Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3728918_3728942dupCA915949062CREBBPc.6113_6137dup (p.Ala2047CysfsTer?)
c.5999_6023dup (p.Ala2009CysfsTer?)
c.6068_6092dup (p.Ala2032CysfsTer?)
c.5696_5720dup (p.Ala1908CysfsTer?)
c.5852_5876dup (p.Ala1960CysfsTer?)
c.6059_6083dup (p.Ala2029CysfsTer?)
c.5360_5384dup (p.Ala1796CysfsTer?)
c.6107_6131dup (p.Ala2045CysfsTer?)
 ClinVar dbSNP
16g.3728918_3728942delCA915949063CREBBPc.6113_6137del (p.Pro2038ArgfsTer29)
c.5999_6023del (p.Pro2000ArgfsTer29)
c.6068_6092del (p.Pro2023ArgfsTer29)
c.5696_5720del (p.Pro1899ArgfsTer29)
c.5852_5876del (p.Pro1951ArgfsTer29)
c.6059_6083del (p.Pro2020ArgfsTer29)
c.5360_5384del (p.Pro1787ArgfsTer29)
c.6107_6131del (p.Pro2036ArgfsTer29)
 ClinVar dbSNP
16g.3728930_3728940delinsCACAGGCCTGGCA2202916122CREBBPc.6107_6117delinsCCAGGCCTGTG (p.Pro2036=)
c.5993_6003delinsCCAGGCCTGTG (p.Pro1998=)
c.6062_6072delinsCCAGGCCTGTG (p.Pro2021=)
c.5690_5700delinsCCAGGCCTGTG (p.Pro1897=)
c.5846_5856delinsCCAGGCCTGTG (p.Pro1949=)
c.6053_6063delinsCCAGGCCTGTG (p.Pro2018=)
c.5354_5364delinsCCAGGCCTGTG (p.Pro1785=)
c.6101_6111delinsCCAGGCCTGTG (p.Pro2034=)
16g.3728931_3728940delCA277328CREBBPc.6107_6116del (p.Pro2036ArgfsTer?)
c.5993_6002del (p.Pro1998ArgfsTer?)
c.6062_6071del (p.Pro2021ArgfsTer?)
c.5690_5699del (p.Pro1897ArgfsTer?)
c.5846_5855del (p.Pro1949ArgfsTer?)
c.6053_6062del (p.Pro2018ArgfsTer?)
c.5354_5363del (p.Pro1785ArgfsTer?)
c.6101_6110del (p.Pro2034ArgfsTer?)
 ClinVar dbSNP
16g.3728935G>ACA394554195CREBBPc.6112C>T (p.Pro2038Ser)
c.5998C>T (p.Pro2000Ser)
c.6067C>T (p.Pro2023Ser)
c.5695C>T (p.Pro1899Ser)
c.5851C>T (p.Pro1951Ser)
c.6058C>T (p.Pro2020Ser)
c.5359C>T (p.Pro1787Ser)
c.6106C>T (p.Pro2036Ser)
 dbSNP
16g.3728935G>CCA394554196CREBBPc.6112C>G (p.Pro2038Ala)
c.5998C>G (p.Pro2000Ala)
c.6067C>G (p.Pro2023Ala)
c.5695C>G (p.Pro1899Ala)
c.5851C>G (p.Pro1951Ala)
c.6058C>G (p.Pro2020Ala)
c.5359C>G (p.Pro1787Ala)
c.6106C>G (p.Pro2036Ala)
 dbSNP
16g.3728935G>TCA394554197CREBBPc.6112C>A (p.Pro2038Thr)
c.5998C>A (p.Pro2000Thr)
c.6067C>A (p.Pro2023Thr)
c.5695C>A (p.Pro1899Thr)
c.5851C>A (p.Pro1951Thr)
c.6058C>A (p.Pro2020Thr)
c.5359C>A (p.Pro1787Thr)
c.6106C>A (p.Pro2036Thr)
16g.3728936C>ACA394554198CREBBPc.6111G>T (p.Arg2037Ser)
c.5997G>T (p.Arg1999Ser)
c.6066G>T (p.Arg2022Ser)
c.5694G>T (p.Arg1898Ser)
c.5850G>T (p.Arg1950Ser)
c.6057G>T (p.Arg2019Ser)
c.5358G>T (p.Arg1786Ser)
c.6105G>T (p.Arg2035Ser)
 dbSNP gnomAD v4
16g.3728936C=CA2202916124CREBBPc.6111G= (p.Arg2037=)
c.5997G= (p.Arg1999=)
c.6066G= (p.Arg2022=)
c.5694G= (p.Arg1898=)
c.5850G= (p.Arg1950=)
c.6057G= (p.Arg2019=)
c.5358G= (p.Arg1786=)
c.6105G= (p.Arg2035=)
16g.3728936C>GCA394554199CREBBPc.6111G>C (p.Arg2037Ser)
c.5997G>C (p.Arg1999Ser)
c.6066G>C (p.Arg2022Ser)
c.5694G>C (p.Arg1898Ser)
c.5850G>C (p.Arg1950Ser)
c.6057G>C (p.Arg2019Ser)
c.5358G>C (p.Arg1786Ser)
c.6105G>C (p.Arg2035Ser)
 ClinVar dbSNP gnomAD v4
16g.3728936C>TCA493393838CREBBPc.6111G>A (p.Arg2037=)
c.5997G>A (p.Arg1999=)
c.6066G>A (p.Arg2022=)
c.5694G>A (p.Arg1898=)
c.5850G>A (p.Arg1950=)
c.6057G>A (p.Arg2019=)
c.5358G>A (p.Arg1786=)
c.6105G>A (p.Arg2035=)
 dbSNP gnomAD v4
16g.3728937C>ACA394554200CREBBPc.6110G>T (p.Arg2037Met)
c.5996G>T (p.Arg1999Met)
c.6065G>T (p.Arg2022Met)
c.5693G>T (p.Arg1898Met)
c.5849G>T (p.Arg1950Met)
c.6056G>T (p.Arg2019Met)
c.5357G>T (p.Arg1786Met)
c.6104G>T (p.Arg2035Met)
 dbSNP gnomAD v4
16g.3728937C=CA2202916125CREBBPc.6110G= (p.Arg2037=)
c.5996G= (p.Arg1999=)
c.6065G= (p.Arg2022=)
c.5693G= (p.Arg1898=)
c.5849G= (p.Arg1950=)
c.6056G= (p.Arg2019=)
c.5357G= (p.Arg1786=)
c.6104G= (p.Arg2035=)
16g.3728937C>GCA394554201CREBBPc.6110G>C (p.Arg2037Thr)
c.5996G>C (p.Arg1999Thr)
c.6065G>C (p.Arg2022Thr)
c.5693G>C (p.Arg1898Thr)
c.5849G>C (p.Arg1950Thr)
c.6056G>C (p.Arg2019Thr)
c.5357G>C (p.Arg1786Thr)
c.6104G>C (p.Arg2035Thr)
 dbSNP
16g.3728937C>TCA394554202CREBBPc.6110G>A (p.Arg2037Lys)
c.5996G>A (p.Arg1999Lys)
c.6065G>A (p.Arg2022Lys)
c.5693G>A (p.Arg1898Lys)
c.5849G>A (p.Arg1950Lys)
c.6056G>A (p.Arg2019Lys)
c.5357G>A (p.Arg1786Lys)
c.6104G>A (p.Arg2035Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728938T>ACA394554203CREBBPc.6109A>T (p.Arg2037Trp)
c.5995A>T (p.Arg1999Trp)
c.6064A>T (p.Arg2022Trp)
c.5692A>T (p.Arg1898Trp)
c.5848A>T (p.Arg1950Trp)
c.6055A>T (p.Arg2019Trp)
c.5356A>T (p.Arg1786Trp)
c.6103A>T (p.Arg2035Trp)
16g.3728938T>CCA394554204CREBBPc.6109A>G (p.Arg2037Gly)
c.5995A>G (p.Arg1999Gly)
c.6064A>G (p.Arg2022Gly)
c.5692A>G (p.Arg1898Gly)
c.5848A>G (p.Arg1950Gly)
c.6055A>G (p.Arg2019Gly)
c.5356A>G (p.Arg1786Gly)
c.6103A>G (p.Arg2035Gly)
 ClinVar gnomAD v4
16g.3728938T>GCA7869182CREBBPc.6109A>C (p.Arg2037=)
c.5995A>C (p.Arg1999=)
c.6064A>C (p.Arg2022=)
c.5692A>C (p.Arg1898=)
c.5848A>C (p.Arg1950=)
c.6055A>C (p.Arg2019=)
c.5356A>C (p.Arg1786=)
c.6103A>C (p.Arg2035=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728938T=CA2202916126CREBBPc.6109A= (p.Arg2037=)
c.5995A= (p.Arg1999=)
c.6064A= (p.Arg2022=)
c.5692A= (p.Arg1898=)
c.5848A= (p.Arg1950=)
c.6055A= (p.Arg2019=)
c.5356A= (p.Arg1786=)
c.6103A= (p.Arg2035=)
16g.3728939G>ACA493393839CREBBPc.6108C>T (p.Pro2036=)
c.5994C>T (p.Pro1998=)
c.6063C>T (p.Pro2021=)
c.5691C>T (p.Pro1897=)
c.5847C>T (p.Pro1949=)
c.6054C>T (p.Pro2018=)
c.5355C>T (p.Pro1785=)
c.6102C>T (p.Pro2034=)
 dbSNP gnomAD v3 gnomAD v4
16g.3728939G>CCA493393840CREBBPc.6108C>G (p.Pro2036=)
c.5994C>G (p.Pro1998=)
c.6063C>G (p.Pro2021=)
c.5691C>G (p.Pro1897=)
c.5847C>G (p.Pro1949=)
c.6054C>G (p.Pro2018=)
c.5355C>G (p.Pro1785=)
c.6102C>G (p.Pro2034=)
16g.3728939G=CA2202916127CREBBPc.6108C= (p.Pro2036=)
c.5994C= (p.Pro1998=)
c.6063C= (p.Pro2021=)
c.5691C= (p.Pro1897=)
c.5847C= (p.Pro1949=)
c.6054C= (p.Pro2018=)
c.5355C= (p.Pro1785=)
c.6102C= (p.Pro2034=)
16g.3728939G>TCA493393841CREBBPc.6108C>A (p.Pro2036=)
c.5994C>A (p.Pro1998=)
c.6063C>A (p.Pro2021=)
c.5691C>A (p.Pro1897=)
c.5847C>A (p.Pro1949=)
c.6054C>A (p.Pro2018=)
c.5355C>A (p.Pro1785=)
c.6102C>A (p.Pro2034=)
16g.3728940G>ACA394554207CREBBPc.6107C>T (p.Pro2036Leu)
c.5993C>T (p.Pro1998Leu)
c.6062C>T (p.Pro2021Leu)
c.5690C>T (p.Pro1897Leu)
c.5846C>T (p.Pro1949Leu)
c.6053C>T (p.Pro2018Leu)
c.5354C>T (p.Pro1785Leu)
c.6101C>T (p.Pro2034Leu)
 dbSNP
16g.3728940G>CCA394554205CREBBPc.6107C>G (p.Pro2036Arg)
c.5993C>G (p.Pro1998Arg)
c.6062C>G (p.Pro2021Arg)
c.5690C>G (p.Pro1897Arg)
c.5846C>G (p.Pro1949Arg)
c.6053C>G (p.Pro2018Arg)
c.5354C>G (p.Pro1785Arg)
c.6101C>G (p.Pro2034Arg)
16g.3728940G>TCA394554206CREBBPc.6107C>A (p.Pro2036His)
c.5993C>A (p.Pro1998His)
c.6062C>A (p.Pro2021His)
c.5690C>A (p.Pro1897His)
c.5846C>A (p.Pro1949His)
c.6053C>A (p.Pro2018His)
c.5354C>A (p.Pro1785His)
c.6101C>A (p.Pro2034His)
16g.3728941G>ACA394554208CREBBPc.6106C>T (p.Pro2036Ser)
c.5992C>T (p.Pro1998Ser)
c.6061C>T (p.Pro2021Ser)
c.5689C>T (p.Pro1897Ser)
c.5845C>T (p.Pro1949Ser)
c.6052C>T (p.Pro2018Ser)
c.5353C>T (p.Pro1785Ser)
c.6100C>T (p.Pro2034Ser)
 dbSNP gnomAD v4
16g.3728941G>CCA394554209CREBBPc.6106C>G (p.Pro2036Ala)
c.5992C>G (p.Pro1998Ala)
c.6061C>G (p.Pro2021Ala)
c.5689C>G (p.Pro1897Ala)
c.5845C>G (p.Pro1949Ala)
c.6052C>G (p.Pro2018Ala)
c.5353C>G (p.Pro1785Ala)
c.6100C>G (p.Pro2034Ala)
 dbSNP COSMIC
16g.3728941G=CA2202916128CREBBPc.6106C= (p.Pro2036=)
c.5992C= (p.Pro1998=)
c.6061C= (p.Pro2021=)
c.5689C= (p.Pro1897=)
c.5845C= (p.Pro1949=)
c.6052C= (p.Pro2018=)
c.5353C= (p.Pro1785=)
c.6100C= (p.Pro2034=)
16g.3728941G>TCA394554210CREBBPc.6106C>A (p.Pro2036Thr)
c.5992C>A (p.Pro1998Thr)
c.6061C>A (p.Pro2021Thr)
c.5689C>A (p.Pro1897Thr)
c.5845C>A (p.Pro1949Thr)
c.6052C>A (p.Pro2018Thr)
c.5353C>A (p.Pro1785Thr)
c.6100C>A (p.Pro2034Thr)
16g.3728942C>ACA394554211CREBBPc.6105G>T (p.Leu2035Phe)
c.5991G>T (p.Leu1997Phe)
c.6060G>T (p.Leu2020Phe)
c.5688G>T (p.Leu1896Phe)
c.5844G>T (p.Leu1948Phe)
c.6051G>T (p.Leu2017Phe)
c.5352G>T (p.Leu1784Phe)
c.6099G>T (p.Leu2033Phe)
 dbSNP gnomAD v4
16g.3728942C>GCA394554212CREBBPc.6105G>C (p.Leu2035Phe)
c.5991G>C (p.Leu1997Phe)
c.6060G>C (p.Leu2020Phe)
c.5688G>C (p.Leu1896Phe)
c.5844G>C (p.Leu1948Phe)
c.6051G>C (p.Leu2017Phe)
c.5352G>C (p.Leu1784Phe)
c.6099G>C (p.Leu2033Phe)
 dbSNP
16g.3728942C>TCA493393842CREBBPc.6105G>A (p.Leu2035=)
c.5991G>A (p.Leu1997=)
c.6060G>A (p.Leu2020=)
c.5688G>A (p.Leu1896=)
c.5844G>A (p.Leu1948=)
c.6051G>A (p.Leu2017=)
c.5352G>A (p.Leu1784=)
c.6099G>A (p.Leu2033=)
 dbSNP gnomAD v4
16g.3728942_3728943delinsCACA2202916129CREBBPc.6104_6105delinsTG (p.Leu2035=)
c.5990_5991delinsTG (p.Leu1997=)
c.6059_6060delinsTG (p.Leu2020=)
c.5687_5688delinsTG (p.Leu1896=)
c.5843_5844delinsTG (p.Leu1948=)
c.6050_6051delinsTG (p.Leu2017=)
c.5351_5352delinsTG (p.Leu1784=)
c.6098_6099delinsTG (p.Leu2033=)
16g.3728943A>CCA394554213CREBBPc.6104T>G (p.Leu2035Trp)
c.5990T>G (p.Leu1997Trp)
c.6059T>G (p.Leu2020Trp)
c.5687T>G (p.Leu1896Trp)
c.5843T>G (p.Leu1948Trp)
c.6050T>G (p.Leu2017Trp)
c.5351T>G (p.Leu1784Trp)
c.6098T>G (p.Leu2033Trp)
 dbSNP
16g.3728943A>GCA394554215CREBBPc.6104T>C (p.Leu2035Ser)
c.5990T>C (p.Leu1997Ser)
c.6059T>C (p.Leu2020Ser)
c.5687T>C (p.Leu1896Ser)
c.5843T>C (p.Leu1948Ser)
c.6050T>C (p.Leu2017Ser)
c.5351T>C (p.Leu1784Ser)
c.6098T>C (p.Leu2033Ser)
 dbSNP
16g.3728943A>TCA394554214CREBBPc.6104T>A (p.Leu2035Ter)
c.5990T>A (p.Leu1997Ter)
c.6059T>A (p.Leu2020Ter)
c.5687T>A (p.Leu1896Ter)
c.5843T>A (p.Leu1948Ter)
c.6050T>A (p.Leu2017Ter)
c.5351T>A (p.Leu1784Ter)
c.6098T>A (p.Leu2033Ter)
 dbSNP
16g.3728944delCA1139664467CREBBPc.6104del (p.Leu2035CysfsTer5)
c.5990del (p.Leu1997CysfsTer5)
c.6059del (p.Leu2020CysfsTer5)
c.5687del (p.Leu1896CysfsTer5)
c.5843del (p.Leu1948CysfsTer5)
c.6050del (p.Leu2017CysfsTer5)
c.5351del (p.Leu1784CysfsTer5)
c.6098del (p.Leu2033CysfsTer5)
 ClinVar dbSNP
16g.3728944A>CCA394554216CREBBPc.6103T>G (p.Leu2035Val)
c.5989T>G (p.Leu1997Val)
c.6058T>G (p.Leu2020Val)
c.5686T>G (p.Leu1896Val)
c.5842T>G (p.Leu1948Val)
c.6049T>G (p.Leu2017Val)
c.5350T>G (p.Leu1784Val)
c.6097T>G (p.Leu2033Val)
 dbSNP
16g.3728944A>GCA493393843CREBBPc.6103T>C (p.Leu2035=)
c.5989T>C (p.Leu1997=)
c.6058T>C (p.Leu2020=)
c.5686T>C (p.Leu1896=)
c.5842T>C (p.Leu1948=)
c.6049T>C (p.Leu2017=)
c.5350T>C (p.Leu1784=)
c.6097T>C (p.Leu2033=)
 dbSNP
16g.3728944A>TCA394554217CREBBPc.6103T>A (p.Leu2035Met)
c.5989T>A (p.Leu1997Met)
c.6058T>A (p.Leu2020Met)
c.5686T>A (p.Leu1896Met)
c.5842T>A (p.Leu1948Met)
c.6049T>A (p.Leu2017Met)
c.5350T>A (p.Leu1784Met)
c.6097T>A (p.Leu2033Met)
 dbSNP
16g.3728945G>ACA493393844CREBBPc.6102C>T (p.Gly2034=)
c.5988C>T (p.Gly1996=)
c.6057C>T (p.Gly2019=)
c.5685C>T (p.Gly1895=)
c.5841C>T (p.Gly1947=)
c.6048C>T (p.Gly2016=)
c.5349C>T (p.Gly1783=)
c.6096C>T (p.Gly2032=)
 ClinVar dbSNP
16g.3728945G>CCA493393845CREBBPc.6102C>G (p.Gly2034=)
c.5988C>G (p.Gly1996=)
c.6057C>G (p.Gly2019=)
c.5685C>G (p.Gly1895=)
c.5841C>G (p.Gly1947=)
c.6048C>G (p.Gly2016=)
c.5349C>G (p.Gly1783=)
c.6096C>G (p.Gly2032=)
 gnomAD v4
16g.3728945G>TCA493393846CREBBPc.6102C>A (p.Gly2034=)
c.5988C>A (p.Gly1996=)
c.6057C>A (p.Gly2019=)
c.5685C>A (p.Gly1895=)
c.5841C>A (p.Gly1947=)
c.6048C>A (p.Gly2016=)
c.5349C>A (p.Gly1783=)
c.6096C>A (p.Gly2032=)
 gnomAD v4
16g.3728946C>ACA394554218CREBBPc.6101G>T (p.Gly2034Val)
c.5987G>T (p.Gly1996Val)
c.6056G>T (p.Gly2019Val)
c.5684G>T (p.Gly1895Val)
c.5840G>T (p.Gly1947Val)
c.6047G>T (p.Gly2016Val)
c.5348G>T (p.Gly1783Val)
c.6095G>T (p.Gly2032Val)
 dbSNP
16g.3728946C>GCA394554220CREBBPc.6101G>C (p.Gly2034Ala)
c.5987G>C (p.Gly1996Ala)
c.6056G>C (p.Gly2019Ala)
c.5684G>C (p.Gly1895Ala)
c.5840G>C (p.Gly1947Ala)
c.6047G>C (p.Gly2016Ala)
c.5348G>C (p.Gly1783Ala)
c.6095G>C (p.Gly2032Ala)
 dbSNP gnomAD v4
16g.3728946C>TCA394554221CREBBPc.6101G>A (p.Gly2034Asp)
c.5987G>A (p.Gly1996Asp)
c.6056G>A (p.Gly2019Asp)
c.5684G>A (p.Gly1895Asp)
c.5840G>A (p.Gly1947Asp)
c.6047G>A (p.Gly2016Asp)
c.5348G>A (p.Gly1783Asp)
c.6095G>A (p.Gly2032Asp)
 dbSNP gnomAD v4
16g.3728947C>ACA394554224CREBBPc.6100G>T (p.Gly2034Cys)
c.5986G>T (p.Gly1996Cys)
c.6055G>T (p.Gly2019Cys)
c.5683G>T (p.Gly1895Cys)
c.5839G>T (p.Gly1947Cys)
c.6046G>T (p.Gly2016Cys)
c.5347G>T (p.Gly1783Cys)
c.6094G>T (p.Gly2032Cys)
16g.3728947C>GCA394554225CREBBPc.6100G>C (p.Gly2034Arg)
c.5986G>C (p.Gly1996Arg)
c.6055G>C (p.Gly2019Arg)
c.5683G>C (p.Gly1895Arg)
c.5839G>C (p.Gly1947Arg)
c.6046G>C (p.Gly2016Arg)
c.5347G>C (p.Gly1783Arg)
c.6094G>C (p.Gly2032Arg)
 dbSNP
16g.3728947C>TCA394554227CREBBPc.6100G>A (p.Gly2034Ser)
c.5986G>A (p.Gly1996Ser)
c.6055G>A (p.Gly2019Ser)
c.5683G>A (p.Gly1895Ser)
c.5839G>A (p.Gly1947Ser)
c.6046G>A (p.Gly2016Ser)
c.5347G>A (p.Gly1783Ser)
c.6094G>A (p.Gly2032Ser)
 dbSNP
16g.3728948T>ACA493393848CREBBPc.6099A>T (p.Pro2033=)
c.5985A>T (p.Pro1995=)
c.6054A>T (p.Pro2018=)
c.5682A>T (p.Pro1894=)
c.5838A>T (p.Pro1946=)
c.6045A>T (p.Pro2015=)
c.5346A>T (p.Pro1782=)
c.6093A>T (p.Pro2031=)
16g.3728948T>CCA493393849CREBBPc.6099A>G (p.Pro2033=)
c.5985A>G (p.Pro1995=)
c.6054A>G (p.Pro2018=)
c.5682A>G (p.Pro1894=)
c.5838A>G (p.Pro1946=)
c.6045A>G (p.Pro2015=)
c.5346A>G (p.Pro1782=)
c.6093A>G (p.Pro2031=)
16g.3728948T>GCA493393851CREBBPc.6099A>C (p.Pro2033=)
c.5985A>C (p.Pro1995=)
c.6054A>C (p.Pro2018=)
c.5682A>C (p.Pro1894=)
c.5838A>C (p.Pro1946=)
c.6045A>C (p.Pro2015=)
c.5346A>C (p.Pro1782=)
c.6093A>C (p.Pro2031=)
16g.3728949G>ACA394554230CREBBPc.6098C>T (p.Pro2033Leu)
c.5984C>T (p.Pro1995Leu)
c.6053C>T (p.Pro2018Leu)
c.5681C>T (p.Pro1894Leu)
c.5837C>T (p.Pro1946Leu)
c.6044C>T (p.Pro2015Leu)
c.5345C>T (p.Pro1782Leu)
c.6092C>T (p.Pro2031Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3728949G>CCA394554231CREBBPc.6098C>G (p.Pro2033Arg)
c.5984C>G (p.Pro1995Arg)
c.6053C>G (p.Pro2018Arg)
c.5681C>G (p.Pro1894Arg)
c.5837C>G (p.Pro1946Arg)
c.6044C>G (p.Pro2015Arg)
c.5345C>G (p.Pro1782Arg)
c.6092C>G (p.Pro2031Arg)
 gnomAD v4
16g.3728949G=CA2202916130CREBBPc.6098C= (p.Pro2033=)
c.5984C= (p.Pro1995=)
c.6053C= (p.Pro2018=)
c.5681C= (p.Pro1894=)
c.5837C= (p.Pro1946=)
c.6044C= (p.Pro2015=)
c.5345C= (p.Pro1782=)
c.6092C= (p.Pro2031=)
16g.3728949G>TCA394554233CREBBPc.6098C>A (p.Pro2033Gln)
c.5984C>A (p.Pro1995Gln)
c.6053C>A (p.Pro2018Gln)
c.5681C>A (p.Pro1894Gln)
c.5837C>A (p.Pro1946Gln)
c.6044C>A (p.Pro2015Gln)
c.5345C>A (p.Pro1782Gln)
c.6092C>A (p.Pro2031Gln)
 gnomAD v4
16g.3728950G>ACA394554235CREBBPc.6097C>T (p.Pro2033Ser)
c.5983C>T (p.Pro1995Ser)
c.6052C>T (p.Pro2018Ser)
c.5680C>T (p.Pro1894Ser)
c.5836C>T (p.Pro1946Ser)
c.6043C>T (p.Pro2015Ser)
c.5344C>T (p.Pro1782Ser)
c.6091C>T (p.Pro2031Ser)
 dbSNP
16g.3728950G>CCA394554238CREBBPc.6097C>G (p.Pro2033Ala)
c.5983C>G (p.Pro1995Ala)
c.6052C>G (p.Pro2018Ala)
c.5680C>G (p.Pro1894Ala)
c.5836C>G (p.Pro1946Ala)
c.6043C>G (p.Pro2015Ala)
c.5344C>G (p.Pro1782Ala)
c.6091C>G (p.Pro2031Ala)
 dbSNP
16g.3728950G>TCA394554237CREBBPc.6097C>A (p.Pro2033Thr)
c.5983C>A (p.Pro1995Thr)
c.6052C>A (p.Pro2018Thr)
c.5680C>A (p.Pro1894Thr)
c.5836C>A (p.Pro1946Thr)
c.6043C>A (p.Pro2015Thr)
c.5344C>A (p.Pro1782Thr)
c.6091C>A (p.Pro2031Thr)
 dbSNP
16g.3728951C>ACA394554240CREBBPc.6096G>T (p.Met2032Ile)
c.5982G>T (p.Met1994Ile)
c.6051G>T (p.Met2017Ile)
c.5679G>T (p.Met1893Ile)
c.5835G>T (p.Met1945Ile)
c.6042G>T (p.Met2014Ile)
c.5343G>T (p.Met1781Ile)
c.6090G>T (p.Met2030Ile)
 dbSNP gnomAD v4
16g.3728951C>GCA394554244CREBBPc.6096G>C (p.Met2032Ile)
c.5982G>C (p.Met1994Ile)
c.6051G>C (p.Met2017Ile)
c.5679G>C (p.Met1893Ile)
c.5835G>C (p.Met1945Ile)
c.6042G>C (p.Met2014Ile)
c.5343G>C (p.Met1781Ile)
c.6090G>C (p.Met2030Ile)
 dbSNP
16g.3728951C>TCA394554242CREBBPc.6096G>A (p.Met2032Ile)
c.5982G>A (p.Met1994Ile)
c.6051G>A (p.Met2017Ile)
c.5679G>A (p.Met1893Ile)
c.5835G>A (p.Met1945Ile)
c.6042G>A (p.Met2014Ile)
c.5343G>A (p.Met1781Ile)
c.6090G>A (p.Met2030Ile)
 dbSNP
16g.3728952A>CCA394554245CREBBPc.6095T>G (p.Met2032Arg)
c.5981T>G (p.Met1994Arg)
c.6050T>G (p.Met2017Arg)
c.5678T>G (p.Met1893Arg)
c.5834T>G (p.Met1945Arg)
c.6041T>G (p.Met2014Arg)
c.5342T>G (p.Met1781Arg)
c.6089T>G (p.Met2030Arg)
 dbSNP
16g.3728952A>GCA394554247CREBBPc.6095T>C (p.Met2032Thr)
c.5981T>C (p.Met1994Thr)
c.6050T>C (p.Met2017Thr)
c.5678T>C (p.Met1893Thr)
c.5834T>C (p.Met1945Thr)
c.6041T>C (p.Met2014Thr)
c.5342T>C (p.Met1781Thr)
c.6089T>C (p.Met2030Thr)
 dbSNP
16g.3728952A>TCA394554249CREBBPc.6095T>A (p.Met2032Lys)
c.5981T>A (p.Met1994Lys)
c.6050T>A (p.Met2017Lys)
c.5678T>A (p.Met1893Lys)
c.5834T>A (p.Met1945Lys)
c.6041T>A (p.Met2014Lys)
c.5342T>A (p.Met1781Lys)
c.6089T>A (p.Met2030Lys)
 dbSNP
16g.3728953T>ACA394554251CREBBPc.6094A>T (p.Met2032Leu)
c.5980A>T (p.Met1994Leu)
c.6049A>T (p.Met2017Leu)
c.5677A>T (p.Met1893Leu)
c.5833A>T (p.Met1945Leu)
c.6040A>T (p.Met2014Leu)
c.5341A>T (p.Met1781Leu)
c.6088A>T (p.Met2030Leu)
16g.3728953T>CCA394554253CREBBPc.6094A>G (p.Met2032Val)
c.5980A>G (p.Met1994Val)
c.6049A>G (p.Met2017Val)
c.5677A>G (p.Met1893Val)
c.5833A>G (p.Met1945Val)
c.6040A>G (p.Met2014Val)
c.5341A>G (p.Met1781Val)
c.6088A>G (p.Met2030Val)
16g.3728953T>GCA394554255CREBBPc.6094A>C (p.Met2032Leu)
c.5980A>C (p.Met1994Leu)
c.6049A>C (p.Met2017Leu)
c.5677A>C (p.Met1893Leu)
c.5833A>C (p.Met1945Leu)
c.6040A>C (p.Met2014Leu)
c.5341A>C (p.Met1781Leu)
c.6088A>C (p.Met2030Leu)
16g.3728954G>ACA493393859CREBBPc.6093C>T (p.Pro2031=)
c.5979C>T (p.Pro1993=)
c.6048C>T (p.Pro2016=)
c.5676C>T (p.Pro1892=)
c.5832C>T (p.Pro1944=)
c.6039C>T (p.Pro2013=)
c.5340C>T (p.Pro1780=)
c.6087C>T (p.Pro2029=)
 dbSNP
16g.3728954G>CCA493393858CREBBPc.6093C>G (p.Pro2031=)
c.5979C>G (p.Pro1993=)
c.6048C>G (p.Pro2016=)
c.5676C>G (p.Pro1892=)
c.5832C>G (p.Pro1944=)
c.6039C>G (p.Pro2013=)
c.5340C>G (p.Pro1780=)
c.6087C>G (p.Pro2029=)
 dbSNP gnomAD v4
16g.3728954G>TCA493393856CREBBPc.6093C>A (p.Pro2031=)
c.5979C>A (p.Pro1993=)
c.6048C>A (p.Pro2016=)
c.5676C>A (p.Pro1892=)
c.5832C>A (p.Pro1944=)
c.6039C>A (p.Pro2013=)
c.5340C>A (p.Pro1780=)
c.6087C>A (p.Pro2029=)
 dbSNP gnomAD v4
16g.3728955G>ACA394554257CREBBPc.6092C>T (p.Pro2031Leu)
c.5978C>T (p.Pro1993Leu)
c.6047C>T (p.Pro2016Leu)
c.5675C>T (p.Pro1892Leu)
c.5831C>T (p.Pro1944Leu)
c.6038C>T (p.Pro2013Leu)
c.5339C>T (p.Pro1780Leu)
c.6086C>T (p.Pro2029Leu)
16g.3728955G>CCA394554259CREBBPc.6092C>G (p.Pro2031Arg)
c.5978C>G (p.Pro1993Arg)
c.6047C>G (p.Pro2016Arg)
c.5675C>G (p.Pro1892Arg)
c.5831C>G (p.Pro1944Arg)
c.6038C>G (p.Pro2013Arg)
c.5339C>G (p.Pro1780Arg)
c.6086C>G (p.Pro2029Arg)
16g.3728955G=CA2202916131CREBBPc.6092C= (p.Pro2031=)
c.5978C= (p.Pro1993=)
c.6047C= (p.Pro2016=)
c.5675C= (p.Pro1892=)
c.5831C= (p.Pro1944=)
c.6038C= (p.Pro2013=)
c.5339C= (p.Pro1780=)
c.6086C= (p.Pro2029=)
16g.3728955G>TCA394554261CREBBPc.6092C>A (p.Pro2031His)
c.5978C>A (p.Pro1993His)
c.6047C>A (p.Pro2016His)
c.5675C>A (p.Pro1892His)
c.5831C>A (p.Pro1944His)
c.6038C>A (p.Pro2013His)
c.5339C>A (p.Pro1780His)
c.6086C>A (p.Pro2029His)
 dbSNP gnomAD v2 gnomAD v4
16g.3728956G>ACA394554267CREBBPc.6091C>T (p.Pro2031Ser)
c.5977C>T (p.Pro1993Ser)
c.6046C>T (p.Pro2016Ser)
c.5674C>T (p.Pro1892Ser)
c.5830C>T (p.Pro1944Ser)
c.6037C>T (p.Pro2013Ser)
c.5338C>T (p.Pro1780Ser)
c.6085C>T (p.Pro2029Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3728956G>CCA394554265CREBBPc.6091C>G (p.Pro2031Ala)
c.5977C>G (p.Pro1993Ala)
c.6046C>G (p.Pro2016Ala)
c.5674C>G (p.Pro1892Ala)
c.5830C>G (p.Pro1944Ala)
c.6037C>G (p.Pro2013Ala)
c.5338C>G (p.Pro1780Ala)
c.6085C>G (p.Pro2029Ala)
 dbSNP
16g.3728956G=CA2202916132CREBBPc.6091C= (p.Pro2031=)
c.5977C= (p.Pro1993=)
c.6046C= (p.Pro2016=)
c.5674C= (p.Pro1892=)
c.5830C= (p.Pro1944=)
c.6037C= (p.Pro2013=)
c.5338C= (p.Pro1780=)
c.6085C= (p.Pro2029=)
16g.3728956G>TCA394554263CREBBPc.6091C>A (p.Pro2031Thr)
c.5977C>A (p.Pro1993Thr)
c.6046C>A (p.Pro2016Thr)
c.5674C>A (p.Pro1892Thr)
c.5830C>A (p.Pro1944Thr)
c.6037C>A (p.Pro2013Thr)
c.5338C>A (p.Pro1780Thr)
c.6085C>A (p.Pro2029Thr)
 dbSNP gnomAD v4
16g.3728957C>ACA394554270CREBBPc.6090G>T (p.Gln2030His)
c.5976G>T (p.Gln1992His)
c.6045G>T (p.Gln2015His)
c.5673G>T (p.Gln1891His)
c.5829G>T (p.Gln1943His)
c.6036G>T (p.Gln2012His)
c.5337G>T (p.Gln1779His)
c.6084G>T (p.Gln2028His)
 gnomAD v4
16g.3728957C=CA2202916133CREBBPc.6090G= (p.Gln2030=)
c.5976G= (p.Gln1992=)
c.6045G= (p.Gln2015=)
c.5673G= (p.Gln1891=)
c.5829G= (p.Gln1943=)
c.6036G= (p.Gln2012=)
c.5337G= (p.Gln1779=)
c.6084G= (p.Gln2028=)
16g.3728957C>GCA394554271CREBBPc.6090G>C (p.Gln2030His)
c.5976G>C (p.Gln1992His)
c.6045G>C (p.Gln2015His)
c.5673G>C (p.Gln1891His)
c.5829G>C (p.Gln1943His)
c.6036G>C (p.Gln2012His)
c.5337G>C (p.Gln1779His)
c.6084G>C (p.Gln2028His)
 dbSNP
16g.3728957C>TCA171802CREBBPc.6090G>A (p.Gln2030=)
c.5976G>A (p.Gln1992=)
c.6045G>A (p.Gln2015=)
c.5673G>A (p.Gln1891=)
c.5829G>A (p.Gln1943=)
c.6036G>A (p.Gln2012=)
c.5337G>A (p.Gln1779=)
c.6084G>A (p.Gln2028=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728958T>ACA394554274CREBBPc.6089A>T (p.Gln2030Leu)
c.5975A>T (p.Gln1992Leu)
c.6044A>T (p.Gln2015Leu)
c.5672A>T (p.Gln1891Leu)
c.5828A>T (p.Gln1943Leu)
c.6035A>T (p.Gln2012Leu)
c.5336A>T (p.Gln1779Leu)
c.6083A>T (p.Gln2028Leu)
 dbSNP
16g.3728958T>CCA394554276CREBBPc.6089A>G (p.Gln2030Arg)
c.5975A>G (p.Gln1992Arg)
c.6044A>G (p.Gln2015Arg)
c.5672A>G (p.Gln1891Arg)
c.5828A>G (p.Gln1943Arg)
c.6035A>G (p.Gln2012Arg)
c.5336A>G (p.Gln1779Arg)
c.6083A>G (p.Gln2028Arg)
 dbSNP
16g.3728958T>GCA276971782CREBBPc.6089A>C (p.Gln2030Pro)
c.5975A>C (p.Gln1992Pro)
c.6044A>C (p.Gln2015Pro)
c.5672A>C (p.Gln1891Pro)
c.5828A>C (p.Gln1943Pro)
c.6035A>C (p.Gln2012Pro)
c.5336A>C (p.Gln1779Pro)
c.6083A>C (p.Gln2028Pro)
 dbSNP
16g.3728958T=CA2202916134CREBBPc.6089A= (p.Gln2030=)
c.5975A= (p.Gln1992=)
c.6044A= (p.Gln2015=)
c.5672A= (p.Gln1891=)
c.5828A= (p.Gln1943=)
c.6035A= (p.Gln2012=)
c.5336A= (p.Gln1779=)
c.6083A= (p.Gln2028=)
16g.3728959G>ACA271436CREBBPc.6088C>T (p.Gln2030Ter)
c.5974C>T (p.Gln1992Ter)
c.6043C>T (p.Gln2015Ter)
c.5671C>T (p.Gln1891Ter)
c.5827C>T (p.Gln1943Ter)
c.6034C>T (p.Gln2012Ter)
c.5335C>T (p.Gln1779Ter)
c.6082C>T (p.Gln2028Ter)
 ClinVar dbSNP gnomAD v4
16g.3728959G>CCA394554280CREBBPc.6088C>G (p.Gln2030Glu)
c.5974C>G (p.Gln1992Glu)
c.6043C>G (p.Gln2015Glu)
c.5671C>G (p.Gln1891Glu)
c.5827C>G (p.Gln1943Glu)
c.6034C>G (p.Gln2012Glu)
c.5335C>G (p.Gln1779Glu)
c.6082C>G (p.Gln2028Glu)
16g.3728959G=CA2202916135CREBBPc.6088C= (p.Gln2030=)
c.5974C= (p.Gln1992=)
c.6043C= (p.Gln2015=)
c.5671C= (p.Gln1891=)
c.5827C= (p.Gln1943=)
c.6034C= (p.Gln2012=)
c.5335C= (p.Gln1779=)
c.6082C= (p.Gln2028=)
16g.3728959G>TCA394554282CREBBPc.6088C>A (p.Gln2030Lys)
c.5974C>A (p.Gln1992Lys)
c.6043C>A (p.Gln2015Lys)
c.5671C>A (p.Gln1891Lys)
c.5827C>A (p.Gln1943Lys)
c.6034C>A (p.Gln2012Lys)
c.5335C>A (p.Gln1779Lys)
c.6082C>A (p.Gln2028Lys)
 gnomAD v4
16g.3728960C>ACA394554284CREBBPc.6087G>T (p.Gln2029His)
c.5973G>T (p.Gln1991His)
c.6042G>T (p.Gln2014His)
c.5670G>T (p.Gln1890His)
c.5826G>T (p.Gln1942His)
c.6033G>T (p.Gln2011His)
c.5334G>T (p.Gln1778His)
c.6081G>T (p.Gln2027His)
 COSMIC
16g.3728960C=CA2202916136CREBBPc.6087G= (p.Gln2029=)
c.5973G= (p.Gln1991=)
c.6042G= (p.Gln2014=)
c.5670G= (p.Gln1890=)
c.5826G= (p.Gln1942=)
c.6033G= (p.Gln2011=)
c.5334G= (p.Gln1778=)
c.6081G= (p.Gln2027=)
16g.3728960C>GCA394554286CREBBPc.6087G>C (p.Gln2029His)
c.5973G>C (p.Gln1991His)
c.6042G>C (p.Gln2014His)
c.5670G>C (p.Gln1890His)
c.5826G>C (p.Gln1942His)
c.6033G>C (p.Gln2011His)
c.5334G>C (p.Gln1778His)
c.6081G>C (p.Gln2027His)
 dbSNP
16g.3728960C>TCA493393864CREBBPc.6087G>A (p.Gln2029=)
c.5973G>A (p.Gln1991=)
c.6042G>A (p.Gln2014=)
c.5670G>A (p.Gln1890=)
c.5826G>A (p.Gln1942=)
c.6033G>A (p.Gln2011=)
c.5334G>A (p.Gln1778=)
c.6081G>A (p.Gln2027=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728961T>ACA394554289CREBBPc.6086A>T (p.Gln2029Leu)
c.5972A>T (p.Gln1991Leu)
c.6041A>T (p.Gln2014Leu)
c.5669A>T (p.Gln1890Leu)
c.5825A>T (p.Gln1942Leu)
c.6032A>T (p.Gln2011Leu)
c.5333A>T (p.Gln1778Leu)
c.6080A>T (p.Gln2027Leu)
 dbSNP
16g.3728961T>CCA394554291CREBBPc.6086A>G (p.Gln2029Arg)
c.5972A>G (p.Gln1991Arg)
c.6041A>G (p.Gln2014Arg)
c.5669A>G (p.Gln1890Arg)
c.5825A>G (p.Gln1942Arg)
c.6032A>G (p.Gln2011Arg)
c.5333A>G (p.Gln1778Arg)
c.6080A>G (p.Gln2027Arg)
16g.3728961T>GCA394554287CREBBPc.6086A>C (p.Gln2029Pro)
c.5972A>C (p.Gln1991Pro)
c.6041A>C (p.Gln2014Pro)
c.5669A>C (p.Gln1890Pro)
c.5825A>C (p.Gln1942Pro)
c.6032A>C (p.Gln2011Pro)
c.5333A>C (p.Gln1778Pro)
c.6080A>C (p.Gln2027Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.3728961T=CA2202916137CREBBPc.6086A= (p.Gln2029=)
c.5972A= (p.Gln1991=)
c.6041A= (p.Gln2014=)
c.5669A= (p.Gln1890=)
c.5825A= (p.Gln1942=)
c.6032A= (p.Gln2011=)
c.5333A= (p.Gln1778=)
c.6080A= (p.Gln2027=)
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.3728962G>ACA394554293CREBBPc.6085C>T (p.Gln2029Ter)
c.5971C>T (p.Gln1991Ter)
c.6040C>T (p.Gln2014Ter)
c.5668C>T (p.Gln1890Ter)
c.5824C>T (p.Gln1942Ter)
c.6031C>T (p.Gln2011Ter)
c.5332C>T (p.Gln1778Ter)
c.6079C>T (p.Gln2027Ter)
 dbSNP
16g.3728962G>CCA394554295CREBBPc.6085C>G (p.Gln2029Glu)
c.5971C>G (p.Gln1991Glu)
c.6040C>G (p.Gln2014Glu)
c.5668C>G (p.Gln1890Glu)
c.5824C>G (p.Gln1942Glu)
c.6031C>G (p.Gln2011Glu)
c.5332C>G (p.Gln1778Glu)
c.6079C>G (p.Gln2027Glu)
16g.3728962G>TCA394554297CREBBPc.6085C>A (p.Gln2029Lys)
c.5971C>A (p.Gln1991Lys)
c.6040C>A (p.Gln2014Lys)
c.5668C>A (p.Gln1890Lys)
c.5824C>A (p.Gln1942Lys)
c.6031C>A (p.Gln2011Lys)
c.5332C>A (p.Gln1778Lys)
c.6079C>A (p.Gln2027Lys)
 gnomAD v4
16g.3728963C>ACA394554299CREBBPc.6084G>T (p.Gln2028His)
c.5970G>T (p.Gln1990His)
c.6039G>T (p.Gln2013His)
c.5667G>T (p.Gln1889His)
c.5823G>T (p.Gln1941His)
c.6030G>T (p.Gln2010His)
c.5331G>T (p.Gln1777His)
c.6078G>T (p.Gln2026His)
16g.3728963C=CA2202916138CREBBPc.6084G= (p.Gln2028=)
c.5970G= (p.Gln1990=)
c.6039G= (p.Gln2013=)
c.5667G= (p.Gln1889=)
c.5823G= (p.Gln1941=)
c.6030G= (p.Gln2010=)
c.5331G= (p.Gln1777=)
c.6078G= (p.Gln2026=)
16g.3728963C>GCA394554301CREBBPc.6084G>C (p.Gln2028His)
c.5970G>C (p.Gln1990His)
c.6039G>C (p.Gln2013His)
c.5667G>C (p.Gln1889His)
c.5823G>C (p.Gln1941His)
c.6030G>C (p.Gln2010His)
c.5331G>C (p.Gln1777His)
c.6078G>C (p.Gln2026His)
16g.3728963C>TCA7869183CREBBPc.6084G>A (p.Gln2028=)
c.5970G>A (p.Gln1990=)
c.6039G>A (p.Gln2013=)
c.5667G>A (p.Gln1889=)
c.5823G>A (p.Gln1941=)
c.6030G>A (p.Gln2010=)
c.5331G>A (p.Gln1777=)
c.6078G>A (p.Gln2026=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728964T>ACA394554304CREBBPc.6083A>T (p.Gln2028Leu)
c.5969A>T (p.Gln1990Leu)
c.6038A>T (p.Gln2013Leu)
c.5666A>T (p.Gln1889Leu)
c.5822A>T (p.Gln1941Leu)
c.6029A>T (p.Gln2010Leu)
c.5330A>T (p.Gln1777Leu)
c.6077A>T (p.Gln2026Leu)
16g.3728964T>CCA394554306CREBBPc.6083A>G (p.Gln2028Arg)
c.5969A>G (p.Gln1990Arg)
c.6038A>G (p.Gln2013Arg)
c.5666A>G (p.Gln1889Arg)
c.5822A>G (p.Gln1941Arg)
c.6029A>G (p.Gln2010Arg)
c.5330A>G (p.Gln1777Arg)
c.6077A>G (p.Gln2026Arg)
16g.3728964T>GCA394554308CREBBPc.6083A>C (p.Gln2028Pro)
c.5969A>C (p.Gln1990Pro)
c.6038A>C (p.Gln2013Pro)
c.5666A>C (p.Gln1889Pro)
c.5822A>C (p.Gln1941Pro)
c.6029A>C (p.Gln2010Pro)
c.5330A>C (p.Gln1777Pro)
c.6077A>C (p.Gln2026Pro)
16g.3728965G>ACA394554309CREBBPc.6082C>T (p.Gln2028Ter)
c.5968C>T (p.Gln1990Ter)
c.6037C>T (p.Gln2013Ter)
c.5665C>T (p.Gln1889Ter)
c.5821C>T (p.Gln1941Ter)
c.6028C>T (p.Gln2010Ter)
c.5329C>T (p.Gln1777Ter)
c.6076C>T (p.Gln2026Ter)
 gnomAD v4
16g.3728965G>CCA394554311CREBBPc.6082C>G (p.Gln2028Glu)
c.5968C>G (p.Gln1990Glu)
c.6037C>G (p.Gln2013Glu)
c.5665C>G (p.Gln1889Glu)
c.5821C>G (p.Gln1941Glu)
c.6028C>G (p.Gln2010Glu)
c.5329C>G (p.Gln1777Glu)
c.6076C>G (p.Gln2026Glu)
16g.3728965G>TCA394554313CREBBPc.6082C>A (p.Gln2028Lys)
c.5968C>A (p.Gln1990Lys)
c.6037C>A (p.Gln2013Lys)
c.5665C>A (p.Gln1889Lys)
c.5821C>A (p.Gln1941Lys)
c.6028C>A (p.Gln2010Lys)
c.5329C>A (p.Gln1777Lys)
c.6076C>A (p.Gln2026Lys)
 gnomAD v4
16g.3728966G>ACA493393870CREBBPc.6081C>T (p.Pro2027=)
c.5967C>T (p.Pro1989=)
c.6036C>T (p.Pro2012=)
c.5664C>T (p.Pro1888=)
c.5820C>T (p.Pro1940=)
c.6027C>T (p.Pro2009=)
c.5328C>T (p.Pro1776=)
c.6075C>T (p.Pro2025=)
 dbSNP gnomAD v4
16g.3728966G>CCA493393871CREBBPc.6081C>G (p.Pro2027=)
c.5967C>G (p.Pro1989=)
c.6036C>G (p.Pro2012=)
c.5664C>G (p.Pro1888=)
c.5820C>G (p.Pro1940=)
c.6027C>G (p.Pro2009=)
c.5328C>G (p.Pro1776=)
c.6075C>G (p.Pro2025=)
 dbSNP gnomAD v4
16g.3728966G>TCA493393872CREBBPc.6081C>A (p.Pro2027=)
c.5967C>A (p.Pro1989=)
c.6036C>A (p.Pro2012=)
c.5664C>A (p.Pro1888=)
c.5820C>A (p.Pro1940=)
c.6027C>A (p.Pro2009=)
c.5328C>A (p.Pro1776=)
c.6075C>A (p.Pro2025=)
 dbSNP gnomAD v4
16g.3728967G>ACA394554317CREBBPc.6080C>T (p.Pro2027Leu)
c.5966C>T (p.Pro1989Leu)
c.6035C>T (p.Pro2012Leu)
c.5663C>T (p.Pro1888Leu)
c.5819C>T (p.Pro1940Leu)
c.6026C>T (p.Pro2009Leu)
c.5327C>T (p.Pro1776Leu)
c.6074C>T (p.Pro2025Leu)
 dbSNP gnomAD v4 COSMIC
16g.3728967G>CCA394554314CREBBPc.6080C>G (p.Pro2027Arg)
c.5966C>G (p.Pro1989Arg)
c.6035C>G (p.Pro2012Arg)
c.5663C>G (p.Pro1888Arg)
c.5819C>G (p.Pro1940Arg)
c.6026C>G (p.Pro2009Arg)
c.5327C>G (p.Pro1776Arg)
c.6074C>G (p.Pro2025Arg)
16g.3728967G>TCA394554316CREBBPc.6080C>A (p.Pro2027His)
c.5966C>A (p.Pro1989His)
c.6035C>A (p.Pro2012His)
c.5663C>A (p.Pro1888His)
c.5819C>A (p.Pro1940His)
c.6026C>A (p.Pro2009His)
c.5327C>A (p.Pro1776His)
c.6074C>A (p.Pro2025His)
 dbSNP gnomAD v4
16g.3728968G>ACA394554320CREBBPc.6079C>T (p.Pro2027Ser)
c.5965C>T (p.Pro1989Ser)
c.6034C>T (p.Pro2012Ser)
c.5662C>T (p.Pro1888Ser)
c.5818C>T (p.Pro1940Ser)
c.6025C>T (p.Pro2009Ser)
c.5326C>T (p.Pro1776Ser)
c.6073C>T (p.Pro2025Ser)
 dbSNP gnomAD v4
16g.3728968G>CCA394554321CREBBPc.6079C>G (p.Pro2027Ala)
c.5965C>G (p.Pro1989Ala)
c.6034C>G (p.Pro2012Ala)
c.5662C>G (p.Pro1888Ala)
c.5818C>G (p.Pro1940Ala)
c.6025C>G (p.Pro2009Ala)
c.5326C>G (p.Pro1776Ala)
c.6073C>G (p.Pro2025Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728968G=CA2202916139CREBBPc.6079C= (p.Pro2027=)
c.5965C= (p.Pro1989=)
c.6034C= (p.Pro2012=)
c.5662C= (p.Pro1888=)
c.5818C= (p.Pro1940=)
c.6025C= (p.Pro2009=)
c.5326C= (p.Pro1776=)
c.6073C= (p.Pro2025=)
16g.3728968G>TCA394554323CREBBPc.6079C>A (p.Pro2027Thr)
c.5965C>A (p.Pro1989Thr)
c.6034C>A (p.Pro2012Thr)
c.5662C>A (p.Pro1888Thr)
c.5818C>A (p.Pro1940Thr)
c.6025C>A (p.Pro2009Thr)
c.5326C>A (p.Pro1776Thr)
c.6073C>A (p.Pro2025Thr)
 dbSNP gnomAD v4
16g.3728969A>CCA493393876CREBBPc.6078T>G (p.Leu2026=)
c.5964T>G (p.Leu1988=)
c.6033T>G (p.Leu2011=)
c.5661T>G (p.Leu1887=)
c.5817T>G (p.Leu1939=)
c.6024T>G (p.Leu2008=)
c.5325T>G (p.Leu1775=)
c.6072T>G (p.Leu2024=)
 dbSNP
16g.3728969A>GCA493393879CREBBPc.6078T>C (p.Leu2026=)
c.5964T>C (p.Leu1988=)
c.6033T>C (p.Leu2011=)
c.5661T>C (p.Leu1887=)
c.5817T>C (p.Leu1939=)
c.6024T>C (p.Leu2008=)
c.5325T>C (p.Leu1775=)
c.6072T>C (p.Leu2024=)
 dbSNP
16g.3728969A>TCA493393880CREBBPc.6078T>A (p.Leu2026=)
c.5964T>A (p.Leu1988=)
c.6033T>A (p.Leu2011=)
c.5661T>A (p.Leu1887=)
c.5817T>A (p.Leu1939=)
c.6024T>A (p.Leu2008=)
c.5325T>A (p.Leu1775=)
c.6072T>A (p.Leu2024=)
 dbSNP
16g.3728970A=CA2202916140CREBBPc.6077T= (p.Leu2026=)
c.5963T= (p.Leu1988=)
c.6032T= (p.Leu2011=)
c.5660T= (p.Leu1887=)
c.5816T= (p.Leu1939=)
c.6023T= (p.Leu2008=)
c.5324T= (p.Leu1775=)
c.6071T= (p.Leu2024=)
16g.3728970A>CCA394554327CREBBPc.6077T>G (p.Leu2026Arg)
c.5963T>G (p.Leu1988Arg)
c.6032T>G (p.Leu2011Arg)
c.5660T>G (p.Leu1887Arg)
c.5816T>G (p.Leu1939Arg)
c.6023T>G (p.Leu2008Arg)
c.5324T>G (p.Leu1775Arg)
c.6071T>G (p.Leu2024Arg)
16g.3728970A>GCA394554328CREBBPc.6077T>C (p.Leu2026Pro)
c.5963T>C (p.Leu1988Pro)
c.6032T>C (p.Leu2011Pro)
c.5660T>C (p.Leu1887Pro)
c.5816T>C (p.Leu1939Pro)
c.6023T>C (p.Leu2008Pro)
c.5324T>C (p.Leu1775Pro)
c.6071T>C (p.Leu2024Pro)
 gnomAD v4
16g.3728970A>TCA7869184CREBBPc.6077T>A (p.Leu2026His)
c.5963T>A (p.Leu1988His)
c.6032T>A (p.Leu2011His)
c.5660T>A (p.Leu1887His)
c.5816T>A (p.Leu1939His)
c.6023T>A (p.Leu2008His)
c.5324T>A (p.Leu1775His)
c.6071T>A (p.Leu2024His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728971G>ACA394554331CREBBPc.6076C>T (p.Leu2026Phe)
c.5962C>T (p.Leu1988Phe)
c.6031C>T (p.Leu2011Phe)
c.5659C>T (p.Leu1887Phe)
c.5815C>T (p.Leu1939Phe)
c.6022C>T (p.Leu2008Phe)
c.5323C>T (p.Leu1775Phe)
c.6070C>T (p.Leu2024Phe)
 dbSNP gnomAD v3 gnomAD v4
16g.3728971G>CCA394554333CREBBPc.6076C>G (p.Leu2026Val)
c.5962C>G (p.Leu1988Val)
c.6031C>G (p.Leu2011Val)
c.5659C>G (p.Leu1887Val)
c.5815C>G (p.Leu1939Val)
c.6022C>G (p.Leu2008Val)
c.5323C>G (p.Leu1775Val)
c.6070C>G (p.Leu2024Val)
16g.3728971G>TCA394554335CREBBPc.6076C>A (p.Leu2026Ile)
c.5962C>A (p.Leu1988Ile)
c.6031C>A (p.Leu2011Ile)
c.5659C>A (p.Leu1887Ile)
c.5815C>A (p.Leu1939Ile)
c.6022C>A (p.Leu2008Ile)
c.5323C>A (p.Leu1775Ile)
c.6070C>A (p.Leu2024Ile)
 dbSNP gnomAD v4
16g.3728974delCA2631403155CREBBPc.6076del (p.Leu2026PhefsTer14)
c.5962del (p.Leu1988PhefsTer14)
c.6031del (p.Leu2011PhefsTer14)
c.5659del (p.Leu1887PhefsTer14)
c.5815del (p.Leu1939PhefsTer14)
c.6022del (p.Leu2008PhefsTer14)
c.5323del (p.Leu1775PhefsTer14)
c.6070del (p.Leu2024PhefsTer14)
 gnomAD v4
16g.3728972G>ACA7869185CREBBPc.6075C>T (p.Pro2025=)
c.5961C>T (p.Pro1987=)
c.6030C>T (p.Pro2010=)
c.5658C>T (p.Pro1886=)
c.5814C>T (p.Pro1938=)
c.6021C>T (p.Pro2007=)
c.5322C>T (p.Pro1774=)
c.6069C>T (p.Pro2023=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728972G>CCA493393886CREBBPc.6075C>G (p.Pro2025=)
c.5961C>G (p.Pro1987=)
c.6030C>G (p.Pro2010=)
c.5658C>G (p.Pro1886=)
c.5814C>G (p.Pro1938=)
c.6021C>G (p.Pro2007=)
c.5322C>G (p.Pro1774=)
c.6069C>G (p.Pro2023=)
 dbSNP
16g.3728972G=CA2202916141CREBBPc.6075C= (p.Pro2025=)
c.5961C= (p.Pro1987=)
c.6030C= (p.Pro2010=)
c.5658C= (p.Pro1886=)
c.5814C= (p.Pro1938=)
c.6021C= (p.Pro2007=)
c.5322C= (p.Pro1774=)
c.6069C= (p.Pro2023=)
16g.3728972G>TCA493393885CREBBPc.6075C>A (p.Pro2025=)
c.5961C>A (p.Pro1987=)
c.6030C>A (p.Pro2010=)
c.5658C>A (p.Pro1886=)
c.5814C>A (p.Pro1938=)
c.6021C>A (p.Pro2007=)
c.5322C>A (p.Pro1774=)
c.6069C>A (p.Pro2023=)
 dbSNP gnomAD v4
16g.3728973G>ACA276971792CREBBPc.6074C>T (p.Pro2025Leu)
c.5960C>T (p.Pro1987Leu)
c.6029C>T (p.Pro2010Leu)
c.5657C>T (p.Pro1886Leu)
c.5813C>T (p.Pro1938Leu)
c.6020C>T (p.Pro2007Leu)
c.5321C>T (p.Pro1774Leu)
c.6068C>T (p.Pro2023Leu)
 dbSNP gnomAD v4
16g.3728973G>CCA394554340CREBBPc.6074C>G (p.Pro2025Arg)
c.5960C>G (p.Pro1987Arg)
c.6029C>G (p.Pro2010Arg)
c.5657C>G (p.Pro1886Arg)
c.5813C>G (p.Pro1938Arg)
c.6020C>G (p.Pro2007Arg)
c.5321C>G (p.Pro1774Arg)
c.6068C>G (p.Pro2023Arg)
 dbSNP
16g.3728973G=CA2202916142CREBBPc.6074C= (p.Pro2025=)
c.5960C= (p.Pro1987=)
c.6029C= (p.Pro2010=)
c.5657C= (p.Pro1886=)
c.5813C= (p.Pro1938=)
c.6020C= (p.Pro2007=)
c.5321C= (p.Pro1774=)
c.6068C= (p.Pro2023=)
16g.3728973G>TCA394554342CREBBPc.6074C>A (p.Pro2025His)
c.5960C>A (p.Pro1987His)
c.6029C>A (p.Pro2010His)
c.5657C>A (p.Pro1886His)
c.5813C>A (p.Pro1938His)
c.6020C>A (p.Pro2007His)
c.5321C>A (p.Pro1774His)
c.6068C>A (p.Pro2023His)
 dbSNP gnomAD v2 gnomAD v4
16g.3728974G>ACA394554345CREBBPc.6073C>T (p.Pro2025Ser)
c.5959C>T (p.Pro1987Ser)
c.6028C>T (p.Pro2010Ser)
c.5656C>T (p.Pro1886Ser)
c.5812C>T (p.Pro1938Ser)
c.6019C>T (p.Pro2007Ser)
c.5320C>T (p.Pro1774Ser)
c.6067C>T (p.Pro2023Ser)
 ClinVar dbSNP gnomAD v4
16g.3728974G>CCA394554347CREBBPc.6073C>G (p.Pro2025Ala)
c.5959C>G (p.Pro1987Ala)
c.6028C>G (p.Pro2010Ala)
c.5656C>G (p.Pro1886Ala)
c.5812C>G (p.Pro1938Ala)
c.6019C>G (p.Pro2007Ala)
c.5320C>G (p.Pro1774Ala)
c.6067C>G (p.Pro2023Ala)
 dbSNP
16g.3728974G>TCA394554344CREBBPc.6073C>A (p.Pro2025Thr)
c.5959C>A (p.Pro1987Thr)
c.6028C>A (p.Pro2010Thr)
c.5656C>A (p.Pro1886Thr)
c.5812C>A (p.Pro1938Thr)
c.6019C>A (p.Pro2007Thr)
c.5320C>A (p.Pro1774Thr)
c.6067C>A (p.Pro2023Thr)
 gnomAD v4
16g.3728975C>ACA493393892CREBBPc.6072G>T (p.Ala2024=)
c.5958G>T (p.Ala1986=)
c.6027G>T (p.Ala2009=)
c.5655G>T (p.Ala1885=)
c.5811G>T (p.Ala1937=)
c.6018G>T (p.Ala2006=)
c.5319G>T (p.Ala1773=)
c.6066G>T (p.Ala2022=)
 dbSNP gnomAD v4
16g.3728975C=CA2202916143CREBBPc.6072G= (p.Ala2024=)
c.5958G= (p.Ala1986=)
c.6027G= (p.Ala2009=)
c.5655G= (p.Ala1885=)
c.5811G= (p.Ala1937=)
c.6018G= (p.Ala2006=)
c.5319G= (p.Ala1773=)
c.6066G= (p.Ala2022=)
16g.3728975C>GCA493393895CREBBPc.6072G>C (p.Ala2024=)
c.5958G>C (p.Ala1986=)
c.6027G>C (p.Ala2009=)
c.5655G>C (p.Ala1885=)
c.5811G>C (p.Ala1937=)
c.6018G>C (p.Ala2006=)
c.5319G>C (p.Ala1773=)
c.6066G>C (p.Ala2022=)
 dbSNP
16g.3728975C>TCA7869186CREBBPc.6072G>A (p.Ala2024=)
c.5958G>A (p.Ala1986=)
c.6027G>A (p.Ala2009=)
c.5655G>A (p.Ala1885=)
c.5811G>A (p.Ala1937=)
c.6018G>A (p.Ala2006=)
c.5319G>A (p.Ala1773=)
c.6066G>A (p.Ala2022=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728976G>ACA7869187CREBBPc.6071C>T (p.Ala2024Val)
c.5957C>T (p.Ala1986Val)
c.6026C>T (p.Ala2009Val)
c.5654C>T (p.Ala1885Val)
c.5810C>T (p.Ala1937Val)
c.6017C>T (p.Ala2006Val)
c.5318C>T (p.Ala1773Val)
c.6065C>T (p.Ala2022Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728976G>CCA394554352CREBBPc.6071C>G (p.Ala2024Gly)
c.5957C>G (p.Ala1986Gly)
c.6026C>G (p.Ala2009Gly)
c.5654C>G (p.Ala1885Gly)
c.5810C>G (p.Ala1937Gly)
c.6017C>G (p.Ala2006Gly)
c.5318C>G (p.Ala1773Gly)
c.6065C>G (p.Ala2022Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728976G=CA2202916144CREBBPc.6071C= (p.Ala2024=)
c.5957C= (p.Ala1986=)
c.6026C= (p.Ala2009=)
c.5654C= (p.Ala1885=)
c.5810C= (p.Ala1937=)
c.6017C= (p.Ala2006=)
c.5318C= (p.Ala1773=)
c.6065C= (p.Ala2022=)
16g.3728976G>TCA394554354CREBBPc.6071C>A (p.Ala2024Glu)
c.5957C>A (p.Ala1986Glu)
c.6026C>A (p.Ala2009Glu)
c.5654C>A (p.Ala1885Glu)
c.5810C>A (p.Ala1937Glu)
c.6017C>A (p.Ala2006Glu)
c.5318C>A (p.Ala1773Glu)
c.6065C>A (p.Ala2022Glu)
 dbSNP 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.3728977C>ACA394554356CREBBPc.6070G>T (p.Ala2024Ser)
c.5956G>T (p.Ala1986Ser)
c.6025G>T (p.Ala2009Ser)
c.5653G>T (p.Ala1885Ser)
c.5809G>T (p.Ala1937Ser)
c.6016G>T (p.Ala2006Ser)
c.5317G>T (p.Ala1773Ser)
c.6064G>T (p.Ala2022Ser)
 dbSNP
16g.3728977C>GCA394554358CREBBPc.6070G>C (p.Ala2024Pro)
c.5956G>C (p.Ala1986Pro)
c.6025G>C (p.Ala2009Pro)
c.5653G>C (p.Ala1885Pro)
c.5809G>C (p.Ala1937Pro)
c.6016G>C (p.Ala2006Pro)
c.5317G>C (p.Ala1773Pro)
c.6064G>C (p.Ala2022Pro)
 dbSNP
16g.3728977C>TCA394554360CREBBPc.6070G>A (p.Ala2024Thr)
c.5956G>A (p.Ala1986Thr)
c.6025G>A (p.Ala2009Thr)
c.5653G>A (p.Ala1885Thr)
c.5809G>A (p.Ala1937Thr)
c.6016G>A (p.Ala2006Thr)
c.5317G>A (p.Ala1773Thr)
c.6064G>A (p.Ala2022Thr)
 dbSNP
16g.3728978C>ACA394554362CREBBPc.6069G>T (p.Gln2023His)
c.5955G>T (p.Gln1985His)
c.6024G>T (p.Gln2008His)
c.5652G>T (p.Gln1884His)
c.5808G>T (p.Gln1936His)
c.6015G>T (p.Gln2005His)
c.5316G>T (p.Gln1772His)
c.6063G>T (p.Gln2021His)
 dbSNP
16g.3728978C=CA2202916145CREBBPc.6069G= (p.Gln2023=)
c.5955G= (p.Gln1985=)
c.6024G= (p.Gln2008=)
c.5652G= (p.Gln1884=)
c.5808G= (p.Gln1936=)
c.6015G= (p.Gln2005=)
c.5316G= (p.Gln1772=)
c.6063G= (p.Gln2021=)
16g.3728978C>GCA394554364CREBBPc.6069G>C (p.Gln2023His)
c.5955G>C (p.Gln1985His)
c.6024G>C (p.Gln2008His)
c.5652G>C (p.Gln1884His)
c.5808G>C (p.Gln1936His)
c.6015G>C (p.Gln2005His)
c.5316G>C (p.Gln1772His)
c.6063G>C (p.Gln2021His)
 dbSNP
16g.3728978C>TCA493393902CREBBPc.6069G>A (p.Gln2023=)
c.5955G>A (p.Gln1985=)
c.6024G>A (p.Gln2008=)
c.5652G>A (p.Gln1884=)
c.5808G>A (p.Gln1936=)
c.6015G>A (p.Gln2005=)
c.5316G>A (p.Gln1772=)
c.6063G>A (p.Gln2021=)
 dbSNP gnomAD v2 gnomAD v4
16g.3728979T>ACA394554366CREBBPc.6068A>T (p.Gln2023Leu)
c.5954A>T (p.Gln1985Leu)
c.6023A>T (p.Gln2008Leu)
c.5651A>T (p.Gln1884Leu)
c.5807A>T (p.Gln1936Leu)
c.6014A>T (p.Gln2005Leu)
c.5315A>T (p.Gln1772Leu)
c.6062A>T (p.Gln2021Leu)
16g.3728979T>CCA394554367CREBBPc.6068A>G (p.Gln2023Arg)
c.5954A>G (p.Gln1985Arg)
c.6023A>G (p.Gln2008Arg)
c.5651A>G (p.Gln1884Arg)
c.5807A>G (p.Gln1936Arg)
c.6014A>G (p.Gln2005Arg)
c.5315A>G (p.Gln1772Arg)
c.6062A>G (p.Gln2021Arg)
 dbSNP
16g.3728979T>GCA394554369CREBBPc.6068A>C (p.Gln2023Pro)
c.5954A>C (p.Gln1985Pro)
c.6023A>C (p.Gln2008Pro)
c.5651A>C (p.Gln1884Pro)
c.5807A>C (p.Gln1936Pro)
c.6014A>C (p.Gln2005Pro)
c.5315A>C (p.Gln1772Pro)
c.6062A>C (p.Gln2021Pro)
16g.3728980G>ACA394554372CREBBPc.6067C>T (p.Gln2023Ter)
c.5953C>T (p.Gln1985Ter)
c.6022C>T (p.Gln2008Ter)
c.5650C>T (p.Gln1884Ter)
c.5806C>T (p.Gln1936Ter)
c.6013C>T (p.Gln2005Ter)
c.5314C>T (p.Gln1772Ter)
c.6061C>T (p.Gln2021Ter)
 dbSNP gnomAD v4
16g.3728980G>CCA394554373CREBBPc.6067C>G (p.Gln2023Glu)
c.5953C>G (p.Gln1985Glu)
c.6022C>G (p.Gln2008Glu)
c.5650C>G (p.Gln1884Glu)
c.5806C>G (p.Gln1936Glu)
c.6013C>G (p.Gln2005Glu)
c.5314C>G (p.Gln1772Glu)
c.6061C>G (p.Gln2021Glu)
 dbSNP gnomAD v4
16g.3728980G>TCA394554374CREBBPc.6067C>A (p.Gln2023Lys)
c.5953C>A (p.Gln1985Lys)
c.6022C>A (p.Gln2008Lys)
c.5650C>A (p.Gln1884Lys)
c.5806C>A (p.Gln1936Lys)
c.6013C>A (p.Gln2005Lys)
c.5314C>A (p.Gln1772Lys)
c.6061C>A (p.Gln2021Lys)
 dbSNP gnomAD v4
16g.3728981C>ACA394554376CREBBPc.6066G>T (p.Gln2022His)
c.5952G>T (p.Gln1984His)
c.6021G>T (p.Gln2007His)
c.5649G>T (p.Gln1883His)
c.5805G>T (p.Gln1935His)
c.6012G>T (p.Gln2004His)
c.5313G>T (p.Gln1771His)
c.6060G>T (p.Gln2020His)
 gnomAD v4
16g.3728981C>GCA394554378CREBBPc.6066G>C (p.Gln2022His)
c.5952G>C (p.Gln1984His)
c.6021G>C (p.Gln2007His)
c.5649G>C (p.Gln1883His)
c.5805G>C (p.Gln1935His)
c.6012G>C (p.Gln2004His)
c.5313G>C (p.Gln1771His)
c.6060G>C (p.Gln2020His)
16g.3728981C>TCA493393910CREBBPc.6066G>A (p.Gln2022=)
c.5952G>A (p.Gln1984=)
c.6021G>A (p.Gln2007=)
c.5649G>A (p.Gln1883=)
c.5805G>A (p.Gln1935=)
c.6012G>A (p.Gln2004=)
c.5313G>A (p.Gln1771=)
c.6060G>A (p.Gln2020=)
 gnomAD v4 COSMIC
16g.3728982T>ACA394554379CREBBPc.6065A>T (p.Gln2022Leu)
c.5951A>T (p.Gln1984Leu)
c.6020A>T (p.Gln2007Leu)
c.5648A>T (p.Gln1883Leu)
c.5804A>T (p.Gln1935Leu)
c.6011A>T (p.Gln2004Leu)
c.5312A>T (p.Gln1771Leu)
c.6059A>T (p.Gln2020Leu)
 dbSNP
16g.3728982T>CCA394554380CREBBPc.6065A>G (p.Gln2022Arg)
c.5951A>G (p.Gln1984Arg)
c.6020A>G (p.Gln2007Arg)
c.5648A>G (p.Gln1883Arg)
c.5804A>G (p.Gln1935Arg)
c.6011A>G (p.Gln2004Arg)
c.5312A>G (p.Gln1771Arg)
c.6059A>G (p.Gln2020Arg)
 dbSNP
16g.3728982T>GCA394554382CREBBPc.6065A>C (p.Gln2022Pro)
c.5951A>C (p.Gln1984Pro)
c.6020A>C (p.Gln2007Pro)
c.5648A>C (p.Gln1883Pro)
c.5804A>C (p.Gln1935Pro)
c.6011A>C (p.Gln2004Pro)
c.5312A>C (p.Gln1771Pro)
c.6059A>C (p.Gln2020Pro)
16g.3728983G>ACA394554384CREBBPc.6064C>T (p.Gln2022Ter)
c.5950C>T (p.Gln1984Ter)
c.6019C>T (p.Gln2007Ter)
c.5647C>T (p.Gln1883Ter)
c.5803C>T (p.Gln1935Ter)
c.6010C>T (p.Gln2004Ter)
c.5311C>T (p.Gln1771Ter)
c.6058C>T (p.Gln2020Ter)
 gnomAD v4
16g.3728983G>CCA394554386CREBBPc.6064C>G (p.Gln2022Glu)
c.5950C>G (p.Gln1984Glu)
c.6019C>G (p.Gln2007Glu)
c.5647C>G (p.Gln1883Glu)
c.5803C>G (p.Gln1935Glu)
c.6010C>G (p.Gln2004Glu)
c.5311C>G (p.Gln1771Glu)
c.6058C>G (p.Gln2020Glu)
 gnomAD v4
16g.3728983G>TCA394554388CREBBPc.6064C>A (p.Gln2022Lys)
c.5950C>A (p.Gln1984Lys)
c.6019C>A (p.Gln2007Lys)
c.5647C>A (p.Gln1883Lys)
c.5803C>A (p.Gln1935Lys)
c.6010C>A (p.Gln2004Lys)
c.5311C>A (p.Gln1771Lys)
c.6058C>A (p.Gln2020Lys)
 gnomAD v4
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=)

Number of alleles fetched