Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3728968_3729007delCA2631403143CREBBPc.6047_6086del (p.Met2016SerfsTer11)
c.5933_5972del (p.Met1978SerfsTer11)
c.6002_6041del (p.Met2001SerfsTer11)
c.5630_5669del (p.Met1877SerfsTer11)
c.5786_5825del (p.Met1929SerfsTer11)
c.5993_6032del (p.Met1998SerfsTer11)
c.5294_5333del (p.Met1765SerfsTer11)
c.6041_6080del (p.Met2014SerfsTer11)
gnomAD v4
16g.3728979_3728985delCA2695222618CREBBPc.6065_6071del (p.Gln2022ArgfsTer16)
c.5951_5957del (p.Gln1984ArgfsTer16)
c.6020_6026del (p.Gln2007ArgfsTer16)
c.5648_5654del (p.Gln1883ArgfsTer16)
c.5804_5810del (p.Gln1935ArgfsTer16)
c.6011_6017del (p.Gln2004ArgfsTer16)
c.5312_5318del (p.Gln1771ArgfsTer16)
c.6059_6065del (p.Gln2020ArgfsTer16)
16g.3728984C>ACA394554391CREBBPc.6063G>T (p.Trp2021Cys)
c.5949G>T (p.Trp1983Cys)
c.6018G>T (p.Trp2006Cys)
c.5646G>T (p.Trp1882Cys)
c.5802G>T (p.Trp1934Cys)
c.6009G>T (p.Trp2003Cys)
c.5310G>T (p.Trp1770Cys)
c.6057G>T (p.Trp2019Cys)
gnomAD v4
16g.3728984C>GCA394554392CREBBPc.6063G>C (p.Trp2021Cys)
c.5949G>C (p.Trp1983Cys)
c.6018G>C (p.Trp2006Cys)
c.5646G>C (p.Trp1882Cys)
c.5802G>C (p.Trp1934Cys)
c.6009G>C (p.Trp2003Cys)
c.5310G>C (p.Trp1770Cys)
c.6057G>C (p.Trp2019Cys)
16g.3728984C>TCA394554393CREBBPc.6063G>A (p.Trp2021Ter)
c.5949G>A (p.Trp1983Ter)
c.6018G>A (p.Trp2006Ter)
c.5646G>A (p.Trp1882Ter)
c.5802G>A (p.Trp1934Ter)
c.6009G>A (p.Trp2003Ter)
c.5310G>A (p.Trp1770Ter)
c.6057G>A (p.Trp2019Ter)
gnomAD v4
16g.3728985C>ACA394554396CREBBPc.6062G>T (p.Trp2021Leu)
c.5948G>T (p.Trp1983Leu)
c.6017G>T (p.Trp2006Leu)
c.5645G>T (p.Trp1882Leu)
c.5801G>T (p.Trp1934Leu)
c.6008G>T (p.Trp2003Leu)
c.5309G>T (p.Trp1770Leu)
c.6056G>T (p.Trp2019Leu)
gnomAD v4
16g.3728985C=CA2202916146CREBBPc.6062G= (p.Trp2021=)
c.5948G= (p.Trp1983=)
c.6017G= (p.Trp2006=)
c.5645G= (p.Trp1882=)
c.5801G= (p.Trp1934=)
c.6008G= (p.Trp2003=)
c.5309G= (p.Trp1770=)
c.6056G= (p.Trp2019=)
16g.3728985C>GCA394554397CREBBPc.6062G>C (p.Trp2021Ser)
c.5948G>C (p.Trp1983Ser)
c.6017G>C (p.Trp2006Ser)
c.5645G>C (p.Trp1882Ser)
c.5801G>C (p.Trp1934Ser)
c.6008G>C (p.Trp2003Ser)
c.5309G>C (p.Trp1770Ser)
c.6056G>C (p.Trp2019Ser)
dbSNP
16g.3728985C>TCA394554399CREBBPc.6062G>A (p.Trp2021Ter)
c.5948G>A (p.Trp1983Ter)
c.6017G>A (p.Trp2006Ter)
c.5645G>A (p.Trp1882Ter)
c.5801G>A (p.Trp1934Ter)
c.6008G>A (p.Trp2003Ter)
c.5309G>A (p.Trp1770Ter)
c.6056G>A (p.Trp2019Ter)
dbSNP gnomAD v2 gnomAD v4
16g.3728986A>CCA394554405CREBBPc.6061T>G (p.Trp2021Gly)
c.5947T>G (p.Trp1983Gly)
c.6016T>G (p.Trp2006Gly)
c.5644T>G (p.Trp1882Gly)
c.5800T>G (p.Trp1934Gly)
c.6007T>G (p.Trp2003Gly)
c.5308T>G (p.Trp1770Gly)
c.6055T>G (p.Trp2019Gly)
dbSNP
16g.3728986A>GCA394554403CREBBPc.6061T>C (p.Trp2021Arg)
c.5947T>C (p.Trp1983Arg)
c.6016T>C (p.Trp2006Arg)
c.5644T>C (p.Trp1882Arg)
c.5800T>C (p.Trp1934Arg)
c.6007T>C (p.Trp2003Arg)
c.5308T>C (p.Trp1770Arg)
c.6055T>C (p.Trp2019Arg)
dbSNP
16g.3728986A>TCA394554402CREBBPc.6061T>A (p.Trp2021Arg)
c.5947T>A (p.Trp1983Arg)
c.6016T>A (p.Trp2006Arg)
c.5644T>A (p.Trp1882Arg)
c.5800T>A (p.Trp1934Arg)
c.6007T>A (p.Trp2003Arg)
c.5308T>A (p.Trp1770Arg)
c.6055T>A (p.Trp2019Arg)
dbSNP
16g.3728987C>ACA394554409CREBBPc.6060G>T (p.Gln2020His)
c.5946G>T (p.Gln1982His)
c.6015G>T (p.Gln2005His)
c.5643G>T (p.Gln1881His)
c.5799G>T (p.Gln1933His)
c.6006G>T (p.Gln2002His)
c.5307G>T (p.Gln1769His)
c.6054G>T (p.Gln2018His)
dbSNP
16g.3728987C=CA2202916147CREBBPc.6060G= (p.Gln2020=)
c.5946G= (p.Gln1982=)
c.6015G= (p.Gln2005=)
c.5643G= (p.Gln1881=)
c.5799G= (p.Gln1933=)
c.6006G= (p.Gln2002=)
c.5307G= (p.Gln1769=)
c.6054G= (p.Gln2018=)
16g.3728987C>GCA394554407CREBBPc.6060G>C (p.Gln2020His)
c.5946G>C (p.Gln1982His)
c.6015G>C (p.Gln2005His)
c.5643G>C (p.Gln1881His)
c.5799G>C (p.Gln1933His)
c.6006G>C (p.Gln2002His)
c.5307G>C (p.Gln1769His)
c.6054G>C (p.Gln2018His)
dbSNP gnomAD v4
16g.3728987C>TCA493393919CREBBPc.6060G>A (p.Gln2020=)
c.5946G>A (p.Gln1982=)
c.6015G>A (p.Gln2005=)
c.5643G>A (p.Gln1881=)
c.5799G>A (p.Gln1933=)
c.6006G>A (p.Gln2002=)
c.5307G>A (p.Gln1769=)
c.6054G>A (p.Gln2018=)
dbSNP
16g.3728988T>ACA394554412CREBBPc.6059A>T (p.Gln2020Leu)
c.5945A>T (p.Gln1982Leu)
c.6014A>T (p.Gln2005Leu)
c.5642A>T (p.Gln1881Leu)
c.5798A>T (p.Gln1933Leu)
c.6005A>T (p.Gln2002Leu)
c.5306A>T (p.Gln1769Leu)
c.6053A>T (p.Gln2018Leu)
dbSNP
16g.3728988T>CCA394554414CREBBPc.6059A>G (p.Gln2020Arg)
c.5945A>G (p.Gln1982Arg)
c.6014A>G (p.Gln2005Arg)
c.5642A>G (p.Gln1881Arg)
c.5798A>G (p.Gln1933Arg)
c.6005A>G (p.Gln2002Arg)
c.5306A>G (p.Gln1769Arg)
c.6053A>G (p.Gln2018Arg)
dbSNP
16g.3728988T>GCA394554415CREBBPc.6059A>C (p.Gln2020Pro)
c.5945A>C (p.Gln1982Pro)
c.6014A>C (p.Gln2005Pro)
c.5642A>C (p.Gln1881Pro)
c.5798A>C (p.Gln1933Pro)
c.6005A>C (p.Gln2002Pro)
c.5306A>C (p.Gln1769Pro)
c.6053A>C (p.Gln2018Pro)
gnomAD v4
16g.3728989G>ACA394554416CREBBPc.6058C>T (p.Gln2020Ter)
c.5944C>T (p.Gln1982Ter)
c.6013C>T (p.Gln2005Ter)
c.5641C>T (p.Gln1881Ter)
c.5797C>T (p.Gln1933Ter)
c.6004C>T (p.Gln2002Ter)
c.5305C>T (p.Gln1769Ter)
c.6052C>T (p.Gln2018Ter)
dbSNP gnomAD v2 gnomAD v4
16g.3728989G>CCA394554417CREBBPc.6058C>G (p.Gln2020Glu)
c.5944C>G (p.Gln1982Glu)
c.6013C>G (p.Gln2005Glu)
c.5641C>G (p.Gln1881Glu)
c.5797C>G (p.Gln1933Glu)
c.6004C>G (p.Gln2002Glu)
c.5305C>G (p.Gln1769Glu)
c.6052C>G (p.Gln2018Glu)
16g.3728989G=CA2202916148CREBBPc.6058C= (p.Gln2020=)
c.5944C= (p.Gln1982=)
c.6013C= (p.Gln2005=)
c.5641C= (p.Gln1881=)
c.5797C= (p.Gln1933=)
c.6004C= (p.Gln2002=)
c.5305C= (p.Gln1769=)
c.6052C= (p.Gln2018=)
16g.3728989G>TCA394554419CREBBPc.6058C>A (p.Gln2020Lys)
c.5944C>A (p.Gln1982Lys)
c.6013C>A (p.Gln2005Lys)
c.5641C>A (p.Gln1881Lys)
c.5797C>A (p.Gln1933Lys)
c.6004C>A (p.Gln2002Lys)
c.5305C>A (p.Gln1769Lys)
c.6052C>A (p.Gln2018Lys)
gnomAD v4
16g.3728990C>ACA493393924CREBBPc.6057G>T (p.Gly2019=)
c.5943G>T (p.Gly1981=)
c.6012G>T (p.Gly2004=)
c.5640G>T (p.Gly1880=)
c.5796G>T (p.Gly1932=)
c.6003G>T (p.Gly2001=)
c.5304G>T (p.Gly1768=)
c.6051G>T (p.Gly2017=)
dbSNP gnomAD v4
16g.3728990C>GCA493393926CREBBPc.6057G>C (p.Gly2019=)
c.5943G>C (p.Gly1981=)
c.6012G>C (p.Gly2004=)
c.5640G>C (p.Gly1880=)
c.5796G>C (p.Gly1932=)
c.6003G>C (p.Gly2001=)
c.5304G>C (p.Gly1768=)
c.6051G>C (p.Gly2017=)
dbSNP
16g.3728990C>TCA493393928CREBBPc.6057G>A (p.Gly2019=)
c.5943G>A (p.Gly1981=)
c.6012G>A (p.Gly2004=)
c.5640G>A (p.Gly1880=)
c.5796G>A (p.Gly1932=)
c.6003G>A (p.Gly2001=)
c.5304G>A (p.Gly1768=)
c.6051G>A (p.Gly2017=)
dbSNP gnomAD v4
16g.3728991C>ACA7869188CREBBPc.6056G>T (p.Gly2019Val)
c.5942G>T (p.Gly1981Val)
c.6011G>T (p.Gly2004Val)
c.5639G>T (p.Gly1880Val)
c.5795G>T (p.Gly1932Val)
c.6002G>T (p.Gly2001Val)
c.5303G>T (p.Gly1768Val)
c.6050G>T (p.Gly2017Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728991C=CA2202916149CREBBPc.6056G= (p.Gly2019=)
c.5942G= (p.Gly1981=)
c.6011G= (p.Gly2004=)
c.5639G= (p.Gly1880=)
c.5795G= (p.Gly1932=)
c.6002G= (p.Gly2001=)
c.5303G= (p.Gly1768=)
c.6050G= (p.Gly2017=)
16g.3728991C>GCA394554424CREBBPc.6056G>C (p.Gly2019Ala)
c.5942G>C (p.Gly1981Ala)
c.6011G>C (p.Gly2004Ala)
c.5639G>C (p.Gly1880Ala)
c.5795G>C (p.Gly1932Ala)
c.6002G>C (p.Gly2001Ala)
c.5303G>C (p.Gly1768Ala)
c.6050G>C (p.Gly2017Ala)
dbSNP
16g.3728991C>TCA394554422CREBBPc.6056G>A (p.Gly2019Glu)
c.5942G>A (p.Gly1981Glu)
c.6011G>A (p.Gly2004Glu)
c.5639G>A (p.Gly1880Glu)
c.5795G>A (p.Gly1932Glu)
c.6002G>A (p.Gly2001Glu)
c.5303G>A (p.Gly1768Glu)
c.6050G>A (p.Gly2017Glu)
dbSNP gnomAD v4
16g.3728992C>ACA394554427CREBBPc.6055G>T (p.Gly2019Trp)
c.5941G>T (p.Gly1981Trp)
c.6010G>T (p.Gly2004Trp)
c.5638G>T (p.Gly1880Trp)
c.5794G>T (p.Gly1932Trp)
c.6001G>T (p.Gly2001Trp)
c.5302G>T (p.Gly1768Trp)
c.6049G>T (p.Gly2017Trp)
dbSNP gnomAD v4 COSMIC
16g.3728992C=CA2202916150CREBBPc.6055G= (p.Gly2019=)
c.5941G= (p.Gly1981=)
c.6010G= (p.Gly2004=)
c.5638G= (p.Gly1880=)
c.5794G= (p.Gly1932=)
c.6001G= (p.Gly2001=)
c.5302G= (p.Gly1768=)
c.6049G= (p.Gly2017=)
16g.3728992C>GCA7869190CREBBPc.6055G>C (p.Gly2019Arg)
c.5941G>C (p.Gly1981Arg)
c.6010G>C (p.Gly2004Arg)
c.5638G>C (p.Gly1880Arg)
c.5794G>C (p.Gly1932Arg)
c.6001G>C (p.Gly2001Arg)
c.5302G>C (p.Gly1768Arg)
c.6049G>C (p.Gly2017Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728992C>TCA7869189CREBBPc.6055G>A (p.Gly2019Arg)
c.5941G>A (p.Gly1981Arg)
c.6010G>A (p.Gly2004Arg)
c.5638G>A (p.Gly1880Arg)
c.5794G>A (p.Gly1932Arg)
c.6001G>A (p.Gly2001Arg)
c.5302G>A (p.Gly1768Arg)
c.6049G>A (p.Gly2017Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728993G>ACA7869191CREBBPc.6054C>T (p.Pro2018=)
c.5940C>T (p.Pro1980=)
c.6009C>T (p.Pro2003=)
c.5637C>T (p.Pro1879=)
c.5793C>T (p.Pro1931=)
c.6000C>T (p.Pro2000=)
c.5301C>T (p.Pro1767=)
c.6048C>T (p.Pro2016=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728993G>CCA493393934CREBBPc.6054C>G (p.Pro2018=)
c.5940C>G (p.Pro1980=)
c.6009C>G (p.Pro2003=)
c.5637C>G (p.Pro1879=)
c.5793C>G (p.Pro1931=)
c.6000C>G (p.Pro2000=)
c.5301C>G (p.Pro1767=)
c.6048C>G (p.Pro2016=)
dbSNP gnomAD v4
16g.3728993G=CA2202916151CREBBPc.6054C= (p.Pro2018=)
c.5940C= (p.Pro1980=)
c.6009C= (p.Pro2003=)
c.5637C= (p.Pro1879=)
c.5793C= (p.Pro1931=)
c.6000C= (p.Pro2000=)
c.5301C= (p.Pro1767=)
c.6048C= (p.Pro2016=)
16g.3728993G>TCA493393935CREBBPc.6054C>A (p.Pro2018=)
c.5940C>A (p.Pro1980=)
c.6009C>A (p.Pro2003=)
c.5637C>A (p.Pro1879=)
c.5793C>A (p.Pro1931=)
c.6000C>A (p.Pro2000=)
c.5301C>A (p.Pro1767=)
c.6048C>A (p.Pro2016=)
gnomAD v4
16g.3728995delCA2631403221CREBBPc.6054del (p.Gln2020SerfsTer20)
c.5940del (p.Gln1982SerfsTer20)
c.6009del (p.Gln2005SerfsTer20)
c.5637del (p.Gln1881SerfsTer20)
c.5793del (p.Gln1933SerfsTer20)
c.6000del (p.Gln2002SerfsTer20)
c.5301del (p.Gln1769SerfsTer20)
c.6048del (p.Gln2018SerfsTer20)
gnomAD v4
16g.3728994G>ACA394554430CREBBPc.6053C>T (p.Pro2018Leu)
c.5939C>T (p.Pro1980Leu)
c.6008C>T (p.Pro2003Leu)
c.5636C>T (p.Pro1879Leu)
c.5792C>T (p.Pro1931Leu)
c.5999C>T (p.Pro2000Leu)
c.5300C>T (p.Pro1767Leu)
c.6047C>T (p.Pro2016Leu)
dbSNP gnomAD v4
16g.3728994G>CCA394554433CREBBPc.6053C>G (p.Pro2018Arg)
c.5939C>G (p.Pro1980Arg)
c.6008C>G (p.Pro2003Arg)
c.5636C>G (p.Pro1879Arg)
c.5792C>G (p.Pro1931Arg)
c.5999C>G (p.Pro2000Arg)
c.5300C>G (p.Pro1767Arg)
c.6047C>G (p.Pro2016Arg)
dbSNP
16g.3728994G>TCA394554432CREBBPc.6053C>A (p.Pro2018His)
c.5939C>A (p.Pro1980His)
c.6008C>A (p.Pro2003His)
c.5636C>A (p.Pro1879His)
c.5792C>A (p.Pro1931His)
c.5999C>A (p.Pro2000His)
c.5300C>A (p.Pro1767His)
c.6047C>A (p.Pro2016His)
dbSNP gnomAD v4
16g.3728995G>ACA7869192CREBBPc.6052C>T (p.Pro2018Ser)
c.5938C>T (p.Pro1980Ser)
c.6007C>T (p.Pro2003Ser)
c.5635C>T (p.Pro1879Ser)
c.5791C>T (p.Pro1931Ser)
c.5998C>T (p.Pro2000Ser)
c.5299C>T (p.Pro1767Ser)
c.6046C>T (p.Pro2016Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.3728995G>CCA394554435CREBBPc.6052C>G (p.Pro2018Ala)
c.5938C>G (p.Pro1980Ala)
c.6007C>G (p.Pro2003Ala)
c.5635C>G (p.Pro1879Ala)
c.5791C>G (p.Pro1931Ala)
c.5998C>G (p.Pro2000Ala)
c.5299C>G (p.Pro1767Ala)
c.6046C>G (p.Pro2016Ala)
dbSNP
16g.3728995G=CA2202916152CREBBPc.6052C= (p.Pro2018=)
c.5938C= (p.Pro1980=)
c.6007C= (p.Pro2003=)
c.5635C= (p.Pro1879=)
c.5791C= (p.Pro1931=)
c.5998C= (p.Pro2000=)
c.5299C= (p.Pro1767=)
c.6046C= (p.Pro2016=)
16g.3728995G>TCA394554436CREBBPc.6052C>A (p.Pro2018Thr)
c.5938C>A (p.Pro1980Thr)
c.6007C>A (p.Pro2003Thr)
c.5635C>A (p.Pro1879Thr)
c.5791C>A (p.Pro1931Thr)
c.5998C>A (p.Pro2000Thr)
c.5299C>A (p.Pro1767Thr)
c.6046C>A (p.Pro2016Thr)
gnomAD v4
16g.3728996A>CCA493393938CREBBPc.6051T>G (p.Pro2017=)
c.5937T>G (p.Pro1979=)
c.6006T>G (p.Pro2002=)
c.5634T>G (p.Pro1878=)
c.5790T>G (p.Pro1930=)
c.5997T>G (p.Pro1999=)
c.5298T>G (p.Pro1766=)
c.6045T>G (p.Pro2015=)
16g.3728996A>GCA493393940CREBBPc.6051T>C (p.Pro2017=)
c.5937T>C (p.Pro1979=)
c.6006T>C (p.Pro2002=)
c.5634T>C (p.Pro1878=)
c.5790T>C (p.Pro1930=)
c.5997T>C (p.Pro1999=)
c.5298T>C (p.Pro1766=)
c.6045T>C (p.Pro2015=)
16g.3728996A>TCA493393942CREBBPc.6051T>A (p.Pro2017=)
c.5937T>A (p.Pro1979=)
c.6006T>A (p.Pro2002=)
c.5634T>A (p.Pro1878=)
c.5790T>A (p.Pro1930=)
c.5997T>A (p.Pro1999=)
c.5298T>A (p.Pro1766=)
c.6045T>A (p.Pro2015=)
16g.3728997G>ACA276971797CREBBPc.6050C>T (p.Pro2017Leu)
c.5936C>T (p.Pro1979Leu)
c.6005C>T (p.Pro2002Leu)
c.5633C>T (p.Pro1878Leu)
c.5789C>T (p.Pro1930Leu)
c.5996C>T (p.Pro1999Leu)
c.5297C>T (p.Pro1766Leu)
c.6044C>T (p.Pro2015Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728997G>CCA394554438CREBBPc.6050C>G (p.Pro2017Arg)
c.5936C>G (p.Pro1979Arg)
c.6005C>G (p.Pro2002Arg)
c.5633C>G (p.Pro1878Arg)
c.5789C>G (p.Pro1930Arg)
c.5996C>G (p.Pro1999Arg)
c.5297C>G (p.Pro1766Arg)
c.6044C>G (p.Pro2015Arg)
dbSNP gnomAD v4
16g.3728997G=CA2202916153CREBBPc.6050C= (p.Pro2017=)
c.5936C= (p.Pro1979=)
c.6005C= (p.Pro2002=)
c.5633C= (p.Pro1878=)
c.5789C= (p.Pro1930=)
c.5996C= (p.Pro1999=)
c.5297C= (p.Pro1766=)
c.6044C= (p.Pro2015=)
16g.3728997G>TCA394554440CREBBPc.6050C>A (p.Pro2017His)
c.5936C>A (p.Pro1979His)
c.6005C>A (p.Pro2002His)
c.5633C>A (p.Pro1878His)
c.5789C>A (p.Pro1930His)
c.5996C>A (p.Pro1999His)
c.5297C>A (p.Pro1766His)
c.6044C>A (p.Pro2015His)
dbSNP gnomAD v4
16g.3728997_3729003dupCA2695222619CREBBPc.6044_6050dup (p.Pro2018HisfsTer?)
c.5930_5936dup (p.Pro1980HisfsTer?)
c.5999_6005dup (p.Pro2003HisfsTer?)
c.5627_5633dup (p.Pro1879HisfsTer?)
c.5783_5789dup (p.Pro1931HisfsTer?)
c.5990_5996dup (p.Pro2000HisfsTer?)
c.5291_5297dup (p.Pro1767HisfsTer?)
c.6038_6044dup (p.Pro2016HisfsTer?)
16g.3728998G>ACA394554443CREBBPc.6049C>T (p.Pro2017Ser)
c.5935C>T (p.Pro1979Ser)
c.6004C>T (p.Pro2002Ser)
c.5632C>T (p.Pro1878Ser)
c.5788C>T (p.Pro1930Ser)
c.5995C>T (p.Pro1999Ser)
c.5296C>T (p.Pro1766Ser)
c.6043C>T (p.Pro2015Ser)
dbSNP gnomAD v4
16g.3728998G>CCA394554445CREBBPc.6049C>G (p.Pro2017Ala)
c.5935C>G (p.Pro1979Ala)
c.6004C>G (p.Pro2002Ala)
c.5632C>G (p.Pro1878Ala)
c.5788C>G (p.Pro1930Ala)
c.5995C>G (p.Pro1999Ala)
c.5296C>G (p.Pro1766Ala)
c.6043C>G (p.Pro2015Ala)
gnomAD v4
16g.3728998G>TCA394554446CREBBPc.6049C>A (p.Pro2017Thr)
c.5935C>A (p.Pro1979Thr)
c.6004C>A (p.Pro2002Thr)
c.5632C>A (p.Pro1878Thr)
c.5788C>A (p.Pro1930Thr)
c.5995C>A (p.Pro1999Thr)
c.5296C>A (p.Pro1766Thr)
c.6043C>A (p.Pro2015Thr)
gnomAD v4
16g.3728999C>ACA394554449CREBBPc.6048G>T (p.Met2016Ile)
c.5934G>T (p.Met1978Ile)
c.6003G>T (p.Met2001Ile)
c.5631G>T (p.Met1877Ile)
c.5787G>T (p.Met1929Ile)
c.5994G>T (p.Met1998Ile)
c.5295G>T (p.Met1765Ile)
c.6042G>T (p.Met2014Ile)
gnomAD v4
16g.3728999C>GCA394554451CREBBPc.6048G>C (p.Met2016Ile)
c.5934G>C (p.Met1978Ile)
c.6003G>C (p.Met2001Ile)
c.5631G>C (p.Met1877Ile)
c.5787G>C (p.Met1929Ile)
c.5994G>C (p.Met1998Ile)
c.5295G>C (p.Met1765Ile)
c.6042G>C (p.Met2014Ile)
dbSNP
16g.3728999C>TCA394554452CREBBPc.6048G>A (p.Met2016Ile)
c.5934G>A (p.Met1978Ile)
c.6003G>A (p.Met2001Ile)
c.5631G>A (p.Met1877Ile)
c.5787G>A (p.Met1929Ile)
c.5994G>A (p.Met1998Ile)
c.5295G>A (p.Met1765Ile)
c.6042G>A (p.Met2014Ile)
dbSNP gnomAD v4
16g.3729000A>CCA394554455CREBBPc.6047T>G (p.Met2016Arg)
c.5933T>G (p.Met1978Arg)
c.6002T>G (p.Met2001Arg)
c.5630T>G (p.Met1877Arg)
c.5786T>G (p.Met1929Arg)
c.5993T>G (p.Met1998Arg)
c.5294T>G (p.Met1765Arg)
c.6041T>G (p.Met2014Arg)
16g.3729000A>GCA394554456CREBBPc.6047T>C (p.Met2016Thr)
c.5933T>C (p.Met1978Thr)
c.6002T>C (p.Met2001Thr)
c.5630T>C (p.Met1877Thr)
c.5786T>C (p.Met1929Thr)
c.5993T>C (p.Met1998Thr)
c.5294T>C (p.Met1765Thr)
c.6041T>C (p.Met2014Thr)
gnomAD v4
16g.3729000A>TCA394554453CREBBPc.6047T>A (p.Met2016Lys)
c.5933T>A (p.Met1978Lys)
c.6002T>A (p.Met2001Lys)
c.5630T>A (p.Met1877Lys)
c.5786T>A (p.Met1929Lys)
c.5993T>A (p.Met1998Lys)
c.5294T>A (p.Met1765Lys)
c.6041T>A (p.Met2014Lys)
dbSNP
16g.3729001T>ACA394554458CREBBPc.6046A>T (p.Met2016Leu)
c.5932A>T (p.Met1978Leu)
c.6001A>T (p.Met2001Leu)
c.5629A>T (p.Met1877Leu)
c.5785A>T (p.Met1929Leu)
c.5992A>T (p.Met1998Leu)
c.5293A>T (p.Met1765Leu)
c.6040A>T (p.Met2014Leu)
dbSNP gnomAD v2 gnomAD v4
16g.3729001T>CCA394554461CREBBPc.6046A>G (p.Met2016Val)
c.5932A>G (p.Met1978Val)
c.6001A>G (p.Met2001Val)
c.5629A>G (p.Met1877Val)
c.5785A>G (p.Met1929Val)
c.5992A>G (p.Met1998Val)
c.5293A>G (p.Met1765Val)
c.6040A>G (p.Met2014Val)
dbSNP gnomAD v3 gnomAD v4
16g.3729001T>GCA394554460CREBBPc.6046A>C (p.Met2016Leu)
c.5932A>C (p.Met1978Leu)
c.6001A>C (p.Met2001Leu)
c.5629A>C (p.Met1877Leu)
c.5785A>C (p.Met1929Leu)
c.5992A>C (p.Met1998Leu)
c.5293A>C (p.Met1765Leu)
c.6040A>C (p.Met2014Leu)
dbSNP
16g.3729001T=CA2202916154CREBBPc.6046A= (p.Met2016=)
c.5932A= (p.Met1978=)
c.6001A= (p.Met2001=)
c.5629A= (p.Met1877=)
c.5785A= (p.Met1929=)
c.5992A= (p.Met1998=)
c.5293A= (p.Met1765=)
c.6040A= (p.Met2014=)
16g.3729002G>ACA493393950CREBBPc.6045C>T (p.Ser2015=)
c.5931C>T (p.Ser1977=)
c.6000C>T (p.Ser2000=)
c.5628C>T (p.Ser1876=)
c.5784C>T (p.Ser1928=)
c.5991C>T (p.Ser1997=)
c.5292C>T (p.Ser1764=)
c.6039C>T (p.Ser2013=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729002G>CCA394554463CREBBPc.6045C>G (p.Ser2015Arg)
c.5931C>G (p.Ser1977Arg)
c.6000C>G (p.Ser2000Arg)
c.5628C>G (p.Ser1876Arg)
c.5784C>G (p.Ser1928Arg)
c.5991C>G (p.Ser1997Arg)
c.5292C>G (p.Ser1764Arg)
c.6039C>G (p.Ser2013Arg)
dbSNP
16g.3729002G=CA2202916155CREBBPc.6045C= (p.Ser2015=)
c.5931C= (p.Ser1977=)
c.6000C= (p.Ser2000=)
c.5628C= (p.Ser1876=)
c.5784C= (p.Ser1928=)
c.5991C= (p.Ser1997=)
c.5292C= (p.Ser1764=)
c.6039C= (p.Ser2013=)
16g.3729002G>TCA394554465CREBBPc.6045C>A (p.Ser2015Arg)
c.5931C>A (p.Ser1977Arg)
c.6000C>A (p.Ser2000Arg)
c.5628C>A (p.Ser1876Arg)
c.5784C>A (p.Ser1928Arg)
c.5991C>A (p.Ser1997Arg)
c.5292C>A (p.Ser1764Arg)
c.6039C>A (p.Ser2013Arg)
gnomAD v4
16g.3729003C>ACA394554467CREBBPc.6044G>T (p.Ser2015Ile)
c.5930G>T (p.Ser1977Ile)
c.5999G>T (p.Ser2000Ile)
c.5627G>T (p.Ser1876Ile)
c.5783G>T (p.Ser1928Ile)
c.5990G>T (p.Ser1997Ile)
c.5291G>T (p.Ser1764Ile)
c.6038G>T (p.Ser2013Ile)
dbSNP gnomAD v4
16g.3729003C>GCA394554469CREBBPc.6044G>C (p.Ser2015Thr)
c.5930G>C (p.Ser1977Thr)
c.5999G>C (p.Ser2000Thr)
c.5627G>C (p.Ser1876Thr)
c.5783G>C (p.Ser1928Thr)
c.5990G>C (p.Ser1997Thr)
c.5291G>C (p.Ser1764Thr)
c.6038G>C (p.Ser2013Thr)
dbSNP gnomAD v4
16g.3729003C>TCA394554471CREBBPc.6044G>A (p.Ser2015Asn)
c.5930G>A (p.Ser1977Asn)
c.5999G>A (p.Ser2000Asn)
c.5627G>A (p.Ser1876Asn)
c.5783G>A (p.Ser1928Asn)
c.5990G>A (p.Ser1997Asn)
c.5291G>A (p.Ser1764Asn)
c.6038G>A (p.Ser2013Asn)
dbSNP gnomAD v4
16g.3729004delCA2695222620CREBBPc.6043del (p.Ser2015AlafsTer25)
c.5929del (p.Ser1977AlafsTer25)
c.5998del (p.Ser2000AlafsTer25)
c.5626del (p.Ser1876AlafsTer25)
c.5782del (p.Ser1928AlafsTer25)
c.5989del (p.Ser1997AlafsTer25)
c.5290del (p.Ser1764AlafsTer25)
c.6037del (p.Ser2013AlafsTer25)
16g.3729004T>ACA394554474CREBBPc.6043A>T (p.Ser2015Cys)
c.5929A>T (p.Ser1977Cys)
c.5998A>T (p.Ser2000Cys)
c.5626A>T (p.Ser1876Cys)
c.5782A>T (p.Ser1928Cys)
c.5989A>T (p.Ser1997Cys)
c.5290A>T (p.Ser1764Cys)
c.6037A>T (p.Ser2013Cys)
16g.3729004T>CCA394554476CREBBPc.6043A>G (p.Ser2015Gly)
c.5929A>G (p.Ser1977Gly)
c.5998A>G (p.Ser2000Gly)
c.5626A>G (p.Ser1876Gly)
c.5782A>G (p.Ser1928Gly)
c.5989A>G (p.Ser1997Gly)
c.5290A>G (p.Ser1764Gly)
c.6037A>G (p.Ser2013Gly)
gnomAD v4
16g.3729004T>GCA394554477CREBBPc.6043A>C (p.Ser2015Arg)
c.5929A>C (p.Ser1977Arg)
c.5998A>C (p.Ser2000Arg)
c.5626A>C (p.Ser1876Arg)
c.5782A>C (p.Ser1928Arg)
c.5989A>C (p.Ser1997Arg)
c.5290A>C (p.Ser1764Arg)
c.6037A>C (p.Ser2013Arg)
16g.3729004dupCA2573152059CREBBPc.6043dup (p.Ser2015LysfsTer?)
c.5929dup (p.Ser1977LysfsTer?)
c.5998dup (p.Ser2000LysfsTer?)
c.5626dup (p.Ser1876LysfsTer?)
c.5782dup (p.Ser1928LysfsTer?)
c.5989dup (p.Ser1997LysfsTer?)
c.5290dup (p.Ser1764LysfsTer?)
c.6037dup (p.Ser2013LysfsTer?)
ClinVar dbSNP
16g.3729005G>ACA493393960CREBBPc.6042C>T (p.Pro2014=)
c.5928C>T (p.Pro1976=)
c.5997C>T (p.Pro1999=)
c.5625C>T (p.Pro1875=)
c.5781C>T (p.Pro1927=)
c.5988C>T (p.Pro1996=)
c.5289C>T (p.Pro1763=)
c.6036C>T (p.Pro2012=)
dbSNP gnomAD v2 gnomAD v4
16g.3729005G>CCA493393962CREBBPc.6042C>G (p.Pro2014=)
c.5928C>G (p.Pro1976=)
c.5997C>G (p.Pro1999=)
c.5625C>G (p.Pro1875=)
c.5781C>G (p.Pro1927=)
c.5988C>G (p.Pro1996=)
c.5289C>G (p.Pro1763=)
c.6036C>G (p.Pro2012=)
dbSNP
16g.3729005G=CA2202916156CREBBPc.6042C= (p.Pro2014=)
c.5928C= (p.Pro1976=)
c.5997C= (p.Pro1999=)
c.5625C= (p.Pro1875=)
c.5781C= (p.Pro1927=)
c.5988C= (p.Pro1996=)
c.5289C= (p.Pro1763=)
c.6036C= (p.Pro2012=)
16g.3729005G>TCA493393961CREBBPc.6042C>A (p.Pro2014=)
c.5928C>A (p.Pro1976=)
c.5997C>A (p.Pro1999=)
c.5625C>A (p.Pro1875=)
c.5781C>A (p.Pro1927=)
c.5988C>A (p.Pro1996=)
c.5289C>A (p.Pro1763=)
c.6036C>A (p.Pro2012=)
gnomAD v4
16g.3729007delCA2631403250CREBBPc.6042del (p.Ser2015AlafsTer25)
c.5928del (p.Ser1977AlafsTer25)
c.5997del (p.Ser2000AlafsTer25)
c.5625del (p.Ser1876AlafsTer25)
c.5781del (p.Ser1928AlafsTer25)
c.5988del (p.Ser1997AlafsTer25)
c.5289del (p.Ser1764AlafsTer25)
c.6036del (p.Ser2013AlafsTer25)
dbSNP gnomAD v4
16g.3729006G>ACA394554480CREBBPc.6041C>T (p.Pro2014Leu)
c.5927C>T (p.Pro1976Leu)
c.5996C>T (p.Pro1999Leu)
c.5624C>T (p.Pro1875Leu)
c.5780C>T (p.Pro1927Leu)
c.5987C>T (p.Pro1996Leu)
c.5288C>T (p.Pro1763Leu)
c.6035C>T (p.Pro2012Leu)
dbSNP gnomAD v4
16g.3729006G>CCA394554481CREBBPc.6041C>G (p.Pro2014Arg)
c.5927C>G (p.Pro1976Arg)
c.5996C>G (p.Pro1999Arg)
c.5624C>G (p.Pro1875Arg)
c.5780C>G (p.Pro1927Arg)
c.5987C>G (p.Pro1996Arg)
c.5288C>G (p.Pro1763Arg)
c.6035C>G (p.Pro2012Arg)
dbSNP
16g.3729006G>TCA394554482CREBBPc.6041C>A (p.Pro2014His)
c.5927C>A (p.Pro1976His)
c.5996C>A (p.Pro1999His)
c.5624C>A (p.Pro1875His)
c.5780C>A (p.Pro1927His)
c.5987C>A (p.Pro1996His)
c.5288C>A (p.Pro1763His)
c.6035C>A (p.Pro2012His)
gnomAD v4
16g.3729007G>ACA394554488CREBBPc.6040C>T (p.Pro2014Ser)
c.5926C>T (p.Pro1976Ser)
c.5995C>T (p.Pro1999Ser)
c.5623C>T (p.Pro1875Ser)
c.5779C>T (p.Pro1927Ser)
c.5986C>T (p.Pro1996Ser)
c.5287C>T (p.Pro1763Ser)
c.6034C>T (p.Pro2012Ser)
dbSNP gnomAD v4
16g.3729007G>CCA394554486CREBBPc.6040C>G (p.Pro2014Ala)
c.5926C>G (p.Pro1976Ala)
c.5995C>G (p.Pro1999Ala)
c.5623C>G (p.Pro1875Ala)
c.5779C>G (p.Pro1927Ala)
c.5986C>G (p.Pro1996Ala)
c.5287C>G (p.Pro1763Ala)
c.6034C>G (p.Pro2012Ala)
dbSNP gnomAD v4
16g.3729007G=CA2202916157CREBBPc.6040C= (p.Pro2014=)
c.5926C= (p.Pro1976=)
c.5995C= (p.Pro1999=)
c.5623C= (p.Pro1875=)
c.5779C= (p.Pro1927=)
c.5986C= (p.Pro1996=)
c.5287C= (p.Pro1763=)
c.6034C= (p.Pro2012=)
16g.3729007G>TCA394554484CREBBPc.6040C>A (p.Pro2014Thr)
c.5926C>A (p.Pro1976Thr)
c.5995C>A (p.Pro1999Thr)
c.5623C>A (p.Pro1875Thr)
c.5779C>A (p.Pro1927Thr)
c.5986C>A (p.Pro1996Thr)
c.5287C>A (p.Pro1763Thr)
c.6034C>A (p.Pro2012Thr)
gnomAD v4
16g.3729008C>ACA394554490CREBBPc.6039G>T (p.Met2013Ile)
c.5925G>T (p.Met1975Ile)
c.5994G>T (p.Met1998Ile)
c.5622G>T (p.Met1874Ile)
c.5778G>T (p.Met1926Ile)
c.5985G>T (p.Met1995Ile)
c.5286G>T (p.Met1762Ile)
c.6033G>T (p.Met2011Ile)
gnomAD v4
16g.3729008C=CA2202916158CREBBPc.6039G= (p.Met2013=)
c.5925G= (p.Met1975=)
c.5994G= (p.Met1998=)
c.5622G= (p.Met1874=)
c.5778G= (p.Met1926=)
c.5985G= (p.Met1995=)
c.5286G= (p.Met1762=)
c.6033G= (p.Met2011=)
16g.3729008C>GCA394554492CREBBPc.6039G>C (p.Met2013Ile)
c.5925G>C (p.Met1975Ile)
c.5994G>C (p.Met1998Ile)
c.5622G>C (p.Met1874Ile)
c.5778G>C (p.Met1926Ile)
c.5985G>C (p.Met1995Ile)
c.5286G>C (p.Met1762Ile)
c.6033G>C (p.Met2011Ile)
dbSNP
16g.3729008C>TCA7869193CREBBPc.6039G>A (p.Met2013Ile)
c.5925G>A (p.Met1975Ile)
c.5994G>A (p.Met1998Ile)
c.5622G>A (p.Met1874Ile)
c.5778G>A (p.Met1926Ile)
c.5985G>A (p.Met1995Ile)
c.5286G>A (p.Met1762Ile)
c.6033G>A (p.Met2011Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729009A>CCA394554495CREBBPc.6038T>G (p.Met2013Arg)
c.5924T>G (p.Met1975Arg)
c.5993T>G (p.Met1998Arg)
c.5621T>G (p.Met1874Arg)
c.5777T>G (p.Met1926Arg)
c.5984T>G (p.Met1995Arg)
c.5285T>G (p.Met1762Arg)
c.6032T>G (p.Met2011Arg)
dbSNP gnomAD v4
16g.3729009A>GCA394554497CREBBPc.6038T>C (p.Met2013Thr)
c.5924T>C (p.Met1975Thr)
c.5993T>C (p.Met1998Thr)
c.5621T>C (p.Met1874Thr)
c.5777T>C (p.Met1926Thr)
c.5984T>C (p.Met1995Thr)
c.5285T>C (p.Met1762Thr)
c.6032T>C (p.Met2011Thr)
16g.3729009A>TCA394554499CREBBPc.6038T>A (p.Met2013Lys)
c.5924T>A (p.Met1975Lys)
c.5993T>A (p.Met1998Lys)
c.5621T>A (p.Met1874Lys)
c.5777T>A (p.Met1926Lys)
c.5984T>A (p.Met1995Lys)
c.5285T>A (p.Met1762Lys)
c.6032T>A (p.Met2011Lys)
dbSNP
16g.3729010T>ACA394554502CREBBPc.6037A>T (p.Met2013Leu)
c.5923A>T (p.Met1975Leu)
c.5992A>T (p.Met1998Leu)
c.5620A>T (p.Met1874Leu)
c.5776A>T (p.Met1926Leu)
c.5983A>T (p.Met1995Leu)
c.5284A>T (p.Met1762Leu)
c.6031A>T (p.Met2011Leu)
gnomAD v4
16g.3729010T>CCA394554503CREBBPc.6037A>G (p.Met2013Val)
c.5923A>G (p.Met1975Val)
c.5992A>G (p.Met1998Val)
c.5620A>G (p.Met1874Val)
c.5776A>G (p.Met1926Val)
c.5983A>G (p.Met1995Val)
c.5284A>G (p.Met1762Val)
c.6031A>G (p.Met2011Val)
dbSNP
16g.3729010T>GCA394554505CREBBPc.6037A>C (p.Met2013Leu)
c.5923A>C (p.Met1975Leu)
c.5992A>C (p.Met1998Leu)
c.5620A>C (p.Met1874Leu)
c.5776A>C (p.Met1926Leu)
c.5983A>C (p.Met1995Leu)
c.5284A>C (p.Met1762Leu)
c.6031A>C (p.Met2011Leu)
dbSNP gnomAD v2 gnomAD v4
16g.3729010T=CA2202916159CREBBPc.6037A= (p.Met2013=)
c.5923A= (p.Met1975=)
c.5992A= (p.Met1998=)
c.5620A= (p.Met1874=)
c.5776A= (p.Met1926=)
c.5983A= (p.Met1995=)
c.5284A= (p.Met1762=)
c.6031A= (p.Met2011=)
16g.3729011G>ACA493393977CREBBPc.6036C>T (p.Val2012=)
c.5922C>T (p.Val1974=)
c.5991C>T (p.Val1997=)
c.5619C>T (p.Val1873=)
c.5775C>T (p.Val1925=)
c.5982C>T (p.Val1994=)
c.5283C>T (p.Val1761=)
c.6030C>T (p.Val2010=)
dbSNP gnomAD v4
16g.3729011G>CCA493393978CREBBPc.6036C>G (p.Val2012=)
c.5922C>G (p.Val1974=)
c.5991C>G (p.Val1997=)
c.5619C>G (p.Val1873=)
c.5775C>G (p.Val1925=)
c.5982C>G (p.Val1994=)
c.5283C>G (p.Val1761=)
c.6030C>G (p.Val2010=)
dbSNP
16g.3729011G>TCA493393979CREBBPc.6036C>A (p.Val2012=)
c.5922C>A (p.Val1974=)
c.5991C>A (p.Val1997=)
c.5619C>A (p.Val1873=)
c.5775C>A (p.Val1925=)
c.5982C>A (p.Val1994=)
c.5283C>A (p.Val1761=)
c.6030C>A (p.Val2010=)
gnomAD v4
16g.3729012A=CA2202916160CREBBPc.6035T= (p.Val2012=)
c.5921T= (p.Val1974=)
c.5990T= (p.Val1997=)
c.5618T= (p.Val1873=)
c.5774T= (p.Val1925=)
c.5981T= (p.Val1994=)
c.5282T= (p.Val1761=)
c.6029T= (p.Val2010=)
16g.3729012A>CCA394554508CREBBPc.6035T>G (p.Val2012Gly)
c.5921T>G (p.Val1974Gly)
c.5990T>G (p.Val1997Gly)
c.5618T>G (p.Val1873Gly)
c.5774T>G (p.Val1925Gly)
c.5981T>G (p.Val1994Gly)
c.5282T>G (p.Val1761Gly)
c.6029T>G (p.Val2010Gly)
dbSNP
16g.3729012A>GCA394554509CREBBPc.6035T>C (p.Val2012Ala)
c.5921T>C (p.Val1974Ala)
c.5990T>C (p.Val1997Ala)
c.5618T>C (p.Val1873Ala)
c.5774T>C (p.Val1925Ala)
c.5981T>C (p.Val1994Ala)
c.5282T>C (p.Val1761Ala)
c.6029T>C (p.Val2010Ala)
dbSNP gnomAD v4
16g.3729012A>TCA394554510CREBBPc.6035T>A (p.Val2012Asp)
c.5921T>A (p.Val1974Asp)
c.5990T>A (p.Val1997Asp)
c.5618T>A (p.Val1873Asp)
c.5774T>A (p.Val1925Asp)
c.5981T>A (p.Val1994Asp)
c.5282T>A (p.Val1761Asp)
c.6029T>A (p.Val2010Asp)
dbSNP gnomAD v2
16g.3729013C>ACA7869194CREBBPc.6034G>T (p.Val2012Phe)
c.5920G>T (p.Val1974Phe)
c.5989G>T (p.Val1997Phe)
c.5617G>T (p.Val1873Phe)
c.5773G>T (p.Val1925Phe)
c.5980G>T (p.Val1994Phe)
c.5281G>T (p.Val1761Phe)
c.6028G>T (p.Val2010Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729013C=CA2202916161CREBBPc.6034G= (p.Val2012=)
c.5920G= (p.Val1974=)
c.5989G= (p.Val1997=)
c.5617G= (p.Val1873=)
c.5773G= (p.Val1925=)
c.5980G= (p.Val1994=)
c.5281G= (p.Val1761=)
c.6028G= (p.Val2010=)
16g.3729013C>GCA394554514CREBBPc.6034G>C (p.Val2012Leu)
c.5920G>C (p.Val1974Leu)
c.5989G>C (p.Val1997Leu)
c.5617G>C (p.Val1873Leu)
c.5773G>C (p.Val1925Leu)
c.5980G>C (p.Val1994Leu)
c.5281G>C (p.Val1761Leu)
c.6028G>C (p.Val2010Leu)
dbSNP
16g.3729013C>TCA7869195CREBBPc.6034G>A (p.Val2012Ile)
c.5920G>A (p.Val1974Ile)
c.5989G>A (p.Val1997Ile)
c.5617G>A (p.Val1873Ile)
c.5773G>A (p.Val1925Ile)
c.5980G>A (p.Val1994Ile)
c.5281G>A (p.Val1761Ile)
c.6028G>A (p.Val2010Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729014G>ACA7869196CREBBPc.6033C>T (p.Pro2011=)
c.5919C>T (p.Pro1973=)
c.5988C>T (p.Pro1996=)
c.5616C>T (p.Pro1872=)
c.5772C>T (p.Pro1924=)
c.5979C>T (p.Pro1993=)
c.5280C>T (p.Pro1760=)
c.6027C>T (p.Pro2009=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729014G>CCA493393990CREBBPc.6033C>G (p.Pro2011=)
c.5919C>G (p.Pro1973=)
c.5988C>G (p.Pro1996=)
c.5616C>G (p.Pro1872=)
c.5772C>G (p.Pro1924=)
c.5979C>G (p.Pro1993=)
c.5280C>G (p.Pro1760=)
c.6027C>G (p.Pro2009=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729014G=CA2202916162CREBBPc.6033C= (p.Pro2011=)
c.5919C= (p.Pro1973=)
c.5988C= (p.Pro1996=)
c.5616C= (p.Pro1872=)
c.5772C= (p.Pro1924=)
c.5979C= (p.Pro1993=)
c.5280C= (p.Pro1760=)
c.6027C= (p.Pro2009=)
16g.3729014G>TCA493393992CREBBPc.6033C>A (p.Pro2011=)
c.5919C>A (p.Pro1973=)
c.5988C>A (p.Pro1996=)
c.5616C>A (p.Pro1872=)
c.5772C>A (p.Pro1924=)
c.5979C>A (p.Pro1993=)
c.5280C>A (p.Pro1760=)
c.6027C>A (p.Pro2009=)
gnomAD v4
16g.3729016dupCA1139664468CREBBPc.6033dup (p.Val2012ArgfsTer?)
c.5919dup (p.Val1974ArgfsTer?)
c.5988dup (p.Val1997ArgfsTer?)
c.5616dup (p.Val1873ArgfsTer?)
c.5772dup (p.Val1925ArgfsTer?)
c.5979dup (p.Val1994ArgfsTer?)
c.5280dup (p.Val1761ArgfsTer?)
c.6027dup (p.Val2010ArgfsTer?)
ClinVar dbSNP
16g.3729015G>ACA394554518CREBBPc.6032C>T (p.Pro2011Leu)
c.5918C>T (p.Pro1973Leu)
c.5987C>T (p.Pro1996Leu)
c.5615C>T (p.Pro1872Leu)
c.5771C>T (p.Pro1924Leu)
c.5978C>T (p.Pro1993Leu)
c.5279C>T (p.Pro1760Leu)
c.6026C>T (p.Pro2009Leu)
dbSNP
16g.3729015G>CCA394554520CREBBPc.6032C>G (p.Pro2011Arg)
c.5918C>G (p.Pro1973Arg)
c.5987C>G (p.Pro1996Arg)
c.5615C>G (p.Pro1872Arg)
c.5771C>G (p.Pro1924Arg)
c.5978C>G (p.Pro1993Arg)
c.5279C>G (p.Pro1760Arg)
c.6026C>G (p.Pro2009Arg)
dbSNP gnomAD v4
16g.3729015G=CA2202916163CREBBPc.6032C= (p.Pro2011=)
c.5918C= (p.Pro1973=)
c.5987C= (p.Pro1996=)
c.5615C= (p.Pro1872=)
c.5771C= (p.Pro1924=)
c.5978C= (p.Pro1993=)
c.5279C= (p.Pro1760=)
c.6026C= (p.Pro2009=)
16g.3729015G>TCA394554521CREBBPc.6032C>A (p.Pro2011His)
c.5918C>A (p.Pro1973His)
c.5987C>A (p.Pro1996His)
c.5615C>A (p.Pro1872His)
c.5771C>A (p.Pro1924His)
c.5978C>A (p.Pro1993His)
c.5279C>A (p.Pro1760His)
c.6026C>A (p.Pro2009His)
dbSNP gnomAD v4
16g.3729016G>ACA394554523CREBBPc.6031C>T (p.Pro2011Ser)
c.5917C>T (p.Pro1973Ser)
c.5986C>T (p.Pro1996Ser)
c.5614C>T (p.Pro1872Ser)
c.5770C>T (p.Pro1924Ser)
c.5977C>T (p.Pro1993Ser)
c.5278C>T (p.Pro1760Ser)
c.6025C>T (p.Pro2009Ser)
dbSNP gnomAD v4
16g.3729016G>CCA394554525CREBBPc.6031C>G (p.Pro2011Ala)
c.5917C>G (p.Pro1973Ala)
c.5986C>G (p.Pro1996Ala)
c.5614C>G (p.Pro1872Ala)
c.5770C>G (p.Pro1924Ala)
c.5977C>G (p.Pro1993Ala)
c.5278C>G (p.Pro1760Ala)
c.6025C>G (p.Pro2009Ala)
dbSNP
16g.3729016G=CA2202916164CREBBPc.6031C= (p.Pro2011=)
c.5917C= (p.Pro1973=)
c.5986C= (p.Pro1996=)
c.5614C= (p.Pro1872=)
c.5770C= (p.Pro1924=)
c.5977C= (p.Pro1993=)
c.5278C= (p.Pro1760=)
c.6025C= (p.Pro2009=)
16g.3729016G>TCA394554527CREBBPc.6031C>A (p.Pro2011Thr)
c.5917C>A (p.Pro1973Thr)
c.5986C>A (p.Pro1996Thr)
c.5614C>A (p.Pro1872Thr)
c.5770C>A (p.Pro1924Thr)
c.5977C>A (p.Pro1993Thr)
c.5278C>A (p.Pro1760Thr)
c.6025C>A (p.Pro2009Thr)
dbSNP gnomAD v2 gnomAD v4
16g.3729017C>ACA493393996CREBBPc.6030G>T (p.Gly2010=)
c.5916G>T (p.Gly1972=)
c.5985G>T (p.Gly1995=)
c.5613G>T (p.Gly1871=)
c.5769G>T (p.Gly1923=)
c.5976G>T (p.Gly1992=)
c.5277G>T (p.Gly1759=)
c.6024G>T (p.Gly2008=)
dbSNP gnomAD v4
16g.3729017C=CA2202916165CREBBPc.6030G= (p.Gly2010=)
c.5916G= (p.Gly1972=)
c.5985G= (p.Gly1995=)
c.5613G= (p.Gly1871=)
c.5769G= (p.Gly1923=)
c.5976G= (p.Gly1992=)
c.5277G= (p.Gly1759=)
c.6024G= (p.Gly2008=)
16g.3729017C>GCA493393998CREBBPc.6030G>C (p.Gly2010=)
c.5916G>C (p.Gly1972=)
c.5985G>C (p.Gly1995=)
c.5613G>C (p.Gly1871=)
c.5769G>C (p.Gly1923=)
c.5976G>C (p.Gly1992=)
c.5277G>C (p.Gly1759=)
c.6024G>C (p.Gly2008=)
16g.3729017C>TCA493393997CREBBPc.6030G>A (p.Gly2010=)
c.5916G>A (p.Gly1972=)
c.5985G>A (p.Gly1995=)
c.5613G>A (p.Gly1871=)
c.5769G>A (p.Gly1923=)
c.5976G>A (p.Gly1992=)
c.5277G>A (p.Gly1759=)
c.6024G>A (p.Gly2008=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3729018C>ACA7869197CREBBPc.6029G>T (p.Gly2010Val)
c.5915G>T (p.Gly1972Val)
c.5984G>T (p.Gly1995Val)
c.5612G>T (p.Gly1871Val)
c.5768G>T (p.Gly1923Val)
c.5975G>T (p.Gly1992Val)
c.5276G>T (p.Gly1759Val)
c.6023G>T (p.Gly2008Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729018C=CA2202916166CREBBPc.6029G= (p.Gly2010=)
c.5915G= (p.Gly1972=)
c.5984G= (p.Gly1995=)
c.5612G= (p.Gly1871=)
c.5768G= (p.Gly1923=)
c.5975G= (p.Gly1992=)
c.5276G= (p.Gly1759=)
c.6023G= (p.Gly2008=)
16g.3729018C>GCA394554530CREBBPc.6029G>C (p.Gly2010Ala)
c.5915G>C (p.Gly1972Ala)
c.5984G>C (p.Gly1995Ala)
c.5612G>C (p.Gly1871Ala)
c.5768G>C (p.Gly1923Ala)
c.5975G>C (p.Gly1992Ala)
c.5276G>C (p.Gly1759Ala)
c.6023G>C (p.Gly2008Ala)
dbSNP
16g.3729018C>TCA394554532CREBBPc.6029G>A (p.Gly2010Glu)
c.5915G>A (p.Gly1972Glu)
c.5984G>A (p.Gly1995Glu)
c.5612G>A (p.Gly1871Glu)
c.5768G>A (p.Gly1923Glu)
c.5975G>A (p.Gly1992Glu)
c.5276G>A (p.Gly1759Glu)
c.6023G>A (p.Gly2008Glu)
dbSNP gnomAD v2 gnomAD v4
16g.3729019C>ACA394554535CREBBPc.6028G>T (p.Gly2010Trp)
c.5914G>T (p.Gly1972Trp)
c.5983G>T (p.Gly1995Trp)
c.5611G>T (p.Gly1871Trp)
c.5767G>T (p.Gly1923Trp)
c.5974G>T (p.Gly1992Trp)
c.5275G>T (p.Gly1759Trp)
c.6022G>T (p.Gly2008Trp)
dbSNP gnomAD v4
16g.3729019C=CA2202916167CREBBPc.6028G= (p.Gly2010=)
c.5914G= (p.Gly1972=)
c.5983G= (p.Gly1995=)
c.5611G= (p.Gly1871=)
c.5767G= (p.Gly1923=)
c.5974G= (p.Gly1992=)
c.5275G= (p.Gly1759=)
c.6022G= (p.Gly2008=)
16g.3729019C>GCA394554536CREBBPc.6028G>C (p.Gly2010Arg)
c.5914G>C (p.Gly1972Arg)
c.5983G>C (p.Gly1995Arg)
c.5611G>C (p.Gly1871Arg)
c.5767G>C (p.Gly1923Arg)
c.5974G>C (p.Gly1992Arg)
c.5275G>C (p.Gly1759Arg)
c.6022G>C (p.Gly2008Arg)
dbSNP gnomAD v2 gnomAD v4
16g.3729019C>TCA7869198CREBBPc.6028G>A (p.Gly2010Arg)
c.5914G>A (p.Gly1972Arg)
c.5983G>A (p.Gly1995Arg)
c.5611G>A (p.Gly1871Arg)
c.5767G>A (p.Gly1923Arg)
c.5974G>A (p.Gly1992Arg)
c.5275G>A (p.Gly1759Arg)
c.6022G>A (p.Gly2008Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729020G>ACA7869199CREBBPc.6027C>T (p.Ser2009=)
c.5913C>T (p.Ser1971=)
c.5982C>T (p.Ser1994=)
c.5610C>T (p.Ser1870=)
c.5766C>T (p.Ser1922=)
c.5973C>T (p.Ser1991=)
c.5274C>T (p.Ser1758=)
c.6021C>T (p.Ser2007=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729020G>CCA394554540CREBBPc.6027C>G (p.Ser2009Arg)
c.5913C>G (p.Ser1971Arg)
c.5982C>G (p.Ser1994Arg)
c.5610C>G (p.Ser1870Arg)
c.5766C>G (p.Ser1922Arg)
c.5973C>G (p.Ser1991Arg)
c.5274C>G (p.Ser1758Arg)
c.6021C>G (p.Ser2007Arg)
dbSNP
16g.3729020G=CA2202916168CREBBPc.6027C= (p.Ser2009=)
c.5913C= (p.Ser1971=)
c.5982C= (p.Ser1994=)
c.5610C= (p.Ser1870=)
c.5766C= (p.Ser1922=)
c.5973C= (p.Ser1991=)
c.5274C= (p.Ser1758=)
c.6021C= (p.Ser2007=)
16g.3729020G>TCA394554542CREBBPc.6027C>A (p.Ser2009Arg)
c.5913C>A (p.Ser1971Arg)
c.5982C>A (p.Ser1994Arg)
c.5610C>A (p.Ser1870Arg)
c.5766C>A (p.Ser1922Arg)
c.5973C>A (p.Ser1991Arg)
c.5274C>A (p.Ser1758Arg)
c.6021C>A (p.Ser2007Arg)
gnomAD v4
16g.3729021C>ACA394554545CREBBPc.6026G>T (p.Ser2009Ile)
c.5912G>T (p.Ser1971Ile)
c.5981G>T (p.Ser1994Ile)
c.5609G>T (p.Ser1870Ile)
c.5765G>T (p.Ser1922Ile)
c.5972G>T (p.Ser1991Ile)
c.5273G>T (p.Ser1758Ile)
c.6020G>T (p.Ser2007Ile)
gnomAD v4
16g.3729021C>GCA394554546CREBBPc.6026G>C (p.Ser2009Thr)
c.5912G>C (p.Ser1971Thr)
c.5981G>C (p.Ser1994Thr)
c.5609G>C (p.Ser1870Thr)
c.5765G>C (p.Ser1922Thr)
c.5972G>C (p.Ser1991Thr)
c.5273G>C (p.Ser1758Thr)
c.6020G>C (p.Ser2007Thr)
dbSNP gnomAD v4
16g.3729021C>TCA394554548CREBBPc.6026G>A (p.Ser2009Asn)
c.5912G>A (p.Ser1971Asn)
c.5981G>A (p.Ser1994Asn)
c.5609G>A (p.Ser1870Asn)
c.5765G>A (p.Ser1922Asn)
c.5972G>A (p.Ser1991Asn)
c.5273G>A (p.Ser1758Asn)
c.6020G>A (p.Ser2007Asn)
dbSNP gnomAD v4
16g.3729022T>ACA394554550CREBBPc.6025A>T (p.Ser2009Cys)
c.5911A>T (p.Ser1971Cys)
c.5980A>T (p.Ser1994Cys)
c.5608A>T (p.Ser1870Cys)
c.5764A>T (p.Ser1922Cys)
c.5971A>T (p.Ser1991Cys)
c.5272A>T (p.Ser1758Cys)
c.6019A>T (p.Ser2007Cys)
dbSNP gnomAD v4
16g.3729022T>CCA394554552CREBBPc.6025A>G (p.Ser2009Gly)
c.5911A>G (p.Ser1971Gly)
c.5980A>G (p.Ser1994Gly)
c.5608A>G (p.Ser1870Gly)
c.5764A>G (p.Ser1922Gly)
c.5971A>G (p.Ser1991Gly)
c.5272A>G (p.Ser1758Gly)
c.6019A>G (p.Ser2007Gly)
dbSNP gnomAD v2 gnomAD v4
16g.3729022T>GCA394554554CREBBPc.6025A>C (p.Ser2009Arg)
c.5911A>C (p.Ser1971Arg)
c.5980A>C (p.Ser1994Arg)
c.5608A>C (p.Ser1870Arg)
c.5764A>C (p.Ser1922Arg)
c.5971A>C (p.Ser1991Arg)
c.5272A>C (p.Ser1758Arg)
c.6019A>C (p.Ser2007Arg)
16g.3729022T=CA2202916169CREBBPc.6025A= (p.Ser2009=)
c.5911A= (p.Ser1971=)
c.5980A= (p.Ser1994=)
c.5608A= (p.Ser1870=)
c.5764A= (p.Ser1922=)
c.5971A= (p.Ser1991=)
c.5272A= (p.Ser1758=)
c.6019A= (p.Ser2007=)
16g.3729023C>ACA493394171CREBBPc.6024G>T (p.Val2008=)
c.5910G>T (p.Val1970=)
c.5979G>T (p.Val1993=)
c.5607G>T (p.Val1869=)
c.5763G>T (p.Val1921=)
c.5970G>T (p.Val1990=)
c.5271G>T (p.Val1757=)
c.6018G>T (p.Val2006=)
dbSNP gnomAD v4
16g.3729023C>GCA493394172CREBBPc.6024G>C (p.Val2008=)
c.5910G>C (p.Val1970=)
c.5979G>C (p.Val1993=)
c.5607G>C (p.Val1869=)
c.5763G>C (p.Val1921=)
c.5970G>C (p.Val1990=)
c.5271G>C (p.Val1757=)
c.6018G>C (p.Val2006=)
dbSNP gnomAD v4
16g.3729023C>TCA493394173CREBBPc.6024G>A (p.Val2008=)
c.5910G>A (p.Val1970=)
c.5979G>A (p.Val1993=)
c.5607G>A (p.Val1869=)
c.5763G>A (p.Val1921=)
c.5970G>A (p.Val1990=)
c.5271G>A (p.Val1757=)
c.6018G>A (p.Val2006=)
dbSNP gnomAD v4
16g.3729024A>CCA394554556CREBBPc.6023T>G (p.Val2008Gly)
c.5909T>G (p.Val1970Gly)
c.5978T>G (p.Val1993Gly)
c.5606T>G (p.Val1869Gly)
c.5762T>G (p.Val1921Gly)
c.5969T>G (p.Val1990Gly)
c.5270T>G (p.Val1757Gly)
c.6017T>G (p.Val2006Gly)
dbSNP
16g.3729024A>GCA394554557CREBBPc.6023T>C (p.Val2008Ala)
c.5909T>C (p.Val1970Ala)
c.5978T>C (p.Val1993Ala)
c.5606T>C (p.Val1869Ala)
c.5762T>C (p.Val1921Ala)
c.5969T>C (p.Val1990Ala)
c.5270T>C (p.Val1757Ala)
c.6017T>C (p.Val2006Ala)
dbSNP
16g.3729024A>TCA394554558CREBBPc.6023T>A (p.Val2008Glu)
c.5909T>A (p.Val1970Glu)
c.5978T>A (p.Val1993Glu)
c.5606T>A (p.Val1869Glu)
c.5762T>A (p.Val1921Glu)
c.5969T>A (p.Val1990Glu)
c.5270T>A (p.Val1757Glu)
c.6017T>A (p.Val2006Glu)
dbSNP
16g.3729025C>ACA394554560CREBBPc.6022G>T (p.Val2008Leu)
c.5908G>T (p.Val1970Leu)
c.5977G>T (p.Val1993Leu)
c.5605G>T (p.Val1869Leu)
c.5761G>T (p.Val1921Leu)
c.5968G>T (p.Val1990Leu)
c.5269G>T (p.Val1757Leu)
c.6016G>T (p.Val2006Leu)
16g.3729025C=CA2202916170CREBBPc.6022G= (p.Val2008=)
c.5908G= (p.Val1970=)
c.5977G= (p.Val1993=)
c.5605G= (p.Val1869=)
c.5761G= (p.Val1921=)
c.5968G= (p.Val1990=)
c.5269G= (p.Val1757=)
c.6016G= (p.Val2006=)
16g.3729025C>GCA394554561CREBBPc.6022G>C (p.Val2008Leu)
c.5908G>C (p.Val1970Leu)
c.5977G>C (p.Val1993Leu)
c.5605G>C (p.Val1869Leu)
c.5761G>C (p.Val1921Leu)
c.5968G>C (p.Val1990Leu)
c.5269G>C (p.Val1757Leu)
c.6016G>C (p.Val2006Leu)
dbSNP
16g.3729025C>TCA394554563CREBBPc.6022G>A (p.Val2008Met)
c.5908G>A (p.Val1970Met)
c.5977G>A (p.Val1993Met)
c.5605G>A (p.Val1869Met)
c.5761G>A (p.Val1921Met)
c.5968G>A (p.Val1990Met)
c.5269G>A (p.Val1757Met)
c.6016G>A (p.Val2006Met)
dbSNP gnomAD v2 gnomAD v4
16g.3729026C>ACA394554565CREBBPc.6021G>T (p.Gln2007His)
c.5907G>T (p.Gln1969His)
c.5976G>T (p.Gln1992His)
c.5604G>T (p.Gln1868His)
c.5760G>T (p.Gln1920His)
c.5967G>T (p.Gln1989His)
c.5268G>T (p.Gln1756His)
c.6015G>T (p.Gln2005His)
dbSNP gnomAD v4
16g.3729026C=CA2202916171CREBBPc.6021G= (p.Gln2007=)
c.5907G= (p.Gln1969=)
c.5976G= (p.Gln1992=)
c.5604G= (p.Gln1868=)
c.5760G= (p.Gln1920=)
c.5967G= (p.Gln1989=)
c.5268G= (p.Gln1756=)
c.6015G= (p.Gln2005=)
16g.3729026C>GCA394554566CREBBPc.6021G>C (p.Gln2007His)
c.5907G>C (p.Gln1969His)
c.5976G>C (p.Gln1992His)
c.5604G>C (p.Gln1868His)
c.5760G>C (p.Gln1920His)
c.5967G>C (p.Gln1989His)
c.5268G>C (p.Gln1756His)
c.6015G>C (p.Gln2005His)
dbSNP
16g.3729026C>TCA493394174CREBBPc.6021G>A (p.Gln2007=)
c.5907G>A (p.Gln1969=)
c.5976G>A (p.Gln1992=)
c.5604G>A (p.Gln1868=)
c.5760G>A (p.Gln1920=)
c.5967G>A (p.Gln1989=)
c.5268G>A (p.Gln1756=)
c.6015G>A (p.Gln2005=)
dbSNP gnomAD v3 gnomAD v4
16g.3729027T>ACA394554570CREBBPc.6020A>T (p.Gln2007Leu)
c.5906A>T (p.Gln1969Leu)
c.5975A>T (p.Gln1992Leu)
c.5603A>T (p.Gln1868Leu)
c.5759A>T (p.Gln1920Leu)
c.5966A>T (p.Gln1989Leu)
c.5267A>T (p.Gln1756Leu)
c.6014A>T (p.Gln2005Leu)
16g.3729027T>CCA394554573CREBBPc.6020A>G (p.Gln2007Arg)
c.5906A>G (p.Gln1969Arg)
c.5975A>G (p.Gln1992Arg)
c.5603A>G (p.Gln1868Arg)
c.5759A>G (p.Gln1920Arg)
c.5966A>G (p.Gln1989Arg)
c.5267A>G (p.Gln1756Arg)
c.6014A>G (p.Gln2005Arg)
16g.3729027T>GCA394554572CREBBPc.6020A>C (p.Gln2007Pro)
c.5906A>C (p.Gln1969Pro)
c.5975A>C (p.Gln1992Pro)
c.5603A>C (p.Gln1868Pro)
c.5759A>C (p.Gln1920Pro)
c.5966A>C (p.Gln1989Pro)
c.5267A>C (p.Gln1756Pro)
c.6014A>C (p.Gln2005Pro)
16g.3729028G>ACA394554575CREBBPc.6019C>T (p.Gln2007Ter)
c.5905C>T (p.Gln1969Ter)
c.5974C>T (p.Gln1992Ter)
c.5602C>T (p.Gln1868Ter)
c.5758C>T (p.Gln1920Ter)
c.5965C>T (p.Gln1989Ter)
c.5266C>T (p.Gln1756Ter)
c.6013C>T (p.Gln2005Ter)
dbSNP gnomAD v4
16g.3729028G>CCA394554579CREBBPc.6019C>G (p.Gln2007Glu)
c.5905C>G (p.Gln1969Glu)
c.5974C>G (p.Gln1992Glu)
c.5602C>G (p.Gln1868Glu)
c.5758C>G (p.Gln1920Glu)
c.5965C>G (p.Gln1989Glu)
c.5266C>G (p.Gln1756Glu)
c.6013C>G (p.Gln2005Glu)
dbSNP
16g.3729028G>TCA394554577CREBBPc.6019C>A (p.Gln2007Lys)
c.5905C>A (p.Gln1969Lys)
c.5974C>A (p.Gln1992Lys)
c.5602C>A (p.Gln1868Lys)
c.5758C>A (p.Gln1920Lys)
c.5965C>A (p.Gln1989Lys)
c.5266C>A (p.Gln1756Lys)
c.6013C>A (p.Gln2005Lys)
gnomAD v4
16g.3729029G>ACA493394178CREBBPc.6018C>T (p.Asn2006=)
c.5904C>T (p.Asn1968=)
c.5973C>T (p.Asn1991=)
c.5601C>T (p.Asn1867=)
c.5757C>T (p.Asn1919=)
c.5964C>T (p.Asn1988=)
c.5265C>T (p.Asn1755=)
c.6012C>T (p.Asn2004=)
dbSNP
16g.3729029G>CCA394554581CREBBPc.6018C>G (p.Asn2006Lys)
c.5904C>G (p.Asn1968Lys)
c.5973C>G (p.Asn1991Lys)
c.5601C>G (p.Asn1867Lys)
c.5757C>G (p.Asn1919Lys)
c.5964C>G (p.Asn1988Lys)
c.5265C>G (p.Asn1755Lys)
c.6012C>G (p.Asn2004Lys)
dbSNP
16g.3729029G>TCA394554582CREBBPc.6018C>A (p.Asn2006Lys)
c.5904C>A (p.Asn1968Lys)
c.5973C>A (p.Asn1991Lys)
c.5601C>A (p.Asn1867Lys)
c.5757C>A (p.Asn1919Lys)
c.5964C>A (p.Asn1988Lys)
c.5265C>A (p.Asn1755Lys)
c.6012C>A (p.Asn2004Lys)
dbSNP gnomAD v4
16g.3729030T>ACA394554586CREBBPc.6017A>T (p.Asn2006Ile)
c.5903A>T (p.Asn1968Ile)
c.5972A>T (p.Asn1991Ile)
c.5600A>T (p.Asn1867Ile)
c.5756A>T (p.Asn1919Ile)
c.5963A>T (p.Asn1988Ile)
c.5264A>T (p.Asn1755Ile)
c.6011A>T (p.Asn2004Ile)
dbSNP
16g.3729030T>CCA394554587CREBBPc.6017A>G (p.Asn2006Ser)
c.5903A>G (p.Asn1968Ser)
c.5972A>G (p.Asn1991Ser)
c.5600A>G (p.Asn1867Ser)
c.5756A>G (p.Asn1919Ser)
c.5963A>G (p.Asn1988Ser)
c.5264A>G (p.Asn1755Ser)
c.6011A>G (p.Asn2004Ser)
dbSNP gnomAD v3 gnomAD v4
16g.3729030T>GCA394554589CREBBPc.6017A>C (p.Asn2006Thr)
c.5903A>C (p.Asn1968Thr)
c.5972A>C (p.Asn1991Thr)
c.5600A>C (p.Asn1867Thr)
c.5756A>C (p.Asn1919Thr)
c.5963A>C (p.Asn1988Thr)
c.5264A>C (p.Asn1755Thr)
c.6011A>C (p.Asn2004Thr)
dbSNP
16g.3729030T=CA2202916172CREBBPc.6017A= (p.Asn2006=)
c.5903A= (p.Asn1968=)
c.5972A= (p.Asn1991=)
c.5600A= (p.Asn1867=)
c.5756A= (p.Asn1919=)
c.5963A= (p.Asn1988=)
c.5264A= (p.Asn1755=)
c.6011A= (p.Asn2004=)
16g.3729031T>ACA394554591CREBBPc.6016A>T (p.Asn2006Tyr)
c.5902A>T (p.Asn1968Tyr)
c.5971A>T (p.Asn1991Tyr)
c.5599A>T (p.Asn1867Tyr)
c.5755A>T (p.Asn1919Tyr)
c.5962A>T (p.Asn1988Tyr)
c.5263A>T (p.Asn1755Tyr)
c.6010A>T (p.Asn2004Tyr)
dbSNP
16g.3729031T>CCA394554593CREBBPc.6016A>G (p.Asn2006Asp)
c.5902A>G (p.Asn1968Asp)
c.5971A>G (p.Asn1991Asp)
c.5599A>G (p.Asn1867Asp)
c.5755A>G (p.Asn1919Asp)
c.5962A>G (p.Asn1988Asp)
c.5263A>G (p.Asn1755Asp)
c.6010A>G (p.Asn2004Asp)
16g.3729031T>GCA394554595CREBBPc.6016A>C (p.Asn2006His)
c.5902A>C (p.Asn1968His)
c.5971A>C (p.Asn1991His)
c.5599A>C (p.Asn1867His)
c.5755A>C (p.Asn1919His)
c.5962A>C (p.Asn1988His)
c.5263A>C (p.Asn1755His)
c.6010A>C (p.Asn2004His)
dbSNP
16g.3729032G>ACA493394180CREBBPc.6015C>T (p.Pro2005=)
c.5901C>T (p.Pro1967=)
c.5970C>T (p.Pro1990=)
c.5598C>T (p.Pro1866=)
c.5754C>T (p.Pro1918=)
c.5961C>T (p.Pro1987=)
c.5262C>T (p.Pro1754=)
c.6009C>T (p.Pro2003=)
dbSNP gnomAD v3 gnomAD v4
16g.3729032G>CCA493394181CREBBPc.6015C>G (p.Pro2005=)
c.5901C>G (p.Pro1967=)
c.5970C>G (p.Pro1990=)
c.5598C>G (p.Pro1866=)
c.5754C>G (p.Pro1918=)
c.5961C>G (p.Pro1987=)
c.5262C>G (p.Pro1754=)
c.6009C>G (p.Pro2003=)
16g.3729032G=CA2202916173CREBBPc.6015C= (p.Pro2005=)
c.5901C= (p.Pro1967=)
c.5970C= (p.Pro1990=)
c.5598C= (p.Pro1866=)
c.5754C= (p.Pro1918=)
c.5961C= (p.Pro1987=)
c.5262C= (p.Pro1754=)
c.6009C= (p.Pro2003=)
16g.3729032G>TCA493394182CREBBPc.6015C>A (p.Pro2005=)
c.5901C>A (p.Pro1967=)
c.5970C>A (p.Pro1990=)
c.5598C>A (p.Pro1866=)
c.5754C>A (p.Pro1918=)
c.5961C>A (p.Pro1987=)
c.5262C>A (p.Pro1754=)
c.6009C>A (p.Pro2003=)
gnomAD v4
16g.3729033G>ACA394554598CREBBPc.6014C>T (p.Pro2005Leu)
c.5900C>T (p.Pro1967Leu)
c.5969C>T (p.Pro1990Leu)
c.5597C>T (p.Pro1866Leu)
c.5753C>T (p.Pro1918Leu)
c.5960C>T (p.Pro1987Leu)
c.5261C>T (p.Pro1754Leu)
c.6008C>T (p.Pro2003Leu)
dbSNP gnomAD v4
16g.3729033G>CCA394554600CREBBPc.6014C>G (p.Pro2005Arg)
c.5900C>G (p.Pro1967Arg)
c.5969C>G (p.Pro1990Arg)
c.5597C>G (p.Pro1866Arg)
c.5753C>G (p.Pro1918Arg)
c.5960C>G (p.Pro1987Arg)
c.5261C>G (p.Pro1754Arg)
c.6008C>G (p.Pro2003Arg)
ClinVar dbSNP
16g.3729033G>TCA394554603CREBBPc.6014C>A (p.Pro2005His)
c.5900C>A (p.Pro1967His)
c.5969C>A (p.Pro1990His)
c.5597C>A (p.Pro1866His)
c.5753C>A (p.Pro1918His)
c.5960C>A (p.Pro1987His)
c.5261C>A (p.Pro1754His)
c.6008C>A (p.Pro2003His)
gnomAD v4
16g.3729034G>ACA394554605CREBBPc.6013C>T (p.Pro2005Ser)
c.5899C>T (p.Pro1967Ser)
c.5968C>T (p.Pro1990Ser)
c.5596C>T (p.Pro1866Ser)
c.5752C>T (p.Pro1918Ser)
c.5959C>T (p.Pro1987Ser)
c.5260C>T (p.Pro1754Ser)
c.6007C>T (p.Pro2003Ser)
ClinVar dbSNP
16g.3729034G>CCA394554607CREBBPc.6013C>G (p.Pro2005Ala)
c.5899C>G (p.Pro1967Ala)
c.5968C>G (p.Pro1990Ala)
c.5596C>G (p.Pro1866Ala)
c.5752C>G (p.Pro1918Ala)
c.5959C>G (p.Pro1987Ala)
c.5260C>G (p.Pro1754Ala)
c.6007C>G (p.Pro2003Ala)
dbSNP
16g.3729034G>TCA394554608CREBBPc.6013C>A (p.Pro2005Thr)
c.5899C>A (p.Pro1967Thr)
c.5968C>A (p.Pro1990Thr)
c.5596C>A (p.Pro1866Thr)
c.5752C>A (p.Pro1918Thr)
c.5959C>A (p.Pro1987Thr)
c.5260C>A (p.Pro1754Thr)
c.6007C>A (p.Pro2003Thr)
ClinVar gnomAD v4
16g.3729035T>ACA493394184CREBBPc.6012A>T (p.Arg2004=)
c.5898A>T (p.Arg1966=)
c.5967A>T (p.Arg1989=)
c.5595A>T (p.Arg1865=)
c.5751A>T (p.Arg1917=)
c.5958A>T (p.Arg1986=)
c.5259A>T (p.Arg1753=)
c.6006A>T (p.Arg2002=)
dbSNP COSMIC
16g.3729035T>CCA493394185CREBBPc.6012A>G (p.Arg2004=)
c.5898A>G (p.Arg1966=)
c.5967A>G (p.Arg1989=)
c.5595A>G (p.Arg1865=)
c.5751A>G (p.Arg1917=)
c.5958A>G (p.Arg1986=)
c.5259A>G (p.Arg1753=)
c.6006A>G (p.Arg2002=)
dbSNP gnomAD v4
16g.3729035T>GCA493394186CREBBPc.6012A>C (p.Arg2004=)
c.5898A>C (p.Arg1966=)
c.5967A>C (p.Arg1989=)
c.5595A>C (p.Arg1865=)
c.5751A>C (p.Arg1917=)
c.5958A>C (p.Arg1986=)
c.5259A>C (p.Arg1753=)
c.6006A>C (p.Arg2002=)
dbSNP
16g.3729035T=CA2202916174CREBBPc.6012A= (p.Arg2004=)
c.5898A= (p.Arg1966=)
c.5967A= (p.Arg1989=)
c.5595A= (p.Arg1865=)
c.5751A= (p.Arg1917=)
c.5958A= (p.Arg1986=)
c.5259A= (p.Arg1753=)
c.6006A= (p.Arg2002=)
16g.3729036C>ACA394554614CREBBPc.6011G>T (p.Arg2004Leu)
c.5897G>T (p.Arg1966Leu)
c.5966G>T (p.Arg1989Leu)
c.5594G>T (p.Arg1865Leu)
c.5750G>T (p.Arg1917Leu)
c.5957G>T (p.Arg1986Leu)
c.5258G>T (p.Arg1753Leu)
c.6005G>T (p.Arg2002Leu)
dbSNP gnomAD v4
16g.3729036C=CA2202916175CREBBPc.6011G= (p.Arg2004=)
c.5897G= (p.Arg1966=)
c.5966G= (p.Arg1989=)
c.5594G= (p.Arg1865=)
c.5750G= (p.Arg1917=)
c.5957G= (p.Arg1986=)
c.5258G= (p.Arg1753=)
c.6005G= (p.Arg2002=)
16g.3729036C>GCA394554610CREBBPc.6011G>C (p.Arg2004Pro)
c.5897G>C (p.Arg1966Pro)
c.5966G>C (p.Arg1989Pro)
c.5594G>C (p.Arg1865Pro)
c.5750G>C (p.Arg1917Pro)
c.5957G>C (p.Arg1986Pro)
c.5258G>C (p.Arg1753Pro)
c.6005G>C (p.Arg2002Pro)
16g.3729036C>TCA394554612CREBBPc.6011G>A (p.Arg2004Gln)
c.5897G>A (p.Arg1966Gln)
c.5966G>A (p.Arg1989Gln)
c.5594G>A (p.Arg1865Gln)
c.5750G>A (p.Arg1917Gln)
c.5957G>A (p.Arg1986Gln)
c.5258G>A (p.Arg1753Gln)
c.6005G>A (p.Arg2002Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729037G>ACA10588617CREBBPc.6010C>T (p.Arg2004Ter)
c.5896C>T (p.Arg1966Ter)
c.5965C>T (p.Arg1989Ter)
c.5593C>T (p.Arg1865Ter)
c.5749C>T (p.Arg1917Ter)
c.5956C>T (p.Arg1986Ter)
c.5257C>T (p.Arg1753Ter)
c.6004C>T (p.Arg2002Ter)
ClinVar dbSNP gnomAD v4
16g.3729037G>CCA394554617CREBBPc.6010C>G (p.Arg2004Gly)
c.5896C>G (p.Arg1966Gly)
c.5965C>G (p.Arg1989Gly)
c.5593C>G (p.Arg1865Gly)
c.5749C>G (p.Arg1917Gly)
c.5956C>G (p.Arg1986Gly)
c.5257C>G (p.Arg1753Gly)
c.6004C>G (p.Arg2002Gly)
16g.3729037G=CA2202916176CREBBPc.6010C= (p.Arg2004=)
c.5896C= (p.Arg1966=)
c.5965C= (p.Arg1989=)
c.5593C= (p.Arg1865=)
c.5749C= (p.Arg1917=)
c.5956C= (p.Arg1986=)
c.5257C= (p.Arg1753=)
c.6004C= (p.Arg2002=)
16g.3729037G>TCA493394187CREBBPc.6010C>A (p.Arg2004=)
c.5896C>A (p.Arg1966=)
c.5965C>A (p.Arg1989=)
c.5593C>A (p.Arg1865=)
c.5749C>A (p.Arg1917=)
c.5956C>A (p.Arg1986=)
c.5257C>A (p.Arg1753=)
c.6004C>A (p.Arg2002=)
gnomAD v4
16g.3729038G>ACA493394188CREBBPc.6009C>T (p.Pro2003=)
c.5895C>T (p.Pro1965=)
c.5964C>T (p.Pro1988=)
c.5592C>T (p.Pro1864=)
c.5748C>T (p.Pro1916=)
c.5955C>T (p.Pro1985=)
c.5256C>T (p.Pro1752=)
c.6003C>T (p.Pro2001=)
dbSNP gnomAD v4
16g.3729038G>CCA493394189CREBBPc.6009C>G (p.Pro2003=)
c.5895C>G (p.Pro1965=)
c.5964C>G (p.Pro1988=)
c.5592C>G (p.Pro1864=)
c.5748C>G (p.Pro1916=)
c.5955C>G (p.Pro1985=)
c.5256C>G (p.Pro1752=)
c.6003C>G (p.Pro2001=)
dbSNP gnomAD v2
16g.3729038G=CA2202916177CREBBPc.6009C= (p.Pro2003=)
c.5895C= (p.Pro1965=)
c.5964C= (p.Pro1988=)
c.5592C= (p.Pro1864=)
c.5748C= (p.Pro1916=)
c.5955C= (p.Pro1985=)
c.5256C= (p.Pro1752=)
c.6003C= (p.Pro2001=)
16g.3729038G>TCA493394190CREBBPc.6009C>A (p.Pro2003=)
c.5895C>A (p.Pro1965=)
c.5964C>A (p.Pro1988=)
c.5592C>A (p.Pro1864=)
c.5748C>A (p.Pro1916=)
c.5955C>A (p.Pro1985=)
c.5256C>A (p.Pro1752=)
c.6003C>A (p.Pro2001=)
dbSNP gnomAD v4
16g.3729039G>ACA394554619CREBBPc.6008C>T (p.Pro2003Leu)
c.5894C>T (p.Pro1965Leu)
c.5963C>T (p.Pro1988Leu)
c.5591C>T (p.Pro1864Leu)
c.5747C>T (p.Pro1916Leu)
c.5954C>T (p.Pro1985Leu)
c.5255C>T (p.Pro1752Leu)
c.6002C>T (p.Pro2001Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729039G>CCA394554621CREBBPc.6008C>G (p.Pro2003Arg)
c.5894C>G (p.Pro1965Arg)
c.5963C>G (p.Pro1988Arg)
c.5591C>G (p.Pro1864Arg)
c.5747C>G (p.Pro1916Arg)
c.5954C>G (p.Pro1985Arg)
c.5255C>G (p.Pro1752Arg)
c.6002C>G (p.Pro2001Arg)
16g.3729039G=CA2202916178CREBBPc.6008C= (p.Pro2003=)
c.5894C= (p.Pro1965=)
c.5963C= (p.Pro1988=)
c.5591C= (p.Pro1864=)
c.5747C= (p.Pro1916=)
c.5954C= (p.Pro1985=)
c.5255C= (p.Pro1752=)
c.6002C= (p.Pro2001=)
16g.3729039G>TCA394554623CREBBPc.6008C>A (p.Pro2003His)
c.5894C>A (p.Pro1965His)
c.5963C>A (p.Pro1988His)
c.5591C>A (p.Pro1864His)
c.5747C>A (p.Pro1916His)
c.5954C>A (p.Pro1985His)
c.5255C>A (p.Pro1752His)
c.6002C>A (p.Pro2001His)
dbSNP gnomAD v4
16g.3729040G>ACA394554626CREBBPc.6007C>T (p.Pro2003Ser)
c.5893C>T (p.Pro1965Ser)
c.5962C>T (p.Pro1988Ser)
c.5590C>T (p.Pro1864Ser)
c.5746C>T (p.Pro1916Ser)
c.5953C>T (p.Pro1985Ser)
c.5254C>T (p.Pro1752Ser)
c.6001C>T (p.Pro2001Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3729040G>CCA394554628CREBBPc.6007C>G (p.Pro2003Ala)
c.5893C>G (p.Pro1965Ala)
c.5962C>G (p.Pro1988Ala)
c.5590C>G (p.Pro1864Ala)
c.5746C>G (p.Pro1916Ala)
c.5953C>G (p.Pro1985Ala)
c.5254C>G (p.Pro1752Ala)
c.6001C>G (p.Pro2001Ala)
dbSNP
16g.3729040G=CA2202916179CREBBPc.6007C= (p.Pro2003=)
c.5893C= (p.Pro1965=)
c.5962C= (p.Pro1988=)
c.5590C= (p.Pro1864=)
c.5746C= (p.Pro1916=)
c.5953C= (p.Pro1985=)
c.5254C= (p.Pro1752=)
c.6001C= (p.Pro2001=)
16g.3729040G>TCA394554631CREBBPc.6007C>A (p.Pro2003Thr)
c.5893C>A (p.Pro1965Thr)
c.5962C>A (p.Pro1988Thr)
c.5590C>A (p.Pro1864Thr)
c.5746C>A (p.Pro1916Thr)
c.5953C>A (p.Pro1985Thr)
c.5254C>A (p.Pro1752Thr)
c.6001C>A (p.Pro2001Thr)
dbSNP gnomAD v4
16g.3729041C>ACA7869200CREBBPc.6006G>T (p.Val2002=)
c.5892G>T (p.Val1964=)
c.5961G>T (p.Val1987=)
c.5589G>T (p.Val1863=)
c.5745G>T (p.Val1915=)
c.5952G>T (p.Val1984=)
c.5253G>T (p.Val1751=)
c.6000G>T (p.Val2000=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729041C=CA2202916180CREBBPc.6006G= (p.Val2002=)
c.5892G= (p.Val1964=)
c.5961G= (p.Val1987=)
c.5589G= (p.Val1863=)
c.5745G= (p.Val1915=)
c.5952G= (p.Val1984=)
c.5253G= (p.Val1751=)
c.6000G= (p.Val2000=)
16g.3729041C>GCA493394194CREBBPc.6006G>C (p.Val2002=)
c.5892G>C (p.Val1964=)
c.5961G>C (p.Val1987=)
c.5589G>C (p.Val1863=)
c.5745G>C (p.Val1915=)
c.5952G>C (p.Val1984=)
c.5253G>C (p.Val1751=)
c.6000G>C (p.Val2000=)
16g.3729041C>TCA493394195CREBBPc.6006G>A (p.Val2002=)
c.5892G>A (p.Val1964=)
c.5961G>A (p.Val1987=)
c.5589G>A (p.Val1863=)
c.5745G>A (p.Val1915=)
c.5952G>A (p.Val1984=)
c.5253G>A (p.Val1751=)
c.6000G>A (p.Val2000=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729043_3729044delCA2573102957CREBBPc.6005_6006del (p.Val2002AlafsTer?)
c.5891_5892del (p.Val1964AlafsTer?)
c.5960_5961del (p.Val1987AlafsTer?)
c.5588_5589del (p.Val1863AlafsTer?)
c.5744_5745del (p.Val1915AlafsTer?)
c.5951_5952del (p.Val1984AlafsTer?)
c.5252_5253del (p.Val1751AlafsTer?)
c.5999_6000del (p.Val2000AlafsTer?)
ClinVar
16g.3729042A=CA2202916181CREBBPc.6005T= (p.Val2002=)
c.5891T= (p.Val1964=)
c.5960T= (p.Val1987=)
c.5588T= (p.Val1863=)
c.5744T= (p.Val1915=)
c.5951T= (p.Val1984=)
c.5252T= (p.Val1751=)
c.5999T= (p.Val2000=)
16g.3729042A>CCA394554635CREBBPc.6005T>G (p.Val2002Gly)
c.5891T>G (p.Val1964Gly)
c.5960T>G (p.Val1987Gly)
c.5588T>G (p.Val1863Gly)
c.5744T>G (p.Val1915Gly)
c.5951T>G (p.Val1984Gly)
c.5252T>G (p.Val1751Gly)
c.5999T>G (p.Val2000Gly)
dbSNP
16g.3729042A>GCA394554636CREBBPc.6005T>C (p.Val2002Ala)
c.5891T>C (p.Val1964Ala)
c.5960T>C (p.Val1987Ala)
c.5588T>C (p.Val1863Ala)
c.5744T>C (p.Val1915Ala)
c.5951T>C (p.Val1984Ala)
c.5252T>C (p.Val1751Ala)
c.5999T>C (p.Val2000Ala)
dbSNP
16g.3729042A>TCA394554638CREBBPc.6005T>A (p.Val2002Glu)
c.5891T>A (p.Val1964Glu)
c.5960T>A (p.Val1987Glu)
c.5588T>A (p.Val1863Glu)
c.5744T>A (p.Val1915Glu)
c.5951T>A (p.Val1984Glu)
c.5252T>A (p.Val1751Glu)
c.5999T>A (p.Val2000Glu)
dbSNP gnomAD v4
16g.3729043C>ACA394554643CREBBPc.6004G>T (p.Val2002Leu)
c.5890G>T (p.Val1964Leu)
c.5959G>T (p.Val1987Leu)
c.5587G>T (p.Val1863Leu)
c.5743G>T (p.Val1915Leu)
c.5950G>T (p.Val1984Leu)
c.5251G>T (p.Val1751Leu)
c.5998G>T (p.Val2000Leu)
16g.3729043C=CA2202916182CREBBPc.6004G= (p.Val2002=)
c.5890G= (p.Val1964=)
c.5959G= (p.Val1987=)
c.5587G= (p.Val1863=)
c.5743G= (p.Val1915=)
c.5950G= (p.Val1984=)
c.5251G= (p.Val1751=)
c.5998G= (p.Val2000=)
16g.3729043C>GCA394554642CREBBPc.6004G>C (p.Val2002Leu)
c.5890G>C (p.Val1964Leu)
c.5959G>C (p.Val1987Leu)
c.5587G>C (p.Val1863Leu)
c.5743G>C (p.Val1915Leu)
c.5950G>C (p.Val1984Leu)
c.5251G>C (p.Val1751Leu)
c.5998G>C (p.Val2000Leu)
16g.3729043C>TCA394554640CREBBPc.6004G>A (p.Val2002Met)
c.5890G>A (p.Val1964Met)
c.5959G>A (p.Val1987Met)
c.5587G>A (p.Val1863Met)
c.5743G>A (p.Val1915Met)
c.5950G>A (p.Val1984Met)
c.5251G>A (p.Val1751Met)
c.5998G>A (p.Val2000Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729044A=CA2202916183CREBBPc.6003T= (p.Asn2001=)
c.5889T= (p.Asn1963=)
c.5958T= (p.Asn1986=)
c.5586T= (p.Asn1862=)
c.5742T= (p.Asn1914=)
c.5949T= (p.Asn1983=)
c.5250T= (p.Asn1750=)
c.5997T= (p.Asn1999=)
16g.3729044A>CCA394554648CREBBPc.6003T>G (p.Asn2001Lys)
c.5889T>G (p.Asn1963Lys)
c.5958T>G (p.Asn1986Lys)
c.5586T>G (p.Asn1862Lys)
c.5742T>G (p.Asn1914Lys)
c.5949T>G (p.Asn1983Lys)
c.5250T>G (p.Asn1750Lys)
c.5997T>G (p.Asn1999Lys)
dbSNP
16g.3729044A>GCA148136CREBBPc.6003T>C (p.Asn2001=)
c.5889T>C (p.Asn1963=)
c.5958T>C (p.Asn1986=)
c.5586T>C (p.Asn1862=)
c.5742T>C (p.Asn1914=)
c.5949T>C (p.Asn1983=)
c.5250T>C (p.Asn1750=)
c.5997T>C (p.Asn1999=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729044A>TCA394554646CREBBPc.6003T>A (p.Asn2001Lys)
c.5889T>A (p.Asn1963Lys)
c.5958T>A (p.Asn1986Lys)
c.5586T>A (p.Asn1862Lys)
c.5742T>A (p.Asn1914Lys)
c.5949T>A (p.Asn1983Lys)
c.5250T>A (p.Asn1750Lys)
c.5997T>A (p.Asn1999Lys)
dbSNP
16g.3729045T>ACA394554650CREBBPc.6002A>T (p.Asn2001Ile)
c.5888A>T (p.Asn1963Ile)
c.5957A>T (p.Asn1986Ile)
c.5585A>T (p.Asn1862Ile)
c.5741A>T (p.Asn1914Ile)
c.5948A>T (p.Asn1983Ile)
c.5249A>T (p.Asn1750Ile)
c.5996A>T (p.Asn1999Ile)
16g.3729045T>CCA394554652CREBBPc.6002A>G (p.Asn2001Ser)
c.5888A>G (p.Asn1963Ser)
c.5957A>G (p.Asn1986Ser)
c.5585A>G (p.Asn1862Ser)
c.5741A>G (p.Asn1914Ser)
c.5948A>G (p.Asn1983Ser)
c.5249A>G (p.Asn1750Ser)
c.5996A>G (p.Asn1999Ser)
dbSNP
16g.3729045T>GCA394554654CREBBPc.6002A>C (p.Asn2001Thr)
c.5888A>C (p.Asn1963Thr)
c.5957A>C (p.Asn1986Thr)
c.5585A>C (p.Asn1862Thr)
c.5741A>C (p.Asn1914Thr)
c.5948A>C (p.Asn1983Thr)
c.5249A>C (p.Asn1750Thr)
c.5996A>C (p.Asn1999Thr)
16g.3729046T>ACA394554656CREBBPc.6001A>T (p.Asn2001Tyr)
c.5887A>T (p.Asn1963Tyr)
c.5956A>T (p.Asn1986Tyr)
c.5584A>T (p.Asn1862Tyr)
c.5740A>T (p.Asn1914Tyr)
c.5947A>T (p.Asn1983Tyr)
c.5248A>T (p.Asn1750Tyr)
c.5995A>T (p.Asn1999Tyr)
dbSNP
16g.3729046T>CCA394554658CREBBPc.6001A>G (p.Asn2001Asp)
c.5887A>G (p.Asn1963Asp)
c.5956A>G (p.Asn1986Asp)
c.5584A>G (p.Asn1862Asp)
c.5740A>G (p.Asn1914Asp)
c.5947A>G (p.Asn1983Asp)
c.5248A>G (p.Asn1750Asp)
c.5995A>G (p.Asn1999Asp)
dbSNP gnomAD v4
16g.3729046T>GCA394554659CREBBPc.6001A>C (p.Asn2001His)
c.5887A>C (p.Asn1963His)
c.5956A>C (p.Asn1986His)
c.5584A>C (p.Asn1862His)
c.5740A>C (p.Asn1914His)
c.5947A>C (p.Asn1983His)
c.5248A>C (p.Asn1750His)
c.5995A>C (p.Asn1999His)
dbSNP gnomAD v2 gnomAD v4
16g.3729046T=CA2202916184CREBBPc.6001A= (p.Asn2001=)
c.5887A= (p.Asn1963=)
c.5956A= (p.Asn1986=)
c.5584A= (p.Asn1862=)
c.5740A= (p.Asn1914=)
c.5947A= (p.Asn1983=)
c.5248A= (p.Asn1750=)
c.5995A= (p.Asn1999=)
16g.3729047C>ACA493394204CREBBPc.6000G>T (p.Leu2000=)
c.5886G>T (p.Leu1962=)
c.5955G>T (p.Leu1985=)
c.5583G>T (p.Leu1861=)
c.5739G>T (p.Leu1913=)
c.5946G>T (p.Leu1982=)
c.5247G>T (p.Leu1749=)
c.5994G>T (p.Leu1998=)
dbSNP gnomAD v4
16g.3729047C=CA2202916185CREBBPc.6000G= (p.Leu2000=)
c.5886G= (p.Leu1962=)
c.5955G= (p.Leu1985=)
c.5583G= (p.Leu1861=)
c.5739G= (p.Leu1913=)
c.5946G= (p.Leu1982=)
c.5247G= (p.Leu1749=)
c.5994G= (p.Leu1998=)
16g.3729047C>GCA493394207CREBBPc.6000G>C (p.Leu2000=)
c.5886G>C (p.Leu1962=)
c.5955G>C (p.Leu1985=)
c.5583G>C (p.Leu1861=)
c.5739G>C (p.Leu1913=)
c.5946G>C (p.Leu1982=)
c.5247G>C (p.Leu1749=)
c.5994G>C (p.Leu1998=)
dbSNP gnomAD v2 gnomAD v4
16g.3729047C>TCA493394205CREBBPc.6000G>A (p.Leu2000=)
c.5886G>A (p.Leu1962=)
c.5955G>A (p.Leu1985=)
c.5583G>A (p.Leu1861=)
c.5739G>A (p.Leu1913=)
c.5946G>A (p.Leu1982=)
c.5247G>A (p.Leu1749=)
c.5994G>A (p.Leu1998=)
dbSNP gnomAD v4
16g.3729048A>CCA394554662CREBBPc.5999T>G (p.Leu2000Arg)
c.5885T>G (p.Leu1962Arg)
c.5954T>G (p.Leu1985Arg)
c.5582T>G (p.Leu1861Arg)
c.5738T>G (p.Leu1913Arg)
c.5945T>G (p.Leu1982Arg)
c.5246T>G (p.Leu1749Arg)
c.5993T>G (p.Leu1998Arg)
16g.3729048A>GCA394554664CREBBPc.5999T>C (p.Leu2000Pro)
c.5885T>C (p.Leu1962Pro)
c.5954T>C (p.Leu1985Pro)
c.5582T>C (p.Leu1861Pro)
c.5738T>C (p.Leu1913Pro)
c.5945T>C (p.Leu1982Pro)
c.5246T>C (p.Leu1749Pro)
c.5993T>C (p.Leu1998Pro)
gnomAD v4
16g.3729048A>TCA394554665CREBBPc.5999T>A (p.Leu2000Gln)
c.5885T>A (p.Leu1962Gln)
c.5954T>A (p.Leu1985Gln)
c.5582T>A (p.Leu1861Gln)
c.5738T>A (p.Leu1913Gln)
c.5945T>A (p.Leu1982Gln)
c.5246T>A (p.Leu1749Gln)
c.5993T>A (p.Leu1998Gln)
16g.3729049G>ACA493394208CREBBPc.5998C>T (p.Leu2000=)
c.5884C>T (p.Leu1962=)
c.5953C>T (p.Leu1985=)
c.5581C>T (p.Leu1861=)
c.5737C>T (p.Leu1913=)
c.5944C>T (p.Leu1982=)
c.5245C>T (p.Leu1749=)
c.5992C>T (p.Leu1998=)
dbSNP gnomAD v2
16g.3729049G>CCA394554668CREBBPc.5998C>G (p.Leu2000Val)
c.5884C>G (p.Leu1962Val)
c.5953C>G (p.Leu1985Val)
c.5581C>G (p.Leu1861Val)
c.5737C>G (p.Leu1913Val)
c.5944C>G (p.Leu1982Val)
c.5245C>G (p.Leu1749Val)
c.5992C>G (p.Leu1998Val)
dbSNP
16g.3729049G=CA2202916186CREBBPc.5998C= (p.Leu2000=)
c.5884C= (p.Leu1962=)
c.5953C= (p.Leu1985=)
c.5581C= (p.Leu1861=)
c.5737C= (p.Leu1913=)
c.5944C= (p.Leu1982=)
c.5245C= (p.Leu1749=)
c.5992C= (p.Leu1998=)
16g.3729049G>TCA394554670CREBBPc.5998C>A (p.Leu2000Met)
c.5884C>A (p.Leu1962Met)
c.5953C>A (p.Leu1985Met)
c.5581C>A (p.Leu1861Met)
c.5737C>A (p.Leu1913Met)
c.5944C>A (p.Leu1982Met)
c.5245C>A (p.Leu1749Met)
c.5992C>A (p.Leu1998Met)
dbSNP gnomAD v4
16g.3729050G>ACA493394209CREBBPc.5997C>T (p.Ser1999=)
c.5883C>T (p.Ser1961=)
c.5952C>T (p.Ser1984=)
c.5580C>T (p.Ser1860=)
c.5736C>T (p.Ser1912=)
c.5943C>T (p.Ser1981=)
c.5244C>T (p.Ser1748=)
c.5991C>T (p.Ser1997=)
dbSNP gnomAD v2 gnomAD v4
16g.3729050G>CCA394554674CREBBPc.5997C>G (p.Ser1999Arg)
c.5883C>G (p.Ser1961Arg)
c.5952C>G (p.Ser1984Arg)
c.5580C>G (p.Ser1860Arg)
c.5736C>G (p.Ser1912Arg)
c.5943C>G (p.Ser1981Arg)
c.5244C>G (p.Ser1748Arg)
c.5991C>G (p.Ser1997Arg)
dbSNP
16g.3729050G=CA2202916187CREBBPc.5997C= (p.Ser1999=)
c.5883C= (p.Ser1961=)
c.5952C= (p.Ser1984=)
c.5580C= (p.Ser1860=)
c.5736C= (p.Ser1912=)
c.5943C= (p.Ser1981=)
c.5244C= (p.Ser1748=)
c.5991C= (p.Ser1997=)
16g.3729050G>TCA394554672CREBBPc.5997C>A (p.Ser1999Arg)
c.5883C>A (p.Ser1961Arg)
c.5952C>A (p.Ser1984Arg)
c.5580C>A (p.Ser1860Arg)
c.5736C>A (p.Ser1912Arg)
c.5943C>A (p.Ser1981Arg)
c.5244C>A (p.Ser1748Arg)
c.5991C>A (p.Ser1997Arg)
gnomAD v4
16g.3729051C>ACA394554676CREBBPc.5996G>T (p.Ser1999Ile)
c.5882G>T (p.Ser1961Ile)
c.5951G>T (p.Ser1984Ile)
c.5579G>T (p.Ser1860Ile)
c.5735G>T (p.Ser1912Ile)
c.5942G>T (p.Ser1981Ile)
c.5243G>T (p.Ser1748Ile)
c.5990G>T (p.Ser1997Ile)
dbSNP gnomAD v4
16g.3729051C=CA2202916188CREBBPc.5996G= (p.Ser1999=)
c.5882G= (p.Ser1961=)
c.5951G= (p.Ser1984=)
c.5579G= (p.Ser1860=)
c.5735G= (p.Ser1912=)
c.5942G= (p.Ser1981=)
c.5243G= (p.Ser1748=)
c.5990G= (p.Ser1997=)
16g.3729051C>GCA394554678CREBBPc.5996G>C (p.Ser1999Thr)
c.5882G>C (p.Ser1961Thr)
c.5951G>C (p.Ser1984Thr)
c.5579G>C (p.Ser1860Thr)
c.5735G>C (p.Ser1912Thr)
c.5942G>C (p.Ser1981Thr)
c.5243G>C (p.Ser1748Thr)
c.5990G>C (p.Ser1997Thr)
ClinVar dbSNP gnomAD v4
16g.3729051C>TCA394554680CREBBPc.5996G>A (p.Ser1999Asn)
c.5882G>A (p.Ser1961Asn)
c.5951G>A (p.Ser1984Asn)
c.5579G>A (p.Ser1860Asn)
c.5735G>A (p.Ser1912Asn)
c.5942G>A (p.Ser1981Asn)
c.5243G>A (p.Ser1748Asn)
c.5990G>A (p.Ser1997Asn)
dbSNP
16g.3729052T>ACA394554682CREBBPc.5995A>T (p.Ser1999Cys)
c.5881A>T (p.Ser1961Cys)
c.5950A>T (p.Ser1984Cys)
c.5578A>T (p.Ser1860Cys)
c.5734A>T (p.Ser1912Cys)
c.5941A>T (p.Ser1981Cys)
c.5242A>T (p.Ser1748Cys)
c.5989A>T (p.Ser1997Cys)
dbSNP gnomAD v4
16g.3729052T>CCA394554684CREBBPc.5995A>G (p.Ser1999Gly)
c.5881A>G (p.Ser1961Gly)
c.5950A>G (p.Ser1984Gly)
c.5578A>G (p.Ser1860Gly)
c.5734A>G (p.Ser1912Gly)
c.5941A>G (p.Ser1981Gly)
c.5242A>G (p.Ser1748Gly)
c.5989A>G (p.Ser1997Gly)
dbSNP gnomAD v4
16g.3729052T>GCA394554686CREBBPc.5995A>C (p.Ser1999Arg)
c.5881A>C (p.Ser1961Arg)
c.5950A>C (p.Ser1984Arg)
c.5578A>C (p.Ser1860Arg)
c.5734A>C (p.Ser1912Arg)
c.5941A>C (p.Ser1981Arg)
c.5242A>C (p.Ser1748Arg)
c.5989A>C (p.Ser1997Arg)
16g.3729053C>ACA493394214CREBBPc.5994G>T (p.Val1998=)
c.5880G>T (p.Val1960=)
c.5949G>T (p.Val1983=)
c.5577G>T (p.Val1859=)
c.5733G>T (p.Val1911=)
c.5940G>T (p.Val1980=)
c.5241G>T (p.Val1747=)
c.5988G>T (p.Val1996=)
gnomAD v4
16g.3729053C>GCA493394215CREBBPc.5994G>C (p.Val1998=)
c.5880G>C (p.Val1960=)
c.5949G>C (p.Val1983=)
c.5577G>C (p.Val1859=)
c.5733G>C (p.Val1911=)
c.5940G>C (p.Val1980=)
c.5241G>C (p.Val1747=)
c.5988G>C (p.Val1996=)
16g.3729053C>TCA493394216CREBBPc.5994G>A (p.Val1998=)
c.5880G>A (p.Val1960=)
c.5949G>A (p.Val1983=)
c.5577G>A (p.Val1859=)
c.5733G>A (p.Val1911=)
c.5940G>A (p.Val1980=)
c.5241G>A (p.Val1747=)
c.5988G>A (p.Val1996=)
dbSNP gnomAD v4
16g.3729054A=CA2202916189CREBBPc.5993T= (p.Val1998=)
c.5879T= (p.Val1960=)
c.5948T= (p.Val1983=)
c.5576T= (p.Val1859=)
c.5732T= (p.Val1911=)
c.5939T= (p.Val1980=)
c.5240T= (p.Val1747=)
c.5987T= (p.Val1996=)
16g.3729054A>CCA394554688CREBBPc.5993T>G (p.Val1998Gly)
c.5879T>G (p.Val1960Gly)
c.5948T>G (p.Val1983Gly)
c.5576T>G (p.Val1859Gly)
c.5732T>G (p.Val1911Gly)
c.5939T>G (p.Val1980Gly)
c.5240T>G (p.Val1747Gly)
c.5987T>G (p.Val1996Gly)
dbSNP gnomAD v2 gnomAD v4
16g.3729054A>GCA394554689CREBBPc.5993T>C (p.Val1998Ala)
c.5879T>C (p.Val1960Ala)
c.5948T>C (p.Val1983Ala)
c.5576T>C (p.Val1859Ala)
c.5732T>C (p.Val1911Ala)
c.5939T>C (p.Val1980Ala)
c.5240T>C (p.Val1747Ala)
c.5987T>C (p.Val1996Ala)
dbSNP
16g.3729054A>TCA394554691CREBBPc.5993T>A (p.Val1998Glu)
c.5879T>A (p.Val1960Glu)
c.5948T>A (p.Val1983Glu)
c.5576T>A (p.Val1859Glu)
c.5732T>A (p.Val1911Glu)
c.5939T>A (p.Val1980Glu)
c.5240T>A (p.Val1747Glu)
c.5987T>A (p.Val1996Glu)
dbSNP
16g.3729055C>ACA7869201CREBBPc.5992G>T (p.Val1998Leu)
c.5878G>T (p.Val1960Leu)
c.5947G>T (p.Val1983Leu)
c.5575G>T (p.Val1859Leu)
c.5731G>T (p.Val1911Leu)
c.5938G>T (p.Val1980Leu)
c.5239G>T (p.Val1747Leu)
c.5986G>T (p.Val1996Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729055C=CA2202916190CREBBPc.5992G= (p.Val1998=)
c.5878G= (p.Val1960=)
c.5947G= (p.Val1983=)
c.5575G= (p.Val1859=)
c.5731G= (p.Val1911=)
c.5938G= (p.Val1980=)
c.5239G= (p.Val1747=)
c.5986G= (p.Val1996=)
16g.3729055C>GCA394554694CREBBPc.5992G>C (p.Val1998Leu)
c.5878G>C (p.Val1960Leu)
c.5947G>C (p.Val1983Leu)
c.5575G>C (p.Val1859Leu)
c.5731G>C (p.Val1911Leu)
c.5938G>C (p.Val1980Leu)
c.5239G>C (p.Val1747Leu)
c.5986G>C (p.Val1996Leu)
dbSNP
16g.3729055C>TCA7869202CREBBPc.5992G>A (p.Val1998Met)
c.5878G>A (p.Val1960Met)
c.5947G>A (p.Val1983Met)
c.5575G>A (p.Val1859Met)
c.5731G>A (p.Val1911Met)
c.5938G>A (p.Val1980Met)
c.5239G>A (p.Val1747Met)
c.5986G>A (p.Val1996Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729056G>ACA7869203CREBBPc.5991C>T (p.Pro1997=)
c.5877C>T (p.Pro1959=)
c.5946C>T (p.Pro1982=)
c.5574C>T (p.Pro1858=)
c.5730C>T (p.Pro1910=)
c.5937C>T (p.Pro1979=)
c.5238C>T (p.Pro1746=)
c.5985C>T (p.Pro1995=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729056G>CCA493394220CREBBPc.5991C>G (p.Pro1997=)
c.5877C>G (p.Pro1959=)
c.5946C>G (p.Pro1982=)
c.5574C>G (p.Pro1858=)
c.5730C>G (p.Pro1910=)
c.5937C>G (p.Pro1979=)
c.5238C>G (p.Pro1746=)
c.5985C>G (p.Pro1995=)
ClinVar dbSNP
16g.3729056G=CA2202916191CREBBPc.5991C= (p.Pro1997=)
c.5877C= (p.Pro1959=)
c.5946C= (p.Pro1982=)
c.5574C= (p.Pro1858=)
c.5730C= (p.Pro1910=)
c.5937C= (p.Pro1979=)
c.5238C= (p.Pro1746=)
c.5985C= (p.Pro1995=)
16g.3729056G>TCA493394221CREBBPc.5991C>A (p.Pro1997=)
c.5877C>A (p.Pro1959=)
c.5946C>A (p.Pro1982=)
c.5574C>A (p.Pro1858=)
c.5730C>A (p.Pro1910=)
c.5937C>A (p.Pro1979=)
c.5238C>A (p.Pro1746=)
c.5985C>A (p.Pro1995=)
dbSNP gnomAD v2 gnomAD v4
16g.3729060dupCA2695222621CREBBPc.5991dup (p.Val1998ArgfsTer?)
c.5877dup (p.Val1960ArgfsTer?)
c.5946dup (p.Val1983ArgfsTer?)
c.5574dup (p.Val1859ArgfsTer?)
c.5730dup (p.Val1911ArgfsTer?)
c.5937dup (p.Val1980ArgfsTer?)
c.5238dup (p.Val1747ArgfsTer?)
c.5985dup (p.Val1996ArgfsTer?)
16g.3729060delCA1139654949CREBBPc.5991del (p.Val1998Ter)
c.5877del (p.Val1960Ter)
c.5946del (p.Val1983Ter)
c.5574del (p.Val1859Ter)
c.5730del (p.Val1911Ter)
c.5937del (p.Val1980Ter)
c.5238del (p.Val1747Ter)
c.5985del (p.Val1996Ter)
ClinVar gnomAD v4
16g.3729057G>ACA7869204CREBBPc.5990C>T (p.Pro1997Leu)
c.5876C>T (p.Pro1959Leu)
c.5945C>T (p.Pro1982Leu)
c.5573C>T (p.Pro1858Leu)
c.5729C>T (p.Pro1910Leu)
c.5936C>T (p.Pro1979Leu)
c.5237C>T (p.Pro1746Leu)
c.5984C>T (p.Pro1995Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729057G>CCA394554700CREBBPc.5990C>G (p.Pro1997Arg)
c.5876C>G (p.Pro1959Arg)
c.5945C>G (p.Pro1982Arg)
c.5573C>G (p.Pro1858Arg)
c.5729C>G (p.Pro1910Arg)
c.5936C>G (p.Pro1979Arg)
c.5237C>G (p.Pro1746Arg)
c.5984C>G (p.Pro1995Arg)
16g.3729057G=CA2202916192CREBBPc.5990C= (p.Pro1997=)
c.5876C= (p.Pro1959=)
c.5945C= (p.Pro1982=)
c.5573C= (p.Pro1858=)
c.5729C= (p.Pro1910=)
c.5936C= (p.Pro1979=)
c.5237C= (p.Pro1746=)
c.5984C= (p.Pro1995=)
16g.3729057G>TCA394554697CREBBPc.5990C>A (p.Pro1997His)
c.5876C>A (p.Pro1959His)
c.5945C>A (p.Pro1982His)
c.5573C>A (p.Pro1858His)
c.5729C>A (p.Pro1910His)
c.5936C>A (p.Pro1979His)
c.5237C>A (p.Pro1746His)
c.5984C>A (p.Pro1995His)
gnomAD v4
16g.3729061_3729078dupCA2631403352CREBBPc.5973_5990dup (p.Pro1997_Val1998insGlySerGlnMetAlaPro)
c.5859_5876dup (p.Pro1959_Val1960insGlySerGlnMetAlaPro)
c.5928_5945dup (p.Pro1982_Val1983insGlySerGlnMetAlaPro)
c.5556_5573dup (p.Pro1858_Val1859insGlySerGlnMetAlaPro)
c.5712_5729dup (p.Pro1910_Val1911insGlySerGlnMetAlaPro)
c.5919_5936dup (p.Pro1979_Val1980insGlySerGlnMetAlaPro)
c.5220_5237dup (p.Pro1746_Val1747insGlySerGlnMetAlaPro)
c.5967_5984dup (p.Pro1995_Val1996insGlySerGlnMetAlaPro)
gnomAD v4
16g.3729058G>ACA394554702CREBBPc.5989C>T (p.Pro1997Ser)
c.5875C>T (p.Pro1959Ser)
c.5944C>T (p.Pro1982Ser)
c.5572C>T (p.Pro1858Ser)
c.5728C>T (p.Pro1910Ser)
c.5935C>T (p.Pro1979Ser)
c.5236C>T (p.Pro1746Ser)
c.5983C>T (p.Pro1995Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3729058G>CCA394554705CREBBPc.5989C>G (p.Pro1997Ala)
c.5875C>G (p.Pro1959Ala)
c.5944C>G (p.Pro1982Ala)
c.5572C>G (p.Pro1858Ala)
c.5728C>G (p.Pro1910Ala)
c.5935C>G (p.Pro1979Ala)
c.5236C>G (p.Pro1746Ala)
c.5983C>G (p.Pro1995Ala)
dbSNP
16g.3729058G=CA2202916193CREBBPc.5989C= (p.Pro1997=)
c.5875C= (p.Pro1959=)
c.5944C= (p.Pro1982=)
c.5572C= (p.Pro1858=)
c.5728C= (p.Pro1910=)
c.5935C= (p.Pro1979=)
c.5236C= (p.Pro1746=)
c.5983C= (p.Pro1995=)
16g.3729058G>TCA394554704CREBBPc.5989C>A (p.Pro1997Thr)
c.5875C>A (p.Pro1959Thr)
c.5944C>A (p.Pro1982Thr)
c.5572C>A (p.Pro1858Thr)
c.5728C>A (p.Pro1910Thr)
c.5935C>A (p.Pro1979Thr)
c.5236C>A (p.Pro1746Thr)
c.5983C>A (p.Pro1995Thr)
dbSNP gnomAD v4
16g.3729059G>ACA148134CREBBPc.5988C>T (p.Ala1996=)
c.5874C>T (p.Ala1958=)
c.5943C>T (p.Ala1981=)
c.5571C>T (p.Ala1857=)
c.5727C>T (p.Ala1909=)
c.5934C>T (p.Ala1978=)
c.5235C>T (p.Ala1745=)
c.5982C>T (p.Ala1994=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729059G>CCA493394222CREBBPc.5988C>G (p.Ala1996=)
c.5874C>G (p.Ala1958=)
c.5943C>G (p.Ala1981=)
c.5571C>G (p.Ala1857=)
c.5727C>G (p.Ala1909=)
c.5934C>G (p.Ala1978=)
c.5235C>G (p.Ala1745=)
c.5982C>G (p.Ala1994=)
16g.3729059G=CA2202916194CREBBPc.5988C= (p.Ala1996=)
c.5874C= (p.Ala1958=)
c.5943C= (p.Ala1981=)
c.5571C= (p.Ala1857=)
c.5727C= (p.Ala1909=)
c.5934C= (p.Ala1978=)
c.5235C= (p.Ala1745=)
c.5982C= (p.Ala1994=)
16g.3729059G>TCA276971835CREBBPc.5988C>A (p.Ala1996=)
c.5874C>A (p.Ala1958=)
c.5943C>A (p.Ala1981=)
c.5571C>A (p.Ala1857=)
c.5727C>A (p.Ala1909=)
c.5934C>A (p.Ala1978=)
c.5235C>A (p.Ala1745=)
c.5982C>A (p.Ala1994=)
dbSNP gnomAD v4
16g.3729060G>ACA394554708CREBBPc.5987C>T (p.Ala1996Val)
c.5873C>T (p.Ala1958Val)
c.5942C>T (p.Ala1981Val)
c.5570C>T (p.Ala1857Val)
c.5726C>T (p.Ala1909Val)
c.5933C>T (p.Ala1978Val)
c.5234C>T (p.Ala1745Val)
c.5981C>T (p.Ala1994Val)
gnomAD v4
16g.3729060G>CCA394554710CREBBPc.5987C>G (p.Ala1996Gly)
c.5873C>G (p.Ala1958Gly)
c.5942C>G (p.Ala1981Gly)
c.5570C>G (p.Ala1857Gly)
c.5726C>G (p.Ala1909Gly)
c.5933C>G (p.Ala1978Gly)
c.5234C>G (p.Ala1745Gly)
c.5981C>G (p.Ala1994Gly)
16g.3729060G>TCA394554712CREBBPc.5987C>A (p.Ala1996Asp)
c.5873C>A (p.Ala1958Asp)
c.5942C>A (p.Ala1981Asp)
c.5570C>A (p.Ala1857Asp)
c.5726C>A (p.Ala1909Asp)
c.5933C>A (p.Ala1978Asp)
c.5234C>A (p.Ala1745Asp)
c.5981C>A (p.Ala1994Asp)
gnomAD v4
16g.3729060_3729061delinsGCCA2202916195CREBBPc.5986_5987delinsGC (p.Ala1996=)
c.5872_5873delinsGC (p.Ala1958=)
c.5941_5942delinsGC (p.Ala1981=)
c.5569_5570delinsGC (p.Ala1857=)
c.5725_5726delinsGC (p.Ala1909=)
c.5932_5933delinsGC (p.Ala1978=)
c.5233_5234delinsGC (p.Ala1745=)
c.5980_5981delinsGC (p.Ala1994=)
16g.3729061C>ACA394554713CREBBPc.5986G>T (p.Ala1996Ser)
c.5872G>T (p.Ala1958Ser)
c.5941G>T (p.Ala1981Ser)
c.5569G>T (p.Ala1857Ser)
c.5725G>T (p.Ala1909Ser)
c.5932G>T (p.Ala1978Ser)
c.5233G>T (p.Ala1745Ser)
c.5980G>T (p.Ala1994Ser)
dbSNP gnomAD v4
16g.3729061C=CA2202916196CREBBPc.5986G= (p.Ala1996=)
c.5872G= (p.Ala1958=)
c.5941G= (p.Ala1981=)
c.5569G= (p.Ala1857=)
c.5725G= (p.Ala1909=)
c.5932G= (p.Ala1978=)
c.5233G= (p.Ala1745=)
c.5980G= (p.Ala1994=)
16g.3729061C>GCA394554714CREBBPc.5986G>C (p.Ala1996Pro)
c.5872G>C (p.Ala1958Pro)
c.5941G>C (p.Ala1981Pro)
c.5569G>C (p.Ala1857Pro)
c.5725G>C (p.Ala1909Pro)
c.5932G>C (p.Ala1978Pro)
c.5233G>C (p.Ala1745Pro)
c.5980G>C (p.Ala1994Pro)
ClinVar dbSNP gnomAD v2
16g.3729061C>TCA394554715CREBBPc.5986G>A (p.Ala1996Thr)
c.5872G>A (p.Ala1958Thr)
c.5941G>A (p.Ala1981Thr)
c.5569G>A (p.Ala1857Thr)
c.5725G>A (p.Ala1909Thr)
c.5932G>A (p.Ala1978Thr)
c.5233G>A (p.Ala1745Thr)
c.5980G>A (p.Ala1994Thr)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3729062delCA915949064CREBBPc.5986del (p.Ala1996ProfsTer3)
c.5872del (p.Ala1958ProfsTer3)
c.5941del (p.Ala1981ProfsTer3)
c.5569del (p.Ala1857ProfsTer3)
c.5725del (p.Ala1909ProfsTer3)
c.5932del (p.Ala1978ProfsTer3)
c.5233del (p.Ala1745ProfsTer3)
c.5980del (p.Ala1994ProfsTer3)
ClinVar dbSNP
16g.3729062C>ACA394554716CREBBPc.5985G>T (p.Met1995Ile)
c.5871G>T (p.Met1957Ile)
c.5940G>T (p.Met1980Ile)
c.5568G>T (p.Met1856Ile)
c.5724G>T (p.Met1908Ile)
c.5931G>T (p.Met1977Ile)
c.5232G>T (p.Met1744Ile)
c.5979G>T (p.Met1993Ile)
dbSNP gnomAD v4
16g.3729062C>GCA394554717CREBBPc.5985G>C (p.Met1995Ile)
c.5871G>C (p.Met1957Ile)
c.5940G>C (p.Met1980Ile)
c.5568G>C (p.Met1856Ile)
c.5724G>C (p.Met1908Ile)
c.5931G>C (p.Met1977Ile)
c.5232G>C (p.Met1744Ile)
c.5979G>C (p.Met1993Ile)
16g.3729062C>TCA394554718CREBBPc.5985G>A (p.Met1995Ile)
c.5871G>A (p.Met1957Ile)
c.5940G>A (p.Met1980Ile)
c.5568G>A (p.Met1856Ile)
c.5724G>A (p.Met1908Ile)
c.5931G>A (p.Met1977Ile)
c.5232G>A (p.Met1744Ile)
c.5979G>A (p.Met1993Ile)
dbSNP
16g.3729063A>CCA394554723CREBBPc.5984T>G (p.Met1995Arg)
c.5870T>G (p.Met1957Arg)
c.5939T>G (p.Met1980Arg)
c.5567T>G (p.Met1856Arg)
c.5723T>G (p.Met1908Arg)
c.5930T>G (p.Met1977Arg)
c.5231T>G (p.Met1744Arg)
c.5978T>G (p.Met1993Arg)
dbSNP
16g.3729063A>GCA394554721CREBBPc.5984T>C (p.Met1995Thr)
c.5870T>C (p.Met1957Thr)
c.5939T>C (p.Met1980Thr)
c.5567T>C (p.Met1856Thr)
c.5723T>C (p.Met1908Thr)
c.5930T>C (p.Met1977Thr)
c.5231T>C (p.Met1744Thr)
c.5978T>C (p.Met1993Thr)
16g.3729063A>TCA394554720CREBBPc.5984T>A (p.Met1995Lys)
c.5870T>A (p.Met1957Lys)
c.5939T>A (p.Met1980Lys)
c.5567T>A (p.Met1856Lys)
c.5723T>A (p.Met1908Lys)
c.5930T>A (p.Met1977Lys)
c.5231T>A (p.Met1744Lys)
c.5978T>A (p.Met1993Lys)
dbSNP
16g.3729064T>ACA394554725CREBBPc.5983A>T (p.Met1995Leu)
c.5869A>T (p.Met1957Leu)
c.5938A>T (p.Met1980Leu)
c.5566A>T (p.Met1856Leu)
c.5722A>T (p.Met1908Leu)
c.5929A>T (p.Met1977Leu)
c.5230A>T (p.Met1744Leu)
c.5977A>T (p.Met1993Leu)
dbSNP
16g.3729064T>CCA394554726CREBBPc.5983A>G (p.Met1995Val)
c.5869A>G (p.Met1957Val)
c.5938A>G (p.Met1980Val)
c.5566A>G (p.Met1856Val)
c.5722A>G (p.Met1908Val)
c.5929A>G (p.Met1977Val)
c.5230A>G (p.Met1744Val)
c.5977A>G (p.Met1993Val)
dbSNP gnomAD v2 gnomAD v4
16g.3729064T>GCA394554728CREBBPc.5983A>C (p.Met1995Leu)
c.5869A>C (p.Met1957Leu)
c.5938A>C (p.Met1980Leu)
c.5566A>C (p.Met1856Leu)
c.5722A>C (p.Met1908Leu)
c.5929A>C (p.Met1977Leu)
c.5230A>C (p.Met1744Leu)
c.5977A>C (p.Met1993Leu)
16g.3729064T=CA2202916197CREBBPc.5983A= (p.Met1995=)
c.5869A= (p.Met1957=)
c.5938A= (p.Met1980=)
c.5566A= (p.Met1856=)
c.5722A= (p.Met1908=)
c.5929A= (p.Met1977=)
c.5230A= (p.Met1744=)
c.5977A= (p.Met1993=)
16g.3729065C>ACA394554731CREBBPc.5982G>T (p.Gln1994His)
c.5868G>T (p.Gln1956His)
c.5937G>T (p.Gln1979His)
c.5565G>T (p.Gln1855His)
c.5721G>T (p.Gln1907His)
c.5928G>T (p.Gln1976His)
c.5229G>T (p.Gln1743His)
c.5976G>T (p.Gln1992His)
dbSNP gnomAD v4
16g.3729065C=CA2202916198CREBBPc.5982G= (p.Gln1994=)
c.5868G= (p.Gln1956=)
c.5937G= (p.Gln1979=)
c.5565G= (p.Gln1855=)
c.5721G= (p.Gln1907=)
c.5928G= (p.Gln1976=)
c.5229G= (p.Gln1743=)
c.5976G= (p.Gln1992=)
16g.3729065C>GCA394554733CREBBPc.5982G>C (p.Gln1994His)
c.5868G>C (p.Gln1956His)
c.5937G>C (p.Gln1979His)
c.5565G>C (p.Gln1855His)
c.5721G>C (p.Gln1907His)
c.5928G>C (p.Gln1976His)
c.5229G>C (p.Gln1743His)
c.5976G>C (p.Gln1992His)
gnomAD v4 COSMIC
16g.3729065C>TCA7869205CREBBPc.5982G>A (p.Gln1994=)
c.5868G>A (p.Gln1956=)
c.5937G>A (p.Gln1979=)
c.5565G>A (p.Gln1855=)
c.5721G>A (p.Gln1907=)
c.5928G>A (p.Gln1976=)
c.5229G>A (p.Gln1743=)
c.5976G>A (p.Gln1992=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729066T>ACA394554736CREBBPc.5981A>T (p.Gln1994Leu)
c.5867A>T (p.Gln1956Leu)
c.5936A>T (p.Gln1979Leu)
c.5564A>T (p.Gln1855Leu)
c.5720A>T (p.Gln1907Leu)
c.5927A>T (p.Gln1976Leu)
c.5228A>T (p.Gln1743Leu)
c.5975A>T (p.Gln1992Leu)
dbSNP
16g.3729066T>CCA394554738CREBBPc.5981A>G (p.Gln1994Arg)
c.5867A>G (p.Gln1956Arg)
c.5936A>G (p.Gln1979Arg)
c.5564A>G (p.Gln1855Arg)
c.5720A>G (p.Gln1907Arg)
c.5927A>G (p.Gln1976Arg)
c.5228A>G (p.Gln1743Arg)
c.5975A>G (p.Gln1992Arg)
gnomAD v4
16g.3729066T>GCA394554740CREBBPc.5981A>C (p.Gln1994Pro)
c.5867A>C (p.Gln1956Pro)
c.5936A>C (p.Gln1979Pro)
c.5564A>C (p.Gln1855Pro)
c.5720A>C (p.Gln1907Pro)
c.5927A>C (p.Gln1976Pro)
c.5228A>C (p.Gln1743Pro)
c.5975A>C (p.Gln1992Pro)
gnomAD v4
16g.3729066_3729086delinsATGCCA2573152060CREBBPc.5961_5981delinsGCAT (p.Met1988HisfsTer?)
c.5847_5867delinsGCAT (p.Met1950HisfsTer?)
c.5916_5936delinsGCAT (p.Met1973HisfsTer?)
c.5544_5564delinsGCAT (p.Met1849HisfsTer?)
c.5700_5720delinsGCAT (p.Met1901HisfsTer?)
c.5907_5927delinsGCAT (p.Met1970HisfsTer?)
c.5208_5228delinsGCAT (p.Met1737HisfsTer?)
c.5955_5975delinsGCAT (p.Met1986HisfsTer?)
ClinVar dbSNP
16g.3729067G>ACA394554742CREBBPc.5980C>T (p.Gln1994Ter)
c.5866C>T (p.Gln1956Ter)
c.5935C>T (p.Gln1979Ter)
c.5563C>T (p.Gln1855Ter)
c.5719C>T (p.Gln1907Ter)
c.5926C>T (p.Gln1976Ter)
c.5227C>T (p.Gln1743Ter)
c.5974C>T (p.Gln1992Ter)
dbSNP
16g.3729067G>CCA394554744CREBBPc.5980C>G (p.Gln1994Glu)
c.5866C>G (p.Gln1956Glu)
c.5935C>G (p.Gln1979Glu)
c.5563C>G (p.Gln1855Glu)
c.5719C>G (p.Gln1907Glu)
c.5926C>G (p.Gln1976Glu)
c.5227C>G (p.Gln1743Glu)
c.5974C>G (p.Gln1992Glu)
gnomAD v4
16g.3729067G>TCA394554745CREBBPc.5980C>A (p.Gln1994Lys)
c.5866C>A (p.Gln1956Lys)
c.5935C>A (p.Gln1979Lys)
c.5563C>A (p.Gln1855Lys)
c.5719C>A (p.Gln1907Lys)
c.5926C>A (p.Gln1976Lys)
c.5227C>A (p.Gln1743Lys)
c.5974C>A (p.Gln1992Lys)
dbSNP gnomAD v4
16g.3729068G>ACA493394236CREBBPc.5979C>T (p.Ser1993=)
c.5865C>T (p.Ser1955=)
c.5934C>T (p.Ser1978=)
c.5562C>T (p.Ser1854=)
c.5718C>T (p.Ser1906=)
c.5925C>T (p.Ser1975=)
c.5226C>T (p.Ser1742=)
c.5973C>T (p.Ser1991=)
dbSNP gnomAD v4
16g.3729068G>CCA394554750CREBBPc.5979C>G (p.Ser1993Arg)
c.5865C>G (p.Ser1955Arg)
c.5934C>G (p.Ser1978Arg)
c.5562C>G (p.Ser1854Arg)
c.5718C>G (p.Ser1906Arg)
c.5925C>G (p.Ser1975Arg)
c.5226C>G (p.Ser1742Arg)
c.5973C>G (p.Ser1991Arg)
dbSNP
16g.3729068G>TCA394554748CREBBPc.5979C>A (p.Ser1993Arg)
c.5865C>A (p.Ser1955Arg)
c.5934C>A (p.Ser1978Arg)
c.5562C>A (p.Ser1854Arg)
c.5718C>A (p.Ser1906Arg)
c.5925C>A (p.Ser1975Arg)
c.5226C>A (p.Ser1742Arg)
c.5973C>A (p.Ser1991Arg)
gnomAD v4
16g.3729070_3729087delCA2580091138CREBBPc.5962_5979del (p.Met1988_Ser1993del)
c.5848_5865del (p.Met1950_Ser1955del)
c.5917_5934del (p.Met1973_Ser1978del)
c.5545_5562del (p.Met1849_Ser1854del)
c.5701_5718del (p.Met1901_Ser1906del)
c.5908_5925del (p.Met1970_Ser1975del)
c.5209_5226del (p.Met1737_Ser1742del)
c.5956_5973del (p.Met1986_Ser1991del)
ClinVar
16g.3729069C>ACA394554752CREBBPc.5978G>T (p.Ser1993Ile)
c.5864G>T (p.Ser1955Ile)
c.5933G>T (p.Ser1978Ile)
c.5561G>T (p.Ser1854Ile)
c.5717G>T (p.Ser1906Ile)
c.5924G>T (p.Ser1975Ile)
c.5225G>T (p.Ser1742Ile)
c.5972G>T (p.Ser1991Ile)
dbSNP
16g.3729069C>GCA394554754CREBBPc.5978G>C (p.Ser1993Thr)
c.5864G>C (p.Ser1955Thr)
c.5933G>C (p.Ser1978Thr)
c.5561G>C (p.Ser1854Thr)
c.5717G>C (p.Ser1906Thr)
c.5924G>C (p.Ser1975Thr)
c.5225G>C (p.Ser1742Thr)
c.5972G>C (p.Ser1991Thr)
dbSNP
16g.3729069C>TCA394554756CREBBPc.5978G>A (p.Ser1993Asn)
c.5864G>A (p.Ser1955Asn)
c.5933G>A (p.Ser1978Asn)
c.5561G>A (p.Ser1854Asn)
c.5717G>A (p.Ser1906Asn)
c.5924G>A (p.Ser1975Asn)
c.5225G>A (p.Ser1742Asn)
c.5972G>A (p.Ser1991Asn)
gnomAD v4
16g.3729069_3729078delinsCTCCCCGGGGCA2202916199CREBBPc.5969_5978delinsCCCCGGGGAG (p.Thr1990=)
c.5855_5864delinsCCCCGGGGAG (p.Thr1952=)
c.5924_5933delinsCCCCGGGGAG (p.Thr1975=)
c.5552_5561delinsCCCCGGGGAG (p.Thr1851=)
c.5708_5717delinsCCCCGGGGAG (p.Thr1903=)
c.5915_5924delinsCCCCGGGGAG (p.Thr1972=)
c.5216_5225delinsCCCCGGGGAG (p.Thr1739=)
c.5963_5972delinsCCCCGGGGAG (p.Thr1988=)
16g.3729070delCA2631403388CREBBPc.5977del (p.Ser1993AlafsTer6)
c.5863del (p.Ser1955AlafsTer6)
c.5932del (p.Ser1978AlafsTer6)
c.5560del (p.Ser1854AlafsTer6)
c.5716del (p.Ser1906AlafsTer6)
c.5923del (p.Ser1975AlafsTer6)
c.5224del (p.Ser1742AlafsTer6)
c.5971del (p.Ser1991AlafsTer6)
gnomAD v4
16g.3729070T>ACA394554757CREBBPc.5977A>T (p.Ser1993Cys)
c.5863A>T (p.Ser1955Cys)
c.5932A>T (p.Ser1978Cys)
c.5560A>T (p.Ser1854Cys)
c.5716A>T (p.Ser1906Cys)
c.5923A>T (p.Ser1975Cys)
c.5224A>T (p.Ser1742Cys)
c.5971A>T (p.Ser1991Cys)
16g.3729070T>CCA394554759CREBBPc.5977A>G (p.Ser1993Gly)
c.5863A>G (p.Ser1955Gly)
c.5932A>G (p.Ser1978Gly)
c.5560A>G (p.Ser1854Gly)
c.5716A>G (p.Ser1906Gly)
c.5923A>G (p.Ser1975Gly)
c.5224A>G (p.Ser1742Gly)
c.5971A>G (p.Ser1991Gly)
dbSNP
16g.3729070T>GCA394554761CREBBPc.5977A>C (p.Ser1993Arg)
c.5863A>C (p.Ser1955Arg)
c.5932A>C (p.Ser1978Arg)
c.5560A>C (p.Ser1854Arg)
c.5716A>C (p.Ser1906Arg)
c.5923A>C (p.Ser1975Arg)
c.5224A>C (p.Ser1742Arg)
c.5971A>C (p.Ser1991Arg)
16g.3729070T=CA2202916200CREBBPc.5977A= (p.Ser1993=)
c.5863A= (p.Ser1955=)
c.5932A= (p.Ser1978=)
c.5560A= (p.Ser1854=)
c.5716A= (p.Ser1906=)
c.5923A= (p.Ser1975=)
c.5224A= (p.Ser1742=)
c.5971A= (p.Ser1991=)
16g.3729075_3729083delCA243765CREBBPc.5969_5977del (p.Thr1990_Gly1992del)
c.5855_5863del (p.Thr1952_Gly1954del)
c.5924_5932del (p.Thr1975_Gly1977del)
c.5552_5560del (p.Thr1851_Gly1853del)
c.5708_5716del (p.Thr1903_Gly1905del)
c.5915_5923del (p.Thr1972_Gly1974del)
c.5216_5224del (p.Thr1739_Gly1741del)
c.5963_5971del (p.Thr1988_Gly1990del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729071C>ACA493394242CREBBPc.5976G>T (p.Gly1992=)
c.5862G>T (p.Gly1954=)
c.5931G>T (p.Gly1977=)
c.5559G>T (p.Gly1853=)
c.5715G>T (p.Gly1905=)
c.5922G>T (p.Gly1974=)
c.5223G>T (p.Gly1741=)
c.5970G>T (p.Gly1990=)
gnomAD v4
16g.3729071C>GCA493394239CREBBPc.5976G>C (p.Gly1992=)
c.5862G>C (p.Gly1954=)
c.5931G>C (p.Gly1977=)
c.5559G>C (p.Gly1853=)
c.5715G>C (p.Gly1905=)
c.5922G>C (p.Gly1974=)
c.5223G>C (p.Gly1741=)
c.5970G>C (p.Gly1990=)
dbSNP
16g.3729071C>TCA493394240CREBBPc.5976G>A (p.Gly1992=)
c.5862G>A (p.Gly1954=)
c.5931G>A (p.Gly1977=)
c.5559G>A (p.Gly1853=)
c.5715G>A (p.Gly1905=)
c.5922G>A (p.Gly1974=)
c.5223G>A (p.Gly1741=)
c.5970G>A (p.Gly1990=)
dbSNP gnomAD v4
16g.3729074delCA2631403393CREBBPc.5976del (p.Ser1993AlafsTer6)
c.5862del (p.Ser1955AlafsTer6)
c.5931del (p.Ser1978AlafsTer6)
c.5559del (p.Ser1854AlafsTer6)
c.5715del (p.Ser1906AlafsTer6)
c.5922del (p.Ser1975AlafsTer6)
c.5223del (p.Ser1742AlafsTer6)
c.5970del (p.Ser1991AlafsTer6)
dbSNP gnomAD v4
16g.3729072C>ACA394554765CREBBPc.5975G>T (p.Gly1992Val)
c.5861G>T (p.Gly1954Val)
c.5930G>T (p.Gly1977Val)
c.5558G>T (p.Gly1853Val)
c.5714G>T (p.Gly1905Val)
c.5921G>T (p.Gly1974Val)
c.5222G>T (p.Gly1741Val)
c.5969G>T (p.Gly1990Val)
16g.3729072C>GCA394554766CREBBPc.5975G>C (p.Gly1992Ala)
c.5861G>C (p.Gly1954Ala)
c.5930G>C (p.Gly1977Ala)
c.5558G>C (p.Gly1853Ala)
c.5714G>C (p.Gly1905Ala)
c.5921G>C (p.Gly1974Ala)
c.5222G>C (p.Gly1741Ala)
c.5969G>C (p.Gly1990Ala)
16g.3729072C>TCA394554768CREBBPc.5975G>A (p.Gly1992Glu)
c.5861G>A (p.Gly1954Glu)
c.5930G>A (p.Gly1977Glu)
c.5558G>A (p.Gly1853Glu)
c.5714G>A (p.Gly1905Glu)
c.5921G>A (p.Gly1974Glu)
c.5222G>A (p.Gly1741Glu)
c.5969G>A (p.Gly1990Glu)
16g.3729073C>ACA394554771CREBBPc.5974G>T (p.Gly1992Trp)
c.5860G>T (p.Gly1954Trp)
c.5929G>T (p.Gly1977Trp)
c.5557G>T (p.Gly1853Trp)
c.5713G>T (p.Gly1905Trp)
c.5920G>T (p.Gly1974Trp)
c.5221G>T (p.Gly1741Trp)
c.5968G>T (p.Gly1990Trp)
gnomAD v4
16g.3729073C=CA2202916201CREBBPc.5974G= (p.Gly1992=)
c.5860G= (p.Gly1954=)
c.5929G= (p.Gly1977=)
c.5557G= (p.Gly1853=)
c.5713G= (p.Gly1905=)
c.5920G= (p.Gly1974=)
c.5221G= (p.Gly1741=)
c.5968G= (p.Gly1990=)
16g.3729073C>GCA394554772CREBBPc.5974G>C (p.Gly1992Arg)
c.5860G>C (p.Gly1954Arg)
c.5929G>C (p.Gly1977Arg)
c.5557G>C (p.Gly1853Arg)
c.5713G>C (p.Gly1905Arg)
c.5920G>C (p.Gly1974Arg)
c.5221G>C (p.Gly1741Arg)
c.5968G>C (p.Gly1990Arg)
16g.3729073C>TCA394554774CREBBPc.5974G>A (p.Gly1992Arg)
c.5860G>A (p.Gly1954Arg)
c.5929G>A (p.Gly1977Arg)
c.5557G>A (p.Gly1853Arg)
c.5713G>A (p.Gly1905Arg)
c.5920G>A (p.Gly1974Arg)
c.5221G>A (p.Gly1741Arg)
c.5968G>A (p.Gly1990Arg)
dbSNP gnomAD v3 gnomAD v4
16g.3729074C>ACA493394246CREBBPc.5973G>T (p.Pro1991=)
c.5859G>T (p.Pro1953=)
c.5928G>T (p.Pro1976=)
c.5556G>T (p.Pro1852=)
c.5712G>T (p.Pro1904=)
c.5919G>T (p.Pro1973=)
c.5220G>T (p.Pro1740=)
c.5967G>T (p.Pro1989=)
gnomAD v4
16g.3729074C=CA2202916202CREBBPc.5973G= (p.Pro1991=)
c.5859G= (p.Pro1953=)
c.5928G= (p.Pro1976=)
c.5556G= (p.Pro1852=)
c.5712G= (p.Pro1904=)
c.5919G= (p.Pro1973=)
c.5220G= (p.Pro1740=)
c.5967G= (p.Pro1989=)
16g.3729074C>GCA493394247CREBBPc.5973G>C (p.Pro1991=)
c.5859G>C (p.Pro1953=)
c.5928G>C (p.Pro1976=)
c.5556G>C (p.Pro1852=)
c.5712G>C (p.Pro1904=)
c.5919G>C (p.Pro1973=)
c.5220G>C (p.Pro1740=)
c.5967G>C (p.Pro1989=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729074C>TCA7869206CREBBPc.5973G>A (p.Pro1991=)
c.5859G>A (p.Pro1953=)
c.5928G>A (p.Pro1976=)
c.5556G>A (p.Pro1852=)
c.5712G>A (p.Pro1904=)
c.5919G>A (p.Pro1973=)
c.5220G>A (p.Pro1740=)
c.5967G>A (p.Pro1989=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729075G>ACA7869208CREBBPc.5972C>T (p.Pro1991Leu)
c.5858C>T (p.Pro1953Leu)
c.5927C>T (p.Pro1976Leu)
c.5555C>T (p.Pro1852Leu)
c.5711C>T (p.Pro1904Leu)
c.5918C>T (p.Pro1973Leu)
c.5219C>T (p.Pro1740Leu)
c.5966C>T (p.Pro1989Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729075G>CCA394554779CREBBPc.5972C>G (p.Pro1991Arg)
c.5858C>G (p.Pro1953Arg)
c.5927C>G (p.Pro1976Arg)
c.5555C>G (p.Pro1852Arg)
c.5711C>G (p.Pro1904Arg)
c.5918C>G (p.Pro1973Arg)
c.5219C>G (p.Pro1740Arg)
c.5966C>G (p.Pro1989Arg)
dbSNP gnomAD v4
16g.3729075G=CA2202916203CREBBPc.5972C= (p.Pro1991=)
c.5858C= (p.Pro1953=)
c.5927C= (p.Pro1976=)
c.5555C= (p.Pro1852=)
c.5711C= (p.Pro1904=)
c.5918C= (p.Pro1973=)
c.5219C= (p.Pro1740=)
c.5966C= (p.Pro1989=)
16g.3729075G>TCA7869207CREBBPc.5972C>A (p.Pro1991Gln)
c.5858C>A (p.Pro1953Gln)
c.5927C>A (p.Pro1976Gln)
c.5555C>A (p.Pro1852Gln)
c.5711C>A (p.Pro1904Gln)
c.5918C>A (p.Pro1973Gln)
c.5219C>A (p.Pro1740Gln)
c.5966C>A (p.Pro1989Gln)
dbSNP ExAC gnomAD v4
16g.3729078delCA2631403404CREBBPc.5972del (p.Pro1991ArgfsTer8)
c.5858del (p.Pro1953ArgfsTer8)
c.5927del (p.Pro1976ArgfsTer8)
c.5555del (p.Pro1852ArgfsTer8)
c.5711del (p.Pro1904ArgfsTer8)
c.5918del (p.Pro1973ArgfsTer8)
c.5219del (p.Pro1740ArgfsTer8)
c.5966del (p.Pro1989ArgfsTer8)
gnomAD v4
16g.3729076G>ACA7869209CREBBPc.5971C>T (p.Pro1991Ser)
c.5857C>T (p.Pro1953Ser)
c.5926C>T (p.Pro1976Ser)
c.5554C>T (p.Pro1852Ser)
c.5710C>T (p.Pro1904Ser)
c.5917C>T (p.Pro1973Ser)
c.5218C>T (p.Pro1740Ser)
c.5965C>T (p.Pro1989Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729076G>CCA394554783CREBBPc.5971C>G (p.Pro1991Ala)
c.5857C>G (p.Pro1953Ala)
c.5926C>G (p.Pro1976Ala)
c.5554C>G (p.Pro1852Ala)
c.5710C>G (p.Pro1904Ala)
c.5917C>G (p.Pro1973Ala)
c.5218C>G (p.Pro1740Ala)
c.5965C>G (p.Pro1989Ala)
dbSNP
16g.3729076G=CA2202916204CREBBPc.5971C= (p.Pro1991=)
c.5857C= (p.Pro1953=)
c.5926C= (p.Pro1976=)
c.5554C= (p.Pro1852=)
c.5710C= (p.Pro1904=)
c.5917C= (p.Pro1973=)
c.5218C= (p.Pro1740=)
c.5965C= (p.Pro1989=)
16g.3729076G>TCA394554785CREBBPc.5971C>A (p.Pro1991Thr)
c.5857C>A (p.Pro1953Thr)
c.5926C>A (p.Pro1976Thr)
c.5554C>A (p.Pro1852Thr)
c.5710C>A (p.Pro1904Thr)
c.5917C>A (p.Pro1973Thr)
c.5218C>A (p.Pro1740Thr)
c.5965C>A (p.Pro1989Thr)
dbSNP gnomAD v4
16g.3729077G>ACA7869210CREBBPc.5970C>T (p.Thr1990=)
c.5856C>T (p.Thr1952=)
c.5925C>T (p.Thr1975=)
c.5553C>T (p.Thr1851=)
c.5709C>T (p.Thr1903=)
c.5916C>T (p.Thr1972=)
c.5217C>T (p.Thr1739=)
c.5964C>T (p.Thr1988=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729077G>CCA493394249CREBBPc.5970C>G (p.Thr1990=)
c.5856C>G (p.Thr1952=)
c.5925C>G (p.Thr1975=)
c.5553C>G (p.Thr1851=)
c.5709C>G (p.Thr1903=)
c.5916C>G (p.Thr1972=)
c.5217C>G (p.Thr1739=)
c.5964C>G (p.Thr1988=)
dbSNP
16g.3729077G=CA2202916205CREBBPc.5970C= (p.Thr1990=)
c.5856C= (p.Thr1952=)
c.5925C= (p.Thr1975=)
c.5553C= (p.Thr1851=)
c.5709C= (p.Thr1903=)
c.5916C= (p.Thr1972=)
c.5217C= (p.Thr1739=)
c.5964C= (p.Thr1988=)
16g.3729077G>TCA493394251CREBBPc.5970C>A (p.Thr1990=)
c.5856C>A (p.Thr1952=)
c.5925C>A (p.Thr1975=)
c.5553C>A (p.Thr1851=)
c.5709C>A (p.Thr1903=)
c.5916C>A (p.Thr1972=)
c.5217C>A (p.Thr1739=)
c.5964C>A (p.Thr1988=)
gnomAD v4
16g.3729078G>ACA394554788CREBBPc.5969C>T (p.Thr1990Ile)
c.5855C>T (p.Thr1952Ile)
c.5924C>T (p.Thr1975Ile)
c.5552C>T (p.Thr1851Ile)
c.5708C>T (p.Thr1903Ile)
c.5915C>T (p.Thr1972Ile)
c.5216C>T (p.Thr1739Ile)
c.5963C>T (p.Thr1988Ile)
dbSNP gnomAD v4
16g.3729078G>CCA394554790CREBBPc.5969C>G (p.Thr1990Ser)
c.5855C>G (p.Thr1952Ser)
c.5924C>G (p.Thr1975Ser)
c.5552C>G (p.Thr1851Ser)
c.5708C>G (p.Thr1903Ser)
c.5915C>G (p.Thr1972Ser)
c.5216C>G (p.Thr1739Ser)
c.5963C>G (p.Thr1988Ser)
dbSNP gnomAD v3 gnomAD v4
16g.3729078G=CA2202916206CREBBPc.5969C= (p.Thr1990=)
c.5855C= (p.Thr1952=)
c.5924C= (p.Thr1975=)
c.5552C= (p.Thr1851=)
c.5708C= (p.Thr1903=)
c.5915C= (p.Thr1972=)
c.5216C= (p.Thr1739=)
c.5963C= (p.Thr1988=)
16g.3729078G>TCA394554791CREBBPc.5969C>A (p.Thr1990Asn)
c.5855C>A (p.Thr1952Asn)
c.5924C>A (p.Thr1975Asn)
c.5552C>A (p.Thr1851Asn)
c.5708C>A (p.Thr1903Asn)
c.5915C>A (p.Thr1972Asn)
c.5216C>A (p.Thr1739Asn)
c.5963C>A (p.Thr1988Asn)
dbSNP gnomAD v4
16g.3729079T>ACA394554793CREBBPc.5968A>T (p.Thr1990Ser)
c.5854A>T (p.Thr1952Ser)
c.5923A>T (p.Thr1975Ser)
c.5551A>T (p.Thr1851Ser)
c.5707A>T (p.Thr1903Ser)
c.5914A>T (p.Thr1972Ser)
c.5215A>T (p.Thr1739Ser)
c.5962A>T (p.Thr1988Ser)
16g.3729079T>CCA394554794CREBBPc.5968A>G (p.Thr1990Ala)
c.5854A>G (p.Thr1952Ala)
c.5923A>G (p.Thr1975Ala)
c.5551A>G (p.Thr1851Ala)
c.5707A>G (p.Thr1903Ala)
c.5914A>G (p.Thr1972Ala)
c.5215A>G (p.Thr1739Ala)
c.5962A>G (p.Thr1988Ala)
16g.3729079T>GCA394554795CREBBPc.5968A>C (p.Thr1990Pro)
c.5854A>C (p.Thr1952Pro)
c.5923A>C (p.Thr1975Pro)
c.5551A>C (p.Thr1851Pro)
c.5707A>C (p.Thr1903Pro)
c.5914A>C (p.Thr1972Pro)
c.5215A>C (p.Thr1739Pro)
c.5962A>C (p.Thr1988Pro)
gnomAD v4
16g.3729079_3729080delinsTCCA2202916207CREBBPc.5967_5968delinsGA (p.Gly1989=)
c.5853_5854delinsGA (p.Gly1951=)
c.5922_5923delinsGA (p.Gly1974=)
c.5550_5551delinsGA (p.Gly1850=)
c.5706_5707delinsGA (p.Gly1902=)
c.5913_5914delinsGA (p.Gly1971=)
c.5214_5215delinsGA (p.Gly1738=)
c.5961_5962delinsGA (p.Gly1987=)
16g.3729080C>ACA493394255CREBBPc.5967G>T (p.Gly1989=)
c.5853G>T (p.Gly1951=)
c.5922G>T (p.Gly1974=)
c.5550G>T (p.Gly1850=)
c.5706G>T (p.Gly1902=)
c.5913G>T (p.Gly1971=)
c.5214G>T (p.Gly1738=)
c.5961G>T (p.Gly1987=)
dbSNP gnomAD v4
16g.3729080C=CA2202916208CREBBPc.5967G= (p.Gly1989=)
c.5853G= (p.Gly1951=)
c.5922G= (p.Gly1974=)
c.5550G= (p.Gly1850=)
c.5706G= (p.Gly1902=)
c.5913G= (p.Gly1971=)
c.5214G= (p.Gly1738=)
c.5961G= (p.Gly1987=)
16g.3729080C>GCA493394254CREBBPc.5967G>C (p.Gly1989=)
c.5853G>C (p.Gly1951=)
c.5922G>C (p.Gly1974=)
c.5550G>C (p.Gly1850=)
c.5706G>C (p.Gly1902=)
c.5913G>C (p.Gly1971=)
c.5214G>C (p.Gly1738=)
c.5961G>C (p.Gly1987=)
dbSNP
16g.3729080C>TCA7869211CREBBPc.5967G>A (p.Gly1989=)
c.5853G>A (p.Gly1951=)
c.5922G>A (p.Gly1974=)
c.5550G>A (p.Gly1850=)
c.5706G>A (p.Gly1902=)
c.5913G>A (p.Gly1971=)
c.5214G>A (p.Gly1738=)
c.5961G>A (p.Gly1987=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3729083delCA158192CREBBPc.5967del (p.Thr1990ProfsTer9)
c.5853del (p.Thr1952ProfsTer9)
c.5922del (p.Thr1975ProfsTer9)
c.5550del (p.Thr1851ProfsTer9)
c.5706del (p.Thr1903ProfsTer9)
c.5913del (p.Thr1972ProfsTer9)
c.5214del (p.Thr1739ProfsTer9)
c.5961del (p.Thr1988ProfsTer9)
ClinVar dbSNP gnomAD v4
16g.3729081C>ACA394554798CREBBPc.5966G>T (p.Gly1989Val)
c.5852G>T (p.Gly1951Val)
c.5921G>T (p.Gly1974Val)
c.5549G>T (p.Gly1850Val)
c.5705G>T (p.Gly1902Val)
c.5912G>T (p.Gly1971Val)
c.5213G>T (p.Gly1738Val)
c.5960G>T (p.Gly1987Val)
dbSNP
16g.3729081C=CA2202916209CREBBPc.5966G= (p.Gly1989=)
c.5852G= (p.Gly1951=)
c.5921G= (p.Gly1974=)
c.5549G= (p.Gly1850=)
c.5705G= (p.Gly1902=)
c.5912G= (p.Gly1971=)
c.5213G= (p.Gly1738=)
c.5960G= (p.Gly1987=)
16g.3729081C>GCA394554800CREBBPc.5966G>C (p.Gly1989Ala)
c.5852G>C (p.Gly1951Ala)
c.5921G>C (p.Gly1974Ala)
c.5549G>C (p.Gly1850Ala)
c.5705G>C (p.Gly1902Ala)
c.5912G>C (p.Gly1971Ala)
c.5213G>C (p.Gly1738Ala)
c.5960G>C (p.Gly1987Ala)
dbSNP
16g.3729081C>TCA7869212CREBBPc.5966G>A (p.Gly1989Glu)
c.5852G>A (p.Gly1951Glu)
c.5921G>A (p.Gly1974Glu)
c.5549G>A (p.Gly1850Glu)
c.5705G>A (p.Gly1902Glu)
c.5912G>A (p.Gly1971Glu)
c.5213G>A (p.Gly1738Glu)
c.5960G>A (p.Gly1987Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3729082C>ACA394554802CREBBPc.5965G>T (p.Gly1989Trp)
c.5851G>T (p.Gly1951Trp)
c.5920G>T (p.Gly1974Trp)
c.5548G>T (p.Gly1850Trp)
c.5704G>T (p.Gly1902Trp)
c.5911G>T (p.Gly1971Trp)
c.5212G>T (p.Gly1738Trp)
c.5959G>T (p.Gly1987Trp)
dbSNP
16g.3729082C>GCA394554804CREBBPc.5965G>C (p.Gly1989Arg)
c.5851G>C (p.Gly1951Arg)
c.5920G>C (p.Gly1974Arg)
c.5548G>C (p.Gly1850Arg)
c.5704G>C (p.Gly1902Arg)
c.5911G>C (p.Gly1971Arg)
c.5212G>C (p.Gly1738Arg)
c.5959G>C (p.Gly1987Arg)
dbSNP
16g.3729082C>TCA394554806CREBBPc.5965G>A (p.Gly1989Arg)
c.5851G>A (p.Gly1951Arg)
c.5920G>A (p.Gly1974Arg)
c.5548G>A (p.Gly1850Arg)
c.5704G>A (p.Gly1902Arg)
c.5911G>A (p.Gly1971Arg)
c.5212G>A (p.Gly1738Arg)
c.5959G>A (p.Gly1987Arg)
dbSNP gnomAD v4
16g.3729083C>ACA394554808CREBBPc.5964G>T (p.Met1988Ile)
c.5850G>T (p.Met1950Ile)
c.5919G>T (p.Met1973Ile)
c.5547G>T (p.Met1849Ile)
c.5703G>T (p.Met1901Ile)
c.5910G>T (p.Met1970Ile)
c.5211G>T (p.Met1737Ile)
c.5958G>T (p.Met1986Ile)
dbSNP gnomAD v4
16g.3729083C>GCA394554810CREBBPc.5964G>C (p.Met1988Ile)
c.5850G>C (p.Met1950Ile)
c.5919G>C (p.Met1973Ile)
c.5547G>C (p.Met1849Ile)
c.5703G>C (p.Met1901Ile)
c.5910G>C (p.Met1970Ile)
c.5211G>C (p.Met1737Ile)
c.5958G>C (p.Met1986Ile)
16g.3729083C>TCA394554812CREBBPc.5964G>A (p.Met1988Ile)
c.5850G>A (p.Met1950Ile)
c.5919G>A (p.Met1973Ile)
c.5547G>A (p.Met1849Ile)
c.5703G>A (p.Met1901Ile)
c.5910G>A (p.Met1970Ile)
c.5211G>A (p.Met1737Ile)
c.5958G>A (p.Met1986Ile)
dbSNP gnomAD v4
16g.3729084A=CA2202916210CREBBPc.5963T= (p.Met1988=)
c.5849T= (p.Met1950=)
c.5918T= (p.Met1973=)
c.5546T= (p.Met1849=)
c.5702T= (p.Met1901=)
c.5909T= (p.Met1970=)
c.5210T= (p.Met1737=)
c.5957T= (p.Met1986=)
16g.3729084A>CCA394554813CREBBPc.5963T>G (p.Met1988Arg)
c.5849T>G (p.Met1950Arg)
c.5918T>G (p.Met1973Arg)
c.5546T>G (p.Met1849Arg)
c.5702T>G (p.Met1901Arg)
c.5909T>G (p.Met1970Arg)
c.5210T>G (p.Met1737Arg)
c.5957T>G (p.Met1986Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3729084A>GCA394554815CREBBPc.5963T>C (p.Met1988Thr)
c.5849T>C (p.Met1950Thr)
c.5918T>C (p.Met1973Thr)
c.5546T>C (p.Met1849Thr)
c.5702T>C (p.Met1901Thr)
c.5909T>C (p.Met1970Thr)
c.5210T>C (p.Met1737Thr)
c.5957T>C (p.Met1986Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3729084A>TCA394554817CREBBPc.5963T>A (p.Met1988Lys)
c.5849T>A (p.Met1950Lys)
c.5918T>A (p.Met1973Lys)
c.5546T>A (p.Met1849Lys)
c.5702T>A (p.Met1901Lys)
c.5909T>A (p.Met1970Lys)
c.5210T>A (p.Met1737Lys)
c.5957T>A (p.Met1986Lys)
dbSNP

Number of alleles fetched