Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.3728788G>ACA493393667CREBBPc.6259C>T (p.Leu2087=)
c.6145C>T (p.Leu2049=)
c.6214C>T (p.Leu2072=)
c.5842C>T (p.Leu1948=)
c.5998C>T (p.Leu2000=)
c.6205C>T (p.Leu2069=)
c.5506C>T (p.Leu1836=)
c.6253C>T (p.Leu2085=)
16g.3728788G>CCA394553781CREBBPc.6259C>G (p.Leu2087Val)
c.6145C>G (p.Leu2049Val)
c.6214C>G (p.Leu2072Val)
c.5842C>G (p.Leu1948Val)
c.5998C>G (p.Leu2000Val)
c.6205C>G (p.Leu2069Val)
c.5506C>G (p.Leu1836Val)
c.6253C>G (p.Leu2085Val)
 dbSNP
16g.3728788G>TCA394553782CREBBPc.6259C>A (p.Leu2087Met)
c.6145C>A (p.Leu2049Met)
c.6214C>A (p.Leu2072Met)
c.5842C>A (p.Leu1948Met)
c.5998C>A (p.Leu2000Met)
c.6205C>A (p.Leu2069Met)
c.5506C>A (p.Leu1836Met)
c.6253C>A (p.Leu2085Met)
16g.3728789C>ACA493393668CREBBPc.6258G>T (p.Val2086=)
c.6144G>T (p.Val2048=)
c.6213G>T (p.Val2071=)
c.5841G>T (p.Val1947=)
c.5997G>T (p.Val1999=)
c.6204G>T (p.Val2068=)
c.5505G>T (p.Val1835=)
c.6252G>T (p.Val2084=)
 dbSNP
16g.3728789C>GCA493393669CREBBPc.6258G>C (p.Val2086=)
c.6144G>C (p.Val2048=)
c.6213G>C (p.Val2071=)
c.5841G>C (p.Val1947=)
c.5997G>C (p.Val1999=)
c.6204G>C (p.Val2068=)
c.5505G>C (p.Val1835=)
c.6252G>C (p.Val2084=)
 dbSNP
16g.3728789C>TCA493393670CREBBPc.6258G>A (p.Val2086=)
c.6144G>A (p.Val2048=)
c.6213G>A (p.Val2071=)
c.5841G>A (p.Val1947=)
c.5997G>A (p.Val1999=)
c.6204G>A (p.Val2068=)
c.5505G>A (p.Val1835=)
c.6252G>A (p.Val2084=)
 dbSNP gnomAD v4
16g.3728790A>CCA394553785CREBBPc.6257T>G (p.Val2086Gly)
c.6143T>G (p.Val2048Gly)
c.6212T>G (p.Val2071Gly)
c.5840T>G (p.Val1947Gly)
c.5996T>G (p.Val1999Gly)
c.6203T>G (p.Val2068Gly)
c.5504T>G (p.Val1835Gly)
c.6251T>G (p.Val2084Gly)
 dbSNP
16g.3728790A>GCA394553784CREBBPc.6257T>C (p.Val2086Ala)
c.6143T>C (p.Val2048Ala)
c.6212T>C (p.Val2071Ala)
c.5840T>C (p.Val1947Ala)
c.5996T>C (p.Val1999Ala)
c.6203T>C (p.Val2068Ala)
c.5504T>C (p.Val1835Ala)
c.6251T>C (p.Val2084Ala)
 dbSNP gnomAD v4
16g.3728790A>TCA394553783CREBBPc.6257T>A (p.Val2086Glu)
c.6143T>A (p.Val2048Glu)
c.6212T>A (p.Val2071Glu)
c.5840T>A (p.Val1947Glu)
c.5996T>A (p.Val1999Glu)
c.6203T>A (p.Val2068Glu)
c.5504T>A (p.Val1835Glu)
c.6251T>A (p.Val2084Glu)
 dbSNP
16g.3728791C>ACA394553786CREBBPc.6256G>T (p.Val2086Leu)
c.6142G>T (p.Val2048Leu)
c.6211G>T (p.Val2071Leu)
c.5839G>T (p.Val1947Leu)
c.5995G>T (p.Val1999Leu)
c.6202G>T (p.Val2068Leu)
c.5503G>T (p.Val1835Leu)
c.6250G>T (p.Val2084Leu)
16g.3728791C>GCA394553787CREBBPc.6256G>C (p.Val2086Leu)
c.6142G>C (p.Val2048Leu)
c.6211G>C (p.Val2071Leu)
c.5839G>C (p.Val1947Leu)
c.5995G>C (p.Val1999Leu)
c.6202G>C (p.Val2068Leu)
c.5503G>C (p.Val1835Leu)
c.6250G>C (p.Val2084Leu)
16g.3728791C>TCA394553788CREBBPc.6256G>A (p.Val2086Met)
c.6142G>A (p.Val2048Met)
c.6211G>A (p.Val2071Met)
c.5839G>A (p.Val1947Met)
c.5995G>A (p.Val1999Met)
c.6202G>A (p.Val2068Met)
c.5503G>A (p.Val1835Met)
c.6250G>A (p.Val2084Met)
 dbSNP
16g.3728791_3728792dupCA2805632986CREBBPc.6255_6256dup (p.Val2086GlyfsTer3)
c.6141_6142dup (p.Val2048GlyfsTer3)
c.6210_6211dup (p.Val2071GlyfsTer3)
c.5838_5839dup (p.Val1947GlyfsTer3)
c.5994_5995dup (p.Val1999GlyfsTer3)
c.6201_6202dup (p.Val2068GlyfsTer3)
c.5502_5503dup (p.Val1835GlyfsTer3)
c.6249_6250dup (p.Val2084GlyfsTer3)
16g.3728792C>ACA394553789CREBBPc.6255G>T (p.Gln2085His)
c.6141G>T (p.Gln2047His)
c.6210G>T (p.Gln2070His)
c.5838G>T (p.Gln1946His)
c.5994G>T (p.Gln1998His)
c.6201G>T (p.Gln2067His)
c.5502G>T (p.Gln1834His)
c.6249G>T (p.Gln2083His)
16g.3728792C=CA2202928852CREBBPc.6255G= (p.Gln2085=)
c.6141G= (p.Gln2047=)
c.6210G= (p.Gln2070=)
c.5838G= (p.Gln1946=)
c.5994G= (p.Gln1998=)
c.6201G= (p.Gln2067=)
c.5502G= (p.Gln1834=)
c.6249G= (p.Gln2083=)
16g.3728792C>GCA394553790CREBBPc.6255G>C (p.Gln2085His)
c.6141G>C (p.Gln2047His)
c.6210G>C (p.Gln2070His)
c.5838G>C (p.Gln1946His)
c.5994G>C (p.Gln1998His)
c.6201G>C (p.Gln2067His)
c.5502G>C (p.Gln1834His)
c.6249G>C (p.Gln2083His)
16g.3728792C>TCA7869152CREBBPc.6255G>A (p.Gln2085=)
c.6141G>A (p.Gln2047=)
c.6210G>A (p.Gln2070=)
c.5838G>A (p.Gln1946=)
c.5994G>A (p.Gln1998=)
c.6201G>A (p.Gln2067=)
c.5502G>A (p.Gln1834=)
c.6249G>A (p.Gln2083=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728793T>ACA394553791CREBBPc.6254A>T (p.Gln2085Leu)
c.6140A>T (p.Gln2047Leu)
c.6209A>T (p.Gln2070Leu)
c.5837A>T (p.Gln1946Leu)
c.5993A>T (p.Gln1998Leu)
c.6200A>T (p.Gln2067Leu)
c.5501A>T (p.Gln1834Leu)
c.6248A>T (p.Gln2083Leu)
 dbSNP
16g.3728793T>CCA394553792CREBBPc.6254A>G (p.Gln2085Arg)
c.6140A>G (p.Gln2047Arg)
c.6209A>G (p.Gln2070Arg)
c.5837A>G (p.Gln1946Arg)
c.5993A>G (p.Gln1998Arg)
c.6200A>G (p.Gln2067Arg)
c.5501A>G (p.Gln1834Arg)
c.6248A>G (p.Gln2083Arg)
 dbSNP
16g.3728793T>GCA394553793CREBBPc.6254A>C (p.Gln2085Pro)
c.6140A>C (p.Gln2047Pro)
c.6209A>C (p.Gln2070Pro)
c.5837A>C (p.Gln1946Pro)
c.5993A>C (p.Gln1998Pro)
c.6200A>C (p.Gln2067Pro)
c.5501A>C (p.Gln1834Pro)
c.6248A>C (p.Gln2083Pro)
16g.3728794G>ACA394553794CREBBPc.6253C>T (p.Gln2085Ter)
c.6139C>T (p.Gln2047Ter)
c.6208C>T (p.Gln2070Ter)
c.5836C>T (p.Gln1946Ter)
c.5992C>T (p.Gln1998Ter)
c.6199C>T (p.Gln2067Ter)
c.5500C>T (p.Gln1834Ter)
c.6247C>T (p.Gln2083Ter)
 dbSNP COSMIC
16g.3728794G>CCA394553795CREBBPc.6253C>G (p.Gln2085Glu)
c.6139C>G (p.Gln2047Glu)
c.6208C>G (p.Gln2070Glu)
c.5836C>G (p.Gln1946Glu)
c.5992C>G (p.Gln1998Glu)
c.6199C>G (p.Gln2067Glu)
c.5500C>G (p.Gln1834Glu)
c.6247C>G (p.Gln2083Glu)
 dbSNP
16g.3728794G>TCA394553796CREBBPc.6253C>A (p.Gln2085Lys)
c.6139C>A (p.Gln2047Lys)
c.6208C>A (p.Gln2070Lys)
c.5836C>A (p.Gln1946Lys)
c.5992C>A (p.Gln1998Lys)
c.6199C>A (p.Gln2067Lys)
c.5500C>A (p.Gln1834Lys)
c.6247C>A (p.Gln2083Lys)
 dbSNP
16g.3728795C>ACA394553797CREBBPc.6252G>T (p.Gln2084His)
c.6138G>T (p.Gln2046His)
c.6207G>T (p.Gln2069His)
c.5835G>T (p.Gln1945His)
c.5991G>T (p.Gln1997His)
c.6198G>T (p.Gln2066His)
c.5499G>T (p.Gln1833His)
c.6246G>T (p.Gln2082His)
 dbSNP
16g.3728795C=CA2202928853CREBBPc.6252G= (p.Gln2084=)
c.6138G= (p.Gln2046=)
c.6207G= (p.Gln2069=)
c.5835G= (p.Gln1945=)
c.5991G= (p.Gln1997=)
c.6198G= (p.Gln2066=)
c.5499G= (p.Gln1833=)
c.6246G= (p.Gln2082=)
16g.3728795C>GCA394553798CREBBPc.6252G>C (p.Gln2084His)
c.6138G>C (p.Gln2046His)
c.6207G>C (p.Gln2069His)
c.5835G>C (p.Gln1945His)
c.5991G>C (p.Gln1997His)
c.6198G>C (p.Gln2066His)
c.5499G>C (p.Gln1833His)
c.6246G>C (p.Gln2082His)
 dbSNP
16g.3728795C>TCA493393671CREBBPc.6252G>A (p.Gln2084=)
c.6138G>A (p.Gln2046=)
c.6207G>A (p.Gln2069=)
c.5835G>A (p.Gln1945=)
c.5991G>A (p.Gln1997=)
c.6198G>A (p.Gln2066=)
c.5499G>A (p.Gln1833=)
c.6246G>A (p.Gln2082=)
 dbSNP gnomAD v4
16g.3728796T>ACA394553800CREBBPc.6251A>T (p.Gln2084Leu)
c.6137A>T (p.Gln2046Leu)
c.6206A>T (p.Gln2069Leu)
c.5834A>T (p.Gln1945Leu)
c.5990A>T (p.Gln1997Leu)
c.6197A>T (p.Gln2066Leu)
c.5498A>T (p.Gln1833Leu)
c.6245A>T (p.Gln2082Leu)
 dbSNP
16g.3728796T>CCA394553801CREBBPc.6251A>G (p.Gln2084Arg)
c.6137A>G (p.Gln2046Arg)
c.6206A>G (p.Gln2069Arg)
c.5834A>G (p.Gln1945Arg)
c.5990A>G (p.Gln1997Arg)
c.6197A>G (p.Gln2066Arg)
c.5498A>G (p.Gln1833Arg)
c.6245A>G (p.Gln2082Arg)
16g.3728796T>GCA394553799CREBBPc.6251A>C (p.Gln2084Pro)
c.6137A>C (p.Gln2046Pro)
c.6206A>C (p.Gln2069Pro)
c.5834A>C (p.Gln1945Pro)
c.5990A>C (p.Gln1997Pro)
c.6197A>C (p.Gln2066Pro)
c.5498A>C (p.Gln1833Pro)
c.6245A>C (p.Gln2082Pro)
16g.3728797delCA2695222737CREBBPc.6250del (p.Gln2084SerfsTer4)
c.6136del (p.Gln2046SerfsTer4)
c.6205del (p.Gln2069SerfsTer4)
c.5833del (p.Gln1945SerfsTer4)
c.5989del (p.Gln1997SerfsTer4)
c.6196del (p.Gln2066SerfsTer4)
c.5497del (p.Gln1833SerfsTer4)
c.6244del (p.Gln2082SerfsTer4)
16g.3728797G>ACA394553802CREBBPc.6250C>T (p.Gln2084Ter)
c.6136C>T (p.Gln2046Ter)
c.6205C>T (p.Gln2069Ter)
c.5833C>T (p.Gln1945Ter)
c.5989C>T (p.Gln1997Ter)
c.6196C>T (p.Gln2066Ter)
c.5497C>T (p.Gln1833Ter)
c.6244C>T (p.Gln2082Ter)
 ClinVar dbSNP
16g.3728797G>CCA394553803CREBBPc.6250C>G (p.Gln2084Glu)
c.6136C>G (p.Gln2046Glu)
c.6205C>G (p.Gln2069Glu)
c.5833C>G (p.Gln1945Glu)
c.5989C>G (p.Gln1997Glu)
c.6196C>G (p.Gln2066Glu)
c.5497C>G (p.Gln1833Glu)
c.6244C>G (p.Gln2082Glu)
 dbSNP
16g.3728797G=CA2202928854CREBBPc.6250C= (p.Gln2084=)
c.6136C= (p.Gln2046=)
c.6205C= (p.Gln2069=)
c.5833C= (p.Gln1945=)
c.5989C= (p.Gln1997=)
c.6196C= (p.Gln2066=)
c.5497C= (p.Gln1833=)
c.6244C= (p.Gln2082=)
16g.3728797G>TCA394553804CREBBPc.6250C>A (p.Gln2084Lys)
c.6136C>A (p.Gln2046Lys)
c.6205C>A (p.Gln2069Lys)
c.5833C>A (p.Gln1945Lys)
c.5989C>A (p.Gln1997Lys)
c.6196C>A (p.Gln2066Lys)
c.5497C>A (p.Gln1833Lys)
c.6244C>A (p.Gln2082Lys)
16g.3728798T>ACA394553805CREBBPc.6249A>T (p.Gln2083His)
c.6135A>T (p.Gln2045His)
c.6204A>T (p.Gln2068His)
c.5832A>T (p.Gln1944His)
c.5988A>T (p.Gln1996His)
c.6195A>T (p.Gln2065His)
c.5496A>T (p.Gln1832His)
c.6243A>T (p.Gln2081His)
16g.3728798T>CCA493393672CREBBPc.6249A>G (p.Gln2083=)
c.6135A>G (p.Gln2045=)
c.6204A>G (p.Gln2068=)
c.5832A>G (p.Gln1944=)
c.5988A>G (p.Gln1996=)
c.6195A>G (p.Gln2065=)
c.5496A>G (p.Gln1832=)
c.6243A>G (p.Gln2081=)
 gnomAD v4
16g.3728798T>GCA394553806CREBBPc.6249A>C (p.Gln2083His)
c.6135A>C (p.Gln2045His)
c.6204A>C (p.Gln2068His)
c.5832A>C (p.Gln1944His)
c.5988A>C (p.Gln1996His)
c.6195A>C (p.Gln2065His)
c.5496A>C (p.Gln1832His)
c.6243A>C (p.Gln2081His)
16g.3728799T>ACA394553807CREBBPc.6248A>T (p.Gln2083Leu)
c.6134A>T (p.Gln2045Leu)
c.6203A>T (p.Gln2068Leu)
c.5831A>T (p.Gln1944Leu)
c.5987A>T (p.Gln1996Leu)
c.6194A>T (p.Gln2065Leu)
c.5495A>T (p.Gln1832Leu)
c.6242A>T (p.Gln2081Leu)
 dbSNP
16g.3728799T>CCA394553808CREBBPc.6248A>G (p.Gln2083Arg)
c.6134A>G (p.Gln2045Arg)
c.6203A>G (p.Gln2068Arg)
c.5831A>G (p.Gln1944Arg)
c.5987A>G (p.Gln1996Arg)
c.6194A>G (p.Gln2065Arg)
c.5495A>G (p.Gln1832Arg)
c.6242A>G (p.Gln2081Arg)
16g.3728799T>GCA394553809CREBBPc.6248A>C (p.Gln2083Pro)
c.6134A>C (p.Gln2045Pro)
c.6203A>C (p.Gln2068Pro)
c.5831A>C (p.Gln1944Pro)
c.5987A>C (p.Gln1996Pro)
c.6194A>C (p.Gln2065Pro)
c.5495A>C (p.Gln1832Pro)
c.6242A>C (p.Gln2081Pro)
 dbSNP
16g.3728800G>ACA394553810CREBBPc.6247C>T (p.Gln2083Ter)
c.6133C>T (p.Gln2045Ter)
c.6202C>T (p.Gln2068Ter)
c.5830C>T (p.Gln1944Ter)
c.5986C>T (p.Gln1996Ter)
c.6193C>T (p.Gln2065Ter)
c.5494C>T (p.Gln1832Ter)
c.6241C>T (p.Gln2081Ter)
 dbSNP
16g.3728800G>CCA394553811CREBBPc.6247C>G (p.Gln2083Glu)
c.6133C>G (p.Gln2045Glu)
c.6202C>G (p.Gln2068Glu)
c.5830C>G (p.Gln1944Glu)
c.5986C>G (p.Gln1996Glu)
c.6193C>G (p.Gln2065Glu)
c.5494C>G (p.Gln1832Glu)
c.6241C>G (p.Gln2081Glu)
 dbSNP
16g.3728800G>TCA394553812CREBBPc.6247C>A (p.Gln2083Lys)
c.6133C>A (p.Gln2045Lys)
c.6202C>A (p.Gln2068Lys)
c.5830C>A (p.Gln1944Lys)
c.5986C>A (p.Gln1996Lys)
c.6193C>A (p.Gln2065Lys)
c.5494C>A (p.Gln1832Lys)
c.6241C>A (p.Gln2081Lys)
16g.3728801C>ACA394553813CREBBPc.6246G>T (p.Gln2082His)
c.6132G>T (p.Gln2044His)
c.6201G>T (p.Gln2067His)
c.5829G>T (p.Gln1943His)
c.5985G>T (p.Gln1995His)
c.6192G>T (p.Gln2064His)
c.5493G>T (p.Gln1831His)
c.6240G>T (p.Gln2080His)
 dbSNP
16g.3728801C=CA2202928855CREBBPc.6246G= (p.Gln2082=)
c.6132G= (p.Gln2044=)
c.6201G= (p.Gln2067=)
c.5829G= (p.Gln1943=)
c.5985G= (p.Gln1995=)
c.6192G= (p.Gln2064=)
c.5493G= (p.Gln1831=)
c.6240G= (p.Gln2080=)
16g.3728801C>GCA394553814CREBBPc.6246G>C (p.Gln2082His)
c.6132G>C (p.Gln2044His)
c.6201G>C (p.Gln2067His)
c.5829G>C (p.Gln1943His)
c.5985G>C (p.Gln1995His)
c.6192G>C (p.Gln2064His)
c.5493G>C (p.Gln1831His)
c.6240G>C (p.Gln2080His)
 dbSNP
16g.3728801C>TCA493393673CREBBPc.6246G>A (p.Gln2082=)
c.6132G>A (p.Gln2044=)
c.6201G>A (p.Gln2067=)
c.5829G>A (p.Gln1943=)
c.5985G>A (p.Gln1995=)
c.6192G>A (p.Gln2064=)
c.5493G>A (p.Gln1831=)
c.6240G>A (p.Gln2080=)
 dbSNP gnomAD v2
16g.3728802T>ACA394553817CREBBPc.6245A>T (p.Gln2082Leu)
c.6131A>T (p.Gln2044Leu)
c.6200A>T (p.Gln2067Leu)
c.5828A>T (p.Gln1943Leu)
c.5984A>T (p.Gln1995Leu)
c.6191A>T (p.Gln2064Leu)
c.5492A>T (p.Gln1831Leu)
c.6239A>T (p.Gln2080Leu)
 dbSNP
16g.3728802T>CCA394553815CREBBPc.6245A>G (p.Gln2082Arg)
c.6131A>G (p.Gln2044Arg)
c.6200A>G (p.Gln2067Arg)
c.5828A>G (p.Gln1943Arg)
c.5984A>G (p.Gln1995Arg)
c.6191A>G (p.Gln2064Arg)
c.5492A>G (p.Gln1831Arg)
c.6239A>G (p.Gln2080Arg)
 gnomAD v4
16g.3728802T>GCA394553816CREBBPc.6245A>C (p.Gln2082Pro)
c.6131A>C (p.Gln2044Pro)
c.6200A>C (p.Gln2067Pro)
c.5828A>C (p.Gln1943Pro)
c.5984A>C (p.Gln1995Pro)
c.6191A>C (p.Gln2064Pro)
c.5492A>C (p.Gln1831Pro)
c.6239A>C (p.Gln2080Pro)
16g.3728803G>ACA16043513CREBBPc.6244C>T (p.Gln2082Ter)
c.6130C>T (p.Gln2044Ter)
c.6199C>T (p.Gln2067Ter)
c.5827C>T (p.Gln1943Ter)
c.5983C>T (p.Gln1995Ter)
c.6190C>T (p.Gln2064Ter)
c.5491C>T (p.Gln1831Ter)
c.6238C>T (p.Gln2080Ter)
 ClinVar dbSNP
16g.3728803G>CCA394553818CREBBPc.6244C>G (p.Gln2082Glu)
c.6130C>G (p.Gln2044Glu)
c.6199C>G (p.Gln2067Glu)
c.5827C>G (p.Gln1943Glu)
c.5983C>G (p.Gln1995Glu)
c.6190C>G (p.Gln2064Glu)
c.5491C>G (p.Gln1831Glu)
c.6238C>G (p.Gln2080Glu)
 dbSNP
16g.3728803G=CA2202928856CREBBPc.6244C= (p.Gln2082=)
c.6130C= (p.Gln2044=)
c.6199C= (p.Gln2067=)
c.5827C= (p.Gln1943=)
c.5983C= (p.Gln1995=)
c.6190C= (p.Gln2064=)
c.5491C= (p.Gln1831=)
c.6238C= (p.Gln2080=)
16g.3728803G>TCA394553819CREBBPc.6244C>A (p.Gln2082Lys)
c.6130C>A (p.Gln2044Lys)
c.6199C>A (p.Gln2067Lys)
c.5827C>A (p.Gln1943Lys)
c.5983C>A (p.Gln1995Lys)
c.6190C>A (p.Gln2064Lys)
c.5491C>A (p.Gln1831Lys)
c.6238C>A (p.Gln2080Lys)
 dbSNP
16g.3728804C>ACA394553820CREBBPc.6243G>T (p.Gln2081His)
c.6129G>T (p.Gln2043His)
c.6198G>T (p.Gln2066His)
c.5826G>T (p.Gln1942His)
c.5982G>T (p.Gln1994His)
c.6189G>T (p.Gln2063His)
c.5490G>T (p.Gln1830His)
c.6237G>T (p.Gln2079His)
 dbSNP
16g.3728804C>GCA394553821CREBBPc.6243G>C (p.Gln2081His)
c.6129G>C (p.Gln2043His)
c.6198G>C (p.Gln2066His)
c.5826G>C (p.Gln1942His)
c.5982G>C (p.Gln1994His)
c.6189G>C (p.Gln2063His)
c.5490G>C (p.Gln1830His)
c.6237G>C (p.Gln2079His)
 dbSNP
16g.3728804C>TCA493393674CREBBPc.6243G>A (p.Gln2081=)
c.6129G>A (p.Gln2043=)
c.6198G>A (p.Gln2066=)
c.5826G>A (p.Gln1942=)
c.5982G>A (p.Gln1994=)
c.6189G>A (p.Gln2063=)
c.5490G>A (p.Gln1830=)
c.6237G>A (p.Gln2079=)
 dbSNP
16g.3728805T>ACA394553822CREBBPc.6242A>T (p.Gln2081Leu)
c.6128A>T (p.Gln2043Leu)
c.6197A>T (p.Gln2066Leu)
c.5825A>T (p.Gln1942Leu)
c.5981A>T (p.Gln1994Leu)
c.6188A>T (p.Gln2063Leu)
c.5489A>T (p.Gln1830Leu)
c.6236A>T (p.Gln2079Leu)
 dbSNP
16g.3728805T>CCA394553823CREBBPc.6242A>G (p.Gln2081Arg)
c.6128A>G (p.Gln2043Arg)
c.6197A>G (p.Gln2066Arg)
c.5825A>G (p.Gln1942Arg)
c.5981A>G (p.Gln1994Arg)
c.6188A>G (p.Gln2063Arg)
c.5489A>G (p.Gln1830Arg)
c.6236A>G (p.Gln2079Arg)
 dbSNP
16g.3728805T>GCA394553824CREBBPc.6242A>C (p.Gln2081Pro)
c.6128A>C (p.Gln2043Pro)
c.6197A>C (p.Gln2066Pro)
c.5825A>C (p.Gln1942Pro)
c.5981A>C (p.Gln1994Pro)
c.6188A>C (p.Gln2063Pro)
c.5489A>C (p.Gln1830Pro)
c.6236A>C (p.Gln2079Pro)
16g.3728806G>ACA10603392CREBBPc.6241C>T (p.Gln2081Ter)
c.6127C>T (p.Gln2043Ter)
c.6196C>T (p.Gln2066Ter)
c.5824C>T (p.Gln1942Ter)
c.5980C>T (p.Gln1994Ter)
c.6187C>T (p.Gln2063Ter)
c.5488C>T (p.Gln1830Ter)
c.6235C>T (p.Gln2079Ter)
 ClinVar dbSNP
16g.3728806G>CCA394553825CREBBPc.6241C>G (p.Gln2081Glu)
c.6127C>G (p.Gln2043Glu)
c.6196C>G (p.Gln2066Glu)
c.5824C>G (p.Gln1942Glu)
c.5980C>G (p.Gln1994Glu)
c.6187C>G (p.Gln2063Glu)
c.5488C>G (p.Gln1830Glu)
c.6235C>G (p.Gln2079Glu)
 dbSNP
16g.3728806G=CA2202928857CREBBPc.6241C= (p.Gln2081=)
c.6127C= (p.Gln2043=)
c.6196C= (p.Gln2066=)
c.5824C= (p.Gln1942=)
c.5980C= (p.Gln1994=)
c.6187C= (p.Gln2063=)
c.5488C= (p.Gln1830=)
c.6235C= (p.Gln2079=)
16g.3728806G>TCA394553826CREBBPc.6241C>A (p.Gln2081Lys)
c.6127C>A (p.Gln2043Lys)
c.6196C>A (p.Gln2066Lys)
c.5824C>A (p.Gln1942Lys)
c.5980C>A (p.Gln1994Lys)
c.6187C>A (p.Gln2063Lys)
c.5488C>A (p.Gln1830Lys)
c.6235C>A (p.Gln2079Lys)
16g.3728807A>CCA493393675CREBBPc.6240T>G (p.Pro2080=)
c.6126T>G (p.Pro2042=)
c.6195T>G (p.Pro2065=)
c.5823T>G (p.Pro1941=)
c.5979T>G (p.Pro1993=)
c.6186T>G (p.Pro2062=)
c.5487T>G (p.Pro1829=)
c.6234T>G (p.Pro2078=)
16g.3728807A>GCA493393676CREBBPc.6240T>C (p.Pro2080=)
c.6126T>C (p.Pro2042=)
c.6195T>C (p.Pro2065=)
c.5823T>C (p.Pro1941=)
c.5979T>C (p.Pro1993=)
c.6186T>C (p.Pro2062=)
c.5487T>C (p.Pro1829=)
c.6234T>C (p.Pro2078=)
 gnomAD v4
16g.3728807A>TCA493393677CREBBPc.6240T>A (p.Pro2080=)
c.6126T>A (p.Pro2042=)
c.6195T>A (p.Pro2065=)
c.5823T>A (p.Pro1941=)
c.5979T>A (p.Pro1993=)
c.6186T>A (p.Pro2062=)
c.5487T>A (p.Pro1829=)
c.6234T>A (p.Pro2078=)
 gnomAD v4
16g.3728808G>ACA394553827CREBBPc.6239C>T (p.Pro2080Leu)
c.6125C>T (p.Pro2042Leu)
c.6194C>T (p.Pro2065Leu)
c.5822C>T (p.Pro1941Leu)
c.5978C>T (p.Pro1993Leu)
c.6185C>T (p.Pro2062Leu)
c.5486C>T (p.Pro1829Leu)
c.6233C>T (p.Pro2078Leu)
 dbSNP gnomAD v4
16g.3728808G>CCA394553829CREBBPc.6239C>G (p.Pro2080Arg)
c.6125C>G (p.Pro2042Arg)
c.6194C>G (p.Pro2065Arg)
c.5822C>G (p.Pro1941Arg)
c.5978C>G (p.Pro1993Arg)
c.6185C>G (p.Pro2062Arg)
c.5486C>G (p.Pro1829Arg)
c.6233C>G (p.Pro2078Arg)
16g.3728808G>TCA394553828CREBBPc.6239C>A (p.Pro2080His)
c.6125C>A (p.Pro2042His)
c.6194C>A (p.Pro2065His)
c.5822C>A (p.Pro1941His)
c.5978C>A (p.Pro1993His)
c.6185C>A (p.Pro2062His)
c.5486C>A (p.Pro1829His)
c.6233C>A (p.Pro2078His)
 dbSNP
16g.3728810_3728811delCA2580091133CREBBPc.6238_6239del (p.Pro2080SerfsTer?)
c.6124_6125del (p.Pro2042SerfsTer?)
c.6193_6194del (p.Pro2065SerfsTer?)
c.5821_5822del (p.Pro1941SerfsTer?)
c.5977_5978del (p.Pro1993SerfsTer?)
c.6184_6185del (p.Pro2062SerfsTer?)
c.5485_5486del (p.Pro1829SerfsTer?)
c.6232_6233del (p.Pro2078SerfsTer?)
 ClinVar
16g.3728809G>ACA394553830CREBBPc.6238C>T (p.Pro2080Ser)
c.6124C>T (p.Pro2042Ser)
c.6193C>T (p.Pro2065Ser)
c.5821C>T (p.Pro1941Ser)
c.5977C>T (p.Pro1993Ser)
c.6184C>T (p.Pro2062Ser)
c.5485C>T (p.Pro1829Ser)
c.6232C>T (p.Pro2078Ser)
 dbSNP
16g.3728809G>CCA394553832CREBBPc.6238C>G (p.Pro2080Ala)
c.6124C>G (p.Pro2042Ala)
c.6193C>G (p.Pro2065Ala)
c.5821C>G (p.Pro1941Ala)
c.5977C>G (p.Pro1993Ala)
c.6184C>G (p.Pro2062Ala)
c.5485C>G (p.Pro1829Ala)
c.6232C>G (p.Pro2078Ala)
 dbSNP
16g.3728809G=CA2202928858CREBBPc.6238C= (p.Pro2080=)
c.6124C= (p.Pro2042=)
c.6193C= (p.Pro2065=)
c.5821C= (p.Pro1941=)
c.5977C= (p.Pro1993=)
c.6184C= (p.Pro2062=)
c.5485C= (p.Pro1829=)
c.6232C= (p.Pro2078=)
16g.3728809G>TCA394553831CREBBPc.6238C>A (p.Pro2080Thr)
c.6124C>A (p.Pro2042Thr)
c.6193C>A (p.Pro2065Thr)
c.5821C>A (p.Pro1941Thr)
c.5977C>A (p.Pro1993Thr)
c.6184C>A (p.Pro2062Thr)
c.5485C>A (p.Pro1829Thr)
c.6232C>A (p.Pro2078Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3728810G>ACA493393678CREBBPc.6237C>T (p.Ser2079=)
c.6123C>T (p.Ser2041=)
c.6192C>T (p.Ser2064=)
c.5820C>T (p.Ser1940=)
c.5976C>T (p.Ser1992=)
c.6183C>T (p.Ser2061=)
c.5484C>T (p.Ser1828=)
c.6231C>T (p.Ser2077=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3728810G>CCA493393679CREBBPc.6237C>G (p.Ser2079=)
c.6123C>G (p.Ser2041=)
c.6192C>G (p.Ser2064=)
c.5820C>G (p.Ser1940=)
c.5976C>G (p.Ser1992=)
c.6183C>G (p.Ser2061=)
c.5484C>G (p.Ser1828=)
c.6231C>G (p.Ser2077=)
 dbSNP
16g.3728810G=CA2202928859CREBBPc.6237C= (p.Ser2079=)
c.6123C= (p.Ser2041=)
c.6192C= (p.Ser2064=)
c.5820C= (p.Ser1940=)
c.5976C= (p.Ser1992=)
c.6183C= (p.Ser2061=)
c.5484C= (p.Ser1828=)
c.6231C= (p.Ser2077=)
16g.3728810G>TCA7869153CREBBPc.6237C>A (p.Ser2079=)
c.6123C>A (p.Ser2041=)
c.6192C>A (p.Ser2064=)
c.5820C>A (p.Ser1940=)
c.5976C>A (p.Ser1992=)
c.6183C>A (p.Ser2061=)
c.5484C>A (p.Ser1828=)
c.6231C>A (p.Ser2077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728811G>ACA394553834CREBBPc.6236C>T (p.Ser2079Phe)
c.6122C>T (p.Ser2041Phe)
c.6191C>T (p.Ser2064Phe)
c.5819C>T (p.Ser1940Phe)
c.5975C>T (p.Ser1992Phe)
c.6182C>T (p.Ser2061Phe)
c.5483C>T (p.Ser1828Phe)
c.6230C>T (p.Ser2077Phe)
 dbSNP
16g.3728811G>CCA394553833CREBBPc.6236C>G (p.Ser2079Cys)
c.6122C>G (p.Ser2041Cys)
c.6191C>G (p.Ser2064Cys)
c.5819C>G (p.Ser1940Cys)
c.5975C>G (p.Ser1992Cys)
c.6182C>G (p.Ser2061Cys)
c.5483C>G (p.Ser1828Cys)
c.6230C>G (p.Ser2077Cys)
 dbSNP
16g.3728811G>TCA394553835CREBBPc.6236C>A (p.Ser2079Tyr)
c.6122C>A (p.Ser2041Tyr)
c.6191C>A (p.Ser2064Tyr)
c.5819C>A (p.Ser1940Tyr)
c.5975C>A (p.Ser1992Tyr)
c.6182C>A (p.Ser2061Tyr)
c.5483C>A (p.Ser1828Tyr)
c.6230C>A (p.Ser2077Tyr)
 dbSNP gnomAD v4
16g.3728812A>CCA394553836CREBBPc.6235T>G (p.Ser2079Ala)
c.6121T>G (p.Ser2041Ala)
c.6190T>G (p.Ser2064Ala)
c.5818T>G (p.Ser1940Ala)
c.5974T>G (p.Ser1992Ala)
c.6181T>G (p.Ser2061Ala)
c.5482T>G (p.Ser1828Ala)
c.6229T>G (p.Ser2077Ala)
 gnomAD v4
16g.3728812A>GCA394553838CREBBPc.6235T>C (p.Ser2079Pro)
c.6121T>C (p.Ser2041Pro)
c.6190T>C (p.Ser2064Pro)
c.5818T>C (p.Ser1940Pro)
c.5974T>C (p.Ser1992Pro)
c.6181T>C (p.Ser2061Pro)
c.5482T>C (p.Ser1828Pro)
c.6229T>C (p.Ser2077Pro)
16g.3728812A>TCA394553837CREBBPc.6235T>A (p.Ser2079Thr)
c.6121T>A (p.Ser2041Thr)
c.6190T>A (p.Ser2064Thr)
c.5818T>A (p.Ser1940Thr)
c.5974T>A (p.Ser1992Thr)
c.6181T>A (p.Ser2061Thr)
c.5482T>A (p.Ser1828Thr)
c.6229T>A (p.Ser2077Thr)
 dbSNP
16g.3728813G>ACA276971719CREBBPc.6234C>T (p.Ser2078=)
c.6120C>T (p.Ser2040=)
c.6189C>T (p.Ser2063=)
c.5817C>T (p.Ser1939=)
c.5973C>T (p.Ser1991=)
c.6180C>T (p.Ser2060=)
c.5481C>T (p.Ser1827=)
c.6228C>T (p.Ser2076=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3728813G>CCA394553840CREBBPc.6234C>G (p.Ser2078Arg)
c.6120C>G (p.Ser2040Arg)
c.6189C>G (p.Ser2063Arg)
c.5817C>G (p.Ser1939Arg)
c.5973C>G (p.Ser1991Arg)
c.6180C>G (p.Ser2060Arg)
c.5481C>G (p.Ser1827Arg)
c.6228C>G (p.Ser2076Arg)
 dbSNP
16g.3728813G=CA2202928860CREBBPc.6234C= (p.Ser2078=)
c.6120C= (p.Ser2040=)
c.6189C= (p.Ser2063=)
c.5817C= (p.Ser1939=)
c.5973C= (p.Ser1991=)
c.6180C= (p.Ser2060=)
c.5481C= (p.Ser1827=)
c.6228C= (p.Ser2076=)
16g.3728813G>TCA394553839CREBBPc.6234C>A (p.Ser2078Arg)
c.6120C>A (p.Ser2040Arg)
c.6189C>A (p.Ser2063Arg)
c.5817C>A (p.Ser1939Arg)
c.5973C>A (p.Ser1991Arg)
c.6180C>A (p.Ser2060Arg)
c.5481C>A (p.Ser1827Arg)
c.6228C>A (p.Ser2076Arg)
 dbSNP
16g.3728814C>ACA394553841CREBBPc.6233G>T (p.Ser2078Ile)
c.6119G>T (p.Ser2040Ile)
c.6188G>T (p.Ser2063Ile)
c.5816G>T (p.Ser1939Ile)
c.5972G>T (p.Ser1991Ile)
c.6179G>T (p.Ser2060Ile)
c.5480G>T (p.Ser1827Ile)
c.6227G>T (p.Ser2076Ile)
 dbSNP
16g.3728814C>GCA394553843CREBBPc.6233G>C (p.Ser2078Thr)
c.6119G>C (p.Ser2040Thr)
c.6188G>C (p.Ser2063Thr)
c.5816G>C (p.Ser1939Thr)
c.5972G>C (p.Ser1991Thr)
c.6179G>C (p.Ser2060Thr)
c.5480G>C (p.Ser1827Thr)
c.6227G>C (p.Ser2076Thr)
 dbSNP
16g.3728814C>TCA394553842CREBBPc.6233G>A (p.Ser2078Asn)
c.6119G>A (p.Ser2040Asn)
c.6188G>A (p.Ser2063Asn)
c.5816G>A (p.Ser1939Asn)
c.5972G>A (p.Ser1991Asn)
c.6179G>A (p.Ser2060Asn)
c.5480G>A (p.Ser1827Asn)
c.6227G>A (p.Ser2076Asn)
 dbSNP
16g.3728815T>ACA394553844CREBBPc.6232A>T (p.Ser2078Cys)
c.6118A>T (p.Ser2040Cys)
c.6187A>T (p.Ser2063Cys)
c.5815A>T (p.Ser1939Cys)
c.5971A>T (p.Ser1991Cys)
c.6178A>T (p.Ser2060Cys)
c.5479A>T (p.Ser1827Cys)
c.6226A>T (p.Ser2076Cys)
16g.3728815T>CCA394553845CREBBPc.6232A>G (p.Ser2078Gly)
c.6118A>G (p.Ser2040Gly)
c.6187A>G (p.Ser2063Gly)
c.5815A>G (p.Ser1939Gly)
c.5971A>G (p.Ser1991Gly)
c.6178A>G (p.Ser2060Gly)
c.5479A>G (p.Ser1827Gly)
c.6226A>G (p.Ser2076Gly)
16g.3728815T>GCA394553846CREBBPc.6232A>C (p.Ser2078Arg)
c.6118A>C (p.Ser2040Arg)
c.6187A>C (p.Ser2063Arg)
c.5815A>C (p.Ser1939Arg)
c.5971A>C (p.Ser1991Arg)
c.6178A>C (p.Ser2060Arg)
c.5479A>C (p.Ser1827Arg)
c.6226A>C (p.Ser2076Arg)
16g.3728816G>ACA493393682CREBBPc.6231C>T (p.Pro2077=)
c.6117C>T (p.Pro2039=)
c.6186C>T (p.Pro2062=)
c.5814C>T (p.Pro1938=)
c.5970C>T (p.Pro1990=)
c.6177C>T (p.Pro2059=)
c.5478C>T (p.Pro1826=)
c.6225C>T (p.Pro2075=)
 dbSNP gnomAD v4
16g.3728816G>CCA493393681CREBBPc.6231C>G (p.Pro2077=)
c.6117C>G (p.Pro2039=)
c.6186C>G (p.Pro2062=)
c.5814C>G (p.Pro1938=)
c.5970C>G (p.Pro1990=)
c.6177C>G (p.Pro2059=)
c.5478C>G (p.Pro1826=)
c.6225C>G (p.Pro2075=)
 dbSNP
16g.3728816G>TCA493393680CREBBPc.6231C>A (p.Pro2077=)
c.6117C>A (p.Pro2039=)
c.6186C>A (p.Pro2062=)
c.5814C>A (p.Pro1938=)
c.5970C>A (p.Pro1990=)
c.6177C>A (p.Pro2059=)
c.5478C>A (p.Pro1826=)
c.6225C>A (p.Pro2075=)
16g.3728818delCA2731850401CREBBPc.6231del (p.Ser2078AlafsTer10)
c.6117del (p.Ser2040AlafsTer10)
c.6186del (p.Ser2063AlafsTer10)
c.5814del (p.Ser1939AlafsTer10)
c.5970del (p.Ser1991AlafsTer10)
c.6177del (p.Ser2060AlafsTer10)
c.5478del (p.Ser1827AlafsTer10)
c.6225del (p.Ser2076AlafsTer10)
 dbSNP
16g.3728816_3728826delinsGGGCGACTTCACA2202928861CREBBPc.6221_6231delinsTGAAGTCGCCC (p.Leu2074=)
c.6107_6117delinsTGAAGTCGCCC (p.Leu2036=)
c.6176_6186delinsTGAAGTCGCCC (p.Leu2059=)
c.5804_5814delinsTGAAGTCGCCC (p.Leu1935=)
c.5960_5970delinsTGAAGTCGCCC (p.Leu1987=)
c.6167_6177delinsTGAAGTCGCCC (p.Leu2056=)
c.5468_5478delinsTGAAGTCGCCC (p.Leu1823=)
c.6215_6225delinsTGAAGTCGCCC (p.Leu2072=)
16g.3728817G>ACA394553847CREBBPc.6230C>T (p.Pro2077Leu)
c.6116C>T (p.Pro2039Leu)
c.6185C>T (p.Pro2062Leu)
c.5813C>T (p.Pro1938Leu)
c.5969C>T (p.Pro1990Leu)
c.6176C>T (p.Pro2059Leu)
c.5477C>T (p.Pro1826Leu)
c.6224C>T (p.Pro2075Leu)
 dbSNP
16g.3728817G>CCA394553848CREBBPc.6230C>G (p.Pro2077Arg)
c.6116C>G (p.Pro2039Arg)
c.6185C>G (p.Pro2062Arg)
c.5813C>G (p.Pro1938Arg)
c.5969C>G (p.Pro1990Arg)
c.6176C>G (p.Pro2059Arg)
c.5477C>G (p.Pro1826Arg)
c.6224C>G (p.Pro2075Arg)
 dbSNP
16g.3728817G>TCA394553849CREBBPc.6230C>A (p.Pro2077His)
c.6116C>A (p.Pro2039His)
c.6185C>A (p.Pro2062His)
c.5813C>A (p.Pro1938His)
c.5969C>A (p.Pro1990His)
c.6176C>A (p.Pro2059His)
c.5477C>A (p.Pro1826His)
c.6224C>A (p.Pro2075His)
 dbSNP
16g.3728819_3728828delCA915949061CREBBPc.6221_6230del (p.Leu2074ProfsTer11)
c.6107_6116del (p.Leu2036ProfsTer11)
c.6176_6185del (p.Leu2059ProfsTer11)
c.5804_5813del (p.Leu1935ProfsTer11)
c.5960_5969del (p.Leu1987ProfsTer11)
c.6167_6176del (p.Leu2056ProfsTer11)
c.5468_5477del (p.Leu1823ProfsTer11)
c.6215_6224del (p.Leu2072ProfsTer11)
 ClinVar dbSNP
16g.3728818G>ACA394553850CREBBPc.6229C>T (p.Pro2077Ser)
c.6115C>T (p.Pro2039Ser)
c.6184C>T (p.Pro2062Ser)
c.5812C>T (p.Pro1938Ser)
c.5968C>T (p.Pro1990Ser)
c.6175C>T (p.Pro2059Ser)
c.5476C>T (p.Pro1826Ser)
c.6223C>T (p.Pro2075Ser)
 ClinVar dbSNP
16g.3728818G>CCA394553851CREBBPc.6229C>G (p.Pro2077Ala)
c.6115C>G (p.Pro2039Ala)
c.6184C>G (p.Pro2062Ala)
c.5812C>G (p.Pro1938Ala)
c.5968C>G (p.Pro1990Ala)
c.6175C>G (p.Pro2059Ala)
c.5476C>G (p.Pro1826Ala)
c.6223C>G (p.Pro2075Ala)
 dbSNP
16g.3728818G=CA2202928862CREBBPc.6229C= (p.Pro2077=)
c.6115C= (p.Pro2039=)
c.6184C= (p.Pro2062=)
c.5812C= (p.Pro1938=)
c.5968C= (p.Pro1990=)
c.6175C= (p.Pro2059=)
c.5476C= (p.Pro1826=)
c.6223C= (p.Pro2075=)
16g.3728818G>TCA394553852CREBBPc.6229C>A (p.Pro2077Thr)
c.6115C>A (p.Pro2039Thr)
c.6184C>A (p.Pro2062Thr)
c.5812C>A (p.Pro1938Thr)
c.5968C>A (p.Pro1990Thr)
c.6175C>A (p.Pro2059Thr)
c.5476C>A (p.Pro1826Thr)
c.6223C>A (p.Pro2075Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3728819C>ACA7869155CREBBPc.6228G>T (p.Ser2076=)
c.6114G>T (p.Ser2038=)
c.6183G>T (p.Ser2061=)
c.5811G>T (p.Ser1937=)
c.5967G>T (p.Ser1989=)
c.6174G>T (p.Ser2058=)
c.5475G>T (p.Ser1825=)
c.6222G>T (p.Ser2074=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728819C=CA2202928863CREBBPc.6228G= (p.Ser2076=)
c.6114G= (p.Ser2038=)
c.6183G= (p.Ser2061=)
c.5811G= (p.Ser1937=)
c.5967G= (p.Ser1989=)
c.6174G= (p.Ser2058=)
c.5475G= (p.Ser1825=)
c.6222G= (p.Ser2074=)
16g.3728819C>GCA493393683CREBBPc.6228G>C (p.Ser2076=)
c.6114G>C (p.Ser2038=)
c.6183G>C (p.Ser2061=)
c.5811G>C (p.Ser1937=)
c.5967G>C (p.Ser1989=)
c.6174G>C (p.Ser2058=)
c.5475G>C (p.Ser1825=)
c.6222G>C (p.Ser2074=)
 dbSNP
16g.3728819C>TCA7869154CREBBPc.6228G>A (p.Ser2076=)
c.6114G>A (p.Ser2038=)
c.6183G>A (p.Ser2061=)
c.5811G>A (p.Ser1937=)
c.5967G>A (p.Ser1989=)
c.6174G>A (p.Ser2058=)
c.5475G>A (p.Ser1825=)
c.6222G>A (p.Ser2074=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728820G>ACA394553855CREBBPc.6227C>T (p.Ser2076Leu)
c.6113C>T (p.Ser2038Leu)
c.6182C>T (p.Ser2061Leu)
c.5810C>T (p.Ser1937Leu)
c.5966C>T (p.Ser1989Leu)
c.6173C>T (p.Ser2058Leu)
c.5474C>T (p.Ser1825Leu)
c.6221C>T (p.Ser2074Leu)
 dbSNP gnomAD v4 COSMIC
16g.3728820G>CCA394553854CREBBPc.6227C>G (p.Ser2076Trp)
c.6113C>G (p.Ser2038Trp)
c.6182C>G (p.Ser2061Trp)
c.5810C>G (p.Ser1937Trp)
c.5966C>G (p.Ser1989Trp)
c.6173C>G (p.Ser2058Trp)
c.5474C>G (p.Ser1825Trp)
c.6221C>G (p.Ser2074Trp)
 dbSNP
16g.3728820G>TCA394553853CREBBPc.6227C>A (p.Ser2076Ter)
c.6113C>A (p.Ser2038Ter)
c.6182C>A (p.Ser2061Ter)
c.5810C>A (p.Ser1937Ter)
c.5966C>A (p.Ser1989Ter)
c.6173C>A (p.Ser2058Ter)
c.5474C>A (p.Ser1825Ter)
c.6221C>A (p.Ser2074Ter)
 ClinVar gnomAD v4
16g.3728821A>CCA394553856CREBBPc.6226T>G (p.Ser2076Ala)
c.6112T>G (p.Ser2038Ala)
c.6181T>G (p.Ser2061Ala)
c.5809T>G (p.Ser1937Ala)
c.5965T>G (p.Ser1989Ala)
c.6172T>G (p.Ser2058Ala)
c.5473T>G (p.Ser1825Ala)
c.6220T>G (p.Ser2074Ala)
 dbSNP
16g.3728821A>GCA394553857CREBBPc.6226T>C (p.Ser2076Pro)
c.6112T>C (p.Ser2038Pro)
c.6181T>C (p.Ser2061Pro)
c.5809T>C (p.Ser1937Pro)
c.5965T>C (p.Ser1989Pro)
c.6172T>C (p.Ser2058Pro)
c.5473T>C (p.Ser1825Pro)
c.6220T>C (p.Ser2074Pro)
 dbSNP
16g.3728821A>TCA394553858CREBBPc.6226T>A (p.Ser2076Thr)
c.6112T>A (p.Ser2038Thr)
c.6181T>A (p.Ser2061Thr)
c.5809T>A (p.Ser1937Thr)
c.5965T>A (p.Ser1989Thr)
c.6172T>A (p.Ser2058Thr)
c.5473T>A (p.Ser1825Thr)
c.6220T>A (p.Ser2074Thr)
 dbSNP
16g.3728822C>ACA394553859CREBBPc.6225G>T (p.Lys2075Asn)
c.6111G>T (p.Lys2037Asn)
c.6180G>T (p.Lys2060Asn)
c.5808G>T (p.Lys1936Asn)
c.5964G>T (p.Lys1988Asn)
c.6171G>T (p.Lys2057Asn)
c.5472G>T (p.Lys1824Asn)
c.6219G>T (p.Lys2073Asn)
 dbSNP
16g.3728822C>GCA394553860CREBBPc.6225G>C (p.Lys2075Asn)
c.6111G>C (p.Lys2037Asn)
c.6180G>C (p.Lys2060Asn)
c.5808G>C (p.Lys1936Asn)
c.5964G>C (p.Lys1988Asn)
c.6171G>C (p.Lys2057Asn)
c.5472G>C (p.Lys1824Asn)
c.6219G>C (p.Lys2073Asn)
 dbSNP
16g.3728822C>TCA493393684CREBBPc.6225G>A (p.Lys2075=)
c.6111G>A (p.Lys2037=)
c.6180G>A (p.Lys2060=)
c.5808G>A (p.Lys1936=)
c.5964G>A (p.Lys1988=)
c.6171G>A (p.Lys2057=)
c.5472G>A (p.Lys1824=)
c.6219G>A (p.Lys2073=)
 dbSNP
16g.3728823T>ACA394553861CREBBPc.6224A>T (p.Lys2075Met)
c.6110A>T (p.Lys2037Met)
c.6179A>T (p.Lys2060Met)
c.5807A>T (p.Lys1936Met)
c.5963A>T (p.Lys1988Met)
c.6170A>T (p.Lys2057Met)
c.5471A>T (p.Lys1824Met)
c.6218A>T (p.Lys2073Met)
16g.3728823T>CCA394553862CREBBPc.6224A>G (p.Lys2075Arg)
c.6110A>G (p.Lys2037Arg)
c.6179A>G (p.Lys2060Arg)
c.5807A>G (p.Lys1936Arg)
c.5963A>G (p.Lys1988Arg)
c.6170A>G (p.Lys2057Arg)
c.5471A>G (p.Lys1824Arg)
c.6218A>G (p.Lys2073Arg)
16g.3728823T>GCA394553863CREBBPc.6224A>C (p.Lys2075Thr)
c.6110A>C (p.Lys2037Thr)
c.6179A>C (p.Lys2060Thr)
c.5807A>C (p.Lys1936Thr)
c.5963A>C (p.Lys1988Thr)
c.6170A>C (p.Lys2057Thr)
c.5471A>C (p.Lys1824Thr)
c.6218A>C (p.Lys2073Thr)
16g.3728823_3728824insACA2695222738CREBBPc.6223_6224insT (p.Lys2075IlefsTer?)
c.6109_6110insT (p.Lys2037IlefsTer?)
c.6178_6179insT (p.Lys2060IlefsTer?)
c.5806_5807insT (p.Lys1936IlefsTer?)
c.5962_5963insT (p.Lys1988IlefsTer?)
c.6169_6170insT (p.Lys2057IlefsTer?)
c.5470_5471insT (p.Lys1824IlefsTer?)
c.6217_6218insT (p.Lys2073IlefsTer?)
16g.3728824T>ACA394553864CREBBPc.6223A>T (p.Lys2075Ter)
c.6109A>T (p.Lys2037Ter)
c.6178A>T (p.Lys2060Ter)
c.5806A>T (p.Lys1936Ter)
c.5962A>T (p.Lys1988Ter)
c.6169A>T (p.Lys2057Ter)
c.5470A>T (p.Lys1824Ter)
c.6217A>T (p.Lys2073Ter)
 dbSNP
16g.3728824T>CCA394553865CREBBPc.6223A>G (p.Lys2075Glu)
c.6109A>G (p.Lys2037Glu)
c.6178A>G (p.Lys2060Glu)
c.5806A>G (p.Lys1936Glu)
c.5962A>G (p.Lys1988Glu)
c.6169A>G (p.Lys2057Glu)
c.5470A>G (p.Lys1824Glu)
c.6217A>G (p.Lys2073Glu)
 dbSNP
16g.3728824T>GCA394553866CREBBPc.6223A>C (p.Lys2075Gln)
c.6109A>C (p.Lys2037Gln)
c.6178A>C (p.Lys2060Gln)
c.5806A>C (p.Lys1936Gln)
c.5962A>C (p.Lys1988Gln)
c.6169A>C (p.Lys2057Gln)
c.5470A>C (p.Lys1824Gln)
c.6217A>C (p.Lys2073Gln)
 dbSNP
16g.3728825C>ACA493393685CREBBPc.6222G>T (p.Leu2074=)
c.6108G>T (p.Leu2036=)
c.6177G>T (p.Leu2059=)
c.5805G>T (p.Leu1935=)
c.5961G>T (p.Leu1987=)
c.6168G>T (p.Leu2056=)
c.5469G>T (p.Leu1823=)
c.6216G>T (p.Leu2072=)
 dbSNP
16g.3728825C>GCA493393686CREBBPc.6222G>C (p.Leu2074=)
c.6108G>C (p.Leu2036=)
c.6177G>C (p.Leu2059=)
c.5805G>C (p.Leu1935=)
c.5961G>C (p.Leu1987=)
c.6168G>C (p.Leu2056=)
c.5469G>C (p.Leu1823=)
c.6216G>C (p.Leu2072=)
 dbSNP
16g.3728825C>TCA493393687CREBBPc.6222G>A (p.Leu2074=)
c.6108G>A (p.Leu2036=)
c.6177G>A (p.Leu2059=)
c.5805G>A (p.Leu1935=)
c.5961G>A (p.Leu1987=)
c.6168G>A (p.Leu2056=)
c.5469G>A (p.Leu1823=)
c.6216G>A (p.Leu2072=)
 dbSNP
16g.3728826A>CCA394553869CREBBPc.6221T>G (p.Leu2074Arg)
c.6107T>G (p.Leu2036Arg)
c.6176T>G (p.Leu2059Arg)
c.5804T>G (p.Leu1935Arg)
c.5960T>G (p.Leu1987Arg)
c.6167T>G (p.Leu2056Arg)
c.5468T>G (p.Leu1823Arg)
c.6215T>G (p.Leu2072Arg)
 dbSNP
16g.3728826A>GCA394553868CREBBPc.6221T>C (p.Leu2074Pro)
c.6107T>C (p.Leu2036Pro)
c.6176T>C (p.Leu2059Pro)
c.5804T>C (p.Leu1935Pro)
c.5960T>C (p.Leu1987Pro)
c.6167T>C (p.Leu2056Pro)
c.5468T>C (p.Leu1823Pro)
c.6215T>C (p.Leu2072Pro)
 dbSNP gnomAD v4
16g.3728826A>TCA394553867CREBBPc.6221T>A (p.Leu2074Gln)
c.6107T>A (p.Leu2036Gln)
c.6176T>A (p.Leu2059Gln)
c.5804T>A (p.Leu1935Gln)
c.5960T>A (p.Leu1987Gln)
c.6167T>A (p.Leu2056Gln)
c.5468T>A (p.Leu1823Gln)
c.6215T>A (p.Leu2072Gln)
 dbSNP
16g.3728826_3728827delinsAGCA2202928864CREBBPc.6220_6221delinsCT (p.Leu2074=)
c.6106_6107delinsCT (p.Leu2036=)
c.6175_6176delinsCT (p.Leu2059=)
c.5803_5804delinsCT (p.Leu1935=)
c.5959_5960delinsCT (p.Leu1987=)
c.6166_6167delinsCT (p.Leu2056=)
c.5467_5468delinsCT (p.Leu1823=)
c.6214_6215delinsCT (p.Leu2072=)
16g.3728827G>ACA7869156CREBBPc.6220C>T (p.Leu2074=)
c.6106C>T (p.Leu2036=)
c.6175C>T (p.Leu2059=)
c.5803C>T (p.Leu1935=)
c.5959C>T (p.Leu1987=)
c.6166C>T (p.Leu2056=)
c.5467C>T (p.Leu1823=)
c.6214C>T (p.Leu2072=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728827G>CCA394553870CREBBPc.6220C>G (p.Leu2074Val)
c.6106C>G (p.Leu2036Val)
c.6175C>G (p.Leu2059Val)
c.5803C>G (p.Leu1935Val)
c.5959C>G (p.Leu1987Val)
c.6166C>G (p.Leu2056Val)
c.5467C>G (p.Leu1823Val)
c.6214C>G (p.Leu2072Val)
 dbSNP
16g.3728827G=CA2202928865CREBBPc.6220C= (p.Leu2074=)
c.6106C= (p.Leu2036=)
c.6175C= (p.Leu2059=)
c.5803C= (p.Leu1935=)
c.5959C= (p.Leu1987=)
c.6166C= (p.Leu2056=)
c.5467C= (p.Leu1823=)
c.6214C= (p.Leu2072=)
16g.3728827G>TCA394553871CREBBPc.6220C>A (p.Leu2074Met)
c.6106C>A (p.Leu2036Met)
c.6175C>A (p.Leu2059Met)
c.5803C>A (p.Leu1935Met)
c.5959C>A (p.Leu1987Met)
c.6166C>A (p.Leu2056Met)
c.5467C>A (p.Leu1823Met)
c.6214C>A (p.Leu2072Met)
 dbSNP gnomAD v4
16g.3728829delCA658798524CREBBPc.6220del (p.Leu2074Ter)
c.6106del (p.Leu2036Ter)
c.6175del (p.Leu2059Ter)
c.5803del (p.Leu1935Ter)
c.5959del (p.Leu1987Ter)
c.6166del (p.Leu2056Ter)
c.5467del (p.Leu1823Ter)
c.6214del (p.Leu2072Ter)
 ClinVar dbSNP
16g.3728828G>ACA493393689CREBBPc.6219C>T (p.Thr2073=)
c.6105C>T (p.Thr2035=)
c.6174C>T (p.Thr2058=)
c.5802C>T (p.Thr1934=)
c.5958C>T (p.Thr1986=)
c.6165C>T (p.Thr2055=)
c.5466C>T (p.Thr1822=)
c.6213C>T (p.Thr2071=)
 dbSNP
16g.3728828G>CCA493393690CREBBPc.6219C>G (p.Thr2073=)
c.6105C>G (p.Thr2035=)
c.6174C>G (p.Thr2058=)
c.5802C>G (p.Thr1934=)
c.5958C>G (p.Thr1986=)
c.6165C>G (p.Thr2055=)
c.5466C>G (p.Thr1822=)
c.6213C>G (p.Thr2071=)
 dbSNP
16g.3728828G>TCA493393691CREBBPc.6219C>A (p.Thr2073=)
c.6105C>A (p.Thr2035=)
c.6174C>A (p.Thr2058=)
c.5802C>A (p.Thr1934=)
c.5958C>A (p.Thr1986=)
c.6165C>A (p.Thr2055=)
c.5466C>A (p.Thr1822=)
c.6213C>A (p.Thr2071=)
 gnomAD v4
16g.3728829G>ACA394553872CREBBPc.6218C>T (p.Thr2073Ile)
c.6104C>T (p.Thr2035Ile)
c.6173C>T (p.Thr2058Ile)
c.5801C>T (p.Thr1934Ile)
c.5957C>T (p.Thr1986Ile)
c.6164C>T (p.Thr2055Ile)
c.5465C>T (p.Thr1822Ile)
c.6212C>T (p.Thr2071Ile)
 dbSNP gnomAD v4
16g.3728829G>CCA394553873CREBBPc.6218C>G (p.Thr2073Ser)
c.6104C>G (p.Thr2035Ser)
c.6173C>G (p.Thr2058Ser)
c.5801C>G (p.Thr1934Ser)
c.5957C>G (p.Thr1986Ser)
c.6164C>G (p.Thr2055Ser)
c.5465C>G (p.Thr1822Ser)
c.6212C>G (p.Thr2071Ser)
 dbSNP
16g.3728829G>TCA394553874CREBBPc.6218C>A (p.Thr2073Asn)
c.6104C>A (p.Thr2035Asn)
c.6173C>A (p.Thr2058Asn)
c.5801C>A (p.Thr1934Asn)
c.5957C>A (p.Thr1986Asn)
c.6164C>A (p.Thr2055Asn)
c.5465C>A (p.Thr1822Asn)
c.6212C>A (p.Thr2071Asn)
16g.3728830T>ACA394553875CREBBPc.6217A>T (p.Thr2073Ser)
c.6103A>T (p.Thr2035Ser)
c.6172A>T (p.Thr2058Ser)
c.5800A>T (p.Thr1934Ser)
c.5956A>T (p.Thr1986Ser)
c.6163A>T (p.Thr2055Ser)
c.5464A>T (p.Thr1822Ser)
c.6211A>T (p.Thr2071Ser)
16g.3728830T>CCA394553876CREBBPc.6217A>G (p.Thr2073Ala)
c.6103A>G (p.Thr2035Ala)
c.6172A>G (p.Thr2058Ala)
c.5800A>G (p.Thr1934Ala)
c.5956A>G (p.Thr1986Ala)
c.6163A>G (p.Thr2055Ala)
c.5464A>G (p.Thr1822Ala)
c.6211A>G (p.Thr2071Ala)
16g.3728830T>GCA394553877CREBBPc.6217A>C (p.Thr2073Pro)
c.6103A>C (p.Thr2035Pro)
c.6172A>C (p.Thr2058Pro)
c.5800A>C (p.Thr1934Pro)
c.5956A>C (p.Thr1986Pro)
c.6163A>C (p.Thr2055Pro)
c.5464A>C (p.Thr1822Pro)
c.6211A>C (p.Thr2071Pro)
 dbSNP
16g.3728831C>ACA493393695CREBBPc.6216G>T (p.Arg2072=)
c.6102G>T (p.Arg2034=)
c.6171G>T (p.Arg2057=)
c.5799G>T (p.Arg1933=)
c.5955G>T (p.Arg1985=)
c.6162G>T (p.Arg2054=)
c.5463G>T (p.Arg1821=)
c.6210G>T (p.Arg2070=)
 dbSNP
16g.3728831C=CA2202928866CREBBPc.6216G= (p.Arg2072=)
c.6102G= (p.Arg2034=)
c.6171G= (p.Arg2057=)
c.5799G= (p.Arg1933=)
c.5955G= (p.Arg1985=)
c.6162G= (p.Arg2054=)
c.5463G= (p.Arg1821=)
c.6210G= (p.Arg2070=)
16g.3728831C>GCA493393696CREBBPc.6216G>C (p.Arg2072=)
c.6102G>C (p.Arg2034=)
c.6171G>C (p.Arg2057=)
c.5799G>C (p.Arg1933=)
c.5955G>C (p.Arg1985=)
c.6162G>C (p.Arg2054=)
c.5463G>C (p.Arg1821=)
c.6210G>C (p.Arg2070=)
 dbSNP
16g.3728831C>TCA7869157CREBBPc.6216G>A (p.Arg2072=)
c.6102G>A (p.Arg2034=)
c.6171G>A (p.Arg2057=)
c.5799G>A (p.Arg1933=)
c.5955G>A (p.Arg1985=)
c.6162G>A (p.Arg2054=)
c.5463G>A (p.Arg1821=)
c.6210G>A (p.Arg2070=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728832C>ACA394553878CREBBPc.6215G>T (p.Arg2072Leu)
c.6101G>T (p.Arg2034Leu)
c.6170G>T (p.Arg2057Leu)
c.5798G>T (p.Arg1933Leu)
c.5954G>T (p.Arg1985Leu)
c.6161G>T (p.Arg2054Leu)
c.5462G>T (p.Arg1821Leu)
c.6209G>T (p.Arg2070Leu)
16g.3728832C=CA2202928867CREBBPc.6215G= (p.Arg2072=)
c.6101G= (p.Arg2034=)
c.6170G= (p.Arg2057=)
c.5798G= (p.Arg1933=)
c.5954G= (p.Arg1985=)
c.6161G= (p.Arg2054=)
c.5462G= (p.Arg1821=)
c.6209G= (p.Arg2070=)
16g.3728832C>GCA394553879CREBBPc.6215G>C (p.Arg2072Pro)
c.6101G>C (p.Arg2034Pro)
c.6170G>C (p.Arg2057Pro)
c.5798G>C (p.Arg1933Pro)
c.5954G>C (p.Arg1985Pro)
c.6161G>C (p.Arg2054Pro)
c.5462G>C (p.Arg1821Pro)
c.6209G>C (p.Arg2070Pro)
16g.3728832C>TCA394553880CREBBPc.6215G>A (p.Arg2072Gln)
c.6101G>A (p.Arg2034Gln)
c.6170G>A (p.Arg2057Gln)
c.5798G>A (p.Arg1933Gln)
c.5954G>A (p.Arg1985Gln)
c.6161G>A (p.Arg2054Gln)
c.5462G>A (p.Arg1821Gln)
c.6209G>A (p.Arg2070Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728833G>ACA394553881CREBBPc.6214C>T (p.Arg2072Trp)
c.6100C>T (p.Arg2034Trp)
c.6169C>T (p.Arg2057Trp)
c.5797C>T (p.Arg1933Trp)
c.5953C>T (p.Arg1985Trp)
c.6160C>T (p.Arg2054Trp)
c.5461C>T (p.Arg1821Trp)
c.6208C>T (p.Arg2070Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728833G>CCA394553882CREBBPc.6214C>G (p.Arg2072Gly)
c.6100C>G (p.Arg2034Gly)
c.6169C>G (p.Arg2057Gly)
c.5797C>G (p.Arg1933Gly)
c.5953C>G (p.Arg1985Gly)
c.6160C>G (p.Arg2054Gly)
c.5461C>G (p.Arg1821Gly)
c.6208C>G (p.Arg2070Gly)
 dbSNP
16g.3728833G=CA2202928868CREBBPc.6214C= (p.Arg2072=)
c.6100C= (p.Arg2034=)
c.6169C= (p.Arg2057=)
c.5797C= (p.Arg1933=)
c.5953C= (p.Arg1985=)
c.6160C= (p.Arg2054=)
c.5461C= (p.Arg1821=)
c.6208C= (p.Arg2070=)
16g.3728833G>TCA493393700CREBBPc.6214C>A (p.Arg2072=)
c.6100C>A (p.Arg2034=)
c.6169C>A (p.Arg2057=)
c.5797C>A (p.Arg1933=)
c.5953C>A (p.Arg1985=)
c.6160C>A (p.Arg2054=)
c.5461C>A (p.Arg1821=)
c.6208C>A (p.Arg2070=)
16g.3728834C>ACA493393701CREBBPc.6213G>T (p.Leu2071=)
c.6099G>T (p.Leu2033=)
c.6168G>T (p.Leu2056=)
c.5796G>T (p.Leu1932=)
c.5952G>T (p.Leu1984=)
c.6159G>T (p.Leu2053=)
c.5460G>T (p.Leu1820=)
c.6207G>T (p.Leu2069=)
16g.3728834C=CA2202928869CREBBPc.6213G= (p.Leu2071=)
c.6099G= (p.Leu2033=)
c.6168G= (p.Leu2056=)
c.5796G= (p.Leu1932=)
c.5952G= (p.Leu1984=)
c.6159G= (p.Leu2053=)
c.5460G= (p.Leu1820=)
c.6207G= (p.Leu2069=)
16g.3728834C>GCA493393702CREBBPc.6213G>C (p.Leu2071=)
c.6099G>C (p.Leu2033=)
c.6168G>C (p.Leu2056=)
c.5796G>C (p.Leu1932=)
c.5952G>C (p.Leu1984=)
c.6159G>C (p.Leu2053=)
c.5460G>C (p.Leu1820=)
c.6207G>C (p.Leu2069=)
 dbSNP
16g.3728834C>TCA7869158CREBBPc.6213G>A (p.Leu2071=)
c.6099G>A (p.Leu2033=)
c.6168G>A (p.Leu2056=)
c.5796G>A (p.Leu1932=)
c.5952G>A (p.Leu1984=)
c.6159G>A (p.Leu2053=)
c.5460G>A (p.Leu1820=)
c.6207G>A (p.Leu2069=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728835A>CCA394553883CREBBPc.6212T>G (p.Leu2071Arg)
c.6098T>G (p.Leu2033Arg)
c.6167T>G (p.Leu2056Arg)
c.5795T>G (p.Leu1932Arg)
c.5951T>G (p.Leu1984Arg)
c.6158T>G (p.Leu2053Arg)
c.5459T>G (p.Leu1820Arg)
c.6206T>G (p.Leu2069Arg)
16g.3728835A>GCA394553884CREBBPc.6212T>C (p.Leu2071Pro)
c.6098T>C (p.Leu2033Pro)
c.6167T>C (p.Leu2056Pro)
c.5795T>C (p.Leu1932Pro)
c.5951T>C (p.Leu1984Pro)
c.6158T>C (p.Leu2053Pro)
c.5459T>C (p.Leu1820Pro)
c.6206T>C (p.Leu2069Pro)
16g.3728835A>TCA394553885CREBBPc.6212T>A (p.Leu2071Gln)
c.6098T>A (p.Leu2033Gln)
c.6167T>A (p.Leu2056Gln)
c.5795T>A (p.Leu1932Gln)
c.5951T>A (p.Leu1984Gln)
c.6158T>A (p.Leu2053Gln)
c.5459T>A (p.Leu1820Gln)
c.6206T>A (p.Leu2069Gln)
 dbSNP gnomAD v4
16g.3728836G>ACA493393703CREBBPc.6211C>T (p.Leu2071=)
c.6097C>T (p.Leu2033=)
c.6166C>T (p.Leu2056=)
c.5794C>T (p.Leu1932=)
c.5950C>T (p.Leu1984=)
c.6157C>T (p.Leu2053=)
c.5458C>T (p.Leu1820=)
c.6205C>T (p.Leu2069=)
 dbSNP gnomAD v4
16g.3728836G>CCA394553886CREBBPc.6211C>G (p.Leu2071Val)
c.6097C>G (p.Leu2033Val)
c.6166C>G (p.Leu2056Val)
c.5794C>G (p.Leu1932Val)
c.5950C>G (p.Leu1984Val)
c.6157C>G (p.Leu2053Val)
c.5458C>G (p.Leu1820Val)
c.6205C>G (p.Leu2069Val)
 dbSNP
16g.3728836G=CA2202928870CREBBPc.6211C= (p.Leu2071=)
c.6097C= (p.Leu2033=)
c.6166C= (p.Leu2056=)
c.5794C= (p.Leu1932=)
c.5950C= (p.Leu1984=)
c.6157C= (p.Leu2053=)
c.5458C= (p.Leu1820=)
c.6205C= (p.Leu2069=)
16g.3728836G>TCA7869159CREBBPc.6211C>A (p.Leu2071Met)
c.6097C>A (p.Leu2033Met)
c.6166C>A (p.Leu2056Met)
c.5794C>A (p.Leu1932Met)
c.5950C>A (p.Leu1984Met)
c.6157C>A (p.Leu2053Met)
c.5458C>A (p.Leu1820Met)
c.6205C>A (p.Leu2069Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728837C>ACA493393705CREBBPc.6210G>T (p.Leu2070=)
c.6096G>T (p.Leu2032=)
c.6165G>T (p.Leu2055=)
c.5793G>T (p.Leu1931=)
c.5949G>T (p.Leu1983=)
c.6156G>T (p.Leu2052=)
c.5457G>T (p.Leu1819=)
c.6204G>T (p.Leu2068=)
16g.3728837C>GCA493393706CREBBPc.6210G>C (p.Leu2070=)
c.6096G>C (p.Leu2032=)
c.6165G>C (p.Leu2055=)
c.5793G>C (p.Leu1931=)
c.5949G>C (p.Leu1983=)
c.6156G>C (p.Leu2052=)
c.5457G>C (p.Leu1819=)
c.6204G>C (p.Leu2068=)
16g.3728837C>TCA493393707CREBBPc.6210G>A (p.Leu2070=)
c.6096G>A (p.Leu2032=)
c.6165G>A (p.Leu2055=)
c.5793G>A (p.Leu1931=)
c.5949G>A (p.Leu1983=)
c.6156G>A (p.Leu2052=)
c.5457G>A (p.Leu1819=)
c.6204G>A (p.Leu2068=)
 dbSNP gnomAD v4
16g.3728838A>CCA394553887CREBBPc.6209T>G (p.Leu2070Arg)
c.6095T>G (p.Leu2032Arg)
c.6164T>G (p.Leu2055Arg)
c.5792T>G (p.Leu1931Arg)
c.5948T>G (p.Leu1983Arg)
c.6155T>G (p.Leu2052Arg)
c.5456T>G (p.Leu1819Arg)
c.6203T>G (p.Leu2068Arg)
16g.3728838A>GCA394553888CREBBPc.6209T>C (p.Leu2070Pro)
c.6095T>C (p.Leu2032Pro)
c.6164T>C (p.Leu2055Pro)
c.5792T>C (p.Leu1931Pro)
c.5948T>C (p.Leu1983Pro)
c.6155T>C (p.Leu2052Pro)
c.5456T>C (p.Leu1819Pro)
c.6203T>C (p.Leu2068Pro)
 dbSNP
16g.3728838A>TCA394553889CREBBPc.6209T>A (p.Leu2070Gln)
c.6095T>A (p.Leu2032Gln)
c.6164T>A (p.Leu2055Gln)
c.5792T>A (p.Leu1931Gln)
c.5948T>A (p.Leu1983Gln)
c.6155T>A (p.Leu2052Gln)
c.5456T>A (p.Leu1819Gln)
c.6203T>A (p.Leu2068Gln)
 dbSNP
16g.3728839G>ACA493393708CREBBPc.6208C>T (p.Leu2070=)
c.6094C>T (p.Leu2032=)
c.6163C>T (p.Leu2055=)
c.5791C>T (p.Leu1931=)
c.5947C>T (p.Leu1983=)
c.6154C>T (p.Leu2052=)
c.5455C>T (p.Leu1819=)
c.6202C>T (p.Leu2068=)
 dbSNP gnomAD v4
16g.3728839G>CCA394553890CREBBPc.6208C>G (p.Leu2070Val)
c.6094C>G (p.Leu2032Val)
c.6163C>G (p.Leu2055Val)
c.5791C>G (p.Leu1931Val)
c.5947C>G (p.Leu1983Val)
c.6154C>G (p.Leu2052Val)
c.5455C>G (p.Leu1819Val)
c.6202C>G (p.Leu2068Val)
 dbSNP
16g.3728839G=CA2202928871CREBBPc.6208C= (p.Leu2070=)
c.6094C= (p.Leu2032=)
c.6163C= (p.Leu2055=)
c.5791C= (p.Leu1931=)
c.5947C= (p.Leu1983=)
c.6154C= (p.Leu2052=)
c.5455C= (p.Leu1819=)
c.6202C= (p.Leu2068=)
16g.3728839G>TCA394553891CREBBPc.6208C>A (p.Leu2070Met)
c.6094C>A (p.Leu2032Met)
c.6163C>A (p.Leu2055Met)
c.5791C>A (p.Leu1931Met)
c.5947C>A (p.Leu1983Met)
c.6154C>A (p.Leu2052Met)
c.5455C>A (p.Leu1819Met)
c.6202C>A (p.Leu2068Met)
16g.3728840G>ACA7869160CREBBPc.6207C>T (p.Asp2069=)
c.6093C>T (p.Asp2031=)
c.6162C>T (p.Asp2054=)
c.5790C>T (p.Asp1930=)
c.5946C>T (p.Asp1982=)
c.6153C>T (p.Asp2051=)
c.5454C>T (p.Asp1818=)
c.6201C>T (p.Asp2067=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728840G>CCA394553893CREBBPc.6207C>G (p.Asp2069Glu)
c.6093C>G (p.Asp2031Glu)
c.6162C>G (p.Asp2054Glu)
c.5790C>G (p.Asp1930Glu)
c.5946C>G (p.Asp1982Glu)
c.6153C>G (p.Asp2051Glu)
c.5454C>G (p.Asp1818Glu)
c.6201C>G (p.Asp2067Glu)
16g.3728840G=CA2202928872CREBBPc.6207C= (p.Asp2069=)
c.6093C= (p.Asp2031=)
c.6162C= (p.Asp2054=)
c.5790C= (p.Asp1930=)
c.5946C= (p.Asp1982=)
c.6153C= (p.Asp2051=)
c.5454C= (p.Asp1818=)
c.6201C= (p.Asp2067=)
16g.3728840G>TCA394553892CREBBPc.6207C>A (p.Asp2069Glu)
c.6093C>A (p.Asp2031Glu)
c.6162C>A (p.Asp2054Glu)
c.5790C>A (p.Asp1930Glu)
c.5946C>A (p.Asp1982Glu)
c.6153C>A (p.Asp2051Glu)
c.5454C>A (p.Asp1818Glu)
c.6201C>A (p.Asp2067Glu)
16g.3728841T>ACA394553894CREBBPc.6206A>T (p.Asp2069Val)
c.6092A>T (p.Asp2031Val)
c.6161A>T (p.Asp2054Val)
c.5789A>T (p.Asp1930Val)
c.5945A>T (p.Asp1982Val)
c.6152A>T (p.Asp2051Val)
c.5453A>T (p.Asp1818Val)
c.6200A>T (p.Asp2067Val)
 dbSNP
16g.3728841T>CCA394553896CREBBPc.6206A>G (p.Asp2069Gly)
c.6092A>G (p.Asp2031Gly)
c.6161A>G (p.Asp2054Gly)
c.5789A>G (p.Asp1930Gly)
c.5945A>G (p.Asp1982Gly)
c.6152A>G (p.Asp2051Gly)
c.5453A>G (p.Asp1818Gly)
c.6200A>G (p.Asp2067Gly)
 dbSNP
16g.3728841T>GCA394553895CREBBPc.6206A>C (p.Asp2069Ala)
c.6092A>C (p.Asp2031Ala)
c.6161A>C (p.Asp2054Ala)
c.5789A>C (p.Asp1930Ala)
c.5945A>C (p.Asp1982Ala)
c.6152A>C (p.Asp2051Ala)
c.5453A>C (p.Asp1818Ala)
c.6200A>C (p.Asp2067Ala)
 dbSNP
16g.3728842C>ACA394553897CREBBPc.6205G>T (p.Asp2069Tyr)
c.6091G>T (p.Asp2031Tyr)
c.6160G>T (p.Asp2054Tyr)
c.5788G>T (p.Asp1930Tyr)
c.5944G>T (p.Asp1982Tyr)
c.6151G>T (p.Asp2051Tyr)
c.5452G>T (p.Asp1818Tyr)
c.6199G>T (p.Asp2067Tyr)
16g.3728842C>GCA394553898CREBBPc.6205G>C (p.Asp2069His)
c.6091G>C (p.Asp2031His)
c.6160G>C (p.Asp2054His)
c.5788G>C (p.Asp1930His)
c.5944G>C (p.Asp1982His)
c.6151G>C (p.Asp2051His)
c.5452G>C (p.Asp1818His)
c.6199G>C (p.Asp2067His)
16g.3728842C>TCA394553899CREBBPc.6205G>A (p.Asp2069Asn)
c.6091G>A (p.Asp2031Asn)
c.6160G>A (p.Asp2054Asn)
c.5788G>A (p.Asp1930Asn)
c.5944G>A (p.Asp1982Asn)
c.6151G>A (p.Asp2051Asn)
c.5452G>A (p.Asp1818Asn)
c.6199G>A (p.Asp2067Asn)
 gnomAD v4
16g.3728843T>ACA394553900CREBBPc.6204A>T (p.Gln2068His)
c.6090A>T (p.Gln2030His)
c.6159A>T (p.Gln2053His)
c.5787A>T (p.Gln1929His)
c.5943A>T (p.Gln1981His)
c.6150A>T (p.Gln2050His)
c.5451A>T (p.Gln1817His)
c.6198A>T (p.Gln2066His)
 dbSNP
16g.3728843T>CCA493393710CREBBPc.6204A>G (p.Gln2068=)
c.6090A>G (p.Gln2030=)
c.6159A>G (p.Gln2053=)
c.5787A>G (p.Gln1929=)
c.5943A>G (p.Gln1981=)
c.6150A>G (p.Gln2050=)
c.5451A>G (p.Gln1817=)
c.6198A>G (p.Gln2066=)
 dbSNP gnomAD v4
16g.3728843T>GCA394553901CREBBPc.6204A>C (p.Gln2068His)
c.6090A>C (p.Gln2030His)
c.6159A>C (p.Gln2053His)
c.5787A>C (p.Gln1929His)
c.5943A>C (p.Gln1981His)
c.6150A>C (p.Gln2050His)
c.5451A>C (p.Gln1817His)
c.6198A>C (p.Gln2066His)
16g.3728844T>ACA394553902CREBBPc.6203A>T (p.Gln2068Leu)
c.6089A>T (p.Gln2030Leu)
c.6158A>T (p.Gln2053Leu)
c.5786A>T (p.Gln1929Leu)
c.5942A>T (p.Gln1981Leu)
c.6149A>T (p.Gln2050Leu)
c.5450A>T (p.Gln1817Leu)
c.6197A>T (p.Gln2066Leu)
 dbSNP
16g.3728844T>CCA394553903CREBBPc.6203A>G (p.Gln2068Arg)
c.6089A>G (p.Gln2030Arg)
c.6158A>G (p.Gln2053Arg)
c.5786A>G (p.Gln1929Arg)
c.5942A>G (p.Gln1981Arg)
c.6149A>G (p.Gln2050Arg)
c.5450A>G (p.Gln1817Arg)
c.6197A>G (p.Gln2066Arg)
16g.3728844T>GCA394553904CREBBPc.6203A>C (p.Gln2068Pro)
c.6089A>C (p.Gln2030Pro)
c.6158A>C (p.Gln2053Pro)
c.5786A>C (p.Gln1929Pro)
c.5942A>C (p.Gln1981Pro)
c.6149A>C (p.Gln2050Pro)
c.5450A>C (p.Gln1817Pro)
c.6197A>C (p.Gln2066Pro)
 dbSNP
16g.3728845G>ACA394553905CREBBPc.6202C>T (p.Gln2068Ter)
c.6088C>T (p.Gln2030Ter)
c.6157C>T (p.Gln2053Ter)
c.5785C>T (p.Gln1929Ter)
c.5941C>T (p.Gln1981Ter)
c.6148C>T (p.Gln2050Ter)
c.5449C>T (p.Gln1817Ter)
c.6196C>T (p.Gln2066Ter)
 dbSNP
16g.3728845G>CCA394553906CREBBPc.6202C>G (p.Gln2068Glu)
c.6088C>G (p.Gln2030Glu)
c.6157C>G (p.Gln2053Glu)
c.5785C>G (p.Gln1929Glu)
c.5941C>G (p.Gln1981Glu)
c.6148C>G (p.Gln2050Glu)
c.5449C>G (p.Gln1817Glu)
c.6196C>G (p.Gln2066Glu)
 dbSNP
16g.3728845G>TCA394553907CREBBPc.6202C>A (p.Gln2068Lys)
c.6088C>A (p.Gln2030Lys)
c.6157C>A (p.Gln2053Lys)
c.5785C>A (p.Gln1929Lys)
c.5941C>A (p.Gln1981Lys)
c.6148C>A (p.Gln2050Lys)
c.5449C>A (p.Gln1817Lys)
c.6196C>A (p.Gln2066Lys)
 dbSNP gnomAD v4

Number of alleles fetched