Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.3729194G>ACA493393897CREBBPc.5853C>T (p.Pro1951=)
c.5739C>T (p.Pro1913=)
c.5808C>T (p.Pro1936=)
c.5436C>T (p.Pro1812=)
c.5592C>T (p.Pro1864=)
c.5799C>T (p.Pro1933=)
c.5100C>T (p.Pro1700=)
c.5847C>T (p.Pro1949=)
 dbSNP gnomAD v4
16g.3729194G>CCA493393898CREBBPc.5853C>G (p.Pro1951=)
c.5739C>G (p.Pro1913=)
c.5808C>G (p.Pro1936=)
c.5436C>G (p.Pro1812=)
c.5592C>G (p.Pro1864=)
c.5799C>G (p.Pro1933=)
c.5100C>G (p.Pro1700=)
c.5847C>G (p.Pro1949=)
 gnomAD v4
16g.3729194G>TCA493393896CREBBPc.5853C>A (p.Pro1951=)
c.5739C>A (p.Pro1913=)
c.5808C>A (p.Pro1936=)
c.5436C>A (p.Pro1812=)
c.5592C>A (p.Pro1864=)
c.5799C>A (p.Pro1933=)
c.5100C>A (p.Pro1700=)
c.5847C>A (p.Pro1949=)
16g.3729195G>ACA394555220CREBBPc.5852C>T (p.Pro1951Leu)
c.5738C>T (p.Pro1913Leu)
c.5807C>T (p.Pro1936Leu)
c.5435C>T (p.Pro1812Leu)
c.5591C>T (p.Pro1864Leu)
c.5798C>T (p.Pro1933Leu)
c.5099C>T (p.Pro1700Leu)
c.5846C>T (p.Pro1949Leu)
 dbSNP
16g.3729195G>CCA394555222CREBBPc.5852C>G (p.Pro1951Arg)
c.5738C>G (p.Pro1913Arg)
c.5807C>G (p.Pro1936Arg)
c.5435C>G (p.Pro1812Arg)
c.5591C>G (p.Pro1864Arg)
c.5798C>G (p.Pro1933Arg)
c.5099C>G (p.Pro1700Arg)
c.5846C>G (p.Pro1949Arg)
 dbSNP
16g.3729195G>TCA394555224CREBBPc.5852C>A (p.Pro1951His)
c.5738C>A (p.Pro1913His)
c.5807C>A (p.Pro1936His)
c.5435C>A (p.Pro1812His)
c.5591C>A (p.Pro1864His)
c.5798C>A (p.Pro1933His)
c.5099C>A (p.Pro1700His)
c.5846C>A (p.Pro1949His)
16g.3729196G>ACA394555226CREBBPc.5851C>T (p.Pro1951Ser)
c.5737C>T (p.Pro1913Ser)
c.5806C>T (p.Pro1936Ser)
c.5434C>T (p.Pro1812Ser)
c.5590C>T (p.Pro1864Ser)
c.5797C>T (p.Pro1933Ser)
c.5098C>T (p.Pro1700Ser)
c.5845C>T (p.Pro1949Ser)
 dbSNP gnomAD v4
16g.3729196G>CCA394555228CREBBPc.5851C>G (p.Pro1951Ala)
c.5737C>G (p.Pro1913Ala)
c.5806C>G (p.Pro1936Ala)
c.5434C>G (p.Pro1812Ala)
c.5590C>G (p.Pro1864Ala)
c.5797C>G (p.Pro1933Ala)
c.5098C>G (p.Pro1700Ala)
c.5845C>G (p.Pro1949Ala)
16g.3729196G>TCA394555230CREBBPc.5851C>A (p.Pro1951Thr)
c.5737C>A (p.Pro1913Thr)
c.5806C>A (p.Pro1936Thr)
c.5434C>A (p.Pro1812Thr)
c.5590C>A (p.Pro1864Thr)
c.5797C>A (p.Pro1933Thr)
c.5098C>A (p.Pro1700Thr)
c.5845C>A (p.Pro1949Thr)
 gnomAD v4
16g.3729197C>ACA394555233CREBBPc.5850G>T (p.Gln1950His)
c.5736G>T (p.Gln1912His)
c.5805G>T (p.Gln1935His)
c.5433G>T (p.Gln1811His)
c.5589G>T (p.Gln1863His)
c.5796G>T (p.Gln1932His)
c.5097G>T (p.Gln1699His)
c.5844G>T (p.Gln1948His)
16g.3729197C=CA2202916277CREBBPc.5850G= (p.Gln1950=)
c.5736G= (p.Gln1912=)
c.5805G= (p.Gln1935=)
c.5433G= (p.Gln1811=)
c.5589G= (p.Gln1863=)
c.5796G= (p.Gln1932=)
c.5097G= (p.Gln1699=)
c.5844G= (p.Gln1948=)
16g.3729197C>GCA394555232CREBBPc.5850G>C (p.Gln1950His)
c.5736G>C (p.Gln1912His)
c.5805G>C (p.Gln1935His)
c.5433G>C (p.Gln1811His)
c.5589G>C (p.Gln1863His)
c.5796G>C (p.Gln1932His)
c.5097G>C (p.Gln1699His)
c.5844G>C (p.Gln1948His)
 gnomAD v4
16g.3729197C>TCA493393903CREBBPc.5850G>A (p.Gln1950=)
c.5736G>A (p.Gln1912=)
c.5805G>A (p.Gln1935=)
c.5433G>A (p.Gln1811=)
c.5589G>A (p.Gln1863=)
c.5796G>A (p.Gln1932=)
c.5097G>A (p.Gln1699=)
c.5844G>A (p.Gln1948=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729197_3729198delCA2575893807CREBBPc.5849_5850del (p.Gln1950ProfsTer15)
c.5735_5736del (p.Gln1912ProfsTer15)
c.5804_5805del (p.Gln1935ProfsTer15)
c.5432_5433del (p.Gln1811ProfsTer15)
c.5588_5589del (p.Gln1863ProfsTer15)
c.5795_5796del (p.Gln1932ProfsTer15)
c.5096_5097del (p.Gln1699ProfsTer15)
c.5843_5844del (p.Gln1948ProfsTer15)
16g.3729198delCA2575893808CREBBPc.5849del (p.Gln1950ArgfsTer26)
c.5735del (p.Gln1912ArgfsTer26)
c.5804del (p.Gln1935ArgfsTer26)
c.5432del (p.Gln1811ArgfsTer26)
c.5588del (p.Gln1863ArgfsTer26)
c.5795del (p.Gln1932ArgfsTer26)
c.5096del (p.Gln1699ArgfsTer26)
c.5843del (p.Gln1948ArgfsTer26)
16g.3729198T>ACA394555236CREBBPc.5849A>T (p.Gln1950Leu)
c.5735A>T (p.Gln1912Leu)
c.5804A>T (p.Gln1935Leu)
c.5432A>T (p.Gln1811Leu)
c.5588A>T (p.Gln1863Leu)
c.5795A>T (p.Gln1932Leu)
c.5096A>T (p.Gln1699Leu)
c.5843A>T (p.Gln1948Leu)
16g.3729198T>CCA394555237CREBBPc.5849A>G (p.Gln1950Arg)
c.5735A>G (p.Gln1912Arg)
c.5804A>G (p.Gln1935Arg)
c.5432A>G (p.Gln1811Arg)
c.5588A>G (p.Gln1863Arg)
c.5795A>G (p.Gln1932Arg)
c.5096A>G (p.Gln1699Arg)
c.5843A>G (p.Gln1948Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.3729198T>GCA394555239CREBBPc.5849A>C (p.Gln1950Pro)
c.5735A>C (p.Gln1912Pro)
c.5804A>C (p.Gln1935Pro)
c.5432A>C (p.Gln1811Pro)
c.5588A>C (p.Gln1863Pro)
c.5795A>C (p.Gln1932Pro)
c.5096A>C (p.Gln1699Pro)
c.5843A>C (p.Gln1948Pro)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729198T=CA2202916278CREBBPc.5849A= (p.Gln1950=)
c.5735A= (p.Gln1912=)
c.5804A= (p.Gln1935=)
c.5432A= (p.Gln1811=)
c.5588A= (p.Gln1863=)
c.5795A= (p.Gln1932=)
c.5096A= (p.Gln1699=)
c.5843A= (p.Gln1948=)
16g.3729198_3729213delinsTGGGCCGGGGGTGGGGCA2202916279CREBBPc.5834_5849delinsCCCCACCCCCGGCCCA (p.Pro1945=)
c.5720_5735delinsCCCCACCCCCGGCCCA (p.Pro1907=)
c.5789_5804delinsCCCCACCCCCGGCCCA (p.Pro1930=)
c.5417_5432delinsCCCCACCCCCGGCCCA (p.Pro1806=)
c.5573_5588delinsCCCCACCCCCGGCCCA (p.Pro1858=)
c.5780_5795delinsCCCCACCCCCGGCCCA (p.Pro1927=)
c.5081_5096delinsCCCCACCCCCGGCCCA (p.Pro1694=)
c.5828_5843delinsCCCCACCCCCGGCCCA (p.Pro1943=)
16g.3729198_3729199insACA645575158CREBBPc.5848_5849insT (p.Gln1950LeufsTer16)
c.5734_5735insT (p.Gln1912LeufsTer16)
c.5803_5804insT (p.Gln1935LeufsTer16)
c.5431_5432insT (p.Gln1811LeufsTer16)
c.5587_5588insT (p.Gln1863LeufsTer16)
c.5794_5795insT (p.Gln1932LeufsTer16)
c.5095_5096insT (p.Gln1699LeufsTer16)
c.5842_5843insT (p.Gln1948LeufsTer16)
 COSMIC
16g.3729199G>ACA394555241CREBBPc.5848C>T (p.Gln1950Ter)
c.5734C>T (p.Gln1912Ter)
c.5803C>T (p.Gln1935Ter)
c.5431C>T (p.Gln1811Ter)
c.5587C>T (p.Gln1863Ter)
c.5794C>T (p.Gln1932Ter)
c.5095C>T (p.Gln1699Ter)
c.5842C>T (p.Gln1948Ter)
 dbSNP
16g.3729199G>CCA394555243CREBBPc.5848C>G (p.Gln1950Glu)
c.5734C>G (p.Gln1912Glu)
c.5803C>G (p.Gln1935Glu)
c.5431C>G (p.Gln1811Glu)
c.5587C>G (p.Gln1863Glu)
c.5794C>G (p.Gln1932Glu)
c.5095C>G (p.Gln1699Glu)
c.5842C>G (p.Gln1948Glu)
 dbSNP
16g.3729199G=CA2202916280CREBBPc.5848C= (p.Gln1950=)
c.5734C= (p.Gln1912=)
c.5803C= (p.Gln1935=)
c.5431C= (p.Gln1811=)
c.5587C= (p.Gln1863=)
c.5794C= (p.Gln1932=)
c.5095C= (p.Gln1699=)
c.5842C= (p.Gln1948=)
16g.3729199G>TCA394555244CREBBPc.5848C>A (p.Gln1950Lys)
c.5734C>A (p.Gln1912Lys)
c.5803C>A (p.Gln1935Lys)
c.5431C>A (p.Gln1811Lys)
c.5587C>A (p.Gln1863Lys)
c.5794C>A (p.Gln1932Lys)
c.5095C>A (p.Gln1699Lys)
c.5842C>A (p.Gln1948Lys)
 gnomAD v4
16g.3729206_3729220delCA2202916281CREBBPc.5834_5848del (p.Pro1945_Ala1949del)
c.5720_5734del (p.Pro1907_Ala1911del)
c.5789_5803del (p.Pro1930_Ala1934del)
c.5417_5431del (p.Pro1806_Ala1810del)
c.5573_5587del (p.Pro1858_Ala1862del)
c.5780_5794del (p.Pro1927_Ala1931del)
c.5081_5095del (p.Pro1694_Ala1698del)
c.5828_5842del (p.Pro1943_Ala1947del)
 dbSNP gnomAD v4
16g.3729200G>ACA493393904CREBBPc.5847C>T (p.Ala1949=)
c.5733C>T (p.Ala1911=)
c.5802C>T (p.Ala1934=)
c.5430C>T (p.Ala1810=)
c.5586C>T (p.Ala1862=)
c.5793C>T (p.Ala1931=)
c.5094C>T (p.Ala1698=)
c.5841C>T (p.Ala1947=)
 dbSNP gnomAD v4
16g.3729200G>CCA493393905CREBBPc.5847C>G (p.Ala1949=)
c.5733C>G (p.Ala1911=)
c.5802C>G (p.Ala1934=)
c.5430C>G (p.Ala1810=)
c.5586C>G (p.Ala1862=)
c.5793C>G (p.Ala1931=)
c.5094C>G (p.Ala1698=)
c.5841C>G (p.Ala1947=)
 dbSNP
16g.3729200G=CA2202916282CREBBPc.5847C= (p.Ala1949=)
c.5733C= (p.Ala1911=)
c.5802C= (p.Ala1934=)
c.5430C= (p.Ala1810=)
c.5586C= (p.Ala1862=)
c.5793C= (p.Ala1931=)
c.5094C= (p.Ala1698=)
c.5841C= (p.Ala1947=)
16g.3729200G>TCA493393906CREBBPc.5847C>A (p.Ala1949=)
c.5733C>A (p.Ala1911=)
c.5802C>A (p.Ala1934=)
c.5430C>A (p.Ala1810=)
c.5586C>A (p.Ala1862=)
c.5793C>A (p.Ala1931=)
c.5094C>A (p.Ala1698=)
c.5841C>A (p.Ala1947=)
 dbSNP
16g.3729201G>ACA394555250CREBBPc.5846C>T (p.Ala1949Val)
c.5732C>T (p.Ala1911Val)
c.5801C>T (p.Ala1934Val)
c.5429C>T (p.Ala1810Val)
c.5585C>T (p.Ala1862Val)
c.5792C>T (p.Ala1931Val)
c.5093C>T (p.Ala1698Val)
c.5840C>T (p.Ala1947Val)
 gnomAD v4
16g.3729201G>CCA394555247CREBBPc.5846C>G (p.Ala1949Gly)
c.5732C>G (p.Ala1911Gly)
c.5801C>G (p.Ala1934Gly)
c.5429C>G (p.Ala1810Gly)
c.5585C>G (p.Ala1862Gly)
c.5792C>G (p.Ala1931Gly)
c.5093C>G (p.Ala1698Gly)
c.5840C>G (p.Ala1947Gly)
16g.3729201G=CA2202916283CREBBPc.5846C= (p.Ala1949=)
c.5732C= (p.Ala1911=)
c.5801C= (p.Ala1934=)
c.5429C= (p.Ala1810=)
c.5585C= (p.Ala1862=)
c.5792C= (p.Ala1931=)
c.5093C= (p.Ala1698=)
c.5840C= (p.Ala1947=)
16g.3729201G>TCA394555249CREBBPc.5846C>A (p.Ala1949Asp)
c.5732C>A (p.Ala1911Asp)
c.5801C>A (p.Ala1934Asp)
c.5429C>A (p.Ala1810Asp)
c.5585C>A (p.Ala1862Asp)
c.5792C>A (p.Ala1931Asp)
c.5093C>A (p.Ala1698Asp)
c.5840C>A (p.Ala1947Asp)
 gnomAD v4
16g.3729202_3729204dupCA2573054229CREBBPc.5844_5846dup (p.Ala1949_Gln1950insAla)
c.5730_5732dup (p.Ala1911_Gln1912insAla)
c.5799_5801dup (p.Ala1934_Gln1935insAla)
c.5427_5429dup (p.Ala1810_Gln1811insAla)
c.5583_5585dup (p.Ala1862_Gln1863insAla)
c.5790_5792dup (p.Ala1931_Gln1932insAla)
c.5091_5093dup (p.Ala1698_Gln1699insAla)
c.5838_5840dup (p.Ala1947_Gln1948insAla)
 ClinVar dbSNP gnomAD v4
16g.3729202C>ACA394555252CREBBPc.5845G>T (p.Ala1949Ser)
c.5731G>T (p.Ala1911Ser)
c.5800G>T (p.Ala1934Ser)
c.5428G>T (p.Ala1810Ser)
c.5584G>T (p.Ala1862Ser)
c.5791G>T (p.Ala1931Ser)
c.5092G>T (p.Ala1698Ser)
c.5839G>T (p.Ala1947Ser)
 dbSNP gnomAD v4
16g.3729202C=CA2202916285CREBBPc.5845G= (p.Ala1949=)
c.5731G= (p.Ala1911=)
c.5800G= (p.Ala1934=)
c.5428G= (p.Ala1810=)
c.5584G= (p.Ala1862=)
c.5791G= (p.Ala1931=)
c.5092G= (p.Ala1698=)
c.5839G= (p.Ala1947=)
16g.3729202C>GCA394555254CREBBPc.5845G>C (p.Ala1949Pro)
c.5731G>C (p.Ala1911Pro)
c.5800G>C (p.Ala1934Pro)
c.5428G>C (p.Ala1810Pro)
c.5584G>C (p.Ala1862Pro)
c.5791G>C (p.Ala1931Pro)
c.5092G>C (p.Ala1698Pro)
c.5839G>C (p.Ala1947Pro)
16g.3729202C>TCA394555256CREBBPc.5845G>A (p.Ala1949Thr)
c.5731G>A (p.Ala1911Thr)
c.5800G>A (p.Ala1934Thr)
c.5428G>A (p.Ala1810Thr)
c.5584G>A (p.Ala1862Thr)
c.5791G>A (p.Ala1931Thr)
c.5092G>A (p.Ala1698Thr)
c.5839G>A (p.Ala1947Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729202_3729203delCA2631403620CREBBPc.5844_5845del (p.Ala1949ProfsTer16)
c.5730_5731del (p.Ala1911ProfsTer16)
c.5799_5800del (p.Ala1934ProfsTer16)
c.5427_5428del (p.Ala1810ProfsTer16)
c.5583_5584del (p.Ala1862ProfsTer16)
c.5790_5791del (p.Ala1931ProfsTer16)
c.5091_5092del (p.Ala1698ProfsTer16)
c.5838_5839del (p.Ala1947ProfsTer16)
 gnomAD v4
16g.3729203dupCA915949066CREBBPc.5845dup (p.Ala1949GlyfsTer17)
c.5731dup (p.Ala1911GlyfsTer17)
c.5800dup (p.Ala1934GlyfsTer17)
c.5428dup (p.Ala1810GlyfsTer17)
c.5584dup (p.Ala1862GlyfsTer17)
c.5791dup (p.Ala1931GlyfsTer17)
c.5092dup (p.Ala1698GlyfsTer17)
c.5839dup (p.Ala1947GlyfsTer17)
 ClinVar dbSNP
16g.3729202_3729213delinsCCGGGGGTGGGGCA2202916284CREBBPc.5834_5845delinsCCCCACCCCCGG (p.Pro1945=)
c.5720_5731delinsCCCCACCCCCGG (p.Pro1907=)
c.5789_5800delinsCCCCACCCCCGG (p.Pro1930=)
c.5417_5428delinsCCCCACCCCCGG (p.Pro1806=)
c.5573_5584delinsCCCCACCCCCGG (p.Pro1858=)
c.5780_5791delinsCCCCACCCCCGG (p.Pro1927=)
c.5081_5092delinsCCCCACCCCCGG (p.Pro1694=)
c.5828_5839delinsCCCCACCCCCGG (p.Pro1943=)
16g.3729203C>ACA493393911CREBBPc.5844G>T (p.Pro1948=)
c.5730G>T (p.Pro1910=)
c.5799G>T (p.Pro1933=)
c.5427G>T (p.Pro1809=)
c.5583G>T (p.Pro1861=)
c.5790G>T (p.Pro1930=)
c.5091G>T (p.Pro1697=)
c.5838G>T (p.Pro1946=)
 dbSNP gnomAD v4
16g.3729203C=CA2202916286CREBBPc.5844G= (p.Pro1948=)
c.5730G= (p.Pro1910=)
c.5799G= (p.Pro1933=)
c.5427G= (p.Pro1809=)
c.5583G= (p.Pro1861=)
c.5790G= (p.Pro1930=)
c.5091G= (p.Pro1697=)
c.5838G= (p.Pro1946=)
16g.3729203C>GCA493393912CREBBPc.5844G>C (p.Pro1948=)
c.5730G>C (p.Pro1910=)
c.5799G>C (p.Pro1933=)
c.5427G>C (p.Pro1809=)
c.5583G>C (p.Pro1861=)
c.5790G>C (p.Pro1930=)
c.5091G>C (p.Pro1697=)
c.5838G>C (p.Pro1946=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729203C>TCA7869237CREBBPc.5844G>A (p.Pro1948=)
c.5730G>A (p.Pro1910=)
c.5799G>A (p.Pro1933=)
c.5427G>A (p.Pro1809=)
c.5583G>A (p.Pro1861=)
c.5790G>A (p.Pro1930=)
c.5091G>A (p.Pro1697=)
c.5838G>A (p.Pro1946=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729203_3729213delCA271431CREBBPc.5834_5844del (p.Pro1945ArgfsTer17)
c.5720_5730del (p.Pro1907ArgfsTer17)
c.5789_5799del (p.Pro1930ArgfsTer17)
c.5417_5427del (p.Pro1806ArgfsTer17)
c.5573_5583del (p.Pro1858ArgfsTer17)
c.5780_5790del (p.Pro1927ArgfsTer17)
c.5081_5091del (p.Pro1694ArgfsTer17)
c.5828_5838del (p.Pro1943ArgfsTer17)
 ClinVar dbSNP
16g.3729204G>ACA243767CREBBPc.5843C>T (p.Pro1948Leu)
c.5729C>T (p.Pro1910Leu)
c.5798C>T (p.Pro1933Leu)
c.5426C>T (p.Pro1809Leu)
c.5582C>T (p.Pro1861Leu)
c.5789C>T (p.Pro1930Leu)
c.5090C>T (p.Pro1697Leu)
c.5837C>T (p.Pro1946Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729204G>CCA394555263CREBBPc.5843C>G (p.Pro1948Arg)
c.5729C>G (p.Pro1910Arg)
c.5798C>G (p.Pro1933Arg)
c.5426C>G (p.Pro1809Arg)
c.5582C>G (p.Pro1861Arg)
c.5789C>G (p.Pro1930Arg)
c.5090C>G (p.Pro1697Arg)
c.5837C>G (p.Pro1946Arg)
 dbSNP gnomAD v4
16g.3729204G=CA2202916287CREBBPc.5843C= (p.Pro1948=)
c.5729C= (p.Pro1910=)
c.5798C= (p.Pro1933=)
c.5426C= (p.Pro1809=)
c.5582C= (p.Pro1861=)
c.5789C= (p.Pro1930=)
c.5090C= (p.Pro1697=)
c.5837C= (p.Pro1946=)
16g.3729204G>TCA394555262CREBBPc.5843C>A (p.Pro1948Gln)
c.5729C>A (p.Pro1910Gln)
c.5798C>A (p.Pro1933Gln)
c.5426C>A (p.Pro1809Gln)
c.5582C>A (p.Pro1861Gln)
c.5789C>A (p.Pro1930Gln)
c.5090C>A (p.Pro1697Gln)
c.5837C>A (p.Pro1946Gln)
 gnomAD v4
16g.3729208dupCA2575893809CREBBPc.5843dup (p.Ala1949GlyfsTer17)
c.5729dup (p.Ala1911GlyfsTer17)
c.5798dup (p.Ala1934GlyfsTer17)
c.5426dup (p.Ala1810GlyfsTer17)
c.5582dup (p.Ala1862GlyfsTer17)
c.5789dup (p.Ala1931GlyfsTer17)
c.5090dup (p.Ala1698GlyfsTer17)
c.5837dup (p.Ala1947GlyfsTer17)
 gnomAD v4
16g.3729208delCA2631403621CREBBPc.5843del (p.Pro1948ArgfsTer28)
c.5729del (p.Pro1910ArgfsTer28)
c.5798del (p.Pro1933ArgfsTer28)
c.5426del (p.Pro1809ArgfsTer28)
c.5582del (p.Pro1861ArgfsTer28)
c.5789del (p.Pro1930ArgfsTer28)
c.5090del (p.Pro1697ArgfsTer28)
c.5837del (p.Pro1946ArgfsTer28)
 gnomAD v4
16g.3729209_3729216delCA2631403622CREBBPc.5836_5843del (p.Pro1946GlyfsTer17)
c.5722_5729del (p.Pro1908GlyfsTer17)
c.5791_5798del (p.Pro1931GlyfsTer17)
c.5419_5426del (p.Pro1807GlyfsTer17)
c.5575_5582del (p.Pro1859GlyfsTer17)
c.5782_5789del (p.Pro1928GlyfsTer17)
c.5083_5090del (p.Pro1695GlyfsTer17)
c.5830_5837del (p.Pro1944GlyfsTer17)
 gnomAD v4
16g.3729205G>ACA394555266CREBBPc.5842C>T (p.Pro1948Ser)
c.5728C>T (p.Pro1910Ser)
c.5797C>T (p.Pro1933Ser)
c.5425C>T (p.Pro1809Ser)
c.5581C>T (p.Pro1861Ser)
c.5788C>T (p.Pro1930Ser)
c.5089C>T (p.Pro1697Ser)
c.5836C>T (p.Pro1946Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3729205G>CCA394555268CREBBPc.5842C>G (p.Pro1948Ala)
c.5728C>G (p.Pro1910Ala)
c.5797C>G (p.Pro1933Ala)
c.5425C>G (p.Pro1809Ala)
c.5581C>G (p.Pro1861Ala)
c.5788C>G (p.Pro1930Ala)
c.5089C>G (p.Pro1697Ala)
c.5836C>G (p.Pro1946Ala)
 dbSNP
16g.3729205G=CA2202916288CREBBPc.5842C= (p.Pro1948=)
c.5728C= (p.Pro1910=)
c.5797C= (p.Pro1933=)
c.5425C= (p.Pro1809=)
c.5581C= (p.Pro1861=)
c.5788C= (p.Pro1930=)
c.5089C= (p.Pro1697=)
c.5836C= (p.Pro1946=)
16g.3729205G>TCA394555270CREBBPc.5842C>A (p.Pro1948Thr)
c.5728C>A (p.Pro1910Thr)
c.5797C>A (p.Pro1933Thr)
c.5425C>A (p.Pro1809Thr)
c.5581C>A (p.Pro1861Thr)
c.5788C>A (p.Pro1930Thr)
c.5089C>A (p.Pro1697Thr)
c.5836C>A (p.Pro1946Thr)
 ClinVar dbSNP gnomAD v4
16g.3729206G>ACA493393913CREBBPc.5841C>T (p.Pro1947=)
c.5727C>T (p.Pro1909=)
c.5796C>T (p.Pro1932=)
c.5424C>T (p.Pro1808=)
c.5580C>T (p.Pro1860=)
c.5787C>T (p.Pro1929=)
c.5088C>T (p.Pro1696=)
c.5835C>T (p.Pro1945=)
 ClinVar dbSNP
16g.3729206G>CCA7869238CREBBPc.5841C>G (p.Pro1947=)
c.5727C>G (p.Pro1909=)
c.5796C>G (p.Pro1932=)
c.5424C>G (p.Pro1808=)
c.5580C>G (p.Pro1860=)
c.5787C>G (p.Pro1929=)
c.5088C>G (p.Pro1696=)
c.5835C>G (p.Pro1945=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729206G=CA2202916289CREBBPc.5841C= (p.Pro1947=)
c.5727C= (p.Pro1909=)
c.5796C= (p.Pro1932=)
c.5424C= (p.Pro1808=)
c.5580C= (p.Pro1860=)
c.5787C= (p.Pro1929=)
c.5088C= (p.Pro1696=)
c.5835C= (p.Pro1945=)
16g.3729206G>TCA493393914CREBBPc.5841C>A (p.Pro1947=)
c.5727C>A (p.Pro1909=)
c.5796C>A (p.Pro1932=)
c.5424C>A (p.Pro1808=)
c.5580C>A (p.Pro1860=)
c.5787C>A (p.Pro1929=)
c.5088C>A (p.Pro1696=)
c.5835C>A (p.Pro1945=)
 dbSNP gnomAD v4
16g.3729207G>ACA394555273CREBBPc.5840C>T (p.Pro1947Leu)
c.5726C>T (p.Pro1909Leu)
c.5795C>T (p.Pro1932Leu)
c.5423C>T (p.Pro1808Leu)
c.5579C>T (p.Pro1860Leu)
c.5786C>T (p.Pro1929Leu)
c.5087C>T (p.Pro1696Leu)
c.5834C>T (p.Pro1945Leu)
 dbSNP gnomAD v4
16g.3729207G>CCA394555275CREBBPc.5840C>G (p.Pro1947Arg)
c.5726C>G (p.Pro1909Arg)
c.5795C>G (p.Pro1932Arg)
c.5423C>G (p.Pro1808Arg)
c.5579C>G (p.Pro1860Arg)
c.5786C>G (p.Pro1929Arg)
c.5087C>G (p.Pro1696Arg)
c.5834C>G (p.Pro1945Arg)
 dbSNP
16g.3729207G>TCA394555277CREBBPc.5840C>A (p.Pro1947His)
c.5726C>A (p.Pro1909His)
c.5795C>A (p.Pro1932His)
c.5423C>A (p.Pro1808His)
c.5579C>A (p.Pro1860His)
c.5786C>A (p.Pro1929His)
c.5087C>A (p.Pro1696His)
c.5834C>A (p.Pro1945His)
 dbSNP gnomAD v4
16g.3729208G>ACA7869239CREBBPc.5839C>T (p.Pro1947Ser)
c.5725C>T (p.Pro1909Ser)
c.5794C>T (p.Pro1932Ser)
c.5422C>T (p.Pro1808Ser)
c.5578C>T (p.Pro1860Ser)
c.5785C>T (p.Pro1929Ser)
c.5086C>T (p.Pro1696Ser)
c.5833C>T (p.Pro1945Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729208G>CCA394555280CREBBPc.5839C>G (p.Pro1947Ala)
c.5725C>G (p.Pro1909Ala)
c.5794C>G (p.Pro1932Ala)
c.5422C>G (p.Pro1808Ala)
c.5578C>G (p.Pro1860Ala)
c.5785C>G (p.Pro1929Ala)
c.5086C>G (p.Pro1696Ala)
c.5833C>G (p.Pro1945Ala)
 gnomAD v4
16g.3729208G=CA2202916290CREBBPc.5839C= (p.Pro1947=)
c.5725C= (p.Pro1909=)
c.5794C= (p.Pro1932=)
c.5422C= (p.Pro1808=)
c.5578C= (p.Pro1860=)
c.5785C= (p.Pro1929=)
c.5086C= (p.Pro1696=)
c.5833C= (p.Pro1945=)
16g.3729208G>TCA394555282CREBBPc.5839C>A (p.Pro1947Thr)
c.5725C>A (p.Pro1909Thr)
c.5794C>A (p.Pro1932Thr)
c.5422C>A (p.Pro1808Thr)
c.5578C>A (p.Pro1860Thr)
c.5785C>A (p.Pro1929Thr)
c.5086C>A (p.Pro1696Thr)
c.5833C>A (p.Pro1945Thr)
 ClinVar gnomAD v4
16g.3729212_3729246delCA2631403623CREBBPc.5805_5839del (p.Gly1936ProfsTer18)
c.5691_5725del (p.Gly1898ProfsTer18)
c.5760_5794del (p.Gly1921ProfsTer18)
c.5388_5422del (p.Gly1797ProfsTer18)
c.5544_5578del (p.Gly1849ProfsTer18)
c.5751_5785del (p.Gly1918ProfsTer18)
c.5052_5086del (p.Gly1685ProfsTer18)
c.5799_5833del (p.Gly1934ProfsTer18)
 gnomAD v4
16g.3729209delCA2631403624CREBBPc.5838del (p.Pro1948ArgfsTer28)
c.5724del (p.Pro1910ArgfsTer28)
c.5793del (p.Pro1933ArgfsTer28)
c.5421del (p.Pro1809ArgfsTer28)
c.5577del (p.Pro1861ArgfsTer28)
c.5784del (p.Pro1930ArgfsTer28)
c.5085del (p.Pro1697ArgfsTer28)
c.5832del (p.Pro1946ArgfsTer28)
 gnomAD v4
16g.3729209T>ACA493393915CREBBPc.5838A>T (p.Pro1946=)
c.5724A>T (p.Pro1908=)
c.5793A>T (p.Pro1931=)
c.5421A>T (p.Pro1807=)
c.5577A>T (p.Pro1859=)
c.5784A>T (p.Pro1928=)
c.5085A>T (p.Pro1695=)
c.5832A>T (p.Pro1944=)
 gnomAD v4
16g.3729209T>CCA493393916CREBBPc.5838A>G (p.Pro1946=)
c.5724A>G (p.Pro1908=)
c.5793A>G (p.Pro1931=)
c.5421A>G (p.Pro1807=)
c.5577A>G (p.Pro1859=)
c.5784A>G (p.Pro1928=)
c.5085A>G (p.Pro1695=)
c.5832A>G (p.Pro1944=)
 dbSNP gnomAD v3 gnomAD v4
16g.3729209T>GCA493393917CREBBPc.5838A>C (p.Pro1946=)
c.5724A>C (p.Pro1908=)
c.5793A>C (p.Pro1931=)
c.5421A>C (p.Pro1807=)
c.5577A>C (p.Pro1859=)
c.5784A>C (p.Pro1928=)
c.5085A>C (p.Pro1695=)
c.5832A>C (p.Pro1944=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729209T=CA2202916292CREBBPc.5838A= (p.Pro1946=)
c.5724A= (p.Pro1908=)
c.5793A= (p.Pro1931=)
c.5421A= (p.Pro1807=)
c.5577A= (p.Pro1859=)
c.5784A= (p.Pro1928=)
c.5085A= (p.Pro1695=)
c.5832A= (p.Pro1944=)
16g.3729209_3729210delinsTGCA2202916291CREBBPc.5837_5838delinsCA (p.Pro1946=)
c.5723_5724delinsCA (p.Pro1908=)
c.5792_5793delinsCA (p.Pro1931=)
c.5420_5421delinsCA (p.Pro1807=)
c.5576_5577delinsCA (p.Pro1859=)
c.5783_5784delinsCA (p.Pro1928=)
c.5084_5085delinsCA (p.Pro1695=)
c.5831_5832delinsCA (p.Pro1944=)
16g.3729210G>ACA394555294CREBBPc.5837C>T (p.Pro1946Leu)
c.5723C>T (p.Pro1908Leu)
c.5792C>T (p.Pro1931Leu)
c.5420C>T (p.Pro1807Leu)
c.5576C>T (p.Pro1859Leu)
c.5783C>T (p.Pro1928Leu)
c.5084C>T (p.Pro1695Leu)
c.5831C>T (p.Pro1944Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729210G>CCA394555296CREBBPc.5837C>G (p.Pro1946Arg)
c.5723C>G (p.Pro1908Arg)
c.5792C>G (p.Pro1931Arg)
c.5420C>G (p.Pro1807Arg)
c.5576C>G (p.Pro1859Arg)
c.5783C>G (p.Pro1928Arg)
c.5084C>G (p.Pro1695Arg)
c.5831C>G (p.Pro1944Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729210G=CA2202916293CREBBPc.5837C= (p.Pro1946=)
c.5723C= (p.Pro1908=)
c.5792C= (p.Pro1931=)
c.5420C= (p.Pro1807=)
c.5576C= (p.Pro1859=)
c.5783C= (p.Pro1928=)
c.5084C= (p.Pro1695=)
c.5831C= (p.Pro1944=)
16g.3729210G>TCA7869240CREBBPc.5837C>A (p.Pro1946Gln)
c.5723C>A (p.Pro1908Gln)
c.5792C>A (p.Pro1931Gln)
c.5420C>A (p.Pro1807Gln)
c.5576C>A (p.Pro1859Gln)
c.5783C>A (p.Pro1928Gln)
c.5084C>A (p.Pro1695Gln)
c.5831C>A (p.Pro1944Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729216dupCA277424CREBBPc.5837dup (p.Pro1947ThrfsTer19)
c.5723dup (p.Pro1909ThrfsTer19)
c.5792dup (p.Pro1932ThrfsTer19)
c.5420dup (p.Pro1808ThrfsTer19)
c.5576dup (p.Pro1860ThrfsTer19)
c.5783dup (p.Pro1929ThrfsTer19)
c.5084dup (p.Pro1696ThrfsTer19)
c.5831dup (p.Pro1945ThrfsTer19)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729215_3729216dupCA2805633015CREBBPc.5836_5837dup (p.Pro1947HisfsTer30)
c.5722_5723dup (p.Pro1909HisfsTer30)
c.5791_5792dup (p.Pro1932HisfsTer30)
c.5419_5420dup (p.Pro1808HisfsTer30)
c.5575_5576dup (p.Pro1860HisfsTer30)
c.5782_5783dup (p.Pro1929HisfsTer30)
c.5083_5084dup (p.Pro1696HisfsTer30)
c.5830_5831dup (p.Pro1945HisfsTer30)
16g.3729216delCA271432CREBBPc.5837del (p.Pro1946HisfsTer30)
c.5723del (p.Pro1908HisfsTer30)
c.5792del (p.Pro1931HisfsTer30)
c.5420del (p.Pro1807HisfsTer30)
c.5576del (p.Pro1859HisfsTer30)
c.5783del (p.Pro1928HisfsTer30)
c.5084del (p.Pro1695HisfsTer30)
c.5831del (p.Pro1944HisfsTer30)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.3729215_3729216delCA2825002418CREBBPc.5836_5837del (p.Pro1946ThrfsTer19)
c.5722_5723del (p.Pro1908ThrfsTer19)
c.5791_5792del (p.Pro1931ThrfsTer19)
c.5419_5420del (p.Pro1807ThrfsTer19)
c.5575_5576del (p.Pro1859ThrfsTer19)
c.5782_5783del (p.Pro1928ThrfsTer19)
c.5083_5084del (p.Pro1695ThrfsTer19)
c.5830_5831del (p.Pro1944ThrfsTer19)
 ClinVar
16g.3729212_3729220delCA2580618128CREBBPc.5829_5837del (p.Ala1944_Pro1946del)
c.5715_5723del (p.Ala1906_Pro1908del)
c.5784_5792del (p.Ala1929_Pro1931del)
c.5412_5420del (p.Ala1805_Pro1807del)
c.5568_5576del (p.Ala1857_Pro1859del)
c.5775_5783del (p.Ala1926_Pro1928del)
c.5076_5084del (p.Ala1693_Pro1695del)
c.5823_5831del (p.Ala1942_Pro1944del)
 ClinVar
16g.3729210_3729211insACA2731851111CREBBPc.5836_5837insT (p.Pro1946LeufsTer20)
c.5722_5723insT (p.Pro1908LeufsTer20)
c.5791_5792insT (p.Pro1931LeufsTer20)
c.5419_5420insT (p.Pro1807LeufsTer20)
c.5575_5576insT (p.Pro1859LeufsTer20)
c.5782_5783insT (p.Pro1928LeufsTer20)
c.5083_5084insT (p.Pro1695LeufsTer20)
c.5830_5831insT (p.Pro1944LeufsTer20)
 dbSNP
16g.3729211G>ACA394555301CREBBPc.5836C>T (p.Pro1946Ser)
c.5722C>T (p.Pro1908Ser)
c.5791C>T (p.Pro1931Ser)
c.5419C>T (p.Pro1807Ser)
c.5575C>T (p.Pro1859Ser)
c.5782C>T (p.Pro1928Ser)
c.5083C>T (p.Pro1695Ser)
c.5830C>T (p.Pro1944Ser)
 dbSNP
16g.3729211G>CCA394555303CREBBPc.5836C>G (p.Pro1946Ala)
c.5722C>G (p.Pro1908Ala)
c.5791C>G (p.Pro1931Ala)
c.5419C>G (p.Pro1807Ala)
c.5575C>G (p.Pro1859Ala)
c.5782C>G (p.Pro1928Ala)
c.5083C>G (p.Pro1695Ala)
c.5830C>G (p.Pro1944Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729211G=CA2202916294CREBBPc.5836C= (p.Pro1946=)
c.5722C= (p.Pro1908=)
c.5791C= (p.Pro1931=)
c.5419C= (p.Pro1807=)
c.5575C= (p.Pro1859=)
c.5782C= (p.Pro1928=)
c.5083C= (p.Pro1695=)
c.5830C= (p.Pro1944=)
16g.3729211G>TCA394555299CREBBPc.5836C>A (p.Pro1946Thr)
c.5722C>A (p.Pro1908Thr)
c.5791C>A (p.Pro1931Thr)
c.5419C>A (p.Pro1807Thr)
c.5575C>A (p.Pro1859Thr)
c.5782C>A (p.Pro1928Thr)
c.5083C>A (p.Pro1695Thr)
c.5830C>A (p.Pro1944Thr)
 dbSNP gnomAD v4
16g.3729212G>ACA493393922CREBBPc.5835C>T (p.Pro1945=)
c.5721C>T (p.Pro1907=)
c.5790C>T (p.Pro1930=)
c.5418C>T (p.Pro1806=)
c.5574C>T (p.Pro1858=)
c.5781C>T (p.Pro1927=)
c.5082C>T (p.Pro1694=)
c.5829C>T (p.Pro1943=)
 dbSNP gnomAD v4
16g.3729212G>CCA493393923CREBBPc.5835C>G (p.Pro1945=)
c.5721C>G (p.Pro1907=)
c.5790C>G (p.Pro1930=)
c.5418C>G (p.Pro1806=)
c.5574C>G (p.Pro1858=)
c.5781C>G (p.Pro1927=)
c.5082C>G (p.Pro1694=)
c.5829C>G (p.Pro1943=)
 gnomAD v4
16g.3729212G=CA2202916295CREBBPc.5835C= (p.Pro1945=)
c.5721C= (p.Pro1907=)
c.5790C= (p.Pro1930=)
c.5418C= (p.Pro1806=)
c.5574C= (p.Pro1858=)
c.5781C= (p.Pro1927=)
c.5082C= (p.Pro1694=)
c.5829C= (p.Pro1943=)
16g.3729212G>TCA493393925CREBBPc.5835C>A (p.Pro1945=)
c.5721C>A (p.Pro1907=)
c.5790C>A (p.Pro1930=)
c.5418C>A (p.Pro1806=)
c.5574C>A (p.Pro1858=)
c.5781C>A (p.Pro1927=)
c.5082C>A (p.Pro1694=)
c.5829C>A (p.Pro1943=)
 dbSNP gnomAD v4
16g.3729213G>ACA394555304CREBBPc.5834C>T (p.Pro1945Leu)
c.5720C>T (p.Pro1907Leu)
c.5789C>T (p.Pro1930Leu)
c.5417C>T (p.Pro1806Leu)
c.5573C>T (p.Pro1858Leu)
c.5780C>T (p.Pro1927Leu)
c.5081C>T (p.Pro1694Leu)
c.5828C>T (p.Pro1943Leu)
 dbSNP gnomAD v4
16g.3729213G>CCA394555305CREBBPc.5834C>G (p.Pro1945Arg)
c.5720C>G (p.Pro1907Arg)
c.5789C>G (p.Pro1930Arg)
c.5417C>G (p.Pro1806Arg)
c.5573C>G (p.Pro1858Arg)
c.5780C>G (p.Pro1927Arg)
c.5081C>G (p.Pro1694Arg)
c.5828C>G (p.Pro1943Arg)
 dbSNP
16g.3729213G>TCA394555307CREBBPc.5834C>A (p.Pro1945His)
c.5720C>A (p.Pro1907His)
c.5789C>A (p.Pro1930His)
c.5417C>A (p.Pro1806His)
c.5573C>A (p.Pro1858His)
c.5780C>A (p.Pro1927His)
c.5081C>A (p.Pro1694His)
c.5828C>A (p.Pro1943His)
 gnomAD v4
16g.3729214G>ACA394555309CREBBPc.5833C>T (p.Pro1945Ser)
c.5719C>T (p.Pro1907Ser)
c.5788C>T (p.Pro1930Ser)
c.5416C>T (p.Pro1806Ser)
c.5572C>T (p.Pro1858Ser)
c.5779C>T (p.Pro1927Ser)
c.5080C>T (p.Pro1694Ser)
c.5827C>T (p.Pro1943Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3729214G>CCA394555311CREBBPc.5833C>G (p.Pro1945Ala)
c.5719C>G (p.Pro1907Ala)
c.5788C>G (p.Pro1930Ala)
c.5416C>G (p.Pro1806Ala)
c.5572C>G (p.Pro1858Ala)
c.5779C>G (p.Pro1927Ala)
c.5080C>G (p.Pro1694Ala)
c.5827C>G (p.Pro1943Ala)
 dbSNP
16g.3729214G=CA2202916296CREBBPc.5833C= (p.Pro1945=)
c.5719C= (p.Pro1907=)
c.5788C= (p.Pro1930=)
c.5416C= (p.Pro1806=)
c.5572C= (p.Pro1858=)
c.5779C= (p.Pro1927=)
c.5080C= (p.Pro1694=)
c.5827C= (p.Pro1943=)
16g.3729214G>TCA394555313CREBBPc.5833C>A (p.Pro1945Thr)
c.5719C>A (p.Pro1907Thr)
c.5788C>A (p.Pro1930Thr)
c.5416C>A (p.Pro1806Thr)
c.5572C>A (p.Pro1858Thr)
c.5779C>A (p.Pro1927Thr)
c.5080C>A (p.Pro1694Thr)
c.5827C>A (p.Pro1943Thr)
 gnomAD v4
16g.3729215G>ACA276971993CREBBPc.5832C>T (p.Ala1944=)
c.5718C>T (p.Ala1906=)
c.5787C>T (p.Ala1929=)
c.5415C>T (p.Ala1805=)
c.5571C>T (p.Ala1857=)
c.5778C>T (p.Ala1926=)
c.5079C>T (p.Ala1693=)
c.5826C>T (p.Ala1942=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729215G>CCA493393931CREBBPc.5832C>G (p.Ala1944=)
c.5718C>G (p.Ala1906=)
c.5787C>G (p.Ala1929=)
c.5415C>G (p.Ala1805=)
c.5571C>G (p.Ala1857=)
c.5778C>G (p.Ala1926=)
c.5079C>G (p.Ala1693=)
c.5826C>G (p.Ala1942=)
 dbSNP gnomAD v4
16g.3729215G=CA2202916297CREBBPc.5832C= (p.Ala1944=)
c.5718C= (p.Ala1906=)
c.5787C= (p.Ala1929=)
c.5415C= (p.Ala1805=)
c.5571C= (p.Ala1857=)
c.5778C= (p.Ala1926=)
c.5079C= (p.Ala1693=)
c.5826C= (p.Ala1942=)
16g.3729215G>TCA493393932CREBBPc.5832C>A (p.Ala1944=)
c.5718C>A (p.Ala1906=)
c.5787C>A (p.Ala1929=)
c.5415C>A (p.Ala1805=)
c.5571C>A (p.Ala1857=)
c.5778C>A (p.Ala1926=)
c.5079C>A (p.Ala1693=)
c.5826C>A (p.Ala1942=)
 gnomAD v4
16g.3729216G>ACA7869241CREBBPc.5831C>T (p.Ala1944Val)
c.5717C>T (p.Ala1906Val)
c.5786C>T (p.Ala1929Val)
c.5414C>T (p.Ala1805Val)
c.5570C>T (p.Ala1857Val)
c.5777C>T (p.Ala1926Val)
c.5078C>T (p.Ala1693Val)
c.5825C>T (p.Ala1942Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729216G>CCA394555317CREBBPc.5831C>G (p.Ala1944Gly)
c.5717C>G (p.Ala1906Gly)
c.5786C>G (p.Ala1929Gly)
c.5414C>G (p.Ala1805Gly)
c.5570C>G (p.Ala1857Gly)
c.5777C>G (p.Ala1926Gly)
c.5078C>G (p.Ala1693Gly)
c.5825C>G (p.Ala1942Gly)
 dbSNP gnomAD v4
16g.3729216G=CA2202916298CREBBPc.5831C= (p.Ala1944=)
c.5717C= (p.Ala1906=)
c.5786C= (p.Ala1929=)
c.5414C= (p.Ala1805=)
c.5570C= (p.Ala1857=)
c.5777C= (p.Ala1926=)
c.5078C= (p.Ala1693=)
c.5825C= (p.Ala1942=)
16g.3729216G>TCA394555319CREBBPc.5831C>A (p.Ala1944Asp)
c.5717C>A (p.Ala1906Asp)
c.5786C>A (p.Ala1929Asp)
c.5414C>A (p.Ala1805Asp)
c.5570C>A (p.Ala1857Asp)
c.5777C>A (p.Ala1926Asp)
c.5078C>A (p.Ala1693Asp)
c.5825C>A (p.Ala1942Asp)
 ClinVar dbSNP gnomAD v4
16g.3729216_3729217insGCCA2575893811CREBBPc.5830_5831insGC (p.Ala1944GlyfsTer?)
c.5716_5717insGC (p.Ala1906GlyfsTer?)
c.5785_5786insGC (p.Ala1929GlyfsTer?)
c.5413_5414insGC (p.Ala1805GlyfsTer?)
c.5569_5570insGC (p.Ala1857GlyfsTer?)
c.5776_5777insGC (p.Ala1926GlyfsTer?)
c.5077_5078insGC (p.Ala1693GlyfsTer?)
c.5824_5825insGC (p.Ala1942GlyfsTer?)
16g.3729216_3729217insGGCCA2575893810CREBBPc.5830_5831insGCC (p.Ala1944delinsGlyPro)
c.5716_5717insGCC (p.Ala1906delinsGlyPro)
c.5785_5786insGCC (p.Ala1929delinsGlyPro)
c.5413_5414insGCC (p.Ala1805delinsGlyPro)
c.5569_5570insGCC (p.Ala1857delinsGlyPro)
c.5776_5777insGCC (p.Ala1926delinsGlyPro)
c.5077_5078insGCC (p.Ala1693delinsGlyPro)
c.5824_5825insGCC (p.Ala1942delinsGlyPro)
16g.3729217C>ACA394555325CREBBPc.5830G>T (p.Ala1944Ser)
c.5716G>T (p.Ala1906Ser)
c.5785G>T (p.Ala1929Ser)
c.5413G>T (p.Ala1805Ser)
c.5569G>T (p.Ala1857Ser)
c.5776G>T (p.Ala1926Ser)
c.5077G>T (p.Ala1693Ser)
c.5824G>T (p.Ala1942Ser)
 dbSNP
16g.3729217C>GCA394555323CREBBPc.5830G>C (p.Ala1944Pro)
c.5716G>C (p.Ala1906Pro)
c.5785G>C (p.Ala1929Pro)
c.5413G>C (p.Ala1805Pro)
c.5569G>C (p.Ala1857Pro)
c.5776G>C (p.Ala1926Pro)
c.5077G>C (p.Ala1693Pro)
c.5824G>C (p.Ala1942Pro)
 dbSNP gnomAD v4
16g.3729217C>TCA394555321CREBBPc.5830G>A (p.Ala1944Thr)
c.5716G>A (p.Ala1906Thr)
c.5785G>A (p.Ala1929Thr)
c.5413G>A (p.Ala1805Thr)
c.5569G>A (p.Ala1857Thr)
c.5776G>A (p.Ala1926Thr)
c.5077G>A (p.Ala1693Thr)
c.5824G>A (p.Ala1942Thr)
 dbSNP gnomAD v4
16g.3729218dupCA658823771CREBBPc.5830dup (p.Ala1944GlyfsTer22)
c.5716dup (p.Ala1906GlyfsTer22)
c.5785dup (p.Ala1929GlyfsTer22)
c.5413dup (p.Ala1805GlyfsTer22)
c.5569dup (p.Ala1857GlyfsTer22)
c.5776dup (p.Ala1926GlyfsTer22)
c.5077dup (p.Ala1693GlyfsTer22)
c.5824dup (p.Ala1942GlyfsTer22)
 ClinVar dbSNP gnomAD v4
16g.3729217_3729218dupCA2575893812CREBBPc.5829_5830dup (p.Ala1944GlyfsTer?)
c.5715_5716dup (p.Ala1906GlyfsTer?)
c.5784_5785dup (p.Ala1929GlyfsTer?)
c.5412_5413dup (p.Ala1805GlyfsTer?)
c.5568_5569dup (p.Ala1857GlyfsTer?)
c.5775_5776dup (p.Ala1926GlyfsTer?)
c.5076_5077dup (p.Ala1693GlyfsTer?)
c.5823_5824dup (p.Ala1942GlyfsTer?)
16g.3729218delCA2695222624CREBBPc.5830del (p.Ala1944ProfsTer?)
c.5716del (p.Ala1906ProfsTer?)
c.5785del (p.Ala1929ProfsTer?)
c.5413del (p.Ala1805ProfsTer?)
c.5569del (p.Ala1857ProfsTer?)
c.5776del (p.Ala1926ProfsTer?)
c.5077del (p.Ala1693ProfsTer?)
c.5824del (p.Ala1942ProfsTer?)
16g.3729218C>ACA493393936CREBBPc.5829G>T (p.Pro1943=)
c.5715G>T (p.Pro1905=)
c.5784G>T (p.Pro1928=)
c.5412G>T (p.Pro1804=)
c.5568G>T (p.Pro1856=)
c.5775G>T (p.Pro1925=)
c.5076G>T (p.Pro1692=)
c.5823G>T (p.Pro1941=)
 gnomAD v4
16g.3729218C=CA2202916299CREBBPc.5829G= (p.Pro1943=)
c.5715G= (p.Pro1905=)
c.5784G= (p.Pro1928=)
c.5412G= (p.Pro1804=)
c.5568G= (p.Pro1856=)
c.5775G= (p.Pro1925=)
c.5076G= (p.Pro1692=)
c.5823G= (p.Pro1941=)
16g.3729218C>GCA493393937CREBBPc.5829G>C (p.Pro1943=)
c.5715G>C (p.Pro1905=)
c.5784G>C (p.Pro1928=)
c.5412G>C (p.Pro1804=)
c.5568G>C (p.Pro1856=)
c.5775G>C (p.Pro1925=)
c.5076G>C (p.Pro1692=)
c.5823G>C (p.Pro1941=)
 gnomAD v4
16g.3729218C>TCA171800CREBBPc.5829G>A (p.Pro1943=)
c.5715G>A (p.Pro1905=)
c.5784G>A (p.Pro1928=)
c.5412G>A (p.Pro1804=)
c.5568G>A (p.Pro1856=)
c.5775G>A (p.Pro1925=)
c.5076G>A (p.Pro1692=)
c.5823G>A (p.Pro1941=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729219G>ACA7869242CREBBPc.5828C>T (p.Pro1943Leu)
c.5714C>T (p.Pro1905Leu)
c.5783C>T (p.Pro1928Leu)
c.5411C>T (p.Pro1804Leu)
c.5567C>T (p.Pro1856Leu)
c.5774C>T (p.Pro1925Leu)
c.5075C>T (p.Pro1692Leu)
c.5822C>T (p.Pro1941Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729219G>CCA394555329CREBBPc.5828C>G (p.Pro1943Arg)
c.5714C>G (p.Pro1905Arg)
c.5783C>G (p.Pro1928Arg)
c.5411C>G (p.Pro1804Arg)
c.5567C>G (p.Pro1856Arg)
c.5774C>G (p.Pro1925Arg)
c.5075C>G (p.Pro1692Arg)
c.5822C>G (p.Pro1941Arg)
 dbSNP
16g.3729219G=CA2202916300CREBBPc.5828C= (p.Pro1943=)
c.5714C= (p.Pro1905=)
c.5783C= (p.Pro1928=)
c.5411C= (p.Pro1804=)
c.5567C= (p.Pro1856=)
c.5774C= (p.Pro1925=)
c.5075C= (p.Pro1692=)
c.5822C= (p.Pro1941=)
16g.3729219G>TCA394555331CREBBPc.5828C>A (p.Pro1943Gln)
c.5714C>A (p.Pro1905Gln)
c.5783C>A (p.Pro1928Gln)
c.5411C>A (p.Pro1804Gln)
c.5567C>A (p.Pro1856Gln)
c.5774C>A (p.Pro1925Gln)
c.5075C>A (p.Pro1692Gln)
c.5822C>A (p.Pro1941Gln)
 ClinVar gnomAD v4
16g.3729220G>ACA394555334CREBBPc.5827C>T (p.Pro1943Ser)
c.5713C>T (p.Pro1905Ser)
c.5782C>T (p.Pro1928Ser)
c.5410C>T (p.Pro1804Ser)
c.5566C>T (p.Pro1856Ser)
c.5773C>T (p.Pro1925Ser)
c.5074C>T (p.Pro1692Ser)
c.5821C>T (p.Pro1941Ser)
 dbSNP gnomAD v4
16g.3729220G>CCA394555335CREBBPc.5827C>G (p.Pro1943Ala)
c.5713C>G (p.Pro1905Ala)
c.5782C>G (p.Pro1928Ala)
c.5410C>G (p.Pro1804Ala)
c.5566C>G (p.Pro1856Ala)
c.5773C>G (p.Pro1925Ala)
c.5074C>G (p.Pro1692Ala)
c.5821C>G (p.Pro1941Ala)
 dbSNP gnomAD v4
16g.3729220G>TCA394555336CREBBPc.5827C>A (p.Pro1943Thr)
c.5713C>A (p.Pro1905Thr)
c.5782C>A (p.Pro1928Thr)
c.5410C>A (p.Pro1804Thr)
c.5566C>A (p.Pro1856Thr)
c.5773C>A (p.Pro1925Thr)
c.5074C>A (p.Pro1692Thr)
c.5821C>A (p.Pro1941Thr)
 gnomAD v4
16g.3729221C>ACA493393939CREBBPc.5826G>T (p.Val1942=)
c.5712G>T (p.Val1904=)
c.5781G>T (p.Val1927=)
c.5409G>T (p.Val1803=)
c.5565G>T (p.Val1855=)
c.5772G>T (p.Val1924=)
c.5073G>T (p.Val1691=)
c.5820G>T (p.Val1940=)
 dbSNP gnomAD v3 gnomAD v4
16g.3729221C=CA2202916301CREBBPc.5826G= (p.Val1942=)
c.5712G= (p.Val1904=)
c.5781G= (p.Val1927=)
c.5409G= (p.Val1803=)
c.5565G= (p.Val1855=)
c.5772G= (p.Val1924=)
c.5073G= (p.Val1691=)
c.5820G= (p.Val1940=)
16g.3729221C>GCA493393941CREBBPc.5826G>C (p.Val1942=)
c.5712G>C (p.Val1904=)
c.5781G>C (p.Val1927=)
c.5409G>C (p.Val1803=)
c.5565G>C (p.Val1855=)
c.5772G>C (p.Val1924=)
c.5073G>C (p.Val1691=)
c.5820G>C (p.Val1940=)
 dbSNP
16g.3729221C>TCA493393943CREBBPc.5826G>A (p.Val1942=)
c.5712G>A (p.Val1904=)
c.5781G>A (p.Val1927=)
c.5409G>A (p.Val1803=)
c.5565G>A (p.Val1855=)
c.5772G>A (p.Val1924=)
c.5073G>A (p.Val1691=)
c.5820G>A (p.Val1940=)
 dbSNP gnomAD v4
16g.3729221_3729222insGCA2202916302CREBBPc.5825_5826insC (p.Pro1943AlafsTer23)
c.5711_5712insC (p.Pro1905AlafsTer23)
c.5780_5781insC (p.Pro1928AlafsTer23)
c.5408_5409insC (p.Pro1804AlafsTer23)
c.5564_5565insC (p.Pro1856AlafsTer23)
c.5771_5772insC (p.Pro1925AlafsTer23)
c.5072_5073insC (p.Pro1692AlafsTer23)
c.5819_5820insC (p.Pro1941AlafsTer23)
 dbSNP
16g.3729222A>CCA394555338CREBBPc.5825T>G (p.Val1942Gly)
c.5711T>G (p.Val1904Gly)
c.5780T>G (p.Val1927Gly)
c.5408T>G (p.Val1803Gly)
c.5564T>G (p.Val1855Gly)
c.5771T>G (p.Val1924Gly)
c.5072T>G (p.Val1691Gly)
c.5819T>G (p.Val1940Gly)
 dbSNP
16g.3729222A>GCA394555340CREBBPc.5825T>C (p.Val1942Ala)
c.5711T>C (p.Val1904Ala)
c.5780T>C (p.Val1927Ala)
c.5408T>C (p.Val1803Ala)
c.5564T>C (p.Val1855Ala)
c.5771T>C (p.Val1924Ala)
c.5072T>C (p.Val1691Ala)
c.5819T>C (p.Val1940Ala)
 dbSNP
16g.3729222A>TCA394555342CREBBPc.5825T>A (p.Val1942Glu)
c.5711T>A (p.Val1904Glu)
c.5780T>A (p.Val1927Glu)
c.5408T>A (p.Val1803Glu)
c.5564T>A (p.Val1855Glu)
c.5771T>A (p.Val1924Glu)
c.5072T>A (p.Val1691Glu)
c.5819T>A (p.Val1940Glu)
 dbSNP
16g.3729223C>ACA394555344CREBBPc.5824G>T (p.Val1942Leu)
c.5710G>T (p.Val1904Leu)
c.5779G>T (p.Val1927Leu)
c.5407G>T (p.Val1803Leu)
c.5563G>T (p.Val1855Leu)
c.5770G>T (p.Val1924Leu)
c.5071G>T (p.Val1691Leu)
c.5818G>T (p.Val1940Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3729223C=CA2202916303CREBBPc.5824G= (p.Val1942=)
c.5710G= (p.Val1904=)
c.5779G= (p.Val1927=)
c.5407G= (p.Val1803=)
c.5563G= (p.Val1855=)
c.5770G= (p.Val1924=)
c.5071G= (p.Val1691=)
c.5818G= (p.Val1940=)
16g.3729223C>GCA394555347CREBBPc.5824G>C (p.Val1942Leu)
c.5710G>C (p.Val1904Leu)
c.5779G>C (p.Val1927Leu)
c.5407G>C (p.Val1803Leu)
c.5563G>C (p.Val1855Leu)
c.5770G>C (p.Val1924Leu)
c.5071G>C (p.Val1691Leu)
c.5818G>C (p.Val1940Leu)
 dbSNP
16g.3729223C>TCA394555348CREBBPc.5824G>A (p.Val1942Met)
c.5710G>A (p.Val1904Met)
c.5779G>A (p.Val1927Met)
c.5407G>A (p.Val1803Met)
c.5563G>A (p.Val1855Met)
c.5770G>A (p.Val1924Met)
c.5071G>A (p.Val1691Met)
c.5818G>A (p.Val1940Met)
 dbSNP
16g.3729224C>ACA394555351CREBBPc.5823G>T (p.Gln1941His)
c.5709G>T (p.Gln1903His)
c.5778G>T (p.Gln1926His)
c.5406G>T (p.Gln1802His)
c.5562G>T (p.Gln1854His)
c.5769G>T (p.Gln1923His)
c.5070G>T (p.Gln1690His)
c.5817G>T (p.Gln1939His)
16g.3729224C>GCA394555353CREBBPc.5823G>C (p.Gln1941His)
c.5709G>C (p.Gln1903His)
c.5778G>C (p.Gln1926His)
c.5406G>C (p.Gln1802His)
c.5562G>C (p.Gln1854His)
c.5769G>C (p.Gln1923His)
c.5070G>C (p.Gln1690His)
c.5817G>C (p.Gln1939His)
 dbSNP gnomAD v4
16g.3729224C>TCA493393944CREBBPc.5823G>A (p.Gln1941=)
c.5709G>A (p.Gln1903=)
c.5778G>A (p.Gln1926=)
c.5406G>A (p.Gln1802=)
c.5562G>A (p.Gln1854=)
c.5769G>A (p.Gln1923=)
c.5070G>A (p.Gln1690=)
c.5817G>A (p.Gln1939=)
 dbSNP
16g.3729225T>ACA394555358CREBBPc.5822A>T (p.Gln1941Leu)
c.5708A>T (p.Gln1903Leu)
c.5777A>T (p.Gln1926Leu)
c.5405A>T (p.Gln1802Leu)
c.5561A>T (p.Gln1854Leu)
c.5768A>T (p.Gln1923Leu)
c.5069A>T (p.Gln1690Leu)
c.5816A>T (p.Gln1939Leu)
16g.3729225T>CCA394555360CREBBPc.5822A>G (p.Gln1941Arg)
c.5708A>G (p.Gln1903Arg)
c.5777A>G (p.Gln1926Arg)
c.5405A>G (p.Gln1802Arg)
c.5561A>G (p.Gln1854Arg)
c.5768A>G (p.Gln1923Arg)
c.5069A>G (p.Gln1690Arg)
c.5816A>G (p.Gln1939Arg)
16g.3729225T>GCA394555361CREBBPc.5822A>C (p.Gln1941Pro)
c.5708A>C (p.Gln1903Pro)
c.5777A>C (p.Gln1926Pro)
c.5405A>C (p.Gln1802Pro)
c.5561A>C (p.Gln1854Pro)
c.5768A>C (p.Gln1923Pro)
c.5069A>C (p.Gln1690Pro)
c.5816A>C (p.Gln1939Pro)
 gnomAD v4
16g.3729226G>ACA271429CREBBPc.5821C>T (p.Gln1941Ter)
c.5707C>T (p.Gln1903Ter)
c.5776C>T (p.Gln1926Ter)
c.5404C>T (p.Gln1802Ter)
c.5560C>T (p.Gln1854Ter)
c.5767C>T (p.Gln1923Ter)
c.5068C>T (p.Gln1690Ter)
c.5815C>T (p.Gln1939Ter)
 ClinVar dbSNP
16g.3729226G>CCA394555369CREBBPc.5821C>G (p.Gln1941Glu)
c.5707C>G (p.Gln1903Glu)
c.5776C>G (p.Gln1926Glu)
c.5404C>G (p.Gln1802Glu)
c.5560C>G (p.Gln1854Glu)
c.5767C>G (p.Gln1923Glu)
c.5068C>G (p.Gln1690Glu)
c.5815C>G (p.Gln1939Glu)
16g.3729226G=CA2202916304CREBBPc.5821C= (p.Gln1941=)
c.5707C= (p.Gln1903=)
c.5776C= (p.Gln1926=)
c.5404C= (p.Gln1802=)
c.5560C= (p.Gln1854=)
c.5767C= (p.Gln1923=)
c.5068C= (p.Gln1690=)
c.5815C= (p.Gln1939=)
16g.3729226G>TCA394555372CREBBPc.5821C>A (p.Gln1941Lys)
c.5707C>A (p.Gln1903Lys)
c.5776C>A (p.Gln1926Lys)
c.5404C>A (p.Gln1802Lys)
c.5560C>A (p.Gln1854Lys)
c.5767C>A (p.Gln1923Lys)
c.5068C>A (p.Gln1690Lys)
c.5815C>A (p.Gln1939Lys)
 gnomAD v4
16g.3729227G>ACA493393949CREBBPc.5820C>T (p.Ser1940=)
c.5706C>T (p.Ser1902=)
c.5775C>T (p.Ser1925=)
c.5403C>T (p.Ser1801=)
c.5559C>T (p.Ser1853=)
c.5766C>T (p.Ser1922=)
c.5067C>T (p.Ser1689=)
c.5814C>T (p.Ser1938=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729227G>CCA394555377CREBBPc.5820C>G (p.Ser1940Arg)
c.5706C>G (p.Ser1902Arg)
c.5775C>G (p.Ser1925Arg)
c.5403C>G (p.Ser1801Arg)
c.5559C>G (p.Ser1853Arg)
c.5766C>G (p.Ser1922Arg)
c.5067C>G (p.Ser1689Arg)
c.5814C>G (p.Ser1938Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.3729227G=CA2202916305CREBBPc.5820C= (p.Ser1940=)
c.5706C= (p.Ser1902=)
c.5775C= (p.Ser1925=)
c.5403C= (p.Ser1801=)
c.5559C= (p.Ser1853=)
c.5766C= (p.Ser1922=)
c.5067C= (p.Ser1689=)
c.5814C= (p.Ser1938=)
16g.3729227G>TCA394555375CREBBPc.5820C>A (p.Ser1940Arg)
c.5706C>A (p.Ser1902Arg)
c.5775C>A (p.Ser1925Arg)
c.5403C>A (p.Ser1801Arg)
c.5559C>A (p.Ser1853Arg)
c.5766C>A (p.Ser1922Arg)
c.5067C>A (p.Ser1689Arg)
c.5814C>A (p.Ser1938Arg)
 dbSNP gnomAD v4
16g.3729228C>ACA394555379CREBBPc.5819G>T (p.Ser1940Ile)
c.5705G>T (p.Ser1902Ile)
c.5774G>T (p.Ser1925Ile)
c.5402G>T (p.Ser1801Ile)
c.5558G>T (p.Ser1853Ile)
c.5765G>T (p.Ser1922Ile)
c.5066G>T (p.Ser1689Ile)
c.5813G>T (p.Ser1938Ile)
 dbSNP gnomAD v4
16g.3729228C>GCA394555381CREBBPc.5819G>C (p.Ser1940Thr)
c.5705G>C (p.Ser1902Thr)
c.5774G>C (p.Ser1925Thr)
c.5402G>C (p.Ser1801Thr)
c.5558G>C (p.Ser1853Thr)
c.5765G>C (p.Ser1922Thr)
c.5066G>C (p.Ser1689Thr)
c.5813G>C (p.Ser1938Thr)
 dbSNP
16g.3729228C>TCA394555383CREBBPc.5819G>A (p.Ser1940Asn)
c.5705G>A (p.Ser1902Asn)
c.5774G>A (p.Ser1925Asn)
c.5402G>A (p.Ser1801Asn)
c.5558G>A (p.Ser1853Asn)
c.5765G>A (p.Ser1922Asn)
c.5066G>A (p.Ser1689Asn)
c.5813G>A (p.Ser1938Asn)
 dbSNP
16g.3729229T>ACA394555385CREBBPc.5818A>T (p.Ser1940Cys)
c.5704A>T (p.Ser1902Cys)
c.5773A>T (p.Ser1925Cys)
c.5401A>T (p.Ser1801Cys)
c.5557A>T (p.Ser1853Cys)
c.5764A>T (p.Ser1922Cys)
c.5065A>T (p.Ser1689Cys)
c.5812A>T (p.Ser1938Cys)
 COSMIC
16g.3729229T>CCA394555387CREBBPc.5818A>G (p.Ser1940Gly)
c.5704A>G (p.Ser1902Gly)
c.5773A>G (p.Ser1925Gly)
c.5401A>G (p.Ser1801Gly)
c.5557A>G (p.Ser1853Gly)
c.5764A>G (p.Ser1922Gly)
c.5065A>G (p.Ser1689Gly)
c.5812A>G (p.Ser1938Gly)
16g.3729229T>GCA394555388CREBBPc.5818A>C (p.Ser1940Arg)
c.5704A>C (p.Ser1902Arg)
c.5773A>C (p.Ser1925Arg)
c.5401A>C (p.Ser1801Arg)
c.5557A>C (p.Ser1853Arg)
c.5764A>C (p.Ser1922Arg)
c.5065A>C (p.Ser1689Arg)
c.5812A>C (p.Ser1938Arg)
16g.3729230G>ACA493393953CREBBPc.5817C>T (p.Thr1939=)
c.5703C>T (p.Thr1901=)
c.5772C>T (p.Thr1924=)
c.5400C>T (p.Thr1800=)
c.5556C>T (p.Thr1852=)
c.5763C>T (p.Thr1921=)
c.5064C>T (p.Thr1688=)
c.5811C>T (p.Thr1937=)
 dbSNP gnomAD v2 gnomAD v4
16g.3729230G>CCA493393955CREBBPc.5817C>G (p.Thr1939=)
c.5703C>G (p.Thr1901=)
c.5772C>G (p.Thr1924=)
c.5400C>G (p.Thr1800=)
c.5556C>G (p.Thr1852=)
c.5763C>G (p.Thr1921=)
c.5064C>G (p.Thr1688=)
c.5811C>G (p.Thr1937=)
16g.3729230G=CA2202916306CREBBPc.5817C= (p.Thr1939=)
c.5703C= (p.Thr1901=)
c.5772C= (p.Thr1924=)
c.5400C= (p.Thr1800=)
c.5556C= (p.Thr1852=)
c.5763C= (p.Thr1921=)
c.5064C= (p.Thr1688=)
c.5811C= (p.Thr1937=)
16g.3729230G>TCA493393956CREBBPc.5817C>A (p.Thr1939=)
c.5703C>A (p.Thr1901=)
c.5772C>A (p.Thr1924=)
c.5400C>A (p.Thr1800=)
c.5556C>A (p.Thr1852=)
c.5763C>A (p.Thr1921=)
c.5064C>A (p.Thr1688=)
c.5811C>A (p.Thr1937=)
 ClinVar
16g.3729231G>ACA394555390CREBBPc.5816C>T (p.Thr1939Ile)
c.5702C>T (p.Thr1901Ile)
c.5771C>T (p.Thr1924Ile)
c.5399C>T (p.Thr1800Ile)
c.5555C>T (p.Thr1852Ile)
c.5762C>T (p.Thr1921Ile)
c.5063C>T (p.Thr1688Ile)
c.5810C>T (p.Thr1937Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.3729231G>CCA394555394CREBBPc.5816C>G (p.Thr1939Ser)
c.5702C>G (p.Thr1901Ser)
c.5771C>G (p.Thr1924Ser)
c.5399C>G (p.Thr1800Ser)
c.5555C>G (p.Thr1852Ser)
c.5762C>G (p.Thr1921Ser)
c.5063C>G (p.Thr1688Ser)
c.5810C>G (p.Thr1937Ser)
 dbSNP
16g.3729231G=CA2202916307CREBBPc.5816C= (p.Thr1939=)
c.5702C= (p.Thr1901=)
c.5771C= (p.Thr1924=)
c.5399C= (p.Thr1800=)
c.5555C= (p.Thr1852=)
c.5762C= (p.Thr1921=)
c.5063C= (p.Thr1688=)
c.5810C= (p.Thr1937=)
16g.3729231G>TCA394555392CREBBPc.5816C>A (p.Thr1939Asn)
c.5702C>A (p.Thr1901Asn)
c.5771C>A (p.Thr1924Asn)
c.5399C>A (p.Thr1800Asn)
c.5555C>A (p.Thr1852Asn)
c.5762C>A (p.Thr1921Asn)
c.5063C>A (p.Thr1688Asn)
c.5810C>A (p.Thr1937Asn)
 dbSNP
16g.3729232T>ACA394555396CREBBPc.5815A>T (p.Thr1939Ser)
c.5701A>T (p.Thr1901Ser)
c.5770A>T (p.Thr1924Ser)
c.5398A>T (p.Thr1800Ser)
c.5554A>T (p.Thr1852Ser)
c.5761A>T (p.Thr1921Ser)
c.5062A>T (p.Thr1688Ser)
c.5809A>T (p.Thr1937Ser)
 dbSNP
16g.3729232T>CCA394555398CREBBPc.5815A>G (p.Thr1939Ala)
c.5701A>G (p.Thr1901Ala)
c.5770A>G (p.Thr1924Ala)
c.5398A>G (p.Thr1800Ala)
c.5554A>G (p.Thr1852Ala)
c.5761A>G (p.Thr1921Ala)
c.5062A>G (p.Thr1688Ala)
c.5809A>G (p.Thr1937Ala)
 dbSNP
16g.3729232T>GCA394555400CREBBPc.5815A>C (p.Thr1939Pro)
c.5701A>C (p.Thr1901Pro)
c.5770A>C (p.Thr1924Pro)
c.5398A>C (p.Thr1800Pro)
c.5554A>C (p.Thr1852Pro)
c.5761A>C (p.Thr1921Pro)
c.5062A>C (p.Thr1688Pro)
c.5809A>C (p.Thr1937Pro)
 dbSNP gnomAD v4
16g.3729233delCA2695222625CREBBPc.5814del (p.Thr1939ProfsTer?)
c.5700del (p.Thr1901ProfsTer?)
c.5769del (p.Thr1924ProfsTer?)
c.5397del (p.Thr1800ProfsTer?)
c.5553del (p.Thr1852ProfsTer?)
c.5760del (p.Thr1921ProfsTer?)
c.5061del (p.Thr1688ProfsTer?)
c.5808del (p.Thr1937ProfsTer?)
16g.3729233A>CCA493393957CREBBPc.5814T>G (p.Pro1938=)
c.5700T>G (p.Pro1900=)
c.5769T>G (p.Pro1923=)
c.5397T>G (p.Pro1799=)
c.5553T>G (p.Pro1851=)
c.5760T>G (p.Pro1920=)
c.5061T>G (p.Pro1687=)
c.5808T>G (p.Pro1936=)
16g.3729233A>GCA493393958CREBBPc.5814T>C (p.Pro1938=)
c.5700T>C (p.Pro1900=)
c.5769T>C (p.Pro1923=)
c.5397T>C (p.Pro1799=)
c.5553T>C (p.Pro1851=)
c.5760T>C (p.Pro1920=)
c.5061T>C (p.Pro1687=)
c.5808T>C (p.Pro1936=)
 dbSNP
16g.3729233A>TCA493393959CREBBPc.5814T>A (p.Pro1938=)
c.5700T>A (p.Pro1900=)
c.5769T>A (p.Pro1923=)
c.5397T>A (p.Pro1799=)
c.5553T>A (p.Pro1851=)
c.5760T>A (p.Pro1920=)
c.5061T>A (p.Pro1687=)
c.5808T>A (p.Pro1936=)
 dbSNP
16g.3729234G>ACA394555403CREBBPc.5813C>T (p.Pro1938Leu)
c.5699C>T (p.Pro1900Leu)
c.5768C>T (p.Pro1923Leu)
c.5396C>T (p.Pro1799Leu)
c.5552C>T (p.Pro1851Leu)
c.5759C>T (p.Pro1920Leu)
c.5060C>T (p.Pro1687Leu)
c.5807C>T (p.Pro1936Leu)
 dbSNP gnomAD v4
16g.3729234G>CCA394555404CREBBPc.5813C>G (p.Pro1938Arg)
c.5699C>G (p.Pro1900Arg)
c.5768C>G (p.Pro1923Arg)
c.5396C>G (p.Pro1799Arg)
c.5552C>G (p.Pro1851Arg)
c.5759C>G (p.Pro1920Arg)
c.5060C>G (p.Pro1687Arg)
c.5807C>G (p.Pro1936Arg)
 dbSNP
16g.3729234G>TCA394555406CREBBPc.5813C>A (p.Pro1938His)
c.5699C>A (p.Pro1900His)
c.5768C>A (p.Pro1923His)
c.5396C>A (p.Pro1799His)
c.5552C>A (p.Pro1851His)
c.5759C>A (p.Pro1920His)
c.5060C>A (p.Pro1687His)
c.5807C>A (p.Pro1936His)
 dbSNP COSMIC
16g.3729235G>ACA394555408CREBBPc.5812C>T (p.Pro1938Ser)
c.5698C>T (p.Pro1900Ser)
c.5767C>T (p.Pro1923Ser)
c.5395C>T (p.Pro1799Ser)
c.5551C>T (p.Pro1851Ser)
c.5758C>T (p.Pro1920Ser)
c.5059C>T (p.Pro1687Ser)
c.5806C>T (p.Pro1936Ser)
 dbSNP gnomAD v4
16g.3729235G>CCA394555410CREBBPc.5812C>G (p.Pro1938Ala)
c.5698C>G (p.Pro1900Ala)
c.5767C>G (p.Pro1923Ala)
c.5395C>G (p.Pro1799Ala)
c.5551C>G (p.Pro1851Ala)
c.5758C>G (p.Pro1920Ala)
c.5059C>G (p.Pro1687Ala)
c.5806C>G (p.Pro1936Ala)
 dbSNP gnomAD v4
16g.3729235G>TCA394555411CREBBPc.5812C>A (p.Pro1938Thr)
c.5698C>A (p.Pro1900Thr)
c.5767C>A (p.Pro1923Thr)
c.5395C>A (p.Pro1799Thr)
c.5551C>A (p.Pro1851Thr)
c.5758C>A (p.Pro1920Thr)
c.5059C>A (p.Pro1687Thr)
c.5806C>A (p.Pro1936Thr)
 gnomAD v4
16g.3729236C>ACA276972016CREBBPc.5811G>T (p.Lys1937Asn)
c.5697G>T (p.Lys1899Asn)
c.5766G>T (p.Lys1922Asn)
c.5394G>T (p.Lys1798Asn)
c.5550G>T (p.Lys1850Asn)
c.5757G>T (p.Lys1919Asn)
c.5058G>T (p.Lys1686Asn)
c.5805G>T (p.Lys1935Asn)
 dbSNP gnomAD v4
16g.3729236C=CA2202916308CREBBPc.5811G= (p.Lys1937=)
c.5697G= (p.Lys1899=)
c.5766G= (p.Lys1922=)
c.5394G= (p.Lys1798=)
c.5550G= (p.Lys1850=)
c.5757G= (p.Lys1919=)
c.5058G= (p.Lys1686=)
c.5805G= (p.Lys1935=)
16g.3729236C>GCA394555415CREBBPc.5811G>C (p.Lys1937Asn)
c.5697G>C (p.Lys1899Asn)
c.5766G>C (p.Lys1922Asn)
c.5394G>C (p.Lys1798Asn)
c.5550G>C (p.Lys1850Asn)
c.5757G>C (p.Lys1919Asn)
c.5058G>C (p.Lys1686Asn)
c.5805G>C (p.Lys1935Asn)
 dbSNP
16g.3729236C>TCA493393963CREBBPc.5811G>A (p.Lys1937=)
c.5697G>A (p.Lys1899=)
c.5766G>A (p.Lys1922=)
c.5394G>A (p.Lys1798=)
c.5550G>A (p.Lys1850=)
c.5757G>A (p.Lys1919=)
c.5058G>A (p.Lys1686=)
c.5805G>A (p.Lys1935=)
 dbSNP
16g.3729237T>ACA394555420CREBBPc.5810A>T (p.Lys1937Met)
c.5696A>T (p.Lys1899Met)
c.5765A>T (p.Lys1922Met)
c.5393A>T (p.Lys1798Met)
c.5549A>T (p.Lys1850Met)
c.5756A>T (p.Lys1919Met)
c.5057A>T (p.Lys1686Met)
c.5804A>T (p.Lys1935Met)
16g.3729237T>CCA394555418CREBBPc.5810A>G (p.Lys1937Arg)
c.5696A>G (p.Lys1899Arg)
c.5765A>G (p.Lys1922Arg)
c.5393A>G (p.Lys1798Arg)
c.5549A>G (p.Lys1850Arg)
c.5756A>G (p.Lys1919Arg)
c.5057A>G (p.Lys1686Arg)
c.5804A>G (p.Lys1935Arg)
 dbSNP
16g.3729237T>GCA394555416CREBBPc.5810A>C (p.Lys1937Thr)
c.5696A>C (p.Lys1899Thr)
c.5765A>C (p.Lys1922Thr)
c.5393A>C (p.Lys1798Thr)
c.5549A>C (p.Lys1850Thr)
c.5756A>C (p.Lys1919Thr)
c.5057A>C (p.Lys1686Thr)
c.5804A>C (p.Lys1935Thr)
16g.3729238T>ACA394555423CREBBPc.5809A>T (p.Lys1937Ter)
c.5695A>T (p.Lys1899Ter)
c.5764A>T (p.Lys1922Ter)
c.5392A>T (p.Lys1798Ter)
c.5548A>T (p.Lys1850Ter)
c.5755A>T (p.Lys1919Ter)
c.5056A>T (p.Lys1686Ter)
c.5803A>T (p.Lys1935Ter)
16g.3729238T>CCA394555427CREBBPc.5809A>G (p.Lys1937Glu)
c.5695A>G (p.Lys1899Glu)
c.5764A>G (p.Lys1922Glu)
c.5392A>G (p.Lys1798Glu)
c.5548A>G (p.Lys1850Glu)
c.5755A>G (p.Lys1919Glu)
c.5056A>G (p.Lys1686Glu)
c.5803A>G (p.Lys1935Glu)
 dbSNP
16g.3729238T>GCA394555425CREBBPc.5809A>C (p.Lys1937Gln)
c.5695A>C (p.Lys1899Gln)
c.5764A>C (p.Lys1922Gln)
c.5392A>C (p.Lys1798Gln)
c.5548A>C (p.Lys1850Gln)
c.5755A>C (p.Lys1919Gln)
c.5056A>C (p.Lys1686Gln)
c.5803A>C (p.Lys1935Gln)
16g.3729239C>ACA493393967CREBBPc.5808G>T (p.Gly1936=)
c.5694G>T (p.Gly1898=)
c.5763G>T (p.Gly1921=)
c.5391G>T (p.Gly1797=)
c.5547G>T (p.Gly1849=)
c.5754G>T (p.Gly1918=)
c.5055G>T (p.Gly1685=)
c.5802G>T (p.Gly1934=)
16g.3729239C=CA2202916309CREBBPc.5808G= (p.Gly1936=)
c.5694G= (p.Gly1898=)
c.5763G= (p.Gly1921=)
c.5391G= (p.Gly1797=)
c.5547G= (p.Gly1849=)
c.5754G= (p.Gly1918=)
c.5055G= (p.Gly1685=)
c.5802G= (p.Gly1934=)
16g.3729239C>GCA493393968CREBBPc.5808G>C (p.Gly1936=)
c.5694G>C (p.Gly1898=)
c.5763G>C (p.Gly1921=)
c.5391G>C (p.Gly1797=)
c.5547G>C (p.Gly1849=)
c.5754G>C (p.Gly1918=)
c.5055G>C (p.Gly1685=)
c.5802G>C (p.Gly1934=)
 dbSNP
16g.3729239C>TCA493393969CREBBPc.5808G>A (p.Gly1936=)
c.5694G>A (p.Gly1898=)
c.5763G>A (p.Gly1921=)
c.5391G>A (p.Gly1797=)
c.5547G>A (p.Gly1849=)
c.5754G>A (p.Gly1918=)
c.5055G>A (p.Gly1685=)
c.5802G>A (p.Gly1934=)
 dbSNP gnomAD v3 gnomAD v4
16g.3729240C>ACA394555432CREBBPc.5807G>T (p.Gly1936Val)
c.5693G>T (p.Gly1898Val)
c.5762G>T (p.Gly1921Val)
c.5390G>T (p.Gly1797Val)
c.5546G>T (p.Gly1849Val)
c.5753G>T (p.Gly1918Val)
c.5054G>T (p.Gly1685Val)
c.5801G>T (p.Gly1934Val)
16g.3729240C>GCA394555434CREBBPc.5807G>C (p.Gly1936Ala)
c.5693G>C (p.Gly1898Ala)
c.5762G>C (p.Gly1921Ala)
c.5390G>C (p.Gly1797Ala)
c.5546G>C (p.Gly1849Ala)
c.5753G>C (p.Gly1918Ala)
c.5054G>C (p.Gly1685Ala)
c.5801G>C (p.Gly1934Ala)
16g.3729240C>TCA394555433CREBBPc.5807G>A (p.Gly1936Glu)
c.5693G>A (p.Gly1898Glu)
c.5762G>A (p.Gly1921Glu)
c.5390G>A (p.Gly1797Glu)
c.5546G>A (p.Gly1849Glu)
c.5753G>A (p.Gly1918Glu)
c.5054G>A (p.Gly1685Glu)
c.5801G>A (p.Gly1934Glu)
 dbSNP
16g.3729241C>ACA394555435CREBBPc.5806G>T (p.Gly1936Trp)
c.5692G>T (p.Gly1898Trp)
c.5761G>T (p.Gly1921Trp)
c.5389G>T (p.Gly1797Trp)
c.5545G>T (p.Gly1849Trp)
c.5752G>T (p.Gly1918Trp)
c.5053G>T (p.Gly1685Trp)
c.5800G>T (p.Gly1934Trp)
 dbSNP
16g.3729241C>GCA394555438CREBBPc.5806G>C (p.Gly1936Arg)
c.5692G>C (p.Gly1898Arg)
c.5761G>C (p.Gly1921Arg)
c.5389G>C (p.Gly1797Arg)
c.5545G>C (p.Gly1849Arg)
c.5752G>C (p.Gly1918Arg)
c.5053G>C (p.Gly1685Arg)
c.5800G>C (p.Gly1934Arg)
 dbSNP
16g.3729241C>TCA394555436CREBBPc.5806G>A (p.Gly1936Arg)
c.5692G>A (p.Gly1898Arg)
c.5761G>A (p.Gly1921Arg)
c.5389G>A (p.Gly1797Arg)
c.5545G>A (p.Gly1849Arg)
c.5752G>A (p.Gly1918Arg)
c.5053G>A (p.Gly1685Arg)
c.5800G>A (p.Gly1934Arg)
 dbSNP
16g.3729242T>ACA493393974CREBBPc.5805A>T (p.Thr1935=)
c.5691A>T (p.Thr1897=)
c.5760A>T (p.Thr1920=)
c.5388A>T (p.Thr1796=)
c.5544A>T (p.Thr1848=)
c.5751A>T (p.Thr1917=)
c.5052A>T (p.Thr1684=)
c.5799A>T (p.Thr1933=)
 dbSNP
16g.3729242T>CCA493393975CREBBPc.5805A>G (p.Thr1935=)
c.5691A>G (p.Thr1897=)
c.5760A>G (p.Thr1920=)
c.5388A>G (p.Thr1796=)
c.5544A>G (p.Thr1848=)
c.5751A>G (p.Thr1917=)
c.5052A>G (p.Thr1684=)
c.5799A>G (p.Thr1933=)
 dbSNP
16g.3729242T>GCA493393976CREBBPc.5805A>C (p.Thr1935=)
c.5691A>C (p.Thr1897=)
c.5760A>C (p.Thr1920=)
c.5388A>C (p.Thr1796=)
c.5544A>C (p.Thr1848=)
c.5751A>C (p.Thr1917=)
c.5052A>C (p.Thr1684=)
c.5799A>C (p.Thr1933=)
 dbSNP gnomAD v4
16g.3729242_3729251delinsTGTGGACACCCA2202916310CREBBPc.5796_5805delinsGGTGTCCACA (p.Thr1932=)
c.5682_5691delinsGGTGTCCACA (p.Thr1894=)
c.5751_5760delinsGGTGTCCACA (p.Thr1917=)
c.5379_5388delinsGGTGTCCACA (p.Thr1793=)
c.5535_5544delinsGGTGTCCACA (p.Thr1845=)
c.5742_5751delinsGGTGTCCACA (p.Thr1914=)
c.5043_5052delinsGGTGTCCACA (p.Thr1681=)
c.5790_5799delinsGGTGTCCACA (p.Thr1930=)
16g.3729243G>ACA394555440CREBBPc.5804C>T (p.Thr1935Ile)
c.5690C>T (p.Thr1897Ile)
c.5759C>T (p.Thr1920Ile)
c.5387C>T (p.Thr1796Ile)
c.5543C>T (p.Thr1848Ile)
c.5750C>T (p.Thr1917Ile)
c.5051C>T (p.Thr1684Ile)
c.5798C>T (p.Thr1933Ile)
 ClinVar dbSNP gnomAD v4
16g.3729243G>CCA394555444CREBBPc.5804C>G (p.Thr1935Arg)
c.5690C>G (p.Thr1897Arg)
c.5759C>G (p.Thr1920Arg)
c.5387C>G (p.Thr1796Arg)
c.5543C>G (p.Thr1848Arg)
c.5750C>G (p.Thr1917Arg)
c.5051C>G (p.Thr1684Arg)
c.5798C>G (p.Thr1933Arg)
 dbSNP gnomAD v4
16g.3729243G>TCA394555442CREBBPc.5804C>A (p.Thr1935Lys)
c.5690C>A (p.Thr1897Lys)
c.5759C>A (p.Thr1920Lys)
c.5387C>A (p.Thr1796Lys)
c.5543C>A (p.Thr1848Lys)
c.5750C>A (p.Thr1917Lys)
c.5051C>A (p.Thr1684Lys)
c.5798C>A (p.Thr1933Lys)
 dbSNP gnomAD v4
16g.3729247_3729255delCA276972020CREBBPc.5796_5804del (p.Val1933_Thr1935del)
c.5682_5690del (p.Val1895_Thr1897del)
c.5751_5759del (p.Val1918_Thr1920del)
c.5379_5387del (p.Val1794_Thr1796del)
c.5535_5543del (p.Val1846_Thr1848del)
c.5742_5750del (p.Val1915_Thr1917del)
c.5043_5051del (p.Val1682_Thr1684del)
c.5790_5798del (p.Val1931_Thr1933del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729244T>ACA394555445CREBBPc.5803A>T (p.Thr1935Ser)
c.5689A>T (p.Thr1897Ser)
c.5758A>T (p.Thr1920Ser)
c.5386A>T (p.Thr1796Ser)
c.5542A>T (p.Thr1848Ser)
c.5749A>T (p.Thr1917Ser)
c.5050A>T (p.Thr1684Ser)
c.5797A>T (p.Thr1933Ser)
 dbSNP
16g.3729244T>CCA394555450CREBBPc.5803A>G (p.Thr1935Ala)
c.5689A>G (p.Thr1897Ala)
c.5758A>G (p.Thr1920Ala)
c.5386A>G (p.Thr1796Ala)
c.5542A>G (p.Thr1848Ala)
c.5749A>G (p.Thr1917Ala)
c.5050A>G (p.Thr1684Ala)
c.5797A>G (p.Thr1933Ala)
16g.3729244T>GCA394555447CREBBPc.5803A>C (p.Thr1935Pro)
c.5689A>C (p.Thr1897Pro)
c.5758A>C (p.Thr1920Pro)
c.5386A>C (p.Thr1796Pro)
c.5542A>C (p.Thr1848Pro)
c.5749A>C (p.Thr1917Pro)
c.5050A>C (p.Thr1684Pro)
c.5797A>C (p.Thr1933Pro)
 gnomAD v4
16g.3729245G>ACA493393983CREBBPc.5802C>T (p.Ser1934=)
c.5688C>T (p.Ser1896=)
c.5757C>T (p.Ser1919=)
c.5385C>T (p.Ser1795=)
c.5541C>T (p.Ser1847=)
c.5748C>T (p.Ser1916=)
c.5049C>T (p.Ser1683=)
c.5796C>T (p.Ser1932=)
 dbSNP
16g.3729245G>CCA493393985CREBBPc.5802C>G (p.Ser1934=)
c.5688C>G (p.Ser1896=)
c.5757C>G (p.Ser1919=)
c.5385C>G (p.Ser1795=)
c.5541C>G (p.Ser1847=)
c.5748C>G (p.Ser1916=)
c.5049C>G (p.Ser1683=)
c.5796C>G (p.Ser1932=)
16g.3729245G>TCA493393986CREBBPc.5802C>A (p.Ser1934=)
c.5688C>A (p.Ser1896=)
c.5757C>A (p.Ser1919=)
c.5385C>A (p.Ser1795=)
c.5541C>A (p.Ser1847=)
c.5748C>A (p.Ser1916=)
c.5049C>A (p.Ser1683=)
c.5796C>A (p.Ser1932=)
16g.3729246delCA2731851114CREBBPc.5802del (p.Thr1935GlnfsTer?)
c.5688del (p.Thr1897GlnfsTer?)
c.5757del (p.Thr1920GlnfsTer?)
c.5385del (p.Thr1796GlnfsTer?)
c.5541del (p.Thr1848GlnfsTer?)
c.5748del (p.Thr1917GlnfsTer?)
c.5049del (p.Thr1684GlnfsTer?)
c.5796del (p.Thr1933GlnfsTer?)
 dbSNP
16g.3729246G>ACA394555451CREBBPc.5801C>T (p.Ser1934Phe)
c.5687C>T (p.Ser1896Phe)
c.5756C>T (p.Ser1919Phe)
c.5384C>T (p.Ser1795Phe)
c.5540C>T (p.Ser1847Phe)
c.5747C>T (p.Ser1916Phe)
c.5048C>T (p.Ser1683Phe)
c.5795C>T (p.Ser1932Phe)
 dbSNP
16g.3729246G>CCA394555452CREBBPc.5801C>G (p.Ser1934Cys)
c.5687C>G (p.Ser1896Cys)
c.5756C>G (p.Ser1919Cys)
c.5384C>G (p.Ser1795Cys)
c.5540C>G (p.Ser1847Cys)
c.5747C>G (p.Ser1916Cys)
c.5048C>G (p.Ser1683Cys)
c.5795C>G (p.Ser1932Cys)
 dbSNP
16g.3729246G>TCA394555453CREBBPc.5801C>A (p.Ser1934Tyr)
c.5687C>A (p.Ser1896Tyr)
c.5756C>A (p.Ser1919Tyr)
c.5384C>A (p.Ser1795Tyr)
c.5540C>A (p.Ser1847Tyr)
c.5747C>A (p.Ser1916Tyr)
c.5048C>A (p.Ser1683Tyr)
c.5795C>A (p.Ser1932Tyr)
 dbSNP gnomAD v4
16g.3729247A=CA2202916311CREBBPc.5800T= (p.Ser1934=)
c.5686T= (p.Ser1896=)
c.5755T= (p.Ser1919=)
c.5383T= (p.Ser1795=)
c.5539T= (p.Ser1847=)
c.5746T= (p.Ser1916=)
c.5047T= (p.Ser1683=)
c.5794T= (p.Ser1932=)
16g.3729247A>CCA394555454CREBBPc.5800T>G (p.Ser1934Ala)
c.5686T>G (p.Ser1896Ala)
c.5755T>G (p.Ser1919Ala)
c.5383T>G (p.Ser1795Ala)
c.5539T>G (p.Ser1847Ala)
c.5746T>G (p.Ser1916Ala)
c.5047T>G (p.Ser1683Ala)
c.5794T>G (p.Ser1932Ala)
 dbSNP
16g.3729247A>GCA243769CREBBPc.5800T>C (p.Ser1934Pro)
c.5686T>C (p.Ser1896Pro)
c.5755T>C (p.Ser1919Pro)
c.5383T>C (p.Ser1795Pro)
c.5539T>C (p.Ser1847Pro)
c.5746T>C (p.Ser1916Pro)
c.5047T>C (p.Ser1683Pro)
c.5794T>C (p.Ser1932Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729247A>TCA394555456CREBBPc.5800T>A (p.Ser1934Thr)
c.5686T>A (p.Ser1896Thr)
c.5755T>A (p.Ser1919Thr)
c.5383T>A (p.Ser1795Thr)
c.5539T>A (p.Ser1847Thr)
c.5746T>A (p.Ser1916Thr)
c.5047T>A (p.Ser1683Thr)
c.5794T>A (p.Ser1932Thr)
 dbSNP
16g.3729247_3729248insGCA645575159CREBBPc.5799_5800insC (p.Ser1934LeufsTer?)
c.5685_5686insC (p.Ser1896LeufsTer?)
c.5754_5755insC (p.Ser1919LeufsTer?)
c.5382_5383insC (p.Ser1795LeufsTer?)
c.5538_5539insC (p.Ser1847LeufsTer?)
c.5745_5746insC (p.Ser1916LeufsTer?)
c.5046_5047insC (p.Ser1683LeufsTer?)
c.5793_5794insC (p.Ser1932LeufsTer?)
 COSMIC
16g.3729248C>ACA493393987CREBBPc.5799G>T (p.Val1933=)
c.5685G>T (p.Val1895=)
c.5754G>T (p.Val1918=)
c.5382G>T (p.Val1794=)
c.5538G>T (p.Val1846=)
c.5745G>T (p.Val1915=)
c.5046G>T (p.Val1682=)
c.5793G>T (p.Val1931=)
16g.3729248C>GCA493393988CREBBPc.5799G>C (p.Val1933=)
c.5685G>C (p.Val1895=)
c.5754G>C (p.Val1918=)
c.5382G>C (p.Val1794=)
c.5538G>C (p.Val1846=)
c.5745G>C (p.Val1915=)
c.5046G>C (p.Val1682=)
c.5793G>C (p.Val1931=)
 dbSNP
16g.3729248C>TCA493393989CREBBPc.5799G>A (p.Val1933=)
c.5685G>A (p.Val1895=)
c.5754G>A (p.Val1918=)
c.5382G>A (p.Val1794=)
c.5538G>A (p.Val1846=)
c.5745G>A (p.Val1915=)
c.5046G>A (p.Val1682=)
c.5793G>A (p.Val1931=)
 dbSNP gnomAD v4
16g.3729249A>CCA394555458CREBBPc.5798T>G (p.Val1933Gly)
c.5684T>G (p.Val1895Gly)
c.5753T>G (p.Val1918Gly)
c.5381T>G (p.Val1794Gly)
c.5537T>G (p.Val1846Gly)
c.5744T>G (p.Val1915Gly)
c.5045T>G (p.Val1682Gly)
c.5792T>G (p.Val1931Gly)
 dbSNP
16g.3729249A>GCA394555460CREBBPc.5798T>C (p.Val1933Ala)
c.5684T>C (p.Val1895Ala)
c.5753T>C (p.Val1918Ala)
c.5381T>C (p.Val1794Ala)
c.5537T>C (p.Val1846Ala)
c.5744T>C (p.Val1915Ala)
c.5045T>C (p.Val1682Ala)
c.5792T>C (p.Val1931Ala)
 dbSNP gnomAD v4
16g.3729249A>TCA394555462CREBBPc.5798T>A (p.Val1933Glu)
c.5684T>A (p.Val1895Glu)
c.5753T>A (p.Val1918Glu)
c.5381T>A (p.Val1794Glu)
c.5537T>A (p.Val1846Glu)
c.5744T>A (p.Val1915Glu)
c.5045T>A (p.Val1682Glu)
c.5792T>A (p.Val1931Glu)
 dbSNP

Number of alleles fetched