Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3728612_3728677delCA2631402539CREBBPc.6373_6438del (p.Pro2125_Gln2146del)
c.6259_6324del (p.Pro2087_Gln2108del)
c.6328_6393del (p.Pro2110_Gln2131del)
c.5956_6021del (p.Pro1986_Gln2007del)
c.6112_6177del (p.Pro2038_Gln2059del)
c.6319_6384del (p.Pro2107_Gln2128del)
c.5620_5685del (p.Pro1874_Gln1895del)
c.6367_6432del (p.Pro2123_Gln2144del)
 gnomAD v4
16g.3728627_3728645delinsCTGCAGGCTGGGCTGCTGGCA2202928775CREBBPc.6402_6420delinsCCAGCAGCCCAGCCTGCAG (p.His2134=)
c.6288_6306delinsCCAGCAGCCCAGCCTGCAG (p.His2096=)
c.6357_6375delinsCCAGCAGCCCAGCCTGCAG (p.His2119=)
c.5985_6003delinsCCAGCAGCCCAGCCTGCAG (p.His1995=)
c.6141_6159delinsCCAGCAGCCCAGCCTGCAG (p.His2047=)
c.6348_6366delinsCCAGCAGCCCAGCCTGCAG (p.His2116=)
c.5649_5667delinsCCAGCAGCCCAGCCTGCAG (p.His1883=)
c.6396_6414delinsCCAGCAGCCCAGCCTGCAG (p.His2132=)
16g.3728632_3728649delCA2202928776CREBBPc.6402_6419del (p.His2134_Leu2139del)
c.6288_6305del (p.His2096_Leu2101del)
c.6357_6374del (p.His2119_Leu2124del)
c.5985_6002del (p.His1995_Leu2000del)
c.6141_6158del (p.His2047_Leu2052del)
c.6348_6365del (p.His2116_Leu2121del)
c.5649_5666del (p.His1883_Leu1888del)
c.6396_6413del (p.His2132_Leu2137del)
 dbSNP gnomAD v4
16g.3728629_3728652delinsGCAGGCTGGGCTGCTGGTGCATGCCA2202928778CREBBPc.6395_6418delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly2132=)
c.6281_6304delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly2094=)
c.6350_6373delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly2117=)
c.5978_6001delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly1993=)
c.6134_6157delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly2045=)
c.6341_6364delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly2114=)
c.5642_5665delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly1881=)
c.6389_6412delinsGCATGCACCAGCAGCCCAGCCTGC (p.Gly2130=)
16g.3728639_3728661dupCA276936CREBBPc.6395_6417dup (p.Gln2140AlafsTer11)
c.6281_6303dup (p.Gln2102AlafsTer11)
c.6350_6372dup (p.Gln2125AlafsTer11)
c.5978_6000dup (p.Gln2001AlafsTer11)
c.6134_6156dup (p.Gln2053AlafsTer11)
c.6341_6363dup (p.Gln2122AlafsTer11)
c.5642_5664dup (p.Gln1889AlafsTer11)
c.6389_6411dup (p.Gln2138AlafsTer11)
 ClinVar dbSNP
16g.3728639_3728661delCA915949057CREBBPc.6395_6417del (p.Gly2132AlafsTer?)
c.6281_6303del (p.Gly2094AlafsTer?)
c.6350_6372del (p.Gly2117AlafsTer?)
c.5978_6000del (p.Gly1993AlafsTer?)
c.6134_6156del (p.Gly2045AlafsTer?)
c.6341_6363del (p.Gly2114AlafsTer?)
c.5642_5664del (p.Gly1881AlafsTer?)
c.6389_6411del (p.Gly2130AlafsTer?)
 ClinVar dbSNP
16g.3728637G>ACA394553447CREBBPc.6410C>T (p.Pro2137Leu)
c.6296C>T (p.Pro2099Leu)
c.6365C>T (p.Pro2122Leu)
c.5993C>T (p.Pro1998Leu)
c.6149C>T (p.Pro2050Leu)
c.6356C>T (p.Pro2119Leu)
c.5657C>T (p.Pro1886Leu)
c.6404C>T (p.Pro2135Leu)
 dbSNP
16g.3728637G>CCA394553448CREBBPc.6410C>G (p.Pro2137Arg)
c.6296C>G (p.Pro2099Arg)
c.6365C>G (p.Pro2122Arg)
c.5993C>G (p.Pro1998Arg)
c.6149C>G (p.Pro2050Arg)
c.6356C>G (p.Pro2119Arg)
c.5657C>G (p.Pro1886Arg)
c.6404C>G (p.Pro2135Arg)
 dbSNP
16g.3728637G=CA2202928783CREBBPc.6410C= (p.Pro2137=)
c.6296C= (p.Pro2099=)
c.6365C= (p.Pro2122=)
c.5993C= (p.Pro1998=)
c.6149C= (p.Pro2050=)
c.6356C= (p.Pro2119=)
c.5657C= (p.Pro1886=)
c.6404C= (p.Pro2135=)
16g.3728637G>TCA394553449CREBBPc.6410C>A (p.Pro2137His)
c.6296C>A (p.Pro2099His)
c.6365C>A (p.Pro2122His)
c.5993C>A (p.Pro1998His)
c.6149C>A (p.Pro2050His)
c.6356C>A (p.Pro2119His)
c.5657C>A (p.Pro1886His)
c.6404C>A (p.Pro2135His)
 dbSNP COSMIC
16g.3728638G>ACA394553450CREBBPc.6409C>T (p.Pro2137Ser)
c.6295C>T (p.Pro2099Ser)
c.6364C>T (p.Pro2122Ser)
c.5992C>T (p.Pro1998Ser)
c.6148C>T (p.Pro2050Ser)
c.6355C>T (p.Pro2119Ser)
c.5656C>T (p.Pro1886Ser)
c.6403C>T (p.Pro2135Ser)
 dbSNP gnomAD v4
16g.3728638G>CCA394553451CREBBPc.6409C>G (p.Pro2137Ala)
c.6295C>G (p.Pro2099Ala)
c.6364C>G (p.Pro2122Ala)
c.5992C>G (p.Pro1998Ala)
c.6148C>G (p.Pro2050Ala)
c.6355C>G (p.Pro2119Ala)
c.5656C>G (p.Pro1886Ala)
c.6403C>G (p.Pro2135Ala)
 dbSNP
16g.3728638G>TCA394553452CREBBPc.6409C>A (p.Pro2137Thr)
c.6295C>A (p.Pro2099Thr)
c.6364C>A (p.Pro2122Thr)
c.5992C>A (p.Pro1998Thr)
c.6148C>A (p.Pro2050Thr)
c.6355C>A (p.Pro2119Thr)
c.5656C>A (p.Pro1886Thr)
c.6403C>A (p.Pro2135Thr)
 dbSNP
16g.3728639C>ACA394553453CREBBPc.6408G>T (p.Gln2136His)
c.6294G>T (p.Gln2098His)
c.6363G>T (p.Gln2121His)
c.5991G>T (p.Gln1997His)
c.6147G>T (p.Gln2049His)
c.6354G>T (p.Gln2118His)
c.5655G>T (p.Gln1885His)
c.6402G>T (p.Gln2134His)
 dbSNP gnomAD v4
16g.3728639C=CA2202928784CREBBPc.6408G= (p.Gln2136=)
c.6294G= (p.Gln2098=)
c.6363G= (p.Gln2121=)
c.5991G= (p.Gln1997=)
c.6147G= (p.Gln2049=)
c.6354G= (p.Gln2118=)
c.5655G= (p.Gln1885=)
c.6402G= (p.Gln2134=)
16g.3728639C>GCA394553454CREBBPc.6408G>C (p.Gln2136His)
c.6294G>C (p.Gln2098His)
c.6363G>C (p.Gln2121His)
c.5991G>C (p.Gln1997His)
c.6147G>C (p.Gln2049His)
c.6354G>C (p.Gln2118His)
c.5655G>C (p.Gln1885His)
c.6402G>C (p.Gln2134His)
16g.3728639C>TCA493393515CREBBPc.6408G>A (p.Gln2136=)
c.6294G>A (p.Gln2098=)
c.6363G>A (p.Gln2121=)
c.5991G>A (p.Gln1997=)
c.6147G>A (p.Gln2049=)
c.6354G>A (p.Gln2118=)
c.5655G>A (p.Gln1885=)
c.6402G>A (p.Gln2134=)
16g.3728640T>ACA394553455CREBBPc.6407A>T (p.Gln2136Leu)
c.6293A>T (p.Gln2098Leu)
c.6362A>T (p.Gln2121Leu)
c.5990A>T (p.Gln1997Leu)
c.6146A>T (p.Gln2049Leu)
c.6353A>T (p.Gln2118Leu)
c.5654A>T (p.Gln1885Leu)
c.6401A>T (p.Gln2134Leu)
 dbSNP
16g.3728640T>CCA394553456CREBBPc.6407A>G (p.Gln2136Arg)
c.6293A>G (p.Gln2098Arg)
c.6362A>G (p.Gln2121Arg)
c.5990A>G (p.Gln1997Arg)
c.6146A>G (p.Gln2049Arg)
c.6353A>G (p.Gln2118Arg)
c.5654A>G (p.Gln1885Arg)
c.6401A>G (p.Gln2134Arg)
16g.3728640T>GCA394553457CREBBPc.6407A>C (p.Gln2136Pro)
c.6293A>C (p.Gln2098Pro)
c.6362A>C (p.Gln2121Pro)
c.5990A>C (p.Gln1997Pro)
c.6146A>C (p.Gln2049Pro)
c.6353A>C (p.Gln2118Pro)
c.5654A>C (p.Gln1885Pro)
c.6401A>C (p.Gln2134Pro)
16g.3728641G>ACA394553460CREBBPc.6406C>T (p.Gln2136Ter)
c.6292C>T (p.Gln2098Ter)
c.6361C>T (p.Gln2121Ter)
c.5989C>T (p.Gln1997Ter)
c.6145C>T (p.Gln2049Ter)
c.6352C>T (p.Gln2118Ter)
c.5653C>T (p.Gln1885Ter)
c.6400C>T (p.Gln2134Ter)
 dbSNP
16g.3728641G>CCA394553459CREBBPc.6406C>G (p.Gln2136Glu)
c.6292C>G (p.Gln2098Glu)
c.6361C>G (p.Gln2121Glu)
c.5989C>G (p.Gln1997Glu)
c.6145C>G (p.Gln2049Glu)
c.6352C>G (p.Gln2118Glu)
c.5653C>G (p.Gln1885Glu)
c.6400C>G (p.Gln2134Glu)
 dbSNP gnomAD v4
16g.3728641G>TCA394553458CREBBPc.6406C>A (p.Gln2136Lys)
c.6292C>A (p.Gln2098Lys)
c.6361C>A (p.Gln2121Lys)
c.5989C>A (p.Gln1997Lys)
c.6145C>A (p.Gln2049Lys)
c.6352C>A (p.Gln2118Lys)
c.5653C>A (p.Gln1885Lys)
c.6400C>A (p.Gln2134Lys)
 gnomAD v4
16g.3728642C>ACA394553461CREBBPc.6405G>T (p.Gln2135His)
c.6291G>T (p.Gln2097His)
c.6360G>T (p.Gln2120His)
c.5988G>T (p.Gln1996His)
c.6144G>T (p.Gln2048His)
c.6351G>T (p.Gln2117His)
c.5652G>T (p.Gln1884His)
c.6399G>T (p.Gln2133His)
 dbSNP
16g.3728642C>GCA394553462CREBBPc.6405G>C (p.Gln2135His)
c.6291G>C (p.Gln2097His)
c.6360G>C (p.Gln2120His)
c.5988G>C (p.Gln1996His)
c.6144G>C (p.Gln2048His)
c.6351G>C (p.Gln2117His)
c.5652G>C (p.Gln1884His)
c.6399G>C (p.Gln2133His)
 dbSNP
16g.3728642C>TCA493393519CREBBPc.6405G>A (p.Gln2135=)
c.6291G>A (p.Gln2097=)
c.6360G>A (p.Gln2120=)
c.5988G>A (p.Gln1996=)
c.6144G>A (p.Gln2048=)
c.6351G>A (p.Gln2117=)
c.5652G>A (p.Gln1884=)
c.6399G>A (p.Gln2133=)
 dbSNP
16g.3728642_3728643delinsCTCA2202928785CREBBPc.6404_6405delinsAG (p.Gln2135=)
c.6290_6291delinsAG (p.Gln2097=)
c.6359_6360delinsAG (p.Gln2120=)
c.5987_5988delinsAG (p.Gln1996=)
c.6143_6144delinsAG (p.Gln2048=)
c.6350_6351delinsAG (p.Gln2117=)
c.5651_5652delinsAG (p.Gln1884=)
c.6398_6399delinsAG (p.Gln2133=)
16g.3728643T>ACA394553463CREBBPc.6404A>T (p.Gln2135Leu)
c.6290A>T (p.Gln2097Leu)
c.6359A>T (p.Gln2120Leu)
c.5987A>T (p.Gln1996Leu)
c.6143A>T (p.Gln2048Leu)
c.6350A>T (p.Gln2117Leu)
c.5651A>T (p.Gln1884Leu)
c.6398A>T (p.Gln2133Leu)
16g.3728643T>CCA394553464CREBBPc.6404A>G (p.Gln2135Arg)
c.6290A>G (p.Gln2097Arg)
c.6359A>G (p.Gln2120Arg)
c.5987A>G (p.Gln1996Arg)
c.6143A>G (p.Gln2048Arg)
c.6350A>G (p.Gln2117Arg)
c.5651A>G (p.Gln1884Arg)
c.6398A>G (p.Gln2133Arg)
16g.3728643T>GCA394553465CREBBPc.6404A>C (p.Gln2135Pro)
c.6290A>C (p.Gln2097Pro)
c.6359A>C (p.Gln2120Pro)
c.5987A>C (p.Gln1996Pro)
c.6143A>C (p.Gln2048Pro)
c.6350A>C (p.Gln2117Pro)
c.5651A>C (p.Gln1884Pro)
c.6398A>C (p.Gln2133Pro)
 gnomAD v4
16g.3728643delinsGCACA1139664466CREBBPc.6404delinsTGC (p.Gln2135LeufsTer9)
c.6290delinsTGC (p.Gln2097LeufsTer9)
c.6359delinsTGC (p.Gln2120LeufsTer9)
c.5987delinsTGC (p.Gln1996LeufsTer9)
c.6143delinsTGC (p.Gln2048LeufsTer9)
c.6350delinsTGC (p.Gln2117LeufsTer9)
c.5651delinsTGC (p.Gln1884LeufsTer9)
c.6398delinsTGC (p.Gln2133LeufsTer9)
 ClinVar dbSNP
16g.3728644G>ACA394553466CREBBPc.6403C>T (p.Gln2135Ter)
c.6289C>T (p.Gln2097Ter)
c.6358C>T (p.Gln2120Ter)
c.5986C>T (p.Gln1996Ter)
c.6142C>T (p.Gln2048Ter)
c.6349C>T (p.Gln2117Ter)
c.5650C>T (p.Gln1884Ter)
c.6397C>T (p.Gln2133Ter)
 dbSNP
16g.3728644G>CCA394553467CREBBPc.6403C>G (p.Gln2135Glu)
c.6289C>G (p.Gln2097Glu)
c.6358C>G (p.Gln2120Glu)
c.5986C>G (p.Gln1996Glu)
c.6142C>G (p.Gln2048Glu)
c.6349C>G (p.Gln2117Glu)
c.5650C>G (p.Gln1884Glu)
c.6397C>G (p.Gln2133Glu)
 dbSNP
16g.3728644G>TCA394553468CREBBPc.6403C>A (p.Gln2135Lys)
c.6289C>A (p.Gln2097Lys)
c.6358C>A (p.Gln2120Lys)
c.5986C>A (p.Gln1996Lys)
c.6142C>A (p.Gln2048Lys)
c.6349C>A (p.Gln2117Lys)
c.5650C>A (p.Gln1884Lys)
c.6397C>A (p.Gln2133Lys)
 ClinVar dbSNP
16g.3728645_3728662dupCA2631402642CREBBPc.6386_6403dup (p.His2134_Gln2135insProGlnProGlyMetHis)
c.6272_6289dup (p.His2096_Gln2097insProGlnProGlyMetHis)
c.6341_6358dup (p.His2119_Gln2120insProGlnProGlyMetHis)
c.5969_5986dup (p.His1995_Gln1996insProGlnProGlyMetHis)
c.6125_6142dup (p.His2047_Gln2048insProGlnProGlyMetHis)
c.6332_6349dup (p.His2116_Gln2117insProGlnProGlyMetHis)
c.5633_5650dup (p.His1883_Gln1884insProGlnProGlyMetHis)
c.6380_6397dup (p.His2132_Gln2133insProGlnProGlyMetHis)
 gnomAD v4
16g.3728645G>ACA276971599CREBBPc.6402C>T (p.His2134=)
c.6288C>T (p.His2096=)
c.6357C>T (p.His2119=)
c.5985C>T (p.His1995=)
c.6141C>T (p.His2047=)
c.6348C>T (p.His2116=)
c.5649C>T (p.His1883=)
c.6396C>T (p.His2132=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728645G>CCA394553469CREBBPc.6402C>G (p.His2134Gln)
c.6288C>G (p.His2096Gln)
c.6357C>G (p.His2119Gln)
c.5985C>G (p.His1995Gln)
c.6141C>G (p.His2047Gln)
c.6348C>G (p.His2116Gln)
c.5649C>G (p.His1883Gln)
c.6396C>G (p.His2132Gln)
 ClinVar
16g.3728645G=CA2202928787CREBBPc.6402C= (p.His2134=)
c.6288C= (p.His2096=)
c.6357C= (p.His2119=)
c.5985C= (p.His1995=)
c.6141C= (p.His2047=)
c.6348C= (p.His2116=)
c.5649C= (p.His1883=)
c.6396C= (p.His2132=)
16g.3728645G>TCA394553470CREBBPc.6402C>A (p.His2134Gln)
c.6288C>A (p.His2096Gln)
c.6357C>A (p.His2119Gln)
c.5985C>A (p.His1995Gln)
c.6141C>A (p.His2047Gln)
c.6348C>A (p.His2116Gln)
c.5649C>A (p.His1883Gln)
c.6396C>A (p.His2132Gln)
16g.3728645_3728663delinsGTGCATGCCAGGCTGGGGTCA2202928786CREBBPc.6384_6402delinsACCCCAGCCTGGCATGCAC (p.Gln2128=)
c.6270_6288delinsACCCCAGCCTGGCATGCAC (p.Gln2090=)
c.6339_6357delinsACCCCAGCCTGGCATGCAC (p.Gln2113=)
c.5967_5985delinsACCCCAGCCTGGCATGCAC (p.Gln1989=)
c.6123_6141delinsACCCCAGCCTGGCATGCAC (p.Gln2041=)
c.6330_6348delinsACCCCAGCCTGGCATGCAC (p.Gln2110=)
c.5631_5649delinsACCCCAGCCTGGCATGCAC (p.Gln1877=)
c.6378_6396delinsACCCCAGCCTGGCATGCAC (p.Gln2126=)
16g.3728646T>ACA394553472CREBBPc.6401A>T (p.His2134Leu)
c.6287A>T (p.His2096Leu)
c.6356A>T (p.His2119Leu)
c.5984A>T (p.His1995Leu)
c.6140A>T (p.His2047Leu)
c.6347A>T (p.His2116Leu)
c.5648A>T (p.His1883Leu)
c.6395A>T (p.His2132Leu)
 dbSNP
16g.3728646T>CCA394553473CREBBPc.6401A>G (p.His2134Arg)
c.6287A>G (p.His2096Arg)
c.6356A>G (p.His2119Arg)
c.5984A>G (p.His1995Arg)
c.6140A>G (p.His2047Arg)
c.6347A>G (p.His2116Arg)
c.5648A>G (p.His1883Arg)
c.6395A>G (p.His2132Arg)
 dbSNP
16g.3728646T>GCA394553471CREBBPc.6401A>C (p.His2134Pro)
c.6287A>C (p.His2096Pro)
c.6356A>C (p.His2119Pro)
c.5984A>C (p.His1995Pro)
c.6140A>C (p.His2047Pro)
c.6347A>C (p.His2116Pro)
c.5648A>C (p.His1883Pro)
c.6395A>C (p.His2132Pro)
 dbSNP
16g.3728654_3728671dupCA7869121CREBBPc.6384_6401dup (p.Met2133_His2134insGlnProGlnProGlyMet)
c.6270_6287dup (p.Met2095_His2096insGlnProGlnProGlyMet)
c.6339_6356dup (p.Met2118_His2119insGlnProGlnProGlyMet)
c.5967_5984dup (p.Met1994_His1995insGlnProGlnProGlyMet)
c.6123_6140dup (p.Met2046_His2047insGlnProGlnProGlyMet)
c.6330_6347dup (p.Met2115_His2116insGlnProGlnProGlyMet)
c.5631_5648dup (p.Met1882_His1883insGlnProGlnProGlyMet)
c.6378_6395dup (p.Met2131_His2132insGlnProGlnProGlyMet)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728654_3728671delCA7869120CREBBPc.6384_6401del (p.Gln2128_Met2133del)
c.6270_6287del (p.Gln2090_Met2095del)
c.6339_6356del (p.Gln2113_Met2118del)
c.5967_5984del (p.Gln1989_Met1994del)
c.6123_6140del (p.Gln2041_Met2046del)
c.6330_6347del (p.Gln2110_Met2115del)
c.5631_5648del (p.Gln1877_Met1882del)
c.6378_6395del (p.Gln2126_Met2131del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728647G>ACA394553474CREBBPc.6400C>T (p.His2134Tyr)
c.6286C>T (p.His2096Tyr)
c.6355C>T (p.His2119Tyr)
c.5983C>T (p.His1995Tyr)
c.6139C>T (p.His2047Tyr)
c.6346C>T (p.His2116Tyr)
c.5647C>T (p.His1883Tyr)
c.6394C>T (p.His2132Tyr)
 dbSNP gnomAD v4
16g.3728647G>CCA394553475CREBBPc.6400C>G (p.His2134Asp)
c.6286C>G (p.His2096Asp)
c.6355C>G (p.His2119Asp)
c.5983C>G (p.His1995Asp)
c.6139C>G (p.His2047Asp)
c.6346C>G (p.His2116Asp)
c.5647C>G (p.His1883Asp)
c.6394C>G (p.His2132Asp)
16g.3728647G>TCA394553476CREBBPc.6400C>A (p.His2134Asn)
c.6286C>A (p.His2096Asn)
c.6355C>A (p.His2119Asn)
c.5983C>A (p.His1995Asn)
c.6139C>A (p.His2047Asn)
c.6346C>A (p.His2116Asn)
c.5647C>A (p.His1883Asn)
c.6394C>A (p.His2132Asn)
16g.3728648C>ACA394553479CREBBPc.6399G>T (p.Met2133Ile)
c.6285G>T (p.Met2095Ile)
c.6354G>T (p.Met2118Ile)
c.5982G>T (p.Met1994Ile)
c.6138G>T (p.Met2046Ile)
c.6345G>T (p.Met2115Ile)
c.5646G>T (p.Met1882Ile)
c.6393G>T (p.Met2131Ile)
16g.3728648C=CA2202928788CREBBPc.6399G= (p.Met2133=)
c.6285G= (p.Met2095=)
c.6354G= (p.Met2118=)
c.5982G= (p.Met1994=)
c.6138G= (p.Met2046=)
c.6345G= (p.Met2115=)
c.5646G= (p.Met1882=)
c.6393G= (p.Met2131=)
16g.3728648C>GCA394553478CREBBPc.6399G>C (p.Met2133Ile)
c.6285G>C (p.Met2095Ile)
c.6354G>C (p.Met2118Ile)
c.5982G>C (p.Met1994Ile)
c.6138G>C (p.Met2046Ile)
c.6345G>C (p.Met2115Ile)
c.5646G>C (p.Met1882Ile)
c.6393G>C (p.Met2131Ile)
 dbSNP
16g.3728648C>TCA394553477CREBBPc.6399G>A (p.Met2133Ile)
c.6285G>A (p.Met2095Ile)
c.6354G>A (p.Met2118Ile)
c.5982G>A (p.Met1994Ile)
c.6138G>A (p.Met2046Ile)
c.6345G>A (p.Met2115Ile)
c.5646G>A (p.Met1882Ile)
c.6393G>A (p.Met2131Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728649A=CA2202928789CREBBPc.6398T= (p.Met2133=)
c.6284T= (p.Met2095=)
c.6353T= (p.Met2118=)
c.5981T= (p.Met1994=)
c.6137T= (p.Met2046=)
c.6344T= (p.Met2115=)
c.5645T= (p.Met1882=)
c.6392T= (p.Met2131=)
16g.3728649A>CCA394553480CREBBPc.6398T>G (p.Met2133Arg)
c.6284T>G (p.Met2095Arg)
c.6353T>G (p.Met2118Arg)
c.5981T>G (p.Met1994Arg)
c.6137T>G (p.Met2046Arg)
c.6344T>G (p.Met2115Arg)
c.5645T>G (p.Met1882Arg)
c.6392T>G (p.Met2131Arg)
16g.3728649A>GCA394553481CREBBPc.6398T>C (p.Met2133Thr)
c.6284T>C (p.Met2095Thr)
c.6353T>C (p.Met2118Thr)
c.5981T>C (p.Met1994Thr)
c.6137T>C (p.Met2046Thr)
c.6344T>C (p.Met2115Thr)
c.5645T>C (p.Met1882Thr)
c.6392T>C (p.Met2131Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3728649A>TCA394553482CREBBPc.6398T>A (p.Met2133Lys)
c.6284T>A (p.Met2095Lys)
c.6353T>A (p.Met2118Lys)
c.5981T>A (p.Met1994Lys)
c.6137T>A (p.Met2046Lys)
c.6344T>A (p.Met2115Lys)
c.5645T>A (p.Met1882Lys)
c.6392T>A (p.Met2131Lys)
 dbSNP
16g.3728650T>ACA394553483CREBBPc.6397A>T (p.Met2133Leu)
c.6283A>T (p.Met2095Leu)
c.6352A>T (p.Met2118Leu)
c.5980A>T (p.Met1994Leu)
c.6136A>T (p.Met2046Leu)
c.6343A>T (p.Met2115Leu)
c.5644A>T (p.Met1882Leu)
c.6391A>T (p.Met2131Leu)
16g.3728650T>CCA394553484CREBBPc.6397A>G (p.Met2133Val)
c.6283A>G (p.Met2095Val)
c.6352A>G (p.Met2118Val)
c.5980A>G (p.Met1994Val)
c.6136A>G (p.Met2046Val)
c.6343A>G (p.Met2115Val)
c.5644A>G (p.Met1882Val)
c.6391A>G (p.Met2131Val)
 dbSNP gnomAD v4
16g.3728650T>GCA394553485CREBBPc.6397A>C (p.Met2133Leu)
c.6283A>C (p.Met2095Leu)
c.6352A>C (p.Met2118Leu)
c.5980A>C (p.Met1994Leu)
c.6136A>C (p.Met2046Leu)
c.6343A>C (p.Met2115Leu)
c.5644A>C (p.Met1882Leu)
c.6391A>C (p.Met2131Leu)
16g.3728650T=CA2202928791CREBBPc.6397A= (p.Met2133=)
c.6283A= (p.Met2095=)
c.6352A= (p.Met2118=)
c.5980A= (p.Met1994=)
c.6136A= (p.Met2046=)
c.6343A= (p.Met2115=)
c.5644A= (p.Met1882=)
c.6391A= (p.Met2131=)
16g.3728650_3728686delinsTGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGCA2202928790CREBBPc.6361_6397delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2121=)
c.6247_6283delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2083=)
c.6316_6352delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2106=)
c.5944_5980delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu1982=)
c.6100_6136delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2034=)
c.6307_6343delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2103=)
c.5608_5644delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu1870=)
c.6355_6391delinsCTCCAGTCCCAGCCCGGCATGCAACCCCAGCCTGGCA (p.Leu2119=)
16g.3728651G>ACA493393526CREBBPc.6396C>T (p.Gly2132=)
c.6282C>T (p.Gly2094=)
c.6351C>T (p.Gly2117=)
c.5979C>T (p.Gly1993=)
c.6135C>T (p.Gly2045=)
c.6342C>T (p.Gly2114=)
c.5643C>T (p.Gly1881=)
c.6390C>T (p.Gly2130=)
 dbSNP
16g.3728651G>CCA493393527CREBBPc.6396C>G (p.Gly2132=)
c.6282C>G (p.Gly2094=)
c.6351C>G (p.Gly2117=)
c.5979C>G (p.Gly1993=)
c.6135C>G (p.Gly2045=)
c.6342C>G (p.Gly2114=)
c.5643C>G (p.Gly1881=)
c.6390C>G (p.Gly2130=)
16g.3728651G=CA2202928792CREBBPc.6396C= (p.Gly2132=)
c.6282C= (p.Gly2094=)
c.6351C= (p.Gly2117=)
c.5979C= (p.Gly1993=)
c.6135C= (p.Gly2045=)
c.6342C= (p.Gly2114=)
c.5643C= (p.Gly1881=)
c.6390C= (p.Gly2130=)
16g.3728651G>TCA493393528CREBBPc.6396C>A (p.Gly2132=)
c.6282C>A (p.Gly2094=)
c.6351C>A (p.Gly2117=)
c.5979C>A (p.Gly1993=)
c.6135C>A (p.Gly2045=)
c.6342C>A (p.Gly2114=)
c.5643C>A (p.Gly1881=)
c.6390C>A (p.Gly2130=)
16g.3728663_3728698delCA7869122CREBBPc.6361_6396del (p.Leu2121_Gly2132del)
c.6247_6282del (p.Leu2083_Gly2094del)
c.6316_6351del (p.Leu2106_Gly2117del)
c.5944_5979del (p.Leu1982_Gly1993del)
c.6100_6135del (p.Leu2034_Gly2045del)
c.6307_6342del (p.Leu2103_Gly2114del)
c.5608_5643del (p.Leu1870_Gly1881del)
c.6355_6390del (p.Leu2119_Gly2130del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728652C>ACA394553487CREBBPc.6395G>T (p.Gly2132Val)
c.6281G>T (p.Gly2094Val)
c.6350G>T (p.Gly2117Val)
c.5978G>T (p.Gly1993Val)
c.6134G>T (p.Gly2045Val)
c.6341G>T (p.Gly2114Val)
c.5642G>T (p.Gly1881Val)
c.6389G>T (p.Gly2130Val)
 dbSNP
16g.3728652C=CA2202928793CREBBPc.6395G= (p.Gly2132=)
c.6281G= (p.Gly2094=)
c.6350G= (p.Gly2117=)
c.5978G= (p.Gly1993=)
c.6134G= (p.Gly2045=)
c.6341G= (p.Gly2114=)
c.5642G= (p.Gly1881=)
c.6389G= (p.Gly2130=)
16g.3728652C>GCA394553488CREBBPc.6395G>C (p.Gly2132Ala)
c.6281G>C (p.Gly2094Ala)
c.6350G>C (p.Gly2117Ala)
c.5978G>C (p.Gly1993Ala)
c.6134G>C (p.Gly2045Ala)
c.6341G>C (p.Gly2114Ala)
c.5642G>C (p.Gly1881Ala)
c.6389G>C (p.Gly2130Ala)
 dbSNP
16g.3728652C>TCA394553486CREBBPc.6395G>A (p.Gly2132Asp)
c.6281G>A (p.Gly2094Asp)
c.6350G>A (p.Gly2117Asp)
c.5978G>A (p.Gly1993Asp)
c.6134G>A (p.Gly2045Asp)
c.6341G>A (p.Gly2114Asp)
c.5642G>A (p.Gly1881Asp)
c.6389G>A (p.Gly2130Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.3728653C>ACA394553489CREBBPc.6394G>T (p.Gly2132Cys)
c.6280G>T (p.Gly2094Cys)
c.6349G>T (p.Gly2117Cys)
c.5977G>T (p.Gly1993Cys)
c.6133G>T (p.Gly2045Cys)
c.6340G>T (p.Gly2114Cys)
c.5641G>T (p.Gly1881Cys)
c.6388G>T (p.Gly2130Cys)
 dbSNP
16g.3728653C>GCA394553491CREBBPc.6394G>C (p.Gly2132Arg)
c.6280G>C (p.Gly2094Arg)
c.6349G>C (p.Gly2117Arg)
c.5977G>C (p.Gly1993Arg)
c.6133G>C (p.Gly2045Arg)
c.6340G>C (p.Gly2114Arg)
c.5641G>C (p.Gly1881Arg)
c.6388G>C (p.Gly2130Arg)
 dbSNP
16g.3728653C>TCA394553490CREBBPc.6394G>A (p.Gly2132Ser)
c.6280G>A (p.Gly2094Ser)
c.6349G>A (p.Gly2117Ser)
c.5977G>A (p.Gly1993Ser)
c.6133G>A (p.Gly2045Ser)
c.6340G>A (p.Gly2114Ser)
c.5641G>A (p.Gly1881Ser)
c.6388G>A (p.Gly2130Ser)
 dbSNP gnomAD v4
16g.3728654A=CA2202928794CREBBPc.6393T= (p.Pro2131=)
c.6279T= (p.Pro2093=)
c.6348T= (p.Pro2116=)
c.5976T= (p.Pro1992=)
c.6132T= (p.Pro2044=)
c.6339T= (p.Pro2113=)
c.5640T= (p.Pro1880=)
c.6387T= (p.Pro2129=)
16g.3728654A>CCA493393532CREBBPc.6393T>G (p.Pro2131=)
c.6279T>G (p.Pro2093=)
c.6348T>G (p.Pro2116=)
c.5976T>G (p.Pro1992=)
c.6132T>G (p.Pro2044=)
c.6339T>G (p.Pro2113=)
c.5640T>G (p.Pro1880=)
c.6387T>G (p.Pro2129=)
16g.3728654A>GCA493393534CREBBPc.6393T>C (p.Pro2131=)
c.6279T>C (p.Pro2093=)
c.6348T>C (p.Pro2116=)
c.5976T>C (p.Pro1992=)
c.6132T>C (p.Pro2044=)
c.6339T>C (p.Pro2113=)
c.5640T>C (p.Pro1880=)
c.6387T>C (p.Pro2129=)
 dbSNP gnomAD v4
16g.3728654A>TCA493393533CREBBPc.6393T>A (p.Pro2131=)
c.6279T>A (p.Pro2093=)
c.6348T>A (p.Pro2116=)
c.5976T>A (p.Pro1992=)
c.6132T>A (p.Pro2044=)
c.6339T>A (p.Pro2113=)
c.5640T>A (p.Pro1880=)
c.6387T>A (p.Pro2129=)
 dbSNP
16g.3728655G>ACA394553492CREBBPc.6392C>T (p.Pro2131Leu)
c.6278C>T (p.Pro2093Leu)
c.6347C>T (p.Pro2116Leu)
c.5975C>T (p.Pro1992Leu)
c.6131C>T (p.Pro2044Leu)
c.6338C>T (p.Pro2113Leu)
c.5639C>T (p.Pro1880Leu)
c.6386C>T (p.Pro2129Leu)
 dbSNP gnomAD v4
16g.3728655G>CCA394553494CREBBPc.6392C>G (p.Pro2131Arg)
c.6278C>G (p.Pro2093Arg)
c.6347C>G (p.Pro2116Arg)
c.5975C>G (p.Pro1992Arg)
c.6131C>G (p.Pro2044Arg)
c.6338C>G (p.Pro2113Arg)
c.5639C>G (p.Pro1880Arg)
c.6386C>G (p.Pro2129Arg)
 dbSNP
16g.3728655G=CA2202928795CREBBPc.6392C= (p.Pro2131=)
c.6278C= (p.Pro2093=)
c.6347C= (p.Pro2116=)
c.5975C= (p.Pro1992=)
c.6131C= (p.Pro2044=)
c.6338C= (p.Pro2113=)
c.5639C= (p.Pro1880=)
c.6386C= (p.Pro2129=)
16g.3728655G>TCA394553493CREBBPc.6392C>A (p.Pro2131His)
c.6278C>A (p.Pro2093His)
c.6347C>A (p.Pro2116His)
c.5975C>A (p.Pro1992His)
c.6131C>A (p.Pro2044His)
c.6338C>A (p.Pro2113His)
c.5639C>A (p.Pro1880His)
c.6386C>A (p.Pro2129His)
 dbSNP
16g.3728662_3728679dupCA2580612710CREBBPc.6375_6392dup (p.Pro2131_Gly2132insGlyMetGlnProGlnPro)
c.6261_6278dup (p.Pro2093_Gly2094insGlyMetGlnProGlnPro)
c.6330_6347dup (p.Pro2116_Gly2117insGlyMetGlnProGlnPro)
c.5958_5975dup (p.Pro1992_Gly1993insGlyMetGlnProGlnPro)
c.6114_6131dup (p.Pro2044_Gly2045insGlyMetGlnProGlnPro)
c.6321_6338dup (p.Pro2113_Gly2114insGlyMetGlnProGlnPro)
c.5622_5639dup (p.Pro1880_Gly1881insGlyMetGlnProGlnPro)
c.6369_6386dup (p.Pro2129_Gly2130insGlyMetGlnProGlnPro)
 ClinVar
16g.3728662_3728679delCA2631402707CREBBPc.6375_6392del (p.Gly2126_Pro2131del)
c.6261_6278del (p.Gly2088_Pro2093del)
c.6330_6347del (p.Gly2111_Pro2116del)
c.5958_5975del (p.Gly1987_Pro1992del)
c.6114_6131del (p.Gly2039_Pro2044del)
c.6321_6338del (p.Gly2108_Pro2113del)
c.5622_5639del (p.Gly1875_Pro1880del)
c.6369_6386del (p.Gly2124_Pro2129del)
 gnomAD v4
16g.3728656G>ACA7869123CREBBPc.6391C>T (p.Pro2131Ser)
c.6277C>T (p.Pro2093Ser)
c.6346C>T (p.Pro2116Ser)
c.5974C>T (p.Pro1992Ser)
c.6130C>T (p.Pro2044Ser)
c.6337C>T (p.Pro2113Ser)
c.5638C>T (p.Pro1880Ser)
c.6385C>T (p.Pro2129Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728656G>CCA394553495CREBBPc.6391C>G (p.Pro2131Ala)
c.6277C>G (p.Pro2093Ala)
c.6346C>G (p.Pro2116Ala)
c.5974C>G (p.Pro1992Ala)
c.6130C>G (p.Pro2044Ala)
c.6337C>G (p.Pro2113Ala)
c.5638C>G (p.Pro1880Ala)
c.6385C>G (p.Pro2129Ala)
 dbSNP gnomAD v4
16g.3728656G=CA2202928796CREBBPc.6391C= (p.Pro2131=)
c.6277C= (p.Pro2093=)
c.6346C= (p.Pro2116=)
c.5974C= (p.Pro1992=)
c.6130C= (p.Pro2044=)
c.6337C= (p.Pro2113=)
c.5638C= (p.Pro1880=)
c.6385C= (p.Pro2129=)
16g.3728656G>TCA394553496CREBBPc.6391C>A (p.Pro2131Thr)
c.6277C>A (p.Pro2093Thr)
c.6346C>A (p.Pro2116Thr)
c.5974C>A (p.Pro1992Thr)
c.6130C>A (p.Pro2044Thr)
c.6337C>A (p.Pro2113Thr)
c.5638C>A (p.Pro1880Thr)
c.6385C>A (p.Pro2129Thr)
16g.3728657C>ACA394553497CREBBPc.6390G>T (p.Gln2130His)
c.6276G>T (p.Gln2092His)
c.6345G>T (p.Gln2115His)
c.5973G>T (p.Gln1991His)
c.6129G>T (p.Gln2043His)
c.6336G>T (p.Gln2112His)
c.5637G>T (p.Gln1879His)
c.6384G>T (p.Gln2128His)
 dbSNP gnomAD v4
16g.3728657C=CA2202928797CREBBPc.6390G= (p.Gln2130=)
c.6276G= (p.Gln2092=)
c.6345G= (p.Gln2115=)
c.5973G= (p.Gln1991=)
c.6129G= (p.Gln2043=)
c.6336G= (p.Gln2112=)
c.5637G= (p.Gln1879=)
c.6384G= (p.Gln2128=)
16g.3728657C>GCA394553498CREBBPc.6390G>C (p.Gln2130His)
c.6276G>C (p.Gln2092His)
c.6345G>C (p.Gln2115His)
c.5973G>C (p.Gln1991His)
c.6129G>C (p.Gln2043His)
c.6336G>C (p.Gln2112His)
c.5637G>C (p.Gln1879His)
c.6384G>C (p.Gln2128His)
 ClinVar dbSNP
16g.3728657C>TCA493393541CREBBPc.6390G>A (p.Gln2130=)
c.6276G>A (p.Gln2092=)
c.6345G>A (p.Gln2115=)
c.5973G>A (p.Gln1991=)
c.6129G>A (p.Gln2043=)
c.6336G>A (p.Gln2112=)
c.5637G>A (p.Gln1879=)
c.6384G>A (p.Gln2128=)
 dbSNP gnomAD v4
16g.3728658T>ACA7869125CREBBPc.6389A>T (p.Gln2130Leu)
c.6275A>T (p.Gln2092Leu)
c.6344A>T (p.Gln2115Leu)
c.5972A>T (p.Gln1991Leu)
c.6128A>T (p.Gln2043Leu)
c.6335A>T (p.Gln2112Leu)
c.5636A>T (p.Gln1879Leu)
c.6383A>T (p.Gln2128Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728658T>CCA7869124CREBBPc.6389A>G (p.Gln2130Arg)
c.6275A>G (p.Gln2092Arg)
c.6344A>G (p.Gln2115Arg)
c.5972A>G (p.Gln1991Arg)
c.6128A>G (p.Gln2043Arg)
c.6335A>G (p.Gln2112Arg)
c.5636A>G (p.Gln1879Arg)
c.6383A>G (p.Gln2128Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728658T>GCA394553499CREBBPc.6389A>C (p.Gln2130Pro)
c.6275A>C (p.Gln2092Pro)
c.6344A>C (p.Gln2115Pro)
c.5972A>C (p.Gln1991Pro)
c.6128A>C (p.Gln2043Pro)
c.6335A>C (p.Gln2112Pro)
c.5636A>C (p.Gln1879Pro)
c.6383A>C (p.Gln2128Pro)
16g.3728658T=CA2202928798CREBBPc.6389A= (p.Gln2130=)
c.6275A= (p.Gln2092=)
c.6344A= (p.Gln2115=)
c.5972A= (p.Gln1991=)
c.6128A= (p.Gln2043=)
c.6335A= (p.Gln2112=)
c.5636A= (p.Gln1879=)
c.6383A= (p.Gln2128=)
16g.3728659G>ACA394553500CREBBPc.6388C>T (p.Gln2130Ter)
c.6274C>T (p.Gln2092Ter)
c.6343C>T (p.Gln2115Ter)
c.5971C>T (p.Gln1991Ter)
c.6127C>T (p.Gln2043Ter)
c.6334C>T (p.Gln2112Ter)
c.5635C>T (p.Gln1879Ter)
c.6382C>T (p.Gln2128Ter)
 ClinVar dbSNP
16g.3728659G>CCA394553501CREBBPc.6388C>G (p.Gln2130Glu)
c.6274C>G (p.Gln2092Glu)
c.6343C>G (p.Gln2115Glu)
c.5971C>G (p.Gln1991Glu)
c.6127C>G (p.Gln2043Glu)
c.6334C>G (p.Gln2112Glu)
c.5635C>G (p.Gln1879Glu)
c.6382C>G (p.Gln2128Glu)
16g.3728659G>TCA394553502CREBBPc.6388C>A (p.Gln2130Lys)
c.6274C>A (p.Gln2092Lys)
c.6343C>A (p.Gln2115Lys)
c.5971C>A (p.Gln1991Lys)
c.6127C>A (p.Gln2043Lys)
c.6334C>A (p.Gln2112Lys)
c.5635C>A (p.Gln1879Lys)
c.6382C>A (p.Gln2128Lys)
16g.3728660G>ACA493393551CREBBPc.6387C>T (p.Pro2129=)
c.6273C>T (p.Pro2091=)
c.6342C>T (p.Pro2114=)
c.5970C>T (p.Pro1990=)
c.6126C>T (p.Pro2042=)
c.6333C>T (p.Pro2111=)
c.5634C>T (p.Pro1878=)
c.6381C>T (p.Pro2127=)
 dbSNP
16g.3728660G>CCA493393549CREBBPc.6387C>G (p.Pro2129=)
c.6273C>G (p.Pro2091=)
c.6342C>G (p.Pro2114=)
c.5970C>G (p.Pro1990=)
c.6126C>G (p.Pro2042=)
c.6333C>G (p.Pro2111=)
c.5634C>G (p.Pro1878=)
c.6381C>G (p.Pro2127=)
 dbSNP
16g.3728660G=CA2202928799CREBBPc.6387C= (p.Pro2129=)
c.6273C= (p.Pro2091=)
c.6342C= (p.Pro2114=)
c.5970C= (p.Pro1990=)
c.6126C= (p.Pro2042=)
c.6333C= (p.Pro2111=)
c.5634C= (p.Pro1878=)
c.6381C= (p.Pro2127=)
16g.3728660G>TCA493393550CREBBPc.6387C>A (p.Pro2129=)
c.6273C>A (p.Pro2091=)
c.6342C>A (p.Pro2114=)
c.5970C>A (p.Pro1990=)
c.6126C>A (p.Pro2042=)
c.6333C>A (p.Pro2111=)
c.5634C>A (p.Pro1878=)
c.6381C>A (p.Pro2127=)
 dbSNP gnomAD v3 gnomAD v4
16g.3728661G>ACA394553505CREBBPc.6386C>T (p.Pro2129Leu)
c.6272C>T (p.Pro2091Leu)
c.6341C>T (p.Pro2114Leu)
c.5969C>T (p.Pro1990Leu)
c.6125C>T (p.Pro2042Leu)
c.6332C>T (p.Pro2111Leu)
c.5633C>T (p.Pro1878Leu)
c.6380C>T (p.Pro2127Leu)
 dbSNP
16g.3728661G>CCA394553503CREBBPc.6386C>G (p.Pro2129Arg)
c.6272C>G (p.Pro2091Arg)
c.6341C>G (p.Pro2114Arg)
c.5969C>G (p.Pro1990Arg)
c.6125C>G (p.Pro2042Arg)
c.6332C>G (p.Pro2111Arg)
c.5633C>G (p.Pro1878Arg)
c.6380C>G (p.Pro2127Arg)
16g.3728661G>TCA394553504CREBBPc.6386C>A (p.Pro2129His)
c.6272C>A (p.Pro2091His)
c.6341C>A (p.Pro2114His)
c.5969C>A (p.Pro1990His)
c.6125C>A (p.Pro2042His)
c.6332C>A (p.Pro2111His)
c.5633C>A (p.Pro1878His)
c.6380C>A (p.Pro2127His)
 dbSNP
16g.3728662G>ACA394553506CREBBPc.6385C>T (p.Pro2129Ser)
c.6271C>T (p.Pro2091Ser)
c.6340C>T (p.Pro2114Ser)
c.5968C>T (p.Pro1990Ser)
c.6124C>T (p.Pro2042Ser)
c.6331C>T (p.Pro2111Ser)
c.5632C>T (p.Pro1878Ser)
c.6379C>T (p.Pro2127Ser)
16g.3728662G>CCA394553507CREBBPc.6385C>G (p.Pro2129Ala)
c.6271C>G (p.Pro2091Ala)
c.6340C>G (p.Pro2114Ala)
c.5968C>G (p.Pro1990Ala)
c.6124C>G (p.Pro2042Ala)
c.6331C>G (p.Pro2111Ala)
c.5632C>G (p.Pro1878Ala)
c.6379C>G (p.Pro2127Ala)
16g.3728662G>TCA394553508CREBBPc.6385C>A (p.Pro2129Thr)
c.6271C>A (p.Pro2091Thr)
c.6340C>A (p.Pro2114Thr)
c.5968C>A (p.Pro1990Thr)
c.6124C>A (p.Pro2042Thr)
c.6331C>A (p.Pro2111Thr)
c.5632C>A (p.Pro1878Thr)
c.6379C>A (p.Pro2127Thr)
16g.3728663T>ACA394553509CREBBPc.6384A>T (p.Gln2128His)
c.6270A>T (p.Gln2090His)
c.6339A>T (p.Gln2113His)
c.5967A>T (p.Gln1989His)
c.6123A>T (p.Gln2041His)
c.6330A>T (p.Gln2110His)
c.5631A>T (p.Gln1877His)
c.6378A>T (p.Gln2126His)
 dbSNP
16g.3728663T>CCA493393553CREBBPc.6384A>G (p.Gln2128=)
c.6270A>G (p.Gln2090=)
c.6339A>G (p.Gln2113=)
c.5967A>G (p.Gln1989=)
c.6123A>G (p.Gln2041=)
c.6330A>G (p.Gln2110=)
c.5631A>G (p.Gln1877=)
c.6378A>G (p.Gln2126=)
 dbSNP
16g.3728663T>GCA394553510CREBBPc.6384A>C (p.Gln2128His)
c.6270A>C (p.Gln2090His)
c.6339A>C (p.Gln2113His)
c.5967A>C (p.Gln1989His)
c.6123A>C (p.Gln2041His)
c.6330A>C (p.Gln2110His)
c.5631A>C (p.Gln1877His)
c.6378A>C (p.Gln2126His)
 dbSNP
16g.3728663T=CA2202928800CREBBPc.6384A= (p.Gln2128=)
c.6270A= (p.Gln2090=)
c.6339A= (p.Gln2113=)
c.5967A= (p.Gln1989=)
c.6123A= (p.Gln2041=)
c.6330A= (p.Gln2110=)
c.5631A= (p.Gln1877=)
c.6378A= (p.Gln2126=)
16g.3728663_3728699delinsTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCCA2202928801CREBBPc.6348_6384delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2116=)
c.6234_6270delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2078=)
c.6303_6339delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2101=)
c.5931_5967delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln1977=)
c.6087_6123delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2029=)
c.6294_6330delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2098=)
c.5595_5631delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln1865=)
c.6342_6378delinsGCCCCAGCCTGGCCTCCAGTCCCAGCCCGGCATGCAA (p.Gln2114=)
16g.3728664T>ACA394553511CREBBPc.6383A>T (p.Gln2128Leu)
c.6269A>T (p.Gln2090Leu)
c.6338A>T (p.Gln2113Leu)
c.5966A>T (p.Gln1989Leu)
c.6122A>T (p.Gln2041Leu)
c.6329A>T (p.Gln2110Leu)
c.5630A>T (p.Gln1877Leu)
c.6377A>T (p.Gln2126Leu)
 dbSNP
16g.3728664T>CCA394553512CREBBPc.6383A>G (p.Gln2128Arg)
c.6269A>G (p.Gln2090Arg)
c.6338A>G (p.Gln2113Arg)
c.5966A>G (p.Gln1989Arg)
c.6122A>G (p.Gln2041Arg)
c.6329A>G (p.Gln2110Arg)
c.5630A>G (p.Gln1877Arg)
c.6377A>G (p.Gln2126Arg)
16g.3728664T>GCA394553513CREBBPc.6383A>C (p.Gln2128Pro)
c.6269A>C (p.Gln2090Pro)
c.6338A>C (p.Gln2113Pro)
c.5966A>C (p.Gln1989Pro)
c.6122A>C (p.Gln2041Pro)
c.6329A>C (p.Gln2110Pro)
c.5630A>C (p.Gln1877Pro)
c.6377A>C (p.Gln2126Pro)
 dbSNP gnomAD v4
16g.3728678_3728713dupCA973904133CREBBPc.6348_6383dup (p.Gln2128_Pro2129insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.6234_6269dup (p.Gln2090_Pro2091insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.6303_6338dup (p.Gln2113_Pro2114insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.5931_5966dup (p.Gln1989_Pro1990insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.6087_6122dup (p.Gln2041_Pro2042insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.6294_6329dup (p.Gln2110_Pro2111insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.5595_5630dup (p.Gln1877_Pro1878insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
c.6342_6377dup (p.Gln2126_Pro2127insProGlnProGlyLeuGlnSerGlnProGlyMetGln)
 ClinVar dbSNP gnomAD v4
16g.3728678_3728713delCA7869126CREBBPc.6348_6383del (p.Pro2117_Gln2128del)
c.6234_6269del (p.Pro2079_Gln2090del)
c.6303_6338del (p.Pro2102_Gln2113del)
c.5931_5966del (p.Pro1978_Gln1989del)
c.6087_6122del (p.Pro2030_Gln2041del)
c.6294_6329del (p.Pro2099_Gln2110del)
c.5595_5630del (p.Pro1866_Gln1877del)
c.6342_6377del (p.Pro2115_Gln2126del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728665G>ACA394553516CREBBPc.6382C>T (p.Gln2128Ter)
c.6268C>T (p.Gln2090Ter)
c.6337C>T (p.Gln2113Ter)
c.5965C>T (p.Gln1989Ter)
c.6121C>T (p.Gln2041Ter)
c.6328C>T (p.Gln2110Ter)
c.5629C>T (p.Gln1877Ter)
c.6376C>T (p.Gln2126Ter)
 dbSNP
16g.3728665G>CCA394553515CREBBPc.6382C>G (p.Gln2128Glu)
c.6268C>G (p.Gln2090Glu)
c.6337C>G (p.Gln2113Glu)
c.5965C>G (p.Gln1989Glu)
c.6121C>G (p.Gln2041Glu)
c.6328C>G (p.Gln2110Glu)
c.5629C>G (p.Gln1877Glu)
c.6376C>G (p.Gln2126Glu)
 dbSNP
16g.3728665G>TCA394553514CREBBPc.6382C>A (p.Gln2128Lys)
c.6268C>A (p.Gln2090Lys)
c.6337C>A (p.Gln2113Lys)
c.5965C>A (p.Gln1989Lys)
c.6121C>A (p.Gln2041Lys)
c.6328C>A (p.Gln2110Lys)
c.5629C>A (p.Gln1877Lys)
c.6376C>A (p.Gln2126Lys)
16g.3728666C>ACA394553517CREBBPc.6381G>T (p.Met2127Ile)
c.6267G>T (p.Met2089Ile)
c.6336G>T (p.Met2112Ile)
c.5964G>T (p.Met1988Ile)
c.6120G>T (p.Met2040Ile)
c.6327G>T (p.Met2109Ile)
c.5628G>T (p.Met1876Ile)
c.6375G>T (p.Met2125Ile)
16g.3728666C=CA2202928802CREBBPc.6381G= (p.Met2127=)
c.6267G= (p.Met2089=)
c.6336G= (p.Met2112=)
c.5964G= (p.Met1988=)
c.6120G= (p.Met2040=)
c.6327G= (p.Met2109=)
c.5628G= (p.Met1876=)
c.6375G= (p.Met2125=)
16g.3728666C>GCA394553518CREBBPc.6381G>C (p.Met2127Ile)
c.6267G>C (p.Met2089Ile)
c.6336G>C (p.Met2112Ile)
c.5964G>C (p.Met1988Ile)
c.6120G>C (p.Met2040Ile)
c.6327G>C (p.Met2109Ile)
c.5628G>C (p.Met1876Ile)
c.6375G>C (p.Met2125Ile)
 dbSNP
16g.3728666C>TCA394553519CREBBPc.6381G>A (p.Met2127Ile)
c.6267G>A (p.Met2089Ile)
c.6336G>A (p.Met2112Ile)
c.5964G>A (p.Met1988Ile)
c.6120G>A (p.Met2040Ile)
c.6327G>A (p.Met2109Ile)
c.5628G>A (p.Met1876Ile)
c.6375G>A (p.Met2125Ile)
 dbSNP
16g.3728667A>CCA394553520CREBBPc.6380T>G (p.Met2127Arg)
c.6266T>G (p.Met2089Arg)
c.6335T>G (p.Met2112Arg)
c.5963T>G (p.Met1988Arg)
c.6119T>G (p.Met2040Arg)
c.6326T>G (p.Met2109Arg)
c.5627T>G (p.Met1876Arg)
c.6374T>G (p.Met2125Arg)
16g.3728667A>GCA394553521CREBBPc.6380T>C (p.Met2127Thr)
c.6266T>C (p.Met2089Thr)
c.6335T>C (p.Met2112Thr)
c.5963T>C (p.Met1988Thr)
c.6119T>C (p.Met2040Thr)
c.6326T>C (p.Met2109Thr)
c.5627T>C (p.Met1876Thr)
c.6374T>C (p.Met2125Thr)
 gnomAD v4
16g.3728667A>TCA394553522CREBBPc.6380T>A (p.Met2127Lys)
c.6266T>A (p.Met2089Lys)
c.6335T>A (p.Met2112Lys)
c.5963T>A (p.Met1988Lys)
c.6119T>A (p.Met2040Lys)
c.6326T>A (p.Met2109Lys)
c.5627T>A (p.Met1876Lys)
c.6374T>A (p.Met2125Lys)
 dbSNP
16g.3728668T>ACA394553523CREBBPc.6379A>T (p.Met2127Leu)
c.6265A>T (p.Met2089Leu)
c.6334A>T (p.Met2112Leu)
c.5962A>T (p.Met1988Leu)
c.6118A>T (p.Met2040Leu)
c.6325A>T (p.Met2109Leu)
c.5626A>T (p.Met1876Leu)
c.6373A>T (p.Met2125Leu)
16g.3728668T>CCA394553524CREBBPc.6379A>G (p.Met2127Val)
c.6265A>G (p.Met2089Val)
c.6334A>G (p.Met2112Val)
c.5962A>G (p.Met1988Val)
c.6118A>G (p.Met2040Val)
c.6325A>G (p.Met2109Val)
c.5626A>G (p.Met1876Val)
c.6373A>G (p.Met2125Val)
16g.3728668T>GCA394553525CREBBPc.6379A>C (p.Met2127Leu)
c.6265A>C (p.Met2089Leu)
c.6334A>C (p.Met2112Leu)
c.5962A>C (p.Met1988Leu)
c.6118A>C (p.Met2040Leu)
c.6325A>C (p.Met2109Leu)
c.5626A>C (p.Met1876Leu)
c.6373A>C (p.Met2125Leu)
 gnomAD v4
16g.3728669G>ACA493393563CREBBPc.6378C>T (p.Gly2126=)
c.6264C>T (p.Gly2088=)
c.6333C>T (p.Gly2111=)
c.5961C>T (p.Gly1987=)
c.6117C>T (p.Gly2039=)
c.6324C>T (p.Gly2108=)
c.5625C>T (p.Gly1875=)
c.6372C>T (p.Gly2124=)
 dbSNP gnomAD v4
16g.3728669G>CCA493393561CREBBPc.6378C>G (p.Gly2126=)
c.6264C>G (p.Gly2088=)
c.6333C>G (p.Gly2111=)
c.5961C>G (p.Gly1987=)
c.6117C>G (p.Gly2039=)
c.6324C>G (p.Gly2108=)
c.5625C>G (p.Gly1875=)
c.6372C>G (p.Gly2124=)
16g.3728669G=CA2202928803CREBBPc.6378C= (p.Gly2126=)
c.6264C= (p.Gly2088=)
c.6333C= (p.Gly2111=)
c.5961C= (p.Gly1987=)
c.6117C= (p.Gly2039=)
c.6324C= (p.Gly2108=)
c.5625C= (p.Gly1875=)
c.6372C= (p.Gly2124=)
16g.3728669G>TCA493393562CREBBPc.6378C>A (p.Gly2126=)
c.6264C>A (p.Gly2088=)
c.6333C>A (p.Gly2111=)
c.5961C>A (p.Gly1987=)
c.6117C>A (p.Gly2039=)
c.6324C>A (p.Gly2108=)
c.5625C>A (p.Gly1875=)
c.6372C>A (p.Gly2124=)
 ClinVar
16g.3728670C>ACA394553526CREBBPc.6377G>T (p.Gly2126Val)
c.6263G>T (p.Gly2088Val)
c.6332G>T (p.Gly2111Val)
c.5960G>T (p.Gly1987Val)
c.6116G>T (p.Gly2039Val)
c.6323G>T (p.Gly2108Val)
c.5624G>T (p.Gly1875Val)
c.6371G>T (p.Gly2124Val)
 dbSNP
16g.3728670C=CA2202928804CREBBPc.6377G= (p.Gly2126=)
c.6263G= (p.Gly2088=)
c.6332G= (p.Gly2111=)
c.5960G= (p.Gly1987=)
c.6116G= (p.Gly2039=)
c.6323G= (p.Gly2108=)
c.5624G= (p.Gly1875=)
c.6371G= (p.Gly2124=)
16g.3728670C>GCA394553527CREBBPc.6377G>C (p.Gly2126Ala)
c.6263G>C (p.Gly2088Ala)
c.6332G>C (p.Gly2111Ala)
c.5960G>C (p.Gly1987Ala)
c.6116G>C (p.Gly2039Ala)
c.6323G>C (p.Gly2108Ala)
c.5624G>C (p.Gly1875Ala)
c.6371G>C (p.Gly2124Ala)
 dbSNP
16g.3728670C>TCA394553528CREBBPc.6377G>A (p.Gly2126Asp)
c.6263G>A (p.Gly2088Asp)
c.6332G>A (p.Gly2111Asp)
c.5960G>A (p.Gly1987Asp)
c.6116G>A (p.Gly2039Asp)
c.6323G>A (p.Gly2108Asp)
c.5624G>A (p.Gly1875Asp)
c.6371G>A (p.Gly2124Asp)
 dbSNP
16g.3728671C>ACA7869128CREBBPc.6376G>T (p.Gly2126Cys)
c.6262G>T (p.Gly2088Cys)
c.6331G>T (p.Gly2111Cys)
c.5959G>T (p.Gly1987Cys)
c.6115G>T (p.Gly2039Cys)
c.6322G>T (p.Gly2108Cys)
c.5623G>T (p.Gly1875Cys)
c.6370G>T (p.Gly2124Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728671C=CA2202928805CREBBPc.6376G= (p.Gly2126=)
c.6262G= (p.Gly2088=)
c.6331G= (p.Gly2111=)
c.5959G= (p.Gly1987=)
c.6115G= (p.Gly2039=)
c.6322G= (p.Gly2108=)
c.5623G= (p.Gly1875=)
c.6370G= (p.Gly2124=)
16g.3728671C>GCA7869127CREBBPc.6376G>C (p.Gly2126Arg)
c.6262G>C (p.Gly2088Arg)
c.6331G>C (p.Gly2111Arg)
c.5959G>C (p.Gly1987Arg)
c.6115G>C (p.Gly2039Arg)
c.6322G>C (p.Gly2108Arg)
c.5623G>C (p.Gly1875Arg)
c.6370G>C (p.Gly2124Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728671C>TCA276971633CREBBPc.6376G>A (p.Gly2126Ser)
c.6262G>A (p.Gly2088Ser)
c.6331G>A (p.Gly2111Ser)
c.5959G>A (p.Gly1987Ser)
c.6115G>A (p.Gly2039Ser)
c.6322G>A (p.Gly2108Ser)
c.5623G>A (p.Gly1875Ser)
c.6370G>A (p.Gly2124Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728672G>ACA7869129CREBBPc.6375C>T (p.Pro2125=)
c.6261C>T (p.Pro2087=)
c.6330C>T (p.Pro2110=)
c.5958C>T (p.Pro1986=)
c.6114C>T (p.Pro2038=)
c.6321C>T (p.Pro2107=)
c.5622C>T (p.Pro1874=)
c.6369C>T (p.Pro2123=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728672G>CCA7869130CREBBPc.6375C>G (p.Pro2125=)
c.6261C>G (p.Pro2087=)
c.6330C>G (p.Pro2110=)
c.5958C>G (p.Pro1986=)
c.6114C>G (p.Pro2038=)
c.6321C>G (p.Pro2107=)
c.5622C>G (p.Pro1874=)
c.6369C>G (p.Pro2123=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728672G=CA2202928806CREBBPc.6375C= (p.Pro2125=)
c.6261C= (p.Pro2087=)
c.6330C= (p.Pro2110=)
c.5958C= (p.Pro1986=)
c.6114C= (p.Pro2038=)
c.6321C= (p.Pro2107=)
c.5622C= (p.Pro1874=)
c.6369C= (p.Pro2123=)
16g.3728672G>TCA7869131CREBBPc.6375C>A (p.Pro2125=)
c.6261C>A (p.Pro2087=)
c.6330C>A (p.Pro2110=)
c.5958C>A (p.Pro1986=)
c.6114C>A (p.Pro2038=)
c.6321C>A (p.Pro2107=)
c.5622C>A (p.Pro1874=)
c.6369C>A (p.Pro2123=)
 dbSNP ExAC gnomAD v2
16g.3728673G>ACA394553529CREBBPc.6374C>T (p.Pro2125Leu)
c.6260C>T (p.Pro2087Leu)
c.6329C>T (p.Pro2110Leu)
c.5957C>T (p.Pro1986Leu)
c.6113C>T (p.Pro2038Leu)
c.6320C>T (p.Pro2107Leu)
c.5621C>T (p.Pro1874Leu)
c.6368C>T (p.Pro2123Leu)
 dbSNP
16g.3728673G>CCA394553530CREBBPc.6374C>G (p.Pro2125Arg)
c.6260C>G (p.Pro2087Arg)
c.6329C>G (p.Pro2110Arg)
c.5957C>G (p.Pro1986Arg)
c.6113C>G (p.Pro2038Arg)
c.6320C>G (p.Pro2107Arg)
c.5621C>G (p.Pro1874Arg)
c.6368C>G (p.Pro2123Arg)
 dbSNP
16g.3728673G=CA2202928807CREBBPc.6374C= (p.Pro2125=)
c.6260C= (p.Pro2087=)
c.6329C= (p.Pro2110=)
c.5957C= (p.Pro1986=)
c.6113C= (p.Pro2038=)
c.6320C= (p.Pro2107=)
c.5621C= (p.Pro1874=)
c.6368C= (p.Pro2123=)
16g.3728673G>TCA394553531CREBBPc.6374C>A (p.Pro2125His)
c.6260C>A (p.Pro2087His)
c.6329C>A (p.Pro2110His)
c.5957C>A (p.Pro1986His)
c.6113C>A (p.Pro2038His)
c.6320C>A (p.Pro2107His)
c.5621C>A (p.Pro1874His)
c.6368C>A (p.Pro2123His)
 dbSNP gnomAD v4
16g.3728674G>ACA394553532CREBBPc.6373C>T (p.Pro2125Ser)
c.6259C>T (p.Pro2087Ser)
c.6328C>T (p.Pro2110Ser)
c.5956C>T (p.Pro1986Ser)
c.6112C>T (p.Pro2038Ser)
c.6319C>T (p.Pro2107Ser)
c.5620C>T (p.Pro1874Ser)
c.6367C>T (p.Pro2123Ser)
 dbSNP
16g.3728674G>CCA394553533CREBBPc.6373C>G (p.Pro2125Ala)
c.6259C>G (p.Pro2087Ala)
c.6328C>G (p.Pro2110Ala)
c.5956C>G (p.Pro1986Ala)
c.6112C>G (p.Pro2038Ala)
c.6319C>G (p.Pro2107Ala)
c.5620C>G (p.Pro1874Ala)
c.6367C>G (p.Pro2123Ala)
 dbSNP
16g.3728674G>TCA394553534CREBBPc.6373C>A (p.Pro2125Thr)
c.6259C>A (p.Pro2087Thr)
c.6328C>A (p.Pro2110Thr)
c.5956C>A (p.Pro1986Thr)
c.6112C>A (p.Pro2038Thr)
c.6319C>A (p.Pro2107Thr)
c.5620C>A (p.Pro1874Thr)
c.6367C>A (p.Pro2123Thr)
16g.3728675C>ACA394553535CREBBPc.6372G>T (p.Gln2124His)
c.6258G>T (p.Gln2086His)
c.6327G>T (p.Gln2109His)
c.5955G>T (p.Gln1985His)
c.6111G>T (p.Gln2037His)
c.6318G>T (p.Gln2106His)
c.5619G>T (p.Gln1873His)
c.6366G>T (p.Gln2122His)
 dbSNP
16g.3728675C=CA2202928808CREBBPc.6372G= (p.Gln2124=)
c.6258G= (p.Gln2086=)
c.6327G= (p.Gln2109=)
c.5955G= (p.Gln1985=)
c.6111G= (p.Gln2037=)
c.6318G= (p.Gln2106=)
c.5619G= (p.Gln1873=)
c.6366G= (p.Gln2122=)
16g.3728675C>GCA276971636CREBBPc.6372G>C (p.Gln2124His)
c.6258G>C (p.Gln2086His)
c.6327G>C (p.Gln2109His)
c.5955G>C (p.Gln1985His)
c.6111G>C (p.Gln2037His)
c.6318G>C (p.Gln2106His)
c.5619G>C (p.Gln1873His)
c.6366G>C (p.Gln2122His)
 dbSNP gnomAD v4
16g.3728675C>TCA493393570CREBBPc.6372G>A (p.Gln2124=)
c.6258G>A (p.Gln2086=)
c.6327G>A (p.Gln2109=)
c.5955G>A (p.Gln1985=)
c.6111G>A (p.Gln2037=)
c.6318G>A (p.Gln2106=)
c.5619G>A (p.Gln1873=)
c.6366G>A (p.Gln2122=)
 ClinVar dbSNP
16g.3728676T>ACA394553537CREBBPc.6371A>T (p.Gln2124Leu)
c.6257A>T (p.Gln2086Leu)
c.6326A>T (p.Gln2109Leu)
c.5954A>T (p.Gln1985Leu)
c.6110A>T (p.Gln2037Leu)
c.6317A>T (p.Gln2106Leu)
c.5618A>T (p.Gln1873Leu)
c.6365A>T (p.Gln2122Leu)
16g.3728676T>CCA394553538CREBBPc.6371A>G (p.Gln2124Arg)
c.6257A>G (p.Gln2086Arg)
c.6326A>G (p.Gln2109Arg)
c.5954A>G (p.Gln1985Arg)
c.6110A>G (p.Gln2037Arg)
c.6317A>G (p.Gln2106Arg)
c.5618A>G (p.Gln1873Arg)
c.6365A>G (p.Gln2122Arg)
 dbSNP gnomAD v4
16g.3728676T>GCA394553536CREBBPc.6371A>C (p.Gln2124Pro)
c.6257A>C (p.Gln2086Pro)
c.6326A>C (p.Gln2109Pro)
c.5954A>C (p.Gln1985Pro)
c.6110A>C (p.Gln2037Pro)
c.6317A>C (p.Gln2106Pro)
c.5618A>C (p.Gln1873Pro)
c.6365A>C (p.Gln2122Pro)
16g.3728677G>ACA394553541CREBBPc.6370C>T (p.Gln2124Ter)
c.6256C>T (p.Gln2086Ter)
c.6325C>T (p.Gln2109Ter)
c.5953C>T (p.Gln1985Ter)
c.6109C>T (p.Gln2037Ter)
c.6316C>T (p.Gln2106Ter)
c.5617C>T (p.Gln1873Ter)
c.6364C>T (p.Gln2122Ter)
16g.3728677G>CCA394553539CREBBPc.6370C>G (p.Gln2124Glu)
c.6256C>G (p.Gln2086Glu)
c.6325C>G (p.Gln2109Glu)
c.5953C>G (p.Gln1985Glu)
c.6109C>G (p.Gln2037Glu)
c.6316C>G (p.Gln2106Glu)
c.5617C>G (p.Gln1873Glu)
c.6364C>G (p.Gln2122Glu)
16g.3728677G>TCA394553540CREBBPc.6370C>A (p.Gln2124Lys)
c.6256C>A (p.Gln2086Lys)
c.6325C>A (p.Gln2109Lys)
c.5953C>A (p.Gln1985Lys)
c.6109C>A (p.Gln2037Lys)
c.6316C>A (p.Gln2106Lys)
c.5617C>A (p.Gln1873Lys)
c.6364C>A (p.Gln2122Lys)
16g.3728678G>ACA493393573CREBBPc.6369C>T (p.Ser2123=)
c.6255C>T (p.Ser2085=)
c.6324C>T (p.Ser2108=)
c.5952C>T (p.Ser1984=)
c.6108C>T (p.Ser2036=)
c.6315C>T (p.Ser2105=)
c.5616C>T (p.Ser1872=)
c.6363C>T (p.Ser2121=)
 dbSNP
16g.3728678G>CCA493393574CREBBPc.6369C>G (p.Ser2123=)
c.6255C>G (p.Ser2085=)
c.6324C>G (p.Ser2108=)
c.5952C>G (p.Ser1984=)
c.6108C>G (p.Ser2036=)
c.6315C>G (p.Ser2105=)
c.5616C>G (p.Ser1872=)
c.6363C>G (p.Ser2121=)
 dbSNP
16g.3728678G>TCA493393575CREBBPc.6369C>A (p.Ser2123=)
c.6255C>A (p.Ser2085=)
c.6324C>A (p.Ser2108=)
c.5952C>A (p.Ser1984=)
c.6108C>A (p.Ser2036=)
c.6315C>A (p.Ser2105=)
c.5616C>A (p.Ser1872=)
c.6363C>A (p.Ser2121=)
 dbSNP
16g.3728679G>ACA394553542CREBBPc.6368C>T (p.Ser2123Phe)
c.6254C>T (p.Ser2085Phe)
c.6323C>T (p.Ser2108Phe)
c.5951C>T (p.Ser1984Phe)
c.6107C>T (p.Ser2036Phe)
c.6314C>T (p.Ser2105Phe)
c.5615C>T (p.Ser1872Phe)
c.6362C>T (p.Ser2121Phe)
 dbSNP gnomAD v4
16g.3728679G>CCA394553543CREBBPc.6368C>G (p.Ser2123Cys)
c.6254C>G (p.Ser2085Cys)
c.6323C>G (p.Ser2108Cys)
c.5951C>G (p.Ser1984Cys)
c.6107C>G (p.Ser2036Cys)
c.6314C>G (p.Ser2105Cys)
c.5615C>G (p.Ser1872Cys)
c.6362C>G (p.Ser2121Cys)
 dbSNP gnomAD v4
16g.3728679G>TCA394553544CREBBPc.6368C>A (p.Ser2123Tyr)
c.6254C>A (p.Ser2085Tyr)
c.6323C>A (p.Ser2108Tyr)
c.5951C>A (p.Ser1984Tyr)
c.6107C>A (p.Ser2036Tyr)
c.6314C>A (p.Ser2105Tyr)
c.5615C>A (p.Ser1872Tyr)
c.6362C>A (p.Ser2121Tyr)
 dbSNP gnomAD v4
16g.3728680A>CCA394553545CREBBPc.6367T>G (p.Ser2123Ala)
c.6253T>G (p.Ser2085Ala)
c.6322T>G (p.Ser2108Ala)
c.5950T>G (p.Ser1984Ala)
c.6106T>G (p.Ser2036Ala)
c.6313T>G (p.Ser2105Ala)
c.5614T>G (p.Ser1872Ala)
c.6361T>G (p.Ser2121Ala)
 dbSNP
16g.3728680A>GCA394553546CREBBPc.6367T>C (p.Ser2123Pro)
c.6253T>C (p.Ser2085Pro)
c.6322T>C (p.Ser2108Pro)
c.5950T>C (p.Ser1984Pro)
c.6106T>C (p.Ser2036Pro)
c.6313T>C (p.Ser2105Pro)
c.5614T>C (p.Ser1872Pro)
c.6361T>C (p.Ser2121Pro)
 dbSNP
16g.3728680A>TCA394553547CREBBPc.6367T>A (p.Ser2123Thr)
c.6253T>A (p.Ser2085Thr)
c.6322T>A (p.Ser2108Thr)
c.5950T>A (p.Ser1984Thr)
c.6106T>A (p.Ser2036Thr)
c.6313T>A (p.Ser2105Thr)
c.5614T>A (p.Ser1872Thr)
c.6361T>A (p.Ser2121Thr)
 dbSNP
16g.3728680_3728698delinsACTGGAGGCCAGGCTGGGGCA2202928809CREBBPc.6349_6367delinsCCCCAGCCTGGCCTCCAGT (p.Pro2117=)
c.6235_6253delinsCCCCAGCCTGGCCTCCAGT (p.Pro2079=)
c.6304_6322delinsCCCCAGCCTGGCCTCCAGT (p.Pro2102=)
c.5932_5950delinsCCCCAGCCTGGCCTCCAGT (p.Pro1978=)
c.6088_6106delinsCCCCAGCCTGGCCTCCAGT (p.Pro2030=)
c.6295_6313delinsCCCCAGCCTGGCCTCCAGT (p.Pro2099=)
c.5596_5614delinsCCCCAGCCTGGCCTCCAGT (p.Pro1866=)
c.6343_6361delinsCCCCAGCCTGGCCTCCAGT (p.Pro2115=)
16g.3728681C>ACA7869132CREBBPc.6366G>T (p.Gln2122His)
c.6252G>T (p.Gln2084His)
c.6321G>T (p.Gln2107His)
c.5949G>T (p.Gln1983His)
c.6105G>T (p.Gln2035His)
c.6312G>T (p.Gln2104His)
c.5613G>T (p.Gln1871His)
c.6360G>T (p.Gln2120His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728681C=CA2202928811CREBBPc.6366G= (p.Gln2122=)
c.6252G= (p.Gln2084=)
c.6321G= (p.Gln2107=)
c.5949G= (p.Gln1983=)
c.6105G= (p.Gln2035=)
c.6312G= (p.Gln2104=)
c.5613G= (p.Gln1871=)
c.6360G= (p.Gln2120=)
16g.3728681C>GCA394553548CREBBPc.6366G>C (p.Gln2122His)
c.6252G>C (p.Gln2084His)
c.6321G>C (p.Gln2107His)
c.5949G>C (p.Gln1983His)
c.6105G>C (p.Gln2035His)
c.6312G>C (p.Gln2104His)
c.5613G>C (p.Gln1871His)
c.6360G>C (p.Gln2120His)
 dbSNP
16g.3728681C>TCA493393580CREBBPc.6366G>A (p.Gln2122=)
c.6252G>A (p.Gln2084=)
c.6321G>A (p.Gln2107=)
c.5949G>A (p.Gln1983=)
c.6105G>A (p.Gln2035=)
c.6312G>A (p.Gln2104=)
c.5613G>A (p.Gln1871=)
c.6360G>A (p.Gln2120=)
 dbSNP gnomAD v3 gnomAD v4
16g.3728684_3728701delCA2202928810CREBBPc.6349_6366del (p.Pro2117_Gln2122del)
c.6235_6252del (p.Pro2079_Gln2084del)
c.6304_6321del (p.Pro2102_Gln2107del)
c.5932_5949del (p.Pro1978_Gln1983del)
c.6088_6105del (p.Pro2030_Gln2035del)
c.6295_6312del (p.Pro2099_Gln2104del)
c.5596_5613del (p.Pro1866_Gln1871del)
c.6343_6360del (p.Pro2115_Gln2120del)
 dbSNP
16g.3728682T>ACA394553549CREBBPc.6365A>T (p.Gln2122Leu)
c.6251A>T (p.Gln2084Leu)
c.6320A>T (p.Gln2107Leu)
c.5948A>T (p.Gln1983Leu)
c.6104A>T (p.Gln2035Leu)
c.6311A>T (p.Gln2104Leu)
c.5612A>T (p.Gln1871Leu)
c.6359A>T (p.Gln2120Leu)
16g.3728682T>CCA394553550CREBBPc.6365A>G (p.Gln2122Arg)
c.6251A>G (p.Gln2084Arg)
c.6320A>G (p.Gln2107Arg)
c.5948A>G (p.Gln1983Arg)
c.6104A>G (p.Gln2035Arg)
c.6311A>G (p.Gln2104Arg)
c.5612A>G (p.Gln1871Arg)
c.6359A>G (p.Gln2120Arg)
 gnomAD v4
16g.3728682T>GCA394553551CREBBPc.6365A>C (p.Gln2122Pro)
c.6251A>C (p.Gln2084Pro)
c.6320A>C (p.Gln2107Pro)
c.5948A>C (p.Gln1983Pro)
c.6104A>C (p.Gln2035Pro)
c.6311A>C (p.Gln2104Pro)
c.5612A>C (p.Gln1871Pro)
c.6359A>C (p.Gln2120Pro)
 ClinVar gnomAD v4
16g.3728683G>ACA394553552CREBBPc.6364C>T (p.Gln2122Ter)
c.6250C>T (p.Gln2084Ter)
c.6319C>T (p.Gln2107Ter)
c.5947C>T (p.Gln1983Ter)
c.6103C>T (p.Gln2035Ter)
c.6310C>T (p.Gln2104Ter)
c.5611C>T (p.Gln1871Ter)
c.6358C>T (p.Gln2120Ter)
 dbSNP COSMIC
16g.3728683G>CCA394553554CREBBPc.6364C>G (p.Gln2122Glu)
c.6250C>G (p.Gln2084Glu)
c.6319C>G (p.Gln2107Glu)
c.5947C>G (p.Gln1983Glu)
c.6103C>G (p.Gln2035Glu)
c.6310C>G (p.Gln2104Glu)
c.5611C>G (p.Gln1871Glu)
c.6358C>G (p.Gln2120Glu)
16g.3728683G>TCA394553553CREBBPc.6364C>A (p.Gln2122Lys)
c.6250C>A (p.Gln2084Lys)
c.6319C>A (p.Gln2107Lys)
c.5947C>A (p.Gln1983Lys)
c.6103C>A (p.Gln2035Lys)
c.6310C>A (p.Gln2104Lys)
c.5611C>A (p.Gln1871Lys)
c.6358C>A (p.Gln2120Lys)
16g.3728684G>ACA276971637CREBBPc.6363C>T (p.Leu2121=)
c.6249C>T (p.Leu2083=)
c.6318C>T (p.Leu2106=)
c.5946C>T (p.Leu1982=)
c.6102C>T (p.Leu2034=)
c.6309C>T (p.Leu2103=)
c.5610C>T (p.Leu1870=)
c.6357C>T (p.Leu2119=)
 dbSNP gnomAD v4
16g.3728684G>CCA493393584CREBBPc.6363C>G (p.Leu2121=)
c.6249C>G (p.Leu2083=)
c.6318C>G (p.Leu2106=)
c.5946C>G (p.Leu1982=)
c.6102C>G (p.Leu2034=)
c.6309C>G (p.Leu2103=)
c.5610C>G (p.Leu1870=)
c.6357C>G (p.Leu2119=)
 dbSNP gnomAD v4
16g.3728684G=CA2202928812CREBBPc.6363C= (p.Leu2121=)
c.6249C= (p.Leu2083=)
c.6318C= (p.Leu2106=)
c.5946C= (p.Leu1982=)
c.6102C= (p.Leu2034=)
c.6309C= (p.Leu2103=)
c.5610C= (p.Leu1870=)
c.6357C= (p.Leu2119=)
16g.3728684G>TCA493393585CREBBPc.6363C>A (p.Leu2121=)
c.6249C>A (p.Leu2083=)
c.6318C>A (p.Leu2106=)
c.5946C>A (p.Leu1982=)
c.6102C>A (p.Leu2034=)
c.6309C>A (p.Leu2103=)
c.5610C>A (p.Leu1870=)
c.6357C>A (p.Leu2119=)
16g.3728685A=CA2202928813CREBBPc.6362T= (p.Leu2121=)
c.6248T= (p.Leu2083=)
c.6317T= (p.Leu2106=)
c.5945T= (p.Leu1982=)
c.6101T= (p.Leu2034=)
c.6308T= (p.Leu2103=)
c.5609T= (p.Leu1870=)
c.6356T= (p.Leu2119=)
16g.3728685A>CCA394553555CREBBPc.6362T>G (p.Leu2121Arg)
c.6248T>G (p.Leu2083Arg)
c.6317T>G (p.Leu2106Arg)
c.5945T>G (p.Leu1982Arg)
c.6101T>G (p.Leu2034Arg)
c.6308T>G (p.Leu2103Arg)
c.5609T>G (p.Leu1870Arg)
c.6356T>G (p.Leu2119Arg)
16g.3728685A>GCA394553556CREBBPc.6362T>C (p.Leu2121Pro)
c.6248T>C (p.Leu2083Pro)
c.6317T>C (p.Leu2106Pro)
c.5945T>C (p.Leu1982Pro)
c.6101T>C (p.Leu2034Pro)
c.6308T>C (p.Leu2103Pro)
c.5609T>C (p.Leu1870Pro)
c.6356T>C (p.Leu2119Pro)
 dbSNP
16g.3728685A>TCA394553557CREBBPc.6362T>A (p.Leu2121His)
c.6248T>A (p.Leu2083His)
c.6317T>A (p.Leu2106His)
c.5945T>A (p.Leu1982His)
c.6101T>A (p.Leu2034His)
c.6308T>A (p.Leu2103His)
c.5609T>A (p.Leu1870His)
c.6356T>A (p.Leu2119His)
 ClinVar dbSNP
16g.3728686G>ACA7869133CREBBPc.6361C>T (p.Leu2121Phe)
c.6247C>T (p.Leu2083Phe)
c.6316C>T (p.Leu2106Phe)
c.5944C>T (p.Leu1982Phe)
c.6100C>T (p.Leu2034Phe)
c.6307C>T (p.Leu2103Phe)
c.5608C>T (p.Leu1870Phe)
c.6355C>T (p.Leu2119Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728686G>CCA394553558CREBBPc.6361C>G (p.Leu2121Val)
c.6247C>G (p.Leu2083Val)
c.6316C>G (p.Leu2106Val)
c.5944C>G (p.Leu1982Val)
c.6100C>G (p.Leu2034Val)
c.6307C>G (p.Leu2103Val)
c.5608C>G (p.Leu1870Val)
c.6355C>G (p.Leu2119Val)
16g.3728686G=CA2202928814CREBBPc.6361C= (p.Leu2121=)
c.6247C= (p.Leu2083=)
c.6316C= (p.Leu2106=)
c.5944C= (p.Leu1982=)
c.6100C= (p.Leu2034=)
c.6307C= (p.Leu2103=)
c.5608C= (p.Leu1870=)
c.6355C= (p.Leu2119=)
16g.3728686G>TCA394553559CREBBPc.6361C>A (p.Leu2121Ile)
c.6247C>A (p.Leu2083Ile)
c.6316C>A (p.Leu2106Ile)
c.5944C>A (p.Leu1982Ile)
c.6100C>A (p.Leu2034Ile)
c.6307C>A (p.Leu2103Ile)
c.5608C>A (p.Leu1870Ile)
c.6355C>A (p.Leu2119Ile)
 dbSNP
16g.3728687G>ACA493393587CREBBPc.6360C>T (p.Gly2120=)
c.6246C>T (p.Gly2082=)
c.6315C>T (p.Gly2105=)
c.5943C>T (p.Gly1981=)
c.6099C>T (p.Gly2033=)
c.6306C>T (p.Gly2102=)
c.5607C>T (p.Gly1869=)
c.6354C>T (p.Gly2118=)
16g.3728687G>CCA493393588CREBBPc.6360C>G (p.Gly2120=)
c.6246C>G (p.Gly2082=)
c.6315C>G (p.Gly2105=)
c.5943C>G (p.Gly1981=)
c.6099C>G (p.Gly2033=)
c.6306C>G (p.Gly2102=)
c.5607C>G (p.Gly1869=)
c.6354C>G (p.Gly2118=)
16g.3728687G>TCA493393589CREBBPc.6360C>A (p.Gly2120=)
c.6246C>A (p.Gly2082=)
c.6315C>A (p.Gly2105=)
c.5943C>A (p.Gly1981=)
c.6099C>A (p.Gly2033=)
c.6306C>A (p.Gly2102=)
c.5607C>A (p.Gly1869=)
c.6354C>A (p.Gly2118=)
16g.3728690_3728707dupCA973904144CREBBPc.6343_6360dup (p.Gly2120_Leu2121insMetGlnProGlnProGly)
c.6229_6246dup (p.Gly2082_Leu2083insMetGlnProGlnProGly)
c.6298_6315dup (p.Gly2105_Leu2106insMetGlnProGlnProGly)
c.5926_5943dup (p.Gly1981_Leu1982insMetGlnProGlnProGly)
c.6082_6099dup (p.Gly2033_Leu2034insMetGlnProGlnProGly)
c.6289_6306dup (p.Gly2102_Leu2103insMetGlnProGlnProGly)
c.5590_5607dup (p.Gly1869_Leu1870insMetGlnProGlnProGly)
c.6337_6354dup (p.Gly2118_Leu2119insMetGlnProGlnProGly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3728688C>ACA394553560CREBBPc.6359G>T (p.Gly2120Val)
c.6245G>T (p.Gly2082Val)
c.6314G>T (p.Gly2105Val)
c.5942G>T (p.Gly1981Val)
c.6098G>T (p.Gly2033Val)
c.6305G>T (p.Gly2102Val)
c.5606G>T (p.Gly1869Val)
c.6353G>T (p.Gly2118Val)
16g.3728688C>GCA394553561CREBBPc.6359G>C (p.Gly2120Ala)
c.6245G>C (p.Gly2082Ala)
c.6314G>C (p.Gly2105Ala)
c.5942G>C (p.Gly1981Ala)
c.6098G>C (p.Gly2033Ala)
c.6305G>C (p.Gly2102Ala)
c.5606G>C (p.Gly1869Ala)
c.6353G>C (p.Gly2118Ala)
 dbSNP
16g.3728688C>TCA394553562CREBBPc.6359G>A (p.Gly2120Asp)
c.6245G>A (p.Gly2082Asp)
c.6314G>A (p.Gly2105Asp)
c.5942G>A (p.Gly1981Asp)
c.6098G>A (p.Gly2033Asp)
c.6305G>A (p.Gly2102Asp)
c.5606G>A (p.Gly1869Asp)
c.6353G>A (p.Gly2118Asp)
 dbSNP
16g.3728689C>ACA394553564CREBBPc.6358G>T (p.Gly2120Cys)
c.6244G>T (p.Gly2082Cys)
c.6313G>T (p.Gly2105Cys)
c.5941G>T (p.Gly1981Cys)
c.6097G>T (p.Gly2033Cys)
c.6304G>T (p.Gly2102Cys)
c.5605G>T (p.Gly1869Cys)
c.6352G>T (p.Gly2118Cys)
16g.3728689C>GCA394553565CREBBPc.6358G>C (p.Gly2120Arg)
c.6244G>C (p.Gly2082Arg)
c.6313G>C (p.Gly2105Arg)
c.5941G>C (p.Gly1981Arg)
c.6097G>C (p.Gly2033Arg)
c.6304G>C (p.Gly2102Arg)
c.5605G>C (p.Gly1869Arg)
c.6352G>C (p.Gly2118Arg)
 dbSNP
16g.3728689C>TCA394553563CREBBPc.6358G>A (p.Gly2120Ser)
c.6244G>A (p.Gly2082Ser)
c.6313G>A (p.Gly2105Ser)
c.5941G>A (p.Gly1981Ser)
c.6097G>A (p.Gly2033Ser)
c.6304G>A (p.Gly2102Ser)
c.5605G>A (p.Gly1869Ser)
c.6352G>A (p.Gly2118Ser)
 dbSNP
16g.3728689_3728690insGGGCTGGGACTGGCA2631402777CREBBPc.6357_6358insCCAGTCCCAGCCC (p.Gly2120ProfsTer?)
c.6243_6244insCCAGTCCCAGCCC (p.Gly2082ProfsTer?)
c.6312_6313insCCAGTCCCAGCCC (p.Gly2105ProfsTer?)
c.5940_5941insCCAGTCCCAGCCC (p.Gly1981ProfsTer?)
c.6096_6097insCCAGTCCCAGCCC (p.Gly2033ProfsTer?)
c.6303_6304insCCAGTCCCAGCCC (p.Gly2102ProfsTer?)
c.5604_5605insCCAGTCCCAGCCC (p.Gly1869ProfsTer?)
c.6351_6352insCCAGTCCCAGCCC (p.Gly2118ProfsTer?)
 gnomAD v4
16g.3728690A=CA2202928815CREBBPc.6357T= (p.Pro2119=)
c.6243T= (p.Pro2081=)
c.6312T= (p.Pro2104=)
c.5940T= (p.Pro1980=)
c.6096T= (p.Pro2032=)
c.6303T= (p.Pro2101=)
c.5604T= (p.Pro1868=)
c.6351T= (p.Pro2117=)
16g.3728690A>CCA493393597CREBBPc.6357T>G (p.Pro2119=)
c.6243T>G (p.Pro2081=)
c.6312T>G (p.Pro2104=)
c.5940T>G (p.Pro1980=)
c.6096T>G (p.Pro2032=)
c.6303T>G (p.Pro2101=)
c.5604T>G (p.Pro1868=)
c.6351T>G (p.Pro2117=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728690A>GCA493393595CREBBPc.6357T>C (p.Pro2119=)
c.6243T>C (p.Pro2081=)
c.6312T>C (p.Pro2104=)
c.5940T>C (p.Pro1980=)
c.6096T>C (p.Pro2032=)
c.6303T>C (p.Pro2101=)
c.5604T>C (p.Pro1868=)
c.6351T>C (p.Pro2117=)
 gnomAD v4
16g.3728690A>TCA493393596CREBBPc.6357T>A (p.Pro2119=)
c.6243T>A (p.Pro2081=)
c.6312T>A (p.Pro2104=)
c.5940T>A (p.Pro1980=)
c.6096T>A (p.Pro2032=)
c.6303T>A (p.Pro2101=)
c.5604T>A (p.Pro1868=)
c.6351T>A (p.Pro2117=)
16g.3728691G>ACA394553566CREBBPc.6356C>T (p.Pro2119Leu)
c.6242C>T (p.Pro2081Leu)
c.6311C>T (p.Pro2104Leu)
c.5939C>T (p.Pro1980Leu)
c.6095C>T (p.Pro2032Leu)
c.6302C>T (p.Pro2101Leu)
c.5603C>T (p.Pro1868Leu)
c.6350C>T (p.Pro2117Leu)
 dbSNP
16g.3728691G>CCA394553567CREBBPc.6356C>G (p.Pro2119Arg)
c.6242C>G (p.Pro2081Arg)
c.6311C>G (p.Pro2104Arg)
c.5939C>G (p.Pro1980Arg)
c.6095C>G (p.Pro2032Arg)
c.6302C>G (p.Pro2101Arg)
c.5603C>G (p.Pro1868Arg)
c.6350C>G (p.Pro2117Arg)
 dbSNP
16g.3728691G>TCA394553568CREBBPc.6356C>A (p.Pro2119His)
c.6242C>A (p.Pro2081His)
c.6311C>A (p.Pro2104His)
c.5939C>A (p.Pro1980His)
c.6095C>A (p.Pro2032His)
c.6302C>A (p.Pro2101His)
c.5603C>A (p.Pro1868His)
c.6350C>A (p.Pro2117His)
16g.3728696_3728713dupCA620714437CREBBPc.6339_6356dup (p.Pro2119_Gly2120insGlyMetGlnProGlnPro)
c.6225_6242dup (p.Pro2081_Gly2082insGlyMetGlnProGlnPro)
c.6294_6311dup (p.Pro2104_Gly2105insGlyMetGlnProGlnPro)
c.5922_5939dup (p.Pro1980_Gly1981insGlyMetGlnProGlnPro)
c.6078_6095dup (p.Pro2032_Gly2033insGlyMetGlnProGlnPro)
c.6285_6302dup (p.Pro2101_Gly2102insGlyMetGlnProGlnPro)
c.5586_5603dup (p.Pro1868_Gly1869insGlyMetGlnProGlnPro)
c.6333_6350dup (p.Pro2117_Gly2118insGlyMetGlnProGlnPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728692G>ACA394553569CREBBPc.6355C>T (p.Pro2119Ser)
c.6241C>T (p.Pro2081Ser)
c.6310C>T (p.Pro2104Ser)
c.5938C>T (p.Pro1980Ser)
c.6094C>T (p.Pro2032Ser)
c.6301C>T (p.Pro2101Ser)
c.5602C>T (p.Pro1868Ser)
c.6349C>T (p.Pro2117Ser)
 dbSNP
16g.3728692G>CCA394553570CREBBPc.6355C>G (p.Pro2119Ala)
c.6241C>G (p.Pro2081Ala)
c.6310C>G (p.Pro2104Ala)
c.5938C>G (p.Pro1980Ala)
c.6094C>G (p.Pro2032Ala)
c.6301C>G (p.Pro2101Ala)
c.5602C>G (p.Pro1868Ala)
c.6349C>G (p.Pro2117Ala)
 dbSNP
16g.3728692G>TCA394553571CREBBPc.6355C>A (p.Pro2119Thr)
c.6241C>A (p.Pro2081Thr)
c.6310C>A (p.Pro2104Thr)
c.5938C>A (p.Pro1980Thr)
c.6094C>A (p.Pro2032Thr)
c.6301C>A (p.Pro2101Thr)
c.5602C>A (p.Pro1868Thr)
c.6349C>A (p.Pro2117Thr)
 dbSNP
16g.3728693C>ACA394553572CREBBPc.6354G>T (p.Gln2118His)
c.6240G>T (p.Gln2080His)
c.6309G>T (p.Gln2103His)
c.5937G>T (p.Gln1979His)
c.6093G>T (p.Gln2031His)
c.6300G>T (p.Gln2100His)
c.5601G>T (p.Gln1867His)
c.6348G>T (p.Gln2116His)
 dbSNP
16g.3728693C=CA2202928816CREBBPc.6354G= (p.Gln2118=)
c.6240G= (p.Gln2080=)
c.6309G= (p.Gln2103=)
c.5937G= (p.Gln1979=)
c.6093G= (p.Gln2031=)
c.6300G= (p.Gln2100=)
c.5601G= (p.Gln1867=)
c.6348G= (p.Gln2116=)
16g.3728693C>GCA394553573CREBBPc.6354G>C (p.Gln2118His)
c.6240G>C (p.Gln2080His)
c.6309G>C (p.Gln2103His)
c.5937G>C (p.Gln1979His)
c.6093G>C (p.Gln2031His)
c.6300G>C (p.Gln2100His)
c.5601G>C (p.Gln1867His)
c.6348G>C (p.Gln2116His)
 dbSNP
16g.3728693C>TCA7869134CREBBPc.6354G>A (p.Gln2118=)
c.6240G>A (p.Gln2080=)
c.6309G>A (p.Gln2103=)
c.5937G>A (p.Gln1979=)
c.6093G>A (p.Gln2031=)
c.6300G>A (p.Gln2100=)
c.5601G>A (p.Gln1867=)
c.6348G>A (p.Gln2116=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728693_3728694insCAGTCCA2631402785CREBBPc.6354_6355insACTGG (p.Pro2119ThrfsTer26)
c.6240_6241insACTGG (p.Pro2081ThrfsTer26)
c.6309_6310insACTGG (p.Pro2104ThrfsTer26)
c.5937_5938insACTGG (p.Pro1980ThrfsTer26)
c.6093_6094insACTGG (p.Pro2032ThrfsTer26)
c.6300_6301insACTGG (p.Pro2101ThrfsTer26)
c.5601_5602insACTGG (p.Pro1868ThrfsTer26)
c.6348_6349insACTGG (p.Pro2117ThrfsTer26)
 gnomAD v4
16g.3728694T>ACA394553574CREBBPc.6353A>T (p.Gln2118Leu)
c.6239A>T (p.Gln2080Leu)
c.6308A>T (p.Gln2103Leu)
c.5936A>T (p.Gln1979Leu)
c.6092A>T (p.Gln2031Leu)
c.6299A>T (p.Gln2100Leu)
c.5600A>T (p.Gln1867Leu)
c.6347A>T (p.Gln2116Leu)
 gnomAD v4
16g.3728694T>CCA394553575CREBBPc.6353A>G (p.Gln2118Arg)
c.6239A>G (p.Gln2080Arg)
c.6308A>G (p.Gln2103Arg)
c.5936A>G (p.Gln1979Arg)
c.6092A>G (p.Gln2031Arg)
c.6299A>G (p.Gln2100Arg)
c.5600A>G (p.Gln1867Arg)
c.6347A>G (p.Gln2116Arg)
16g.3728694T>GCA394553576CREBBPc.6353A>C (p.Gln2118Pro)
c.6239A>C (p.Gln2080Pro)
c.6308A>C (p.Gln2103Pro)
c.5936A>C (p.Gln1979Pro)
c.6092A>C (p.Gln2031Pro)
c.6299A>C (p.Gln2100Pro)
c.5600A>C (p.Gln1867Pro)
c.6347A>C (p.Gln2116Pro)
16g.3728695G>ACA394553578CREBBPc.6352C>T (p.Gln2118Ter)
c.6238C>T (p.Gln2080Ter)
c.6307C>T (p.Gln2103Ter)
c.5935C>T (p.Gln1979Ter)
c.6091C>T (p.Gln2031Ter)
c.6298C>T (p.Gln2100Ter)
c.5599C>T (p.Gln1867Ter)
c.6346C>T (p.Gln2116Ter)
16g.3728695G>CCA394553579CREBBPc.6352C>G (p.Gln2118Glu)
c.6238C>G (p.Gln2080Glu)
c.6307C>G (p.Gln2103Glu)
c.5935C>G (p.Gln1979Glu)
c.6091C>G (p.Gln2031Glu)
c.6298C>G (p.Gln2100Glu)
c.5599C>G (p.Gln1867Glu)
c.6346C>G (p.Gln2116Glu)
16g.3728695G>TCA394553577CREBBPc.6352C>A (p.Gln2118Lys)
c.6238C>A (p.Gln2080Lys)
c.6307C>A (p.Gln2103Lys)
c.5935C>A (p.Gln1979Lys)
c.6091C>A (p.Gln2031Lys)
c.6298C>A (p.Gln2100Lys)
c.5599C>A (p.Gln1867Lys)
c.6346C>A (p.Gln2116Lys)
16g.3728697_3728698dupCA2695222736CREBBPc.6351_6352dup (p.Gln2118ProfsTer26)
c.6237_6238dup (p.Gln2080ProfsTer26)
c.6306_6307dup (p.Gln2103ProfsTer26)
c.5934_5935dup (p.Gln1979ProfsTer26)
c.6090_6091dup (p.Gln2031ProfsTer26)
c.6297_6298dup (p.Gln2100ProfsTer26)
c.5598_5599dup (p.Gln1867ProfsTer26)
c.6345_6346dup (p.Gln2116ProfsTer26)
16g.3728696G>ACA7869135CREBBPc.6351C>T (p.Pro2117=)
c.6237C>T (p.Pro2079=)
c.6306C>T (p.Pro2102=)
c.5934C>T (p.Pro1978=)
c.6090C>T (p.Pro2030=)
c.6297C>T (p.Pro2099=)
c.5598C>T (p.Pro1866=)
c.6345C>T (p.Pro2115=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728696G>CCA493393600CREBBPc.6351C>G (p.Pro2117=)
c.6237C>G (p.Pro2079=)
c.6306C>G (p.Pro2102=)
c.5934C>G (p.Pro1978=)
c.6090C>G (p.Pro2030=)
c.6297C>G (p.Pro2099=)
c.5598C>G (p.Pro1866=)
c.6345C>G (p.Pro2115=)
 dbSNP gnomAD v2 gnomAD v4
16g.3728696G=CA2202928817CREBBPc.6351C= (p.Pro2117=)
c.6237C= (p.Pro2079=)
c.6306C= (p.Pro2102=)
c.5934C= (p.Pro1978=)
c.6090C= (p.Pro2030=)
c.6297C= (p.Pro2099=)
c.5598C= (p.Pro1866=)
c.6345C= (p.Pro2115=)
16g.3728696G>TCA493393602CREBBPc.6351C>A (p.Pro2117=)
c.6237C>A (p.Pro2079=)
c.6306C>A (p.Pro2102=)
c.5934C>A (p.Pro1978=)
c.6090C>A (p.Pro2030=)
c.6297C>A (p.Pro2099=)
c.5598C>A (p.Pro1866=)
c.6345C>A (p.Pro2115=)
16g.3728697G>ACA394553580CREBBPc.6350C>T (p.Pro2117Leu)
c.6236C>T (p.Pro2079Leu)
c.6305C>T (p.Pro2102Leu)
c.5933C>T (p.Pro1978Leu)
c.6089C>T (p.Pro2030Leu)
c.6296C>T (p.Pro2099Leu)
c.5597C>T (p.Pro1866Leu)
c.6344C>T (p.Pro2115Leu)
16g.3728697G>CCA394553581CREBBPc.6350C>G (p.Pro2117Arg)
c.6236C>G (p.Pro2079Arg)
c.6305C>G (p.Pro2102Arg)
c.5933C>G (p.Pro1978Arg)
c.6089C>G (p.Pro2030Arg)
c.6296C>G (p.Pro2099Arg)
c.5597C>G (p.Pro1866Arg)
c.6344C>G (p.Pro2115Arg)
 dbSNP gnomAD v4
16g.3728697G>TCA394553582CREBBPc.6350C>A (p.Pro2117His)
c.6236C>A (p.Pro2079His)
c.6305C>A (p.Pro2102His)
c.5933C>A (p.Pro1978His)
c.6089C>A (p.Pro2030His)
c.6296C>A (p.Pro2099His)
c.5597C>A (p.Pro1866His)
c.6344C>A (p.Pro2115His)
 gnomAD v4
16g.3728698G>ACA394553583CREBBPc.6349C>T (p.Pro2117Ser)
c.6235C>T (p.Pro2079Ser)
c.6304C>T (p.Pro2102Ser)
c.5932C>T (p.Pro1978Ser)
c.6088C>T (p.Pro2030Ser)
c.6295C>T (p.Pro2099Ser)
c.5596C>T (p.Pro1866Ser)
c.6343C>T (p.Pro2115Ser)
 dbSNP gnomAD v4
16g.3728698G>CCA394553584CREBBPc.6349C>G (p.Pro2117Ala)
c.6235C>G (p.Pro2079Ala)
c.6304C>G (p.Pro2102Ala)
c.5932C>G (p.Pro1978Ala)
c.6088C>G (p.Pro2030Ala)
c.6295C>G (p.Pro2099Ala)
c.5596C>G (p.Pro1866Ala)
c.6343C>G (p.Pro2115Ala)
 dbSNP
16g.3728698G=CA2202928818CREBBPc.6349C= (p.Pro2117=)
c.6235C= (p.Pro2079=)
c.6304C= (p.Pro2102=)
c.5932C= (p.Pro1978=)
c.6088C= (p.Pro2030=)
c.6295C= (p.Pro2099=)
c.5596C= (p.Pro1866=)
c.6343C= (p.Pro2115=)
16g.3728698G>TCA394553585CREBBPc.6349C>A (p.Pro2117Thr)
c.6235C>A (p.Pro2079Thr)
c.6304C>A (p.Pro2102Thr)
c.5932C>A (p.Pro1978Thr)
c.6088C>A (p.Pro2030Thr)
c.6295C>A (p.Pro2099Thr)
c.5596C>A (p.Pro1866Thr)
c.6343C>A (p.Pro2115Thr)
16g.3728699C>ACA394553586CREBBPc.6348G>T (p.Gln2116His)
c.6234G>T (p.Gln2078His)
c.6303G>T (p.Gln2101His)
c.5931G>T (p.Gln1977His)
c.6087G>T (p.Gln2029His)
c.6294G>T (p.Gln2098His)
c.5595G>T (p.Gln1865His)
c.6342G>T (p.Gln2114His)
 dbSNP
16g.3728699C>GCA394553587CREBBPc.6348G>C (p.Gln2116His)
c.6234G>C (p.Gln2078His)
c.6303G>C (p.Gln2101His)
c.5931G>C (p.Gln1977His)
c.6087G>C (p.Gln2029His)
c.6294G>C (p.Gln2098His)
c.5595G>C (p.Gln1865His)
c.6342G>C (p.Gln2114His)
 dbSNP
16g.3728699C>TCA493393607CREBBPc.6348G>A (p.Gln2116=)
c.6234G>A (p.Gln2078=)
c.6303G>A (p.Gln2101=)
c.5931G>A (p.Gln1977=)
c.6087G>A (p.Gln2029=)
c.6294G>A (p.Gln2098=)
c.5595G>A (p.Gln1865=)
c.6342G>A (p.Gln2114=)
 dbSNP gnomAD v4
16g.3728700T>ACA394553588CREBBPc.6347A>T (p.Gln2116Leu)
c.6233A>T (p.Gln2078Leu)
c.6302A>T (p.Gln2101Leu)
c.5930A>T (p.Gln1977Leu)
c.6086A>T (p.Gln2029Leu)
c.6293A>T (p.Gln2098Leu)
c.5594A>T (p.Gln1865Leu)
c.6341A>T (p.Gln2114Leu)
 dbSNP
16g.3728700T>CCA394553589CREBBPc.6347A>G (p.Gln2116Arg)
c.6233A>G (p.Gln2078Arg)
c.6302A>G (p.Gln2101Arg)
c.5930A>G (p.Gln1977Arg)
c.6086A>G (p.Gln2029Arg)
c.6293A>G (p.Gln2098Arg)
c.5594A>G (p.Gln1865Arg)
c.6341A>G (p.Gln2114Arg)
 dbSNP
16g.3728700T>GCA394553590CREBBPc.6347A>C (p.Gln2116Pro)
c.6233A>C (p.Gln2078Pro)
c.6302A>C (p.Gln2101Pro)
c.5930A>C (p.Gln1977Pro)
c.6086A>C (p.Gln2029Pro)
c.6293A>C (p.Gln2098Pro)
c.5594A>C (p.Gln1865Pro)
c.6341A>C (p.Gln2114Pro)
 dbSNP
16g.3728700T=CA2202928819CREBBPc.6347A= (p.Gln2116=)
c.6233A= (p.Gln2078=)
c.6302A= (p.Gln2101=)
c.5930A= (p.Gln1977=)
c.6086A= (p.Gln2029=)
c.6293A= (p.Gln2098=)
c.5594A= (p.Gln1865=)
c.6341A= (p.Gln2114=)
16g.3728701G>ACA394553591CREBBPc.6346C>T (p.Gln2116Ter)
c.6232C>T (p.Gln2078Ter)
c.6301C>T (p.Gln2101Ter)
c.5929C>T (p.Gln1977Ter)
c.6085C>T (p.Gln2029Ter)
c.6292C>T (p.Gln2098Ter)
c.5593C>T (p.Gln1865Ter)
c.6340C>T (p.Gln2114Ter)
 dbSNP
16g.3728701G>CCA394553592CREBBPc.6346C>G (p.Gln2116Glu)
c.6232C>G (p.Gln2078Glu)
c.6301C>G (p.Gln2101Glu)
c.5929C>G (p.Gln1977Glu)
c.6085C>G (p.Gln2029Glu)
c.6292C>G (p.Gln2098Glu)
c.5593C>G (p.Gln1865Glu)
c.6340C>G (p.Gln2114Glu)
 dbSNP
16g.3728701G>TCA394553593CREBBPc.6346C>A (p.Gln2116Lys)
c.6232C>A (p.Gln2078Lys)
c.6301C>A (p.Gln2101Lys)
c.5929C>A (p.Gln1977Lys)
c.6085C>A (p.Gln2029Lys)
c.6292C>A (p.Gln2098Lys)
c.5593C>A (p.Gln1865Lys)
c.6340C>A (p.Gln2114Lys)
 dbSNP
16g.3728702C>ACA394553595CREBBPc.6345G>T (p.Met2115Ile)
c.6231G>T (p.Met2077Ile)
c.6300G>T (p.Met2100Ile)
c.5928G>T (p.Met1976Ile)
c.6084G>T (p.Met2028Ile)
c.6291G>T (p.Met2097Ile)
c.5592G>T (p.Met1864Ile)
c.6339G>T (p.Met2113Ile)
16g.3728702C>GCA394553596CREBBPc.6345G>C (p.Met2115Ile)
c.6231G>C (p.Met2077Ile)
c.6300G>C (p.Met2100Ile)
c.5928G>C (p.Met1976Ile)
c.6084G>C (p.Met2028Ile)
c.6291G>C (p.Met2097Ile)
c.5592G>C (p.Met1864Ile)
c.6339G>C (p.Met2113Ile)
 dbSNP
16g.3728702C>TCA394553594CREBBPc.6345G>A (p.Met2115Ile)
c.6231G>A (p.Met2077Ile)
c.6300G>A (p.Met2100Ile)
c.5928G>A (p.Met1976Ile)
c.6084G>A (p.Met2028Ile)
c.6291G>A (p.Met2097Ile)
c.5592G>A (p.Met1864Ile)
c.6339G>A (p.Met2113Ile)
 dbSNP gnomAD v4
16g.3728703A>CCA394553598CREBBPc.6344T>G (p.Met2115Arg)
c.6230T>G (p.Met2077Arg)
c.6299T>G (p.Met2100Arg)
c.5927T>G (p.Met1976Arg)
c.6083T>G (p.Met2028Arg)
c.6290T>G (p.Met2097Arg)
c.5591T>G (p.Met1864Arg)
c.6338T>G (p.Met2113Arg)
16g.3728703A>GCA394553597CREBBPc.6344T>C (p.Met2115Thr)
c.6230T>C (p.Met2077Thr)
c.6299T>C (p.Met2100Thr)
c.5927T>C (p.Met1976Thr)
c.6083T>C (p.Met2028Thr)
c.6290T>C (p.Met2097Thr)
c.5591T>C (p.Met1864Thr)
c.6338T>C (p.Met2113Thr)
 dbSNP gnomAD v4
16g.3728703A>TCA394553599CREBBPc.6344T>A (p.Met2115Lys)
c.6230T>A (p.Met2077Lys)
c.6299T>A (p.Met2100Lys)
c.5927T>A (p.Met1976Lys)
c.6083T>A (p.Met2028Lys)
c.6290T>A (p.Met2097Lys)
c.5591T>A (p.Met1864Lys)
c.6338T>A (p.Met2113Lys)
 dbSNP
16g.3728704T>ACA394553600CREBBPc.6343A>T (p.Met2115Leu)
c.6229A>T (p.Met2077Leu)
c.6298A>T (p.Met2100Leu)
c.5926A>T (p.Met1976Leu)
c.6082A>T (p.Met2028Leu)
c.6289A>T (p.Met2097Leu)
c.5590A>T (p.Met1864Leu)
c.6337A>T (p.Met2113Leu)
 dbSNP
16g.3728704T>CCA7869136CREBBPc.6343A>G (p.Met2115Val)
c.6229A>G (p.Met2077Val)
c.6298A>G (p.Met2100Val)
c.5926A>G (p.Met1976Val)
c.6082A>G (p.Met2028Val)
c.6289A>G (p.Met2097Val)
c.5590A>G (p.Met1864Val)
c.6337A>G (p.Met2113Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728704T>GCA394553601CREBBPc.6343A>C (p.Met2115Leu)
c.6229A>C (p.Met2077Leu)
c.6298A>C (p.Met2100Leu)
c.5926A>C (p.Met1976Leu)
c.6082A>C (p.Met2028Leu)
c.6289A>C (p.Met2097Leu)
c.5590A>C (p.Met1864Leu)
c.6337A>C (p.Met2113Leu)
 dbSNP
16g.3728704T=CA2202928820CREBBPc.6343A= (p.Met2115=)
c.6229A= (p.Met2077=)
c.6298A= (p.Met2100=)
c.5926A= (p.Met1976=)
c.6082A= (p.Met2028=)
c.6289A= (p.Met2097=)
c.5590A= (p.Met1864=)
c.6337A= (p.Met2113=)
16g.3728705G>ACA493393612CREBBPc.6342C>T (p.Gly2114=)
c.6228C>T (p.Gly2076=)
c.6297C>T (p.Gly2099=)
c.5925C>T (p.Gly1975=)
c.6081C>T (p.Gly2027=)
c.6288C>T (p.Gly2096=)
c.5589C>T (p.Gly1863=)
c.6336C>T (p.Gly2112=)
 dbSNP gnomAD v4 COSMIC
16g.3728705G>CCA493393613CREBBPc.6342C>G (p.Gly2114=)
c.6228C>G (p.Gly2076=)
c.6297C>G (p.Gly2099=)
c.5925C>G (p.Gly1975=)
c.6081C>G (p.Gly2027=)
c.6288C>G (p.Gly2096=)
c.5589C>G (p.Gly1863=)
c.6336C>G (p.Gly2112=)
 dbSNP
16g.3728705G>TCA493393614CREBBPc.6342C>A (p.Gly2114=)
c.6228C>A (p.Gly2076=)
c.6297C>A (p.Gly2099=)
c.5925C>A (p.Gly1975=)
c.6081C>A (p.Gly2027=)
c.6288C>A (p.Gly2096=)
c.5589C>A (p.Gly1863=)
c.6336C>A (p.Gly2112=)
16g.3728706C>ACA394553602CREBBPc.6341G>T (p.Gly2114Val)
c.6227G>T (p.Gly2076Val)
c.6296G>T (p.Gly2099Val)
c.5924G>T (p.Gly1975Val)
c.6080G>T (p.Gly2027Val)
c.6287G>T (p.Gly2096Val)
c.5588G>T (p.Gly1863Val)
c.6335G>T (p.Gly2112Val)
 dbSNP
16g.3728706C=CA2202928821CREBBPc.6341G= (p.Gly2114=)
c.6227G= (p.Gly2076=)
c.6296G= (p.Gly2099=)
c.5924G= (p.Gly1975=)
c.6080G= (p.Gly2027=)
c.6287G= (p.Gly2096=)
c.5588G= (p.Gly1863=)
c.6335G= (p.Gly2112=)
16g.3728706C>GCA394553603CREBBPc.6341G>C (p.Gly2114Ala)
c.6227G>C (p.Gly2076Ala)
c.6296G>C (p.Gly2099Ala)
c.5924G>C (p.Gly1975Ala)
c.6080G>C (p.Gly2027Ala)
c.6287G>C (p.Gly2096Ala)
c.5588G>C (p.Gly1863Ala)
c.6335G>C (p.Gly2112Ala)
 dbSNP
16g.3728706C>TCA7869137CREBBPc.6341G>A (p.Gly2114Asp)
c.6227G>A (p.Gly2076Asp)
c.6296G>A (p.Gly2099Asp)
c.5924G>A (p.Gly1975Asp)
c.6080G>A (p.Gly2027Asp)
c.6287G>A (p.Gly2096Asp)
c.5588G>A (p.Gly1863Asp)
c.6335G>A (p.Gly2112Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728707C>ACA394553604CREBBPc.6340G>T (p.Gly2114Cys)
c.6226G>T (p.Gly2076Cys)
c.6295G>T (p.Gly2099Cys)
c.5923G>T (p.Gly1975Cys)
c.6079G>T (p.Gly2027Cys)
c.6286G>T (p.Gly2096Cys)
c.5587G>T (p.Gly1863Cys)
c.6334G>T (p.Gly2112Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.3728707C=CA2202928822CREBBPc.6340G= (p.Gly2114=)
c.6226G= (p.Gly2076=)
c.6295G= (p.Gly2099=)
c.5923G= (p.Gly1975=)
c.6079G= (p.Gly2027=)
c.6286G= (p.Gly2096=)
c.5587G= (p.Gly1863=)
c.6334G= (p.Gly2112=)
16g.3728707C>GCA276971654CREBBPc.6340G>C (p.Gly2114Arg)
c.6226G>C (p.Gly2076Arg)
c.6295G>C (p.Gly2099Arg)
c.5923G>C (p.Gly1975Arg)
c.6079G>C (p.Gly2027Arg)
c.6286G>C (p.Gly2096Arg)
c.5587G>C (p.Gly1863Arg)
c.6334G>C (p.Gly2112Arg)
 dbSNP
16g.3728707C>TCA7869138CREBBPc.6340G>A (p.Gly2114Ser)
c.6226G>A (p.Gly2076Ser)
c.6295G>A (p.Gly2099Ser)
c.5923G>A (p.Gly1975Ser)
c.6079G>A (p.Gly2027Ser)
c.6286G>A (p.Gly2096Ser)
c.5587G>A (p.Gly1863Ser)
c.6334G>A (p.Gly2112Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728708G>ACA7869139CREBBPc.6339C>T (p.Pro2113=)
c.6225C>T (p.Pro2075=)
c.6294C>T (p.Pro2098=)
c.5922C>T (p.Pro1974=)
c.6078C>T (p.Pro2026=)
c.6285C>T (p.Pro2095=)
c.5586C>T (p.Pro1862=)
c.6333C>T (p.Pro2111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728708G>CCA493393618CREBBPc.6339C>G (p.Pro2113=)
c.6225C>G (p.Pro2075=)
c.6294C>G (p.Pro2098=)
c.5922C>G (p.Pro1974=)
c.6078C>G (p.Pro2026=)
c.6285C>G (p.Pro2095=)
c.5586C>G (p.Pro1862=)
c.6333C>G (p.Pro2111=)
 gnomAD v4
16g.3728708G=CA2202928823CREBBPc.6339C= (p.Pro2113=)
c.6225C= (p.Pro2075=)
c.6294C= (p.Pro2098=)
c.5922C= (p.Pro1974=)
c.6078C= (p.Pro2026=)
c.6285C= (p.Pro2095=)
c.5586C= (p.Pro1862=)
c.6333C= (p.Pro2111=)
16g.3728708G>TCA493393619CREBBPc.6339C>A (p.Pro2113=)
c.6225C>A (p.Pro2075=)
c.6294C>A (p.Pro2098=)
c.5922C>A (p.Pro1974=)
c.6078C>A (p.Pro2026=)
c.6285C>A (p.Pro2095=)
c.5586C>A (p.Pro1862=)
c.6333C>A (p.Pro2111=)
16g.3728709G>ACA394553605CREBBPc.6338C>T (p.Pro2113Leu)
c.6224C>T (p.Pro2075Leu)
c.6293C>T (p.Pro2098Leu)
c.5921C>T (p.Pro1974Leu)
c.6077C>T (p.Pro2026Leu)
c.6284C>T (p.Pro2095Leu)
c.5585C>T (p.Pro1862Leu)
c.6332C>T (p.Pro2111Leu)
 dbSNP
16g.3728709G>CCA394553606CREBBPc.6338C>G (p.Pro2113Arg)
c.6224C>G (p.Pro2075Arg)
c.6293C>G (p.Pro2098Arg)
c.5921C>G (p.Pro1974Arg)
c.6077C>G (p.Pro2026Arg)
c.6284C>G (p.Pro2095Arg)
c.5585C>G (p.Pro1862Arg)
c.6332C>G (p.Pro2111Arg)
 dbSNP
16g.3728709G>TCA394553607CREBBPc.6338C>A (p.Pro2113His)
c.6224C>A (p.Pro2075His)
c.6293C>A (p.Pro2098His)
c.5921C>A (p.Pro1974His)
c.6077C>A (p.Pro2026His)
c.6284C>A (p.Pro2095His)
c.5585C>A (p.Pro1862His)
c.6332C>A (p.Pro2111His)
 dbSNP
16g.3728710G>ACA394553609CREBBPc.6337C>T (p.Pro2113Ser)
c.6223C>T (p.Pro2075Ser)
c.6292C>T (p.Pro2098Ser)
c.5920C>T (p.Pro1974Ser)
c.6076C>T (p.Pro2026Ser)
c.6283C>T (p.Pro2095Ser)
c.5584C>T (p.Pro1862Ser)
c.6331C>T (p.Pro2111Ser)
 dbSNP
16g.3728710G>CCA394553608CREBBPc.6337C>G (p.Pro2113Ala)
c.6223C>G (p.Pro2075Ala)
c.6292C>G (p.Pro2098Ala)
c.5920C>G (p.Pro1974Ala)
c.6076C>G (p.Pro2026Ala)
c.6283C>G (p.Pro2095Ala)
c.5584C>G (p.Pro1862Ala)
c.6331C>G (p.Pro2111Ala)
 dbSNP
16g.3728710G=CA2202928824CREBBPc.6337C= (p.Pro2113=)
c.6223C= (p.Pro2075=)
c.6292C= (p.Pro2098=)
c.5920C= (p.Pro1974=)
c.6076C= (p.Pro2026=)
c.6283C= (p.Pro2095=)
c.5584C= (p.Pro1862=)
c.6331C= (p.Pro2111=)
16g.3728710G>TCA16620195CREBBPc.6337C>A (p.Pro2113Thr)
c.6223C>A (p.Pro2075Thr)
c.6292C>A (p.Pro2098Thr)
c.5920C>A (p.Pro1974Thr)
c.6076C>A (p.Pro2026Thr)
c.6283C>A (p.Pro2095Thr)
c.5584C>A (p.Pro1862Thr)
c.6331C>A (p.Pro2111Thr)
 ClinVar dbSNP
16g.3728711C>ACA394553610CREBBPc.6336G>T (p.Gln2112His)
c.6222G>T (p.Gln2074His)
c.6291G>T (p.Gln2097His)
c.5919G>T (p.Gln1973His)
c.6075G>T (p.Gln2025His)
c.6282G>T (p.Gln2094His)
c.5583G>T (p.Gln1861His)
c.6330G>T (p.Gln2110His)
 dbSNP
16g.3728711C>GCA394553611CREBBPc.6336G>C (p.Gln2112His)
c.6222G>C (p.Gln2074His)
c.6291G>C (p.Gln2097His)
c.5919G>C (p.Gln1973His)
c.6075G>C (p.Gln2025His)
c.6282G>C (p.Gln2094His)
c.5583G>C (p.Gln1861His)
c.6330G>C (p.Gln2110His)
 dbSNP
16g.3728711C>TCA493393620CREBBPc.6336G>A (p.Gln2112=)
c.6222G>A (p.Gln2074=)
c.6291G>A (p.Gln2097=)
c.5919G>A (p.Gln1973=)
c.6075G>A (p.Gln2025=)
c.6282G>A (p.Gln2094=)
c.5583G>A (p.Gln1861=)
c.6330G>A (p.Gln2110=)
 dbSNP
16g.3728712T>ACA394553612CREBBPc.6335A>T (p.Gln2112Leu)
c.6221A>T (p.Gln2074Leu)
c.6290A>T (p.Gln2097Leu)
c.5918A>T (p.Gln1973Leu)
c.6074A>T (p.Gln2025Leu)
c.6281A>T (p.Gln2094Leu)
c.5582A>T (p.Gln1861Leu)
c.6329A>T (p.Gln2110Leu)
 dbSNP
16g.3728712T>CCA394553613CREBBPc.6335A>G (p.Gln2112Arg)
c.6221A>G (p.Gln2074Arg)
c.6290A>G (p.Gln2097Arg)
c.5918A>G (p.Gln1973Arg)
c.6074A>G (p.Gln2025Arg)
c.6281A>G (p.Gln2094Arg)
c.5582A>G (p.Gln1861Arg)
c.6329A>G (p.Gln2110Arg)
 dbSNP
16g.3728712T>GCA394553614CREBBPc.6335A>C (p.Gln2112Pro)
c.6221A>C (p.Gln2074Pro)
c.6290A>C (p.Gln2097Pro)
c.5918A>C (p.Gln1973Pro)
c.6074A>C (p.Gln2025Pro)
c.6281A>C (p.Gln2094Pro)
c.5582A>C (p.Gln1861Pro)
c.6329A>C (p.Gln2110Pro)
 dbSNP
16g.3728713G>ACA394553615CREBBPc.6334C>T (p.Gln2112Ter)
c.6220C>T (p.Gln2074Ter)
c.6289C>T (p.Gln2097Ter)
c.5917C>T (p.Gln1973Ter)
c.6073C>T (p.Gln2025Ter)
c.6280C>T (p.Gln2094Ter)
c.5581C>T (p.Gln1861Ter)
c.6328C>T (p.Gln2110Ter)
 dbSNP
16g.3728713G>CCA394553616CREBBPc.6334C>G (p.Gln2112Glu)
c.6220C>G (p.Gln2074Glu)
c.6289C>G (p.Gln2097Glu)
c.5917C>G (p.Gln1973Glu)
c.6073C>G (p.Gln2025Glu)
c.6280C>G (p.Gln2094Glu)
c.5581C>G (p.Gln1861Glu)
c.6328C>G (p.Gln2110Glu)
 dbSNP COSMIC
16g.3728713G>TCA394553617CREBBPc.6334C>A (p.Gln2112Lys)
c.6220C>A (p.Gln2074Lys)
c.6289C>A (p.Gln2097Lys)
c.5917C>A (p.Gln1973Lys)
c.6073C>A (p.Gln2025Lys)
c.6280C>A (p.Gln2094Lys)
c.5581C>A (p.Gln1861Lys)
c.6328C>A (p.Gln2110Lys)
 dbSNP
16g.3728714A=CA2202928825CREBBPc.6333T= (p.Asn2111=)
c.6219T= (p.Asn2073=)
c.6288T= (p.Asn2096=)
c.5916T= (p.Asn1972=)
c.6072T= (p.Asn2024=)
c.6279T= (p.Asn2093=)
c.5580T= (p.Asn1860=)
c.6327T= (p.Asn2109=)
16g.3728714A>CCA7869140CREBBPc.6333T>G (p.Asn2111Lys)
c.6219T>G (p.Asn2073Lys)
c.6288T>G (p.Asn2096Lys)
c.5916T>G (p.Asn1972Lys)
c.6072T>G (p.Asn2024Lys)
c.6279T>G (p.Asn2093Lys)
c.5580T>G (p.Asn1860Lys)
c.6327T>G (p.Asn2109Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728714A>GCA493393621CREBBPc.6333T>C (p.Asn2111=)
c.6219T>C (p.Asn2073=)
c.6288T>C (p.Asn2096=)
c.5916T>C (p.Asn1972=)
c.6072T>C (p.Asn2024=)
c.6279T>C (p.Asn2093=)
c.5580T>C (p.Asn1860=)
c.6327T>C (p.Asn2109=)
 dbSNP
16g.3728714A>TCA394553618CREBBPc.6333T>A (p.Asn2111Lys)
c.6219T>A (p.Asn2073Lys)
c.6288T>A (p.Asn2096Lys)
c.5916T>A (p.Asn1972Lys)
c.6072T>A (p.Asn2024Lys)
c.6279T>A (p.Asn2093Lys)
c.5580T>A (p.Asn1860Lys)
c.6327T>A (p.Asn2109Lys)
16g.3728715T>ACA394553619CREBBPc.6332A>T (p.Asn2111Ile)
c.6218A>T (p.Asn2073Ile)
c.6287A>T (p.Asn2096Ile)
c.5915A>T (p.Asn1972Ile)
c.6071A>T (p.Asn2024Ile)
c.6278A>T (p.Asn2093Ile)
c.5579A>T (p.Asn1860Ile)
c.6326A>T (p.Asn2109Ile)
 dbSNP
16g.3728715T>CCA7869141CREBBPc.6332A>G (p.Asn2111Ser)
c.6218A>G (p.Asn2073Ser)
c.6287A>G (p.Asn2096Ser)
c.5915A>G (p.Asn1972Ser)
c.6071A>G (p.Asn2024Ser)
c.6278A>G (p.Asn2093Ser)
c.5579A>G (p.Asn1860Ser)
c.6326A>G (p.Asn2109Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728715T>GCA394553620CREBBPc.6332A>C (p.Asn2111Thr)
c.6218A>C (p.Asn2073Thr)
c.6287A>C (p.Asn2096Thr)
c.5915A>C (p.Asn1972Thr)
c.6071A>C (p.Asn2024Thr)
c.6278A>C (p.Asn2093Thr)
c.5579A>C (p.Asn1860Thr)
c.6326A>C (p.Asn2109Thr)
 dbSNP
16g.3728715T=CA2202928826CREBBPc.6332A= (p.Asn2111=)
c.6218A= (p.Asn2073=)
c.6287A= (p.Asn2096=)
c.5915A= (p.Asn1972=)
c.6071A= (p.Asn2024=)
c.6278A= (p.Asn2093=)
c.5579A= (p.Asn1860=)
c.6326A= (p.Asn2109=)
16g.3728716T>ACA394553621CREBBPc.6331A>T (p.Asn2111Tyr)
c.6217A>T (p.Asn2073Tyr)
c.6286A>T (p.Asn2096Tyr)
c.5914A>T (p.Asn1972Tyr)
c.6070A>T (p.Asn2024Tyr)
c.6277A>T (p.Asn2093Tyr)
c.5578A>T (p.Asn1860Tyr)
c.6325A>T (p.Asn2109Tyr)
16g.3728716T>CCA394553622CREBBPc.6331A>G (p.Asn2111Asp)
c.6217A>G (p.Asn2073Asp)
c.6286A>G (p.Asn2096Asp)
c.5914A>G (p.Asn1972Asp)
c.6070A>G (p.Asn2024Asp)
c.6277A>G (p.Asn2093Asp)
c.5578A>G (p.Asn1860Asp)
c.6325A>G (p.Asn2109Asp)
16g.3728716T>GCA7869142CREBBPc.6331A>C (p.Asn2111His)
c.6217A>C (p.Asn2073His)
c.6286A>C (p.Asn2096His)
c.5914A>C (p.Asn1972His)
c.6070A>C (p.Asn2024His)
c.6277A>C (p.Asn2093His)
c.5578A>C (p.Asn1860His)
c.6325A>C (p.Asn2109His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728716T=CA2202928827CREBBPc.6331A= (p.Asn2111=)
c.6217A= (p.Asn2073=)
c.6286A= (p.Asn2096=)
c.5914A= (p.Asn1972=)
c.6070A= (p.Asn2024=)
c.6277A= (p.Asn2093=)
c.5578A= (p.Asn1860=)
c.6325A= (p.Asn2109=)
16g.3728716_3728717insCCTCTCA1139655045CREBBPc.6331_6332insGAGGA (p.Asn2111ArgfsTer?)
c.6217_6218insGAGGA (p.Asn2073ArgfsTer?)
c.6286_6287insGAGGA (p.Asn2096ArgfsTer?)
c.5914_5915insGAGGA (p.Asn1972ArgfsTer?)
c.6070_6071insGAGGA (p.Asn2024ArgfsTer?)
c.6277_6278insGAGGA (p.Asn2093ArgfsTer?)
c.5578_5579insGAGGA (p.Asn1860ArgfsTer?)
c.6325_6326insGAGGA (p.Asn2109ArgfsTer?)
16g.3728717G>ACA493393623CREBBPc.6330C>T (p.Ala2110=)
c.6216C>T (p.Ala2072=)
c.6285C>T (p.Ala2095=)
c.5913C>T (p.Ala1971=)
c.6069C>T (p.Ala2023=)
c.6276C>T (p.Ala2092=)
c.5577C>T (p.Ala1859=)
c.6324C>T (p.Ala2108=)
 dbSNP gnomAD v4
16g.3728717G>CCA493393622CREBBPc.6330C>G (p.Ala2110=)
c.6216C>G (p.Ala2072=)
c.6285C>G (p.Ala2095=)
c.5913C>G (p.Ala1971=)
c.6069C>G (p.Ala2023=)
c.6276C>G (p.Ala2092=)
c.5577C>G (p.Ala1859=)
c.6324C>G (p.Ala2108=)
 dbSNP
16g.3728717G>TCA493393624CREBBPc.6330C>A (p.Ala2110=)
c.6216C>A (p.Ala2072=)
c.6285C>A (p.Ala2095=)
c.5913C>A (p.Ala1971=)
c.6069C>A (p.Ala2023=)
c.6276C>A (p.Ala2092=)
c.5577C>A (p.Ala1859=)
c.6324C>A (p.Ala2108=)
 dbSNP
16g.3728718G>ACA394553623CREBBPc.6329C>T (p.Ala2110Val)
c.6215C>T (p.Ala2072Val)
c.6284C>T (p.Ala2095Val)
c.5912C>T (p.Ala1971Val)
c.6068C>T (p.Ala2023Val)
c.6275C>T (p.Ala2092Val)
c.5576C>T (p.Ala1859Val)
c.6323C>T (p.Ala2108Val)
 dbSNP gnomAD v3 gnomAD v4
16g.3728718G>CCA394553624CREBBPc.6329C>G (p.Ala2110Gly)
c.6215C>G (p.Ala2072Gly)
c.6284C>G (p.Ala2095Gly)
c.5912C>G (p.Ala1971Gly)
c.6068C>G (p.Ala2023Gly)
c.6275C>G (p.Ala2092Gly)
c.5576C>G (p.Ala1859Gly)
c.6323C>G (p.Ala2108Gly)
 ClinVar dbSNP
16g.3728718G=CA2202928828CREBBPc.6329C= (p.Ala2110=)
c.6215C= (p.Ala2072=)
c.6284C= (p.Ala2095=)
c.5912C= (p.Ala1971=)
c.6068C= (p.Ala2023=)
c.6275C= (p.Ala2092=)
c.5576C= (p.Ala1859=)
c.6323C= (p.Ala2108=)
16g.3728718G>TCA394553625CREBBPc.6329C>A (p.Ala2110Asp)
c.6215C>A (p.Ala2072Asp)
c.6284C>A (p.Ala2095Asp)
c.5912C>A (p.Ala1971Asp)
c.6068C>A (p.Ala2023Asp)
c.6275C>A (p.Ala2092Asp)
c.5576C>A (p.Ala1859Asp)
c.6323C>A (p.Ala2108Asp)
 ClinVar dbSNP
16g.3728719C>ACA394553626CREBBPc.6328G>T (p.Ala2110Ser)
c.6214G>T (p.Ala2072Ser)
c.6283G>T (p.Ala2095Ser)
c.5911G>T (p.Ala1971Ser)
c.6067G>T (p.Ala2023Ser)
c.6274G>T (p.Ala2092Ser)
c.5575G>T (p.Ala1859Ser)
c.6322G>T (p.Ala2108Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728719C=CA2202928829CREBBPc.6328G= (p.Ala2110=)
c.6214G= (p.Ala2072=)
c.6283G= (p.Ala2095=)
c.5911G= (p.Ala1971=)
c.6067G= (p.Ala2023=)
c.6274G= (p.Ala2092=)
c.5575G= (p.Ala1859=)
c.6322G= (p.Ala2108=)
16g.3728719C>GCA394553627CREBBPc.6328G>C (p.Ala2110Pro)
c.6214G>C (p.Ala2072Pro)
c.6283G>C (p.Ala2095Pro)
c.5911G>C (p.Ala1971Pro)
c.6067G>C (p.Ala2023Pro)
c.6274G>C (p.Ala2092Pro)
c.5575G>C (p.Ala1859Pro)
c.6322G>C (p.Ala2108Pro)
 dbSNP
16g.3728719C>TCA394553628CREBBPc.6328G>A (p.Ala2110Thr)
c.6214G>A (p.Ala2072Thr)
c.6283G>A (p.Ala2095Thr)
c.5911G>A (p.Ala1971Thr)
c.6067G>A (p.Ala2023Thr)
c.6274G>A (p.Ala2092Thr)
c.5575G>A (p.Ala1859Thr)
c.6322G>A (p.Ala2108Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3728720C>ACA493393625CREBBPc.6327G>T (p.Val2109=)
c.6213G>T (p.Val2071=)
c.6282G>T (p.Val2094=)
c.5910G>T (p.Val1970=)
c.6066G>T (p.Val2022=)
c.6273G>T (p.Val2091=)
c.5574G>T (p.Val1858=)
c.6321G>T (p.Val2107=)
16g.3728720C=CA2202928830CREBBPc.6327G= (p.Val2109=)
c.6213G= (p.Val2071=)
c.6282G= (p.Val2094=)
c.5910G= (p.Val1970=)
c.6066G= (p.Val2022=)
c.6273G= (p.Val2091=)
c.5574G= (p.Val1858=)
c.6321G= (p.Val2107=)
16g.3728720C>GCA493393626CREBBPc.6327G>C (p.Val2109=)
c.6213G>C (p.Val2071=)
c.6282G>C (p.Val2094=)
c.5910G>C (p.Val1970=)
c.6066G>C (p.Val2022=)
c.6273G>C (p.Val2091=)
c.5574G>C (p.Val1858=)
c.6321G>C (p.Val2107=)
 ClinVar gnomAD v4
16g.3728720C>TCA493393627CREBBPc.6327G>A (p.Val2109=)
c.6213G>A (p.Val2071=)
c.6282G>A (p.Val2094=)
c.5910G>A (p.Val1970=)
c.6066G>A (p.Val2022=)
c.6273G>A (p.Val2091=)
c.5574G>A (p.Val1858=)
c.6321G>A (p.Val2107=)
 dbSNP gnomAD v4
16g.3728721A>CCA394553629CREBBPc.6326T>G (p.Val2109Gly)
c.6212T>G (p.Val2071Gly)
c.6281T>G (p.Val2094Gly)
c.5909T>G (p.Val1970Gly)
c.6065T>G (p.Val2022Gly)
c.6272T>G (p.Val2091Gly)
c.5573T>G (p.Val1858Gly)
c.6320T>G (p.Val2107Gly)
 dbSNP
16g.3728721A>GCA394553630CREBBPc.6326T>C (p.Val2109Ala)
c.6212T>C (p.Val2071Ala)
c.6281T>C (p.Val2094Ala)
c.5909T>C (p.Val1970Ala)
c.6065T>C (p.Val2022Ala)
c.6272T>C (p.Val2091Ala)
c.5573T>C (p.Val1858Ala)
c.6320T>C (p.Val2107Ala)
 dbSNP
16g.3728721A>TCA394553631CREBBPc.6326T>A (p.Val2109Glu)
c.6212T>A (p.Val2071Glu)
c.6281T>A (p.Val2094Glu)
c.5909T>A (p.Val1970Glu)
c.6065T>A (p.Val2022Glu)
c.6272T>A (p.Val2091Glu)
c.5573T>A (p.Val1858Glu)
c.6320T>A (p.Val2107Glu)
 dbSNP
16g.3728722C>ACA394553632CREBBPc.6325G>T (p.Val2109Leu)
c.6211G>T (p.Val2071Leu)
c.6280G>T (p.Val2094Leu)
c.5908G>T (p.Val1970Leu)
c.6064G>T (p.Val2022Leu)
c.6271G>T (p.Val2091Leu)
c.5572G>T (p.Val1858Leu)
c.6319G>T (p.Val2107Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728722C=CA2202928831CREBBPc.6325G= (p.Val2109=)
c.6211G= (p.Val2071=)
c.6280G= (p.Val2094=)
c.5908G= (p.Val1970=)
c.6064G= (p.Val2022=)
c.6271G= (p.Val2091=)
c.5572G= (p.Val1858=)
c.6319G= (p.Val2107=)
16g.3728722C>GCA394553633CREBBPc.6325G>C (p.Val2109Leu)
c.6211G>C (p.Val2071Leu)
c.6280G>C (p.Val2094Leu)
c.5908G>C (p.Val1970Leu)
c.6064G>C (p.Val2022Leu)
c.6271G>C (p.Val2091Leu)
c.5572G>C (p.Val1858Leu)
c.6319G>C (p.Val2107Leu)
 dbSNP gnomAD v4
16g.3728722C>TCA394553634CREBBPc.6325G>A (p.Val2109Met)
c.6211G>A (p.Val2071Met)
c.6280G>A (p.Val2094Met)
c.5908G>A (p.Val1970Met)
c.6064G>A (p.Val2022Met)
c.6271G>A (p.Val2091Met)
c.5572G>A (p.Val1858Met)
c.6319G>A (p.Val2107Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3728723G>ACA7869143CREBBPc.6324C>T (p.Tyr2108=)
c.6210C>T (p.Tyr2070=)
c.6279C>T (p.Tyr2093=)
c.5907C>T (p.Tyr1969=)
c.6063C>T (p.Tyr2021=)
c.6270C>T (p.Tyr2090=)
c.5571C>T (p.Tyr1857=)
c.6318C>T (p.Tyr2106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728723G>CCA394553635CREBBPc.6324C>G (p.Tyr2108Ter)
c.6210C>G (p.Tyr2070Ter)
c.6279C>G (p.Tyr2093Ter)
c.5907C>G (p.Tyr1969Ter)
c.6063C>G (p.Tyr2021Ter)
c.6270C>G (p.Tyr2090Ter)
c.5571C>G (p.Tyr1857Ter)
c.6318C>G (p.Tyr2106Ter)
 ClinVar dbSNP
16g.3728723G=CA2202928832CREBBPc.6324C= (p.Tyr2108=)
c.6210C= (p.Tyr2070=)
c.6279C= (p.Tyr2093=)
c.5907C= (p.Tyr1969=)
c.6063C= (p.Tyr2021=)
c.6270C= (p.Tyr2090=)
c.5571C= (p.Tyr1857=)
c.6318C= (p.Tyr2106=)
16g.3728723G>TCA394553636CREBBPc.6324C>A (p.Tyr2108Ter)
c.6210C>A (p.Tyr2070Ter)
c.6279C>A (p.Tyr2093Ter)
c.5907C>A (p.Tyr1969Ter)
c.6063C>A (p.Tyr2021Ter)
c.6270C>A (p.Tyr2090Ter)
c.5571C>A (p.Tyr1857Ter)
c.6318C>A (p.Tyr2106Ter)
 ClinVar dbSNP
16g.3728724_3728730delCA891842206CREBBPc.6318_6324del (p.Lys2107TrpfsTer?)
c.6204_6210del (p.Lys2069TrpfsTer?)
c.6273_6279del (p.Lys2092TrpfsTer?)
c.5901_5907del (p.Lys1968TrpfsTer?)
c.6057_6063del (p.Lys2020TrpfsTer?)
c.6264_6270del (p.Lys2089TrpfsTer?)
c.5565_5571del (p.Lys1856TrpfsTer?)
c.6312_6318del (p.Lys2105TrpfsTer?)
16g.3728724T>ACA394553637CREBBPc.6323A>T (p.Tyr2108Phe)
c.6209A>T (p.Tyr2070Phe)
c.6278A>T (p.Tyr2093Phe)
c.5906A>T (p.Tyr1969Phe)
c.6062A>T (p.Tyr2021Phe)
c.6269A>T (p.Tyr2090Phe)
c.5570A>T (p.Tyr1857Phe)
c.6317A>T (p.Tyr2106Phe)
 dbSNP gnomAD v4
16g.3728724T>CCA394553638CREBBPc.6323A>G (p.Tyr2108Cys)
c.6209A>G (p.Tyr2070Cys)
c.6278A>G (p.Tyr2093Cys)
c.5906A>G (p.Tyr1969Cys)
c.6062A>G (p.Tyr2021Cys)
c.6269A>G (p.Tyr2090Cys)
c.5570A>G (p.Tyr1857Cys)
c.6317A>G (p.Tyr2106Cys)
 dbSNP
16g.3728724T>GCA394553639CREBBPc.6323A>C (p.Tyr2108Ser)
c.6209A>C (p.Tyr2070Ser)
c.6278A>C (p.Tyr2093Ser)
c.5906A>C (p.Tyr1969Ser)
c.6062A>C (p.Tyr2021Ser)
c.6269A>C (p.Tyr2090Ser)
c.5570A>C (p.Tyr1857Ser)
c.6317A>C (p.Tyr2106Ser)
 dbSNP
16g.3728725A>CCA394553640CREBBPc.6322T>G (p.Tyr2108Asp)
c.6208T>G (p.Tyr2070Asp)
c.6277T>G (p.Tyr2093Asp)
c.5905T>G (p.Tyr1969Asp)
c.6061T>G (p.Tyr2021Asp)
c.6268T>G (p.Tyr2090Asp)
c.5569T>G (p.Tyr1857Asp)
c.6316T>G (p.Tyr2106Asp)
 dbSNP
16g.3728725A>GCA394553641CREBBPc.6322T>C (p.Tyr2108His)
c.6208T>C (p.Tyr2070His)
c.6277T>C (p.Tyr2093His)
c.5905T>C (p.Tyr1969His)
c.6061T>C (p.Tyr2021His)
c.6268T>C (p.Tyr2090His)
c.5569T>C (p.Tyr1857His)
c.6316T>C (p.Tyr2106His)
 dbSNP
16g.3728725A>TCA394553642CREBBPc.6322T>A (p.Tyr2108Asn)
c.6208T>A (p.Tyr2070Asn)
c.6277T>A (p.Tyr2093Asn)
c.5905T>A (p.Tyr1969Asn)
c.6061T>A (p.Tyr2021Asn)
c.6268T>A (p.Tyr2090Asn)
c.5569T>A (p.Tyr1857Asn)
c.6316T>A (p.Tyr2106Asn)
 dbSNP
16g.3728726C>ACA394553643CREBBPc.6321G>T (p.Lys2107Asn)
c.6207G>T (p.Lys2069Asn)
c.6276G>T (p.Lys2092Asn)
c.5904G>T (p.Lys1968Asn)
c.6060G>T (p.Lys2020Asn)
c.6267G>T (p.Lys2089Asn)
c.5568G>T (p.Lys1856Asn)
c.6315G>T (p.Lys2105Asn)
16g.3728726C>GCA394553644CREBBPc.6321G>C (p.Lys2107Asn)
c.6207G>C (p.Lys2069Asn)
c.6276G>C (p.Lys2092Asn)
c.5904G>C (p.Lys1968Asn)
c.6060G>C (p.Lys2020Asn)
c.6267G>C (p.Lys2089Asn)
c.5568G>C (p.Lys1856Asn)
c.6315G>C (p.Lys2105Asn)
 dbSNP
16g.3728726C>TCA493393628CREBBPc.6321G>A (p.Lys2107=)
c.6207G>A (p.Lys2069=)
c.6276G>A (p.Lys2092=)
c.5904G>A (p.Lys1968=)
c.6060G>A (p.Lys2020=)
c.6267G>A (p.Lys2089=)
c.5568G>A (p.Lys1856=)
c.6315G>A (p.Lys2105=)
 dbSNP
16g.3728727T>ACA394553645CREBBPc.6320A>T (p.Lys2107Met)
c.6206A>T (p.Lys2069Met)
c.6275A>T (p.Lys2092Met)
c.5903A>T (p.Lys1968Met)
c.6059A>T (p.Lys2020Met)
c.6266A>T (p.Lys2089Met)
c.5567A>T (p.Lys1856Met)
c.6314A>T (p.Lys2105Met)
 dbSNP
16g.3728727T>CCA394553646CREBBPc.6320A>G (p.Lys2107Arg)
c.6206A>G (p.Lys2069Arg)
c.6275A>G (p.Lys2092Arg)
c.5903A>G (p.Lys1968Arg)
c.6059A>G (p.Lys2020Arg)
c.6266A>G (p.Lys2089Arg)
c.5567A>G (p.Lys1856Arg)
c.6314A>G (p.Lys2105Arg)
16g.3728727T>GCA394553647CREBBPc.6320A>C (p.Lys2107Thr)
c.6206A>C (p.Lys2069Thr)
c.6275A>C (p.Lys2092Thr)
c.5903A>C (p.Lys1968Thr)
c.6059A>C (p.Lys2020Thr)
c.6266A>C (p.Lys2089Thr)
c.5567A>C (p.Lys1856Thr)
c.6314A>C (p.Lys2105Thr)
16g.3728728T>ACA394553650CREBBPc.6319A>T (p.Lys2107Ter)
c.6205A>T (p.Lys2069Ter)
c.6274A>T (p.Lys2092Ter)
c.5902A>T (p.Lys1968Ter)
c.6058A>T (p.Lys2020Ter)
c.6265A>T (p.Lys2089Ter)
c.5566A>T (p.Lys1856Ter)
c.6313A>T (p.Lys2105Ter)
16g.3728728T>CCA394553649CREBBPc.6319A>G (p.Lys2107Glu)
c.6205A>G (p.Lys2069Glu)
c.6274A>G (p.Lys2092Glu)
c.5902A>G (p.Lys1968Glu)
c.6058A>G (p.Lys2020Glu)
c.6265A>G (p.Lys2089Glu)
c.5566A>G (p.Lys1856Glu)
c.6313A>G (p.Lys2105Glu)
16g.3728728T>GCA394553648CREBBPc.6319A>C (p.Lys2107Gln)
c.6205A>C (p.Lys2069Gln)
c.6274A>C (p.Lys2092Gln)
c.5902A>C (p.Lys1968Gln)
c.6058A>C (p.Lys2020Gln)
c.6265A>C (p.Lys2089Gln)
c.5566A>C (p.Lys1856Gln)
c.6313A>C (p.Lys2105Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.3728728T=CA2202928833CREBBPc.6319A= (p.Lys2107=)
c.6205A= (p.Lys2069=)
c.6274A= (p.Lys2092=)
c.5902A= (p.Lys1968=)
c.6058A= (p.Lys2020=)
c.6265A= (p.Lys2089=)
c.5566A= (p.Lys1856=)
c.6313A= (p.Lys2105=)
16g.3728729G>ACA493393629CREBBPc.6318C>T (p.Ala2106=)
c.6204C>T (p.Ala2068=)
c.6273C>T (p.Ala2091=)
c.5901C>T (p.Ala1967=)
c.6057C>T (p.Ala2019=)
c.6264C>T (p.Ala2088=)
c.5565C>T (p.Ala1855=)
c.6312C>T (p.Ala2104=)
 dbSNP
16g.3728729G>CCA493393630CREBBPc.6318C>G (p.Ala2106=)
c.6204C>G (p.Ala2068=)
c.6273C>G (p.Ala2091=)
c.5901C>G (p.Ala1967=)
c.6057C>G (p.Ala2019=)
c.6264C>G (p.Ala2088=)
c.5565C>G (p.Ala1855=)
c.6312C>G (p.Ala2104=)
 dbSNP
16g.3728729G>TCA493393631CREBBPc.6318C>A (p.Ala2106=)
c.6204C>A (p.Ala2068=)
c.6273C>A (p.Ala2091=)
c.5901C>A (p.Ala1967=)
c.6057C>A (p.Ala2019=)
c.6264C>A (p.Ala2088=)
c.5565C>A (p.Ala1855=)
c.6312C>A (p.Ala2104=)
 dbSNP
16g.3728730G>ACA394553651CREBBPc.6317C>T (p.Ala2106Val)
c.6203C>T (p.Ala2068Val)
c.6272C>T (p.Ala2091Val)
c.5900C>T (p.Ala1967Val)
c.6056C>T (p.Ala2019Val)
c.6263C>T (p.Ala2088Val)
c.5564C>T (p.Ala1855Val)
c.6311C>T (p.Ala2104Val)
 dbSNP
16g.3728730G>CCA394553653CREBBPc.6317C>G (p.Ala2106Gly)
c.6203C>G (p.Ala2068Gly)
c.6272C>G (p.Ala2091Gly)
c.5900C>G (p.Ala1967Gly)
c.6056C>G (p.Ala2019Gly)
c.6263C>G (p.Ala2088Gly)
c.5564C>G (p.Ala1855Gly)
c.6311C>G (p.Ala2104Gly)
 dbSNP
16g.3728730G>TCA394553652CREBBPc.6317C>A (p.Ala2106Asp)
c.6203C>A (p.Ala2068Asp)
c.6272C>A (p.Ala2091Asp)
c.5900C>A (p.Ala1967Asp)
c.6056C>A (p.Ala2019Asp)
c.6263C>A (p.Ala2088Asp)
c.5564C>A (p.Ala1855Asp)
c.6311C>A (p.Ala2104Asp)
 dbSNP
16g.3728731C>ACA394553654CREBBPc.6316G>T (p.Ala2106Ser)
c.6202G>T (p.Ala2068Ser)
c.6271G>T (p.Ala2091Ser)
c.5899G>T (p.Ala1967Ser)
c.6055G>T (p.Ala2019Ser)
c.6262G>T (p.Ala2088Ser)
c.5563G>T (p.Ala1855Ser)
c.6310G>T (p.Ala2104Ser)
16g.3728731C>GCA394553655CREBBPc.6316G>C (p.Ala2106Pro)
c.6202G>C (p.Ala2068Pro)
c.6271G>C (p.Ala2091Pro)
c.5899G>C (p.Ala1967Pro)
c.6055G>C (p.Ala2019Pro)
c.6262G>C (p.Ala2088Pro)
c.5563G>C (p.Ala1855Pro)
c.6310G>C (p.Ala2104Pro)
16g.3728731C>TCA394553656CREBBPc.6316G>A (p.Ala2106Thr)
c.6202G>A (p.Ala2068Thr)
c.6271G>A (p.Ala2091Thr)
c.5899G>A (p.Ala1967Thr)
c.6055G>A (p.Ala2019Thr)
c.6262G>A (p.Ala2088Thr)
c.5563G>A (p.Ala1855Thr)
c.6310G>A (p.Ala2104Thr)
16g.3728732T>ACA493393632CREBBPc.6315A>T (p.Thr2105=)
c.6201A>T (p.Thr2067=)
c.6270A>T (p.Thr2090=)
c.5898A>T (p.Thr1966=)
c.6054A>T (p.Thr2018=)
c.6261A>T (p.Thr2087=)
c.5562A>T (p.Thr1854=)
c.6309A>T (p.Thr2103=)
 dbSNP gnomAD v2 gnomAD v4
16g.3728732T>CCA493393633CREBBPc.6315A>G (p.Thr2105=)
c.6201A>G (p.Thr2067=)
c.6270A>G (p.Thr2090=)
c.5898A>G (p.Thr1966=)
c.6054A>G (p.Thr2018=)
c.6261A>G (p.Thr2087=)
c.5562A>G (p.Thr1854=)
c.6309A>G (p.Thr2103=)
 ClinVar dbSNP gnomAD v4
16g.3728732T>GCA493393634CREBBPc.6315A>C (p.Thr2105=)
c.6201A>C (p.Thr2067=)
c.6270A>C (p.Thr2090=)
c.5898A>C (p.Thr1966=)
c.6054A>C (p.Thr2018=)
c.6261A>C (p.Thr2087=)
c.5562A>C (p.Thr1854=)
c.6309A>C (p.Thr2103=)
 gnomAD v4
16g.3728732T=CA2202928834CREBBPc.6315A= (p.Thr2105=)
c.6201A= (p.Thr2067=)
c.6270A= (p.Thr2090=)
c.5898A= (p.Thr1966=)
c.6054A= (p.Thr2018=)
c.6261A= (p.Thr2087=)
c.5562A= (p.Thr1854=)
c.6309A= (p.Thr2103=)
16g.3728733G>ACA394553657CREBBPc.6314C>T (p.Thr2105Ile)
c.6200C>T (p.Thr2067Ile)
c.6269C>T (p.Thr2090Ile)
c.5897C>T (p.Thr1966Ile)
c.6053C>T (p.Thr2018Ile)
c.6260C>T (p.Thr2087Ile)
c.5561C>T (p.Thr1854Ile)
c.6308C>T (p.Thr2103Ile)
 dbSNP
16g.3728733G>CCA394553658CREBBPc.6314C>G (p.Thr2105Arg)
c.6200C>G (p.Thr2067Arg)
c.6269C>G (p.Thr2090Arg)
c.5897C>G (p.Thr1966Arg)
c.6053C>G (p.Thr2018Arg)
c.6260C>G (p.Thr2087Arg)
c.5561C>G (p.Thr1854Arg)
c.6308C>G (p.Thr2103Arg)
 dbSNP
16g.3728733G>TCA394553659CREBBPc.6314C>A (p.Thr2105Lys)
c.6200C>A (p.Thr2067Lys)
c.6269C>A (p.Thr2090Lys)
c.5897C>A (p.Thr1966Lys)
c.6053C>A (p.Thr2018Lys)
c.6260C>A (p.Thr2087Lys)
c.5561C>A (p.Thr1854Lys)
c.6308C>A (p.Thr2103Lys)
16g.3728734T>ACA394553660CREBBPc.6313A>T (p.Thr2105Ser)
c.6199A>T (p.Thr2067Ser)
c.6268A>T (p.Thr2090Ser)
c.5896A>T (p.Thr1966Ser)
c.6052A>T (p.Thr2018Ser)
c.6259A>T (p.Thr2087Ser)
c.5560A>T (p.Thr1854Ser)
c.6307A>T (p.Thr2103Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3728734T>CCA7869144CREBBPc.6313A>G (p.Thr2105Ala)
c.6199A>G (p.Thr2067Ala)
c.6268A>G (p.Thr2090Ala)
c.5896A>G (p.Thr1966Ala)
c.6052A>G (p.Thr2018Ala)
c.6259A>G (p.Thr2087Ala)
c.5560A>G (p.Thr1854Ala)
c.6307A>G (p.Thr2103Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728734T>GCA394553661CREBBPc.6313A>C (p.Thr2105Pro)
c.6199A>C (p.Thr2067Pro)
c.6268A>C (p.Thr2090Pro)
c.5896A>C (p.Thr1966Pro)
c.6052A>C (p.Thr2018Pro)
c.6259A>C (p.Thr2087Pro)
c.5560A>C (p.Thr1854Pro)
c.6307A>C (p.Thr2103Pro)
 ClinVar dbSNP
16g.3728734T=CA2202928835CREBBPc.6313A= (p.Thr2105=)
c.6199A= (p.Thr2067=)
c.6268A= (p.Thr2090=)
c.5896A= (p.Thr1966=)
c.6052A= (p.Thr2018=)
c.6259A= (p.Thr2087=)
c.5560A= (p.Thr1854=)
c.6307A= (p.Thr2103=)
16g.3728735G>ACA493393635CREBBPc.6312C>T (p.Arg2104=)
c.6198C>T (p.Arg2066=)
c.6267C>T (p.Arg2089=)
c.5895C>T (p.Arg1965=)
c.6051C>T (p.Arg2017=)
c.6258C>T (p.Arg2086=)
c.5559C>T (p.Arg1853=)
c.6306C>T (p.Arg2102=)
 dbSNP
16g.3728735G>CCA493393636CREBBPc.6312C>G (p.Arg2104=)
c.6198C>G (p.Arg2066=)
c.6267C>G (p.Arg2089=)
c.5895C>G (p.Arg1965=)
c.6051C>G (p.Arg2017=)
c.6258C>G (p.Arg2086=)
c.5559C>G (p.Arg1853=)
c.6306C>G (p.Arg2102=)
 dbSNP gnomAD v4
16g.3728735G>TCA493393637CREBBPc.6312C>A (p.Arg2104=)
c.6198C>A (p.Arg2066=)
c.6267C>A (p.Arg2089=)
c.5895C>A (p.Arg1965=)
c.6051C>A (p.Arg2017=)
c.6258C>A (p.Arg2086=)
c.5559C>A (p.Arg1853=)
c.6306C>A (p.Arg2102=)
16g.3728736C>ACA394553662CREBBPc.6311G>T (p.Arg2104Leu)
c.6197G>T (p.Arg2066Leu)
c.6266G>T (p.Arg2089Leu)
c.5894G>T (p.Arg1965Leu)
c.6050G>T (p.Arg2017Leu)
c.6257G>T (p.Arg2086Leu)
c.5558G>T (p.Arg1853Leu)
c.6305G>T (p.Arg2102Leu)
 dbSNP
16g.3728736C>GCA394553663CREBBPc.6311G>C (p.Arg2104Pro)
c.6197G>C (p.Arg2066Pro)
c.6266G>C (p.Arg2089Pro)
c.5894G>C (p.Arg1965Pro)
c.6050G>C (p.Arg2017Pro)
c.6257G>C (p.Arg2086Pro)
c.5558G>C (p.Arg1853Pro)
c.6305G>C (p.Arg2102Pro)
 dbSNP gnomAD v4 COSMIC
16g.3728736C>TCA394553664CREBBPc.6311G>A (p.Arg2104His)
c.6197G>A (p.Arg2066His)
c.6266G>A (p.Arg2089His)
c.5894G>A (p.Arg1965His)
c.6050G>A (p.Arg2017His)
c.6257G>A (p.Arg2086His)
c.5558G>A (p.Arg1853His)
c.6305G>A (p.Arg2102His)
 dbSNP gnomAD v4
16g.3728737G>ACA394553667CREBBPc.6310C>T (p.Arg2104Cys)
c.6196C>T (p.Arg2066Cys)
c.6265C>T (p.Arg2089Cys)
c.5893C>T (p.Arg1965Cys)
c.6049C>T (p.Arg2017Cys)
c.6256C>T (p.Arg2086Cys)
c.5557C>T (p.Arg1853Cys)
c.6304C>T (p.Arg2102Cys)
 ClinVar dbSNP COSMIC
16g.3728737G>CCA394553665CREBBPc.6310C>G (p.Arg2104Gly)
c.6196C>G (p.Arg2066Gly)
c.6265C>G (p.Arg2089Gly)
c.5893C>G (p.Arg1965Gly)
c.6049C>G (p.Arg2017Gly)
c.6256C>G (p.Arg2086Gly)
c.5557C>G (p.Arg1853Gly)
c.6304C>G (p.Arg2102Gly)
 dbSNP gnomAD v4
16g.3728737G=CA2202928836CREBBPc.6310C= (p.Arg2104=)
c.6196C= (p.Arg2066=)
c.6265C= (p.Arg2089=)
c.5893C= (p.Arg1965=)
c.6049C= (p.Arg2017=)
c.6256C= (p.Arg2086=)
c.5557C= (p.Arg1853=)
c.6304C= (p.Arg2102=)
16g.3728737G>TCA394553666CREBBPc.6310C>A (p.Arg2104Ser)
c.6196C>A (p.Arg2066Ser)
c.6265C>A (p.Arg2089Ser)
c.5893C>A (p.Arg1965Ser)
c.6049C>A (p.Arg2017Ser)
c.6256C>A (p.Arg2086Ser)
c.5557C>A (p.Arg1853Ser)
c.6304C>A (p.Arg2102Ser)
 dbSNP

Number of alleles fetched