Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCA2202928889CREBBPc.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2044=)
c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2006=)
c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2029=)
c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1905=)
c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1957=)
c.6076_6118delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2026=)
c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1793=)
c.6124_6166delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2042=)
16g.3728881_3728922delCA271438CREBBPc.6130_6171del (p.Ala2044_Gln2057del)
c.6016_6057del (p.Ala2006_Gln2019del)
c.6085_6126del (p.Ala2029_Gln2042del)
c.5713_5754del (p.Ala1905_Gln1918del)
c.5869_5910del (p.Ala1957_Gln1970del)
c.6076_6117del (p.Ala2026_Gln2039del)
c.5377_5418del (p.Ala1793_Gln1806del)
c.6124_6165del (p.Ala2042_Gln2055del)
 ClinVar dbSNP
16g.3728879_3728888delCA2731850792CREBBPc.6159_6168del (p.Met2053IlefsTer19)
c.6045_6054del (p.Met2015IlefsTer19)
c.6114_6123del (p.Met2038IlefsTer19)
c.5742_5751del (p.Met1914IlefsTer19)
c.5898_5907del (p.Met1966IlefsTer19)
c.6105_6114del (p.Met2035IlefsTer19)
c.5406_5415del (p.Met1802IlefsTer19)
c.6153_6162del (p.Met2051IlefsTer19)
 dbSNP
16g.3728882G>ACA7869166CREBBPc.6165C>T (p.Ser2055=)
c.6051C>T (p.Ser2017=)
c.6120C>T (p.Ser2040=)
c.5748C>T (p.Ser1916=)
c.5904C>T (p.Ser1968=)
c.6111C>T (p.Ser2037=)
c.5412C>T (p.Ser1804=)
c.6159C>T (p.Ser2053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728882G>CCA394554000CREBBPc.6165C>G (p.Ser2055Arg)
c.6051C>G (p.Ser2017Arg)
c.6120C>G (p.Ser2040Arg)
c.5748C>G (p.Ser1916Arg)
c.5904C>G (p.Ser1968Arg)
c.6111C>G (p.Ser2037Arg)
c.5412C>G (p.Ser1804Arg)
c.6159C>G (p.Ser2053Arg)
16g.3728882G=CA2202916098CREBBPc.6165C= (p.Ser2055=)
c.6051C= (p.Ser2017=)
c.6120C= (p.Ser2040=)
c.5748C= (p.Ser1916=)
c.5904C= (p.Ser1968=)
c.6111C= (p.Ser2037=)
c.5412C= (p.Ser1804=)
c.6159C= (p.Ser2053=)
16g.3728882G>TCA394554002CREBBPc.6165C>A (p.Ser2055Arg)
c.6051C>A (p.Ser2017Arg)
c.6120C>A (p.Ser2040Arg)
c.5748C>A (p.Ser1916Arg)
c.5904C>A (p.Ser1968Arg)
c.6111C>A (p.Ser2037Arg)
c.5412C>A (p.Ser1804Arg)
c.6159C>A (p.Ser2053Arg)
 gnomAD v4
16g.3728883C>ACA394554004CREBBPc.6164G>T (p.Ser2055Ile)
c.6050G>T (p.Ser2017Ile)
c.6119G>T (p.Ser2040Ile)
c.5747G>T (p.Ser1916Ile)
c.5903G>T (p.Ser1968Ile)
c.6110G>T (p.Ser2037Ile)
c.5411G>T (p.Ser1804Ile)
c.6158G>T (p.Ser2053Ile)
 dbSNP gnomAD v4
16g.3728883C>GCA394554006CREBBPc.6164G>C (p.Ser2055Thr)
c.6050G>C (p.Ser2017Thr)
c.6119G>C (p.Ser2040Thr)
c.5747G>C (p.Ser1916Thr)
c.5903G>C (p.Ser1968Thr)
c.6110G>C (p.Ser2037Thr)
c.5411G>C (p.Ser1804Thr)
c.6158G>C (p.Ser2053Thr)
 ClinVar dbSNP
16g.3728883C>TCA394554008CREBBPc.6164G>A (p.Ser2055Asn)
c.6050G>A (p.Ser2017Asn)
c.6119G>A (p.Ser2040Asn)
c.5747G>A (p.Ser1916Asn)
c.5903G>A (p.Ser1968Asn)
c.6110G>A (p.Ser2037Asn)
c.5411G>A (p.Ser1804Asn)
c.6158G>A (p.Ser2053Asn)
 dbSNP gnomAD v4
16g.3728889_3728917delCA2573334478CREBBPc.6136_6164del (p.Ala2046ArgfsTer?)
c.6022_6050del (p.Ala2008ArgfsTer?)
c.6091_6119del (p.Ala2031ArgfsTer?)
c.5719_5747del (p.Ala1907ArgfsTer?)
c.5875_5903del (p.Ala1959ArgfsTer?)
c.6082_6110del (p.Ala2028ArgfsTer?)
c.5383_5411del (p.Ala1795ArgfsTer?)
c.6130_6158del (p.Ala2044ArgfsTer?)
 dbSNP
16g.3728884T>ACA394554010CREBBPc.6163A>T (p.Ser2055Cys)
c.6049A>T (p.Ser2017Cys)
c.6118A>T (p.Ser2040Cys)
c.5746A>T (p.Ser1916Cys)
c.5902A>T (p.Ser1968Cys)
c.6109A>T (p.Ser2037Cys)
c.5410A>T (p.Ser1804Cys)
c.6157A>T (p.Ser2053Cys)
16g.3728884T>CCA394554012CREBBPc.6163A>G (p.Ser2055Gly)
c.6049A>G (p.Ser2017Gly)
c.6118A>G (p.Ser2040Gly)
c.5746A>G (p.Ser1916Gly)
c.5902A>G (p.Ser1968Gly)
c.6109A>G (p.Ser2037Gly)
c.5410A>G (p.Ser1804Gly)
c.6157A>G (p.Ser2053Gly)
16g.3728884T>GCA394554014CREBBPc.6163A>C (p.Ser2055Arg)
c.6049A>C (p.Ser2017Arg)
c.6118A>C (p.Ser2040Arg)
c.5746A>C (p.Ser1916Arg)
c.5902A>C (p.Ser1968Arg)
c.6109A>C (p.Ser2037Arg)
c.5410A>C (p.Ser1804Arg)
c.6157A>C (p.Ser2053Arg)
16g.3728885G>ACA493393760CREBBPc.6162C>T (p.Pro2054=)
c.6048C>T (p.Pro2016=)
c.6117C>T (p.Pro2039=)
c.5745C>T (p.Pro1915=)
c.5901C>T (p.Pro1967=)
c.6108C>T (p.Pro2036=)
c.5409C>T (p.Pro1803=)
c.6156C>T (p.Pro2052=)
 dbSNP
16g.3728885G>CCA493393761CREBBPc.6162C>G (p.Pro2054=)
c.6048C>G (p.Pro2016=)
c.6117C>G (p.Pro2039=)
c.5745C>G (p.Pro1915=)
c.5901C>G (p.Pro1967=)
c.6108C>G (p.Pro2036=)
c.5409C>G (p.Pro1803=)
c.6156C>G (p.Pro2052=)
 dbSNP
16g.3728885G>TCA493393763CREBBPc.6162C>A (p.Pro2054=)
c.6048C>A (p.Pro2016=)
c.6117C>A (p.Pro2039=)
c.5745C>A (p.Pro1915=)
c.5901C>A (p.Pro1967=)
c.6108C>A (p.Pro2036=)
c.5409C>A (p.Pro1803=)
c.6156C>A (p.Pro2052=)
 dbSNP gnomAD v4
16g.3728886G>ACA394554016CREBBPc.6161C>T (p.Pro2054Leu)
c.6047C>T (p.Pro2016Leu)
c.6116C>T (p.Pro2039Leu)
c.5744C>T (p.Pro1915Leu)
c.5900C>T (p.Pro1967Leu)
c.6107C>T (p.Pro2036Leu)
c.5408C>T (p.Pro1803Leu)
c.6155C>T (p.Pro2052Leu)
 ClinVar dbSNP
16g.3728886G>CCA394554018CREBBPc.6161C>G (p.Pro2054Arg)
c.6047C>G (p.Pro2016Arg)
c.6116C>G (p.Pro2039Arg)
c.5744C>G (p.Pro1915Arg)
c.5900C>G (p.Pro1967Arg)
c.6107C>G (p.Pro2036Arg)
c.5408C>G (p.Pro1803Arg)
c.6155C>G (p.Pro2052Arg)
 dbSNP gnomAD v4
16g.3728886G>TCA394554020CREBBPc.6161C>A (p.Pro2054His)
c.6047C>A (p.Pro2016His)
c.6116C>A (p.Pro2039His)
c.5744C>A (p.Pro1915His)
c.5900C>A (p.Pro1967His)
c.6107C>A (p.Pro2036His)
c.5408C>A (p.Pro1803His)
c.6155C>A (p.Pro2052His)
16g.3728887G>ACA394554026CREBBPc.6160C>T (p.Pro2054Ser)
c.6046C>T (p.Pro2016Ser)
c.6115C>T (p.Pro2039Ser)
c.5743C>T (p.Pro1915Ser)
c.5899C>T (p.Pro1967Ser)
c.6106C>T (p.Pro2036Ser)
c.5407C>T (p.Pro1803Ser)
c.6154C>T (p.Pro2052Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3728887G>CCA394554022CREBBPc.6160C>G (p.Pro2054Ala)
c.6046C>G (p.Pro2016Ala)
c.6115C>G (p.Pro2039Ala)
c.5743C>G (p.Pro1915Ala)
c.5899C>G (p.Pro1967Ala)
c.6106C>G (p.Pro2036Ala)
c.5407C>G (p.Pro1803Ala)
c.6154C>G (p.Pro2052Ala)
 dbSNP
16g.3728887G=CA2202916099CREBBPc.6160C= (p.Pro2054=)
c.6046C= (p.Pro2016=)
c.6115C= (p.Pro2039=)
c.5743C= (p.Pro1915=)
c.5899C= (p.Pro1967=)
c.6106C= (p.Pro2036=)
c.5407C= (p.Pro1803=)
c.6154C= (p.Pro2052=)
16g.3728887G>TCA394554024CREBBPc.6160C>A (p.Pro2054Thr)
c.6046C>A (p.Pro2016Thr)
c.6115C>A (p.Pro2039Thr)
c.5743C>A (p.Pro1915Thr)
c.5899C>A (p.Pro1967Thr)
c.6106C>A (p.Pro2036Thr)
c.5407C>A (p.Pro1803Thr)
c.6154C>A (p.Pro2052Thr)
16g.3728888C>ACA394554028CREBBPc.6159G>T (p.Met2053Ile)
c.6045G>T (p.Met2015Ile)
c.6114G>T (p.Met2038Ile)
c.5742G>T (p.Met1914Ile)
c.5898G>T (p.Met1966Ile)
c.6105G>T (p.Met2035Ile)
c.5406G>T (p.Met1802Ile)
c.6153G>T (p.Met2051Ile)
 gnomAD v4
16g.3728888C>GCA394554030CREBBPc.6159G>C (p.Met2053Ile)
c.6045G>C (p.Met2015Ile)
c.6114G>C (p.Met2038Ile)
c.5742G>C (p.Met1914Ile)
c.5898G>C (p.Met1966Ile)
c.6105G>C (p.Met2035Ile)
c.5406G>C (p.Met1802Ile)
c.6153G>C (p.Met2051Ile)
16g.3728888C>TCA394554032CREBBPc.6159G>A (p.Met2053Ile)
c.6045G>A (p.Met2015Ile)
c.6114G>A (p.Met2038Ile)
c.5742G>A (p.Met1914Ile)
c.5898G>A (p.Met1966Ile)
c.6105G>A (p.Met2035Ile)
c.5406G>A (p.Met1802Ile)
c.6153G>A (p.Met2051Ile)
16g.3728889A>CCA394554034CREBBPc.6158T>G (p.Met2053Arg)
c.6044T>G (p.Met2015Arg)
c.6113T>G (p.Met2038Arg)
c.5741T>G (p.Met1914Arg)
c.5897T>G (p.Met1966Arg)
c.6104T>G (p.Met2035Arg)
c.5405T>G (p.Met1802Arg)
c.6152T>G (p.Met2051Arg)
16g.3728889A>GCA394554036CREBBPc.6158T>C (p.Met2053Thr)
c.6044T>C (p.Met2015Thr)
c.6113T>C (p.Met2038Thr)
c.5741T>C (p.Met1914Thr)
c.5897T>C (p.Met1966Thr)
c.6104T>C (p.Met2035Thr)
c.5405T>C (p.Met1802Thr)
c.6152T>C (p.Met2051Thr)
 gnomAD v4
16g.3728889A>TCA394554038CREBBPc.6158T>A (p.Met2053Lys)
c.6044T>A (p.Met2015Lys)
c.6113T>A (p.Met2038Lys)
c.5741T>A (p.Met1914Lys)
c.5897T>A (p.Met1966Lys)
c.6104T>A (p.Met2035Lys)
c.5405T>A (p.Met1802Lys)
c.6152T>A (p.Met2051Lys)
 dbSNP
16g.3728890T>ACA394554040CREBBPc.6157A>T (p.Met2053Leu)
c.6043A>T (p.Met2015Leu)
c.6112A>T (p.Met2038Leu)
c.5740A>T (p.Met1914Leu)
c.5896A>T (p.Met1966Leu)
c.6103A>T (p.Met2035Leu)
c.5404A>T (p.Met1802Leu)
c.6151A>T (p.Met2051Leu)
 dbSNP
16g.3728890T>CCA7869167CREBBPc.6157A>G (p.Met2053Val)
c.6043A>G (p.Met2015Val)
c.6112A>G (p.Met2038Val)
c.5740A>G (p.Met1914Val)
c.5896A>G (p.Met1966Val)
c.6103A>G (p.Met2035Val)
c.5404A>G (p.Met1802Val)
c.6151A>G (p.Met2051Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728890T>GCA394554042CREBBPc.6157A>C (p.Met2053Leu)
c.6043A>C (p.Met2015Leu)
c.6112A>C (p.Met2038Leu)
c.5740A>C (p.Met1914Leu)
c.5896A>C (p.Met1966Leu)
c.6103A>C (p.Met2035Leu)
c.5404A>C (p.Met1802Leu)
c.6151A>C (p.Met2051Leu)
16g.3728890T=CA2202916100CREBBPc.6157A= (p.Met2053=)
c.6043A= (p.Met2015=)
c.6112A= (p.Met2038=)
c.5740A= (p.Met1914=)
c.5896A= (p.Met1966=)
c.6103A= (p.Met2035=)
c.5404A= (p.Met1802=)
c.6151A= (p.Met2051=)
16g.3728891C>ACA493393765CREBBPc.6156G>T (p.Arg2052=)
c.6042G>T (p.Arg2014=)
c.6111G>T (p.Arg2037=)
c.5739G>T (p.Arg1913=)
c.5895G>T (p.Arg1965=)
c.6102G>T (p.Arg2034=)
c.5403G>T (p.Arg1801=)
c.6150G>T (p.Arg2050=)
 gnomAD v4
16g.3728891C>GCA493393766CREBBPc.6156G>C (p.Arg2052=)
c.6042G>C (p.Arg2014=)
c.6111G>C (p.Arg2037=)
c.5739G>C (p.Arg1913=)
c.5895G>C (p.Arg1965=)
c.6102G>C (p.Arg2034=)
c.5403G>C (p.Arg1801=)
c.6150G>C (p.Arg2050=)
 dbSNP gnomAD v4
16g.3728891C>TCA493393767CREBBPc.6156G>A (p.Arg2052=)
c.6042G>A (p.Arg2014=)
c.6111G>A (p.Arg2037=)
c.5739G>A (p.Arg1913=)
c.5895G>A (p.Arg1965=)
c.6102G>A (p.Arg2034=)
c.5403G>A (p.Arg1801=)
c.6150G>A (p.Arg2050=)
 dbSNP
16g.3728892C>ACA7869168CREBBPc.6155G>T (p.Arg2052Leu)
c.6041G>T (p.Arg2014Leu)
c.6110G>T (p.Arg2037Leu)
c.5738G>T (p.Arg1913Leu)
c.5894G>T (p.Arg1965Leu)
c.6101G>T (p.Arg2034Leu)
c.5402G>T (p.Arg1801Leu)
c.6149G>T (p.Arg2050Leu)
 dbSNP ExAC gnomAD v4
16g.3728892C=CA2202916101CREBBPc.6155G= (p.Arg2052=)
c.6041G= (p.Arg2014=)
c.6110G= (p.Arg2037=)
c.5738G= (p.Arg1913=)
c.5894G= (p.Arg1965=)
c.6101G= (p.Arg2034=)
c.5402G= (p.Arg1801=)
c.6149G= (p.Arg2050=)
16g.3728892C>GCA394554046CREBBPc.6155G>C (p.Arg2052Pro)
c.6041G>C (p.Arg2014Pro)
c.6110G>C (p.Arg2037Pro)
c.5738G>C (p.Arg1913Pro)
c.5894G>C (p.Arg1965Pro)
c.6101G>C (p.Arg2034Pro)
c.5402G>C (p.Arg1801Pro)
c.6149G>C (p.Arg2050Pro)
 dbSNP
16g.3728892C>TCA276971747CREBBPc.6155G>A (p.Arg2052Gln)
c.6041G>A (p.Arg2014Gln)
c.6110G>A (p.Arg2037Gln)
c.5738G>A (p.Arg1913Gln)
c.5894G>A (p.Arg1965Gln)
c.6101G>A (p.Arg2034Gln)
c.5402G>A (p.Arg1801Gln)
c.6149G>A (p.Arg2050Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728893G>ACA394554050CREBBPc.6154C>T (p.Arg2052Trp)
c.6040C>T (p.Arg2014Trp)
c.6109C>T (p.Arg2037Trp)
c.5737C>T (p.Arg1913Trp)
c.5893C>T (p.Arg1965Trp)
c.6100C>T (p.Arg2034Trp)
c.5401C>T (p.Arg1801Trp)
c.6148C>T (p.Arg2050Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728893G>CCA394554048CREBBPc.6154C>G (p.Arg2052Gly)
c.6040C>G (p.Arg2014Gly)
c.6109C>G (p.Arg2037Gly)
c.5737C>G (p.Arg1913Gly)
c.5893C>G (p.Arg1965Gly)
c.6100C>G (p.Arg2034Gly)
c.5401C>G (p.Arg1801Gly)
c.6148C>G (p.Arg2050Gly)
 dbSNP gnomAD v4
16g.3728893G=CA2202916102CREBBPc.6154C= (p.Arg2052=)
c.6040C= (p.Arg2014=)
c.6109C= (p.Arg2037=)
c.5737C= (p.Arg1913=)
c.5893C= (p.Arg1965=)
c.6100C= (p.Arg2034=)
c.5401C= (p.Arg1801=)
c.6148C= (p.Arg2050=)
16g.3728893G>TCA493393791CREBBPc.6154C>A (p.Arg2052=)
c.6040C>A (p.Arg2014=)
c.6109C>A (p.Arg2037=)
c.5737C>A (p.Arg1913=)
c.5893C>A (p.Arg1965=)
c.6100C>A (p.Arg2034=)
c.5401C>A (p.Arg1801=)
c.6148C>A (p.Arg2050=)
 dbSNP gnomAD v4
16g.3728894G>ACA493393792CREBBPc.6153C>T (p.Pro2051=)
c.6039C>T (p.Pro2013=)
c.6108C>T (p.Pro2036=)
c.5736C>T (p.Pro1912=)
c.5892C>T (p.Pro1964=)
c.6099C>T (p.Pro2033=)
c.5400C>T (p.Pro1800=)
c.6147C>T (p.Pro2049=)
 dbSNP gnomAD v2
16g.3728894G>CCA493393793CREBBPc.6153C>G (p.Pro2051=)
c.6039C>G (p.Pro2013=)
c.6108C>G (p.Pro2036=)
c.5736C>G (p.Pro1912=)
c.5892C>G (p.Pro1964=)
c.6099C>G (p.Pro2033=)
c.5400C>G (p.Pro1800=)
c.6147C>G (p.Pro2049=)
 dbSNP
16g.3728894G=CA2202916103CREBBPc.6153C= (p.Pro2051=)
c.6039C= (p.Pro2013=)
c.6108C= (p.Pro2036=)
c.5736C= (p.Pro1912=)
c.5892C= (p.Pro1964=)
c.6099C= (p.Pro2033=)
c.5400C= (p.Pro1800=)
c.6147C= (p.Pro2049=)
16g.3728894G>TCA276971750CREBBPc.6153C>A (p.Pro2051=)
c.6039C>A (p.Pro2013=)
c.6108C>A (p.Pro2036=)
c.5736C>A (p.Pro1912=)
c.5892C>A (p.Pro1964=)
c.6099C>A (p.Pro2033=)
c.5400C>A (p.Pro1800=)
c.6147C>A (p.Pro2049=)
 dbSNP
16g.3728895G>ACA394554053CREBBPc.6152C>T (p.Pro2051Leu)
c.6038C>T (p.Pro2013Leu)
c.6107C>T (p.Pro2036Leu)
c.5735C>T (p.Pro1912Leu)
c.5891C>T (p.Pro1964Leu)
c.6098C>T (p.Pro2033Leu)
c.5399C>T (p.Pro1800Leu)
c.6146C>T (p.Pro2049Leu)
 gnomAD v4
16g.3728895G>CCA394554057CREBBPc.6152C>G (p.Pro2051Arg)
c.6038C>G (p.Pro2013Arg)
c.6107C>G (p.Pro2036Arg)
c.5735C>G (p.Pro1912Arg)
c.5891C>G (p.Pro1964Arg)
c.6098C>G (p.Pro2033Arg)
c.5399C>G (p.Pro1800Arg)
c.6146C>G (p.Pro2049Arg)
 gnomAD v4
16g.3728895G>TCA394554054CREBBPc.6152C>A (p.Pro2051His)
c.6038C>A (p.Pro2013His)
c.6107C>A (p.Pro2036His)
c.5735C>A (p.Pro1912His)
c.5891C>A (p.Pro1964His)
c.6098C>A (p.Pro2033His)
c.5399C>A (p.Pro1800His)
c.6146C>A (p.Pro2049His)
 gnomAD v4 COSMIC
16g.3728896G>ACA394554060CREBBPc.6151C>T (p.Pro2051Ser)
c.6037C>T (p.Pro2013Ser)
c.6106C>T (p.Pro2036Ser)
c.5734C>T (p.Pro1912Ser)
c.5890C>T (p.Pro1964Ser)
c.6097C>T (p.Pro2033Ser)
c.5398C>T (p.Pro1800Ser)
c.6145C>T (p.Pro2049Ser)
16g.3728896G>CCA394554061CREBBPc.6151C>G (p.Pro2051Ala)
c.6037C>G (p.Pro2013Ala)
c.6106C>G (p.Pro2036Ala)
c.5734C>G (p.Pro1912Ala)
c.5890C>G (p.Pro1964Ala)
c.6097C>G (p.Pro2033Ala)
c.5398C>G (p.Pro1800Ala)
c.6145C>G (p.Pro2049Ala)
 gnomAD v4
16g.3728896G>TCA394554063CREBBPc.6151C>A (p.Pro2051Thr)
c.6037C>A (p.Pro2013Thr)
c.6106C>A (p.Pro2036Thr)
c.5734C>A (p.Pro1912Thr)
c.5890C>A (p.Pro1964Thr)
c.6097C>A (p.Pro2033Thr)
c.5398C>A (p.Pro1800Thr)
c.6145C>A (p.Pro2049Thr)
 gnomAD v4
16g.3728897C>ACA493393798CREBBPc.6150G>T (p.Gly2050=)
c.6036G>T (p.Gly2012=)
c.6105G>T (p.Gly2035=)
c.5733G>T (p.Gly1911=)
c.5889G>T (p.Gly1963=)
c.6096G>T (p.Gly2032=)
c.5397G>T (p.Gly1799=)
c.6144G>T (p.Gly2048=)
16g.3728897C>GCA493393799CREBBPc.6150G>C (p.Gly2050=)
c.6036G>C (p.Gly2012=)
c.6105G>C (p.Gly2035=)
c.5733G>C (p.Gly1911=)
c.5889G>C (p.Gly1963=)
c.6096G>C (p.Gly2032=)
c.5397G>C (p.Gly1799=)
c.6144G>C (p.Gly2048=)
16g.3728897C>TCA493393800CREBBPc.6150G>A (p.Gly2050=)
c.6036G>A (p.Gly2012=)
c.6105G>A (p.Gly2035=)
c.5733G>A (p.Gly1911=)
c.5889G>A (p.Gly1963=)
c.6096G>A (p.Gly2032=)
c.5397G>A (p.Gly1799=)
c.6144G>A (p.Gly2048=)
16g.3728899dupCA645575156CREBBPc.6150dup (p.Pro2051AlafsTer?)
c.6036dup (p.Pro2013AlafsTer?)
c.6105dup (p.Pro2036AlafsTer?)
c.5733dup (p.Pro1912AlafsTer?)
c.5889dup (p.Pro1964AlafsTer?)
c.6096dup (p.Pro2033AlafsTer?)
c.5397dup (p.Pro1800AlafsTer?)
c.6144dup (p.Pro2049AlafsTer?)
 COSMIC
16g.3728898C>ACA394554064CREBBPc.6149G>T (p.Gly2050Val)
c.6035G>T (p.Gly2012Val)
c.6104G>T (p.Gly2035Val)
c.5732G>T (p.Gly1911Val)
c.5888G>T (p.Gly1963Val)
c.6095G>T (p.Gly2032Val)
c.5396G>T (p.Gly1799Val)
c.6143G>T (p.Gly2048Val)
 dbSNP
16g.3728898C=CA2202916104CREBBPc.6149G= (p.Gly2050=)
c.6035G= (p.Gly2012=)
c.6104G= (p.Gly2035=)
c.5732G= (p.Gly1911=)
c.5888G= (p.Gly1963=)
c.6095G= (p.Gly2032=)
c.5396G= (p.Gly1799=)
c.6143G= (p.Gly2048=)
16g.3728898C>GCA394554065CREBBPc.6149G>C (p.Gly2050Ala)
c.6035G>C (p.Gly2012Ala)
c.6104G>C (p.Gly2035Ala)
c.5732G>C (p.Gly1911Ala)
c.5888G>C (p.Gly1963Ala)
c.6095G>C (p.Gly2032Ala)
c.5396G>C (p.Gly1799Ala)
c.6143G>C (p.Gly2048Ala)
 dbSNP
16g.3728898C>TCA394554067CREBBPc.6149G>A (p.Gly2050Glu)
c.6035G>A (p.Gly2012Glu)
c.6104G>A (p.Gly2035Glu)
c.5732G>A (p.Gly1911Glu)
c.5888G>A (p.Gly1963Glu)
c.6095G>A (p.Gly2032Glu)
c.5396G>A (p.Gly1799Glu)
c.6143G>A (p.Gly2048Glu)
 dbSNP gnomAD v2
16g.3728899C>ACA394554069CREBBPc.6148G>T (p.Gly2050Trp)
c.6034G>T (p.Gly2012Trp)
c.6103G>T (p.Gly2035Trp)
c.5731G>T (p.Gly1911Trp)
c.5887G>T (p.Gly1963Trp)
c.6094G>T (p.Gly2032Trp)
c.5395G>T (p.Gly1799Trp)
c.6142G>T (p.Gly2048Trp)
16g.3728899C=CA2202916105CREBBPc.6148G= (p.Gly2050=)
c.6034G= (p.Gly2012=)
c.6103G= (p.Gly2035=)
c.5731G= (p.Gly1911=)
c.5887G= (p.Gly1963=)
c.6094G= (p.Gly2032=)
c.5395G= (p.Gly1799=)
c.6142G= (p.Gly2048=)
16g.3728899C>GCA394554070CREBBPc.6148G>C (p.Gly2050Arg)
c.6034G>C (p.Gly2012Arg)
c.6103G>C (p.Gly2035Arg)
c.5731G>C (p.Gly1911Arg)
c.5887G>C (p.Gly1963Arg)
c.6094G>C (p.Gly2032Arg)
c.5395G>C (p.Gly1799Arg)
c.6142G>C (p.Gly2048Arg)
 dbSNP
16g.3728899C>TCA7869169CREBBPc.6148G>A (p.Gly2050Arg)
c.6034G>A (p.Gly2012Arg)
c.6103G>A (p.Gly2035Arg)
c.5731G>A (p.Gly1911Arg)
c.5887G>A (p.Gly1963Arg)
c.6094G>A (p.Gly2032Arg)
c.5395G>A (p.Gly1799Arg)
c.6142G>A (p.Gly2048Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728900A>CCA493393801CREBBPc.6147T>G (p.Ala2049=)
c.6033T>G (p.Ala2011=)
c.6102T>G (p.Ala2034=)
c.5730T>G (p.Ala1910=)
c.5886T>G (p.Ala1962=)
c.6093T>G (p.Ala2031=)
c.5394T>G (p.Ala1798=)
c.6141T>G (p.Ala2047=)
 dbSNP
16g.3728900A>GCA493393803CREBBPc.6147T>C (p.Ala2049=)
c.6033T>C (p.Ala2011=)
c.6102T>C (p.Ala2034=)
c.5730T>C (p.Ala1910=)
c.5886T>C (p.Ala1962=)
c.6093T>C (p.Ala2031=)
c.5394T>C (p.Ala1798=)
c.6141T>C (p.Ala2047=)
 dbSNP
16g.3728900A>TCA493393802CREBBPc.6147T>A (p.Ala2049=)
c.6033T>A (p.Ala2011=)
c.6102T>A (p.Ala2034=)
c.5730T>A (p.Ala1910=)
c.5886T>A (p.Ala1962=)
c.6093T>A (p.Ala2031=)
c.5394T>A (p.Ala1798=)
c.6141T>A (p.Ala2047=)
 dbSNP
16g.3728901G>ACA7869170CREBBPc.6146C>T (p.Ala2049Val)
c.6032C>T (p.Ala2011Val)
c.6101C>T (p.Ala2034Val)
c.5729C>T (p.Ala1910Val)
c.5885C>T (p.Ala1962Val)
c.6092C>T (p.Ala2031Val)
c.5393C>T (p.Ala1798Val)
c.6140C>T (p.Ala2047Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728901G>CCA394554074CREBBPc.6146C>G (p.Ala2049Gly)
c.6032C>G (p.Ala2011Gly)
c.6101C>G (p.Ala2034Gly)
c.5729C>G (p.Ala1910Gly)
c.5885C>G (p.Ala1962Gly)
c.6092C>G (p.Ala2031Gly)
c.5393C>G (p.Ala1798Gly)
c.6140C>G (p.Ala2047Gly)
16g.3728901G=CA2202916106CREBBPc.6146C= (p.Ala2049=)
c.6032C= (p.Ala2011=)
c.6101C= (p.Ala2034=)
c.5729C= (p.Ala1910=)
c.5885C= (p.Ala1962=)
c.6092C= (p.Ala2031=)
c.5393C= (p.Ala1798=)
c.6140C= (p.Ala2047=)
16g.3728901G>TCA276971757CREBBPc.6146C>A (p.Ala2049Asp)
c.6032C>A (p.Ala2011Asp)
c.6101C>A (p.Ala2034Asp)
c.5729C>A (p.Ala1910Asp)
c.5885C>A (p.Ala1962Asp)
c.6092C>A (p.Ala2031Asp)
c.5393C>A (p.Ala1798Asp)
c.6140C>A (p.Ala2047Asp)
 dbSNP gnomAD v4 COSMIC
16g.3728902C>ACA394554077CREBBPc.6145G>T (p.Ala2049Ser)
c.6031G>T (p.Ala2011Ser)
c.6100G>T (p.Ala2034Ser)
c.5728G>T (p.Ala1910Ser)
c.5884G>T (p.Ala1962Ser)
c.6091G>T (p.Ala2031Ser)
c.5392G>T (p.Ala1798Ser)
c.6139G>T (p.Ala2047Ser)
 gnomAD v4
16g.3728902C=CA2202916107CREBBPc.6145G= (p.Ala2049=)
c.6031G= (p.Ala2011=)
c.6100G= (p.Ala2034=)
c.5728G= (p.Ala1910=)
c.5884G= (p.Ala1962=)
c.6091G= (p.Ala2031=)
c.5392G= (p.Ala1798=)
c.6139G= (p.Ala2047=)
16g.3728902C>GCA7869171CREBBPc.6145G>C (p.Ala2049Pro)
c.6031G>C (p.Ala2011Pro)
c.6100G>C (p.Ala2034Pro)
c.5728G>C (p.Ala1910Pro)
c.5884G>C (p.Ala1962Pro)
c.6091G>C (p.Ala2031Pro)
c.5392G>C (p.Ala1798Pro)
c.6139G>C (p.Ala2047Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728902C>TCA394554079CREBBPc.6145G>A (p.Ala2049Thr)
c.6031G>A (p.Ala2011Thr)
c.6100G>A (p.Ala2034Thr)
c.5728G>A (p.Ala1910Thr)
c.5884G>A (p.Ala1962Thr)
c.6091G>A (p.Ala2031Thr)
c.5392G>A (p.Ala1798Thr)
c.6139G>A (p.Ala2047Thr)
 gnomAD v4
16g.3728903delCA2731850866CREBBPc.6145del (p.Ala2049LeufsTer26)
c.6031del (p.Ala2011LeufsTer26)
c.6100del (p.Ala2034LeufsTer26)
c.5728del (p.Ala1910LeufsTer26)
c.5884del (p.Ala1962LeufsTer26)
c.6091del (p.Ala2031LeufsTer26)
c.5392del (p.Ala1798LeufsTer26)
c.6139del (p.Ala2047LeufsTer26)
 dbSNP
16g.3728903C>ACA493393807CREBBPc.6144G>T (p.Val2048=)
c.6030G>T (p.Val2010=)
c.6099G>T (p.Val2033=)
c.5727G>T (p.Val1909=)
c.5883G>T (p.Val1961=)
c.6090G>T (p.Val2030=)
c.5391G>T (p.Val1797=)
c.6138G>T (p.Val2046=)
16g.3728903C>GCA493393808CREBBPc.6144G>C (p.Val2048=)
c.6030G>C (p.Val2010=)
c.6099G>C (p.Val2033=)
c.5727G>C (p.Val1909=)
c.5883G>C (p.Val1961=)
c.6090G>C (p.Val2030=)
c.5391G>C (p.Val1797=)
c.6138G>C (p.Val2046=)
 dbSNP gnomAD v4
16g.3728903C>TCA493393809CREBBPc.6144G>A (p.Val2048=)
c.6030G>A (p.Val2010=)
c.6099G>A (p.Val2033=)
c.5727G>A (p.Val1909=)
c.5883G>A (p.Val1961=)
c.6090G>A (p.Val2030=)
c.5391G>A (p.Val1797=)
c.6138G>A (p.Val2046=)
16g.3728904A>CCA394554082CREBBPc.6143T>G (p.Val2048Gly)
c.6029T>G (p.Val2010Gly)
c.6098T>G (p.Val2033Gly)
c.5726T>G (p.Val1909Gly)
c.5882T>G (p.Val1961Gly)
c.6089T>G (p.Val2030Gly)
c.5390T>G (p.Val1797Gly)
c.6137T>G (p.Val2046Gly)
 dbSNP
16g.3728904A>GCA394554084CREBBPc.6143T>C (p.Val2048Ala)
c.6029T>C (p.Val2010Ala)
c.6098T>C (p.Val2033Ala)
c.5726T>C (p.Val1909Ala)
c.5882T>C (p.Val1961Ala)
c.6089T>C (p.Val2030Ala)
c.5390T>C (p.Val1797Ala)
c.6137T>C (p.Val2046Ala)
 dbSNP
16g.3728904A>TCA394554086CREBBPc.6143T>A (p.Val2048Glu)
c.6029T>A (p.Val2010Glu)
c.6098T>A (p.Val2033Glu)
c.5726T>A (p.Val1909Glu)
c.5882T>A (p.Val1961Glu)
c.6089T>A (p.Val2030Glu)
c.5390T>A (p.Val1797Glu)
c.6137T>A (p.Val2046Glu)
 dbSNP
16g.3728905C>ACA394554088CREBBPc.6142G>T (p.Val2048Leu)
c.6028G>T (p.Val2010Leu)
c.6097G>T (p.Val2033Leu)
c.5725G>T (p.Val1909Leu)
c.5881G>T (p.Val1961Leu)
c.6088G>T (p.Val2030Leu)
c.5389G>T (p.Val1797Leu)
c.6136G>T (p.Val2046Leu)
 gnomAD v4
16g.3728905C=CA2202916108CREBBPc.6142G= (p.Val2048=)
c.6028G= (p.Val2010=)
c.6097G= (p.Val2033=)
c.5725G= (p.Val1909=)
c.5881G= (p.Val1961=)
c.6088G= (p.Val2030=)
c.5389G= (p.Val1797=)
c.6136G= (p.Val2046=)
16g.3728905C>GCA394554090CREBBPc.6142G>C (p.Val2048Leu)
c.6028G>C (p.Val2010Leu)
c.6097G>C (p.Val2033Leu)
c.5725G>C (p.Val1909Leu)
c.5881G>C (p.Val1961Leu)
c.6088G>C (p.Val2030Leu)
c.5389G>C (p.Val1797Leu)
c.6136G>C (p.Val2046Leu)
 dbSNP
16g.3728905C>TCA7869172CREBBPc.6142G>A (p.Val2048Met)
c.6028G>A (p.Val2010Met)
c.6097G>A (p.Val2033Met)
c.5725G>A (p.Val1909Met)
c.5881G>A (p.Val1961Met)
c.6088G>A (p.Val2030Met)
c.5389G>A (p.Val1797Met)
c.6136G>A (p.Val2046Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3728905_3728906insTCA645575157CREBBPc.6141_6142insA (p.Val2048SerfsTer?)
c.6027_6028insA (p.Val2010SerfsTer?)
c.6096_6097insA (p.Val2033SerfsTer?)
c.5724_5725insA (p.Val1909SerfsTer?)
c.5880_5881insA (p.Val1961SerfsTer?)
c.6087_6088insA (p.Val2030SerfsTer?)
c.5388_5389insA (p.Val1797SerfsTer?)
c.6135_6136insA (p.Val2046SerfsTer?)
 COSMIC
16g.3728906G>ACA7869173CREBBPc.6141C>T (p.Ala2047=)
c.6027C>T (p.Ala2009=)
c.6096C>T (p.Ala2032=)
c.5724C>T (p.Ala1908=)
c.5880C>T (p.Ala1960=)
c.6087C>T (p.Ala2029=)
c.5388C>T (p.Ala1796=)
c.6135C>T (p.Ala2045=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728906G>CCA493393815CREBBPc.6141C>G (p.Ala2047=)
c.6027C>G (p.Ala2009=)
c.6096C>G (p.Ala2032=)
c.5724C>G (p.Ala1908=)
c.5880C>G (p.Ala1960=)
c.6087C>G (p.Ala2029=)
c.5388C>G (p.Ala1796=)
c.6135C>G (p.Ala2045=)
16g.3728906G=CA2202916109CREBBPc.6141C= (p.Ala2047=)
c.6027C= (p.Ala2009=)
c.6096C= (p.Ala2032=)
c.5724C= (p.Ala1908=)
c.5880C= (p.Ala1960=)
c.6087C= (p.Ala2029=)
c.5388C= (p.Ala1796=)
c.6135C= (p.Ala2045=)
16g.3728906G>TCA493393816CREBBPc.6141C>A (p.Ala2047=)
c.6027C>A (p.Ala2009=)
c.6096C>A (p.Ala2032=)
c.5724C>A (p.Ala1908=)
c.5880C>A (p.Ala1960=)
c.6087C>A (p.Ala2029=)
c.5388C>A (p.Ala1796=)
c.6135C>A (p.Ala2045=)
 gnomAD v4
16g.3728907G>ACA394554095CREBBPc.6140C>T (p.Ala2047Val)
c.6026C>T (p.Ala2009Val)
c.6095C>T (p.Ala2032Val)
c.5723C>T (p.Ala1908Val)
c.5879C>T (p.Ala1960Val)
c.6086C>T (p.Ala2029Val)
c.5387C>T (p.Ala1796Val)
c.6134C>T (p.Ala2045Val)
 dbSNP
16g.3728907G>CCA394554097CREBBPc.6140C>G (p.Ala2047Gly)
c.6026C>G (p.Ala2009Gly)
c.6095C>G (p.Ala2032Gly)
c.5723C>G (p.Ala1908Gly)
c.5879C>G (p.Ala1960Gly)
c.6086C>G (p.Ala2029Gly)
c.5387C>G (p.Ala1796Gly)
c.6134C>G (p.Ala2045Gly)
 dbSNP
16g.3728907G>TCA394554098CREBBPc.6140C>A (p.Ala2047Asp)
c.6026C>A (p.Ala2009Asp)
c.6095C>A (p.Ala2032Asp)
c.5723C>A (p.Ala1908Asp)
c.5879C>A (p.Ala1960Asp)
c.6086C>A (p.Ala2029Asp)
c.5387C>A (p.Ala1796Asp)
c.6134C>A (p.Ala2045Asp)
 dbSNP
16g.3728908C>ACA394554103CREBBPc.6139G>T (p.Ala2047Ser)
c.6025G>T (p.Ala2009Ser)
c.6094G>T (p.Ala2032Ser)
c.5722G>T (p.Ala1908Ser)
c.5878G>T (p.Ala1960Ser)
c.6085G>T (p.Ala2029Ser)
c.5386G>T (p.Ala1796Ser)
c.6133G>T (p.Ala2045Ser)
 dbSNP
16g.3728908C>GCA394554104CREBBPc.6139G>C (p.Ala2047Pro)
c.6025G>C (p.Ala2009Pro)
c.6094G>C (p.Ala2032Pro)
c.5722G>C (p.Ala1908Pro)
c.5878G>C (p.Ala1960Pro)
c.6085G>C (p.Ala2029Pro)
c.5386G>C (p.Ala1796Pro)
c.6133G>C (p.Ala2045Pro)
 dbSNP
16g.3728908C>TCA394554101CREBBPc.6139G>A (p.Ala2047Thr)
c.6025G>A (p.Ala2009Thr)
c.6094G>A (p.Ala2032Thr)
c.5722G>A (p.Ala1908Thr)
c.5878G>A (p.Ala1960Thr)
c.6085G>A (p.Ala2029Thr)
c.5386G>A (p.Ala1796Thr)
c.6133G>A (p.Ala2045Thr)
 dbSNP
16g.3728909C>ACA7869175CREBBPc.6138G>T (p.Ala2046=)
c.6024G>T (p.Ala2008=)
c.6093G>T (p.Ala2031=)
c.5721G>T (p.Ala1907=)
c.5877G>T (p.Ala1959=)
c.6084G>T (p.Ala2028=)
c.5385G>T (p.Ala1795=)
c.6132G>T (p.Ala2044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728909C=CA2202916111CREBBPc.6138G= (p.Ala2046=)
c.6024G= (p.Ala2008=)
c.6093G= (p.Ala2031=)
c.5721G= (p.Ala1907=)
c.5877G= (p.Ala1959=)
c.6084G= (p.Ala2028=)
c.5385G= (p.Ala1795=)
c.6132G= (p.Ala2044=)
16g.3728909C>GCA493393818CREBBPc.6138G>C (p.Ala2046=)
c.6024G>C (p.Ala2008=)
c.6093G>C (p.Ala2031=)
c.5721G>C (p.Ala1907=)
c.5877G>C (p.Ala1959=)
c.6084G>C (p.Ala2028=)
c.5385G>C (p.Ala1795=)
c.6132G>C (p.Ala2044=)
16g.3728909C>TCA7869174CREBBPc.6138G>A (p.Ala2046=)
c.6024G>A (p.Ala2008=)
c.6093G>A (p.Ala2031=)
c.5721G>A (p.Ala1907=)
c.5877G>A (p.Ala1959=)
c.6084G>A (p.Ala2028=)
c.5385G>A (p.Ala1795=)
c.6132G>A (p.Ala2044=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728909_3728934delinsCGCCTGGGCCTGCATGGATATCACAGCA2202916110CREBBPc.6113_6138delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2038=)
c.5999_6024delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2000=)
c.6068_6093delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2023=)
c.5696_5721delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1899=)
c.5852_5877delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1951=)
c.6059_6084delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2020=)
c.5360_5385delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1787=)
c.6107_6132delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2036=)
16g.3728910G>ACA7869177CREBBPc.6137C>T (p.Ala2046Val)
c.6023C>T (p.Ala2008Val)
c.6092C>T (p.Ala2031Val)
c.5720C>T (p.Ala1907Val)
c.5876C>T (p.Ala1959Val)
c.6083C>T (p.Ala2028Val)
c.5384C>T (p.Ala1795Val)
c.6131C>T (p.Ala2044Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728910G>CCA394554108CREBBPc.6137C>G (p.Ala2046Gly)
c.6023C>G (p.Ala2008Gly)
c.6092C>G (p.Ala2031Gly)
c.5720C>G (p.Ala1907Gly)
c.5876C>G (p.Ala1959Gly)
c.6083C>G (p.Ala2028Gly)
c.5384C>G (p.Ala1795Gly)
c.6131C>G (p.Ala2044Gly)
 dbSNP
16g.3728910G=CA2202916112CREBBPc.6137C= (p.Ala2046=)
c.6023C= (p.Ala2008=)
c.6092C= (p.Ala2031=)
c.5720C= (p.Ala1907=)
c.5876C= (p.Ala1959=)
c.6083C= (p.Ala2028=)
c.5384C= (p.Ala1795=)
c.6131C= (p.Ala2044=)
16g.3728910G>TCA7869176CREBBPc.6137C>A (p.Ala2046Glu)
c.6023C>A (p.Ala2008Glu)
c.6092C>A (p.Ala2031Glu)
c.5720C>A (p.Ala1907Glu)
c.5876C>A (p.Ala1959Glu)
c.6083C>A (p.Ala2028Glu)
c.5384C>A (p.Ala1795Glu)
c.6131C>A (p.Ala2044Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
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.3728911C>ACA394554111CREBBPc.6136G>T (p.Ala2046Ser)
c.6022G>T (p.Ala2008Ser)
c.6091G>T (p.Ala2031Ser)
c.5719G>T (p.Ala1907Ser)
c.5875G>T (p.Ala1959Ser)
c.6082G>T (p.Ala2028Ser)
c.5383G>T (p.Ala1795Ser)
c.6130G>T (p.Ala2044Ser)
 gnomAD v4
16g.3728911C>GCA394554113CREBBPc.6136G>C (p.Ala2046Pro)
c.6022G>C (p.Ala2008Pro)
c.6091G>C (p.Ala2031Pro)
c.5719G>C (p.Ala1907Pro)
c.5875G>C (p.Ala1959Pro)
c.6082G>C (p.Ala2028Pro)
c.5383G>C (p.Ala1795Pro)
c.6130G>C (p.Ala2044Pro)
 dbSNP
16g.3728911C>TCA394554115CREBBPc.6136G>A (p.Ala2046Thr)
c.6022G>A (p.Ala2008Thr)
c.6091G>A (p.Ala2031Thr)
c.5719G>A (p.Ala1907Thr)
c.5875G>A (p.Ala1959Thr)
c.6082G>A (p.Ala2028Thr)
c.5383G>A (p.Ala1795Thr)
c.6130G>A (p.Ala2044Thr)
16g.3728912C>ACA394554117CREBBPc.6135G>T (p.Gln2045His)
c.6021G>T (p.Gln2007His)
c.6090G>T (p.Gln2030His)
c.5718G>T (p.Gln1906His)
c.5874G>T (p.Gln1958His)
c.6081G>T (p.Gln2027His)
c.5382G>T (p.Gln1794His)
c.6129G>T (p.Gln2043His)
16g.3728912C>GCA394554119CREBBPc.6135G>C (p.Gln2045His)
c.6021G>C (p.Gln2007His)
c.6090G>C (p.Gln2030His)
c.5718G>C (p.Gln1906His)
c.5874G>C (p.Gln1958His)
c.6081G>C (p.Gln2027His)
c.5382G>C (p.Gln1794His)
c.6129G>C (p.Gln2043His)
 dbSNP
16g.3728912C>TCA493393823CREBBPc.6135G>A (p.Gln2045=)
c.6021G>A (p.Gln2007=)
c.6090G>A (p.Gln2030=)
c.5718G>A (p.Gln1906=)
c.5874G>A (p.Gln1958=)
c.6081G>A (p.Gln2027=)
c.5382G>A (p.Gln1794=)
c.6129G>A (p.Gln2043=)
 dbSNP
16g.3728913T>ACA394554120CREBBPc.6134A>T (p.Gln2045Leu)
c.6020A>T (p.Gln2007Leu)
c.6089A>T (p.Gln2030Leu)
c.5717A>T (p.Gln1906Leu)
c.5873A>T (p.Gln1958Leu)
c.6080A>T (p.Gln2027Leu)
c.5381A>T (p.Gln1794Leu)
c.6128A>T (p.Gln2043Leu)
 dbSNP
16g.3728913T>CCA394554121CREBBPc.6134A>G (p.Gln2045Arg)
c.6020A>G (p.Gln2007Arg)
c.6089A>G (p.Gln2030Arg)
c.5717A>G (p.Gln1906Arg)
c.5873A>G (p.Gln1958Arg)
c.6080A>G (p.Gln2027Arg)
c.5381A>G (p.Gln1794Arg)
c.6128A>G (p.Gln2043Arg)
16g.3728913T>GCA394554122CREBBPc.6134A>C (p.Gln2045Pro)
c.6020A>C (p.Gln2007Pro)
c.6089A>C (p.Gln2030Pro)
c.5717A>C (p.Gln1906Pro)
c.5873A>C (p.Gln1958Pro)
c.6080A>C (p.Gln2027Pro)
c.5381A>C (p.Gln1794Pro)
c.6128A>C (p.Gln2043Pro)
16g.3728914G>ACA394554128CREBBPc.6133C>T (p.Gln2045Ter)
c.6019C>T (p.Gln2007Ter)
c.6088C>T (p.Gln2030Ter)
c.5716C>T (p.Gln1906Ter)
c.5872C>T (p.Gln1958Ter)
c.6079C>T (p.Gln2027Ter)
c.5380C>T (p.Gln1794Ter)
c.6127C>T (p.Gln2043Ter)
 ClinVar dbSNP
16g.3728914G>CCA394554126CREBBPc.6133C>G (p.Gln2045Glu)
c.6019C>G (p.Gln2007Glu)
c.6088C>G (p.Gln2030Glu)
c.5716C>G (p.Gln1906Glu)
c.5872C>G (p.Gln1958Glu)
c.6079C>G (p.Gln2027Glu)
c.5380C>G (p.Gln1794Glu)
c.6127C>G (p.Gln2043Glu)
 dbSNP
16g.3728914G>TCA394554124CREBBPc.6133C>A (p.Gln2045Lys)
c.6019C>A (p.Gln2007Lys)
c.6088C>A (p.Gln2030Lys)
c.5716C>A (p.Gln1906Lys)
c.5872C>A (p.Gln1958Lys)
c.6079C>A (p.Gln2027Lys)
c.5380C>A (p.Gln1794Lys)
c.6127C>A (p.Gln2043Lys)
 dbSNP
16g.3728915G>ACA493393824CREBBPc.6132C>T (p.Ala2044=)
c.6018C>T (p.Ala2006=)
c.6087C>T (p.Ala2029=)
c.5715C>T (p.Ala1905=)
c.5871C>T (p.Ala1957=)
c.6078C>T (p.Ala2026=)
c.5379C>T (p.Ala1793=)
c.6126C>T (p.Ala2042=)
 dbSNP
16g.3728915G>CCA493393825CREBBPc.6132C>G (p.Ala2044=)
c.6018C>G (p.Ala2006=)
c.6087C>G (p.Ala2029=)
c.5715C>G (p.Ala1905=)
c.5871C>G (p.Ala1957=)
c.6078C>G (p.Ala2026=)
c.5379C>G (p.Ala1793=)
c.6126C>G (p.Ala2042=)
 dbSNP
16g.3728915G>TCA493393826CREBBPc.6132C>A (p.Ala2044=)
c.6018C>A (p.Ala2006=)
c.6087C>A (p.Ala2029=)
c.5715C>A (p.Ala1905=)
c.5871C>A (p.Ala1957=)
c.6078C>A (p.Ala2026=)
c.5379C>A (p.Ala1793=)
c.6126C>A (p.Ala2042=)
 dbSNP gnomAD v4 COSMIC
16g.3728916G>ACA7869178CREBBPc.6131C>T (p.Ala2044Val)
c.6017C>T (p.Ala2006Val)
c.6086C>T (p.Ala2029Val)
c.5714C>T (p.Ala1905Val)
c.5870C>T (p.Ala1957Val)
c.6077C>T (p.Ala2026Val)
c.5378C>T (p.Ala1793Val)
c.6125C>T (p.Ala2042Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3728916G>CCA394554131CREBBPc.6131C>G (p.Ala2044Gly)
c.6017C>G (p.Ala2006Gly)
c.6086C>G (p.Ala2029Gly)
c.5714C>G (p.Ala1905Gly)
c.5870C>G (p.Ala1957Gly)
c.6077C>G (p.Ala2026Gly)
c.5378C>G (p.Ala1793Gly)
c.6125C>G (p.Ala2042Gly)
 dbSNP
16g.3728916G=CA2202916113CREBBPc.6131C= (p.Ala2044=)
c.6017C= (p.Ala2006=)
c.6086C= (p.Ala2029=)
c.5714C= (p.Ala1905=)
c.5870C= (p.Ala1957=)
c.6077C= (p.Ala2026=)
c.5378C= (p.Ala1793=)
c.6125C= (p.Ala2042=)
16g.3728916G>TCA394554133CREBBPc.6131C>A (p.Ala2044Asp)
c.6017C>A (p.Ala2006Asp)
c.6086C>A (p.Ala2029Asp)
c.5714C>A (p.Ala1905Asp)
c.5870C>A (p.Ala1957Asp)
c.6077C>A (p.Ala2026Asp)
c.5378C>A (p.Ala1793Asp)
c.6125C>A (p.Ala2042Asp)
 dbSNP gnomAD v4
16g.3728917C>ACA394554136CREBBPc.6130G>T (p.Ala2044Ser)
c.6016G>T (p.Ala2006Ser)
c.6085G>T (p.Ala2029Ser)
c.5713G>T (p.Ala1905Ser)
c.5869G>T (p.Ala1957Ser)
c.6076G>T (p.Ala2026Ser)
c.5377G>T (p.Ala1793Ser)
c.6124G>T (p.Ala2042Ser)
 dbSNP gnomAD v4 COSMIC
16g.3728917C=CA2202916114CREBBPc.6130G= (p.Ala2044=)
c.6016G= (p.Ala2006=)
c.6085G= (p.Ala2029=)
c.5713G= (p.Ala1905=)
c.5869G= (p.Ala1957=)
c.6076G= (p.Ala2026=)
c.5377G= (p.Ala1793=)
c.6124G= (p.Ala2042=)
16g.3728917C>GCA394554137CREBBPc.6130G>C (p.Ala2044Pro)
c.6016G>C (p.Ala2006Pro)
c.6085G>C (p.Ala2029Pro)
c.5713G>C (p.Ala1905Pro)
c.5869G>C (p.Ala1957Pro)
c.6076G>C (p.Ala2026Pro)
c.5377G>C (p.Ala1793Pro)
c.6124G>C (p.Ala2042Pro)
 dbSNP
16g.3728917C>TCA394554139CREBBPc.6130G>A (p.Ala2044Thr)
c.6016G>A (p.Ala2006Thr)
c.6085G>A (p.Ala2029Thr)
c.5713G>A (p.Ala1905Thr)
c.5869G>A (p.Ala1957Thr)
c.6076G>A (p.Ala2026Thr)
c.5377G>A (p.Ala1793Thr)
c.6124G>A (p.Ala2042Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728918C>ACA394554142CREBBPc.6129G>T (p.Gln2043His)
c.6015G>T (p.Gln2005His)
c.6084G>T (p.Gln2028His)
c.5712G>T (p.Gln1904His)
c.5868G>T (p.Gln1956His)
c.6075G>T (p.Gln2025His)
c.5376G>T (p.Gln1792His)
c.6123G>T (p.Gln2041His)
16g.3728918C>GCA394554143CREBBPc.6129G>C (p.Gln2043His)
c.6015G>C (p.Gln2005His)
c.6084G>C (p.Gln2028His)
c.5712G>C (p.Gln1904His)
c.5868G>C (p.Gln1956His)
c.6075G>C (p.Gln2025His)
c.5376G>C (p.Gln1792His)
c.6123G>C (p.Gln2041His)
 dbSNP
16g.3728918C>TCA493393827CREBBPc.6129G>A (p.Gln2043=)
c.6015G>A (p.Gln2005=)
c.6084G>A (p.Gln2028=)
c.5712G>A (p.Gln1904=)
c.5868G>A (p.Gln1956=)
c.6075G>A (p.Gln2025=)
c.5376G>A (p.Gln1792=)
c.6123G>A (p.Gln2041=)
 gnomAD v4
16g.3728919T>ACA394554144CREBBPc.6128A>T (p.Gln2043Leu)
c.6014A>T (p.Gln2005Leu)
c.6083A>T (p.Gln2028Leu)
c.5711A>T (p.Gln1904Leu)
c.5867A>T (p.Gln1956Leu)
c.6074A>T (p.Gln2025Leu)
c.5375A>T (p.Gln1792Leu)
c.6122A>T (p.Gln2041Leu)
 dbSNP
16g.3728919T>CCA394554146CREBBPc.6128A>G (p.Gln2043Arg)
c.6014A>G (p.Gln2005Arg)
c.6083A>G (p.Gln2028Arg)
c.5711A>G (p.Gln1904Arg)
c.5867A>G (p.Gln1956Arg)
c.6074A>G (p.Gln2025Arg)
c.5375A>G (p.Gln1792Arg)
c.6122A>G (p.Gln2041Arg)
 dbSNP gnomAD v4
16g.3728919T>GCA394554148CREBBPc.6128A>C (p.Gln2043Pro)
c.6014A>C (p.Gln2005Pro)
c.6083A>C (p.Gln2028Pro)
c.5711A>C (p.Gln1904Pro)
c.5867A>C (p.Gln1956Pro)
c.6074A>C (p.Gln2025Pro)
c.5375A>C (p.Gln1792Pro)
c.6122A>C (p.Gln2041Pro)
 dbSNP
16g.3728920G>ACA394554150CREBBPc.6127C>T (p.Gln2043Ter)
c.6013C>T (p.Gln2005Ter)
c.6082C>T (p.Gln2028Ter)
c.5710C>T (p.Gln1904Ter)
c.5866C>T (p.Gln1956Ter)
c.6073C>T (p.Gln2025Ter)
c.5374C>T (p.Gln1792Ter)
c.6121C>T (p.Gln2041Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.3728920G>CCA394554152CREBBPc.6127C>G (p.Gln2043Glu)
c.6013C>G (p.Gln2005Glu)
c.6082C>G (p.Gln2028Glu)
c.5710C>G (p.Gln1904Glu)
c.5866C>G (p.Gln1956Glu)
c.6073C>G (p.Gln2025Glu)
c.5374C>G (p.Gln1792Glu)
c.6121C>G (p.Gln2041Glu)
 dbSNP
16g.3728920G=CA2202916115CREBBPc.6127C= (p.Gln2043=)
c.6013C= (p.Gln2005=)
c.6082C= (p.Gln2028=)
c.5710C= (p.Gln1904=)
c.5866C= (p.Gln1956=)
c.6073C= (p.Gln2025=)
c.5374C= (p.Gln1792=)
c.6121C= (p.Gln2041=)
16g.3728920G>TCA394554154CREBBPc.6127C>A (p.Gln2043Lys)
c.6013C>A (p.Gln2005Lys)
c.6082C>A (p.Gln2028Lys)
c.5710C>A (p.Gln1904Lys)
c.5866C>A (p.Gln1956Lys)
c.6073C>A (p.Gln2025Lys)
c.5374C>A (p.Gln1792Lys)
c.6121C>A (p.Gln2041Lys)
 gnomAD v4
16g.3728921C>ACA276971775CREBBPc.6126G>T (p.Met2042Ile)
c.6012G>T (p.Met2004Ile)
c.6081G>T (p.Met2027Ile)
c.5709G>T (p.Met1903Ile)
c.5865G>T (p.Met1955Ile)
c.6072G>T (p.Met2024Ile)
c.5373G>T (p.Met1791Ile)
c.6120G>T (p.Met2040Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3728921C=CA2202916116CREBBPc.6126G= (p.Met2042=)
c.6012G= (p.Met2004=)
c.6081G= (p.Met2027=)
c.5709G= (p.Met1903=)
c.5865G= (p.Met1955=)
c.6072G= (p.Met2024=)
c.5373G= (p.Met1791=)
c.6120G= (p.Met2040=)
16g.3728921C>GCA394554159CREBBPc.6126G>C (p.Met2042Ile)
c.6012G>C (p.Met2004Ile)
c.6081G>C (p.Met2027Ile)
c.5709G>C (p.Met1903Ile)
c.5865G>C (p.Met1955Ile)
c.6072G>C (p.Met2024Ile)
c.5373G>C (p.Met1791Ile)
c.6120G>C (p.Met2040Ile)
 dbSNP
16g.3728921C>TCA394554157CREBBPc.6126G>A (p.Met2042Ile)
c.6012G>A (p.Met2004Ile)
c.6081G>A (p.Met2027Ile)
c.5709G>A (p.Met1903Ile)
c.5865G>A (p.Met1955Ile)
c.6072G>A (p.Met2024Ile)
c.5373G>A (p.Met1791Ile)
c.6120G>A (p.Met2040Ile)
 dbSNP gnomAD v4
16g.3728922A>CCA394554163CREBBPc.6125T>G (p.Met2042Arg)
c.6011T>G (p.Met2004Arg)
c.6080T>G (p.Met2027Arg)
c.5708T>G (p.Met1903Arg)
c.5864T>G (p.Met1955Arg)
c.6071T>G (p.Met2024Arg)
c.5372T>G (p.Met1791Arg)
c.6119T>G (p.Met2040Arg)
16g.3728922A>GCA394554166CREBBPc.6125T>C (p.Met2042Thr)
c.6011T>C (p.Met2004Thr)
c.6080T>C (p.Met2027Thr)
c.5708T>C (p.Met1903Thr)
c.5864T>C (p.Met1955Thr)
c.6071T>C (p.Met2024Thr)
c.5372T>C (p.Met1791Thr)
c.6119T>C (p.Met2040Thr)
 gnomAD v4
16g.3728922A>TCA394554164CREBBPc.6125T>A (p.Met2042Lys)
c.6011T>A (p.Met2004Lys)
c.6080T>A (p.Met2027Lys)
c.5708T>A (p.Met1903Lys)
c.5864T>A (p.Met1955Lys)
c.6071T>A (p.Met2024Lys)
c.5372T>A (p.Met1791Lys)
c.6119T>A (p.Met2040Lys)
16g.3728924_3728927delCA2695222741CREBBPc.6122_6125del (p.Ser2041CysfsTer?)
c.6008_6011del (p.Ser2003CysfsTer?)
c.6077_6080del (p.Ser2026CysfsTer?)
c.5705_5708del (p.Ser1902CysfsTer?)
c.5861_5864del (p.Ser1954CysfsTer?)
c.6068_6071del (p.Ser2023CysfsTer?)
c.5369_5372del (p.Ser1790CysfsTer?)
c.6116_6119del (p.Ser2039CysfsTer?)
16g.3728923T>ACA394554169CREBBPc.6124A>T (p.Met2042Leu)
c.6010A>T (p.Met2004Leu)
c.6079A>T (p.Met2027Leu)
c.5707A>T (p.Met1903Leu)
c.5863A>T (p.Met1955Leu)
c.6070A>T (p.Met2024Leu)
c.5371A>T (p.Met1791Leu)
c.6118A>T (p.Met2040Leu)
 ClinVar
16g.3728923T>CCA394554172CREBBPc.6124A>G (p.Met2042Val)
c.6010A>G (p.Met2004Val)
c.6079A>G (p.Met2027Val)
c.5707A>G (p.Met1903Val)
c.5863A>G (p.Met1955Val)
c.6070A>G (p.Met2024Val)
c.5371A>G (p.Met1791Val)
c.6118A>G (p.Met2040Val)
16g.3728923T>GCA394554170CREBBPc.6124A>C (p.Met2042Leu)
c.6010A>C (p.Met2004Leu)
c.6079A>C (p.Met2027Leu)
c.5707A>C (p.Met1903Leu)
c.5863A>C (p.Met1955Leu)
c.6070A>C (p.Met2024Leu)
c.5371A>C (p.Met1791Leu)
c.6118A>C (p.Met2040Leu)
16g.3728924G>ACA7869179CREBBPc.6123C>T (p.Ser2041=)
c.6009C>T (p.Ser2003=)
c.6078C>T (p.Ser2026=)
c.5706C>T (p.Ser1902=)
c.5862C>T (p.Ser1954=)
c.6069C>T (p.Ser2023=)
c.5370C>T (p.Ser1790=)
c.6117C>T (p.Ser2039=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728924G>CCA493393828CREBBPc.6123C>G (p.Ser2041=)
c.6009C>G (p.Ser2003=)
c.6078C>G (p.Ser2026=)
c.5706C>G (p.Ser1902=)
c.5862C>G (p.Ser1954=)
c.6069C>G (p.Ser2023=)
c.5370C>G (p.Ser1790=)
c.6117C>G (p.Ser2039=)
16g.3728924G=CA2202916117CREBBPc.6123C= (p.Ser2041=)
c.6009C= (p.Ser2003=)
c.6078C= (p.Ser2026=)
c.5706C= (p.Ser1902=)
c.5862C= (p.Ser1954=)
c.6069C= (p.Ser2023=)
c.5370C= (p.Ser1790=)
c.6117C= (p.Ser2039=)
16g.3728924G>TCA493393829CREBBPc.6123C>A (p.Ser2041=)
c.6009C>A (p.Ser2003=)
c.6078C>A (p.Ser2026=)
c.5706C>A (p.Ser1902=)
c.5862C>A (p.Ser1954=)
c.6069C>A (p.Ser2023=)
c.5370C>A (p.Ser1790=)
c.6117C>A (p.Ser2039=)
 dbSNP
16g.3728925delCA2740093245CREBBPc.6123del (p.Met2042CysfsTer?)
c.6009del (p.Met2004CysfsTer?)
c.6078del (p.Met2027CysfsTer?)
c.5706del (p.Met1903CysfsTer?)
c.5862del (p.Met1955CysfsTer?)
c.6069del (p.Met2024CysfsTer?)
c.5370del (p.Met1791CysfsTer?)
c.6117del (p.Met2040CysfsTer?)
 ClinVar
16g.3728925G>ACA394554175CREBBPc.6122C>T (p.Ser2041Phe)
c.6008C>T (p.Ser2003Phe)
c.6077C>T (p.Ser2026Phe)
c.5705C>T (p.Ser1902Phe)
c.5861C>T (p.Ser1954Phe)
c.6068C>T (p.Ser2023Phe)
c.5369C>T (p.Ser1790Phe)
c.6116C>T (p.Ser2039Phe)
 dbSNP gnomAD v4
16g.3728925G>CCA394554176CREBBPc.6122C>G (p.Ser2041Cys)
c.6008C>G (p.Ser2003Cys)
c.6077C>G (p.Ser2026Cys)
c.5705C>G (p.Ser1902Cys)
c.5861C>G (p.Ser1954Cys)
c.6068C>G (p.Ser2023Cys)
c.5369C>G (p.Ser1790Cys)
c.6116C>G (p.Ser2039Cys)
 dbSNP
16g.3728925G>TCA394554177CREBBPc.6122C>A (p.Ser2041Tyr)
c.6008C>A (p.Ser2003Tyr)
c.6077C>A (p.Ser2026Tyr)
c.5705C>A (p.Ser1902Tyr)
c.5861C>A (p.Ser1954Tyr)
c.6068C>A (p.Ser2023Tyr)
c.5369C>A (p.Ser1790Tyr)
c.6116C>A (p.Ser2039Tyr)
 dbSNP
16g.3728926A=CA2202916118CREBBPc.6121T= (p.Ser2041=)
c.6007T= (p.Ser2003=)
c.6076T= (p.Ser2026=)
c.5704T= (p.Ser1902=)
c.5860T= (p.Ser1954=)
c.6067T= (p.Ser2023=)
c.5368T= (p.Ser1790=)
c.6115T= (p.Ser2039=)
16g.3728926A>CCA7869180CREBBPc.6121T>G (p.Ser2041Ala)
c.6007T>G (p.Ser2003Ala)
c.6076T>G (p.Ser2026Ala)
c.5704T>G (p.Ser1902Ala)
c.5860T>G (p.Ser1954Ala)
c.6067T>G (p.Ser2023Ala)
c.5368T>G (p.Ser1790Ala)
c.6115T>G (p.Ser2039Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728926A>GCA394554178CREBBPc.6121T>C (p.Ser2041Pro)
c.6007T>C (p.Ser2003Pro)
c.6076T>C (p.Ser2026Pro)
c.5704T>C (p.Ser1902Pro)
c.5860T>C (p.Ser1954Pro)
c.6067T>C (p.Ser2023Pro)
c.5368T>C (p.Ser1790Pro)
c.6115T>C (p.Ser2039Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3728926A>TCA394554179CREBBPc.6121T>A (p.Ser2041Thr)
c.6007T>A (p.Ser2003Thr)
c.6076T>A (p.Ser2026Thr)
c.5704T>A (p.Ser1902Thr)
c.5860T>A (p.Ser1954Thr)
c.6067T>A (p.Ser2023Thr)
c.5368T>A (p.Ser1790Thr)
c.6115T>A (p.Ser2039Thr)
16g.3728927T>ACA493393830CREBBPc.6120A>T (p.Ile2040=)
c.6006A>T (p.Ile2002=)
c.6075A>T (p.Ile2025=)
c.5703A>T (p.Ile1901=)
c.5859A>T (p.Ile1953=)
c.6066A>T (p.Ile2022=)
c.5367A>T (p.Ile1789=)
c.6114A>T (p.Ile2038=)
 dbSNP
16g.3728927T>CCA394554180CREBBPc.6120A>G (p.Ile2040Met)
c.6006A>G (p.Ile2002Met)
c.6075A>G (p.Ile2025Met)
c.5703A>G (p.Ile1901Met)
c.5859A>G (p.Ile1953Met)
c.6066A>G (p.Ile2022Met)
c.5367A>G (p.Ile1789Met)
c.6114A>G (p.Ile2038Met)
16g.3728927T>GCA493393831CREBBPc.6120A>C (p.Ile2040=)
c.6006A>C (p.Ile2002=)
c.6075A>C (p.Ile2025=)
c.5703A>C (p.Ile1901=)
c.5859A>C (p.Ile1953=)
c.6066A>C (p.Ile2022=)
c.5367A>C (p.Ile1789=)
c.6114A>C (p.Ile2038=)
16g.3728927T=CA2202916119CREBBPc.6120A= (p.Ile2040=)
c.6006A= (p.Ile2002=)
c.6075A= (p.Ile2025=)
c.5703A= (p.Ile1901=)
c.5859A= (p.Ile1953=)
c.6066A= (p.Ile2022=)
c.5367A= (p.Ile1789=)
c.6114A= (p.Ile2038=)
16g.3728928A=CA2202916120CREBBPc.6119T= (p.Ile2040=)
c.6005T= (p.Ile2002=)
c.6074T= (p.Ile2025=)
c.5702T= (p.Ile1901=)
c.5858T= (p.Ile1953=)
c.6065T= (p.Ile2022=)
c.5366T= (p.Ile1789=)
c.6113T= (p.Ile2038=)
16g.3728928A>CCA394554181CREBBPc.6119T>G (p.Ile2040Arg)
c.6005T>G (p.Ile2002Arg)
c.6074T>G (p.Ile2025Arg)
c.5702T>G (p.Ile1901Arg)
c.5858T>G (p.Ile1953Arg)
c.6065T>G (p.Ile2022Arg)
c.5366T>G (p.Ile1789Arg)
c.6113T>G (p.Ile2038Arg)
 dbSNP
16g.3728928A>GCA394554182CREBBPc.6119T>C (p.Ile2040Thr)
c.6005T>C (p.Ile2002Thr)
c.6074T>C (p.Ile2025Thr)
c.5702T>C (p.Ile1901Thr)
c.5858T>C (p.Ile1953Thr)
c.6065T>C (p.Ile2022Thr)
c.5366T>C (p.Ile1789Thr)
c.6113T>C (p.Ile2038Thr)
 ClinVar dbSNP
16g.3728928A>TCA7869181CREBBPc.6119T>A (p.Ile2040Lys)
c.6005T>A (p.Ile2002Lys)
c.6074T>A (p.Ile2025Lys)
c.5702T>A (p.Ile1901Lys)
c.5858T>A (p.Ile1953Lys)
c.6065T>A (p.Ile2022Lys)
c.5366T>A (p.Ile1789Lys)
c.6113T>A (p.Ile2038Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3728929T>ACA394554185CREBBPc.6118A>T (p.Ile2040Leu)
c.6004A>T (p.Ile2002Leu)
c.6073A>T (p.Ile2025Leu)
c.5701A>T (p.Ile1901Leu)
c.5857A>T (p.Ile1953Leu)
c.6064A>T (p.Ile2022Leu)
c.5365A>T (p.Ile1789Leu)
c.6112A>T (p.Ile2038Leu)
16g.3728929T>CCA394554184CREBBPc.6118A>G (p.Ile2040Val)
c.6004A>G (p.Ile2002Val)
c.6073A>G (p.Ile2025Val)
c.5701A>G (p.Ile1901Val)
c.5857A>G (p.Ile1953Val)
c.6064A>G (p.Ile2022Val)
c.5365A>G (p.Ile1789Val)
c.6112A>G (p.Ile2038Val)
 dbSNP gnomAD v3 gnomAD v4
16g.3728929T>GCA394554183CREBBPc.6118A>C (p.Ile2040Leu)
c.6004A>C (p.Ile2002Leu)
c.6073A>C (p.Ile2025Leu)
c.5701A>C (p.Ile1901Leu)
c.5857A>C (p.Ile1953Leu)
c.6064A>C (p.Ile2022Leu)
c.5365A>C (p.Ile1789Leu)
c.6112A>C (p.Ile2038Leu)
 gnomAD v4
16g.3728929T=CA2202916121CREBBPc.6118A= (p.Ile2040=)
c.6004A= (p.Ile2002=)
c.6073A= (p.Ile2025=)
c.5701A= (p.Ile1901=)
c.5857A= (p.Ile1953=)
c.6064A= (p.Ile2022=)
c.5365A= (p.Ile1789=)
c.6112A= (p.Ile2038=)
16g.3728930C>ACA493393833CREBBPc.6117G>T (p.Val2039=)
c.6003G>T (p.Val2001=)
c.6072G>T (p.Val2024=)
c.5700G>T (p.Val1900=)
c.5856G>T (p.Val1952=)
c.6063G>T (p.Val2021=)
c.5364G>T (p.Val1788=)
c.6111G>T (p.Val2037=)
 dbSNP
16g.3728930C>GCA493393834CREBBPc.6117G>C (p.Val2039=)
c.6003G>C (p.Val2001=)
c.6072G>C (p.Val2024=)
c.5700G>C (p.Val1900=)
c.5856G>C (p.Val1952=)
c.6063G>C (p.Val2021=)
c.5364G>C (p.Val1788=)
c.6111G>C (p.Val2037=)
 dbSNP
16g.3728930C>TCA493393832CREBBPc.6117G>A (p.Val2039=)
c.6003G>A (p.Val2001=)
c.6072G>A (p.Val2024=)
c.5700G>A (p.Val1900=)
c.5856G>A (p.Val1952=)
c.6063G>A (p.Val2021=)
c.5364G>A (p.Val1788=)
c.6111G>A (p.Val2037=)
 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.3728931A>CCA394554186CREBBPc.6116T>G (p.Val2039Gly)
c.6002T>G (p.Val2001Gly)
c.6071T>G (p.Val2024Gly)
c.5699T>G (p.Val1900Gly)
c.5855T>G (p.Val1952Gly)
c.6062T>G (p.Val2021Gly)
c.5363T>G (p.Val1788Gly)
c.6110T>G (p.Val2037Gly)
 dbSNP gnomAD v4
16g.3728931A>GCA394554187CREBBPc.6116T>C (p.Val2039Ala)
c.6002T>C (p.Val2001Ala)
c.6071T>C (p.Val2024Ala)
c.5699T>C (p.Val1900Ala)
c.5855T>C (p.Val1952Ala)
c.6062T>C (p.Val2021Ala)
c.5363T>C (p.Val1788Ala)
c.6110T>C (p.Val2037Ala)
 dbSNP gnomAD v4
16g.3728931A>TCA394554188CREBBPc.6116T>A (p.Val2039Glu)
c.6002T>A (p.Val2001Glu)
c.6071T>A (p.Val2024Glu)
c.5699T>A (p.Val1900Glu)
c.5855T>A (p.Val1952Glu)
c.6062T>A (p.Val2021Glu)
c.5363T>A (p.Val1788Glu)
c.6110T>A (p.Val2037Glu)
 dbSNP
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.3728932C>ACA394554189CREBBPc.6115G>T (p.Val2039Leu)
c.6001G>T (p.Val2001Leu)
c.6070G>T (p.Val2024Leu)
c.5698G>T (p.Val1900Leu)
c.5854G>T (p.Val1952Leu)
c.6061G>T (p.Val2021Leu)
c.5362G>T (p.Val1788Leu)
c.6109G>T (p.Val2037Leu)
 dbSNP gnomAD v4
16g.3728932C=CA2202916123CREBBPc.6115G= (p.Val2039=)
c.6001G= (p.Val2001=)
c.6070G= (p.Val2024=)
c.5698G= (p.Val1900=)
c.5854G= (p.Val1952=)
c.6061G= (p.Val2021=)
c.5362G= (p.Val1788=)
c.6109G= (p.Val2037=)
16g.3728932C>GCA394554190CREBBPc.6115G>C (p.Val2039Leu)
c.6001G>C (p.Val2001Leu)
c.6070G>C (p.Val2024Leu)
c.5698G>C (p.Val1900Leu)
c.5854G>C (p.Val1952Leu)
c.6061G>C (p.Val2021Leu)
c.5362G>C (p.Val1788Leu)
c.6109G>C (p.Val2037Leu)
 dbSNP
16g.3728932C>TCA394554191CREBBPc.6115G>A (p.Val2039Met)
c.6001G>A (p.Val2001Met)
c.6070G>A (p.Val2024Met)
c.5698G>A (p.Val1900Met)
c.5854G>A (p.Val1952Met)
c.6061G>A (p.Val2021Met)
c.5362G>A (p.Val1788Met)
c.6109G>A (p.Val2037Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3728933A>CCA493393837CREBBPc.6114T>G (p.Pro2038=)
c.6000T>G (p.Pro2000=)
c.6069T>G (p.Pro2023=)
c.5697T>G (p.Pro1899=)
c.5853T>G (p.Pro1951=)
c.6060T>G (p.Pro2020=)
c.5361T>G (p.Pro1787=)
c.6108T>G (p.Pro2036=)
 dbSNP
16g.3728933A>GCA493393836CREBBPc.6114T>C (p.Pro2038=)
c.6000T>C (p.Pro2000=)
c.6069T>C (p.Pro2023=)
c.5697T>C (p.Pro1899=)
c.5853T>C (p.Pro1951=)
c.6060T>C (p.Pro2020=)
c.5361T>C (p.Pro1787=)
c.6108T>C (p.Pro2036=)
 dbSNP gnomAD v4
16g.3728933A>TCA493393835CREBBPc.6114T>A (p.Pro2038=)
c.6000T>A (p.Pro2000=)
c.6069T>A (p.Pro2023=)
c.5697T>A (p.Pro1899=)
c.5853T>A (p.Pro1951=)
c.6060T>A (p.Pro2020=)
c.5361T>A (p.Pro1787=)
c.6108T>A (p.Pro2036=)
 dbSNP
16g.3728934G>ACA394554192CREBBPc.6113C>T (p.Pro2038Leu)
c.5999C>T (p.Pro2000Leu)
c.6068C>T (p.Pro2023Leu)
c.5696C>T (p.Pro1899Leu)
c.5852C>T (p.Pro1951Leu)
c.6059C>T (p.Pro2020Leu)
c.5360C>T (p.Pro1787Leu)
c.6107C>T (p.Pro2036Leu)
 dbSNP
16g.3728934G>CCA394554193CREBBPc.6113C>G (p.Pro2038Arg)
c.5999C>G (p.Pro2000Arg)
c.6068C>G (p.Pro2023Arg)
c.5696C>G (p.Pro1899Arg)
c.5852C>G (p.Pro1951Arg)
c.6059C>G (p.Pro2020Arg)
c.5360C>G (p.Pro1787Arg)
c.6107C>G (p.Pro2036Arg)
16g.3728934G>TCA394554194CREBBPc.6113C>A (p.Pro2038His)
c.5999C>A (p.Pro2000His)
c.6068C>A (p.Pro2023His)
c.5696C>A (p.Pro1899His)
c.5852C>A (p.Pro1951His)
c.6059C>A (p.Pro2020His)
c.5360C>A (p.Pro1787His)
c.6107C>A (p.Pro2036His)
 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.3728937delCA2825002417CREBBPc.6111del (p.Arg2037SerfsTer3)
c.5997del (p.Arg1999SerfsTer3)
c.6066del (p.Arg2022SerfsTer3)
c.5694del (p.Arg1898SerfsTer3)
c.5850del (p.Arg1950SerfsTer3)
c.6057del (p.Arg2019SerfsTer3)
c.5358del (p.Arg1786SerfsTer3)
c.6105del (p.Arg2035SerfsTer3)
 ClinVar
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)
 ClinVar 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)

Number of alleles fetched