.Ile2024Asn)
c.6140T>A (p.Ile2047Asn)
c.5768T>A (p.Ile1923Asn)
c.5924T>A (p.Ile1975Asn)
c.6131T>A (p.Ile2044Asn)
c.5432T>A (p.Ile1811Asn)
c.6179T>A (p.Ile2060Asn)
 dbSNP
16g.3728863T>ACA394553941CREBBPc.6184A>T (p.Ile2062Phe)
c.6070A>T (p.Ile2024Phe)
c.6139A>T (p.Ile2047Phe)
c.5767A>T (p.Ile1923Phe)
c.5923A>T (p.Ile1975Phe)
c.6130A>T (p.Ile2044Phe)
c.5431A>T (p.Ile1811Phe)
c.6178A>T (p.Ile2060Phe)
 dbSNP
16g.3728863T>CCA394553942CREBBPc.6184A>G (p.Ile2062Val)
c.6070A>G (p.Ile2024Val)
c.6139A>G (p.Ile2047Val)
c.5767A>G (p.Ile1923Val)
c.5923A>G (p.Ile1975Val)
c.6130A>G (p.Ile2044Val)
c.5431A>G (p.Ile1811Val)
c.6178A>G (p.Ile2060Val)
16g.3728863T>GCA394553943CREBBPc.6184A>C (p.Ile2062Leu)
c.6070A>C (p.Ile2024Leu)
c.6139A>C (p.Ile2047Leu)
c.5767A>C (p.Ile1923Leu)
c.5923A>C (p.Ile1975Leu)
c.6130A>C (p.Ile2044Leu)
c.5431A>C (p.Ile1811Leu)
c.6178A>C (p.Ile2060Leu)
 dbSNP
16g.3728864G>ACA493393734CREBBPc.6183C>T (p.Ser2061=)
c.6069C>T (p.Ser2023=)
c.6138C>T (p.Ser2046=)
c.5766C>T (p.Ser1922=)
c.5922C>T (p.Ser1974=)
c.6129C>T (p.Ser2043=)
c.5430C>T (p.Ser1810=)
c.6177C>T (p.Ser2059=)
 dbSNP gnomAD v4
16g.3728864G>CCA394553944CREBBPc.6183C>G (p.Ser2061Arg)
c.6069C>G (p.Ser2023Arg)
c.6138C>G (p.Ser2046Arg)
c.5766C>G (p.Ser1922Arg)
c.5922C>G (p.Ser1974Arg)
c.6129C>G (p.Ser2043Arg)
c.5430C>G (p.Ser1810Arg)
c.6177C>G (p.Ser2059Arg)
 dbSNP
16g.3728864G=CA2202928883CREBBPc.6183C= (p.Ser2061=)
c.6069C= (p.Ser2023=)
c.6138C= (p.Ser2046=)
c.5766C= (p.Ser1922=)
c.5922C= (p.Ser1974=)
c.6129C= (p.Ser2043=)
c.5430C= (p.Ser1810=)
c.6177C= (p.Ser2059=)
16g.3728864G>TCA394553945CREBBPc.6183C>A (p.Ser2061Arg)
c.6069C>A (p.Ser2023Arg)
c.6138C>A (p.Ser2046Arg)
c.5766C>A (p.Ser1922Arg)
c.5922C>A (p.Ser1974Arg)
c.6129C>A (p.Ser2043Arg)
c.5430C>A (p.Ser1810Arg)
c.6177C>A (p.Ser2059Arg)
 gnomAD v4
16g.3728865C>ACA394553946CREBBPc.6182G>T (p.Ser2061Ile)
c.6068G>T (p.Ser2023Ile)
c.6137G>T (p.Ser2046Ile)
c.5765G>T (p.Ser1922Ile)
c.5921G>T (p.Ser1974Ile)
c.6128G>T (p.Ser2043Ile)
c.5429G>T (p.Ser1810Ile)
c.6176G>T (p.Ser2059Ile)
16g.3728865C=CA2202928884CREBBPc.6182G= (p.Ser2061=)
c.6068G= (p.Ser2023=)
c.6137G= (p.Ser2046=)
c.5765G= (p.Ser1922=)
c.5921G= (p.Ser1974=)
c.6128G= (p.Ser2043=)
c.5429G= (p.Ser1810=)
c.6176G= (p.Ser2059=)
16g.3728865C>GCA394553947CREBBPc.6182G>C (p.Ser2061Thr)
c.6068G>C (p.Ser2023Thr)
c.6137G>C (p.Ser2046Thr)
c.5765G>C (p.Ser1922Thr)
c.5921G>C (p.Ser1974Thr)
c.6128G>C (p.Ser2043Thr)
c.5429G>C (p.Ser1810Thr)
c.6176G>C (p.Ser2059Thr)
 dbSNP
16g.3728865C>TCA394553948CREBBPc.6182G>A (p.Ser2061Asn)
c.6068G>A (p.Ser2023Asn)
c.6137G>A (p.Ser2046Asn)
c.5765G>A (p.Ser1922Asn)
c.5921G>A (p.Ser1974Asn)
c.6128G>A (p.Ser2043Asn)
c.5429G>A (p.Ser1810Asn)
c.6176G>A (p.Ser2059Asn)
 dbSNP gnomAD v2
16g.3728866T>ACA394553951CREBBPc.6181A>T (p.Ser2061Cys)
c.6067A>T (p.Ser2023Cys)
c.6136A>T (p.Ser2046Cys)
c.5764A>T (p.Ser1922Cys)
c.5920A>T (p.Ser1974Cys)
c.6127A>T (p.Ser2043Cys)
c.5428A>T (p.Ser1810Cys)
c.6175A>T (p.Ser2059Cys)
 dbSNP
16g.3728866T>CCA394553950CREBBPc.6181A>G (p.Ser2061Gly)
c.6067A>G (p.Ser2023Gly)
c.6136A>G (p.Ser2046Gly)
c.5764A>G (p.Ser1922Gly)
c.5920A>G (p.Ser1974Gly)
c.6127A>G (p.Ser2043Gly)
c.5428A>G (p.Ser1810Gly)
c.6175A>G (p.Ser2059Gly)
 dbSNP
16g.3728866T>GCA394553949CREBBPc.6181A>C (p.Ser2061Arg)
c.6067A>C (p.Ser2023Arg)
c.6136A>C (p.Ser2046Arg)
c.5764A>C (p.Ser1922Arg)
c.5920A>C (p.Ser1974Arg)
c.6127A>C (p.Ser2043Arg)
c.5428A>C (p.Ser1810Arg)
c.6175A>C (p.Ser2059Arg)
16g.3728867C>ACA394553953CREBBPc.6180G>T (p.Arg2060Ser)
c.6066G>T (p.Arg2022Ser)
c.6135G>T (p.Arg2045Ser)
c.5763G>T (p.Arg1921Ser)
c.5919G>T (p.Arg1973Ser)
c.6126G>T (p.Arg2042Ser)
c.5427G>T (p.Arg1809Ser)
c.6174G>T (p.Arg2058Ser)
 dbSNP
16g.3728867C>GCA394553952CREBBPc.6180G>C (p.Arg2060Ser)
c.6066G>C (p.Arg2022Ser)
c.6135G>C (p.Arg2045Ser)
c.5763G>C (p.Arg1921Ser)
c.5919G>C (p.Arg1973Ser)
c.6126G>C (p.Arg2042Ser)
c.5427G>C (p.Arg1809Ser)
c.6174G>C (p.Arg2058Ser)
 dbSNP gnomAD v4
16g.3728867C>TCA493393737CREBBPc.6180G>A (p.Arg2060=)
c.6066G>A (p.Arg2022=)
c.6135G>A (p.Arg2045=)
c.5763G>A (p.Arg1921=)
c.5919G>A (p.Arg1973=)
c.6126G>A (p.Arg2042=)
c.5427G>A (p.Arg1809=)
c.6174G>A (p.Arg2058=)
 dbSNP
16g.3728868C>ACA394553956CREBBPc.6179G>T (p.Arg2060Met)
c.6065G>T (p.Arg2022Met)
c.6134G>T (p.Arg2045Met)
c.5762G>T (p.Arg1921Met)
c.5918G>T (p.Arg1973Met)
c.6125G>T (p.Arg2042Met)
c.5426G>T (p.Arg1809Met)
c.6173G>T (p.Arg2058Met)
16g.3728868C>GCA394553954CREBBPc.6179G>C (p.Arg2060Thr)
c.6065G>C (p.Arg2022Thr)
c.6134G>C (p.Arg2045Thr)
c.5762G>C (p.Arg1921Thr)
c.5918G>C (p.Arg1973Thr)
c.6125G>C (p.Arg2042Thr)
c.5426G>C (p.Arg1809Thr)
c.6173G>C (p.Arg2058Thr)
 dbSNP
16g.3728868C>TCA394553955CREBBPc.6179G>A (p.Arg2060Lys)
c.6065G>A (p.Arg2022Lys)
c.6134G>A (p.Arg2045Lys)
c.5762G>A (p.Arg1921Lys)
c.5918G>A (p.Arg1973Lys)
c.6125G>A (p.Arg2042Lys)
c.5426G>A (p.Arg1809Lys)
c.6173G>A (p.Arg2058Lys)
 dbSNP
16g.3728869T>ACA394553957CREBBPc.6178A>T (p.Arg2060Trp)
c.6064A>T (p.Arg2022Trp)
c.6133A>T (p.Arg2045Trp)
c.5761A>T (p.Arg1921Trp)
c.5917A>T (p.Arg1973Trp)
c.6124A>T (p.Arg2042Trp)
c.5425A>T (p.Arg1809Trp)
c.6172A>T (p.Arg2058Trp)
 dbSNP
16g.3728869T>CCA394553958CREBBPc.6178A>G (p.Arg2060Gly)
c.6064A>G (p.Arg2022Gly)
c.6133A>G (p.Arg2045Gly)
c.5761A>G (p.Arg1921Gly)
c.5917A>G (p.Arg1973Gly)
c.6124A>G (p.Arg2042Gly)
c.5425A>G (p.Arg1809Gly)
c.6172A>G (p.Arg2058Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.3728869T>GCA493393738CREBBPc.6178A>C (p.Arg2060=)
c.6064A>C (p.Arg2022=)
c.6133A>C (p.Arg2045=)
c.5761A>C (p.Arg1921=)
c.5917A>C (p.Arg1973=)
c.6124A>C (p.Arg2042=)
c.5425A>C (p.Arg1809=)
c.6172A>C (p.Arg2058=)
 dbSNP gnomAD v3 gnomAD v4
16g.3728869T=CA2202928885CREBBPc.6178A= (p.Arg2060=)
c.6064A= (p.Arg2022=)
c.6133A= (p.Arg2045=)
c.5761A= (p.Arg1921=)
c.5917A= (p.Arg1973=)
c.6124A= (p.Arg2042=)
c.5425A= (p.Arg1809=)
c.6172A= (p.Arg2058=)
16g.3728870G>ACA493393740CREBBPc.6177C>T (p.Pro2059=)
c.6063C>T (p.Pro2021=)
c.6132C>T (p.Pro2044=)
c.5760C>T (p.Pro1920=)
c.5916C>T (p.Pro1972=)
c.6123C>T (p.Pro2041=)
c.5424C>T (p.Pro1808=)
c.6171C>T (p.Pro2057=)
 dbSNP gnomAD v2 gnomAD v4
16g.3728870G>CCA493393742CREBBPc.6177C>G (p.Pro2059=)
c.6063C>G (p.Pro2021=)
c.6132C>G (p.Pro2044=)
c.5760C>G (p.Pro1920=)
c.5916C>G (p.Pro1972=)
c.6123C>G (p.Pro2041=)
c.5424C>G (p.Pro1808=)
c.6171C>G (p.Pro2057=)
16g.3728870G=CA2202928886CREBBPc.6177C= (p.Pro2059=)
c.6063C= (p.Pro2021=)
c.6132C= (p.Pro2044=)
c.5760C= (p.Pro1920=)
c.5916C= (p.Pro1972=)
c.6123C= (p.Pro2041=)
c.5424C= (p.Pro1808=)
c.6171C= (p.Pro2057=)
16g.3728870G>TCA493393744CREBBPc.6177C>A (p.Pro2059=)
c.6063C>A (p.Pro2021=)
c.6132C>A (p.Pro2044=)
c.5760C>A (p.Pro1920=)
c.5916C>A (p.Pro1972=)
c.6123C>A (p.Pro2041=)
c.5424C>A (p.Pro1808=)
c.6171C>A (p.Pro2057=)
 dbSNP
16g.3728871G>ACA394553959CREBBPc.6176C>T (p.Pro2059Leu)
c.6062C>T (p.Pro2021Leu)
c.6131C>T (p.Pro2044Leu)
c.5759C>T (p.Pro1920Leu)
c.5915C>T (p.Pro1972Leu)
c.6122C>T (p.Pro2041Leu)
c.5423C>T (p.Pro1808Leu)
c.6170C>T (p.Pro2057Leu)
 dbSNP
16g.3728871G>CCA394553960CREBBPc.6176C>G (p.Pro2059Arg)
c.6062C>G (p.Pro2021Arg)
c.6131C>G (p.Pro2044Arg)
c.5759C>G (p.Pro1920Arg)
c.5915C>G (p.Pro1972Arg)
c.6122C>G (p.Pro2041Arg)
c.5423C>G (p.Pro1808Arg)
c.6170C>G (p.Pro2057Arg)
16g.3728871G>TCA394553961CREBBPc.6176C>A (p.Pro2059His)
c.6062C>A (p.Pro2021His)
c.6131C>A (p.Pro2044His)
c.5759C>A (p.Pro1920His)
c.5915C>A (p.Pro1972His)
c.6122C>A (p.Pro2041His)
c.5423C>A (p.Pro1808His)
c.6170C>A (p.Pro2057His)
 dbSNP
16g.3728872G>ACA394553962CREBBPc.6175C>T (p.Pro2059Ser)
c.6061C>T (p.Pro2021Ser)
c.6130C>T (p.Pro2044Ser)
c.5758C>T (p.Pro1920Ser)
c.5914C>T (p.Pro1972Ser)
c.6121C>T (p.Pro2041Ser)
c.5422C>T (p.Pro1808Ser)
c.6169C>T (p.Pro2057Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3728872G>CCA394553963CREBBPc.6175C>G (p.Pro2059Ala)
c.6061C>G (p.Pro2021Ala)
c.6130C>G (p.Pro2044Ala)
c.5758C>G (p.Pro1920Ala)
c.5914C>G (p.Pro1972Ala)
c.6121C>G (p.Pro2041Ala)
c.5422C>G (p.Pro1808Ala)
c.6169C>G (p.Pro2057Ala)
 dbSNP
16g.3728872G=CA2202928887CREBBPc.6175C= (p.Pro2059=)
c.6061C= (p.Pro2021=)
c.6130C= (p.Pro2044=)
c.5758C= (p.Pro1920=)
c.5914C= (p.Pro1972=)
c.6121C= (p.Pro2041=)
c.5422C= (p.Pro1808=)
c.6169C= (p.Pro2057=)
16g.3728872G>TCA394553964CREBBPc.6175C>A (p.Pro2059Thr)
c.6061C>A (p.Pro2021Thr)
c.6130C>A (p.Pro2044Thr)
c.5758C>A (p.Pro1920Thr)
c.5914C>A (p.Pro1972Thr)
c.6121C>A (p.Pro2041Thr)
c.5422C>A (p.Pro1808Thr)
c.6169C>A (p.Pro2057Thr)
16g.3728873T>ACA493393746CREBBPc.6174A>T (p.Pro2058=)
c.6060A>T (p.Pro2020=)
c.6129A>T (p.Pro2043=)
c.5757A>T (p.Pro1919=)
c.5913A>T (p.Pro1971=)
c.6120A>T (p.Pro2040=)
c.5421A>T (p.Pro1807=)
c.6168A>T (p.Pro2056=)
 dbSNP
16g.3728873T>CCA493393748CREBBPc.6174A>G (p.Pro2058=)
c.6060A>G (p.Pro2020=)
c.6129A>G (p.Pro2043=)
c.5757A>G (p.Pro1919=)
c.5913A>G (p.Pro1971=)
c.6120A>G (p.Pro2040=)
c.5421A>G (p.Pro1807=)
c.6168A>G (p.Pro2056=)
 dbSNP
16g.3728873T>GCA493393750CREBBPc.6174A>C (p.Pro2058=)
c.6060A>C (p.Pro2020=)
c.6129A>C (p.Pro2043=)
c.5757A>C (p.Pro1919=)
c.5913A>C (p.Pro1971=)
c.6120A>C (p.Pro2040=)
c.5421A>C (p.Pro1807=)
c.6168A>C (p.Pro2056=)
 dbSNP
16g.3728874G>ACA394553966CREBBPc.6173C>T (p.Pro2058Leu)
c.6059C>T (p.Pro2020Leu)
c.6128C>T (p.Pro2043Leu)
c.5756C>T (p.Pro1919Leu)
c.5912C>T (p.Pro1971Leu)
c.6119C>T (p.Pro2040Leu)
c.5420C>T (p.Pro1807Leu)
c.6167C>T (p.Pro2056Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3728874G>CCA394553968CREBBPc.6173C>G (p.Pro2058Arg)
c.6059C>G (p.Pro2020Arg)
c.6128C>G (p.Pro2043Arg)
c.5756C>G (p.Pro1919Arg)
c.5912C>G (p.Pro1971Arg)
c.6119C>G (p.Pro2040Arg)
c.5420C>G (p.Pro1807Arg)
c.6167C>G (p.Pro2056Arg)
 dbSNP gnomAD v4
16g.3728874G=CA2202928888CREBBPc.6173C= (p.Pro2058=)
c.6059C= (p.Pro2020=)
c.6128C= (p.Pro2043=)
c.5756C= (p.Pro1919=)
c.5912C= (p.Pro1971=)
c.6119C= (p.Pro2040=)
c.5420C= (p.Pro1807=)
c.6167C= (p.Pro2056=)
16g.3728874G>TCA394553970CREBBPc.6173C>A (p.Pro2058Gln)
c.6059C>A (p.Pro2020Gln)
c.6128C>A (p.Pro2043Gln)
c.5756C>A (p.Pro1919Gln)
c.5912C>A (p.Pro1971Gln)
c.6119C>A (p.Pro2040Gln)
c.5420C>A (p.Pro1807Gln)
c.6167C>A (p.Pro2056Gln)
 dbSNP gnomAD v4
16g.3728875G>ACA394553976CREBBPc.6172C>T (p.Pro2058Ser)
c.6058C>T (p.Pro2020Ser)
c.6127C>T (p.Pro2043Ser)
c.5755C>T (p.Pro1919Ser)
c.5911C>T (p.Pro1971Ser)
c.6118C>T (p.Pro2040Ser)
c.5419C>T (p.Pro1807Ser)
c.6166C>T (p.Pro2056Ser)
16g.3728875G>CCA394553974CREBBPc.6172C>G (p.Pro2058Ala)
c.6058C>G (p.Pro2020Ala)
c.6127C>G (p.Pro2043Ala)
c.5755C>G (p.Pro1919Ala)
c.5911C>G (p.Pro1971Ala)
c.6118C>G (p.Pro2040Ala)
c.5419C>G (p.Pro1807Ala)
c.6166C>G (p.Pro2056Ala)
16g.3728875G>TCA394553972CREBBPc.6172C>A (p.Pro2058Thr)
c.6058C>A (p.Pro2020Thr)
c.6127C>A (p.Pro2043Thr)
c.5755C>A (p.Pro1919Thr)
c.5911C>A (p.Pro1971Thr)
c.6118C>A (p.Pro2040Thr)
c.5419C>A (p.Pro1807Thr)
c.6166C>A (p.Pro2056Thr)
16g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCA2202928889CREBBPc.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2044=)
c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2006=)
c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2029=)
c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1905=)
c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1957=)
c.6076_6118delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2026=)
c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1793=)
c.6124_6166delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2042=)
16g.3728876C>ACA394553977CREBBPc.6171G>T (p.Gln2057His)
c.6057G>T (p.Gln2019His)
c.6126G>T (p.Gln2042His)
c.5754G>T (p.Gln1918His)
c.5910G>T (p.Gln1970His)
c.6117G>T (p.Gln2039His)
c.5418G>T (p.Gln1806His)
c.6165G>T (p.Gln2055His)
16g.3728876C>GCA394553978CREBBPc.6171G>C (p.Gln2057His)
c.6057G>C (p.Gln2019His)
c.6126G>C (p.Gln2042His)
c.5754G>C (p.Gln1918His)
c.5910G>C (p.Gln1970His)
c.6117G>C (p.Gln2039His)
c.5418G>C (p.Gln1806His)
c.6165G>C (p.Gln2055His)
16g.3728876C>TCA493393753CREBBPc.6171G>A (p.Gln2057=)
c.6057G>A (p.Gln2019=)
c.6126G>A (p.Gln2042=)
c.5754G>A (p.Gln1918=)
c.5910G>A (p.Gln1970=)
c.6117G>A (p.Gln2039=)
c.5418G>A (p.Gln1806=)
c.6165G>A (p.Gln2055=)
 gnomAD v4
16g.3728881_3728922delCA271438CREBBPc.6130_6171del (p.Ala2044_Gln2057del)
c.6016_6057del (p.Ala2006_Gln2019del)
c.6085_6126del (p.Ala2029_Gln2042del)
c.5713_5754del (p.Ala1905_Gln1918del)
c.5869_5910del (p.Ala1957_Gln1970del)
c.6076_6117del (p.Ala2026_Gln2039del)
c.5377_5418del (p.Ala1793_Gln1806del)
c.6124_6165del (p.Ala2042_Gln2055del)
 ClinVar dbSNP
16g.3728877T>ACA394553979CREBBPc.6170A>T (p.Gln2057Leu)
c.6056A>T (p.Gln2019Leu)
c.6125A>T (p.Gln2042Leu)
c.5753A>T (p.Gln1918Leu)
c.5909A>T (p.Gln1970Leu)
c.6116A>T (p.Gln2039Leu)
c.5417A>T (p.Gln1806Leu)
c.6164A>T (p.Gln2055Leu)
 dbSNP
16g.3728877T>CCA394553980CREBBPc.6170A>G (p.Gln2057Arg)
c.6056A>G (p.Gln2019Arg)
c.6125A>G (p.Gln2042Arg)
c.5753A>G (p.Gln1918Arg)
c.5909A>G (p.Gln1970Arg)
c.6116A>G (p.Gln2039Arg)
c.5417A>G (p.Gln1806Arg)
c.6164A>G (p.Gln2055Arg)
 dbSNP
16g.3728877T>GCA394553981CREBBPc.6170A>C (p.Gln2057Pro)
c.6056A>C (p.Gln2019Pro)
c.6125A>C (p.Gln2042Pro)
c.5753A>C (p.Gln1918Pro)
c.5909A>C (p.Gln1970Pro)
c.6116A>C (p.Gln2039Pro)
c.5417A>C (p.Gln1806Pro)
c.6164A>C (p.Gln2055Pro)
 dbSNP gnomAD v4
16g.3728878G>ACA394553982CREBBPc.6169C>T (p.Gln2057Ter)
c.6055C>T (p.Gln2019Ter)
c.6124C>T (p.Gln2042Ter)
c.5752C>T (p.Gln1918Ter)
c.5908C>T (p.Gln1970Ter)
c.6115C>T (p.Gln2039Ter)
c.5416C>T (p.Gln1806Ter)
c.6163C>T (p.Gln2055Ter)
 ClinVar dbSNP gnomAD v2
16g.3728878G>CCA394553983CREBBPc.6169C>G (p.Gln2057Glu)
c.6055C>G (p.Gln2019Glu)
c.6124C>G (p.Gln2042Glu)
c.5752C>G (p.Gln1918Glu)
c.5908C>G (p.Gln1970Glu)
c.6115C>G (p.Gln2039Glu)
c.5416C>G (p.Gln1806Glu)
c.6163C>G (p.Gln2055Glu)
 dbSNP
16g.3728878G=CA2202928890CREBBPc.6169C= (p.Gln2057=)
c.6055C= (p.Gln2019=)
c.6124C= (p.Gln2042=)
c.5752C= (p.Gln1918=)
c.5908C= (p.Gln1970=)
c.6115C= (p.Gln2039=)
c.5416C= (p.Gln1806=)
c.6163C= (p.Gln2055=)
16g.3728878G>TCA394553984CREBBPc.6169C>A (p.Gln2057Lys)
c.6055C>A (p.Gln2019Lys)
c.6124C>A (p.Gln2042Lys)
c.5752C>A (p.Gln1918Lys)
c.5908C>A (p.Gln1970Lys)
c.6115C>A (p.Gln2039Lys)
c.5416C>A (p.Gln1806Lys)
c.6163C>A (p.Gln2055Lys)
 gnomAD v4
16g.3728879C>ACA493393755CREBBPc.6168G>T (p.Val2056=)
c.6054G>T (p.Val2018=)
c.6123G>T (p.Val2041=)
c.5751G>T (p.Val1917=)
c.5907G>T (p.Val1969=)
c.6114G>T (p.Val2038=)
c.5415G>T (p.Val1805=)
c.6162G>T (p.Val2054=)
16g.3728879C=CA2202928891CREBBPc.6168G= (p.Val2056=)
c.6054G= (p.Val2018=)
c.6123G= (p.Val2041=)
c.5751G= (p.Val1917=)
c.5907G= (p.Val1969=)
c.6114G= (p.Val2038=)
c.5415G= (p.Val1805=)
c.6162G= (p.Val2054=)
16g.3728879C>GCA493393756CREBBPc.6168G>C (p.Val2056=)
c.6054G>C (p.Val2018=)
c.6123G>C (p.Val2041=)
c.5751G>C (p.Val1917=)
c.5907G>C (p.Val1969=)
c.6114G>C (p.Val2038=)
c.5415G>C (p.Val1805=)
c.6162G>C (p.Val2054=)
16g.3728879C>TCA7869165CREBBPc.6168G>A (p.Val2056=)
c.6054G>A (p.Val2018=)
c.6123G>A (p.Val2041=)
c.5751G>A (p.Val1917=)
c.5907G>A (p.Val1969=)
c.6114G>A (p.Val2038=)
c.5415G>A (p.Val1805=)
c.6162G>A (p.Val2054=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728879_3728888delCA2731850792CREBBPc.6159_6168del (p.Met2053IlefsTer19)
c.6045_6054del (p.Met2015IlefsTer19)
c.6114_6123del (p.Met2038IlefsTer19)
c.5742_5751del (p.Met1914IlefsTer19)
c.5898_5907del (p.Met1966IlefsTer19)
c.6105_6114del (p.Met2035IlefsTer19)
c.5406_5415del (p.Met1802IlefsTer19)
c.6153_6162del (p.Met2051IlefsTer19)
 dbSNP
16g.3728880A>CCA394553986CREBBPc.6167T>G (p.Val2056Gly)
c.6053T>G (p.Val2018Gly)
c.6122T>G (p.Val2041Gly)
c.5750T>G (p.Val1917Gly)
c.5906T>G (p.Val1969Gly)
c.6113T>G (p.Val2038Gly)
c.5414T>G (p.Val1805Gly)
c.6161T>G (p.Val2054Gly)
16g.3728880A>GCA394553987CREBBPc.6167T>C (p.Val2056Ala)
c.6053T>C (p.Val2018Ala)
c.6122T>C (p.Val2041Ala)
c.5750T>C (p.Val1917Ala)
c.5906T>C (p.Val1969Ala)
c.6113T>C (p.Val2038Ala)
c.5414T>C (p.Val1805Ala)
c.6161T>C (p.Val2054Ala)
16g.3728880A>TCA394553988CREBBPc.6167T>A (p.Val2056Glu)
c.6053T>A (p.Val2018Glu)
c.6122T>A (p.Val2041Glu)
c.5750T>A (p.Val1917Glu)
c.5906T>A (p.Val1969Glu)
c.6113T>A (p.Val2038Glu)
c.5414T>A (p.Val1805Glu)
c.6161T>A (p.Val2054Glu)
16g.3728881delCA2695222740CREBBPc.6166del (p.Val2056CysfsTer19)
c.6052del (p.Val2018CysfsTer19)
c.6121del (p.Val2041CysfsTer19)
c.5749del (p.Val1917CysfsTer19)
c.5905del (p.Val1969CysfsTer19)
c.6112del (p.Val2038CysfsTer19)
c.5413del (p.Val1805CysfsTer19)
c.6160del (p.Val2054CysfsTer19)
16g.3728881C>ACA394553994CREBBPc.6166G>T (p.Val2056Leu)
c.6052G>T (p.Val2018Leu)
c.6121G>T (p.Val2041Leu)
c.5749G>T (p.Val1917Leu)
c.5905G>T (p.Val1969Leu)
c.6112G>T (p.Val2038Leu)
c.5413G>T (p.Val1805Leu)
c.6160G>T (p.Val2054Leu)
16g.3728881C=CA2202916097CREBBPc.6166G= (p.Val2056=)
c.6052G= (p.Val2018=)
c.6121G= (p.Val2041=)
c.5749G= (p.Val1917=)
c.5905G= (p.Val1969=)
c.6112G= (p.Val2038=)
c.5413G= (p.Val1805=)
c.6160G= (p.Val2054=)
16g.3728881C>GCA394553997CREBBPc.6166G>C (p.Val2056Leu)
c.6052G>C (p.Val2018Leu)
c.6121G>C (p.Val2041Leu)
c.5749G>C (p.Val1917Leu)
c.5905G>C (p.Val1969Leu)
c.6112G>C (p.Val2038Leu)
c.5413G>C (p.Val1805Leu)
c.6160G>C (p.Val2054Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3728881C>TCA394553989CREBBPc.6166G>A (p.Val2056Met)
c.6052G>A (p.Val2018Met)
c.6121G>A (p.Val2041Met)
c.5749G>A (p.Val1917Met)
c.5905G>A (p.Val1969Met)
c.6112G>A (p.Val2038Met)
c.5413G>A (p.Val1805Met)
c.6160G>A (p.Val2054Met)
 dbSNP gnomAD v2 gnomAD v4
16g.3728882G>ACA7869166CREBBPc.6165C>T (p.Ser2055=)
c.6051C>T (p.Ser2017=)
c.6120C>T (p.Ser2040=)
c.5748C>T (p.Ser1916=)
c.5904C>T (p.Ser1968=)
c.6111C>T (p.Ser2037=)
c.5412C>T (p.Ser1804=)
c.6159C>T (p.Ser2053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728882G>CCA394554000CREBBPc.6165C>G (p.Ser2055Arg)
c.6051C>G (p.Ser2017Arg)
c.6120C>G (p.Ser2040Arg)
c.5748C>G (p.Ser1916Arg)
c.5904C>G (p.Ser1968Arg)
c.6111C>G (p.Ser2037Arg)
c.5412C>G (p.Ser1804Arg)
c.6159C>G (p.Ser2053Arg)
16g.3728882G=CA2202916098CREBBPc.6165C= (p.Ser2055=)
c.6051C= (p.Ser2017=)
c.6120C= (p.Ser2040=)
c.5748C= (p.Ser1916=)
c.5904C= (p.Ser1968=)
c.6111C= (p.Ser2037=)
c.5412C= (p.Ser1804=)
c.6159C= (p.Ser2053=)
16g.3728882G>TCA394554002CREBBPc.6165C>A (p.Ser2055Arg)
c.6051C>A (p.Ser2017Arg)
c.6120C>A (p.Ser2040Arg)
c.5748C>A (p.Ser1916Arg)
c.5904C>A (p.Ser1968Arg)
c.6111C>A (p.Ser2037Arg)
c.5412C>A (p.Ser1804Arg)
c.6159C>A (p.Ser2053Arg)
 gnomAD v4
16g.3728883C>ACA394554004CREBBPc.6164G>T (p.Ser2055Ile)
c.6050G>T (p.Ser2017Ile)
c.6119G>T (p.Ser2040Ile)
c.5747G>T (p.Ser1916Ile)
c.5903G>T (p.Ser1968Ile)
c.6110G>T (p.Ser2037Ile)
c.5411G>T (p.Ser1804Ile)
c.6158G>T (p.Ser2053Ile)
 dbSNP gnomAD v4
16g.3728883C>GCA394554006CREBBPc.6164G>C (p.Ser2055Thr)
c.6050G>C (p.Ser2017Thr)
c.6119G>C (p.Ser2040Thr)
c.5747G>C (p.Ser1916Thr)
c.5903G>C (p.Ser1968Thr)
c.6110G>C (p.Ser2037Thr)
c.5411G>C (p.Ser1804Thr)
c.6158G>C (p.Ser2053Thr)
 ClinVar dbSNP
16g.3728883C>TCA394554008CREBBPc.6164G>A (p.Ser2055Asn)
c.6050G>A (p.Ser2017Asn)
c.6119G>A (p.Ser2040Asn)
c.5747G>A (p.Ser1916Asn)
c.5903G>A (p.Ser1968Asn)
c.6110G>A (p.Ser2037Asn)
c.5411G>A (p.Ser1804Asn)
c.6158G>A (p.Ser2053Asn)
 dbSNP gnomAD v4
16g.3728889_3728917delCA2573334478CREBBPc.6136_6164del (p.Ala2046ArgfsTer?)
c.6022_6050del (p.Ala2008ArgfsTer?)
c.6091_6119del (p.Ala2031ArgfsTer?)
c.5719_5747del (p.Ala1907ArgfsTer?)
c.5875_5903del (p.Ala1959ArgfsTer?)
c.6082_6110del (p.Ala2028ArgfsTer?)
c.5383_5411del (p.Ala1795ArgfsTer?)
c.6130_6158del (p.Ala2044ArgfsTer?)
 dbSNP
16g.3728884T>ACA394554010CREBBPc.6163A>T (p.Ser2055Cys)
c.6049A>T (p.Ser2017Cys)
c.6118A>T (p.Ser2040Cys)
c.5746A>T (p.Ser1916Cys)
c.5902A>T (p.Ser1968Cys)
c.6109A>T (p.Ser2037Cys)
c.5410A>T (p.Ser1804Cys)
c.6157A>T (p.Ser2053Cys)
16g.3728884T>CCA394554012CREBBPc.6163A>G (p.Ser2055Gly)
c.6049A>G (p.Ser2017Gly)
c.6118A>G (p.Ser2040Gly)
c.5746A>G (p.Ser1916Gly)
c.5902A>G (p.Ser1968Gly)
c.6109A>G (p.Ser2037Gly)
c.5410A>G (p.Ser1804Gly)
c.6157A>G (p.Ser2053Gly)
16g.3728884T>GCA394554014CREBBPc.6163A>C (p.Ser2055Arg)
c.6049A>C (p.Ser2017Arg)
c.6118A>C (p.Ser2040Arg)
c.5746A>C (p.Ser1916Arg)
c.5902A>C (p.Ser1968Arg)
c.6109A>C (p.Ser2037Arg)
c.5410A>C (p.Ser1804Arg)
c.6157A>C (p.Ser2053Arg)
16g.3728885G>ACA493393760CREBBPc.6162C>T (p.Pro2054=)
c.6048C>T (p.Pro2016=)
c.6117C>T (p.Pro2039=)
c.5745C>T (p.Pro1915=)
c.5901C>T (p.Pro1967=)
c.6108C>T (p.Pro2036=)
c.5409C>T (p.Pro1803=)
c.6156C>T (p.Pro2052=)
 dbSNP
16g.3728885G>CCA493393761CREBBPc.6162C>G (p.Pro2054=)
c.6048C>G (p.Pro2016=)
c.6117C>G (p.Pro2039=)
c.5745C>G (p.Pro1915=)
c.5901C>G (p.Pro1967=)
c.6108C>G (p.Pro2036=)
c.5409C>G (p.Pro1803=)
c.6156C>G (p.Pro2052=)
 dbSNP
16g.3728885G>TCA493393763CREBBPc.6162C>A (p.Pro2054=)
c.6048C>A (p.Pro2016=)
c.6117C>A (p.Pro2039=)
c.5745C>A (p.Pro1915=)
c.5901C>A (p.Pro1967=)
c.6108C>A (p.Pro2036=)
c.5409C>A (p.Pro1803=)
c.6156C>A (p.Pro2052=)
 dbSNP gnomAD v4
16g.3728886G>ACA394554016CREBBPc.6161C>T (p.Pro2054Leu)
c.6047C>T (p.Pro2016Leu)
c.6116C>T (p.Pro2039Leu)
c.5744C>T (p.Pro1915Leu)
c.5900C>T (p.Pro1967Leu)
c.6107C>T (p.Pro2036Leu)
c.5408C>T (p.Pro1803Leu)
c.6155C>T (p.Pro2052Leu)
 ClinVar dbSNP
16g.3728886G>CCA394554018CREBBPc.6161C>G (p.Pro2054Arg)
c.6047C>G (p.Pro2016Arg)
c.6116C>G (p.Pro2039Arg)
c.5744C>G (p.Pro1915Arg)
c.5900C>G (p.Pro1967Arg)
c.6107C>G (p.Pro2036Arg)
c.5408C>G (p.Pro1803Arg)
c.6155C>G (p.Pro2052Arg)
 dbSNP gnomAD v4
16g.3728886G>TCA394554020CREBBPc.6161C>A (p.Pro2054His)
c.6047C>A (p.Pro2016His)
c.6116C>A (p.Pro2039His)
c.5744C>A (p.Pro1915His)
c.5900C>A (p.Pro1967His)
c.6107C>A (p.Pro2036His)
c.5408C>A (p.Pro1803His)
c.6155C>A (p.Pro2052His)
16g.3728887G>ACA394554026CREBBPc.6160C>T (p.Pro2054Ser)
c.6046C>T (p.Pro2016Ser)
c.6115C>T (p.Pro2039Ser)
c.5743C>T (p.Pro1915Ser)
c.5899C>T (p.Pro1967Ser)
c.6106C>T (p.Pro2036Ser)
c.5407C>T (p.Pro1803Ser)
c.6154C>T (p.Pro2052Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3728887G>CCA394554022CREBBPc.6160C>G (p.Pro2054Ala)
c.6046C>G (p.Pro2016Ala)
c.6115C>G (p.Pro2039Ala)
c.5743C>G (p.Pro1915Ala)
c.5899C>G (p.Pro1967Ala)
c.6106C>G (p.Pro2036Ala)
c.5407C>G (p.Pro1803Ala)
c.6154C>G (p.Pro2052Ala)
 dbSNP
16g.3728887G=CA2202916099CREBBPc.6160C= (p.Pro2054=)
c.6046C= (p.Pro2016=)
c.6115C= (p.Pro2039=)
c.5743C= (p.Pro1915=)
c.5899C= (p.Pro1967=)
c.6106C= (p.Pro2036=)
c.5407C= (p.Pro1803=)
c.6154C= (p.Pro2052=)
16g.3728887G>TCA394554024CREBBPc.6160C>A (p.Pro2054Thr)
c.6046C>A (p.Pro2016Thr)
c.6115C>A (p.Pro2039Thr)
c.5743C>A (p.Pro1915Thr)
c.5899C>A (p.Pro1967Thr)
c.6106C>A (p.Pro2036Thr)
c.5407C>A (p.Pro1803Thr)
c.6154C>A (p.Pro2052Thr)
16g.3728888C>ACA394554028CREBBPc.6159G>T (p.Met2053Ile)
c.6045G>T (p.Met2015Ile)
c.6114G>T (p.Met2038Ile)
c.5742G>T (p.Met1914Ile)
c.5898G>T (p.Met1966Ile)
c.6105G>T (p.Met2035Ile)
c.5406G>T (p.Met1802Ile)
c.6153G>T (p.Met2051Ile)
 gnomAD v4
16g.3728888C>GCA394554030CREBBPc.6159G>C (p.Met2053Ile)
c.6045G>C (p.Met2015Ile)
c.6114G>C (p.Met2038Ile)
c.5742G>C (p.Met1914Ile)
c.5898G>C (p.Met1966Ile)
c.6105G>C (p.Met2035Ile)
c.5406G>C (p.Met1802Ile)
c.6153G>C (p.Met2051Ile)
16g.3728888C>TCA394554032CREBBPc.6159G>A (p.Met2053Ile)
c.6045G>A (p.Met2015Ile)
c.6114G>A (p.Met2038Ile)
c.5742G>A (p.Met1914Ile)
c.5898G>A (p.Met1966Ile)
c.6105G>A (p.Met2035Ile)
c.5406G>A (p.Met1802Ile)
c.6153G>A (p.Met2051Ile)
16g.3728889A>CCA394554034CREBBPc.6158T>G (p.Met2053Arg)
c.6044T>G (p.Met2015Arg)
c.6113T>G (p.Met2038Arg)
c.5741T>G (p.Met1914Arg)
c.5897T>G (p.Met1966Arg)
c.6104T>G (p.Met2035Arg)
c.5405T>G (p.Met1802Arg)
c.6152T>G (p.Met2051Arg)
16g.3728889A>GCA394554036CREBBPc.6158T>C (p.Met2053Thr)
c.6044T>C (p.Met2015Thr)
c.6113T>C (p.Met2038Thr)
c.5741T>C (p.Met1914Thr)
c.5897T>C (p.Met1966Thr)
c.6104T>C (p.Met2035Thr)
c.5405T>C (p.Met1802Thr)
c.6152T>C (p.Met2051Thr)
 gnomAD v4
16g.3728889A>TCA394554038CREBBPc.6158T>A (p.Met2053Lys)
c.6044T>A (p.Met2015Lys)
c.6113T>A (p.Met2038Lys)
c.5741T>A (p.Met1914Lys)
c.5897T>A (p.Met1966Lys)
c.6104T>A (p.Met2035Lys)
c.5405T>A (p.Met1802Lys)
c.6152T>A (p.Met2051Lys)
 dbSNP
16g.3728890T>ACA394554040CREBBPc.6157A>T (p.Met2053Leu)
c.6043A>T (p.Met2015Leu)
c.6112A>T (p.Met2038Leu)
c.5740A>T (p.Met1914Leu)
c.5896A>T (p.Met1966Leu)
c.6103A>T (p.Met2035Leu)
c.5404A>T (p.Met1802Leu)
c.6151A>T (p.Met2051Leu)
 dbSNP
16g.3728890T>CCA7869167CREBBPc.6157A>G (p.Met2053Val)
c.6043A>G (p.Met2015Val)
c.6112A>G (p.Met2038Val)
c.5740A>G (p.Met1914Val)
c.5896A>G (p.Met1966Val)
c.6103A>G (p.Met2035Val)
c.5404A>G (p.Met1802Val)
c.6151A>G (p.Met2051Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728890T>GCA394554042CREBBPc.6157A>C (p.Met2053Leu)
c.6043A>C (p.Met2015Leu)
c.6112A>C (p.Met2038Leu)
c.5740A>C (p.Met1914Leu)
c.5896A>C (p.Met1966Leu)
c.6103A>C (p.Met2035Leu)
c.5404A>C (p.Met1802Leu)
c.6151A>C (p.Met2051Leu)
16g.3728890T=CA2202916100CREBBPc.6157A= (p.Met2053=)
c.6043A= (p.Met2015=)
c.6112A= (p.Met2038=)
c.5740A= (p.Met1914=)
c.5896A= (p.Met1966=)
c.6103A= (p.Met2035=)
c.5404A= (p.Met1802=)
c.6151A= (p.Met2051=)
16g.3728891C>ACA493393765CREBBPc.6156G>T (p.Arg2052=)
c.6042G>T (p.Arg2014=)
c.6111G>T (p.Arg2037=)
c.5739G>T (p.Arg1913=)
c.5895G>T (p.Arg1965=)
c.6102G>T (p.Arg2034=)
c.5403G>T (p.Arg1801=)
c.6150G>T (p.Arg2050=)
 gnomAD v4
16g.3728891C>GCA493393766CREBBPc.6156G>C (p.Arg2052=)
c.6042G>C (p.Arg2014=)
c.6111G>C (p.Arg2037=)
c.5739G>C (p.Arg1913=)
c.5895G>C (p.Arg1965=)
c.6102G>C (p.Arg2034=)
c.5403G>C (p.Arg1801=)
c.6150G>C (p.Arg2050=)
 dbSNP gnomAD v4
16g.3728891C>TCA493393767CREBBPc.6156G>A (p.Arg2052=)
c.6042G>A (p.Arg2014=)
c.6111G>A (p.Arg2037=)
c.5739G>A (p.Arg1913=)
c.5895G>A (p.Arg1965=)
c.6102G>A (p.Arg2034=)
c.5403G>A (p.Arg1801=)
c.6150G>A (p.Arg2050=)
 dbSNP
16g.3728892C>ACA7869168CREBBPc.6155G>T (p.Arg2052Leu)
c.6041G>T (p.Arg2014Leu)
c.6110G>T (p.Arg2037Leu)
c.5738G>T (p.Arg1913Leu)
c.5894G>T (p.Arg1965Leu)
c.6101G>T (p.Arg2034Leu)
c.5402G>T (p.Arg1801Leu)
c.6149G>T (p.Arg2050Leu)
 dbSNP ExAC gnomAD v4
16g.3728892C=CA2202916101CREBBPc.6155G= (p.Arg2052=)
c.6041G= (p.Arg2014=)
c.6110G= (p.Arg2037=)
c.5738G= (p.Arg1913=)
c.5894G= (p.Arg1965=)
c.6101G= (p.Arg2034=)
c.5402G= (p.Arg1801=)
c.6149G= (p.Arg2050=)
16g.3728892C>GCA394554046CREBBPc.6155G>C (p.Arg2052Pro)
c.6041G>C (p.Arg2014Pro)
c.6110G>C (p.Arg2037Pro)
c.5738G>C (p.Arg1913Pro)
c.5894G>C (p.Arg1965Pro)
c.6101G>C (p.Arg2034Pro)
c.5402G>C (p.Arg1801Pro)
c.6149G>C (p.Arg2050Pro)
 dbSNP
16g.3728892C>TCA276971747CREBBPc.6155G>A (p.Arg2052Gln)
c.6041G>A (p.Arg2014Gln)
c.6110G>A (p.Arg2037Gln)
c.5738G>A (p.Arg1913Gln)
c.5894G>A (p.Arg1965Gln)
c.6101G>A (p.Arg2034Gln)
c.5402G>A (p.Arg1801Gln)
c.6149G>A (p.Arg2050Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728893G>ACA394554050CREBBPc.6154C>T (p.Arg2052Trp)
c.6040C>T (p.Arg2014Trp)
c.6109C>T (p.Arg2037Trp)
c.5737C>T (p.Arg1913Trp)
c.5893C>T (p.Arg1965Trp)
c.6100C>T (p.Arg2034Trp)
c.5401C>T (p.Arg1801Trp)
c.6148C>T (p.Arg2050Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728893G>CCA394554048CREBBPc.6154C>G (p.Arg2052Gly)
c.6040C>G (p.Arg2014Gly)
c.6109C>G (p.Arg2037Gly)
c.5737C>G (p.Arg1913Gly)
c.5893C>G (p.Arg1965Gly)
c.6100C>G (p.Arg2034Gly)
c.5401C>G (p.Arg1801Gly)
c.6148C>G (p.Arg2050Gly)
 dbSNP gnomAD v4
16g.3728893G=CA2202916102CREBBPc.6154C= (p.Arg2052=)
c.6040C= (p.Arg2014=)
c.6109C= (p.Arg2037=)
c.5737C= (p.Arg1913=)
c.5893C= (p.Arg1965=)
c.6100C= (p.Arg2034=)
c.5401C= (p.Arg1801=)
c.6148C= (p.Arg2050=)
16g.3728893G>TCA493393791CREBBPc.6154C>A (p.Arg2052=)
c.6040C>A (p.Arg2014=)
c.6109C>A (p.Arg2037=)
c.5737C>A (p.Arg1913=)
c.5893C>A (p.Arg1965=)
c.6100C>A (p.Arg2034=)
c.5401C>A (p.Arg1801=)
c.6148C>A (p.Arg2050=)
 dbSNP gnomAD v4
16g.3728894G>ACA493393792CREBBPc.6153C>T (p.Pro2051=)
c.6039C>T (p.Pro2013=)
c.6108C>T (p.Pro2036=)
c.5736C>T (p.Pro1912=)
c.5892C>T (p.Pro1964=)
c.6099C>T (p.Pro2033=)
c.5400C>T (p.Pro1800=)
c.6147C>T (p.Pro2049=)
 dbSNP gnomAD v2
16g.3728894G>CCA493393793CREBBPc.6153C>G (p.Pro2051=)
c.6039C>G (p.Pro2013=)
c.6108C>G (p.Pro2036=)
c.5736C>G (p.Pro1912=)
c.5892C>G (p.Pro1964=)
c.6099C>G (p.Pro2033=)
c.5400C>G (p.Pro1800=)
c.6147C>G (p.Pro2049=)
 dbSNP
16g.3728894G=CA2202916103CREBBPc.6153C= (p.Pro2051=)
c.6039C= (p.Pro2013=)
c.6108C= (p.Pro2036=)
c.5736C= (p.Pro1912=)
c.5892C= (p.Pro1964=)
c.6099C= (p.Pro2033=)
c.5400C= (p.Pro1800=)
c.6147C= (p.Pro2049=)
16g.3728894G>TCA276971750CREBBPc.6153C>A (p.Pro2051=)
c.6039C>A (p.Pro2013=)
c.6108C>A (p.Pro2036=)
c.5736C>A (p.Pro1912=)
c.5892C>A (p.Pro1964=)
c.6099C>A (p.Pro2033=)
c.5400C>A (p.Pro1800=)
c.6147C>A (p.Pro2049=)
 dbSNP
16g.3728895G>ACA394554053CREBBPc.6152C>T (p.Pro2051Leu)
c.6038C>T (p.Pro2013Leu)
c.6107C>T (p.Pro2036Leu)
c.5735C>T (p.Pro1912Leu)
c.5891C>T (p.Pro1964Leu)
c.6098C>T (p.Pro2033Leu)
c.5399C>T (p.Pro1800Leu)
c.6146C>T (p.Pro2049Leu)
 gnomAD v4
16g.3728895G>CCA394554057CREBBPc.6152C>G (p.Pro2051Arg)
c.6038C>G (p.Pro2013Arg)
c.6107C>G (p.Pro2036Arg)
c.5735C>G (p.Pro1912Arg)
c.5891C>G (p.Pro1964Arg)
c.6098C>G (p.Pro2033Arg)
c.5399C>G (p.Pro1800Arg)
c.6146C>G (p.Pro2049Arg)
 gnomAD v4
16g.3728895G>TCA394554054CREBBPc.6152C>A (p.Pro2051His)
c.6038C>A (p.Pro2013His)
c.6107C>A (p.Pro2036His)
c.5735C>A (p.Pro1912His)
c.5891C>A (p.Pro1964His)
c.6098C>A (p.Pro2033His)
c.5399C>A (p.Pro1800His)
c.6146C>A (p.Pro2049His)
 gnomAD v4 COSMIC
16g.3728896G>ACA394554060CREBBPc.6151C>T (p.Pro2051Ser)
c.6037C>T (p.Pro2013Ser)
c.6106C>T (p.Pro2036Ser)
c.5734C>T (p.Pro1912Ser)
c.5890C>T (p.Pro1964Ser)
c.6097C>T (p.Pro2033Ser)
c.5398C>T (p.Pro1800Ser)
c.6145C>T (p.Pro2049Ser)
16g.3728896G>CCA394554061CREBBPc.6151C>G (p.Pro2051Ala)
c.6037C>G (p.Pro2013Ala)
c.6106C>G (p.Pro2036Ala)
c.5734C>G (p.Pro1912Ala)
c.5890C>G (p.Pro1964Ala)
c.6097C>G (p.Pro2033Ala)
c.5398C>G (p.Pro1800Ala)
c.6145C>G (p.Pro2049Ala)
 gnomAD v4
16g.3728896G>TCA394554063CREBBPc.6151C>A (p.Pro2051Thr)
c.6037C>A (p.Pro2013Thr)
c.6106C>A (p.Pro2036Thr)
c.5734C>A (p.Pro1912Thr)
c.5890C>A (p.Pro1964Thr)
c.6097C>A (p.Pro2033Thr)
c.5398C>A (p.Pro1800Thr)
c.6145C>A (p.Pro2049Thr)
 gnomAD v4
16g.3728897C>ACA493393798CREBBPc.6150G>T (p.Gly2050=)
c.6036G>T (p.Gly2012=)
c.6105G>T (p.Gly2035=)
c.5733G>T (p.Gly1911=)
c.5889G>T (p.Gly1963=)
c.6096G>T (p.Gly2032=)
c.5397G>T (p.Gly1799=)
c.6144G>T (p.Gly2048=)
16g.3728897C>GCA493393799CREBBPc.6150G>C (p.Gly2050=)
c.6036G>C (p.Gly2012=)
c.6105G>C (p.Gly2035=)
c.5733G>C (p.Gly1911=)
c.5889G>C (p.Gly1963=)
c.6096G>C (p.Gly2032=)
c.5397G>C (p.Gly1799=)
c.6144G>C (p.Gly2048=)
16g.3728897C>TCA493393800CREBBPc.6150G>A (p.Gly2050=)
c.6036G>A (p.Gly2012=)
c.6105G>A (p.Gly2035=)
c.5733G>A (p.Gly1911=)
c.5889G>A (p.Gly1963=)
c.6096G>A (p.Gly2032=)
c.5397G>A (p.Gly1799=)
c.6144G>A (p.Gly2048=)
16g.3728899dupCA645575156CREBBPc.6150dup (p.Pro2051AlafsTer?)
c.6036dup (p.Pro2013AlafsTer?)
c.6105dup (p.Pro2036AlafsTer?)
c.5733dup (p.Pro1912AlafsTer?)
c.5889dup (p.Pro1964AlafsTer?)
c.6096dup (p.Pro2033AlafsTer?)
c.5397dup (p.Pro1800AlafsTer?)
c.6144dup (p.Pro2049AlafsTer?)
 COSMIC
16g.3728898C>ACA394554064CREBBPc.6149G>T (p.Gly2050Val)
c.6035G>T (p.Gly2012Val)
c.6104G>T (p.Gly2035Val)
c.5732G>T (p.Gly1911Val)
c.5888G>T (p.Gly1963Val)
c.6095G>T (p.Gly2032Val)
c.5396G>T (p.Gly1799Val)
c.6143G>T (p.Gly2048Val)
 dbSNP
16g.3728898C=CA2202916104CREBBPc.6149G= (p.Gly2050=)
c.6035G= (p.Gly2012=)
c.6104G= (p.Gly2035=)
c.5732G= (p.Gly1911=)
c.5888G= (p.Gly1963=)
c.6095G= (p.Gly2032=)
c.5396G= (p.Gly1799=)
c.6143G= (p.Gly2048=)
16g.3728898C>GCA394554065CREBBPc.6149G>C (p.Gly2050Ala)
c.6035G>C (p.Gly2012Ala)
c.6104G>C (p.Gly2035Ala)
c.5732G>C (p.Gly1911Ala)
c.5888G>C (p.Gly1963Ala)
c.6095G>C (p.Gly2032Ala)
c.5396G>C (p.Gly1799Ala)
c.6143G>C (p.Gly2048Ala)
 dbSNP
16g.3728898C>TCA394554067CREBBPc.6149G>A (p.Gly2050Glu)
c.6035G>A (p.Gly2012Glu)
c.6104G>A (p.Gly2035Glu)
c.5732G>A (p.Gly1911Glu)
c.5888G>A (p.Gly1963Glu)
c.6095G>A (p.Gly2032Glu)
c.5396G>A (p.Gly1799Glu)
c.6143G>A (p.Gly2048Glu)
 dbSNP gnomAD v2
16g.3728899C>ACA394554069CREBBPc.6148G>T (p.Gly2050Trp)
c.6034G>T (p.Gly2012Trp)
c.6103G>T (p.Gly2035Trp)
c.5731G>T (p.Gly1911Trp)
c.5887G>T (p.Gly1963Trp)
c.6094G>T (p.Gly2032Trp)
c.5395G>T (p.Gly1799Trp)
c.6142G>T (p.Gly2048Trp)
16g.3728899C=CA2202916105CREBBPc.6148G= (p.Gly2050=)
c.6034G= (p.Gly2012=)
c.6103G= (p.Gly2035=)
c.5731G= (p.Gly1911=)
c.5887G= (p.Gly1963=)
c.6094G= (p.Gly2032=)
c.5395G= (p.Gly1799=)
c.6142G= (p.Gly2048=)
16g.3728899C>GCA394554070CREBBPc.6148G>C (p.Gly2050Arg)
c.6034G>C (p.Gly2012Arg)
c.6103G>C (p.Gly2035Arg)
c.5731G>C (p.Gly1911Arg)
c.5887G>C (p.Gly1963Arg)
c.6094G>C (p.Gly2032Arg)
c.5395G>C (p.Gly1799Arg)
c.6142G>C (p.Gly2048Arg)
 dbSNP
16g.3728899C>TCA7869169CREBBPc.6148G>A (p.Gly2050Arg)
c.6034G>A (p.Gly2012Arg)
c.6103G>A (p.Gly2035Arg)
c.5731G>A (p.Gly1911Arg)
c.5887G>A (p.Gly1963Arg)
c.6094G>A (p.Gly2032Arg)
c.5395G>A (p.Gly1799Arg)
c.6142G>A (p.Gly2048Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728900A>CCA493393801CREBBPc.6147T>G (p.Ala2049=)
c.6033T>G (p.Ala2011=)
c.6102T>G (p.Ala2034=)
c.5730T>G (p.Ala1910=)
c.5886T>G (p.Ala1962=)
c.6093T>G (p.Ala2031=)
c.5394T>G (p.Ala1798=)
c.6141T>G (p.Ala2047=)
 dbSNP
16g.3728900A>GCA493393803CREBBPc.6147T>C (p.Ala2049=)
c.6033T>C (p.Ala2011=)
c.6102T>C (p.Ala2034=)
c.5730T>C (p.Ala1910=)
c.5886T>C (p.Ala1962=)
c.6093T>C (p.Ala2031=)
c.5394T>C (p.Ala1798=)
c.6141T>C (p.Ala2047=)
 dbSNP
16g.3728900A>TCA493393802CREBBPc.6147T>A (p.Ala2049=)
c.6033T>A (p.Ala2011=)
c.6102T>A (p.Ala2034=)
c.5730T>A (p.Ala1910=)
c.5886T>A (p.Ala1962=)
c.6093T>A (p.Ala2031=)
c.5394T>A (p.Ala1798=)
c.6141T>A (p.Ala2047=)
 dbSNP
16g.3728901G>ACA7869170CREBBPc.6146C>T (p.Ala2049Val)
c.6032C>T (p.Ala2011Val)
c.6101C>T (p.Ala2034Val)
c.5729C>T (p.Ala1910Val)
c.5885C>T (p.Ala1962Val)
c.6092C>T (p.Ala2031Val)
c.5393C>T (p.Ala1798Val)
c.6140C>T (p.Ala2047Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728901G>CCA394554074CREBBPc.6146C>G (p.Ala2049Gly)
c.6032C>G (p.Ala2011Gly)
c.6101C>G (p.Ala2034Gly)
c.5729C>G (p.Ala1910Gly)
c.5885C>G (p.Ala1962Gly)
c.6092C>G (p.Ala2031Gly)
c.5393C>G (p.Ala1798Gly)
c.6140C>G (p.Ala2047Gly)
16g.3728901G=CA2202916106CREBBPc.6146C= (p.Ala2049=)
c.6032C= (p.Ala2011=)
c.6101C= (p.Ala2034=)
c.5729C= (p.Ala1910=)
c.5885C= (p.Ala1962=)
c.6092C= (p.Ala2031=)
c.5393C= (p.Ala1798=)
c.6140C= (p.Ala2047=)
16g.3728901G>TCA276971757CREBBPc.6146C>A (p.Ala2049Asp)
c.6032C>A (p.Ala2011Asp)
c.6101C>A (p.Ala2034Asp)
c.5729C>A (p.Ala1910Asp)
c.5885C>A (p.Ala1962Asp)
c.6092C>A (p.Ala2031Asp)
c.5393C>A (p.Ala1798Asp)
c.6140C>A (p.Ala2047Asp)
 dbSNP gnomAD v4 COSMIC
16g.3728902C>ACA394554077CREBBPc.6145G>T (p.Ala2049Ser)
c.6031G>T (p.Ala2011Ser)
c.6100G>T (p.Ala2034Ser)
c.5728G>T (p.Ala1910Ser)
c.5884G>T (p.Ala1962Ser)
c.6091G>T (p.Ala2031Ser)
c.5392G>T (p.Ala1798Ser)
c.6139G>T (p.Ala2047Ser)
 gnomAD v4
16g.3728902C=CA2202916107CREBBPc.6145G= (p.Ala2049=)
c.6031G= (p.Ala2011=)
c.6100G= (p.Ala2034=)
c.5728G= (p.Ala1910=)
c.5884G= (p.Ala1962=)
c.6091G= (p.Ala2031=)
c.5392G= (p.Ala1798=)
c.6139G= (p.Ala2047=)
16g.3728902C>GCA7869171CREBBPc.6145G>C (p.Ala2049Pro)
c.6031G>C (p.Ala2011Pro)
c.6100G>C (p.Ala2034Pro)
c.5728G>C (p.Ala1910Pro)
c.5884G>C (p.Ala1962Pro)
c.6091G>C (p.Ala2031Pro)
c.5392G>C (p.Ala1798Pro)
c.6139G>C (p.Ala2047Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728902C>TCA394554079CREBBPc.6145G>A (p.Ala2049Thr)
c.6031G>A (p.Ala2011Thr)
c.6100G>A (p.Ala2034Thr)
c.5728G>A (p.Ala1910Thr)
c.5884G>A (p.Ala1962Thr)
c.6091G>A (p.Ala2031Thr)
c.5392G>A (p.Ala1798Thr)
c.6139G>A (p.Ala2047Thr)
 gnomAD v4
16g.3728903delCA2731850866CREBBPc.6145del (p.Ala2049LeufsTer26)
c.6031del (p.Ala2011LeufsTer26)
c.6100del (p.Ala2034LeufsTer26)
c.5728del (p.Ala1910LeufsTer26)
c.5884del (p.Ala1962LeufsTer26)
c.6091del (p.Ala2031LeufsTer26)
c.5392del (p.Ala1798LeufsTer26)
c.6139del (p.Ala2047LeufsTer26)
 dbSNP
16g.3728903C>ACA493393807CREBBPc.6144G>T (p.Val2048=)
c.6030G>T (p.Val2010=)
c.6099G>T (p.Val2033=)
c.5727G>T (p.Val1909=)
c.5883G>T (p.Val1961=)
c.6090G>T (p.Val2030=)
c.5391G>T (p.Val1797=)
c.6138G>T (p.Val2046=)
16g.3728903C>GCA493393808CREBBPc.6144G>C (p.Val2048=)
c.6030G>C (p.Val2010=)
c.6099G>C (p.Val2033=)
c.5727G>C (p.Val1909=)
c.5883G>C (p.Val1961=)
c.6090G>C (p.Val2030=)
c.5391G>C (p.Val1797=)
c.6138G>C (p.Val2046=)
 dbSNP gnomAD v4
16g.3728903C>TCA493393809CREBBPc.6144G>A (p.Val2048=)
c.6030G>A (p.Val2010=)
c.6099G>A (p.Val2033=)
c.5727G>A (p.Val1909=)
c.5883G>A (p.Val1961=)
c.6090G>A (p.Val2030=)
c.5391G>A (p.Val1797=)
c.6138G>A (p.Val2046=)
16g.3728904A>CCA394554082CREBBPc.6143T>G (p.Val2048Gly)
c.6029T>G (p.Val2010Gly)
c.6098T>G (p.Val2033Gly)
c.5726T>G (p.Val1909Gly)
c.5882T>G (p.Val1961Gly)
c.6089T>G (p.Val2030Gly)
c.5390T>G (p.Val1797Gly)
c.6137T>G (p.Val2046Gly)
 dbSNP
16g.3728904A>GCA394554084CREBBPc.6143T>C (p.Val2048Ala)
c.6029T>C (p.Val2010Ala)
c.6098T>C (p.Val2033Ala)
c.5726T>C (p.Val1909Ala)
c.5882T>C (p.Val1961Ala)
c.6089T>C (p.Val2030Ala)
c.5390T>C (p.Val1797Ala)
c.6137T>C (p.Val2046Ala)
 dbSNP
16g.3728904A>TCA394554086CREBBPc.6143T>A (p.Val2048Glu)
c.6029T>A (p.Val2010Glu)
c.6098T>A (p.Val2033Glu)
c.5726T>A (p.Val1909Glu)
c.5882T>A (p.Val1961Glu)
c.6089T>A (p.Val2030Glu)
c.5390T>A (p.Val1797Glu)
c.6137T>A (p.Val2046Glu)
 dbSNP
16g.3728905C>ACA394554088CREBBPc.6142G>T (p.Val2048Leu)
c.6028G>T (p.Val2010Leu)
c.6097G>T (p.Val2033Leu)
c.5725G>T (p.Val1909Leu)
c.5881G>T (p.Val1961Leu)
c.6088G>T (p.Val2030Leu)
c.5389G>T (p.Val1797Leu)
c.6136G>T (p.Val2046Leu)
 gnomAD v4
16g.3728905C=CA2202916108CREBBPc.6142G= (p.Val2048=)
c.6028G= (p.Val2010=)
c.6097G= (p.Val2033=)
c.5725G= (p.Val1909=)
c.5881G= (p.Val1961=)
c.6088G= (p.Val2030=)
c.5389G= (p.Val1797=)
c.6136G= (p.Val2046=)
16g.3728905C>GCA394554090CREBBPc.6142G>C (p.Val2048Leu)
c.6028G>C (p.Val2010Leu)
c.6097G>C (p.Val2033Leu)
c.5725G>C (p.Val1909Leu)
c.5881G>C (p.Val1961Leu)
c.6088G>C (p.Val2030Leu)
c.5389G>C (p.Val1797Leu)
c.6136G>C (p.Val2046Leu)
 dbSNP
16g.3728905C>TCA7869172CREBBPc.6142G>A (p.Val2048Met)
c.6028G>A (p.Val2010Met)
c.6097G>A (p.Val2033Met)
c.5725G>A (p.Val1909Met)
c.5881G>A (p.Val1961Met)
c.6088G>A (p.Val2030Met)
c.5389G>A (p.Val1797Met)
c.6136G>A (p.Val2046Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728905_3728906insTCA645575157CREBBPc.6141_6142insA (p.Val2048SerfsTer?)
c.6027_6028insA (p.Val2010SerfsTer?)
c.6096_6097insA (p.Val2033SerfsTer?)
c.5724_5725insA (p.Val1909SerfsTer?)
c.5880_5881insA (p.Val1961SerfsTer?)
c.6087_6088insA (p.Val2030SerfsTer?)
c.5388_5389insA (p.Val1797SerfsTer?)
c.6135_6136insA (p.Val2046SerfsTer?)
 COSMIC
16g.3728906G>ACA7869173CREBBPc.6141C>T (p.Ala2047=)
c.6027C>T (p.Ala2009=)
c.6096C>T (p.Ala2032=)
c.5724C>T (p.Ala1908=)
c.5880C>T (p.Ala1960=)
c.6087C>T (p.Ala2029=)
c.5388C>T (p.Ala1796=)
c.6135C>T (p.Ala2045=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728906G>CCA493393815CREBBPc.6141C>G (p.Ala2047=)
c.6027C>G (p.Ala2009=)
c.6096C>G (p.Ala2032=)
c.5724C>G (p.Ala1908=)
c.5880C>G (p.Ala1960=)
c.6087C>G (p.Ala2029=)
c.5388C>G (p.Ala1796=)
c.6135C>G (p.Ala2045=)
16g.3728906G=CA2202916109CREBBPc.6141C= (p.Ala2047=)
c.6027C= (p.Ala2009=)
c.6096C= (p.Ala2032=)
c.5724C= (p.Ala1908=)
c.5880C= (p.Ala1960=)
c.6087C= (p.Ala2029=)
c.5388C= (p.Ala1796=)
c.6135C= (p.Ala2045=)
16g.3728906G>TCA493393816CREBBPc.6141C>A (p.Ala2047=)
c.6027C>A (p.Ala2009=)
c.6096C>A (p.Ala2032=)
c.5724C>A (p.Ala1908=)
c.5880C>A (p.Ala1960=)
c.6087C>A (p.Ala2029=)
c.5388C>A (p.Ala1796=)
c.6135C>A (p.Ala2045=)
 gnomAD v4
16g.3728907G>ACA394554095CREBBPc.6140C>T (p.Ala2047Val)
c.6026C>T (p.Ala2009Val)
c.6095C>T (p.Ala2032Val)
c.5723C>T (p.Ala1908Val)
c.5879C>T (p.Ala1960Val)
c.6086C>T (p.Ala2029Val)
c.5387C>T (p.Ala1796Val)
c.6134C>T (p.Ala2045Val)
 dbSNP
16g.3728907G>CCA394554097CREBBPc.6140C>G (p.Ala2047Gly)
c.6026C>G (p.Ala2009Gly)
c.6095C>G (p.Ala2032Gly)
c.5723C>G (p.Ala1908Gly)
c.5879C>G (p.Ala1960Gly)
c.6086C>G (p.Ala2029Gly)
c.5387C>G (p.Ala1796Gly)
c.6134C>G (p.Ala2045Gly)
 dbSNP
16g.3728907G>TCA394554098CREBBPc.6140C>A (p.Ala2047Asp)
c.6026C>A (p.Ala2009Asp)
c.6095C>A (p.Ala2032Asp)
c.5723C>A (p.Ala1908Asp)
c.5879C>A (p.Ala1960Asp)
c.6086C>A (p.Ala2029Asp)
c.5387C>A (p.Ala1796Asp)
c.6134C>A (p.Ala2045Asp)
 dbSNP
16g.3728908C>ACA394554103CREBBPc.6139G>T (p.Ala2047Ser)
c.6025G>T (p.Ala2009Ser)
c.6094G>T (p.Ala2032Ser)
c.5722G>T (p.Ala1908Ser)
c.5878G>T (p.Ala1960Ser)
c.6085G>T (p.Ala2029Ser)
c.5386G>T (p.Ala1796Ser)
c.6133G>T (p.Ala2045Ser)
 dbSNP
16g.3728908C>GCA394554104CREBBPc.6139G>C (p.Ala2047Pro)
c.6025G>C (p.Ala2009Pro)
c.6094G>C (p.Ala2032Pro)
c.5722G>C (p.Ala1908Pro)
c.5878G>C (p.Ala1960Pro)
c.6085G>C (p.Ala2029Pro)
c.5386G>C (p.Ala1796Pro)
c.6133G>C (p.Ala2045Pro)
 dbSNP
16g.3728908C>TCA394554101CREBBPc.6139G>A (p.Ala2047Thr)
c.6025G>A (p.Ala2009Thr)
c.6094G>A (p.Ala2032Thr)
c.5722G>A (p.Ala1908Thr)
c.5878G>A (p.Ala1960Thr)
c.6085G>A (p.Ala2029Thr)
c.5386G>A (p.Ala1796Thr)
c.6133G>A (p.Ala2045Thr)
 dbSNP
16g.3728909C>ACA7869175CREBBPc.6138G>T (p.Ala2046=)
c.6024G>T (p.Ala2008=)
c.6093G>T (p.Ala2031=)
c.5721G>T (p.Ala1907=)
c.5877G>T (p.Ala1959=)
c.6084G>T (p.Ala2028=)
c.5385G>T (p.Ala1795=)
c.6132G>T (p.Ala2044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728909C=CA2202916111CREBBPc.6138G= (p.Ala2046=)
c.6024G= (p.Ala2008=)
c.6093G= (p.Ala2031=)
c.5721G= (p.Ala1907=)
c.5877G= (p.Ala1959=)
c.6084G= (p.Ala2028=)
c.5385G= (p.Ala1795=)
c.6132G= (p.Ala2044=)
16g.3728909C>GCA493393818CREBBPc.6138G>C (p.Ala2046=)
c.6024G>C (p.Ala2008=)
c.6093G>C (p.Ala2031=)
c.5721G>C (p.Ala1907=)
c.5877G>C (p.Ala1959=)
c.6084G>C (p.Ala2028=)
c.5385G>C (p.Ala1795=)
c.6132G>C (p.Ala2044=)
16g.3728909C>TCA7869174CREBBPc.6138G>A (p.Ala2046=)
c.6024G>A (p.Ala2008=)
c.6093G>A (p.Ala2031=)
c.5721G>A (p.Ala1907=)
c.5877G>A (p.Ala1959=)
c.6084G>A (p.Ala2028=)
c.5385G>A (p.Ala1795=)
c.6132G>A (p.Ala2044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728909_3728934delinsCGCCTGGGCCTGCATGGATATCACAGCA2202916110CREBBPc.6113_6138delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2038=)
c.5999_6024delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2000=)
c.6068_6093delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2023=)
c.5696_5721delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1899=)
c.5852_5877delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1951=)
c.6059_6084delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2020=)
c.5360_5385delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1787=)
c.6107_6132delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2036=)
16g.3728910G>ACA7869177CREBBPc.6137C>T (p.Ala2046Val)
c.6023C>T (p.Ala2008Val)
c.6092C>T (p.Ala2031Val)
c.5720C>T (p.Ala1907Val)
c.5876C>T (p.Ala1959Val)
c.6083C>T (p.Ala2028Val)
c.5384C>T (p.Ala1795Val)
c.6131C>T (p.Ala2044Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728910G>CCA394554108CREBBPc.6137C>G (p.Ala2046Gly)
c.6023C>G (p.Ala2008Gly)
c.6092C>G (p.Ala2031Gly)
c.5720C>G (p.Ala1907Gly)
c.5876C>G (p.Ala1959Gly)
c.6083C>G (p.Ala2028Gly)
c.5384C>G (p.Ala1795Gly)
c.6131C>G (p.Ala2044Gly)
 dbSNP
16g.3728910G=CA2202916112CREBBPc.6137C= (p.Ala2046=)
c.6023C= (p.Ala2008=)
c.6092C= (p.Ala2031=)
c.5720C= (p.Ala1907=)
c.5876C= (p.Ala1959=)
c.6083C= (p.Ala2028=)
c.5384C= (p.Ala1795=)
c.6131C= (p.Ala2044=)
16g.3728910G>TCA7869176CREBBPc.6137C>A (p.Ala2046Glu)
c.6023C>A (p.Ala2008Glu)
c.6092C>A (p.Ala2031Glu)
c.5720C>A (p.Ala1907Glu)
c.5876C>A (p.Ala1959Glu)
c.6083C>A (p.Ala2028Glu)
c.5384C>A (p.Ala1795Glu)
c.6131C>A (p.Ala2044Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728918_3728942dupCA915949062CREBBPc.6113_6137dup (p.Ala2047CysfsTer?)
c.5999_6023dup (p.Ala2009CysfsTer?)
c.6068_6092dup (p.Ala2032CysfsTer?)
c.5696_5720dup (p.Ala1908CysfsTer?)
c.5852_5876dup (p.Ala1960CysfsTer?)
c.6059_6083dup (p.Ala2029CysfsTer?)
c.5360_5384dup (p.Ala1796CysfsTer?)
c.6107_6131dup (p.Ala2045CysfsTer?)
 ClinVar dbSNP
16g.3728918_3728942delCA915949063CREBBPc.6113_6137del (p.Pro2038ArgfsTer29)
c.5999_6023del (p.Pro2000ArgfsTer29)
c.6068_6092del (p.Pro2023ArgfsTer29)
c.5696_5720del (p.Pro1899ArgfsTer29)
c.5852_5876del (p.Pro1951ArgfsTer29)
c.6059_6083del (p.Pro2020ArgfsTer29)
c.5360_5384del (p.Pro1787ArgfsTer29)
c.6107_6131del (p.Pro2036ArgfsTer29)
 ClinVar dbSNP
16g.3728911C>ACA394554111CREBBPc.6136G>T (p.Ala2046Ser)
c.6022G>T (p.Ala2008Ser)
c.6091G>T (p.Ala2031Ser)
c.5719G>T (p.Ala1907Ser)
c.5875G>T (p.Ala1959Ser)
c.6082G>T (p.Ala2028Ser)
c.5383G>T (p.Ala1795Ser)
c.6130G>T (p.Ala2044Ser)
 gnomAD v4
16g.3728911C>GCA394554113CREBBPc.6136G>C (p.Ala2046Pro)
c.6022G>C (p.Ala2008Pro)
c.6091G>C (p.Ala2031Pro)
c.5719G>C (p.Ala1907Pro)
c.5875G>C (p.Ala1959Pro)
c.6082G>C (p.Ala2028Pro)
c.5383G>C (p.Ala1795Pro)
c.6130G>C (p.Ala2044Pro)
 dbSNP
16g.3728911C>TCA394554115CREBBPc.6136G>A (p.Ala2046Thr)
c.6022G>A (p.Ala2008Thr)
c.6091G>A (p.Ala2031Thr)
c.5719G>A (p.Ala1907Thr)
c.5875G>A (p.Ala1959Thr)
c.6082G>A (p.Ala2028Thr)
c.5383G>A (p.Ala1795Thr)
c.6130G>A (p.Ala2044Thr)
16g.3728912C>ACA394554117CREBBPc.6135G>T (p.Gln2045His)
c.6021G>T (p.Gln2007His)
c.6090G>T (p.Gln2030His)
c.5718G>T (p.Gln1906His)
c.5874G>T (p.Gln1958His)
c.6081G>T (p.Gln2027His)
c.5382G>T (p.Gln1794His)
c.6129G>T (p.Gln2043His)
16g.3728912C>GCA394554119CREBBPc.6135G>C (p.Gln2045His)
c.6021G>C (p.Gln2007His)
c.6090G>C (p.Gln2030His)
c.5718G>C (p.Gln1906His)
c.5874G>C (p.Gln1958His)
c.6081G>C (p.Gln2027His)
c.5382G>C (p.Gln1794His)
c.6129G>C (p.Gln2043His)
 dbSNP
16g.3728912C>TCA493393823CREBBPc.6135G>A (p.Gln2045=)
c.6021G>A (p.Gln2007=)
c.6090G>A (p.Gln2030=)
c.5718G>A (p.Gln1906=)
c.5874G>A (p.Gln1958=)
c.6081G>A (p.Gln2027=)
c.5382G>A (p.Gln1794=)
c.6129G>A (p.Gln2043=)
 dbSNP
16g.3728913T>ACA394554120CREBBPc.6134A>T (p.Gln2045Leu)
c.6020A>T (p.Gln2007Leu)
c.6089A>T (p.Gln2030Leu)
c.5717A>T (p.Gln1906Leu)
c.5873A>T (p.Gln1958Leu)
c.6080A>T (p.Gln2027Leu)
c.5381A>T (p.Gln1794Leu)
c.6128A>T (p.Gln2043Leu)
 dbSNP
16g.3728913T>CCA394554121CREBBPc.6134A>G (p.Gln2045Arg)
c.6020A>G (p.Gln2007Arg)
c.6089A>G (p.Gln2030Arg)
c.5717A>G (p.Gln1906Arg)
c.5873A>G (p.Gln1958Arg)
c.6080A>G (p.Gln2027Arg)
c.5381A>G (p.Gln1794Arg)
c.6128A>G (p.Gln2043Arg)
16g.3728913T>GCA394554122CREBBPc.6134A>C (p.Gln2045Pro)
c.6020A>C (p.Gln2007Pro)
c.6089A>C (p.Gln2030Pro)
c.5717A>C (p.Gln1906Pro)
c.5873A>C (p.Gln1958Pro)
c.6080A>C (p.Gln2027Pro)
c.5381A>C (p.Gln1794Pro)
c.6128A>C (p.Gln2043Pro)
16g.3728914G>ACA394554128CREBBPc.6133C>T (p.Gln2045Ter)
c.6019C>T (p.Gln2007Ter)
c.6088C>T (p.Gln2030Ter)
c.5716C>T (p.Gln1906Ter)
c.5872C>T (p.Gln1958Ter)
c.6079C>T (p.Gln2027Ter)
c.5380C>T (p.Gln1794Ter)
c.6127C>T (p.Gln2043Ter)
 ClinVar dbSNP
16g.3728914G>CCA394554126CREBBPc.6133C>G (p.Gln2045Glu)
c.6019C>G (p.Gln2007Glu)
c.6088C>G (p.Gln2030Glu)
c.5716C>G (p.Gln1906Glu)
c.5872C>G (p.Gln1958Glu)
c.6079C>G (p.Gln2027Glu)
c.5380C>G (p.Gln1794Glu)
c.6127C>G (p.Gln2043Glu)
 dbSNP
16g.3728914G>TCA394554124CREBBPc.6133C>A (p.Gln2045Lys)
c.6019C>A (p.Gln2007Lys)
c.6088C>A (p.Gln2030Lys)
c.5716C>A (p.Gln1906Lys)
c.5872C>A (p.Gln1958Lys)
c.6079C>A (p.Gln2027Lys)
c.5380C>A (p.Gln1794Lys)
c.6127C>A (p.Gln2043Lys)
 dbSNP
16g.3728915G>ACA493393824CREBBPc.6132C>T (p.Ala2044=)
c.6018C>T (p.Ala2006=)
c.6087C>T (p.Ala2029=)
c.5715C>T (p.Ala1905=)
c.5871C>T (p.Ala1957=)
c.6078C>T (p.Ala2026=)
c.5379C>T (p.Ala1793=)
c.6126C>T (p.Ala2042=)
 dbSNP
16g.3728915G>CCA493393825CREBBPc.6132C>G (p.Ala2044=)
c.6018C>G (p.Ala2006=)
c.6087C>G (p.Ala2029=)
c.5715C>G (p.Ala1905=)
c.5871C>G (p.Ala1957=)
c.6078C>G (p.Ala2026=)
c.5379C>G (p.Ala1793=)
c.6126C>G (p.Ala2042=)
 dbSNP
16g.3728915G>TCA493393826CREBBPc.6132C>A (p.Ala2044=)
c.6018C>A (p.Ala2006=)
c.6087C>A (p.Ala2029=)
c.5715C>A (p.Ala1905=)
c.5871C>A (p.Ala1957=)
c.6078C>A (p.Ala2026=)
c.5379C>A (p.Ala1793=)
c.6126C>A (p.Ala2042=)
 dbSNP gnomAD v4 COSMIC
16g.3728916G>ACA7869178CREBBPc.6131C>T (p.Ala2044Val)
c.6017C>T (p.Ala2006Val)
c.6086C>T (p.Ala2029Val)
c.5714C>T (p.Ala1905Val)
c.5870C>T (p.Ala1957Val)
c.6077C>T (p.Ala2026Val)
c.5378C>T (p.Ala1793Val)
c.6125C>T (p.Ala2042Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728916G>CCA394554131CREBBPc.6131C>G (p.Ala2044Gly)
c.6017C>G (p.Ala2006Gly)
c.6086C>G (p.Ala2029Gly)
c.5714C>G (p.Ala1905Gly)
c.5870C>G (p.Ala1957Gly)
c.6077C>G (p.Ala2026Gly)
c.5378C>G (p.Ala1793Gly)
c.6125C>G (p.Ala2042Gly)
 dbSNP
16g.3728916G=CA2202916113CREBBPc.6131C= (p.Ala2044=)
c.6017C= (p.Ala2006=)
c.6086C= (p.Ala2029=)
c.5714C= (p.Ala1905=)
c.5870C= (p.Ala1957=)
c.6077C= (p.Ala2026=)
c.5378C= (p.Ala1793=)
c.6125C= (p.Ala2042=)
16g.3728916G>TCA394554133CREBBPc.6131C>A (p.Ala2044Asp)
c.6017C>A (p.Ala2006Asp)
c.6086C>A (p.Ala2029Asp)
c.5714C>A (p.Ala1905Asp)
c.5870C>A (p.Ala1957Asp)
c.6077C>A (p.Ala2026Asp)
c.5378C>A (p.Ala1793Asp)
c.6125C>A (p.Ala2042Asp)
 dbSNP gnomAD v4
16g.3728917C>ACA394554136CREBBPc.6130G>T (p.Ala2044Ser)
c.6016G>T (p.Ala2006Ser)
c.6085G>T (p.Ala2029Ser)
c.5713G>T (p.Ala1905Ser)
c.5869G>T (p.Ala1957Ser)
c.6076G>T (p.Ala2026Ser)
c.5377G>T (p.Ala1793Ser)
c.6124G>T (p.Ala2042Ser)
 dbSNP gnomAD v4 COSMIC
16g.3728917C=CA2202916114CREBBPc.6130G= (p.Ala2044=)
c.6016G= (p.Ala2006=)
c.6085G= (p.Ala2029=)
c.5713G= (p.Ala1905=)
c.5869G= (p.Ala1957=)
c.6076G= (p.Ala2026=)
c.5377G= (p.Ala1793=)
c.6124G= (p.Ala2042=)
16g.3728917C>GCA394554137CREBBPc.6130G>C (p.Ala2044Pro)
c.6016G>C (p.Ala2006Pro)
c.6085G>C (p.Ala2029Pro)
c.5713G>C (p.Ala1905Pro)
c.5869G>C (p.Ala1957Pro)
c.6076G>C (p.Ala2026Pro)
c.5377G>C (p.Ala1793Pro)
c.6124G>C (p.Ala2042Pro)
 dbSNP
16g.3728917C>TCA394554139CREBBPc.6130G>A (p.Ala2044Thr)
c.6016G>A (p.Ala2006Thr)
c.6085G>A (p.Ala2029Thr)
c.5713G>A (p.Ala1905Thr)
c.5869G>A (p.Ala1957Thr)
c.6076G>A (p.Ala2026Thr)
c.5377G>A (p.Ala1793Thr)
c.6124G>A (p.Ala2042Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728918C>ACA394554142CREBBPc.6129G>T (p.Gln2043His)
c.6015G>T (p.Gln2005His)
c.6084G>T (p.Gln2028His)
c.5712G>T (p.Gln1904His)
c.5868G>T (p.Gln1956His)
c.6075G>T (p.Gln2025His)
c.5376G>T (p.Gln1792His)
c.6123G>T (p.Gln2041His)
16g.3728918C>GCA394554143CREBBPc.6129G>C (p.Gln2043His)
c.6015G>C (p.Gln2005His)
c.6084G>C (p.Gln2028His)
c.5712G>C (p.Gln1904His)
c.5868G>C (p.Gln1956His)
c.6075G>C (p.Gln2025His)
c.5376G>C (p.Gln1792His)
c.6123G>C (p.Gln2041His)
 dbSNP
16g.3728918C>TCA493393827CREBBPc.6129G>A (p.Gln2043=)
c.6015G>A (p.Gln2005=)
c.6084G>A (p.Gln2028=)
c.5712G>A (p.Gln1904=)
c.5868G>A (p.Gln1956=)
c.6075G>A (p.Gln2025=)
c.5376G>A (p.Gln1792=)
c.6123G>A (p.Gln2041=)
 gnomAD v4
16g.3728919T>ACA394554144CREBBPc.6128A>T (p.Gln2043Leu)
c.6014A>T (p.Gln2005Leu)
c.6083A>T (p.Gln2028Leu)
c.5711A>T (p.Gln1904Leu)
c.5867A>T (p.Gln1956Leu)
c.6074A>T (p.Gln2025Leu)
c.5375A>T (p.Gln1792Leu)
c.6122A>T (p.Gln2041Leu)
 dbSNP
16g.3728919T>CCA394554146CREBBPc.6128A>G (p.Gln2043Arg)
c.6014A>G (p.Gln2005Arg)
c.6083A>G (p.Gln2028Arg)
c.5711A>G (p.Gln1904Arg)
c.5867A>G (p.Gln1956Arg)
c.6074A>G (p.Gln2025Arg)
c.5375A>G (p.Gln1792Arg)
c.6122A>G (p.Gln2041Arg)
 dbSNP gnomAD v4
16g.3728919T>GCA394554148CREBBPc.6128A>C (p.Gln2043Pro)
c.6014A>C (p.Gln2005Pro)
c.6083A>C (p.Gln2028Pro)
c.5711A>C (p.Gln1904Pro)
c.5867A>C (p.Gln1956Pro)
c.6074A>C (p.Gln2025Pro)
c.5375A>C (p.Gln1792Pro)
c.6122A>C (p.Gln2041Pro)
 dbSNP
16g.3728920G>ACA394554150CREBBPc.6127C>T (p.Gln2043Ter)
c.6013C>T (p.Gln2005Ter)
c.6082C>T (p.Gln2028Ter)
c.5710C>T (p.Gln1904Ter)
c.5866C>T (p.Gln1956Ter)
c.6073C>T (p.Gln2025Ter)
c.5374C>T (p.Gln1792Ter)
c.6121C>T (p.Gln2041Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.3728920G>CCA394554152CREBBPc.6127C>G (p.Gln2043Glu)
c.6013C>G (p.Gln2005Glu)
c.6082C>G (p.Gln2028Glu)
c.5710C>G (p.Gln1904Glu)
c.5866C>G (p.Gln1956Glu)
c.6073C>G (p.Gln2025Glu)
c.5374C>G (p.Gln1792Glu)
c.6121C>G (p.Gln2041Glu)
 dbSNP
16g.3728920G=CA2202916115CREBBPc.6127C= (p.Gln2043=)
c.6013C= (p.Gln2005=)
c.6082C= (p.Gln2028=)
c.5710C= (p.Gln1904=)
c.5866C= (p.Gln1956=)
c.6073C= (p.Gln2025=)
c.5374C= (p.Gln1792=)
c.6121C= (p.Gln2041=)
16g.3728920G>TCA394554154CREBBPc.6127C>A (p.Gln2043Lys)
c.6013C>A (p.Gln2005Lys)
c.6082C>A (p.Gln2028Lys)
c.5710C>A (p.Gln1904Lys)
c.5866C>A (p.Gln1956Lys)
c.6073C>A (p.Gln2025Lys)
c.5374C>A (p.Gln1792Lys)
c.6121C>A (p.Gln2041Lys)
 gnomAD v4
16g.3728921C>ACA276971775CREBBPc.6126G>T (p.Met2042Ile)
c.6012G>T (p.Met2004Ile)
c.6081G>T (p.Met2027Ile)
c.5709G>T (p.Met1903Ile)
c.5865G>T (p.Met1955Ile)
c.6072G>T (p.Met2024Ile)
c.5373G>T (p.Met1791Ile)
c.6120G>T (p.Met2040Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3728921C=CA2202916116CREBBPc.6126G= (p.Met2042=)
c.6012G= (p.Met2004=)
c.6081G= (p.Met2027=)
c.5709G= (p.Met1903=)
c.5865G= (p.Met1955=)
c.6072G= (p.Met2024=)
c.5373G= (p.Met1791=)
c.6120G= (p.Met2040=)
16g.3728921C>GCA394554159CREBBPc.6126G>C (p.Met2042Ile)
c.6012G>C (p.Met2004Ile)
c.6081G>C (p.Met2027Ile)
c.5709G>C (p.Met1903Ile)
c.5865G>C (p.Met1955Ile)
c.6072G>C (p.Met2024Ile)
c.5373G>C (p.Met1791Ile)
c.6120G>C (p.Met2040Ile)
 dbSNP
16g.3728921C>TCA394554157CREBBPc.6126G>A (p.Met2042Ile)
c.6012G>A (p.Met2004Ile)
c.6081G>A (p.Met2027Ile)
c.5709G>A (p.Met1903Ile)
c.5865G>A (p.Met1955Ile)
c.6072G>A (p.Met2024Ile)
c.5373G>A (p.Met1791Ile)
c.6120G>A (p.Met2040Ile)
 dbSNP gnomAD v4
16g.3728922A>CCA394554163CREBBPc.6125T>G (p.Met2042Arg)
c.6011T>G (p.Met2004Arg)
c.6080T>G (p.Met2027Arg)
c.5708T>G (p.Met1903Arg)
c.5864T>G (p.Met1955Arg)
c.6071T>G (p.Met2024Arg)
c.5372T>G (p.Met1791Arg)
c.6119T>G (p.Met2040Arg)
16g.3728922A>GCA394554166CREBBPc.6125T>C (p.Met2042Thr)
c.6011T>C (p.Met2004Thr)
c.6080T>C (p.Met2027Thr)
c.5708T>C (p.Met1903Thr)
c.5864T>C (p.Met1955Thr)
c.6071T>C (p.Met2024Thr)
c.5372T>C (p.Met1791Thr)
c.6119T>C (p.Met2040Thr)
 gnomAD v4
16g.3728922A>TCA394554164CREBBPc.6125T>A (p.Met2042Lys)
c.6011T>A (p.Met2004Lys)
c.6080T>A (p.Met2027Lys)
c.5708T>A (p.Met1903Lys)
c.5864T>A (p.Met1955Lys)
c.6071T>A (p.Met2024Lys)
c.5372T>A (p.Met1791Lys)
c.6119T>A (p.Met2040Lys)
16g.3728924_3728927delCA2695222741CREBBPc.6122_6125del (p.Ser2041CysfsTer?)
c.6008_6011del (p.Ser2003CysfsTer?)
c.6077_6080del (p.Ser2026CysfsTer?)
c.5705_5708del (p.Ser1902CysfsTer?)
c.5861_5864del (p.Ser1954CysfsTer?)
c.6068_6071del (p.Ser2023CysfsTer?)
c.5369_5372del (p.Ser1790CysfsTer?)
c.6116_6119del (p.Ser2039CysfsTer?)
16g.3728923T>ACA394554169CREBBPc.6124A>T (p.Met2042Leu)
c.6010A>T (p.Met2004Leu)
c.6079A>T (p.Met2027Leu)
c.5707A>T (p.Met1903Leu)
c.5863A>T (p.Met1955Leu)
c.6070A>T (p.Met2024Leu)
c.5371A>T (p.Met1791Leu)
c.6118A>T (p.Met2040Leu)
 ClinVar
16g.3728923T>CCA394554172CREBBPc.6124A>G (p.Met2042Val)
c.6010A>G (p.Met2004Val)
c.6079A>G (p.Met2027Val)
c.5707A>G (p.Met1903Val)
c.5863A>G (p.Met1955Val)
c.6070A>G (p.Met2024Val)
c.5371A>G (p.Met1791Val)
c.6118A>G (p.Met2040Val)
16g.3728923T>GCA394554170CREBBPc.6124A>C (p.Met2042Leu)
c.6010A>C (p.Met2004Leu)
c.6079A>C (p.Met2027Leu)
c.5707A>C (p.Met1903Leu)
c.5863A>C (p.Met1955Leu)
c.6070A>C (p.Met2024Leu)
c.5371A>C (p.Met1791Leu)
c.6118A>C (p.Met2040Leu)
16g.3728924G>ACA7869179CREBBPc.6123C>T (p.Ser2041=)
c.6009C>T (p.Ser2003=)
c.6078C>T (p.Ser2026=)
c.5706C>T (p.Ser1902=)
c.5862C>T (p.Ser1954=)
c.6069C>T (p.Ser2023=)
c.5370C>T (p.Ser1790=)
c.6117C>T (p.Ser2039=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728924G>CCA493393828CREBBPc.6123C>G (p.Ser2041=)
c.6009C>G (p.Ser2003=)
c.6078C>G (p.Ser2026=)
c.5706C>G (p.Ser1902=)
c.5862C>G (p.Ser1954=)
c.6069C>G (p.Ser2023=)
c.5370C>G (p.Ser1790=)
c.6117C>G (p.Ser2039=)
16g.3728924G=CA2202916117CREBBPc.6123C= (p.Ser2041=)
c.6009C= (p.Ser2003=)
c.6078C= (p.Ser2026=)
c.5706C= (p.Ser1902=)
c.5862C= (p.Ser1954=)
c.6069C= (p.Ser2023=)
c.5370C= (p.Ser1790=)
c.6117C= (p.Ser2039=)
16g.3728924G>TCA493393829CREBBPc.6123C>A (p.Ser2041=)
c.6009C>A (p.Ser2003=)
c.6078C>A (p.Ser2026=)
c.5706C>A (p.Ser1902=)
c.5862C>A (p.Ser1954=)
c.6069C>A (p.Ser2023=)
c.5370C>A (p.Ser1790=)
c.6117C>A (p.Ser2039=)
 dbSNP
16g.3728925delCA2740093245CREBBPc.6123del (p.Met2042CysfsTer?)
c.6009del (p.Met2004CysfsTer?)
c.6078del (p.Met2027CysfsTer?)
c.5706del (p.Met1903CysfsTer?)
c.5862del (p.Met1955CysfsTer?)
c.6069del (p.Met2024CysfsTer?)
c.5370del (p.Met1791CysfsTer?)
c.6117del (p.Met2040CysfsTer?)
 ClinVar
16g.3728925G>ACA394554175CREBBPc.6122C>T (p.Ser2041Phe)
c.6008C>T (p.Ser2003Phe)
c.6077C>T (p.Ser2026Phe)
c.5705C>T (p.Ser1902Phe)
c.5861C>T (p.Ser1954Phe)
c.6068C>T (p.Ser2023Phe)
c.5369C>T (p.Ser1790Phe)
c.6116C>T (p.Ser2039Phe)
 dbSNP gnomAD v4
16g.3728925G>CCA394554176CREBBPc.6122C>G (p.Ser2041Cys)
c.6008C>G (p.Ser2003Cys)
c.6077C>G (p.Ser2026Cys)
c.5705C>G (p.Ser1902Cys)
c.5861C>G (p.Ser1954Cys)
c.6068C>G (p.Ser2023Cys)
c.5369C>G (p.Ser1790Cys)
c.6116C>G (p.Ser2039Cys)
 dbSNP
16g.3728925G>TCA394554177CREBBPc.6122C>A (p.Ser2041Tyr)
c.6008C>A (p.Ser2003Tyr)
c.6077C>A (p.Ser2026Tyr)
c.5705C>A (p.Ser1902Tyr)
c.5861C>A (p.Ser1954Tyr)
c.6068C>A (p.Ser2023Tyr)
c.5369C>A (p.Ser1790Tyr)
c.6116C>A (p.Ser2039Tyr)
 dbSNP
16g.3728926A=CA2202916118CREBBPc.6121T= (p.Ser2041=)
c.6007T= (p.Ser2003=)
c.6076T= (p.Ser2026=)
c.5704T= (p.Ser1902=)
c.5860T= (p.Ser1954=)
c.6067T= (p.Ser2023=)
c.5368T= (p.Ser1790=)
c.6115T= (p.Ser2039=)
16g.3728926A>CCA7869180CREBBPc.6121T>G (p.Ser2041Ala)
c.6007T>G (p.Ser2003Ala)
c.6076T>G (p.Ser2026Ala)
c.5704T>G (p.Ser1902Ala)
c.5860T>G (p.Ser1954Ala)
c.6067T>G (p.Ser2023Ala)
c.5368T>G (p.Ser1790Ala)
c.6115T>G (p.Ser2039Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728926A>GCA394554178CREBBPc.6121T>C (p.Ser2041Pro)
c.6007T>C (p.Ser2003Pro)
c.6076T>C (p.Ser2026Pro)
c.5704T>C (p.Ser1902Pro)
c.5860T>C (p.Ser1954Pro)
c.6067T>C (p.Ser2023Pro)
c.5368T>C (p.Ser1790Pro)
c.6115T>C (p.Ser2039Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728926A>TCA394554179CREBBPc.6121T>A (p.Ser2041Thr)
c.6007T>A (p.Ser2003Thr)
c.6076T>A (p.Ser2026Thr)
c.5704T>A (p.Ser1902Thr)
c.5860T>A (p.Ser1954Thr)
c.6067T>A (p.Ser2023Thr)
c.5368T>A (p.Ser1790Thr)
c.6115T>A (p.Ser2039Thr)
16g.3728927T>ACA493393830CREBBPc.6120A>T (p.Ile2040=)
c.6006A>T (p.Ile2002=)
c.6075A>T (p.Ile2025=)
c.5703A>T (p.Ile1901=)
c.5859A>T (p.Ile1953=)
c.6066A>T (p.Ile2022=)
c.5367A>T (p.Ile1789=)
c.6114A>T (p.Ile2038=)
 dbSNP
16g.3728927T>CCA394554180CREBBPc.6120A>G (p.Ile2040Met)
c.6006A>G (p.Ile2002Met)
c.6075A>G (p.Ile2025Met)
c.5703A>G (p.Ile1901Met)
c.5859A>G (p.Ile1953Met)
c.6066A>G (p.Ile2022Met)
c.5367A>G (p.Ile1789Met)
c.6114A>G (p.Ile2038Met)
16g.3728927T>GCA493393831CREBBPc.6120A>C (p.Ile2040=)
c.6006A>C (p.Ile2002=)
c.6075A>C (p.Ile2025=)
c.5703A>C (p.Ile1901=)
c.5859A>C (p.Ile1953=)
c.6066A>C (p.Ile2022=)
c.5367A>C (p.Ile1789=)
c.6114A>C (p.Ile2038=)
16g.3728927T=CA2202916119CREBBPc.6120A= (p.Ile2040=)
c.6006A= (p.Ile2002=)
c.6075A= (p.Ile2025=)
c.5703A= (p.Ile1901=)
c.5859A= (p.Ile1953=)
c.6066A= (p.Ile2022=)
c.5367A= (p.Ile1789=)
c.6114A= (p.Ile2038=)
16g.3728928A=CA2202916120CREBBPc.6119T= (p.Ile2040=)
c.6005T= (p.Ile2002=)
c.6074T= (p.Ile2025=)
c.5702T= (p.Ile1901=)
c.5858T= (p.Ile1953=)
c.6065T= (p.Ile2022=)
c.5366T= (p.Ile1789=)
c.6113T= (p.Ile2038=)
16g.3728928A>CCA394554181CREBBPc.6119T>G (p.Ile2040Arg)
c.6005T>G (p.Ile2002Arg)
c.6074T>G (p.Ile2025Arg)
c.5702T>G (p.Ile1901Arg)
c.5858T>G (p.Ile1953Arg)
c.6065T>G (p.Ile2022Arg)
c.5366T>G (p.Ile1789Arg)
c.6113T>G (p.Ile2038Arg)
 dbSNP
16g.3728928A>GCA394554182CREBBPc.6119T>C (p.Ile2040Thr)
c.6005T>C (p.Ile2002Thr)
c.6074T>C (p.Ile2025Thr)
c.5702T>C (p.Ile1901Thr)
c.5858T>C (p.Ile1953Thr)
c.6065T>C (p.Ile2022Thr)
c.5366T>C (p.Ile1789Thr)
c.6113T>C (p.Ile2038Thr)
 ClinVar dbSNP
16g.3728928A>TCA7869181CREBBPc.6119T>A (p.Ile2040Lys)
c.6005T>A (p.Ile2002Lys)
c.6074T>A (p.Ile2025Lys)
c.5702T>A (p.Ile1901Lys)
c.5858T>A (p.Ile1953Lys)
c.6065T>A (p.Ile2022Lys)
c.5366T>A (p.Ile1789Lys)
c.6113T>A (p.Ile2038Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728929T>ACA394554185CREBBPc.6118A>T (p.Ile2040Leu)
c.6004A>T (p.Ile2002Leu)
c.6073A>T (p.Ile2025Leu)
c.5701A>T (p.Ile1901Leu)
c.5857A>T (p.Ile1953Leu)
c.6064A>T (p.Ile2022Leu)
c.5365A>T (p.Ile1789Leu)
c.6112A>T (p.Ile2038Leu)
16g.3728929T>CCA394554184CREBBPc.6118A>G (p.Ile2040Val)
c.6004A>G (p.Ile2002Val)
c.6073A>G (p.Ile2025Val)
c.5701A>G (p.Ile1901Val)
c.5857A>G (p.Ile1953Val)
c.6064A>G (p.Ile2022Val)
c.5365A>G (p.Ile1789Val)
c.6112A>G (p.Ile2038Val)
 dbSNP gnomAD v3 gnomAD v4
16g.3728929T>GCA394554183CREBBPc.6118A>C (p.Ile2040Leu)
c.6004A>C (p.Ile2002Leu)
c.6073A>C (p.Ile2025Leu)
c.5701A>C (p.Ile1901Leu)
c.5857A>C (p.Ile1953Leu)
c.6064A>C (p.Ile2022Leu)
c.5365A>C (p.Ile1789Leu)
c.6112A>C (p.Ile2038Leu)
 gnomAD v4
16g.3728929T=CA2202916121CREBBPc.6118A= (p.Ile2040=)
c.6004A= (p.Ile2002=)
c.6073A= (p.Ile2025=)
c.5701A= (p.Ile1901=)
c.5857A= (p.Ile1953=)
c.6064A= (p.Ile2022=)
c.5365A= (p.Ile1789=)
c.6112A= (p.Ile2038=)
16g.3728930C>ACA493393833CREBBPc.6117G>T (p.Val2039=)
c.6003G>T (p.Val2001=)
c.6072G>T (p.Val2024=)
c.5700G>T (p.Val1900=)
c.5856G>T (p.Val1952=)
c.6063G>T (p.Val2021=)
c.5364G>T (p.Val1788=)
c.6111G>T (p.Val2037=)
 dbSNP
16g.3728930C>GCA493393834CREBBPc.6117G>C (p.Val2039=)
c.6003G>C (p.Val2001=)
c.6072G>C (p.Val2024=)
c.5700G>C (p.Val1900=)
c.5856G>C (p.Val1952=)
c.6063G>C (p.Val2021=)
c.5364G>C (p.Val1788=)
c.6111G>C (p.Val2037=)
 dbSNP
16g.3728930C>TCA493393832CREBBPc.6117G>A (p.Val2039=)
c.6003G>A (p.Val2001=)
c.6072G>A (p.Val2024=)
c.5700G>A (p.Val1900=)
c.5856G>A (p.Val1952=)
c.6063G>A (p.Val2021=)
c.5364G>A (p.Val1788=)
c.6111G>A (p.Val2037=)
 dbSNP
16g.3728930_3728940delinsCACAGGCCTGGCA2202916122CREBBPc.6107_6117delinsCCAGGCCTGTG (p.Pro2036=)
c.5993_6003delinsCCAGGCCTGTG (p.Pro1998=)
c.6062_6072delinsCCAGGCCTGTG (p.Pro2021=)
c.5690_5700delinsCCAGGCCTGTG (p.Pro1897=)
c.5846_5856delinsCCAGGCCTGTG (p.Pro1949=)
c.6053_6063delinsCCAGGCCTGTG (p.Pro2018=)
c.5354_5364delinsCCAGGCCTGTG (p.Pro1785=)
c.6101_6111delinsCCAGGCCTGTG (p.Pro2034=)
16g.3728931A>CCA394554186CREBBPc.6116T>G (p.Val2039Gly)
c.6002T>G (p.Val2001Gly)
c.6071T>G (p.Val2024Gly)
c.5699T>G (p.Val1900Gly)
c.5855T>G (p.Val1952Gly)
c.6062T>G (p.Val2021Gly)
c.5363T>G (p.Val1788Gly)
c.6110T>G (p.Val2037Gly)
 dbSNP gnomAD v4
16g.3728931A>GCA394554187CREBBPc.6116T>C (p.Val2039Ala)
c.6002T>C (p.Val2001Ala)
c.6071T>C (p.Val2024Ala)
c.5699T>C (p.Val1900Ala)
c.5855T>C (p.Val1952Ala)
c.6062T>C (p.Val2021Ala)
c.5363T>C (p.Val1788Ala)
c.6110T>C (p.Val2037Ala)
 dbSNP gnomAD v4
16g.3728931A>TCA394554188CREBBPc.6116T>A (p.Val2039Glu)
c.6002T>A (p.Val2001Glu)
c.6071T>A (p.Val2024Glu)
c.5699T>A (p.Val1900Glu)
c.5855T>A (p.Val1952Glu)
c.6062T>A (p.Val2021Glu)
c.5363T>A (p.Val1788Glu)
c.6110T>A (p.Val2037Glu)
 dbSNP
16g.3728931_3728940delCA277328CREBBPc.6107_6116del (p.Pro2036ArgfsTer?)
c.5993_6002del (p.Pro1998ArgfsTer?)
c.6062_6071del (p.Pro2021ArgfsTer?)
c.5690_5699del (p.Pro1897ArgfsTer?)
c.5846_5855del (p.Pro1949ArgfsTer?)
c.6053_6062del (p.Pro2018ArgfsTer?)
c.5354_5363del (p.Pro1785ArgfsTer?)
c.6101_6110del (p.Pro2034ArgfsTer?)
 ClinVar dbSNP
16g.3728932C>ACA394554189CREBBPc.6115G>T (p.Val2039Leu)
c.6001G>T (p.Val2001Leu)
c.6070G>T (p.Val2024Leu)
c.5698G>T (p.Val1900Leu)
c.5854G>T (p.Val1952Leu)
c.6061G>T (p.Val2021Leu)
c.5362G>T (p.Val1788Leu)
c.6109G>T (p.Val2037Leu)
 dbSNP gnomAD v4
16g.3728932C=CA2202916123CREBBPc.6115G= (p.Val2039=)
c.6001G= (p.Val2001=)
c.6070G= (p.Val2024=)
c.5698G= (p.Val1900=)
c.5854G= (p.Val1952=)
c.6061G= (p.Val2021=)
c.5362G= (p.Val1788=)
c.6109G= (p.Val2037=)
16g.3728932C>GCA394554190CREBBPc.6115G>C (p.Val2039Leu)
c.6001G>C (p.Val2001Leu)
c.6070G>C (p.Val2024Leu)
c.5698G>C (p.Val1900Leu)
c.5854G>C (p.Val1952Leu)
c.6061G>C (p.Val2021Leu)
c.5362G>C (p.Val1788Leu)
c.6109G>C (p.Val2037Leu)
 dbSNP
16g.3728932C>TCA394554191CREBBPc.6115G>A (p.Val2039Met)
c.6001G>A (p.Val2001Met)
c.6070G>A (p.Val2024Met)
c.5698G>A (p.Val1900Met)
c.5854G>A (p.Val1952Met)
c.6061G>A (p.Val2021Met)
c.5362G>A (p.Val1788Met)
c.6109G>A (p.Val2037Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728933A>CCA493393837CREBBPc.6114T>G (p.Pro2038=)
c.6000T>G (p.Pro2000=)
c.6069T>G (p.Pro2023=)
c.5697T>G (p.Pro1899=)
c.5853T>G (p.Pro1951=)
c.6060T>G (p.Pro2020=)
c.5361T>G (p.Pro1787=)
c.6108T>G (p.Pro2036=)
 dbSNP
16g.3728933A>GCA493393836CREBBPc.6114T>C (p.Pro2038=)
c.6000T>C (p.Pro2000=)
c.6069T>C (p.Pro2023=)
c.5697T>C (p.Pro1899=)
c.5853T>C (p.Pro1951=)
c.6060T>C (p.Pro2020=)
c.5361T>C (p.Pro1787=)
c.6108T>C (p.Pro2036=)
 dbSNP gnomAD v4
16g.3728933A>TCA493393835CREBBPc.6114T>A (p.Pro2038=)
c.6000T>A (p.Pro2000=)
c.6069T>A (p.Pro2023=)
c.5697T>A (p.Pro1899=)
c.5853T>A (p.Pro1951=)
c.6060T>A (p.Pro2020=)
c.5361T>A (p.Pro1787=)
c.6108T>A (p.Pro2036=)
 dbSNP
16g.3728934G>ACA394554192CREBBPc.6113C>T (p.Pro2038Leu)
c.5999C>T (p.Pro2000Leu)
c.6068C>T (p.Pro2023Leu)
c.5696C>T (p.Pro1899Leu)
c.5852C>T (p.Pro1951Leu)
c.6059C>T (p.Pro2020Leu)
c.5360C>T (p.Pro1787Leu)
c.6107C>T (p.Pro2036Leu)
 dbSNP
16g.3728934G>CCA394554193CREBBPc.6113C>G (p.Pro2038Arg)
c.5999C>G (p.Pro2000Arg)
c.6068C>G (p.Pro2023Arg)
c.5696C>G (p.Pro1899Arg)
c.5852C>G (p.Pro1951Arg)
c.6059C>G (p.Pro2020Arg)
c.5360C>G (p.Pro1787Arg)
c.6107C>G (p.Pro2036Arg)
16g.3728934G>TCA394554194CREBBPc.6113C>A (p.Pro2038His)
c.5999C>A (p.Pro2000His)
c.6068C>A (p.Pro2023His)
c.5696C>A (p.Pro1899His)
c.5852C>A (p.Pro1951His)
c.6059C>A (p.Pro2020His)
c.5360C>A (p.Pro1787His)
c.6107C>A (p.Pro2036His)
 dbSNP
16g.3728935G>ACA394554195CREBBPc.6112C>T (p.Pro2038Ser)
c.5998C>T (p.Pro2000Ser)
c.6067C>T (p.Pro2023Ser)
c.5695C>T (p.Pro1899Ser)
c.5851C>T (p.Pro1951Ser)
c.6058C>T (p.Pro2020Ser)
c.5359C>T (p.Pro1787Ser)
c.6106C>T (p.Pro2036Ser)
 dbSNP
16g.3728935G>CCA394554196CREBBPc.6112C>G (p.Pro2038Ala)
c.5998C>G (p.Pro2000Ala)
c.6067C>G (p.Pro2023Ala)
c.5695C>G (p.Pro1899Ala)
c.5851C>G (p.Pro1951Ala)
c.6058C>G (p.Pro2020Ala)
c.5359C>G (p.Pro1787Ala)
c.6106C>G (p.Pro2036Ala)
 dbSNP
16g.3728935G>TCA394554197CREBBPc.6112C>A (p.Pro2038Thr)
c.5998C>A (p.Pro2000Thr)
c.6067C>A (p.Pro2023Thr)
c.5695C>A (p.Pro1899Thr)
c.5851C>A (p.Pro1951Thr)
c.6058C>A (p.Pro2020Thr)
c.5359C>A (p.Pro1787Thr)
c.6106C>A (p.Pro2036Thr)
16g.3728936C>ACA394554198CREBBPc.6111G>T (p.Arg2037Ser)
c.5997G>T (p.Arg1999Ser)
c.6066G>T (p.Arg2022Ser)
c.5694G>T (p.Arg1898Ser)
c.5850G>T (p.Arg1950Ser)
c.6057G>T (p.Arg2019Ser)
c.5358G>T (p.Arg1786Ser)
c.6105G>T (p.Arg2035Ser)
 dbSNP gnomAD v4
16g.3728936C=CA2202916124CREBBPc.6111G= (p.Arg2037=)
c.5997G= (p.Arg1999=)
c.6066G= (p.Arg2022=)
c.5694G= (p.Arg1898=)
c.5850G= (p.Arg1950=)
c.6057G= (p.Arg2019=)
c.5358G= (p.Arg1786=)
c.6105G= (p.Arg2035=)
16g.3728936C>GCA394554199CREBBPc.6111G>C (p.Arg2037Ser)
c.5997G>C (p.Arg1999Ser)
c.6066G>C (p.Arg2022Ser)
c.5694G>C (p.Arg1898Ser)
c.5850G>C (p.Arg1950Ser)
c.6057G>C (p.Arg2019Ser)
c.5358G>C (p.Arg1786Ser)
c.6105G>C (p.Arg2035Ser)
 ClinVar dbSNP gnomAD v4
16g.3728936C>TCA493393838CREBBPc.6111G>A (p.Arg2037=)
c.5997G>A (p.Arg1999=)
c.6066G>A (p.Arg2022=)
c.5694G>A (p.Arg1898=)
c.5850G>A (p.Arg1950=)
c.6057G>A (p.Arg2019=)
c.5358G>A (p.Arg1786=)
c.6105G>A (p.Arg2035=)
 dbSNP gnomAD v4

Number of alleles fetched