Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
16g.3729250C>ACA394555466CREBBPc.5797G>T (p.Val1933Leu)
c.5683G>T (p.Val1895Leu)
c.5752G>T (p.Val1918Leu)
c.5380G>T (p.Val1794Leu)
c.5536G>T (p.Val1846Leu)
c.5743G>T (p.Val1915Leu)
c.5044G>T (p.Val1682Leu)
c.5791G>T (p.Val1931Leu)
16g.3729250C=CA2202916312CREBBPc.5797G= (p.Val1933=)
c.5683G= (p.Val1895=)
c.5752G= (p.Val1918=)
c.5380G= (p.Val1794=)
c.5536G= (p.Val1846=)
c.5743G= (p.Val1915=)
c.5044G= (p.Val1682=)
c.5791G= (p.Val1931=)
16g.3729250C>GCA276972022CREBBPc.5797G>C (p.Val1933Leu)
c.5683G>C (p.Val1895Leu)
c.5752G>C (p.Val1918Leu)
c.5380G>C (p.Val1794Leu)
c.5536G>C (p.Val1846Leu)
c.5743G>C (p.Val1915Leu)
c.5044G>C (p.Val1682Leu)
c.5791G>C (p.Val1931Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729250C>TCA394555464CREBBPc.5797G>A (p.Val1933Met)
c.5683G>A (p.Val1895Met)
c.5752G>A (p.Val1918Met)
c.5380G>A (p.Val1794Met)
c.5536G>A (p.Val1846Met)
c.5743G>A (p.Val1915Met)
c.5044G>A (p.Val1682Met)
c.5791G>A (p.Val1931Met)
dbSNP gnomAD v4
16g.3729251C>ACA493393991CREBBPc.5796G>T (p.Thr1932=)
c.5682G>T (p.Thr1894=)
c.5751G>T (p.Thr1917=)
c.5379G>T (p.Thr1793=)
c.5535G>T (p.Thr1845=)
c.5742G>T (p.Thr1914=)
c.5043G>T (p.Thr1681=)
c.5790G>T (p.Thr1930=)
dbSNP gnomAD v4 COSMIC
16g.3729251C=CA2202916313CREBBPc.5796G= (p.Thr1932=)
c.5682G= (p.Thr1894=)
c.5751G= (p.Thr1917=)
c.5379G= (p.Thr1793=)
c.5535G= (p.Thr1845=)
c.5742G= (p.Thr1914=)
c.5043G= (p.Thr1681=)
c.5790G= (p.Thr1930=)
16g.3729251C>GCA7869244CREBBPc.5796G>C (p.Thr1932=)
c.5682G>C (p.Thr1894=)
c.5751G>C (p.Thr1917=)
c.5379G>C (p.Thr1793=)
c.5535G>C (p.Thr1845=)
c.5742G>C (p.Thr1914=)
c.5043G>C (p.Thr1681=)
c.5790G>C (p.Thr1930=)
dbSNP ExAC gnomAD v4
16g.3729251C>TCA7869243CREBBPc.5796G>A (p.Thr1932=)
c.5682G>A (p.Thr1894=)
c.5751G>A (p.Thr1917=)
c.5379G>A (p.Thr1793=)
c.5535G>A (p.Thr1845=)
c.5742G>A (p.Thr1914=)
c.5043G>A (p.Thr1681=)
c.5790G>A (p.Thr1930=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729252G>ACA276972029CREBBPc.5795C>T (p.Thr1932Met)
c.5681C>T (p.Thr1894Met)
c.5750C>T (p.Thr1917Met)
c.5378C>T (p.Thr1793Met)
c.5534C>T (p.Thr1845Met)
c.5741C>T (p.Thr1914Met)
c.5042C>T (p.Thr1681Met)
c.5789C>T (p.Thr1930Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729252G>CCA394555473CREBBPc.5795C>G (p.Thr1932Arg)
c.5681C>G (p.Thr1894Arg)
c.5750C>G (p.Thr1917Arg)
c.5378C>G (p.Thr1793Arg)
c.5534C>G (p.Thr1845Arg)
c.5741C>G (p.Thr1914Arg)
c.5042C>G (p.Thr1681Arg)
c.5789C>G (p.Thr1930Arg)
dbSNP
16g.3729252G=CA2202916314CREBBPc.5795C= (p.Thr1932=)
c.5681C= (p.Thr1894=)
c.5750C= (p.Thr1917=)
c.5378C= (p.Thr1793=)
c.5534C= (p.Thr1845=)
c.5741C= (p.Thr1914=)
c.5042C= (p.Thr1681=)
c.5789C= (p.Thr1930=)
16g.3729252G>TCA394555475CREBBPc.5795C>A (p.Thr1932Lys)
c.5681C>A (p.Thr1894Lys)
c.5750C>A (p.Thr1917Lys)
c.5378C>A (p.Thr1793Lys)
c.5534C>A (p.Thr1845Lys)
c.5741C>A (p.Thr1914Lys)
c.5042C>A (p.Thr1681Lys)
c.5789C>A (p.Thr1930Lys)
gnomAD v4
16g.3729253T>ACA394555478CREBBPc.5794A>T (p.Thr1932Ser)
c.5680A>T (p.Thr1894Ser)
c.5749A>T (p.Thr1917Ser)
c.5377A>T (p.Thr1793Ser)
c.5533A>T (p.Thr1845Ser)
c.5740A>T (p.Thr1914Ser)
c.5041A>T (p.Thr1681Ser)
c.5788A>T (p.Thr1930Ser)
dbSNP
16g.3729253T>CCA7869245CREBBPc.5794A>G (p.Thr1932Ala)
c.5680A>G (p.Thr1894Ala)
c.5749A>G (p.Thr1917Ala)
c.5377A>G (p.Thr1793Ala)
c.5533A>G (p.Thr1845Ala)
c.5740A>G (p.Thr1914Ala)
c.5041A>G (p.Thr1681Ala)
c.5788A>G (p.Thr1930Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729253T>GCA394555480CREBBPc.5794A>C (p.Thr1932Pro)
c.5680A>C (p.Thr1894Pro)
c.5749A>C (p.Thr1917Pro)
c.5377A>C (p.Thr1793Pro)
c.5533A>C (p.Thr1845Pro)
c.5740A>C (p.Thr1914Pro)
c.5041A>C (p.Thr1681Pro)
c.5788A>C (p.Thr1930Pro)
dbSNP gnomAD v3 gnomAD v4
16g.3729253T=CA2202916315CREBBPc.5794A= (p.Thr1932=)
c.5680A= (p.Thr1894=)
c.5749A= (p.Thr1917=)
c.5377A= (p.Thr1793=)
c.5533A= (p.Thr1845=)
c.5740A= (p.Thr1914=)
c.5041A= (p.Thr1681=)
c.5788A= (p.Thr1930=)
16g.3729254G>ACA493393993CREBBPc.5793C>T (p.Thr1931=)
c.5679C>T (p.Thr1893=)
c.5748C>T (p.Thr1916=)
c.5376C>T (p.Thr1792=)
c.5532C>T (p.Thr1844=)
c.5739C>T (p.Thr1913=)
c.5040C>T (p.Thr1680=)
c.5787C>T (p.Thr1929=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729254G>CCA493393994CREBBPc.5793C>G (p.Thr1931=)
c.5679C>G (p.Thr1893=)
c.5748C>G (p.Thr1916=)
c.5376C>G (p.Thr1792=)
c.5532C>G (p.Thr1844=)
c.5739C>G (p.Thr1913=)
c.5040C>G (p.Thr1680=)
c.5787C>G (p.Thr1929=)
dbSNP gnomAD v4
16g.3729254G=CA2202916316CREBBPc.5793C= (p.Thr1931=)
c.5679C= (p.Thr1893=)
c.5748C= (p.Thr1916=)
c.5376C= (p.Thr1792=)
c.5532C= (p.Thr1844=)
c.5739C= (p.Thr1913=)
c.5040C= (p.Thr1680=)
c.5787C= (p.Thr1929=)
16g.3729254G>TCA493393995CREBBPc.5793C>A (p.Thr1931=)
c.5679C>A (p.Thr1893=)
c.5748C>A (p.Thr1916=)
c.5376C>A (p.Thr1792=)
c.5532C>A (p.Thr1844=)
c.5739C>A (p.Thr1913=)
c.5040C>A (p.Thr1680=)
c.5787C>A (p.Thr1929=)
gnomAD v4
16g.3729255dupCA2695222626CREBBPc.5793dup (p.Thr1932HisfsTer?)
c.5679dup (p.Thr1894HisfsTer?)
c.5748dup (p.Thr1917HisfsTer?)
c.5376dup (p.Thr1793HisfsTer?)
c.5532dup (p.Thr1845HisfsTer?)
c.5739dup (p.Thr1914HisfsTer?)
c.5040dup (p.Thr1681HisfsTer?)
c.5787dup (p.Thr1930HisfsTer?)
16g.3729255G>ACA394555483CREBBPc.5792C>T (p.Thr1931Ile)
c.5678C>T (p.Thr1893Ile)
c.5747C>T (p.Thr1916Ile)
c.5375C>T (p.Thr1792Ile)
c.5531C>T (p.Thr1844Ile)
c.5738C>T (p.Thr1913Ile)
c.5039C>T (p.Thr1680Ile)
c.5786C>T (p.Thr1929Ile)
dbSNP gnomAD v4
16g.3729255G>CCA394555485CREBBPc.5792C>G (p.Thr1931Ser)
c.5678C>G (p.Thr1893Ser)
c.5747C>G (p.Thr1916Ser)
c.5375C>G (p.Thr1792Ser)
c.5531C>G (p.Thr1844Ser)
c.5738C>G (p.Thr1913Ser)
c.5039C>G (p.Thr1680Ser)
c.5786C>G (p.Thr1929Ser)
dbSNP
16g.3729255G>TCA394555486CREBBPc.5792C>A (p.Thr1931Asn)
c.5678C>A (p.Thr1893Asn)
c.5747C>A (p.Thr1916Asn)
c.5375C>A (p.Thr1792Asn)
c.5531C>A (p.Thr1844Asn)
c.5738C>A (p.Thr1913Asn)
c.5039C>A (p.Thr1680Asn)
c.5786C>A (p.Thr1929Asn)
gnomAD v4
16g.3729256T>ACA394555491CREBBPc.5791A>T (p.Thr1931Ser)
c.5677A>T (p.Thr1893Ser)
c.5746A>T (p.Thr1916Ser)
c.5374A>T (p.Thr1792Ser)
c.5530A>T (p.Thr1844Ser)
c.5737A>T (p.Thr1913Ser)
c.5038A>T (p.Thr1680Ser)
c.5785A>T (p.Thr1929Ser)
16g.3729256T>CCA394555492CREBBPc.5791A>G (p.Thr1931Ala)
c.5677A>G (p.Thr1893Ala)
c.5746A>G (p.Thr1916Ala)
c.5374A>G (p.Thr1792Ala)
c.5530A>G (p.Thr1844Ala)
c.5737A>G (p.Thr1913Ala)
c.5038A>G (p.Thr1680Ala)
c.5785A>G (p.Thr1929Ala)
16g.3729256T>GCA394555489CREBBPc.5791A>C (p.Thr1931Pro)
c.5677A>C (p.Thr1893Pro)
c.5746A>C (p.Thr1916Pro)
c.5374A>C (p.Thr1792Pro)
c.5530A>C (p.Thr1844Pro)
c.5737A>C (p.Thr1913Pro)
c.5038A>C (p.Thr1680Pro)
c.5785A>C (p.Thr1929Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729256T=CA2202916317CREBBPc.5791A= (p.Thr1931=)
c.5677A= (p.Thr1893=)
c.5746A= (p.Thr1916=)
c.5374A= (p.Thr1792=)
c.5530A= (p.Thr1844=)
c.5737A= (p.Thr1913=)
c.5038A= (p.Thr1680=)
c.5785A= (p.Thr1929=)
16g.3729257G>ACA7869246CREBBPc.5790C>T (p.Pro1930=)
c.5676C>T (p.Pro1892=)
c.5745C>T (p.Pro1915=)
c.5373C>T (p.Pro1791=)
c.5529C>T (p.Pro1843=)
c.5736C>T (p.Pro1912=)
c.5037C>T (p.Pro1679=)
c.5784C>T (p.Pro1928=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729257G>CCA493394001CREBBPc.5790C>G (p.Pro1930=)
c.5676C>G (p.Pro1892=)
c.5745C>G (p.Pro1915=)
c.5373C>G (p.Pro1791=)
c.5529C>G (p.Pro1843=)
c.5736C>G (p.Pro1912=)
c.5037C>G (p.Pro1679=)
c.5784C>G (p.Pro1928=)
ClinVar gnomAD v4
16g.3729257G=CA2202916318CREBBPc.5790C= (p.Pro1930=)
c.5676C= (p.Pro1892=)
c.5745C= (p.Pro1915=)
c.5373C= (p.Pro1791=)
c.5529C= (p.Pro1843=)
c.5736C= (p.Pro1912=)
c.5037C= (p.Pro1679=)
c.5784C= (p.Pro1928=)
16g.3729257G>TCA493394000CREBBPc.5790C>A (p.Pro1930=)
c.5676C>A (p.Pro1892=)
c.5745C>A (p.Pro1915=)
c.5373C>A (p.Pro1791=)
c.5529C>A (p.Pro1843=)
c.5736C>A (p.Pro1912=)
c.5037C>A (p.Pro1679=)
c.5784C>A (p.Pro1928=)
ClinVar dbSNP gnomAD v4
16g.3729262dupCA915949067CREBBPc.5790dup (p.Thr1931HisfsTer?)
c.5676dup (p.Thr1893HisfsTer?)
c.5745dup (p.Thr1916HisfsTer?)
c.5373dup (p.Thr1792HisfsTer?)
c.5529dup (p.Thr1844HisfsTer?)
c.5736dup (p.Thr1913HisfsTer?)
c.5037dup (p.Thr1680HisfsTer?)
c.5784dup (p.Thr1929HisfsTer?)
ClinVar dbSNP gnomAD v4
16g.3729262delCA645575160CREBBPc.5790del (p.Thr1931ProfsTer?)
c.5676del (p.Thr1893ProfsTer?)
c.5745del (p.Thr1916ProfsTer?)
c.5373del (p.Thr1792ProfsTer?)
c.5529del (p.Thr1844ProfsTer?)
c.5736del (p.Thr1913ProfsTer?)
c.5037del (p.Thr1680ProfsTer?)
c.5784del (p.Thr1929ProfsTer?)
gnomAD v4 COSMIC
16g.3729258G>ACA394555496CREBBPc.5789C>T (p.Pro1930Leu)
c.5675C>T (p.Pro1892Leu)
c.5744C>T (p.Pro1915Leu)
c.5372C>T (p.Pro1791Leu)
c.5528C>T (p.Pro1843Leu)
c.5735C>T (p.Pro1912Leu)
c.5036C>T (p.Pro1679Leu)
c.5783C>T (p.Pro1928Leu)
dbSNP
16g.3729258G>CCA394555497CREBBPc.5789C>G (p.Pro1930Arg)
c.5675C>G (p.Pro1892Arg)
c.5744C>G (p.Pro1915Arg)
c.5372C>G (p.Pro1791Arg)
c.5528C>G (p.Pro1843Arg)
c.5735C>G (p.Pro1912Arg)
c.5036C>G (p.Pro1679Arg)
c.5783C>G (p.Pro1928Arg)
dbSNP
16g.3729258G>TCA394555499CREBBPc.5789C>A (p.Pro1930His)
c.5675C>A (p.Pro1892His)
c.5744C>A (p.Pro1915His)
c.5372C>A (p.Pro1791His)
c.5528C>A (p.Pro1843His)
c.5735C>A (p.Pro1912His)
c.5036C>A (p.Pro1679His)
c.5783C>A (p.Pro1928His)
dbSNP gnomAD v4
16g.3729259G>ACA394555502CREBBPc.5788C>T (p.Pro1930Ser)
c.5674C>T (p.Pro1892Ser)
c.5743C>T (p.Pro1915Ser)
c.5371C>T (p.Pro1791Ser)
c.5527C>T (p.Pro1843Ser)
c.5734C>T (p.Pro1912Ser)
c.5035C>T (p.Pro1679Ser)
c.5782C>T (p.Pro1928Ser)
dbSNP gnomAD v4
16g.3729259G>CCA394555505CREBBPc.5788C>G (p.Pro1930Ala)
c.5674C>G (p.Pro1892Ala)
c.5743C>G (p.Pro1915Ala)
c.5371C>G (p.Pro1791Ala)
c.5527C>G (p.Pro1843Ala)
c.5734C>G (p.Pro1912Ala)
c.5035C>G (p.Pro1679Ala)
c.5782C>G (p.Pro1928Ala)
ClinVar dbSNP
16g.3729259G=CA2202916319CREBBPc.5788C= (p.Pro1930=)
c.5674C= (p.Pro1892=)
c.5743C= (p.Pro1915=)
c.5371C= (p.Pro1791=)
c.5527C= (p.Pro1843=)
c.5734C= (p.Pro1912=)
c.5035C= (p.Pro1679=)
c.5782C= (p.Pro1928=)
16g.3729259G>TCA394555507CREBBPc.5788C>A (p.Pro1930Thr)
c.5674C>A (p.Pro1892Thr)
c.5743C>A (p.Pro1915Thr)
c.5371C>A (p.Pro1791Thr)
c.5527C>A (p.Pro1843Thr)
c.5734C>A (p.Pro1912Thr)
c.5035C>A (p.Pro1679Thr)
c.5782C>A (p.Pro1928Thr)
dbSNP gnomAD v4
16g.3729260G>ACA493394002CREBBPc.5787C>T (p.Pro1929=)
c.5673C>T (p.Pro1891=)
c.5742C>T (p.Pro1914=)
c.5370C>T (p.Pro1790=)
c.5526C>T (p.Pro1842=)
c.5733C>T (p.Pro1911=)
c.5034C>T (p.Pro1678=)
c.5781C>T (p.Pro1927=)
dbSNP gnomAD v3 gnomAD v4
16g.3729260G>CCA493394003CREBBPc.5787C>G (p.Pro1929=)
c.5673C>G (p.Pro1891=)
c.5742C>G (p.Pro1914=)
c.5370C>G (p.Pro1790=)
c.5526C>G (p.Pro1842=)
c.5733C>G (p.Pro1911=)
c.5034C>G (p.Pro1678=)
c.5781C>G (p.Pro1927=)
16g.3729260G=CA2202916320CREBBPc.5787C= (p.Pro1929=)
c.5673C= (p.Pro1891=)
c.5742C= (p.Pro1914=)
c.5370C= (p.Pro1790=)
c.5526C= (p.Pro1842=)
c.5733C= (p.Pro1911=)
c.5034C= (p.Pro1678=)
c.5781C= (p.Pro1927=)
16g.3729260G>TCA493394004CREBBPc.5787C>A (p.Pro1929=)
c.5673C>A (p.Pro1891=)
c.5742C>A (p.Pro1914=)
c.5370C>A (p.Pro1790=)
c.5526C>A (p.Pro1842=)
c.5733C>A (p.Pro1911=)
c.5034C>A (p.Pro1678=)
c.5781C>A (p.Pro1927=)
dbSNP gnomAD v4
16g.3729261G>ACA394555509CREBBPc.5786C>T (p.Pro1929Leu)
c.5672C>T (p.Pro1891Leu)
c.5741C>T (p.Pro1914Leu)
c.5369C>T (p.Pro1790Leu)
c.5525C>T (p.Pro1842Leu)
c.5732C>T (p.Pro1911Leu)
c.5033C>T (p.Pro1678Leu)
c.5780C>T (p.Pro1927Leu)
dbSNP gnomAD v4
16g.3729261G>CCA394555511CREBBPc.5786C>G (p.Pro1929Arg)
c.5672C>G (p.Pro1891Arg)
c.5741C>G (p.Pro1914Arg)
c.5369C>G (p.Pro1790Arg)
c.5525C>G (p.Pro1842Arg)
c.5732C>G (p.Pro1911Arg)
c.5033C>G (p.Pro1678Arg)
c.5780C>G (p.Pro1927Arg)
dbSNP
16g.3729261G>TCA394555513CREBBPc.5786C>A (p.Pro1929His)
c.5672C>A (p.Pro1891His)
c.5741C>A (p.Pro1914His)
c.5369C>A (p.Pro1790His)
c.5525C>A (p.Pro1842His)
c.5732C>A (p.Pro1911His)
c.5033C>A (p.Pro1678His)
c.5780C>A (p.Pro1927His)
ClinVar dbSNP
16g.3729262G>ACA394555516CREBBPc.5785C>T (p.Pro1929Ser)
c.5671C>T (p.Pro1891Ser)
c.5740C>T (p.Pro1914Ser)
c.5368C>T (p.Pro1790Ser)
c.5524C>T (p.Pro1842Ser)
c.5731C>T (p.Pro1911Ser)
c.5032C>T (p.Pro1678Ser)
c.5779C>T (p.Pro1927Ser)
gnomAD v4
16g.3729262G>CCA394555517CREBBPc.5785C>G (p.Pro1929Ala)
c.5671C>G (p.Pro1891Ala)
c.5740C>G (p.Pro1914Ala)
c.5368C>G (p.Pro1790Ala)
c.5524C>G (p.Pro1842Ala)
c.5731C>G (p.Pro1911Ala)
c.5032C>G (p.Pro1678Ala)
c.5779C>G (p.Pro1927Ala)
ClinVar dbSNP
16g.3729262G=CA2202916321CREBBPc.5785C= (p.Pro1929=)
c.5671C= (p.Pro1891=)
c.5740C= (p.Pro1914=)
c.5368C= (p.Pro1790=)
c.5524C= (p.Pro1842=)
c.5731C= (p.Pro1911=)
c.5032C= (p.Pro1678=)
c.5779C= (p.Pro1927=)
16g.3729262G>TCA394555519CREBBPc.5785C>A (p.Pro1929Thr)
c.5671C>A (p.Pro1891Thr)
c.5740C>A (p.Pro1914Thr)
c.5368C>A (p.Pro1790Thr)
c.5524C>A (p.Pro1842Thr)
c.5731C>A (p.Pro1911Thr)
c.5032C>A (p.Pro1678Thr)
c.5779C>A (p.Pro1927Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729263C>ACA394555521CREBBPc.5784G>T (p.Gln1928His)
c.5670G>T (p.Gln1890His)
c.5739G>T (p.Gln1913His)
c.5367G>T (p.Gln1789His)
c.5523G>T (p.Gln1841His)
c.5730G>T (p.Gln1910His)
c.5031G>T (p.Gln1677His)
c.5778G>T (p.Gln1926His)
dbSNP gnomAD v4
16g.3729263C>GCA394555523CREBBPc.5784G>C (p.Gln1928His)
c.5670G>C (p.Gln1890His)
c.5739G>C (p.Gln1913His)
c.5367G>C (p.Gln1789His)
c.5523G>C (p.Gln1841His)
c.5730G>C (p.Gln1910His)
c.5031G>C (p.Gln1677His)
c.5778G>C (p.Gln1926His)
dbSNP
16g.3729263C>TCA493394006CREBBPc.5784G>A (p.Gln1928=)
c.5670G>A (p.Gln1890=)
c.5739G>A (p.Gln1913=)
c.5367G>A (p.Gln1789=)
c.5523G>A (p.Gln1841=)
c.5730G>A (p.Gln1910=)
c.5031G>A (p.Gln1677=)
c.5778G>A (p.Gln1926=)
dbSNP gnomAD v4
16g.3729264T>ACA394555524CREBBPc.5783A>T (p.Gln1928Leu)
c.5669A>T (p.Gln1890Leu)
c.5738A>T (p.Gln1913Leu)
c.5366A>T (p.Gln1789Leu)
c.5522A>T (p.Gln1841Leu)
c.5729A>T (p.Gln1910Leu)
c.5030A>T (p.Gln1677Leu)
c.5777A>T (p.Gln1926Leu)
dbSNP
16g.3729264T>CCA394555525CREBBPc.5783A>G (p.Gln1928Arg)
c.5669A>G (p.Gln1890Arg)
c.5738A>G (p.Gln1913Arg)
c.5366A>G (p.Gln1789Arg)
c.5522A>G (p.Gln1841Arg)
c.5729A>G (p.Gln1910Arg)
c.5030A>G (p.Gln1677Arg)
c.5777A>G (p.Gln1926Arg)
dbSNP
16g.3729264T>GCA394555527CREBBPc.5783A>C (p.Gln1928Pro)
c.5669A>C (p.Gln1890Pro)
c.5738A>C (p.Gln1913Pro)
c.5366A>C (p.Gln1789Pro)
c.5522A>C (p.Gln1841Pro)
c.5729A>C (p.Gln1910Pro)
c.5030A>C (p.Gln1677Pro)
c.5777A>C (p.Gln1926Pro)
dbSNP
16g.3729265G>ACA394555530CREBBPc.5782C>T (p.Gln1928Ter)
c.5668C>T (p.Gln1890Ter)
c.5737C>T (p.Gln1913Ter)
c.5365C>T (p.Gln1789Ter)
c.5521C>T (p.Gln1841Ter)
c.5728C>T (p.Gln1910Ter)
c.5029C>T (p.Gln1677Ter)
c.5776C>T (p.Gln1926Ter)
ClinVar dbSNP
16g.3729265G>CCA394555531CREBBPc.5782C>G (p.Gln1928Glu)
c.5668C>G (p.Gln1890Glu)
c.5737C>G (p.Gln1913Glu)
c.5365C>G (p.Gln1789Glu)
c.5521C>G (p.Gln1841Glu)
c.5728C>G (p.Gln1910Glu)
c.5029C>G (p.Gln1677Glu)
c.5776C>G (p.Gln1926Glu)
dbSNP
16g.3729265G>TCA394555533CREBBPc.5782C>A (p.Gln1928Lys)
c.5668C>A (p.Gln1890Lys)
c.5737C>A (p.Gln1913Lys)
c.5365C>A (p.Gln1789Lys)
c.5521C>A (p.Gln1841Lys)
c.5728C>A (p.Gln1910Lys)
c.5029C>A (p.Gln1677Lys)
c.5776C>A (p.Gln1926Lys)
dbSNP gnomAD v4
16g.3729266A>CCA493394010CREBBPc.5781T>G (p.Thr1927=)
c.5667T>G (p.Thr1889=)
c.5736T>G (p.Thr1912=)
c.5364T>G (p.Thr1788=)
c.5520T>G (p.Thr1840=)
c.5727T>G (p.Thr1909=)
c.5028T>G (p.Thr1676=)
c.5775T>G (p.Thr1925=)
gnomAD v4
16g.3729266A>GCA493394011CREBBPc.5781T>C (p.Thr1927=)
c.5667T>C (p.Thr1889=)
c.5736T>C (p.Thr1912=)
c.5364T>C (p.Thr1788=)
c.5520T>C (p.Thr1840=)
c.5727T>C (p.Thr1909=)
c.5028T>C (p.Thr1676=)
c.5775T>C (p.Thr1925=)
dbSNP gnomAD v4
16g.3729266A>TCA493394012CREBBPc.5781T>A (p.Thr1927=)
c.5667T>A (p.Thr1889=)
c.5736T>A (p.Thr1912=)
c.5364T>A (p.Thr1788=)
c.5520T>A (p.Thr1840=)
c.5727T>A (p.Thr1909=)
c.5028T>A (p.Thr1676=)
c.5775T>A (p.Thr1925=)
dbSNP
16g.3729267G>ACA394555536CREBBPc.5780C>T (p.Thr1927Ile)
c.5666C>T (p.Thr1889Ile)
c.5735C>T (p.Thr1912Ile)
c.5363C>T (p.Thr1788Ile)
c.5519C>T (p.Thr1840Ile)
c.5726C>T (p.Thr1909Ile)
c.5027C>T (p.Thr1676Ile)
c.5774C>T (p.Thr1925Ile)
dbSNP
16g.3729267G>CCA394555537CREBBPc.5780C>G (p.Thr1927Ser)
c.5666C>G (p.Thr1889Ser)
c.5735C>G (p.Thr1912Ser)
c.5363C>G (p.Thr1788Ser)
c.5519C>G (p.Thr1840Ser)
c.5726C>G (p.Thr1909Ser)
c.5027C>G (p.Thr1676Ser)
c.5774C>G (p.Thr1925Ser)
dbSNP
16g.3729267G>TCA394555539CREBBPc.5780C>A (p.Thr1927Asn)
c.5666C>A (p.Thr1889Asn)
c.5735C>A (p.Thr1912Asn)
c.5363C>A (p.Thr1788Asn)
c.5519C>A (p.Thr1840Asn)
c.5726C>A (p.Thr1909Asn)
c.5027C>A (p.Thr1676Asn)
c.5774C>A (p.Thr1925Asn)
gnomAD v4
16g.3729268T>ACA394555541CREBBPc.5779A>T (p.Thr1927Ser)
c.5665A>T (p.Thr1889Ser)
c.5734A>T (p.Thr1912Ser)
c.5362A>T (p.Thr1788Ser)
c.5518A>T (p.Thr1840Ser)
c.5725A>T (p.Thr1909Ser)
c.5026A>T (p.Thr1676Ser)
c.5773A>T (p.Thr1925Ser)
dbSNP
16g.3729268T>CCA394555543CREBBPc.5779A>G (p.Thr1927Ala)
c.5665A>G (p.Thr1889Ala)
c.5734A>G (p.Thr1912Ala)
c.5362A>G (p.Thr1788Ala)
c.5518A>G (p.Thr1840Ala)
c.5725A>G (p.Thr1909Ala)
c.5026A>G (p.Thr1676Ala)
c.5773A>G (p.Thr1925Ala)
dbSNP
16g.3729268T>GCA394555545CREBBPc.5779A>C (p.Thr1927Pro)
c.5665A>C (p.Thr1889Pro)
c.5734A>C (p.Thr1912Pro)
c.5362A>C (p.Thr1788Pro)
c.5518A>C (p.Thr1840Pro)
c.5725A>C (p.Thr1909Pro)
c.5026A>C (p.Thr1676Pro)
c.5773A>C (p.Thr1925Pro)
dbSNP
16g.3729269C>ACA493394013CREBBPc.5778G>T (p.Arg1926=)
c.5664G>T (p.Arg1888=)
c.5733G>T (p.Arg1911=)
c.5361G>T (p.Arg1787=)
c.5517G>T (p.Arg1839=)
c.5724G>T (p.Arg1908=)
c.5025G>T (p.Arg1675=)
c.5772G>T (p.Arg1924=)
dbSNP
16g.3729269C>GCA493394014CREBBPc.5778G>C (p.Arg1926=)
c.5664G>C (p.Arg1888=)
c.5733G>C (p.Arg1911=)
c.5361G>C (p.Arg1787=)
c.5517G>C (p.Arg1839=)
c.5724G>C (p.Arg1908=)
c.5025G>C (p.Arg1675=)
c.5772G>C (p.Arg1924=)
dbSNP
16g.3729269C>TCA493394015CREBBPc.5778G>A (p.Arg1926=)
c.5664G>A (p.Arg1888=)
c.5733G>A (p.Arg1911=)
c.5361G>A (p.Arg1787=)
c.5517G>A (p.Arg1839=)
c.5724G>A (p.Arg1908=)
c.5025G>A (p.Arg1675=)
c.5772G>A (p.Arg1924=)
dbSNP
16g.3729270C>ACA394555554CREBBPc.5777G>T (p.Arg1926Leu)
c.5663G>T (p.Arg1888Leu)
c.5732G>T (p.Arg1911Leu)
c.5360G>T (p.Arg1787Leu)
c.5516G>T (p.Arg1839Leu)
c.5723G>T (p.Arg1908Leu)
c.5024G>T (p.Arg1675Leu)
c.5771G>T (p.Arg1924Leu)
dbSNP gnomAD v2 gnomAD v4
16g.3729270C=CA2202916322CREBBPc.5777G= (p.Arg1926=)
c.5663G= (p.Arg1888=)
c.5732G= (p.Arg1911=)
c.5360G= (p.Arg1787=)
c.5516G= (p.Arg1839=)
c.5723G= (p.Arg1908=)
c.5024G= (p.Arg1675=)
c.5771G= (p.Arg1924=)
16g.3729270C>GCA394555552CREBBPc.5777G>C (p.Arg1926Pro)
c.5663G>C (p.Arg1888Pro)
c.5732G>C (p.Arg1911Pro)
c.5360G>C (p.Arg1787Pro)
c.5516G>C (p.Arg1839Pro)
c.5723G>C (p.Arg1908Pro)
c.5024G>C (p.Arg1675Pro)
c.5771G>C (p.Arg1924Pro)
dbSNP gnomAD v4
16g.3729270C>TCA394555548CREBBPc.5777G>A (p.Arg1926Gln)
c.5663G>A (p.Arg1888Gln)
c.5732G>A (p.Arg1911Gln)
c.5360G>A (p.Arg1787Gln)
c.5516G>A (p.Arg1839Gln)
c.5723G>A (p.Arg1908Gln)
c.5024G>A (p.Arg1675Gln)
c.5771G>A (p.Arg1924Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729271G>ACA394555556CREBBPc.5776C>T (p.Arg1926Trp)
c.5662C>T (p.Arg1888Trp)
c.5731C>T (p.Arg1911Trp)
c.5359C>T (p.Arg1787Trp)
c.5515C>T (p.Arg1839Trp)
c.5722C>T (p.Arg1908Trp)
c.5023C>T (p.Arg1675Trp)
c.5770C>T (p.Arg1924Trp)
dbSNP gnomAD v4
16g.3729271G>CCA7869247CREBBPc.5776C>G (p.Arg1926Gly)
c.5662C>G (p.Arg1888Gly)
c.5731C>G (p.Arg1911Gly)
c.5359C>G (p.Arg1787Gly)
c.5515C>G (p.Arg1839Gly)
c.5722C>G (p.Arg1908Gly)
c.5023C>G (p.Arg1675Gly)
c.5770C>G (p.Arg1924Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729271G=CA2202916323CREBBPc.5776C= (p.Arg1926=)
c.5662C= (p.Arg1888=)
c.5731C= (p.Arg1911=)
c.5359C= (p.Arg1787=)
c.5515C= (p.Arg1839=)
c.5722C= (p.Arg1908=)
c.5023C= (p.Arg1675=)
c.5770C= (p.Arg1924=)
16g.3729271G>TCA493394017CREBBPc.5776C>A (p.Arg1926=)
c.5662C>A (p.Arg1888=)
c.5731C>A (p.Arg1911=)
c.5359C>A (p.Arg1787=)
c.5515C>A (p.Arg1839=)
c.5722C>A (p.Arg1908=)
c.5023C>A (p.Arg1675=)
c.5770C>A (p.Arg1924=)
dbSNP gnomAD v4
16g.3729272G>ACA493394018CREBBPc.5775C>T (p.Ala1925=)
c.5661C>T (p.Ala1887=)
c.5730C>T (p.Ala1910=)
c.5358C>T (p.Ala1786=)
c.5514C>T (p.Ala1838=)
c.5721C>T (p.Ala1907=)
c.5022C>T (p.Ala1674=)
c.5769C>T (p.Ala1923=)
dbSNP
16g.3729272G>CCA493394019CREBBPc.5775C>G (p.Ala1925=)
c.5661C>G (p.Ala1887=)
c.5730C>G (p.Ala1910=)
c.5358C>G (p.Ala1786=)
c.5514C>G (p.Ala1838=)
c.5721C>G (p.Ala1907=)
c.5022C>G (p.Ala1674=)
c.5769C>G (p.Ala1923=)
dbSNP
16g.3729272G>TCA493394020CREBBPc.5775C>A (p.Ala1925=)
c.5661C>A (p.Ala1887=)
c.5730C>A (p.Ala1910=)
c.5358C>A (p.Ala1786=)
c.5514C>A (p.Ala1838=)
c.5721C>A (p.Ala1907=)
c.5022C>A (p.Ala1674=)
c.5769C>A (p.Ala1923=)
dbSNP gnomAD v4
16g.3729273G>ACA394555560CREBBPc.5774C>T (p.Ala1925Val)
c.5660C>T (p.Ala1887Val)
c.5729C>T (p.Ala1910Val)
c.5357C>T (p.Ala1786Val)
c.5513C>T (p.Ala1838Val)
c.5720C>T (p.Ala1907Val)
c.5021C>T (p.Ala1674Val)
c.5768C>T (p.Ala1923Val)
dbSNP gnomAD v4
16g.3729273G>CCA394555561CREBBPc.5774C>G (p.Ala1925Gly)
c.5660C>G (p.Ala1887Gly)
c.5729C>G (p.Ala1910Gly)
c.5357C>G (p.Ala1786Gly)
c.5513C>G (p.Ala1838Gly)
c.5720C>G (p.Ala1907Gly)
c.5021C>G (p.Ala1674Gly)
c.5768C>G (p.Ala1923Gly)
dbSNP
16g.3729273G=CA2202916324CREBBPc.5774C= (p.Ala1925=)
c.5660C= (p.Ala1887=)
c.5729C= (p.Ala1910=)
c.5357C= (p.Ala1786=)
c.5513C= (p.Ala1838=)
c.5720C= (p.Ala1907=)
c.5021C= (p.Ala1674=)
c.5768C= (p.Ala1923=)
16g.3729273G>TCA394555563CREBBPc.5774C>A (p.Ala1925Asp)
c.5660C>A (p.Ala1887Asp)
c.5729C>A (p.Ala1910Asp)
c.5357C>A (p.Ala1786Asp)
c.5513C>A (p.Ala1838Asp)
c.5720C>A (p.Ala1907Asp)
c.5021C>A (p.Ala1674Asp)
c.5768C>A (p.Ala1923Asp)
dbSNP gnomAD v4
16g.3729274C>ACA394555564CREBBPc.5773G>T (p.Ala1925Ser)
c.5659G>T (p.Ala1887Ser)
c.5728G>T (p.Ala1910Ser)
c.5356G>T (p.Ala1786Ser)
c.5512G>T (p.Ala1838Ser)
c.5719G>T (p.Ala1907Ser)
c.5020G>T (p.Ala1674Ser)
c.5767G>T (p.Ala1923Ser)
dbSNP gnomAD v4
16g.3729274C=CA2202916325CREBBPc.5773G= (p.Ala1925=)
c.5659G= (p.Ala1887=)
c.5728G= (p.Ala1910=)
c.5356G= (p.Ala1786=)
c.5512G= (p.Ala1838=)
c.5719G= (p.Ala1907=)
c.5020G= (p.Ala1674=)
c.5767G= (p.Ala1923=)
16g.3729274C>GCA394555565CREBBPc.5773G>C (p.Ala1925Pro)
c.5659G>C (p.Ala1887Pro)
c.5728G>C (p.Ala1910Pro)
c.5356G>C (p.Ala1786Pro)
c.5512G>C (p.Ala1838Pro)
c.5719G>C (p.Ala1907Pro)
c.5020G>C (p.Ala1674Pro)
c.5767G>C (p.Ala1923Pro)
16g.3729274C>TCA276972066CREBBPc.5773G>A (p.Ala1925Thr)
c.5659G>A (p.Ala1887Thr)
c.5728G>A (p.Ala1910Thr)
c.5356G>A (p.Ala1786Thr)
c.5512G>A (p.Ala1838Thr)
c.5719G>A (p.Ala1907Thr)
c.5020G>A (p.Ala1674Thr)
c.5767G>A (p.Ala1923Thr)
dbSNP gnomAD v4
16g.3729275C>ACA493394021CREBBPc.5772G>T (p.Val1924=)
c.5658G>T (p.Val1886=)
c.5727G>T (p.Val1909=)
c.5355G>T (p.Val1785=)
c.5511G>T (p.Val1837=)
c.5718G>T (p.Val1906=)
c.5019G>T (p.Val1673=)
c.5766G>T (p.Val1922=)
dbSNP gnomAD v4
16g.3729275C=CA2202916326CREBBPc.5772G= (p.Val1924=)
c.5658G= (p.Val1886=)
c.5727G= (p.Val1909=)
c.5355G= (p.Val1785=)
c.5511G= (p.Val1837=)
c.5718G= (p.Val1906=)
c.5019G= (p.Val1673=)
c.5766G= (p.Val1922=)
16g.3729275C>GCA493394022CREBBPc.5772G>C (p.Val1924=)
c.5658G>C (p.Val1886=)
c.5727G>C (p.Val1909=)
c.5355G>C (p.Val1785=)
c.5511G>C (p.Val1837=)
c.5718G>C (p.Val1906=)
c.5019G>C (p.Val1673=)
c.5766G>C (p.Val1922=)
16g.3729275C>TCA493394024CREBBPc.5772G>A (p.Val1924=)
c.5658G>A (p.Val1886=)
c.5727G>A (p.Val1909=)
c.5355G>A (p.Val1785=)
c.5511G>A (p.Val1837=)
c.5718G>A (p.Val1906=)
c.5019G>A (p.Val1673=)
c.5766G>A (p.Val1922=)
dbSNP gnomAD v2 gnomAD v4
16g.3729276A=CA2202916327CREBBPc.5771T= (p.Val1924=)
c.5657T= (p.Val1886=)
c.5726T= (p.Val1909=)
c.5354T= (p.Val1785=)
c.5510T= (p.Val1837=)
c.5717T= (p.Val1906=)
c.5018T= (p.Val1673=)
c.5765T= (p.Val1922=)
16g.3729276A>CCA394555566CREBBPc.5771T>G (p.Val1924Gly)
c.5657T>G (p.Val1886Gly)
c.5726T>G (p.Val1909Gly)
c.5354T>G (p.Val1785Gly)
c.5510T>G (p.Val1837Gly)
c.5717T>G (p.Val1906Gly)
c.5018T>G (p.Val1673Gly)
c.5765T>G (p.Val1922Gly)
dbSNP
16g.3729276A>GCA394555567CREBBPc.5771T>C (p.Val1924Ala)
c.5657T>C (p.Val1886Ala)
c.5726T>C (p.Val1909Ala)
c.5354T>C (p.Val1785Ala)
c.5510T>C (p.Val1837Ala)
c.5717T>C (p.Val1906Ala)
c.5018T>C (p.Val1673Ala)
c.5765T>C (p.Val1922Ala)
dbSNP gnomAD v3 gnomAD v4
16g.3729276A>TCA394555568CREBBPc.5771T>A (p.Val1924Glu)
c.5657T>A (p.Val1886Glu)
c.5726T>A (p.Val1909Glu)
c.5354T>A (p.Val1785Glu)
c.5510T>A (p.Val1837Glu)
c.5717T>A (p.Val1906Glu)
c.5018T>A (p.Val1673Glu)
c.5765T>A (p.Val1922Glu)
dbSNP
16g.3729277C>ACA394555569CREBBPc.5770G>T (p.Val1924Leu)
c.5656G>T (p.Val1886Leu)
c.5725G>T (p.Val1909Leu)
c.5353G>T (p.Val1785Leu)
c.5509G>T (p.Val1837Leu)
c.5716G>T (p.Val1906Leu)
c.5017G>T (p.Val1673Leu)
c.5764G>T (p.Val1922Leu)
dbSNP
16g.3729277C=CA2202916328CREBBPc.5770G= (p.Val1924=)
c.5656G= (p.Val1886=)
c.5725G= (p.Val1909=)
c.5353G= (p.Val1785=)
c.5509G= (p.Val1837=)
c.5716G= (p.Val1906=)
c.5017G= (p.Val1673=)
c.5764G= (p.Val1922=)
16g.3729277C>GCA394555570CREBBPc.5770G>C (p.Val1924Leu)
c.5656G>C (p.Val1886Leu)
c.5725G>C (p.Val1909Leu)
c.5353G>C (p.Val1785Leu)
c.5509G>C (p.Val1837Leu)
c.5716G>C (p.Val1906Leu)
c.5017G>C (p.Val1673Leu)
c.5764G>C (p.Val1922Leu)
dbSNP gnomAD v4
16g.3729277C>TCA158197CREBBPc.5770G>A (p.Val1924Met)
c.5656G>A (p.Val1886Met)
c.5725G>A (p.Val1909Met)
c.5353G>A (p.Val1785Met)
c.5509G>A (p.Val1837Met)
c.5716G>A (p.Val1906Met)
c.5017G>A (p.Val1673Met)
c.5764G>A (p.Val1922Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729278G>ACA7869248CREBBPc.5769C>T (p.Ser1923=)
c.5655C>T (p.Ser1885=)
c.5724C>T (p.Ser1908=)
c.5352C>T (p.Ser1784=)
c.5508C>T (p.Ser1836=)
c.5715C>T (p.Ser1905=)
c.5016C>T (p.Ser1672=)
c.5763C>T (p.Ser1921=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729278G>CCA394555571CREBBPc.5769C>G (p.Ser1923Arg)
c.5655C>G (p.Ser1885Arg)
c.5724C>G (p.Ser1908Arg)
c.5352C>G (p.Ser1784Arg)
c.5508C>G (p.Ser1836Arg)
c.5715C>G (p.Ser1905Arg)
c.5016C>G (p.Ser1672Arg)
c.5763C>G (p.Ser1921Arg)
dbSNP gnomAD v4
16g.3729278G=CA2202916329CREBBPc.5769C= (p.Ser1923=)
c.5655C= (p.Ser1885=)
c.5724C= (p.Ser1908=)
c.5352C= (p.Ser1784=)
c.5508C= (p.Ser1836=)
c.5715C= (p.Ser1905=)
c.5016C= (p.Ser1672=)
c.5763C= (p.Ser1921=)
16g.3729278G>TCA394555572CREBBPc.5769C>A (p.Ser1923Arg)
c.5655C>A (p.Ser1885Arg)
c.5724C>A (p.Ser1908Arg)
c.5352C>A (p.Ser1784Arg)
c.5508C>A (p.Ser1836Arg)
c.5715C>A (p.Ser1905Arg)
c.5016C>A (p.Ser1672Arg)
c.5763C>A (p.Ser1921Arg)
dbSNP gnomAD v4
16g.3729279C>ACA394555573CREBBPc.5768G>T (p.Ser1923Ile)
c.5654G>T (p.Ser1885Ile)
c.5723G>T (p.Ser1908Ile)
c.5351G>T (p.Ser1784Ile)
c.5507G>T (p.Ser1836Ile)
c.5714G>T (p.Ser1905Ile)
c.5015G>T (p.Ser1672Ile)
c.5762G>T (p.Ser1921Ile)
dbSNP gnomAD v4
16g.3729279C>GCA394555574CREBBPc.5768G>C (p.Ser1923Thr)
c.5654G>C (p.Ser1885Thr)
c.5723G>C (p.Ser1908Thr)
c.5351G>C (p.Ser1784Thr)
c.5507G>C (p.Ser1836Thr)
c.5714G>C (p.Ser1905Thr)
c.5015G>C (p.Ser1672Thr)
c.5762G>C (p.Ser1921Thr)
dbSNP
16g.3729279C>TCA394555575CREBBPc.5768G>A (p.Ser1923Asn)
c.5654G>A (p.Ser1885Asn)
c.5723G>A (p.Ser1908Asn)
c.5351G>A (p.Ser1784Asn)
c.5507G>A (p.Ser1836Asn)
c.5714G>A (p.Ser1905Asn)
c.5015G>A (p.Ser1672Asn)
c.5762G>A (p.Ser1921Asn)
dbSNP gnomAD v4
16g.3729280T>ACA394555576CREBBPc.5767A>T (p.Ser1923Cys)
c.5653A>T (p.Ser1885Cys)
c.5722A>T (p.Ser1908Cys)
c.5350A>T (p.Ser1784Cys)
c.5506A>T (p.Ser1836Cys)
c.5713A>T (p.Ser1905Cys)
c.5014A>T (p.Ser1672Cys)
c.5761A>T (p.Ser1921Cys)
16g.3729280T>CCA394555577CREBBPc.5767A>G (p.Ser1923Gly)
c.5653A>G (p.Ser1885Gly)
c.5722A>G (p.Ser1908Gly)
c.5350A>G (p.Ser1784Gly)
c.5506A>G (p.Ser1836Gly)
c.5713A>G (p.Ser1905Gly)
c.5014A>G (p.Ser1672Gly)
c.5761A>G (p.Ser1921Gly)
gnomAD v4
16g.3729280T>GCA394555578CREBBPc.5767A>C (p.Ser1923Arg)
c.5653A>C (p.Ser1885Arg)
c.5722A>C (p.Ser1908Arg)
c.5350A>C (p.Ser1784Arg)
c.5506A>C (p.Ser1836Arg)
c.5713A>C (p.Ser1905Arg)
c.5014A>C (p.Ser1672Arg)
c.5761A>C (p.Ser1921Arg)
16g.3729281G>ACA493394030CREBBPc.5766C>T (p.Pro1922=)
c.5652C>T (p.Pro1884=)
c.5721C>T (p.Pro1907=)
c.5349C>T (p.Pro1783=)
c.5505C>T (p.Pro1835=)
c.5712C>T (p.Pro1904=)
c.5013C>T (p.Pro1671=)
c.5760C>T (p.Pro1920=)
dbSNP gnomAD v2 gnomAD v4
16g.3729281G>CCA493394029CREBBPc.5766C>G (p.Pro1922=)
c.5652C>G (p.Pro1884=)
c.5721C>G (p.Pro1907=)
c.5349C>G (p.Pro1783=)
c.5505C>G (p.Pro1835=)
c.5712C>G (p.Pro1904=)
c.5013C>G (p.Pro1671=)
c.5760C>G (p.Pro1920=)
dbSNP
16g.3729281G=CA2202916330CREBBPc.5766C= (p.Pro1922=)
c.5652C= (p.Pro1884=)
c.5721C= (p.Pro1907=)
c.5349C= (p.Pro1783=)
c.5505C= (p.Pro1835=)
c.5712C= (p.Pro1904=)
c.5013C= (p.Pro1671=)
c.5760C= (p.Pro1920=)
16g.3729281G>TCA493394028CREBBPc.5766C>A (p.Pro1922=)
c.5652C>A (p.Pro1884=)
c.5721C>A (p.Pro1907=)
c.5349C>A (p.Pro1783=)
c.5505C>A (p.Pro1835=)
c.5712C>A (p.Pro1904=)
c.5013C>A (p.Pro1671=)
c.5760C>A (p.Pro1920=)
16g.3729284delCA2631403629CREBBPc.5766del (p.Ser1923AlafsTer?)
c.5652del (p.Ser1885AlafsTer?)
c.5721del (p.Ser1908AlafsTer?)
c.5349del (p.Ser1784AlafsTer?)
c.5505del (p.Ser1836AlafsTer?)
c.5712del (p.Ser1905AlafsTer?)
c.5013del (p.Ser1672AlafsTer?)
c.5760del (p.Ser1921AlafsTer?)
gnomAD v4
16g.3729282G>ACA394555579CREBBPc.5765C>T (p.Pro1922Leu)
c.5651C>T (p.Pro1884Leu)
c.5720C>T (p.Pro1907Leu)
c.5348C>T (p.Pro1783Leu)
c.5504C>T (p.Pro1835Leu)
c.5711C>T (p.Pro1904Leu)
c.5012C>T (p.Pro1671Leu)
c.5759C>T (p.Pro1920Leu)
dbSNP
16g.3729282G>CCA394555580CREBBPc.5765C>G (p.Pro1922Arg)
c.5651C>G (p.Pro1884Arg)
c.5720C>G (p.Pro1907Arg)
c.5348C>G (p.Pro1783Arg)
c.5504C>G (p.Pro1835Arg)
c.5711C>G (p.Pro1904Arg)
c.5012C>G (p.Pro1671Arg)
c.5759C>G (p.Pro1920Arg)
dbSNP
16g.3729282G>TCA394555581CREBBPc.5765C>A (p.Pro1922His)
c.5651C>A (p.Pro1884His)
c.5720C>A (p.Pro1907His)
c.5348C>A (p.Pro1783His)
c.5504C>A (p.Pro1835His)
c.5711C>A (p.Pro1904His)
c.5012C>A (p.Pro1671His)
c.5759C>A (p.Pro1920His)
dbSNP
16g.3729283G>ACA394555582CREBBPc.5764C>T (p.Pro1922Ser)
c.5650C>T (p.Pro1884Ser)
c.5719C>T (p.Pro1907Ser)
c.5347C>T (p.Pro1783Ser)
c.5503C>T (p.Pro1835Ser)
c.5710C>T (p.Pro1904Ser)
c.5011C>T (p.Pro1671Ser)
c.5758C>T (p.Pro1920Ser)
gnomAD v4
16g.3729283G>CCA276972073CREBBPc.5764C>G (p.Pro1922Ala)
c.5650C>G (p.Pro1884Ala)
c.5719C>G (p.Pro1907Ala)
c.5347C>G (p.Pro1783Ala)
c.5503C>G (p.Pro1835Ala)
c.5710C>G (p.Pro1904Ala)
c.5011C>G (p.Pro1671Ala)
c.5758C>G (p.Pro1920Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729283G=CA2202916331CREBBPc.5764C= (p.Pro1922=)
c.5650C= (p.Pro1884=)
c.5719C= (p.Pro1907=)
c.5347C= (p.Pro1783=)
c.5503C= (p.Pro1835=)
c.5710C= (p.Pro1904=)
c.5011C= (p.Pro1671=)
c.5758C= (p.Pro1920=)
16g.3729283G>TCA394555583CREBBPc.5764C>A (p.Pro1922Thr)
c.5650C>A (p.Pro1884Thr)
c.5719C>A (p.Pro1907Thr)
c.5347C>A (p.Pro1783Thr)
c.5503C>A (p.Pro1835Thr)
c.5710C>A (p.Pro1904Thr)
c.5011C>A (p.Pro1671Thr)
c.5758C>A (p.Pro1920Thr)
16g.3729284G>ACA493394032CREBBPc.5763C>T (p.Phe1921=)
c.5649C>T (p.Phe1883=)
c.5718C>T (p.Phe1906=)
c.5346C>T (p.Phe1782=)
c.5502C>T (p.Phe1834=)
c.5709C>T (p.Phe1903=)
c.5010C>T (p.Phe1670=)
c.5757C>T (p.Phe1919=)
dbSNP
16g.3729284G>CCA394555584CREBBPc.5763C>G (p.Phe1921Leu)
c.5649C>G (p.Phe1883Leu)
c.5718C>G (p.Phe1906Leu)
c.5346C>G (p.Phe1782Leu)
c.5502C>G (p.Phe1834Leu)
c.5709C>G (p.Phe1903Leu)
c.5010C>G (p.Phe1670Leu)
c.5757C>G (p.Phe1919Leu)
ClinVar dbSNP
16g.3729284G=CA2202916332CREBBPc.5763C= (p.Phe1921=)
c.5649C= (p.Phe1883=)
c.5718C= (p.Phe1906=)
c.5346C= (p.Phe1782=)
c.5502C= (p.Phe1834=)
c.5709C= (p.Phe1903=)
c.5010C= (p.Phe1670=)
c.5757C= (p.Phe1919=)
16g.3729284G>TCA394555585CREBBPc.5763C>A (p.Phe1921Leu)
c.5649C>A (p.Phe1883Leu)
c.5718C>A (p.Phe1906Leu)
c.5346C>A (p.Phe1782Leu)
c.5502C>A (p.Phe1834Leu)
c.5709C>A (p.Phe1903Leu)
c.5010C>A (p.Phe1670Leu)
c.5757C>A (p.Phe1919Leu)
dbSNP gnomAD v4
16g.3729285A>CCA394555586CREBBPc.5762T>G (p.Phe1921Cys)
c.5648T>G (p.Phe1883Cys)
c.5717T>G (p.Phe1906Cys)
c.5345T>G (p.Phe1782Cys)
c.5501T>G (p.Phe1834Cys)
c.5708T>G (p.Phe1903Cys)
c.5009T>G (p.Phe1670Cys)
c.5756T>G (p.Phe1919Cys)
16g.3729285A>GCA394555587CREBBPc.5762T>C (p.Phe1921Ser)
c.5648T>C (p.Phe1883Ser)
c.5717T>C (p.Phe1906Ser)
c.5345T>C (p.Phe1782Ser)
c.5501T>C (p.Phe1834Ser)
c.5708T>C (p.Phe1903Ser)
c.5009T>C (p.Phe1670Ser)
c.5756T>C (p.Phe1919Ser)
dbSNP
16g.3729285A>TCA394555588CREBBPc.5762T>A (p.Phe1921Tyr)
c.5648T>A (p.Phe1883Tyr)
c.5717T>A (p.Phe1906Tyr)
c.5345T>A (p.Phe1782Tyr)
c.5501T>A (p.Phe1834Tyr)
c.5708T>A (p.Phe1903Tyr)
c.5009T>A (p.Phe1670Tyr)
c.5756T>A (p.Phe1919Tyr)
dbSNP
16g.3729286A=CA2202916333CREBBPc.5761T= (p.Phe1921=)
c.5647T= (p.Phe1883=)
c.5716T= (p.Phe1906=)
c.5344T= (p.Phe1782=)
c.5500T= (p.Phe1834=)
c.5707T= (p.Phe1903=)
c.5008T= (p.Phe1670=)
c.5755T= (p.Phe1919=)
16g.3729286A>CCA394555589CREBBPc.5761T>G (p.Phe1921Val)
c.5647T>G (p.Phe1883Val)
c.5716T>G (p.Phe1906Val)
c.5344T>G (p.Phe1782Val)
c.5500T>G (p.Phe1834Val)
c.5707T>G (p.Phe1903Val)
c.5008T>G (p.Phe1670Val)
c.5755T>G (p.Phe1919Val)
16g.3729286A>GCA276972076CREBBPc.5761T>C (p.Phe1921Leu)
c.5647T>C (p.Phe1883Leu)
c.5716T>C (p.Phe1906Leu)
c.5344T>C (p.Phe1782Leu)
c.5500T>C (p.Phe1834Leu)
c.5707T>C (p.Phe1903Leu)
c.5008T>C (p.Phe1670Leu)
c.5755T>C (p.Phe1919Leu)
dbSNP gnomAD v4
16g.3729286A>TCA394555590CREBBPc.5761T>A (p.Phe1921Ile)
c.5647T>A (p.Phe1883Ile)
c.5716T>A (p.Phe1906Ile)
c.5344T>A (p.Phe1782Ile)
c.5500T>A (p.Phe1834Ile)
c.5707T>A (p.Phe1903Ile)
c.5008T>A (p.Phe1670Ile)
c.5755T>A (p.Phe1919Ile)
dbSNP
16g.3729287G>ACA493394035CREBBPc.5760C>T (p.Gly1920=)
c.5646C>T (p.Gly1882=)
c.5715C>T (p.Gly1905=)
c.5343C>T (p.Gly1781=)
c.5499C>T (p.Gly1833=)
c.5706C>T (p.Gly1902=)
c.5007C>T (p.Gly1669=)
c.5754C>T (p.Gly1918=)
dbSNP gnomAD v3 gnomAD v4
16g.3729287G>CCA493394036CREBBPc.5760C>G (p.Gly1920=)
c.5646C>G (p.Gly1882=)
c.5715C>G (p.Gly1905=)
c.5343C>G (p.Gly1781=)
c.5499C>G (p.Gly1833=)
c.5706C>G (p.Gly1902=)
c.5007C>G (p.Gly1669=)
c.5754C>G (p.Gly1918=)
16g.3729287G=CA2202916334CREBBPc.5760C= (p.Gly1920=)
c.5646C= (p.Gly1882=)
c.5715C= (p.Gly1905=)
c.5343C= (p.Gly1781=)
c.5499C= (p.Gly1833=)
c.5706C= (p.Gly1902=)
c.5007C= (p.Gly1669=)
c.5754C= (p.Gly1918=)
16g.3729287G>TCA493394037CREBBPc.5760C>A (p.Gly1920=)
c.5646C>A (p.Gly1882=)
c.5715C>A (p.Gly1905=)
c.5343C>A (p.Gly1781=)
c.5499C>A (p.Gly1833=)
c.5706C>A (p.Gly1902=)
c.5007C>A (p.Gly1669=)
c.5754C>A (p.Gly1918=)
gnomAD v4
16g.3729288C>ACA394555591CREBBPc.5759G>T (p.Gly1920Val)
c.5645G>T (p.Gly1882Val)
c.5714G>T (p.Gly1905Val)
c.5342G>T (p.Gly1781Val)
c.5498G>T (p.Gly1833Val)
c.5705G>T (p.Gly1902Val)
c.5006G>T (p.Gly1669Val)
c.5753G>T (p.Gly1918Val)
dbSNP gnomAD v4
16g.3729288C>GCA394555592CREBBPc.5759G>C (p.Gly1920Ala)
c.5645G>C (p.Gly1882Ala)
c.5714G>C (p.Gly1905Ala)
c.5342G>C (p.Gly1781Ala)
c.5498G>C (p.Gly1833Ala)
c.5705G>C (p.Gly1902Ala)
c.5006G>C (p.Gly1669Ala)
c.5753G>C (p.Gly1918Ala)
dbSNP
16g.3729288C>TCA394555593CREBBPc.5759G>A (p.Gly1920Asp)
c.5645G>A (p.Gly1882Asp)
c.5714G>A (p.Gly1905Asp)
c.5342G>A (p.Gly1781Asp)
c.5498G>A (p.Gly1833Asp)
c.5705G>A (p.Gly1902Asp)
c.5006G>A (p.Gly1669Asp)
c.5753G>A (p.Gly1918Asp)
dbSNP gnomAD v4
16g.3729289C>ACA394555594CREBBPc.5758G>T (p.Gly1920Cys)
c.5644G>T (p.Gly1882Cys)
c.5713G>T (p.Gly1905Cys)
c.5341G>T (p.Gly1781Cys)
c.5497G>T (p.Gly1833Cys)
c.5704G>T (p.Gly1902Cys)
c.5005G>T (p.Gly1669Cys)
c.5752G>T (p.Gly1918Cys)
gnomAD v4
16g.3729289C>GCA394555595CREBBPc.5758G>C (p.Gly1920Arg)
c.5644G>C (p.Gly1882Arg)
c.5713G>C (p.Gly1905Arg)
c.5341G>C (p.Gly1781Arg)
c.5497G>C (p.Gly1833Arg)
c.5704G>C (p.Gly1902Arg)
c.5005G>C (p.Gly1669Arg)
c.5752G>C (p.Gly1918Arg)
dbSNP
16g.3729289C>TCA394555596CREBBPc.5758G>A (p.Gly1920Ser)
c.5644G>A (p.Gly1882Ser)
c.5713G>A (p.Gly1905Ser)
c.5341G>A (p.Gly1781Ser)
c.5497G>A (p.Gly1833Ser)
c.5704G>A (p.Gly1902Ser)
c.5005G>A (p.Gly1669Ser)
c.5752G>A (p.Gly1918Ser)
dbSNP
16g.3729290A=CA2202916335CREBBPc.5757T= (p.Ala1919=)
c.5643T= (p.Ala1881=)
c.5712T= (p.Ala1904=)
c.5340T= (p.Ala1780=)
c.5496T= (p.Ala1832=)
c.5703T= (p.Ala1901=)
c.5004T= (p.Ala1668=)
c.5751T= (p.Ala1917=)
16g.3729290A>CCA493394038CREBBPc.5757T>G (p.Ala1919=)
c.5643T>G (p.Ala1881=)
c.5712T>G (p.Ala1904=)
c.5340T>G (p.Ala1780=)
c.5496T>G (p.Ala1832=)
c.5703T>G (p.Ala1901=)
c.5004T>G (p.Ala1668=)
c.5751T>G (p.Ala1917=)
16g.3729290A>GCA493394039CREBBPc.5757T>C (p.Ala1919=)
c.5643T>C (p.Ala1881=)
c.5712T>C (p.Ala1904=)
c.5340T>C (p.Ala1780=)
c.5496T>C (p.Ala1832=)
c.5703T>C (p.Ala1901=)
c.5004T>C (p.Ala1668=)
c.5751T>C (p.Ala1917=)
dbSNP gnomAD v2 gnomAD v4
16g.3729290A>TCA493394040CREBBPc.5757T>A (p.Ala1919=)
c.5643T>A (p.Ala1881=)
c.5712T>A (p.Ala1904=)
c.5340T>A (p.Ala1780=)
c.5496T>A (p.Ala1832=)
c.5703T>A (p.Ala1901=)
c.5004T>A (p.Ala1668=)
c.5751T>A (p.Ala1917=)
dbSNP
16g.3729291G>ACA394555599CREBBPc.5756C>T (p.Ala1919Val)
c.5642C>T (p.Ala1881Val)
c.5711C>T (p.Ala1904Val)
c.5339C>T (p.Ala1780Val)
c.5495C>T (p.Ala1832Val)
c.5702C>T (p.Ala1901Val)
c.5003C>T (p.Ala1668Val)
c.5750C>T (p.Ala1917Val)
dbSNP
16g.3729291G>CCA394555597CREBBPc.5756C>G (p.Ala1919Gly)
c.5642C>G (p.Ala1881Gly)
c.5711C>G (p.Ala1904Gly)
c.5339C>G (p.Ala1780Gly)
c.5495C>G (p.Ala1832Gly)
c.5702C>G (p.Ala1901Gly)
c.5003C>G (p.Ala1668Gly)
c.5750C>G (p.Ala1917Gly)
dbSNP
16g.3729291G>TCA394555598CREBBPc.5756C>A (p.Ala1919Asp)
c.5642C>A (p.Ala1881Asp)
c.5711C>A (p.Ala1904Asp)
c.5339C>A (p.Ala1780Asp)
c.5495C>A (p.Ala1832Asp)
c.5702C>A (p.Ala1901Asp)
c.5003C>A (p.Ala1668Asp)
c.5750C>A (p.Ala1917Asp)
gnomAD v4
16g.3729292C>ACA394555600CREBBPc.5755G>T (p.Ala1919Ser)
c.5641G>T (p.Ala1881Ser)
c.5710G>T (p.Ala1904Ser)
c.5338G>T (p.Ala1780Ser)
c.5494G>T (p.Ala1832Ser)
c.5701G>T (p.Ala1901Ser)
c.5002G>T (p.Ala1668Ser)
c.5749G>T (p.Ala1917Ser)
dbSNP gnomAD v4
16g.3729292C>GCA394555601CREBBPc.5755G>C (p.Ala1919Pro)
c.5641G>C (p.Ala1881Pro)
c.5710G>C (p.Ala1904Pro)
c.5338G>C (p.Ala1780Pro)
c.5494G>C (p.Ala1832Pro)
c.5701G>C (p.Ala1901Pro)
c.5002G>C (p.Ala1668Pro)
c.5749G>C (p.Ala1917Pro)
dbSNP gnomAD v4
16g.3729292C>TCA394555602CREBBPc.5755G>A (p.Ala1919Thr)
c.5641G>A (p.Ala1881Thr)
c.5710G>A (p.Ala1904Thr)
c.5338G>A (p.Ala1780Thr)
c.5494G>A (p.Ala1832Thr)
c.5701G>A (p.Ala1901Thr)
c.5002G>A (p.Ala1668Thr)
c.5749G>A (p.Ala1917Thr)
dbSNP gnomAD v4
16g.3729293T>ACA493394041CREBBPc.5754A>T (p.Pro1918=)
c.5640A>T (p.Pro1880=)
c.5709A>T (p.Pro1903=)
c.5337A>T (p.Pro1779=)
c.5493A>T (p.Pro1831=)
c.5700A>T (p.Pro1900=)
c.5001A>T (p.Pro1667=)
c.5748A>T (p.Pro1916=)
dbSNP
16g.3729293T>CCA493394042CREBBPc.5754A>G (p.Pro1918=)
c.5640A>G (p.Pro1880=)
c.5709A>G (p.Pro1903=)
c.5337A>G (p.Pro1779=)
c.5493A>G (p.Pro1831=)
c.5700A>G (p.Pro1900=)
c.5001A>G (p.Pro1667=)
c.5748A>G (p.Pro1916=)
16g.3729293T>GCA493394043CREBBPc.5754A>C (p.Pro1918=)
c.5640A>C (p.Pro1880=)
c.5709A>C (p.Pro1903=)
c.5337A>C (p.Pro1779=)
c.5493A>C (p.Pro1831=)
c.5700A>C (p.Pro1900=)
c.5001A>C (p.Pro1667=)
c.5748A>C (p.Pro1916=)
dbSNP
16g.3729294G>ACA394555603CREBBPc.5753C>T (p.Pro1918Leu)
c.5639C>T (p.Pro1880Leu)
c.5708C>T (p.Pro1903Leu)
c.5336C>T (p.Pro1779Leu)
c.5492C>T (p.Pro1831Leu)
c.5699C>T (p.Pro1900Leu)
c.5000C>T (p.Pro1667Leu)
c.5747C>T (p.Pro1916Leu)
ClinVar dbSNP
16g.3729294G>CCA394555604CREBBPc.5753C>G (p.Pro1918Arg)
c.5639C>G (p.Pro1880Arg)
c.5708C>G (p.Pro1903Arg)
c.5336C>G (p.Pro1779Arg)
c.5492C>G (p.Pro1831Arg)
c.5699C>G (p.Pro1900Arg)
c.5000C>G (p.Pro1667Arg)
c.5747C>G (p.Pro1916Arg)
16g.3729294G>TCA394555605CREBBPc.5753C>A (p.Pro1918Gln)
c.5639C>A (p.Pro1880Gln)
c.5708C>A (p.Pro1903Gln)
c.5336C>A (p.Pro1779Gln)
c.5492C>A (p.Pro1831Gln)
c.5699C>A (p.Pro1900Gln)
c.5000C>A (p.Pro1667Gln)
c.5747C>A (p.Pro1916Gln)
gnomAD v4
16g.3729295G>ACA394555606CREBBPc.5752C>T (p.Pro1918Ser)
c.5638C>T (p.Pro1880Ser)
c.5707C>T (p.Pro1903Ser)
c.5335C>T (p.Pro1779Ser)
c.5491C>T (p.Pro1831Ser)
c.5698C>T (p.Pro1900Ser)
c.4999C>T (p.Pro1667Ser)
c.5746C>T (p.Pro1916Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729295G>CCA394555607CREBBPc.5752C>G (p.Pro1918Ala)
c.5638C>G (p.Pro1880Ala)
c.5707C>G (p.Pro1903Ala)
c.5335C>G (p.Pro1779Ala)
c.5491C>G (p.Pro1831Ala)
c.5698C>G (p.Pro1900Ala)
c.4999C>G (p.Pro1667Ala)
c.5746C>G (p.Pro1916Ala)
dbSNP
16g.3729295G=CA2202916336CREBBPc.5752C= (p.Pro1918=)
c.5638C= (p.Pro1880=)
c.5707C= (p.Pro1903=)
c.5335C= (p.Pro1779=)
c.5491C= (p.Pro1831=)
c.5698C= (p.Pro1900=)
c.4999C= (p.Pro1667=)
c.5746C= (p.Pro1916=)
16g.3729295G>TCA394555608CREBBPc.5752C>A (p.Pro1918Thr)
c.5638C>A (p.Pro1880Thr)
c.5707C>A (p.Pro1903Thr)
c.5335C>A (p.Pro1779Thr)
c.5491C>A (p.Pro1831Thr)
c.5698C>A (p.Pro1900Thr)
c.4999C>A (p.Pro1667Thr)
c.5746C>A (p.Pro1916Thr)
gnomAD v4
16g.3729296T>ACA493394045CREBBPc.5751A>T (p.Ser1917=)
c.5637A>T (p.Ser1879=)
c.5706A>T (p.Ser1902=)
c.5334A>T (p.Ser1778=)
c.5490A>T (p.Ser1830=)
c.5697A>T (p.Ser1899=)
c.4998A>T (p.Ser1666=)
c.5745A>T (p.Ser1915=)
dbSNP
16g.3729296T>CCA493394046CREBBPc.5751A>G (p.Ser1917=)
c.5637A>G (p.Ser1879=)
c.5706A>G (p.Ser1902=)
c.5334A>G (p.Ser1778=)
c.5490A>G (p.Ser1830=)
c.5697A>G (p.Ser1899=)
c.4998A>G (p.Ser1666=)
c.5745A>G (p.Ser1915=)
gnomAD v4
16g.3729296T>GCA493394047CREBBPc.5751A>C (p.Ser1917=)
c.5637A>C (p.Ser1879=)
c.5706A>C (p.Ser1902=)
c.5334A>C (p.Ser1778=)
c.5490A>C (p.Ser1830=)
c.5697A>C (p.Ser1899=)
c.4998A>C (p.Ser1666=)
c.5745A>C (p.Ser1915=)
16g.3729297G>ACA394555609CREBBPc.5750C>T (p.Ser1917Leu)
c.5636C>T (p.Ser1879Leu)
c.5705C>T (p.Ser1902Leu)
c.5333C>T (p.Ser1778Leu)
c.5489C>T (p.Ser1830Leu)
c.5696C>T (p.Ser1899Leu)
c.4997C>T (p.Ser1666Leu)
c.5744C>T (p.Ser1915Leu)
dbSNP gnomAD v4
16g.3729297G>CCA394555610CREBBPc.5750C>G (p.Ser1917Ter)
c.5636C>G (p.Ser1879Ter)
c.5705C>G (p.Ser1902Ter)
c.5333C>G (p.Ser1778Ter)
c.5489C>G (p.Ser1830Ter)
c.5696C>G (p.Ser1899Ter)
c.4997C>G (p.Ser1666Ter)
c.5744C>G (p.Ser1915Ter)
dbSNP
16g.3729297G>TCA394555611CREBBPc.5750C>A (p.Ser1917Ter)
c.5636C>A (p.Ser1879Ter)
c.5705C>A (p.Ser1902Ter)
c.5333C>A (p.Ser1778Ter)
c.5489C>A (p.Ser1830Ter)
c.5696C>A (p.Ser1899Ter)
c.4997C>A (p.Ser1666Ter)
c.5744C>A (p.Ser1915Ter)
dbSNP gnomAD v4
16g.3729298A>CCA394555613CREBBPc.5749T>G (p.Ser1917Ala)
c.5635T>G (p.Ser1879Ala)
c.5704T>G (p.Ser1902Ala)
c.5332T>G (p.Ser1778Ala)
c.5488T>G (p.Ser1830Ala)
c.5695T>G (p.Ser1899Ala)
c.4996T>G (p.Ser1666Ala)
c.5743T>G (p.Ser1915Ala)
dbSNP
16g.3729298A>GCA394555614CREBBPc.5749T>C (p.Ser1917Pro)
c.5635T>C (p.Ser1879Pro)
c.5704T>C (p.Ser1902Pro)
c.5332T>C (p.Ser1778Pro)
c.5488T>C (p.Ser1830Pro)
c.5695T>C (p.Ser1899Pro)
c.4996T>C (p.Ser1666Pro)
c.5743T>C (p.Ser1915Pro)
dbSNP
16g.3729298A>TCA394555612CREBBPc.5749T>A (p.Ser1917Thr)
c.5635T>A (p.Ser1879Thr)
c.5704T>A (p.Ser1902Thr)
c.5332T>A (p.Ser1778Thr)
c.5488T>A (p.Ser1830Thr)
c.5695T>A (p.Ser1899Thr)
c.4996T>A (p.Ser1666Thr)
c.5743T>A (p.Ser1915Thr)
dbSNP
16g.3729299C>ACA394555615CREBBPc.5748G>T (p.Met1916Ile)
c.5634G>T (p.Met1878Ile)
c.5703G>T (p.Met1901Ile)
c.5331G>T (p.Met1777Ile)
c.5487G>T (p.Met1829Ile)
c.5694G>T (p.Met1898Ile)
c.4995G>T (p.Met1665Ile)
c.5742G>T (p.Met1914Ile)
16g.3729299C>GCA394555616CREBBPc.5748G>C (p.Met1916Ile)
c.5634G>C (p.Met1878Ile)
c.5703G>C (p.Met1901Ile)
c.5331G>C (p.Met1777Ile)
c.5487G>C (p.Met1829Ile)
c.5694G>C (p.Met1898Ile)
c.4995G>C (p.Met1665Ile)
c.5742G>C (p.Met1914Ile)
dbSNP
16g.3729299C>TCA394555617CREBBPc.5748G>A (p.Met1916Ile)
c.5634G>A (p.Met1878Ile)
c.5703G>A (p.Met1901Ile)
c.5331G>A (p.Met1777Ile)
c.5487G>A (p.Met1829Ile)
c.5694G>A (p.Met1898Ile)
c.4995G>A (p.Met1665Ile)
c.5742G>A (p.Met1914Ile)
dbSNP
16g.3729300A=CA2202916337CREBBPc.5747T= (p.Met1916=)
c.5633T= (p.Met1878=)
c.5702T= (p.Met1901=)
c.5330T= (p.Met1777=)
c.5486T= (p.Met1829=)
c.5693T= (p.Met1898=)
c.4994T= (p.Met1665=)
c.5741T= (p.Met1914=)
16g.3729300A>CCA394555618CREBBPc.5747T>G (p.Met1916Arg)
c.5633T>G (p.Met1878Arg)
c.5702T>G (p.Met1901Arg)
c.5330T>G (p.Met1777Arg)
c.5486T>G (p.Met1829Arg)
c.5693T>G (p.Met1898Arg)
c.4994T>G (p.Met1665Arg)
c.5741T>G (p.Met1914Arg)
16g.3729300A>GCA7869249CREBBPc.5747T>C (p.Met1916Thr)
c.5633T>C (p.Met1878Thr)
c.5702T>C (p.Met1901Thr)
c.5330T>C (p.Met1777Thr)
c.5486T>C (p.Met1829Thr)
c.5693T>C (p.Met1898Thr)
c.4994T>C (p.Met1665Thr)
c.5741T>C (p.Met1914Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729300A>TCA394555619CREBBPc.5747T>A (p.Met1916Lys)
c.5633T>A (p.Met1878Lys)
c.5702T>A (p.Met1901Lys)
c.5330T>A (p.Met1777Lys)
c.5486T>A (p.Met1829Lys)
c.5693T>A (p.Met1898Lys)
c.4994T>A (p.Met1665Lys)
c.5741T>A (p.Met1914Lys)
dbSNP
16g.3729301T>ACA394555622CREBBPc.5746A>T (p.Met1916Leu)
c.5632A>T (p.Met1878Leu)
c.5701A>T (p.Met1901Leu)
c.5329A>T (p.Met1777Leu)
c.5485A>T (p.Met1829Leu)
c.5692A>T (p.Met1898Leu)
c.4993A>T (p.Met1665Leu)
c.5740A>T (p.Met1914Leu)
dbSNP
16g.3729301T>CCA394555620CREBBPc.5746A>G (p.Met1916Val)
c.5632A>G (p.Met1878Val)
c.5701A>G (p.Met1901Val)
c.5329A>G (p.Met1777Val)
c.5485A>G (p.Met1829Val)
c.5692A>G (p.Met1898Val)
c.4993A>G (p.Met1665Val)
c.5740A>G (p.Met1914Val)
dbSNP
16g.3729301T>GCA394555621CREBBPc.5746A>C (p.Met1916Leu)
c.5632A>C (p.Met1878Leu)
c.5701A>C (p.Met1901Leu)
c.5329A>C (p.Met1777Leu)
c.5485A>C (p.Met1829Leu)
c.5692A>C (p.Met1898Leu)
c.4993A>C (p.Met1665Leu)
c.5740A>C (p.Met1914Leu)
dbSNP
16g.3729302G>ACA493394051CREBBPc.5745C>T (p.Ser1915=)
c.5631C>T (p.Ser1877=)
c.5700C>T (p.Ser1900=)
c.5328C>T (p.Ser1776=)
c.5484C>T (p.Ser1828=)
c.5691C>T (p.Ser1897=)
c.4992C>T (p.Ser1664=)
c.5739C>T (p.Ser1913=)
dbSNP
16g.3729302G>CCA394555623CREBBPc.5745C>G (p.Ser1915Arg)
c.5631C>G (p.Ser1877Arg)
c.5700C>G (p.Ser1900Arg)
c.5328C>G (p.Ser1776Arg)
c.5484C>G (p.Ser1828Arg)
c.5691C>G (p.Ser1897Arg)
c.4992C>G (p.Ser1664Arg)
c.5739C>G (p.Ser1913Arg)
dbSNP
16g.3729302G>TCA394555624CREBBPc.5745C>A (p.Ser1915Arg)
c.5631C>A (p.Ser1877Arg)
c.5700C>A (p.Ser1900Arg)
c.5328C>A (p.Ser1776Arg)
c.5484C>A (p.Ser1828Arg)
c.5691C>A (p.Ser1897Arg)
c.4992C>A (p.Ser1664Arg)
c.5739C>A (p.Ser1913Arg)
gnomAD v4
16g.3729303C>ACA394555625CREBBPc.5744G>T (p.Ser1915Ile)
c.5630G>T (p.Ser1877Ile)
c.5699G>T (p.Ser1900Ile)
c.5327G>T (p.Ser1776Ile)
c.5483G>T (p.Ser1828Ile)
c.5690G>T (p.Ser1897Ile)
c.4991G>T (p.Ser1664Ile)
c.5738G>T (p.Ser1913Ile)
dbSNP
16g.3729303C>GCA394555626CREBBPc.5744G>C (p.Ser1915Thr)
c.5630G>C (p.Ser1877Thr)
c.5699G>C (p.Ser1900Thr)
c.5327G>C (p.Ser1776Thr)
c.5483G>C (p.Ser1828Thr)
c.5690G>C (p.Ser1897Thr)
c.4991G>C (p.Ser1664Thr)
c.5738G>C (p.Ser1913Thr)
dbSNP
16g.3729303C>TCA394555627CREBBPc.5744G>A (p.Ser1915Asn)
c.5630G>A (p.Ser1877Asn)
c.5699G>A (p.Ser1900Asn)
c.5327G>A (p.Ser1776Asn)
c.5483G>A (p.Ser1828Asn)
c.5690G>A (p.Ser1897Asn)
c.4991G>A (p.Ser1664Asn)
c.5738G>A (p.Ser1913Asn)
dbSNP gnomAD v4
16g.3729304T>ACA394555630CREBBPc.5743A>T (p.Ser1915Cys)
c.5629A>T (p.Ser1877Cys)
c.5698A>T (p.Ser1900Cys)
c.5326A>T (p.Ser1776Cys)
c.5482A>T (p.Ser1828Cys)
c.5689A>T (p.Ser1897Cys)
c.4990A>T (p.Ser1664Cys)
c.5737A>T (p.Ser1913Cys)
dbSNP
16g.3729304T>CCA394555628CREBBPc.5743A>G (p.Ser1915Gly)
c.5629A>G (p.Ser1877Gly)
c.5698A>G (p.Ser1900Gly)
c.5326A>G (p.Ser1776Gly)
c.5482A>G (p.Ser1828Gly)
c.5689A>G (p.Ser1897Gly)
c.4990A>G (p.Ser1664Gly)
c.5737A>G (p.Ser1913Gly)
16g.3729304T>GCA394555629CREBBPc.5743A>C (p.Ser1915Arg)
c.5629A>C (p.Ser1877Arg)
c.5698A>C (p.Ser1900Arg)
c.5326A>C (p.Ser1776Arg)
c.5482A>C (p.Ser1828Arg)
c.5689A>C (p.Ser1897Arg)
c.4990A>C (p.Ser1664Arg)
c.5737A>C (p.Ser1913Arg)
16g.3729305C>ACA493394054CREBBPc.5742G>T (p.Val1914=)
c.5628G>T (p.Val1876=)
c.5697G>T (p.Val1899=)
c.5325G>T (p.Val1775=)
c.5481G>T (p.Val1827=)
c.5688G>T (p.Val1896=)
c.4989G>T (p.Val1663=)
c.5736G>T (p.Val1912=)
dbSNP gnomAD v4
16g.3729305C=CA2202916338CREBBPc.5742G= (p.Val1914=)
c.5628G= (p.Val1876=)
c.5697G= (p.Val1899=)
c.5325G= (p.Val1775=)
c.5481G= (p.Val1827=)
c.5688G= (p.Val1896=)
c.4989G= (p.Val1663=)
c.5736G= (p.Val1912=)
16g.3729305C>GCA493394052CREBBPc.5742G>C (p.Val1914=)
c.5628G>C (p.Val1876=)
c.5697G>C (p.Val1899=)
c.5325G>C (p.Val1775=)
c.5481G>C (p.Val1827=)
c.5688G>C (p.Val1896=)
c.4989G>C (p.Val1663=)
c.5736G>C (p.Val1912=)
dbSNP
16g.3729305C>TCA493394053CREBBPc.5742G>A (p.Val1914=)
c.5628G>A (p.Val1876=)
c.5697G>A (p.Val1899=)
c.5325G>A (p.Val1775=)
c.5481G>A (p.Val1827=)
c.5688G>A (p.Val1896=)
c.4989G>A (p.Val1663=)
c.5736G>A (p.Val1912=)
dbSNP gnomAD v4
16g.3729306A>CCA394555631CREBBPc.5741T>G (p.Val1914Gly)
c.5627T>G (p.Val1876Gly)
c.5696T>G (p.Val1899Gly)
c.5324T>G (p.Val1775Gly)
c.5480T>G (p.Val1827Gly)
c.5687T>G (p.Val1896Gly)
c.4988T>G (p.Val1663Gly)
c.5735T>G (p.Val1912Gly)
16g.3729306A>GCA394555632CREBBPc.5741T>C (p.Val1914Ala)
c.5627T>C (p.Val1876Ala)
c.5696T>C (p.Val1899Ala)
c.5324T>C (p.Val1775Ala)
c.5480T>C (p.Val1827Ala)
c.5687T>C (p.Val1896Ala)
c.4988T>C (p.Val1663Ala)
c.5735T>C (p.Val1912Ala)
gnomAD v4
16g.3729306A>TCA394555633CREBBPc.5741T>A (p.Val1914Glu)
c.5627T>A (p.Val1876Glu)
c.5696T>A (p.Val1899Glu)
c.5324T>A (p.Val1775Glu)
c.5480T>A (p.Val1827Glu)
c.5687T>A (p.Val1896Glu)
c.4988T>A (p.Val1663Glu)
c.5735T>A (p.Val1912Glu)
16g.3729307C>ACA394555634CREBBPc.5740G>T (p.Val1914Leu)
c.5626G>T (p.Val1876Leu)
c.5695G>T (p.Val1899Leu)
c.5323G>T (p.Val1775Leu)
c.5479G>T (p.Val1827Leu)
c.5686G>T (p.Val1896Leu)
c.4987G>T (p.Val1663Leu)
c.5734G>T (p.Val1912Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729307C=CA2202916339CREBBPc.5740G= (p.Val1914=)
c.5626G= (p.Val1876=)
c.5695G= (p.Val1899=)
c.5323G= (p.Val1775=)
c.5479G= (p.Val1827=)
c.5686G= (p.Val1896=)
c.4987G= (p.Val1663=)
c.5734G= (p.Val1912=)
16g.3729307C>GCA7869251CREBBPc.5740G>C (p.Val1914Leu)
c.5626G>C (p.Val1876Leu)
c.5695G>C (p.Val1899Leu)
c.5323G>C (p.Val1775Leu)
c.5479G>C (p.Val1827Leu)
c.5686G>C (p.Val1896Leu)
c.4987G>C (p.Val1663Leu)
c.5734G>C (p.Val1912Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729307C>TCA7869250CREBBPc.5740G>A (p.Val1914Met)
c.5626G>A (p.Val1876Met)
c.5695G>A (p.Val1899Met)
c.5323G>A (p.Val1775Met)
c.5479G>A (p.Val1827Met)
c.5686G>A (p.Val1896Met)
c.4987G>A (p.Val1663Met)
c.5734G>A (p.Val1912Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729308G>ACA7869252CREBBPc.5739C>T (p.Pro1913=)
c.5625C>T (p.Pro1875=)
c.5694C>T (p.Pro1898=)
c.5322C>T (p.Pro1774=)
c.5478C>T (p.Pro1826=)
c.5685C>T (p.Pro1895=)
c.4986C>T (p.Pro1662=)
c.5733C>T (p.Pro1911=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729308G>CCA493394056CREBBPc.5739C>G (p.Pro1913=)
c.5625C>G (p.Pro1875=)
c.5694C>G (p.Pro1898=)
c.5322C>G (p.Pro1774=)
c.5478C>G (p.Pro1826=)
c.5685C>G (p.Pro1895=)
c.4986C>G (p.Pro1662=)
c.5733C>G (p.Pro1911=)
dbSNP
16g.3729308G=CA2202916340CREBBPc.5739C= (p.Pro1913=)
c.5625C= (p.Pro1875=)
c.5694C= (p.Pro1898=)
c.5322C= (p.Pro1774=)
c.5478C= (p.Pro1826=)
c.5685C= (p.Pro1895=)
c.4986C= (p.Pro1662=)
c.5733C= (p.Pro1911=)
16g.3729308G>TCA493394057CREBBPc.5739C>A (p.Pro1913=)
c.5625C>A (p.Pro1875=)
c.5694C>A (p.Pro1898=)
c.5322C>A (p.Pro1774=)
c.5478C>A (p.Pro1826=)
c.5685C>A (p.Pro1895=)
c.4986C>A (p.Pro1662=)
c.5733C>A (p.Pro1911=)
dbSNP gnomAD v4
16g.3729309G>ACA394555635CREBBPc.5738C>T (p.Pro1913Leu)
c.5624C>T (p.Pro1875Leu)
c.5693C>T (p.Pro1898Leu)
c.5321C>T (p.Pro1774Leu)
c.5477C>T (p.Pro1826Leu)
c.5684C>T (p.Pro1895Leu)
c.4985C>T (p.Pro1662Leu)
c.5732C>T (p.Pro1911Leu)
dbSNP gnomAD v4
16g.3729309G>CCA394555636CREBBPc.5738C>G (p.Pro1913Arg)
c.5624C>G (p.Pro1875Arg)
c.5693C>G (p.Pro1898Arg)
c.5321C>G (p.Pro1774Arg)
c.5477C>G (p.Pro1826Arg)
c.5684C>G (p.Pro1895Arg)
c.4985C>G (p.Pro1662Arg)
c.5732C>G (p.Pro1911Arg)
16g.3729309G>TCA394555637CREBBPc.5738C>A (p.Pro1913His)
c.5624C>A (p.Pro1875His)
c.5693C>A (p.Pro1898His)
c.5321C>A (p.Pro1774His)
c.5477C>A (p.Pro1826His)
c.5684C>A (p.Pro1895His)
c.4985C>A (p.Pro1662His)
c.5732C>A (p.Pro1911His)
dbSNP gnomAD v4
16g.3729310G>ACA394555638CREBBPc.5737C>T (p.Pro1913Ser)
c.5623C>T (p.Pro1875Ser)
c.5692C>T (p.Pro1898Ser)
c.5320C>T (p.Pro1774Ser)
c.5476C>T (p.Pro1826Ser)
c.5683C>T (p.Pro1895Ser)
c.4984C>T (p.Pro1662Ser)
c.5731C>T (p.Pro1911Ser)
dbSNP
16g.3729310G>CCA394555639CREBBPc.5737C>G (p.Pro1913Ala)
c.5623C>G (p.Pro1875Ala)
c.5692C>G (p.Pro1898Ala)
c.5320C>G (p.Pro1774Ala)
c.5476C>G (p.Pro1826Ala)
c.5683C>G (p.Pro1895Ala)
c.4984C>G (p.Pro1662Ala)
c.5731C>G (p.Pro1911Ala)
dbSNP gnomAD v3 gnomAD v4
16g.3729310G=CA2202916341CREBBPc.5737C= (p.Pro1913=)
c.5623C= (p.Pro1875=)
c.5692C= (p.Pro1898=)
c.5320C= (p.Pro1774=)
c.5476C= (p.Pro1826=)
c.5683C= (p.Pro1895=)
c.4984C= (p.Pro1662=)
c.5731C= (p.Pro1911=)
16g.3729310G>TCA394555640CREBBPc.5737C>A (p.Pro1913Thr)
c.5623C>A (p.Pro1875Thr)
c.5692C>A (p.Pro1898Thr)
c.5320C>A (p.Pro1774Thr)
c.5476C>A (p.Pro1826Thr)
c.5683C>A (p.Pro1895Thr)
c.4984C>A (p.Pro1662Thr)
c.5731C>A (p.Pro1911Thr)
gnomAD v4
16g.3729311T>ACA493394058CREBBPc.5736A>T (p.Ser1912=)
c.5622A>T (p.Ser1874=)
c.5691A>T (p.Ser1897=)
c.5319A>T (p.Ser1773=)
c.5475A>T (p.Ser1825=)
c.5682A>T (p.Ser1894=)
c.4983A>T (p.Ser1661=)
c.5730A>T (p.Ser1910=)
dbSNP
16g.3729311T>CCA493394061CREBBPc.5736A>G (p.Ser1912=)
c.5622A>G (p.Ser1874=)
c.5691A>G (p.Ser1897=)
c.5319A>G (p.Ser1773=)
c.5475A>G (p.Ser1825=)
c.5682A>G (p.Ser1894=)
c.4983A>G (p.Ser1661=)
c.5730A>G (p.Ser1910=)
dbSNP
16g.3729311T>GCA493394060CREBBPc.5736A>C (p.Ser1912=)
c.5622A>C (p.Ser1874=)
c.5691A>C (p.Ser1897=)
c.5319A>C (p.Ser1773=)
c.5475A>C (p.Ser1825=)
c.5682A>C (p.Ser1894=)
c.4983A>C (p.Ser1661=)
c.5730A>C (p.Ser1910=)
dbSNP gnomAD v4
16g.3729311T=CA2202916342CREBBPc.5736A= (p.Ser1912=)
c.5622A= (p.Ser1874=)
c.5691A= (p.Ser1897=)
c.5319A= (p.Ser1773=)
c.5475A= (p.Ser1825=)
c.5682A= (p.Ser1894=)
c.4983A= (p.Ser1661=)
c.5730A= (p.Ser1910=)
16g.3729312G>ACA394555641CREBBPc.5735C>T (p.Ser1912Leu)
c.5621C>T (p.Ser1874Leu)
c.5690C>T (p.Ser1897Leu)
c.5318C>T (p.Ser1773Leu)
c.5474C>T (p.Ser1825Leu)
c.5681C>T (p.Ser1894Leu)
c.4982C>T (p.Ser1661Leu)
c.5729C>T (p.Ser1910Leu)
dbSNP
16g.3729312G>CCA394555643CREBBPc.5735C>G (p.Ser1912Ter)
c.5621C>G (p.Ser1874Ter)
c.5690C>G (p.Ser1897Ter)
c.5318C>G (p.Ser1773Ter)
c.5474C>G (p.Ser1825Ter)
c.5681C>G (p.Ser1894Ter)
c.4982C>G (p.Ser1661Ter)
c.5729C>G (p.Ser1910Ter)
dbSNP
16g.3729312G>TCA394555642CREBBPc.5735C>A (p.Ser1912Ter)
c.5621C>A (p.Ser1874Ter)
c.5690C>A (p.Ser1897Ter)
c.5318C>A (p.Ser1773Ter)
c.5474C>A (p.Ser1825Ter)
c.5681C>A (p.Ser1894Ter)
c.4982C>A (p.Ser1661Ter)
c.5729C>A (p.Ser1910Ter)
gnomAD v4
16g.3729313A=CA2202916343CREBBPc.5734T= (p.Ser1912=)
c.5620T= (p.Ser1874=)
c.5689T= (p.Ser1897=)
c.5317T= (p.Ser1773=)
c.5473T= (p.Ser1825=)
c.5680T= (p.Ser1894=)
c.4981T= (p.Ser1661=)
c.5728T= (p.Ser1910=)
16g.3729313A>CCA394555644CREBBPc.5734T>G (p.Ser1912Ala)
c.5620T>G (p.Ser1874Ala)
c.5689T>G (p.Ser1897Ala)
c.5317T>G (p.Ser1773Ala)
c.5473T>G (p.Ser1825Ala)
c.5680T>G (p.Ser1894Ala)
c.4981T>G (p.Ser1661Ala)
c.5728T>G (p.Ser1910Ala)
dbSNP
16g.3729313A>GCA394555645CREBBPc.5734T>C (p.Ser1912Pro)
c.5620T>C (p.Ser1874Pro)
c.5689T>C (p.Ser1897Pro)
c.5317T>C (p.Ser1773Pro)
c.5473T>C (p.Ser1825Pro)
c.5680T>C (p.Ser1894Pro)
c.4981T>C (p.Ser1661Pro)
c.5728T>C (p.Ser1910Pro)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3729313A>TCA394555646CREBBPc.5734T>A (p.Ser1912Thr)
c.5620T>A (p.Ser1874Thr)
c.5689T>A (p.Ser1897Thr)
c.5317T>A (p.Ser1773Thr)
c.5473T>A (p.Ser1825Thr)
c.5680T>A (p.Ser1894Thr)
c.4981T>A (p.Ser1661Thr)
c.5728T>A (p.Ser1910Thr)
dbSNP
16g.3729314G>ACA493394062CREBBPc.5733C>T (p.Pro1911=)
c.5619C>T (p.Pro1873=)
c.5688C>T (p.Pro1896=)
c.5316C>T (p.Pro1772=)
c.5472C>T (p.Pro1824=)
c.5679C>T (p.Pro1893=)
c.4980C>T (p.Pro1660=)
c.5727C>T (p.Pro1909=)
dbSNP
16g.3729314G>CCA493394063CREBBPc.5733C>G (p.Pro1911=)
c.5619C>G (p.Pro1873=)
c.5688C>G (p.Pro1896=)
c.5316C>G (p.Pro1772=)
c.5472C>G (p.Pro1824=)
c.5679C>G (p.Pro1893=)
c.4980C>G (p.Pro1660=)
c.5727C>G (p.Pro1909=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729314G=CA2202916344CREBBPc.5733C= (p.Pro1911=)
c.5619C= (p.Pro1873=)
c.5688C= (p.Pro1896=)
c.5316C= (p.Pro1772=)
c.5472C= (p.Pro1824=)
c.5679C= (p.Pro1893=)
c.4980C= (p.Pro1660=)
c.5727C= (p.Pro1909=)
16g.3729314G>TCA493394064CREBBPc.5733C>A (p.Pro1911=)
c.5619C>A (p.Pro1873=)
c.5688C>A (p.Pro1896=)
c.5316C>A (p.Pro1772=)
c.5472C>A (p.Pro1824=)
c.5679C>A (p.Pro1893=)
c.4980C>A (p.Pro1660=)
c.5727C>A (p.Pro1909=)
dbSNP gnomAD v4
16g.3729315G>ACA394555647CREBBPc.5732C>T (p.Pro1911Leu)
c.5618C>T (p.Pro1873Leu)
c.5687C>T (p.Pro1896Leu)
c.5315C>T (p.Pro1772Leu)
c.5471C>T (p.Pro1824Leu)
c.5678C>T (p.Pro1893Leu)
c.4979C>T (p.Pro1660Leu)
c.5726C>T (p.Pro1909Leu)
dbSNP gnomAD v4 COSMIC
16g.3729315G>CCA394555648CREBBPc.5732C>G (p.Pro1911Arg)
c.5618C>G (p.Pro1873Arg)
c.5687C>G (p.Pro1896Arg)
c.5315C>G (p.Pro1772Arg)
c.5471C>G (p.Pro1824Arg)
c.5678C>G (p.Pro1893Arg)
c.4979C>G (p.Pro1660Arg)
c.5726C>G (p.Pro1909Arg)
dbSNP gnomAD v3 gnomAD v4
16g.3729315G=CA2202916345CREBBPc.5732C= (p.Pro1911=)
c.5618C= (p.Pro1873=)
c.5687C= (p.Pro1896=)
c.5315C= (p.Pro1772=)
c.5471C= (p.Pro1824=)
c.5678C= (p.Pro1893=)
c.4979C= (p.Pro1660=)
c.5726C= (p.Pro1909=)
16g.3729315G>TCA394555649CREBBPc.5732C>A (p.Pro1911His)
c.5618C>A (p.Pro1873His)
c.5687C>A (p.Pro1896His)
c.5315C>A (p.Pro1772His)
c.5471C>A (p.Pro1824His)
c.5678C>A (p.Pro1893His)
c.4979C>A (p.Pro1660His)
c.5726C>A (p.Pro1909His)
dbSNP gnomAD v4
16g.3729316G>ACA394555652CREBBPc.5731C>T (p.Pro1911Ser)
c.5617C>T (p.Pro1873Ser)
c.5686C>T (p.Pro1896Ser)
c.5314C>T (p.Pro1772Ser)
c.5470C>T (p.Pro1824Ser)
c.5677C>T (p.Pro1893Ser)
c.4978C>T (p.Pro1660Ser)
c.5725C>T (p.Pro1909Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729316G>CCA394555650CREBBPc.5731C>G (p.Pro1911Ala)
c.5617C>G (p.Pro1873Ala)
c.5686C>G (p.Pro1896Ala)
c.5314C>G (p.Pro1772Ala)
c.5470C>G (p.Pro1824Ala)
c.5677C>G (p.Pro1893Ala)
c.4978C>G (p.Pro1660Ala)
c.5725C>G (p.Pro1909Ala)
dbSNP
16g.3729316G=CA2202916346CREBBPc.5731C= (p.Pro1911=)
c.5617C= (p.Pro1873=)
c.5686C= (p.Pro1896=)
c.5314C= (p.Pro1772=)
c.5470C= (p.Pro1824=)
c.5677C= (p.Pro1893=)
c.4978C= (p.Pro1660=)
c.5725C= (p.Pro1909=)
16g.3729316G>TCA394555651CREBBPc.5731C>A (p.Pro1911Thr)
c.5617C>A (p.Pro1873Thr)
c.5686C>A (p.Pro1896Thr)
c.5314C>A (p.Pro1772Thr)
c.5470C>A (p.Pro1824Thr)
c.5677C>A (p.Pro1893Thr)
c.4978C>A (p.Pro1660Thr)
c.5725C>A (p.Pro1909Thr)
16g.3729317T>ACA394555653CREBBPc.5730A>T (p.Gln1910His)
c.5616A>T (p.Gln1872His)
c.5685A>T (p.Gln1895His)
c.5313A>T (p.Gln1771His)
c.5469A>T (p.Gln1823His)
c.5676A>T (p.Gln1892His)
c.4977A>T (p.Gln1659His)
c.5724A>T (p.Gln1908His)
dbSNP gnomAD v4
16g.3729317T>CCA493394068CREBBPc.5730A>G (p.Gln1910=)
c.5616A>G (p.Gln1872=)
c.5685A>G (p.Gln1895=)
c.5313A>G (p.Gln1771=)
c.5469A>G (p.Gln1823=)
c.5676A>G (p.Gln1892=)
c.4977A>G (p.Gln1659=)
c.5724A>G (p.Gln1908=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729317T>GCA394555654CREBBPc.5730A>C (p.Gln1910His)
c.5616A>C (p.Gln1872His)
c.5685A>C (p.Gln1895His)
c.5313A>C (p.Gln1771His)
c.5469A>C (p.Gln1823His)
c.5676A>C (p.Gln1892His)
c.4977A>C (p.Gln1659His)
c.5724A>C (p.Gln1908His)
dbSNP
16g.3729317T=CA2202916347CREBBPc.5730A= (p.Gln1910=)
c.5616A= (p.Gln1872=)
c.5685A= (p.Gln1895=)
c.5313A= (p.Gln1771=)
c.5469A= (p.Gln1823=)
c.5676A= (p.Gln1892=)
c.4977A= (p.Gln1659=)
c.5724A= (p.Gln1908=)
16g.3729318T>ACA394555655CREBBPc.5729A>T (p.Gln1910Leu)
c.5615A>T (p.Gln1872Leu)
c.5684A>T (p.Gln1895Leu)
c.5312A>T (p.Gln1771Leu)
c.5468A>T (p.Gln1823Leu)
c.5675A>T (p.Gln1892Leu)
c.4976A>T (p.Gln1659Leu)
c.5723A>T (p.Gln1908Leu)
16g.3729318T>CCA394555656CREBBPc.5729A>G (p.Gln1910Arg)
c.5615A>G (p.Gln1872Arg)
c.5684A>G (p.Gln1895Arg)
c.5312A>G (p.Gln1771Arg)
c.5468A>G (p.Gln1823Arg)
c.5675A>G (p.Gln1892Arg)
c.4976A>G (p.Gln1659Arg)
c.5723A>G (p.Gln1908Arg)
16g.3729318T>GCA394555657CREBBPc.5729A>C (p.Gln1910Pro)
c.5615A>C (p.Gln1872Pro)
c.5684A>C (p.Gln1895Pro)
c.5312A>C (p.Gln1771Pro)
c.5468A>C (p.Gln1823Pro)
c.5675A>C (p.Gln1892Pro)
c.4976A>C (p.Gln1659Pro)
c.5723A>C (p.Gln1908Pro)
dbSNP gnomAD v3 gnomAD v4
16g.3729318T=CA2202916348CREBBPc.5729A= (p.Gln1910=)
c.5615A= (p.Gln1872=)
c.5684A= (p.Gln1895=)
c.5312A= (p.Gln1771=)
c.5468A= (p.Gln1823=)
c.5675A= (p.Gln1892=)
c.4976A= (p.Gln1659=)
c.5723A= (p.Gln1908=)
16g.3729319G>ACA394555658CREBBPc.5728C>T (p.Gln1910Ter)
c.5614C>T (p.Gln1872Ter)
c.5683C>T (p.Gln1895Ter)
c.5311C>T (p.Gln1771Ter)
c.5467C>T (p.Gln1823Ter)
c.5674C>T (p.Gln1892Ter)
c.4975C>T (p.Gln1659Ter)
c.5722C>T (p.Gln1908Ter)
dbSNP
16g.3729319G>CCA394555660CREBBPc.5728C>G (p.Gln1910Glu)
c.5614C>G (p.Gln1872Glu)
c.5683C>G (p.Gln1895Glu)
c.5311C>G (p.Gln1771Glu)
c.5467C>G (p.Gln1823Glu)
c.5674C>G (p.Gln1892Glu)
c.4975C>G (p.Gln1659Glu)
c.5722C>G (p.Gln1908Glu)
16g.3729319G>TCA394555659CREBBPc.5728C>A (p.Gln1910Lys)
c.5614C>A (p.Gln1872Lys)
c.5683C>A (p.Gln1895Lys)
c.5311C>A (p.Gln1771Lys)
c.5467C>A (p.Gln1823Lys)
c.5674C>A (p.Gln1892Lys)
c.4975C>A (p.Gln1659Lys)
c.5722C>A (p.Gln1908Lys)
dbSNP gnomAD v4
16g.3729322delCA2731851208CREBBPc.5728del (p.Gln1910AsnfsTer5)
c.5614del (p.Gln1872AsnfsTer5)
c.5683del (p.Gln1895AsnfsTer5)
c.5311del (p.Gln1771AsnfsTer5)
c.5467del (p.Gln1823AsnfsTer5)
c.5674del (p.Gln1892AsnfsTer5)
c.4975del (p.Gln1659AsnfsTer5)
c.5722del (p.Gln1908AsnfsTer5)
dbSNP
16g.3729320G>ACA493394070CREBBPc.5727C>T (p.Pro1909=)
c.5613C>T (p.Pro1871=)
c.5682C>T (p.Pro1894=)
c.5310C>T (p.Pro1770=)
c.5466C>T (p.Pro1822=)
c.5673C>T (p.Pro1891=)
c.4974C>T (p.Pro1658=)
c.5721C>T (p.Pro1907=)
dbSNP gnomAD v4
16g.3729320G>CCA493394072CREBBPc.5727C>G (p.Pro1909=)
c.5613C>G (p.Pro1871=)
c.5682C>G (p.Pro1894=)
c.5310C>G (p.Pro1770=)
c.5466C>G (p.Pro1822=)
c.5673C>G (p.Pro1891=)
c.4974C>G (p.Pro1658=)
c.5721C>G (p.Pro1907=)
dbSNP
16g.3729320G=CA2202916349CREBBPc.5727C= (p.Pro1909=)
c.5613C= (p.Pro1871=)
c.5682C= (p.Pro1894=)
c.5310C= (p.Pro1770=)
c.5466C= (p.Pro1822=)
c.5673C= (p.Pro1891=)
c.4974C= (p.Pro1658=)
c.5721C= (p.Pro1907=)
16g.3729320G>TCA493394073CREBBPc.5727C>A (p.Pro1909=)
c.5613C>A (p.Pro1871=)
c.5682C>A (p.Pro1894=)
c.5310C>A (p.Pro1770=)
c.5466C>A (p.Pro1822=)
c.5673C>A (p.Pro1891=)
c.4974C>A (p.Pro1658=)
c.5721C>A (p.Pro1907=)
dbSNP gnomAD v4
16g.3729321G>ACA394555661CREBBPc.5726C>T (p.Pro1909Leu)
c.5612C>T (p.Pro1871Leu)
c.5681C>T (p.Pro1894Leu)
c.5309C>T (p.Pro1770Leu)
c.5465C>T (p.Pro1822Leu)
c.5672C>T (p.Pro1891Leu)
c.4973C>T (p.Pro1658Leu)
c.5720C>T (p.Pro1907Leu)
ClinVar dbSNP gnomAD v4
16g.3729321G>CCA394555662CREBBPc.5726C>G (p.Pro1909Arg)
c.5612C>G (p.Pro1871Arg)
c.5681C>G (p.Pro1894Arg)
c.5309C>G (p.Pro1770Arg)
c.5465C>G (p.Pro1822Arg)
c.5672C>G (p.Pro1891Arg)
c.4973C>G (p.Pro1658Arg)
c.5720C>G (p.Pro1907Arg)
16g.3729321G>TCA394555663CREBBPc.5726C>A (p.Pro1909His)
c.5612C>A (p.Pro1871His)
c.5681C>A (p.Pro1894His)
c.5309C>A (p.Pro1770His)
c.5465C>A (p.Pro1822His)
c.5672C>A (p.Pro1891His)
c.4973C>A (p.Pro1658His)
c.5720C>A (p.Pro1907His)
dbSNP gnomAD v4
16g.3729322G>ACA394555664CREBBPc.5725C>T (p.Pro1909Ser)
c.5611C>T (p.Pro1871Ser)
c.5680C>T (p.Pro1894Ser)
c.5308C>T (p.Pro1770Ser)
c.5464C>T (p.Pro1822Ser)
c.5671C>T (p.Pro1891Ser)
c.4972C>T (p.Pro1658Ser)
c.5719C>T (p.Pro1907Ser)
16g.3729322G>CCA394555665CREBBPc.5725C>G (p.Pro1909Ala)
c.5611C>G (p.Pro1871Ala)
c.5680C>G (p.Pro1894Ala)
c.5308C>G (p.Pro1770Ala)
c.5464C>G (p.Pro1822Ala)
c.5671C>G (p.Pro1891Ala)
c.4972C>G (p.Pro1658Ala)
c.5719C>G (p.Pro1907Ala)
16g.3729322G>TCA394555666CREBBPc.5725C>A (p.Pro1909Thr)
c.5611C>A (p.Pro1871Thr)
c.5680C>A (p.Pro1894Thr)
c.5308C>A (p.Pro1770Thr)
c.5464C>A (p.Pro1822Thr)
c.5671C>A (p.Pro1891Thr)
c.4972C>A (p.Pro1658Thr)
c.5719C>A (p.Pro1907Thr)
gnomAD v4
16g.3729323C>ACA394555667CREBBPc.5724G>T (p.Gln1908His)
c.5610G>T (p.Gln1870His)
c.5679G>T (p.Gln1893His)
c.5307G>T (p.Gln1769His)
c.5463G>T (p.Gln1821His)
c.5670G>T (p.Gln1890His)
c.4971G>T (p.Gln1657His)
c.5718G>T (p.Gln1906His)
dbSNP gnomAD v4
16g.3729323C=CA2202916350CREBBPc.5724G= (p.Gln1908=)
c.5610G= (p.Gln1870=)
c.5679G= (p.Gln1893=)
c.5307G= (p.Gln1769=)
c.5463G= (p.Gln1821=)
c.5670G= (p.Gln1890=)
c.4971G= (p.Gln1657=)
c.5718G= (p.Gln1906=)
16g.3729323C>GCA7869253CREBBPc.5724G>C (p.Gln1908His)
c.5610G>C (p.Gln1870His)
c.5679G>C (p.Gln1893His)
c.5307G>C (p.Gln1769His)
c.5463G>C (p.Gln1821His)
c.5670G>C (p.Gln1890His)
c.4971G>C (p.Gln1657His)
c.5718G>C (p.Gln1906His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729323C>TCA493394074CREBBPc.5724G>A (p.Gln1908=)
c.5610G>A (p.Gln1870=)
c.5679G>A (p.Gln1893=)
c.5307G>A (p.Gln1769=)
c.5463G>A (p.Gln1821=)
c.5670G>A (p.Gln1890=)
c.4971G>A (p.Gln1657=)
c.5718G>A (p.Gln1906=)
dbSNP gnomAD v2 gnomAD v4
16g.3729324T>ACA394555668CREBBPc.5723A>T (p.Gln1908Leu)
c.5609A>T (p.Gln1870Leu)
c.5678A>T (p.Gln1893Leu)
c.5306A>T (p.Gln1769Leu)
c.5462A>T (p.Gln1821Leu)
c.5669A>T (p.Gln1890Leu)
c.4970A>T (p.Gln1657Leu)
c.5717A>T (p.Gln1906Leu)
16g.3729324T>CCA394555669CREBBPc.5723A>G (p.Gln1908Arg)
c.5609A>G (p.Gln1870Arg)
c.5678A>G (p.Gln1893Arg)
c.5306A>G (p.Gln1769Arg)
c.5462A>G (p.Gln1821Arg)
c.5669A>G (p.Gln1890Arg)
c.4970A>G (p.Gln1657Arg)
c.5717A>G (p.Gln1906Arg)
dbSNP gnomAD v4 COSMIC
16g.3729324T>GCA394555670CREBBPc.5723A>C (p.Gln1908Pro)
c.5609A>C (p.Gln1870Pro)
c.5678A>C (p.Gln1893Pro)
c.5306A>C (p.Gln1769Pro)
c.5462A>C (p.Gln1821Pro)
c.5669A>C (p.Gln1890Pro)
c.4970A>C (p.Gln1657Pro)
c.5717A>C (p.Gln1906Pro)
16g.3729324_3729325delinsTGCA2202916351CREBBPc.5722_5723delinsCA (p.Gln1908=)
c.5608_5609delinsCA (p.Gln1870=)
c.5677_5678delinsCA (p.Gln1893=)
c.5305_5306delinsCA (p.Gln1769=)
c.5461_5462delinsCA (p.Gln1821=)
c.5668_5669delinsCA (p.Gln1890=)
c.4969_4970delinsCA (p.Gln1657=)
c.5716_5717delinsCA (p.Gln1906=)
16g.3729325G>ACA394555671CREBBPc.5722C>T (p.Gln1908Ter)
c.5608C>T (p.Gln1870Ter)
c.5677C>T (p.Gln1893Ter)
c.5305C>T (p.Gln1769Ter)
c.5461C>T (p.Gln1821Ter)
c.5668C>T (p.Gln1890Ter)
c.4969C>T (p.Gln1657Ter)
c.5716C>T (p.Gln1906Ter)
dbSNP
16g.3729325G>CCA394555673CREBBPc.5722C>G (p.Gln1908Glu)
c.5608C>G (p.Gln1870Glu)
c.5677C>G (p.Gln1893Glu)
c.5305C>G (p.Gln1769Glu)
c.5461C>G (p.Gln1821Glu)
c.5668C>G (p.Gln1890Glu)
c.4969C>G (p.Gln1657Glu)
c.5716C>G (p.Gln1906Glu)
16g.3729325G>TCA394555672CREBBPc.5722C>A (p.Gln1908Lys)
c.5608C>A (p.Gln1870Lys)
c.5677C>A (p.Gln1893Lys)
c.5305C>A (p.Gln1769Lys)
c.5461C>A (p.Gln1821Lys)
c.5668C>A (p.Gln1890Lys)
c.4969C>A (p.Gln1657Lys)
c.5716C>A (p.Gln1906Lys)
dbSNP gnomAD v4
16g.3729327delCA915949068CREBBPc.5722del (p.Gln1908SerfsTer7)
c.5608del (p.Gln1870SerfsTer7)
c.5677del (p.Gln1893SerfsTer7)
c.5305del (p.Gln1769SerfsTer7)
c.5461del (p.Gln1821SerfsTer7)
c.5668del (p.Gln1890SerfsTer7)
c.4969del (p.Gln1657SerfsTer7)
c.5716del (p.Gln1906SerfsTer7)
ClinVar dbSNP gnomAD v4
16g.3729326G>ACA493394076CREBBPc.5721C>T (p.Ala1907=)
c.5607C>T (p.Ala1869=)
c.5676C>T (p.Ala1892=)
c.5304C>T (p.Ala1768=)
c.5460C>T (p.Ala1820=)
c.5667C>T (p.Ala1889=)
c.4968C>T (p.Ala1656=)
c.5715C>T (p.Ala1905=)
dbSNP
16g.3729326G>CCA493394077CREBBPc.5721C>G (p.Ala1907=)
c.5607C>G (p.Ala1869=)
c.5676C>G (p.Ala1892=)
c.5304C>G (p.Ala1768=)
c.5460C>G (p.Ala1820=)
c.5667C>G (p.Ala1889=)
c.4968C>G (p.Ala1656=)
c.5715C>G (p.Ala1905=)
dbSNP
16g.3729326G>TCA493394078CREBBPc.5721C>A (p.Ala1907=)
c.5607C>A (p.Ala1869=)
c.5676C>A (p.Ala1892=)
c.5304C>A (p.Ala1768=)
c.5460C>A (p.Ala1820=)
c.5667C>A (p.Ala1889=)
c.4968C>A (p.Ala1656=)
c.5715C>A (p.Ala1905=)
dbSNP

Number of alleles fetched