Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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.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
16g.3728738C>ACA394553668CREBBPc.6309G>T (p.Gln2103His)
c.6195G>T (p.Gln2065His)
c.6264G>T (p.Gln2088His)
c.5892G>T (p.Gln1964His)
c.6048G>T (p.Gln2016His)
c.6255G>T (p.Gln2085His)
c.5556G>T (p.Gln1852His)
c.6303G>T (p.Gln2101His)
dbSNP
16g.3728738C=CA2202928837CREBBPc.6309G= (p.Gln2103=)
c.6195G= (p.Gln2065=)
c.6264G= (p.Gln2088=)
c.5892G= (p.Gln1964=)
c.6048G= (p.Gln2016=)
c.6255G= (p.Gln2085=)
c.5556G= (p.Gln1852=)
c.6303G= (p.Gln2101=)
16g.3728738C>GCA394553669CREBBPc.6309G>C (p.Gln2103His)
c.6195G>C (p.Gln2065His)
c.6264G>C (p.Gln2088His)
c.5892G>C (p.Gln1964His)
c.6048G>C (p.Gln2016His)
c.6255G>C (p.Gln2085His)
c.5556G>C (p.Gln1852His)
c.6303G>C (p.Gln2101His)
dbSNP
16g.3728738C>TCA7869145CREBBPc.6309G>A (p.Gln2103=)
c.6195G>A (p.Gln2065=)
c.6264G>A (p.Gln2088=)
c.5892G>A (p.Gln1964=)
c.6048G>A (p.Gln2016=)
c.6255G>A (p.Gln2085=)
c.5556G>A (p.Gln1852=)
c.6303G>A (p.Gln2101=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728739T>ACA394553670CREBBPc.6308A>T (p.Gln2103Leu)
c.6194A>T (p.Gln2065Leu)
c.6263A>T (p.Gln2088Leu)
c.5891A>T (p.Gln1964Leu)
c.6047A>T (p.Gln2016Leu)
c.6254A>T (p.Gln2085Leu)
c.5555A>T (p.Gln1852Leu)
c.6302A>T (p.Gln2101Leu)
dbSNP
16g.3728739T>CCA394553671CREBBPc.6308A>G (p.Gln2103Arg)
c.6194A>G (p.Gln2065Arg)
c.6263A>G (p.Gln2088Arg)
c.5891A>G (p.Gln1964Arg)
c.6047A>G (p.Gln2016Arg)
c.6254A>G (p.Gln2085Arg)
c.5555A>G (p.Gln1852Arg)
c.6302A>G (p.Gln2101Arg)
dbSNP
16g.3728739T>GCA394553672CREBBPc.6308A>C (p.Gln2103Pro)
c.6194A>C (p.Gln2065Pro)
c.6263A>C (p.Gln2088Pro)
c.5891A>C (p.Gln1964Pro)
c.6047A>C (p.Gln2016Pro)
c.6254A>C (p.Gln2085Pro)
c.5555A>C (p.Gln1852Pro)
c.6302A>C (p.Gln2101Pro)
dbSNP
16g.3728740G>ACA394553673CREBBPc.6307C>T (p.Gln2103Ter)
c.6193C>T (p.Gln2065Ter)
c.6262C>T (p.Gln2088Ter)
c.5890C>T (p.Gln1964Ter)
c.6046C>T (p.Gln2016Ter)
c.6253C>T (p.Gln2085Ter)
c.5554C>T (p.Gln1852Ter)
c.6301C>T (p.Gln2101Ter)
ClinVar
16g.3728740G>CCA394553674CREBBPc.6307C>G (p.Gln2103Glu)
c.6193C>G (p.Gln2065Glu)
c.6262C>G (p.Gln2088Glu)
c.5890C>G (p.Gln1964Glu)
c.6046C>G (p.Gln2016Glu)
c.6253C>G (p.Gln2085Glu)
c.5554C>G (p.Gln1852Glu)
c.6301C>G (p.Gln2101Glu)
16g.3728740G=CA2202928838CREBBPc.6307C= (p.Gln2103=)
c.6193C= (p.Gln2065=)
c.6262C= (p.Gln2088=)
c.5890C= (p.Gln1964=)
c.6046C= (p.Gln2016=)
c.6253C= (p.Gln2085=)
c.5554C= (p.Gln1852=)
c.6301C= (p.Gln2101=)
16g.3728740G>TCA394553675CREBBPc.6307C>A (p.Gln2103Lys)
c.6193C>A (p.Gln2065Lys)
c.6262C>A (p.Gln2088Lys)
c.5890C>A (p.Gln1964Lys)
c.6046C>A (p.Gln2016Lys)
c.6253C>A (p.Gln2085Lys)
c.5554C>A (p.Gln1852Lys)
c.6301C>A (p.Gln2101Lys)
dbSNP
16g.3728741T>ACA394553676CREBBPc.6306A>T (p.Lys2102Asn)
c.6192A>T (p.Lys2064Asn)
c.6261A>T (p.Lys2087Asn)
c.5889A>T (p.Lys1963Asn)
c.6045A>T (p.Lys2015Asn)
c.6252A>T (p.Lys2084Asn)
c.5553A>T (p.Lys1851Asn)
c.6300A>T (p.Lys2100Asn)
dbSNP
16g.3728741T>CCA493393638CREBBPc.6306A>G (p.Lys2102=)
c.6192A>G (p.Lys2064=)
c.6261A>G (p.Lys2087=)
c.5889A>G (p.Lys1963=)
c.6045A>G (p.Lys2015=)
c.6252A>G (p.Lys2084=)
c.5553A>G (p.Lys1851=)
c.6300A>G (p.Lys2100=)
dbSNP
16g.3728741T>GCA394553677CREBBPc.6306A>C (p.Lys2102Asn)
c.6192A>C (p.Lys2064Asn)
c.6261A>C (p.Lys2087Asn)
c.5889A>C (p.Lys1963Asn)
c.6045A>C (p.Lys2015Asn)
c.6252A>C (p.Lys2084Asn)
c.5553A>C (p.Lys1851Asn)
c.6300A>C (p.Lys2100Asn)
dbSNP
16g.3728742T>ACA394553680CREBBPc.6305A>T (p.Lys2102Ile)
c.6191A>T (p.Lys2064Ile)
c.6260A>T (p.Lys2087Ile)
c.5888A>T (p.Lys1963Ile)
c.6044A>T (p.Lys2015Ile)
c.6251A>T (p.Lys2084Ile)
c.5552A>T (p.Lys1851Ile)
c.6299A>T (p.Lys2100Ile)
16g.3728742T>CCA394553679CREBBPc.6305A>G (p.Lys2102Arg)
c.6191A>G (p.Lys2064Arg)
c.6260A>G (p.Lys2087Arg)
c.5888A>G (p.Lys1963Arg)
c.6044A>G (p.Lys2015Arg)
c.6251A>G (p.Lys2084Arg)
c.5552A>G (p.Lys1851Arg)
c.6299A>G (p.Lys2100Arg)
dbSNP
16g.3728742T>GCA394553678CREBBPc.6305A>C (p.Lys2102Thr)
c.6191A>C (p.Lys2064Thr)
c.6260A>C (p.Lys2087Thr)
c.5888A>C (p.Lys1963Thr)
c.6044A>C (p.Lys2015Thr)
c.6251A>C (p.Lys2084Thr)
c.5552A>C (p.Lys1851Thr)
c.6299A>C (p.Lys2100Thr)
dbSNP
16g.3728743T>ACA394553681CREBBPc.6304A>T (p.Lys2102Ter)
c.6190A>T (p.Lys2064Ter)
c.6259A>T (p.Lys2087Ter)
c.5887A>T (p.Lys1963Ter)
c.6043A>T (p.Lys2015Ter)
c.6250A>T (p.Lys2084Ter)
c.5551A>T (p.Lys1851Ter)
c.6298A>T (p.Lys2100Ter)
dbSNP
16g.3728743T>CCA7869146CREBBPc.6304A>G (p.Lys2102Glu)
c.6190A>G (p.Lys2064Glu)
c.6259A>G (p.Lys2087Glu)
c.5887A>G (p.Lys1963Glu)
c.6043A>G (p.Lys2015Glu)
c.6250A>G (p.Lys2084Glu)
c.5551A>G (p.Lys1851Glu)
c.6298A>G (p.Lys2100Glu)
ClinVar dbSNP ExAC gnomAD v2
16g.3728743T>GCA394553682CREBBPc.6304A>C (p.Lys2102Gln)
c.6190A>C (p.Lys2064Gln)
c.6259A>C (p.Lys2087Gln)
c.5887A>C (p.Lys1963Gln)
c.6043A>C (p.Lys2015Gln)
c.6250A>C (p.Lys2084Gln)
c.5551A>C (p.Lys1851Gln)
c.6298A>C (p.Lys2100Gln)
16g.3728743T=CA2202928839CREBBPc.6304A= (p.Lys2102=)
c.6190A= (p.Lys2064=)
c.6259A= (p.Lys2087=)
c.5887A= (p.Lys1963=)
c.6043A= (p.Lys2015=)
c.6250A= (p.Lys2084=)
c.5551A= (p.Lys1851=)
c.6298A= (p.Lys2100=)
16g.3728744G>ACA7869147CREBBPc.6303C>T (p.Ile2101=)
c.6189C>T (p.Ile2063=)
c.6258C>T (p.Ile2086=)
c.5886C>T (p.Ile1962=)
c.6042C>T (p.Ile2014=)
c.6249C>T (p.Ile2083=)
c.5550C>T (p.Ile1850=)
c.6297C>T (p.Ile2099=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728744G>CCA394553683CREBBPc.6303C>G (p.Ile2101Met)
c.6189C>G (p.Ile2063Met)
c.6258C>G (p.Ile2086Met)
c.5886C>G (p.Ile1962Met)
c.6042C>G (p.Ile2014Met)
c.6249C>G (p.Ile2083Met)
c.5550C>G (p.Ile1850Met)
c.6297C>G (p.Ile2099Met)
ClinVar dbSNP COSMIC
16g.3728744G=CA2202928840CREBBPc.6303C= (p.Ile2101=)
c.6189C= (p.Ile2063=)
c.6258C= (p.Ile2086=)
c.5886C= (p.Ile1962=)
c.6042C= (p.Ile2014=)
c.6249C= (p.Ile2083=)
c.5550C= (p.Ile1850=)
c.6297C= (p.Ile2099=)
16g.3728744G>TCA493393639CREBBPc.6303C>A (p.Ile2101=)
c.6189C>A (p.Ile2063=)
c.6258C>A (p.Ile2086=)
c.5886C>A (p.Ile1962=)
c.6042C>A (p.Ile2014=)
c.6249C>A (p.Ile2083=)
c.5550C>A (p.Ile1850=)
c.6297C>A (p.Ile2099=)
dbSNP gnomAD v2 gnomAD v4
16g.3728745A>CCA394553684CREBBPc.6302T>G (p.Ile2101Ser)
c.6188T>G (p.Ile2063Ser)
c.6257T>G (p.Ile2086Ser)
c.5885T>G (p.Ile1962Ser)
c.6041T>G (p.Ile2014Ser)
c.6248T>G (p.Ile2083Ser)
c.5549T>G (p.Ile1850Ser)
c.6296T>G (p.Ile2099Ser)
16g.3728745A>GCA394553685CREBBPc.6302T>C (p.Ile2101Thr)
c.6188T>C (p.Ile2063Thr)
c.6257T>C (p.Ile2086Thr)
c.5885T>C (p.Ile1962Thr)
c.6041T>C (p.Ile2014Thr)
c.6248T>C (p.Ile2083Thr)
c.5549T>C (p.Ile1850Thr)
c.6296T>C (p.Ile2099Thr)
16g.3728745A>TCA394553686CREBBPc.6302T>A (p.Ile2101Asn)
c.6188T>A (p.Ile2063Asn)
c.6257T>A (p.Ile2086Asn)
c.5885T>A (p.Ile1962Asn)
c.6041T>A (p.Ile2014Asn)
c.6248T>A (p.Ile2083Asn)
c.5549T>A (p.Ile1850Asn)
c.6296T>A (p.Ile2099Asn)
16g.3728746T>ACA394553687CREBBPc.6301A>T (p.Ile2101Phe)
c.6187A>T (p.Ile2063Phe)
c.6256A>T (p.Ile2086Phe)
c.5884A>T (p.Ile1962Phe)
c.6040A>T (p.Ile2014Phe)
c.6247A>T (p.Ile2083Phe)
c.5548A>T (p.Ile1850Phe)
c.6295A>T (p.Ile2099Phe)
16g.3728746T>CCA394553688CREBBPc.6301A>G (p.Ile2101Val)
c.6187A>G (p.Ile2063Val)
c.6256A>G (p.Ile2086Val)
c.5884A>G (p.Ile1962Val)
c.6040A>G (p.Ile2014Val)
c.6247A>G (p.Ile2083Val)
c.5548A>G (p.Ile1850Val)
c.6295A>G (p.Ile2099Val)
ClinVar
16g.3728746T>GCA394553689CREBBPc.6301A>C (p.Ile2101Leu)
c.6187A>C (p.Ile2063Leu)
c.6256A>C (p.Ile2086Leu)
c.5884A>C (p.Ile1962Leu)
c.6040A>C (p.Ile2014Leu)
c.6247A>C (p.Ile2083Leu)
c.5548A>C (p.Ile1850Leu)
c.6295A>C (p.Ile2099Leu)
16g.3728747G>ACA493393640CREBBPc.6300C>T (p.Phe2100=)
c.6186C>T (p.Phe2062=)
c.6255C>T (p.Phe2085=)
c.5883C>T (p.Phe1961=)
c.6039C>T (p.Phe2013=)
c.6246C>T (p.Phe2082=)
c.5547C>T (p.Phe1849=)
c.6294C>T (p.Phe2098=)
dbSNP gnomAD v4
16g.3728747G>CCA394553690CREBBPc.6300C>G (p.Phe2100Leu)
c.6186C>G (p.Phe2062Leu)
c.6255C>G (p.Phe2085Leu)
c.5883C>G (p.Phe1961Leu)
c.6039C>G (p.Phe2013Leu)
c.6246C>G (p.Phe2082Leu)
c.5547C>G (p.Phe1849Leu)
c.6294C>G (p.Phe2098Leu)
dbSNP
16g.3728747G>TCA394553691CREBBPc.6300C>A (p.Phe2100Leu)
c.6186C>A (p.Phe2062Leu)
c.6255C>A (p.Phe2085Leu)
c.5883C>A (p.Phe1961Leu)
c.6039C>A (p.Phe2013Leu)
c.6246C>A (p.Phe2082Leu)
c.5547C>A (p.Phe1849Leu)
c.6294C>A (p.Phe2098Leu)
16g.3728748A>CCA394553694CREBBPc.6299T>G (p.Phe2100Cys)
c.6185T>G (p.Phe2062Cys)
c.6254T>G (p.Phe2085Cys)
c.5882T>G (p.Phe1961Cys)
c.6038T>G (p.Phe2013Cys)
c.6245T>G (p.Phe2082Cys)
c.5546T>G (p.Phe1849Cys)
c.6293T>G (p.Phe2098Cys)
16g.3728748A>GCA394553692CREBBPc.6299T>C (p.Phe2100Ser)
c.6185T>C (p.Phe2062Ser)
c.6254T>C (p.Phe2085Ser)
c.5882T>C (p.Phe1961Ser)
c.6038T>C (p.Phe2013Ser)
c.6245T>C (p.Phe2082Ser)
c.5546T>C (p.Phe1849Ser)
c.6293T>C (p.Phe2098Ser)
16g.3728748A>TCA394553693CREBBPc.6299T>A (p.Phe2100Tyr)
c.6185T>A (p.Phe2062Tyr)
c.6254T>A (p.Phe2085Tyr)
c.5882T>A (p.Phe1961Tyr)
c.6038T>A (p.Phe2013Tyr)
c.6245T>A (p.Phe2082Tyr)
c.5546T>A (p.Phe1849Tyr)
c.6293T>A (p.Phe2098Tyr)
16g.3728749A>CCA394553695CREBBPc.6298T>G (p.Phe2100Val)
c.6184T>G (p.Phe2062Val)
c.6253T>G (p.Phe2085Val)
c.5881T>G (p.Phe1961Val)
c.6037T>G (p.Phe2013Val)
c.6244T>G (p.Phe2082Val)
c.5545T>G (p.Phe1849Val)
c.6292T>G (p.Phe2098Val)
16g.3728749A>GCA394553696CREBBPc.6298T>C (p.Phe2100Leu)
c.6184T>C (p.Phe2062Leu)
c.6253T>C (p.Phe2085Leu)
c.5881T>C (p.Phe1961Leu)
c.6037T>C (p.Phe2013Leu)
c.6244T>C (p.Phe2082Leu)
c.5545T>C (p.Phe1849Leu)
c.6292T>C (p.Phe2098Leu)
16g.3728749A>TCA394553697CREBBPc.6298T>A (p.Phe2100Ile)
c.6184T>A (p.Phe2062Ile)
c.6253T>A (p.Phe2085Ile)
c.5881T>A (p.Phe1961Ile)
c.6037T>A (p.Phe2013Ile)
c.6244T>A (p.Phe2082Ile)
c.5545T>A (p.Phe1849Ile)
c.6292T>A (p.Phe2098Ile)
dbSNP
16g.3728750A>CCA493393641CREBBPc.6297T>G (p.Ala2099=)
c.6183T>G (p.Ala2061=)
c.6252T>G (p.Ala2084=)
c.5880T>G (p.Ala1960=)
c.6036T>G (p.Ala2012=)
c.6243T>G (p.Ala2081=)
c.5544T>G (p.Ala1848=)
c.6291T>G (p.Ala2097=)
16g.3728750A>GCA493393642CREBBPc.6297T>C (p.Ala2099=)
c.6183T>C (p.Ala2061=)
c.6252T>C (p.Ala2084=)
c.5880T>C (p.Ala1960=)
c.6036T>C (p.Ala2012=)
c.6243T>C (p.Ala2081=)
c.5544T>C (p.Ala1848=)
c.6291T>C (p.Ala2097=)
16g.3728750A>TCA493393643CREBBPc.6297T>A (p.Ala2099=)
c.6183T>A (p.Ala2061=)
c.6252T>A (p.Ala2084=)
c.5880T>A (p.Ala1960=)
c.6036T>A (p.Ala2012=)
c.6243T>A (p.Ala2081=)
c.5544T>A (p.Ala1848=)
c.6291T>A (p.Ala2097=)
dbSNP
16g.3728751G>ACA394553698CREBBPc.6296C>T (p.Ala2099Val)
c.6182C>T (p.Ala2061Val)
c.6251C>T (p.Ala2084Val)
c.5879C>T (p.Ala1960Val)
c.6035C>T (p.Ala2012Val)
c.6242C>T (p.Ala2081Val)
c.5543C>T (p.Ala1848Val)
c.6290C>T (p.Ala2097Val)
dbSNP
16g.3728751G>CCA7869148CREBBPc.6296C>G (p.Ala2099Gly)
c.6182C>G (p.Ala2061Gly)
c.6251C>G (p.Ala2084Gly)
c.5879C>G (p.Ala1960Gly)
c.6035C>G (p.Ala2012Gly)
c.6242C>G (p.Ala2081Gly)
c.5543C>G (p.Ala1848Gly)
c.6290C>G (p.Ala2097Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728751G=CA2202928841CREBBPc.6296C= (p.Ala2099=)
c.6182C= (p.Ala2061=)
c.6251C= (p.Ala2084=)
c.5879C= (p.Ala1960=)
c.6035C= (p.Ala2012=)
c.6242C= (p.Ala2081=)
c.5543C= (p.Ala1848=)
c.6290C= (p.Ala2097=)
16g.3728751G>TCA394553699CREBBPc.6296C>A (p.Ala2099Asp)
c.6182C>A (p.Ala2061Asp)
c.6251C>A (p.Ala2084Asp)
c.5879C>A (p.Ala1960Asp)
c.6035C>A (p.Ala2012Asp)
c.6242C>A (p.Ala2081Asp)
c.5543C>A (p.Ala1848Asp)
c.6290C>A (p.Ala2097Asp)
dbSNP
16g.3728752C>ACA394553700CREBBPc.6295G>T (p.Ala2099Ser)
c.6181G>T (p.Ala2061Ser)
c.6250G>T (p.Ala2084Ser)
c.5878G>T (p.Ala1960Ser)
c.6034G>T (p.Ala2012Ser)
c.6241G>T (p.Ala2081Ser)
c.5542G>T (p.Ala1848Ser)
c.6289G>T (p.Ala2097Ser)
dbSNP
16g.3728752C=CA2202928842CREBBPc.6295G= (p.Ala2099=)
c.6181G= (p.Ala2061=)
c.6250G= (p.Ala2084=)
c.5878G= (p.Ala1960=)
c.6034G= (p.Ala2012=)
c.6241G= (p.Ala2081=)
c.5542G= (p.Ala1848=)
c.6289G= (p.Ala2097=)
16g.3728752C>GCA394553701CREBBPc.6295G>C (p.Ala2099Pro)
c.6181G>C (p.Ala2061Pro)
c.6250G>C (p.Ala2084Pro)
c.5878G>C (p.Ala1960Pro)
c.6034G>C (p.Ala2012Pro)
c.6241G>C (p.Ala2081Pro)
c.5542G>C (p.Ala1848Pro)
c.6289G>C (p.Ala2097Pro)
dbSNP
16g.3728752C>TCA7869149CREBBPc.6295G>A (p.Ala2099Thr)
c.6181G>A (p.Ala2061Thr)
c.6250G>A (p.Ala2084Thr)
c.5878G>A (p.Ala1960Thr)
c.6034G>A (p.Ala2012Thr)
c.6241G>A (p.Ala2081Thr)
c.5542G>A (p.Ala1848Thr)
c.6289G>A (p.Ala2097Thr)
dbSNP ExAC gnomAD v2
16g.3728753T>ACA493393644CREBBPc.6294A>T (p.Ala2098=)
c.6180A>T (p.Ala2060=)
c.6249A>T (p.Ala2083=)
c.5877A>T (p.Ala1959=)
c.6033A>T (p.Ala2011=)
c.6240A>T (p.Ala2080=)
c.5541A>T (p.Ala1847=)
c.6288A>T (p.Ala2096=)
dbSNP
16g.3728753T>CCA493393645CREBBPc.6294A>G (p.Ala2098=)
c.6180A>G (p.Ala2060=)
c.6249A>G (p.Ala2083=)
c.5877A>G (p.Ala1959=)
c.6033A>G (p.Ala2011=)
c.6240A>G (p.Ala2080=)
c.5541A>G (p.Ala1847=)
c.6288A>G (p.Ala2096=)
16g.3728753T>GCA493393646CREBBPc.6294A>C (p.Ala2098=)
c.6180A>C (p.Ala2060=)
c.6249A>C (p.Ala2083=)
c.5877A>C (p.Ala1959=)
c.6033A>C (p.Ala2011=)
c.6240A>C (p.Ala2080=)
c.5541A>C (p.Ala1847=)
c.6288A>C (p.Ala2096=)
16g.3728754G>ACA394553702CREBBPc.6293C>T (p.Ala2098Val)
c.6179C>T (p.Ala2060Val)
c.6248C>T (p.Ala2083Val)
c.5876C>T (p.Ala1959Val)
c.6032C>T (p.Ala2011Val)
c.6239C>T (p.Ala2080Val)
c.5540C>T (p.Ala1847Val)
c.6287C>T (p.Ala2096Val)
ClinVar gnomAD v4
16g.3728754G>CCA394553703CREBBPc.6293C>G (p.Ala2098Gly)
c.6179C>G (p.Ala2060Gly)
c.6248C>G (p.Ala2083Gly)
c.5876C>G (p.Ala1959Gly)
c.6032C>G (p.Ala2011Gly)
c.6239C>G (p.Ala2080Gly)
c.5540C>G (p.Ala1847Gly)
c.6287C>G (p.Ala2096Gly)
16g.3728754G>TCA394553704CREBBPc.6293C>A (p.Ala2098Glu)
c.6179C>A (p.Ala2060Glu)
c.6248C>A (p.Ala2083Glu)
c.5876C>A (p.Ala1959Glu)
c.6032C>A (p.Ala2011Glu)
c.6239C>A (p.Ala2080Glu)
c.5540C>A (p.Ala1847Glu)
c.6287C>A (p.Ala2096Glu)
16g.3728755C>ACA394553706CREBBPc.6292G>T (p.Ala2098Ser)
c.6178G>T (p.Ala2060Ser)
c.6247G>T (p.Ala2083Ser)
c.5875G>T (p.Ala1959Ser)
c.6031G>T (p.Ala2011Ser)
c.6238G>T (p.Ala2080Ser)
c.5539G>T (p.Ala1847Ser)
c.6286G>T (p.Ala2096Ser)
dbSNP COSMIC
16g.3728755C>GCA394553707CREBBPc.6292G>C (p.Ala2098Pro)
c.6178G>C (p.Ala2060Pro)
c.6247G>C (p.Ala2083Pro)
c.5875G>C (p.Ala1959Pro)
c.6031G>C (p.Ala2011Pro)
c.6238G>C (p.Ala2080Pro)
c.5539G>C (p.Ala1847Pro)
c.6286G>C (p.Ala2096Pro)
dbSNP
16g.3728755C>TCA394553705CREBBPc.6292G>A (p.Ala2098Thr)
c.6178G>A (p.Ala2060Thr)
c.6247G>A (p.Ala2083Thr)
c.5875G>A (p.Ala1959Thr)
c.6031G>A (p.Ala2011Thr)
c.6238G>A (p.Ala2080Thr)
c.5539G>A (p.Ala1847Thr)
c.6286G>A (p.Ala2096Thr)
dbSNP COSMIC
16g.3728756C>ACA394553710CREBBPc.6291G>T (p.Met2097Ile)
c.6177G>T (p.Met2059Ile)
c.6246G>T (p.Met2082Ile)
c.5874G>T (p.Met1958Ile)
c.6030G>T (p.Met2010Ile)
c.6237G>T (p.Met2079Ile)
c.5538G>T (p.Met1846Ile)
c.6285G>T (p.Met2095Ile)
16g.3728756C>GCA394553708CREBBPc.6291G>C (p.Met2097Ile)
c.6177G>C (p.Met2059Ile)
c.6246G>C (p.Met2082Ile)
c.5874G>C (p.Met1958Ile)
c.6030G>C (p.Met2010Ile)
c.6237G>C (p.Met2079Ile)
c.5538G>C (p.Met1846Ile)
c.6285G>C (p.Met2095Ile)
dbSNP
16g.3728756C>TCA394553709CREBBPc.6291G>A (p.Met2097Ile)
c.6177G>A (p.Met2059Ile)
c.6246G>A (p.Met2082Ile)
c.5874G>A (p.Met1958Ile)
c.6030G>A (p.Met2010Ile)
c.6237G>A (p.Met2079Ile)
c.5538G>A (p.Met1846Ile)
c.6285G>A (p.Met2095Ile)
dbSNP
16g.3728757A>CCA394553711CREBBPc.6290T>G (p.Met2097Arg)
c.6176T>G (p.Met2059Arg)
c.6245T>G (p.Met2082Arg)
c.5873T>G (p.Met1958Arg)
c.6029T>G (p.Met2010Arg)
c.6236T>G (p.Met2079Arg)
c.5537T>G (p.Met1846Arg)
c.6284T>G (p.Met2095Arg)
16g.3728757A>GCA394553712CREBBPc.6290T>C (p.Met2097Thr)
c.6176T>C (p.Met2059Thr)
c.6245T>C (p.Met2082Thr)
c.5873T>C (p.Met1958Thr)
c.6029T>C (p.Met2010Thr)
c.6236T>C (p.Met2079Thr)
c.5537T>C (p.Met1846Thr)
c.6284T>C (p.Met2095Thr)
dbSNP
16g.3728757A>TCA394553713CREBBPc.6290T>A (p.Met2097Lys)
c.6176T>A (p.Met2059Lys)
c.6245T>A (p.Met2082Lys)
c.5873T>A (p.Met1958Lys)
c.6029T>A (p.Met2010Lys)
c.6236T>A (p.Met2079Lys)
c.5537T>A (p.Met1846Lys)
c.6284T>A (p.Met2095Lys)
16g.3728758T>ACA394553714CREBBPc.6289A>T (p.Met2097Leu)
c.6175A>T (p.Met2059Leu)
c.6244A>T (p.Met2082Leu)
c.5872A>T (p.Met1958Leu)
c.6028A>T (p.Met2010Leu)
c.6235A>T (p.Met2079Leu)
c.5536A>T (p.Met1846Leu)
c.6283A>T (p.Met2095Leu)
dbSNP
16g.3728758T>CCA394553715CREBBPc.6289A>G (p.Met2097Val)
c.6175A>G (p.Met2059Val)
c.6244A>G (p.Met2082Val)
c.5872A>G (p.Met1958Val)
c.6028A>G (p.Met2010Val)
c.6235A>G (p.Met2079Val)
c.5536A>G (p.Met1846Val)
c.6283A>G (p.Met2095Val)
16g.3728758T>GCA394553716CREBBPc.6289A>C (p.Met2097Leu)
c.6175A>C (p.Met2059Leu)
c.6244A>C (p.Met2082Leu)
c.5872A>C (p.Met1958Leu)
c.6028A>C (p.Met2010Leu)
c.6235A>C (p.Met2079Leu)
c.5536A>C (p.Met1846Leu)
c.6283A>C (p.Met2095Leu)
dbSNP
16g.3728759T>ACA493393649CREBBPc.6288A>T (p.Leu2096=)
c.6174A>T (p.Leu2058=)
c.6243A>T (p.Leu2081=)
c.5871A>T (p.Leu1957=)
c.6027A>T (p.Leu2009=)
c.6234A>T (p.Leu2078=)
c.5535A>T (p.Leu1845=)
c.6282A>T (p.Leu2094=)
16g.3728759T>CCA493393648CREBBPc.6288A>G (p.Leu2096=)
c.6174A>G (p.Leu2058=)
c.6243A>G (p.Leu2081=)
c.5871A>G (p.Leu1957=)
c.6027A>G (p.Leu2009=)
c.6234A>G (p.Leu2078=)
c.5535A>G (p.Leu1845=)
c.6282A>G (p.Leu2094=)
16g.3728759T>GCA493393647CREBBPc.6288A>C (p.Leu2096=)
c.6174A>C (p.Leu2058=)
c.6243A>C (p.Leu2081=)
c.5871A>C (p.Leu1957=)
c.6027A>C (p.Leu2009=)
c.6234A>C (p.Leu2078=)
c.5535A>C (p.Leu1845=)
c.6282A>C (p.Leu2094=)
dbSNP gnomAD v3 gnomAD v4
16g.3728759T=CA2202928843CREBBPc.6288A= (p.Leu2096=)
c.6174A= (p.Leu2058=)
c.6243A= (p.Leu2081=)
c.5871A= (p.Leu1957=)
c.6027A= (p.Leu2009=)
c.6234A= (p.Leu2078=)
c.5535A= (p.Leu1845=)
c.6282A= (p.Leu2094=)
16g.3728760A>CCA394553717CREBBPc.6287T>G (p.Leu2096Arg)
c.6173T>G (p.Leu2058Arg)
c.6242T>G (p.Leu2081Arg)
c.5870T>G (p.Leu1957Arg)
c.6026T>G (p.Leu2009Arg)
c.6233T>G (p.Leu2078Arg)
c.5534T>G (p.Leu1845Arg)
c.6281T>G (p.Leu2094Arg)
16g.3728760A>GCA394553718CREBBPc.6287T>C (p.Leu2096Pro)
c.6173T>C (p.Leu2058Pro)
c.6242T>C (p.Leu2081Pro)
c.5870T>C (p.Leu1957Pro)
c.6026T>C (p.Leu2009Pro)
c.6233T>C (p.Leu2078Pro)
c.5534T>C (p.Leu1845Pro)
c.6281T>C (p.Leu2094Pro)
dbSNP
16g.3728760A>TCA394553719CREBBPc.6287T>A (p.Leu2096Gln)
c.6173T>A (p.Leu2058Gln)
c.6242T>A (p.Leu2081Gln)
c.5870T>A (p.Leu1957Gln)
c.6026T>A (p.Leu2009Gln)
c.6233T>A (p.Leu2078Gln)
c.5534T>A (p.Leu1845Gln)
c.6281T>A (p.Leu2094Gln)
dbSNP
16g.3728761G>ACA493393650CREBBPc.6286C>T (p.Leu2096=)
c.6172C>T (p.Leu2058=)
c.6241C>T (p.Leu2081=)
c.5869C>T (p.Leu1957=)
c.6025C>T (p.Leu2009=)
c.6232C>T (p.Leu2078=)
c.5533C>T (p.Leu1845=)
c.6280C>T (p.Leu2094=)
dbSNP
16g.3728761G>CCA394553720CREBBPc.6286C>G (p.Leu2096Val)
c.6172C>G (p.Leu2058Val)
c.6241C>G (p.Leu2081Val)
c.5869C>G (p.Leu1957Val)
c.6025C>G (p.Leu2009Val)
c.6232C>G (p.Leu2078Val)
c.5533C>G (p.Leu1845Val)
c.6280C>G (p.Leu2094Val)
dbSNP
16g.3728761G=CA2202928844CREBBPc.6286C= (p.Leu2096=)
c.6172C= (p.Leu2058=)
c.6241C= (p.Leu2081=)
c.5869C= (p.Leu1957=)
c.6025C= (p.Leu2009=)
c.6232C= (p.Leu2078=)
c.5533C= (p.Leu1845=)
c.6280C= (p.Leu2094=)
16g.3728761G>TCA394553721CREBBPc.6286C>A (p.Leu2096Ile)
c.6172C>A (p.Leu2058Ile)
c.6241C>A (p.Leu2081Ile)
c.5869C>A (p.Leu1957Ile)
c.6025C>A (p.Leu2009Ile)
c.6232C>A (p.Leu2078Ile)
c.5533C>A (p.Leu1845Ile)
c.6280C>A (p.Leu2094Ile)
COSMIC
16g.3728762C>ACA394553723CREBBPc.6285G>T (p.Gln2095His)
c.6171G>T (p.Gln2057His)
c.6240G>T (p.Gln2080His)
c.5868G>T (p.Gln1956His)
c.6024G>T (p.Gln2008His)
c.6231G>T (p.Gln2077His)
c.5532G>T (p.Gln1844His)
c.6279G>T (p.Gln2093His)
dbSNP
16g.3728762C>GCA394553722CREBBPc.6285G>C (p.Gln2095His)
c.6171G>C (p.Gln2057His)
c.6240G>C (p.Gln2080His)
c.5868G>C (p.Gln1956His)
c.6024G>C (p.Gln2008His)
c.6231G>C (p.Gln2077His)
c.5532G>C (p.Gln1844His)
c.6279G>C (p.Gln2093His)
dbSNP
16g.3728762C>TCA493393651CREBBPc.6285G>A (p.Gln2095=)
c.6171G>A (p.Gln2057=)
c.6240G>A (p.Gln2080=)
c.5868G>A (p.Gln1956=)
c.6024G>A (p.Gln2008=)
c.6231G>A (p.Gln2077=)
c.5532G>A (p.Gln1844=)
c.6279G>A (p.Gln2093=)
16g.3728763T>ACA394553724CREBBPc.6284A>T (p.Gln2095Leu)
c.6170A>T (p.Gln2057Leu)
c.6239A>T (p.Gln2080Leu)
c.5867A>T (p.Gln1956Leu)
c.6023A>T (p.Gln2008Leu)
c.6230A>T (p.Gln2077Leu)
c.5531A>T (p.Gln1844Leu)
c.6278A>T (p.Gln2093Leu)
16g.3728763T>CCA394553725CREBBPc.6284A>G (p.Gln2095Arg)
c.6170A>G (p.Gln2057Arg)
c.6239A>G (p.Gln2080Arg)
c.5867A>G (p.Gln1956Arg)
c.6023A>G (p.Gln2008Arg)
c.6230A>G (p.Gln2077Arg)
c.5531A>G (p.Gln1844Arg)
c.6278A>G (p.Gln2093Arg)
16g.3728763T>GCA394553726CREBBPc.6284A>C (p.Gln2095Pro)
c.6170A>C (p.Gln2057Pro)
c.6239A>C (p.Gln2080Pro)
c.5867A>C (p.Gln1956Pro)
c.6023A>C (p.Gln2008Pro)
c.6230A>C (p.Gln2077Pro)
c.5531A>C (p.Gln1844Pro)
c.6278A>C (p.Gln2093Pro)
16g.3728764G>ACA394553727CREBBPc.6283C>T (p.Gln2095Ter)
c.6169C>T (p.Gln2057Ter)
c.6238C>T (p.Gln2080Ter)
c.5866C>T (p.Gln1956Ter)
c.6022C>T (p.Gln2008Ter)
c.6229C>T (p.Gln2077Ter)
c.5530C>T (p.Gln1844Ter)
c.6277C>T (p.Gln2093Ter)
dbSNP
16g.3728764G>CCA394553728CREBBPc.6283C>G (p.Gln2095Glu)
c.6169C>G (p.Gln2057Glu)
c.6238C>G (p.Gln2080Glu)
c.5866C>G (p.Gln1956Glu)
c.6022C>G (p.Gln2008Glu)
c.6229C>G (p.Gln2077Glu)
c.5530C>G (p.Gln1844Glu)
c.6277C>G (p.Gln2093Glu)
dbSNP
16g.3728764G>TCA394553729CREBBPc.6283C>A (p.Gln2095Lys)
c.6169C>A (p.Gln2057Lys)
c.6238C>A (p.Gln2080Lys)
c.5866C>A (p.Gln1956Lys)
c.6022C>A (p.Gln2008Lys)
c.6229C>A (p.Gln2077Lys)
c.5530C>A (p.Gln1844Lys)
c.6277C>A (p.Gln2093Lys)
16g.3728765C>ACA493393653CREBBPc.6282G>T (p.Pro2094=)
c.6168G>T (p.Pro2056=)
c.6237G>T (p.Pro2079=)
c.5865G>T (p.Pro1955=)
c.6021G>T (p.Pro2007=)
c.6228G>T (p.Pro2076=)
c.5529G>T (p.Pro1843=)
c.6276G>T (p.Pro2092=)
dbSNP
16g.3728765C=CA2202928845CREBBPc.6282G= (p.Pro2094=)
c.6168G= (p.Pro2056=)
c.6237G= (p.Pro2079=)
c.5865G= (p.Pro1955=)
c.6021G= (p.Pro2007=)
c.6228G= (p.Pro2076=)
c.5529G= (p.Pro1843=)
c.6276G= (p.Pro2092=)
16g.3728765C>GCA493393652CREBBPc.6282G>C (p.Pro2094=)
c.6168G>C (p.Pro2056=)
c.6237G>C (p.Pro2079=)
c.5865G>C (p.Pro1955=)
c.6021G>C (p.Pro2007=)
c.6228G>C (p.Pro2076=)
c.5529G>C (p.Pro1843=)
c.6276G>C (p.Pro2092=)
dbSNP
16g.3728765C>TCA7869150CREBBPc.6282G>A (p.Pro2094=)
c.6168G>A (p.Pro2056=)
c.6237G>A (p.Pro2079=)
c.5865G>A (p.Pro1955=)
c.6021G>A (p.Pro2007=)
c.6228G>A (p.Pro2076=)
c.5529G>A (p.Pro1843=)
c.6276G>A (p.Pro2092=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728766G>ACA394553730CREBBPc.6281C>T (p.Pro2094Leu)
c.6167C>T (p.Pro2056Leu)
c.6236C>T (p.Pro2079Leu)
c.5864C>T (p.Pro1955Leu)
c.6020C>T (p.Pro2007Leu)
c.6227C>T (p.Pro2076Leu)
c.5528C>T (p.Pro1843Leu)
c.6275C>T (p.Pro2092Leu)
COSMIC
16g.3728766G>CCA394553731CREBBPc.6281C>G (p.Pro2094Arg)
c.6167C>G (p.Pro2056Arg)
c.6236C>G (p.Pro2079Arg)
c.5864C>G (p.Pro1955Arg)
c.6020C>G (p.Pro2007Arg)
c.6227C>G (p.Pro2076Arg)
c.5528C>G (p.Pro1843Arg)
c.6275C>G (p.Pro2092Arg)
16g.3728766G>TCA394553732CREBBPc.6281C>A (p.Pro2094Gln)
c.6167C>A (p.Pro2056Gln)
c.6236C>A (p.Pro2079Gln)
c.5864C>A (p.Pro1955Gln)
c.6020C>A (p.Pro2007Gln)
c.6227C>A (p.Pro2076Gln)
c.5528C>A (p.Pro1843Gln)
c.6275C>A (p.Pro2092Gln)
16g.3728767G>ACA394553733CREBBPc.6280C>T (p.Pro2094Ser)
c.6166C>T (p.Pro2056Ser)
c.6235C>T (p.Pro2079Ser)
c.5863C>T (p.Pro1955Ser)
c.6019C>T (p.Pro2007Ser)
c.6226C>T (p.Pro2076Ser)
c.5527C>T (p.Pro1843Ser)
c.6274C>T (p.Pro2092Ser)
dbSNP
16g.3728767G>CCA394553734CREBBPc.6280C>G (p.Pro2094Ala)
c.6166C>G (p.Pro2056Ala)
c.6235C>G (p.Pro2079Ala)
c.5863C>G (p.Pro1955Ala)
c.6019C>G (p.Pro2007Ala)
c.6226C>G (p.Pro2076Ala)
c.5527C>G (p.Pro1843Ala)
c.6274C>G (p.Pro2092Ala)
dbSNP
16g.3728767G>TCA394553735CREBBPc.6280C>A (p.Pro2094Thr)
c.6166C>A (p.Pro2056Thr)
c.6235C>A (p.Pro2079Thr)
c.5863C>A (p.Pro1955Thr)
c.6019C>A (p.Pro2007Thr)
c.6226C>A (p.Pro2076Thr)
c.5527C>A (p.Pro1843Thr)
c.6274C>A (p.Pro2092Thr)
dbSNP
16g.3728768G>ACA7869151CREBBPc.6279C>T (p.Asn2093=)
c.6165C>T (p.Asn2055=)
c.6234C>T (p.Asn2078=)
c.5862C>T (p.Asn1954=)
c.6018C>T (p.Asn2006=)
c.6225C>T (p.Asn2075=)
c.5526C>T (p.Asn1842=)
c.6273C>T (p.Asn2091=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728768G>CCA394553737CREBBPc.6279C>G (p.Asn2093Lys)
c.6165C>G (p.Asn2055Lys)
c.6234C>G (p.Asn2078Lys)
c.5862C>G (p.Asn1954Lys)
c.6018C>G (p.Asn2006Lys)
c.6225C>G (p.Asn2075Lys)
c.5526C>G (p.Asn1842Lys)
c.6273C>G (p.Asn2091Lys)
dbSNP
16g.3728768G=CA2202928846CREBBPc.6279C= (p.Asn2093=)
c.6165C= (p.Asn2055=)
c.6234C= (p.Asn2078=)
c.5862C= (p.Asn1954=)
c.6018C= (p.Asn2006=)
c.6225C= (p.Asn2075=)
c.5526C= (p.Asn1842=)
c.6273C= (p.Asn2091=)
16g.3728768G>TCA394553736CREBBPc.6279C>A (p.Asn2093Lys)
c.6165C>A (p.Asn2055Lys)
c.6234C>A (p.Asn2078Lys)
c.5862C>A (p.Asn1954Lys)
c.6018C>A (p.Asn2006Lys)
c.6225C>A (p.Asn2075Lys)
c.5526C>A (p.Asn1842Lys)
c.6273C>A (p.Asn2091Lys)
dbSNP
16g.3728769T>ACA394553739CREBBPc.6278A>T (p.Asn2093Ile)
c.6164A>T (p.Asn2055Ile)
c.6233A>T (p.Asn2078Ile)
c.5861A>T (p.Asn1954Ile)
c.6017A>T (p.Asn2006Ile)
c.6224A>T (p.Asn2075Ile)
c.5525A>T (p.Asn1842Ile)
c.6272A>T (p.Asn2091Ile)
dbSNP
16g.3728769T>CCA394553738CREBBPc.6278A>G (p.Asn2093Ser)
c.6164A>G (p.Asn2055Ser)
c.6233A>G (p.Asn2078Ser)
c.5861A>G (p.Asn1954Ser)
c.6017A>G (p.Asn2006Ser)
c.6224A>G (p.Asn2075Ser)
c.5525A>G (p.Asn1842Ser)
c.6272A>G (p.Asn2091Ser)
dbSNP
16g.3728769T>GCA276971710CREBBPc.6278A>C (p.Asn2093Thr)
c.6164A>C (p.Asn2055Thr)
c.6233A>C (p.Asn2078Thr)
c.5861A>C (p.Asn1954Thr)
c.6017A>C (p.Asn2006Thr)
c.6224A>C (p.Asn2075Thr)
c.5525A>C (p.Asn1842Thr)
c.6272A>C (p.Asn2091Thr)
dbSNP gnomAD v2
16g.3728769T=CA2202928847CREBBPc.6278A= (p.Asn2093=)
c.6164A= (p.Asn2055=)
c.6233A= (p.Asn2078=)
c.5861A= (p.Asn1954=)
c.6017A= (p.Asn2006=)
c.6224A= (p.Asn2075=)
c.5525A= (p.Asn1842=)
c.6272A= (p.Asn2091=)
16g.3728770T>ACA394553740CREBBPc.6277A>T (p.Asn2093Tyr)
c.6163A>T (p.Asn2055Tyr)
c.6232A>T (p.Asn2078Tyr)
c.5860A>T (p.Asn1954Tyr)
c.6016A>T (p.Asn2006Tyr)
c.6223A>T (p.Asn2075Tyr)
c.5524A>T (p.Asn1842Tyr)
c.6271A>T (p.Asn2091Tyr)
dbSNP
16g.3728770T>CCA394553741CREBBPc.6277A>G (p.Asn2093Asp)
c.6163A>G (p.Asn2055Asp)
c.6232A>G (p.Asn2078Asp)
c.5860A>G (p.Asn1954Asp)
c.6016A>G (p.Asn2006Asp)
c.6223A>G (p.Asn2075Asp)
c.5524A>G (p.Asn1842Asp)
c.6271A>G (p.Asn2091Asp)
dbSNP
16g.3728770T>GCA394553742CREBBPc.6277A>C (p.Asn2093His)
c.6163A>C (p.Asn2055His)
c.6232A>C (p.Asn2078His)
c.5860A>C (p.Asn1954His)
c.6016A>C (p.Asn2006His)
c.6223A>C (p.Asn2075His)
c.5524A>C (p.Asn1842His)
c.6271A>C (p.Asn2091His)
dbSNP
16g.3728771T>ACA493393656CREBBPc.6276A>T (p.Ser2092=)
c.6162A>T (p.Ser2054=)
c.6231A>T (p.Ser2077=)
c.5859A>T (p.Ser1953=)
c.6015A>T (p.Ser2005=)
c.6222A>T (p.Ser2074=)
c.5523A>T (p.Ser1841=)
c.6270A>T (p.Ser2090=)
dbSNP
16g.3728771T>CCA493393654CREBBPc.6276A>G (p.Ser2092=)
c.6162A>G (p.Ser2054=)
c.6231A>G (p.Ser2077=)
c.5859A>G (p.Ser1953=)
c.6015A>G (p.Ser2005=)
c.6222A>G (p.Ser2074=)
c.5523A>G (p.Ser1841=)
c.6270A>G (p.Ser2090=)
dbSNP
16g.3728771T>GCA493393655CREBBPc.6276A>C (p.Ser2092=)
c.6162A>C (p.Ser2054=)
c.6231A>C (p.Ser2077=)
c.5859A>C (p.Ser1953=)
c.6015A>C (p.Ser2005=)
c.6222A>C (p.Ser2074=)
c.5523A>C (p.Ser1841=)
c.6270A>C (p.Ser2090=)
16g.3728772G>ACA394553743CREBBPc.6275C>T (p.Ser2092Leu)
c.6161C>T (p.Ser2054Leu)
c.6230C>T (p.Ser2077Leu)
c.5858C>T (p.Ser1953Leu)
c.6014C>T (p.Ser2005Leu)
c.6221C>T (p.Ser2074Leu)
c.5522C>T (p.Ser1841Leu)
c.6269C>T (p.Ser2090Leu)
dbSNP
16g.3728772G>CCA394553744CREBBPc.6275C>G (p.Ser2092Ter)
c.6161C>G (p.Ser2054Ter)
c.6230C>G (p.Ser2077Ter)
c.5858C>G (p.Ser1953Ter)
c.6014C>G (p.Ser2005Ter)
c.6221C>G (p.Ser2074Ter)
c.5522C>G (p.Ser1841Ter)
c.6269C>G (p.Ser2090Ter)
ClinVar dbSNP
16g.3728772G=CA2202928848CREBBPc.6275C= (p.Ser2092=)
c.6161C= (p.Ser2054=)
c.6230C= (p.Ser2077=)
c.5858C= (p.Ser1953=)
c.6014C= (p.Ser2005=)
c.6221C= (p.Ser2074=)
c.5522C= (p.Ser1841=)
c.6269C= (p.Ser2090=)
16g.3728772G>TCA394553745CREBBPc.6275C>A (p.Ser2092Ter)
c.6161C>A (p.Ser2054Ter)
c.6230C>A (p.Ser2077Ter)
c.5858C>A (p.Ser1953Ter)
c.6014C>A (p.Ser2005Ter)
c.6221C>A (p.Ser2074Ter)
c.5522C>A (p.Ser1841Ter)
c.6269C>A (p.Ser2090Ter)
16g.3728773A>CCA394553746CREBBPc.6274T>G (p.Ser2092Ala)
c.6160T>G (p.Ser2054Ala)
c.6229T>G (p.Ser2077Ala)
c.5857T>G (p.Ser1953Ala)
c.6013T>G (p.Ser2005Ala)
c.6220T>G (p.Ser2074Ala)
c.5521T>G (p.Ser1841Ala)
c.6268T>G (p.Ser2090Ala)
16g.3728773A>GCA394553747CREBBPc.6274T>C (p.Ser2092Pro)
c.6160T>C (p.Ser2054Pro)
c.6229T>C (p.Ser2077Pro)
c.5857T>C (p.Ser1953Pro)
c.6013T>C (p.Ser2005Pro)
c.6220T>C (p.Ser2074Pro)
c.5521T>C (p.Ser1841Pro)
c.6268T>C (p.Ser2090Pro)
16g.3728773A>TCA394553748CREBBPc.6274T>A (p.Ser2092Thr)
c.6160T>A (p.Ser2054Thr)
c.6229T>A (p.Ser2077Thr)
c.5857T>A (p.Ser1953Thr)
c.6013T>A (p.Ser2005Thr)
c.6220T>A (p.Ser2074Thr)
c.5521T>A (p.Ser1841Thr)
c.6268T>A (p.Ser2090Thr)
16g.3728774T>ACA394553749CREBBPc.6273A>T (p.Lys2091Asn)
c.6159A>T (p.Lys2053Asn)
c.6228A>T (p.Lys2076Asn)
c.5856A>T (p.Lys1952Asn)
c.6012A>T (p.Lys2004Asn)
c.6219A>T (p.Lys2073Asn)
c.5520A>T (p.Lys1840Asn)
c.6267A>T (p.Lys2089Asn)
ClinVar dbSNP
16g.3728774T>CCA493393657CREBBPc.6273A>G (p.Lys2091=)
c.6159A>G (p.Lys2053=)
c.6228A>G (p.Lys2076=)
c.5856A>G (p.Lys1952=)
c.6012A>G (p.Lys2004=)
c.6219A>G (p.Lys2073=)
c.5520A>G (p.Lys1840=)
c.6267A>G (p.Lys2089=)
ClinVar
16g.3728774T>GCA394553750CREBBPc.6273A>C (p.Lys2091Asn)
c.6159A>C (p.Lys2053Asn)
c.6228A>C (p.Lys2076Asn)
c.5856A>C (p.Lys1952Asn)
c.6012A>C (p.Lys2004Asn)
c.6219A>C (p.Lys2073Asn)
c.5520A>C (p.Lys1840Asn)
c.6267A>C (p.Lys2089Asn)
dbSNP
16g.3728775T>ACA394553753CREBBPc.6272A>T (p.Lys2091Ile)
c.6158A>T (p.Lys2053Ile)
c.6227A>T (p.Lys2076Ile)
c.5855A>T (p.Lys1952Ile)
c.6011A>T (p.Lys2004Ile)
c.6218A>T (p.Lys2073Ile)
c.5519A>T (p.Lys1840Ile)
c.6266A>T (p.Lys2089Ile)
dbSNP
16g.3728775T>CCA394553751CREBBPc.6272A>G (p.Lys2091Arg)
c.6158A>G (p.Lys2053Arg)
c.6227A>G (p.Lys2076Arg)
c.5855A>G (p.Lys1952Arg)
c.6011A>G (p.Lys2004Arg)
c.6218A>G (p.Lys2073Arg)
c.5519A>G (p.Lys1840Arg)
c.6266A>G (p.Lys2089Arg)
gnomAD v4
16g.3728775T>GCA394553752CREBBPc.6272A>C (p.Lys2091Thr)
c.6158A>C (p.Lys2053Thr)
c.6227A>C (p.Lys2076Thr)
c.5855A>C (p.Lys1952Thr)
c.6011A>C (p.Lys2004Thr)
c.6218A>C (p.Lys2073Thr)
c.5519A>C (p.Lys1840Thr)
c.6266A>C (p.Lys2089Thr)
16g.3728776T>ACA394553754CREBBPc.6271A>T (p.Lys2091Ter)
c.6157A>T (p.Lys2053Ter)
c.6226A>T (p.Lys2076Ter)
c.5854A>T (p.Lys1952Ter)
c.6010A>T (p.Lys2004Ter)
c.6217A>T (p.Lys2073Ter)
c.5518A>T (p.Lys1840Ter)
c.6265A>T (p.Lys2089Ter)
ClinVar
16g.3728776T>CCA394553755CREBBPc.6271A>G (p.Lys2091Glu)
c.6157A>G (p.Lys2053Glu)
c.6226A>G (p.Lys2076Glu)
c.5854A>G (p.Lys1952Glu)
c.6010A>G (p.Lys2004Glu)
c.6217A>G (p.Lys2073Glu)
c.5518A>G (p.Lys1840Glu)
c.6265A>G (p.Lys2089Glu)
16g.3728776T>GCA394553756CREBBPc.6271A>C (p.Lys2091Gln)
c.6157A>C (p.Lys2053Gln)
c.6226A>C (p.Lys2076Gln)
c.5854A>C (p.Lys1952Gln)
c.6010A>C (p.Lys2004Gln)
c.6217A>C (p.Lys2073Gln)
c.5518A>C (p.Lys1840Gln)
c.6265A>C (p.Lys2089Gln)
16g.3728777G>ACA493393658CREBBPc.6270C>T (p.Leu2090=)
c.6156C>T (p.Leu2052=)
c.6225C>T (p.Leu2075=)
c.5853C>T (p.Leu1951=)
c.6009C>T (p.Leu2003=)
c.6216C>T (p.Leu2072=)
c.5517C>T (p.Leu1839=)
c.6264C>T (p.Leu2088=)
dbSNP
16g.3728777G>CCA493393659CREBBPc.6270C>G (p.Leu2090=)
c.6156C>G (p.Leu2052=)
c.6225C>G (p.Leu2075=)
c.5853C>G (p.Leu1951=)
c.6009C>G (p.Leu2003=)
c.6216C>G (p.Leu2072=)
c.5517C>G (p.Leu1839=)
c.6264C>G (p.Leu2088=)
dbSNP
16g.3728777G>TCA493393660CREBBPc.6270C>A (p.Leu2090=)
c.6156C>A (p.Leu2052=)
c.6225C>A (p.Leu2075=)
c.5853C>A (p.Leu1951=)
c.6009C>A (p.Leu2003=)
c.6216C>A (p.Leu2072=)
c.5517C>A (p.Leu1839=)
c.6264C>A (p.Leu2088=)
16g.3728778A>CCA394553757CREBBPc.6269T>G (p.Leu2090Arg)
c.6155T>G (p.Leu2052Arg)
c.6224T>G (p.Leu2075Arg)
c.5852T>G (p.Leu1951Arg)
c.6008T>G (p.Leu2003Arg)
c.6215T>G (p.Leu2072Arg)
c.5516T>G (p.Leu1839Arg)
c.6263T>G (p.Leu2088Arg)
16g.3728778A>GCA394553758CREBBPc.6269T>C (p.Leu2090Pro)
c.6155T>C (p.Leu2052Pro)
c.6224T>C (p.Leu2075Pro)
c.5852T>C (p.Leu1951Pro)
c.6008T>C (p.Leu2003Pro)
c.6215T>C (p.Leu2072Pro)
c.5516T>C (p.Leu1839Pro)
c.6263T>C (p.Leu2088Pro)
dbSNP
16g.3728778A>TCA394553759CREBBPc.6269T>A (p.Leu2090His)
c.6155T>A (p.Leu2052His)
c.6224T>A (p.Leu2075His)
c.5852T>A (p.Leu1951His)
c.6008T>A (p.Leu2003His)
c.6215T>A (p.Leu2072His)
c.5516T>A (p.Leu1839His)
c.6263T>A (p.Leu2088His)
dbSNP
16g.3728779G>ACA394553760CREBBPc.6268C>T (p.Leu2090Phe)
c.6154C>T (p.Leu2052Phe)
c.6223C>T (p.Leu2075Phe)
c.5851C>T (p.Leu1951Phe)
c.6007C>T (p.Leu2003Phe)
c.6214C>T (p.Leu2072Phe)
c.5515C>T (p.Leu1839Phe)
c.6262C>T (p.Leu2088Phe)
dbSNP
16g.3728779G>CCA394553761CREBBPc.6268C>G (p.Leu2090Val)
c.6154C>G (p.Leu2052Val)
c.6223C>G (p.Leu2075Val)
c.5851C>G (p.Leu1951Val)
c.6007C>G (p.Leu2003Val)
c.6214C>G (p.Leu2072Val)
c.5515C>G (p.Leu1839Val)
c.6262C>G (p.Leu2088Val)
dbSNP
16g.3728779G>TCA394553762CREBBPc.6268C>A (p.Leu2090Ile)
c.6154C>A (p.Leu2052Ile)
c.6223C>A (p.Leu2075Ile)
c.5851C>A (p.Leu1951Ile)
c.6007C>A (p.Leu2003Ile)
c.6214C>A (p.Leu2072Ile)
c.5515C>A (p.Leu1839Ile)
c.6262C>A (p.Leu2088Ile)
16g.3728780A>CCA394553763CREBBPc.6267T>G (p.Ile2089Met)
c.6153T>G (p.Ile2051Met)
c.6222T>G (p.Ile2074Met)
c.5850T>G (p.Ile1950Met)
c.6006T>G (p.Ile2002Met)
c.6213T>G (p.Ile2071Met)
c.5514T>G (p.Ile1838Met)
c.6261T>G (p.Ile2087Met)
16g.3728780A>GCA493393661CREBBPc.6267T>C (p.Ile2089=)
c.6153T>C (p.Ile2051=)
c.6222T>C (p.Ile2074=)
c.5850T>C (p.Ile1950=)
c.6006T>C (p.Ile2002=)
c.6213T>C (p.Ile2071=)
c.5514T>C (p.Ile1838=)
c.6261T>C (p.Ile2087=)
dbSNP
16g.3728780A>TCA493393662CREBBPc.6267T>A (p.Ile2089=)
c.6153T>A (p.Ile2051=)
c.6222T>A (p.Ile2074=)
c.5850T>A (p.Ile1950=)
c.6006T>A (p.Ile2002=)
c.6213T>A (p.Ile2071=)
c.5514T>A (p.Ile1838=)
c.6261T>A (p.Ile2087=)
dbSNP
16g.3728781A=CA2202928849CREBBPc.6266T= (p.Ile2089=)
c.6152T= (p.Ile2051=)
c.6221T= (p.Ile2074=)
c.5849T= (p.Ile1950=)
c.6005T= (p.Ile2002=)
c.6212T= (p.Ile2071=)
c.5513T= (p.Ile1838=)
c.6260T= (p.Ile2087=)
16g.3728781A>CCA394553764CREBBPc.6266T>G (p.Ile2089Ser)
c.6152T>G (p.Ile2051Ser)
c.6221T>G (p.Ile2074Ser)
c.5849T>G (p.Ile1950Ser)
c.6005T>G (p.Ile2002Ser)
c.6212T>G (p.Ile2071Ser)
c.5513T>G (p.Ile1838Ser)
c.6260T>G (p.Ile2087Ser)
dbSNP
16g.3728781A>GCA394553765CREBBPc.6266T>C (p.Ile2089Thr)
c.6152T>C (p.Ile2051Thr)
c.6221T>C (p.Ile2074Thr)
c.5849T>C (p.Ile1950Thr)
c.6005T>C (p.Ile2002Thr)
c.6212T>C (p.Ile2071Thr)
c.5513T>C (p.Ile1838Thr)
c.6260T>C (p.Ile2087Thr)
dbSNP
16g.3728781A>TCA394553766CREBBPc.6266T>A (p.Ile2089Asn)
c.6152T>A (p.Ile2051Asn)
c.6221T>A (p.Ile2074Asn)
c.5849T>A (p.Ile1950Asn)
c.6005T>A (p.Ile2002Asn)
c.6212T>A (p.Ile2071Asn)
c.5513T>A (p.Ile1838Asn)
c.6260T>A (p.Ile2087Asn)
dbSNP
16g.3728782T>ACA394553768CREBBPc.6265A>T (p.Ile2089Phe)
c.6151A>T (p.Ile2051Phe)
c.6220A>T (p.Ile2074Phe)
c.5848A>T (p.Ile1950Phe)
c.6004A>T (p.Ile2002Phe)
c.6211A>T (p.Ile2071Phe)
c.5512A>T (p.Ile1838Phe)
c.6259A>T (p.Ile2087Phe)
ClinVar dbSNP
16g.3728782T>CCA394553769CREBBPc.6265A>G (p.Ile2089Val)
c.6151A>G (p.Ile2051Val)
c.6220A>G (p.Ile2074Val)
c.5848A>G (p.Ile1950Val)
c.6004A>G (p.Ile2002Val)
c.6211A>G (p.Ile2071Val)
c.5512A>G (p.Ile1838Val)
c.6259A>G (p.Ile2087Val)
dbSNP
16g.3728782T>GCA394553767CREBBPc.6265A>C (p.Ile2089Leu)
c.6151A>C (p.Ile2051Leu)
c.6220A>C (p.Ile2074Leu)
c.5848A>C (p.Ile1950Leu)
c.6004A>C (p.Ile2002Leu)
c.6211A>C (p.Ile2071Leu)
c.5512A>C (p.Ile1838Leu)
c.6259A>C (p.Ile2087Leu)
dbSNP
16g.3728782T=CA2202928850CREBBPc.6265A= (p.Ile2089=)
c.6151A= (p.Ile2051=)
c.6220A= (p.Ile2074=)
c.5848A= (p.Ile1950=)
c.6004A= (p.Ile2002=)
c.6211A= (p.Ile2071=)
c.5512A= (p.Ile1838=)
c.6259A= (p.Ile2087=)
16g.3728783G>ACA493393663CREBBPc.6264C>T (p.Asn2088=)
c.6150C>T (p.Asn2050=)
c.6219C>T (p.Asn2073=)
c.5847C>T (p.Asn1949=)
c.6003C>T (p.Asn2001=)
c.6210C>T (p.Asn2070=)
c.5511C>T (p.Asn1837=)
c.6258C>T (p.Asn2086=)
dbSNP
16g.3728783G>CCA394553770CREBBPc.6264C>G (p.Asn2088Lys)
c.6150C>G (p.Asn2050Lys)
c.6219C>G (p.Asn2073Lys)
c.5847C>G (p.Asn1949Lys)
c.6003C>G (p.Asn2001Lys)
c.6210C>G (p.Asn2070Lys)
c.5511C>G (p.Asn1837Lys)
c.6258C>G (p.Asn2086Lys)
dbSNP
16g.3728783G>TCA394553771CREBBPc.6264C>A (p.Asn2088Lys)
c.6150C>A (p.Asn2050Lys)
c.6219C>A (p.Asn2073Lys)
c.5847C>A (p.Asn1949Lys)
c.6003C>A (p.Asn2001Lys)
c.6210C>A (p.Asn2070Lys)
c.5511C>A (p.Asn1837Lys)
c.6258C>A (p.Asn2086Lys)
16g.3728784T>ACA394553772CREBBPc.6263A>T (p.Asn2088Ile)
c.6149A>T (p.Asn2050Ile)
c.6218A>T (p.Asn2073Ile)
c.5846A>T (p.Asn1949Ile)
c.6002A>T (p.Asn2001Ile)
c.6209A>T (p.Asn2070Ile)
c.5510A>T (p.Asn1837Ile)
c.6257A>T (p.Asn2086Ile)
dbSNP
16g.3728784T>CCA394553773CREBBPc.6263A>G (p.Asn2088Ser)
c.6149A>G (p.Asn2050Ser)
c.6218A>G (p.Asn2073Ser)
c.5846A>G (p.Asn1949Ser)
c.6002A>G (p.Asn2001Ser)
c.6209A>G (p.Asn2070Ser)
c.5510A>G (p.Asn1837Ser)
c.6257A>G (p.Asn2086Ser)
dbSNP
16g.3728784T>GCA394553774CREBBPc.6263A>C (p.Asn2088Thr)
c.6149A>C (p.Asn2050Thr)
c.6218A>C (p.Asn2073Thr)
c.5846A>C (p.Asn1949Thr)
c.6002A>C (p.Asn2001Thr)
c.6209A>C (p.Asn2070Thr)
c.5510A>C (p.Asn1837Thr)
c.6257A>C (p.Asn2086Thr)
dbSNP
16g.3728785T>ACA394553775CREBBPc.6262A>T (p.Asn2088Tyr)
c.6148A>T (p.Asn2050Tyr)
c.6217A>T (p.Asn2073Tyr)
c.5845A>T (p.Asn1949Tyr)
c.6001A>T (p.Asn2001Tyr)
c.6208A>T (p.Asn2070Tyr)
c.5509A>T (p.Asn1837Tyr)
c.6256A>T (p.Asn2086Tyr)
dbSNP
16g.3728785T>CCA394553776CREBBPc.6262A>G (p.Asn2088Asp)
c.6148A>G (p.Asn2050Asp)
c.6217A>G (p.Asn2073Asp)
c.5845A>G (p.Asn1949Asp)
c.6001A>G (p.Asn2001Asp)
c.6208A>G (p.Asn2070Asp)
c.5509A>G (p.Asn1837Asp)
c.6256A>G (p.Asn2086Asp)
dbSNP
16g.3728785T>GCA394553777CREBBPc.6262A>C (p.Asn2088His)
c.6148A>C (p.Asn2050His)
c.6217A>C (p.Asn2073His)
c.5845A>C (p.Asn1949His)
c.6001A>C (p.Asn2001His)
c.6208A>C (p.Asn2070His)
c.5509A>C (p.Asn1837His)
c.6256A>C (p.Asn2086His)
16g.3728786C>ACA493393664CREBBPc.6261G>T (p.Leu2087=)
c.6147G>T (p.Leu2049=)
c.6216G>T (p.Leu2072=)
c.5844G>T (p.Leu1948=)
c.6000G>T (p.Leu2000=)
c.6207G>T (p.Leu2069=)
c.5508G>T (p.Leu1836=)
c.6255G>T (p.Leu2085=)
dbSNP
16g.3728786C=CA2202928851CREBBPc.6261G= (p.Leu2087=)
c.6147G= (p.Leu2049=)
c.6216G= (p.Leu2072=)
c.5844G= (p.Leu1948=)
c.6000G= (p.Leu2000=)
c.6207G= (p.Leu2069=)
c.5508G= (p.Leu1836=)
c.6255G= (p.Leu2085=)
16g.3728786C>GCA493393665CREBBPc.6261G>C (p.Leu2087=)
c.6147G>C (p.Leu2049=)
c.6216G>C (p.Leu2072=)
c.5844G>C (p.Leu1948=)
c.6000G>C (p.Leu2000=)
c.6207G>C (p.Leu2069=)
c.5508G>C (p.Leu1836=)
c.6255G>C (p.Leu2085=)
dbSNP
16g.3728786C>TCA493393666CREBBPc.6261G>A (p.Leu2087=)
c.6147G>A (p.Leu2049=)
c.6216G>A (p.Leu2072=)
c.5844G>A (p.Leu1948=)
c.6000G>A (p.Leu2000=)
c.6207G>A (p.Leu2069=)
c.5508G>A (p.Leu1836=)
c.6255G>A (p.Leu2085=)
dbSNP gnomAD v2 gnomAD v4
16g.3728787A>CCA394553778CREBBPc.6260T>G (p.Leu2087Arg)
c.6146T>G (p.Leu2049Arg)
c.6215T>G (p.Leu2072Arg)
c.5843T>G (p.Leu1948Arg)
c.5999T>G (p.Leu2000Arg)
c.6206T>G (p.Leu2069Arg)
c.5507T>G (p.Leu1836Arg)
c.6254T>G (p.Leu2085Arg)
16g.3728787A>GCA394553779CREBBPc.6260T>C (p.Leu2087Pro)
c.6146T>C (p.Leu2049Pro)
c.6215T>C (p.Leu2072Pro)
c.5843T>C (p.Leu1948Pro)
c.5999T>C (p.Leu2000Pro)
c.6206T>C (p.Leu2069Pro)
c.5507T>C (p.Leu1836Pro)
c.6254T>C (p.Leu2085Pro)
dbSNP
16g.3728787A>TCA394553780CREBBPc.6260T>A (p.Leu2087Gln)
c.6146T>A (p.Leu2049Gln)
c.6215T>A (p.Leu2072Gln)
c.5843T>A (p.Leu1948Gln)
c.5999T>A (p.Leu2000Gln)
c.6206T>A (p.Leu2069Gln)
c.5507T>A (p.Leu1836Gln)
c.6254T>A (p.Leu2085Gln)
dbSNP

Number of alleles fetched