Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3727882C>ACA394550401CREBBPc.7165G>T (p.Val2389Phe)
c.7051G>T (p.Val2351Phe)
c.7120G>T (p.Val2374Phe)
c.6748G>T (p.Val2250Phe)
c.6904G>T (p.Val2302Phe)
c.7111G>T (p.Val2371Phe)
c.6412G>T (p.Val2138Phe)
c.7159G>T (p.Val2387Phe)
dbSNP
16g.3727882C>GCA394550403CREBBPc.7165G>C (p.Val2389Leu)
c.7051G>C (p.Val2351Leu)
c.7120G>C (p.Val2374Leu)
c.6748G>C (p.Val2250Leu)
c.6904G>C (p.Val2302Leu)
c.7111G>C (p.Val2371Leu)
c.6412G>C (p.Val2138Leu)
c.7159G>C (p.Val2387Leu)
dbSNP
16g.3727882C>TCA394550402CREBBPc.7165G>A (p.Val2389Ile)
c.7051G>A (p.Val2351Ile)
c.7120G>A (p.Val2374Ile)
c.6748G>A (p.Val2250Ile)
c.6904G>A (p.Val2302Ile)
c.7111G>A (p.Val2371Ile)
c.6412G>A (p.Val2138Ile)
c.7159G>A (p.Val2387Ile)
dbSNP gnomAD v4
16g.3727883T>ACA493393263CREBBPc.7164A>T (p.Ala2388=)
c.7050A>T (p.Ala2350=)
c.7119A>T (p.Ala2373=)
c.6747A>T (p.Ala2249=)
c.6903A>T (p.Ala2301=)
c.7110A>T (p.Ala2370=)
c.6411A>T (p.Ala2137=)
c.7158A>T (p.Ala2386=)
dbSNP gnomAD v4
16g.3727883T>CCA7868941CREBBPc.7164A>G (p.Ala2388=)
c.7050A>G (p.Ala2350=)
c.7119A>G (p.Ala2373=)
c.6747A>G (p.Ala2249=)
c.6903A>G (p.Ala2301=)
c.7110A>G (p.Ala2370=)
c.6411A>G (p.Ala2137=)
c.7158A>G (p.Ala2386=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727883T>GCA493393264CREBBPc.7164A>C (p.Ala2388=)
c.7050A>C (p.Ala2350=)
c.7119A>C (p.Ala2373=)
c.6747A>C (p.Ala2249=)
c.6903A>C (p.Ala2301=)
c.7110A>C (p.Ala2370=)
c.6411A>C (p.Ala2137=)
c.7158A>C (p.Ala2386=)
dbSNP gnomAD v4
16g.3727883T=CA2202928381CREBBPc.7164A= (p.Ala2388=)
c.7050A= (p.Ala2350=)
c.7119A= (p.Ala2373=)
c.6747A= (p.Ala2249=)
c.6903A= (p.Ala2301=)
c.7110A= (p.Ala2370=)
c.6411A= (p.Ala2137=)
c.7158A= (p.Ala2386=)
16g.3727884G>ACA394550404CREBBPc.7163C>T (p.Ala2388Val)
c.7049C>T (p.Ala2350Val)
c.7118C>T (p.Ala2373Val)
c.6746C>T (p.Ala2249Val)
c.6902C>T (p.Ala2301Val)
c.7109C>T (p.Ala2370Val)
c.6410C>T (p.Ala2137Val)
c.7157C>T (p.Ala2386Val)
dbSNP gnomAD v4
16g.3727884G>CCA394550405CREBBPc.7163C>G (p.Ala2388Gly)
c.7049C>G (p.Ala2350Gly)
c.7118C>G (p.Ala2373Gly)
c.6746C>G (p.Ala2249Gly)
c.6902C>G (p.Ala2301Gly)
c.7109C>G (p.Ala2370Gly)
c.6410C>G (p.Ala2137Gly)
c.7157C>G (p.Ala2386Gly)
dbSNP
16g.3727884G=CA2202928382CREBBPc.7163C= (p.Ala2388=)
c.7049C= (p.Ala2350=)
c.7118C= (p.Ala2373=)
c.6746C= (p.Ala2249=)
c.6902C= (p.Ala2301=)
c.7109C= (p.Ala2370=)
c.6410C= (p.Ala2137=)
c.7157C= (p.Ala2386=)
16g.3727884G>TCA394550406CREBBPc.7163C>A (p.Ala2388Glu)
c.7049C>A (p.Ala2350Glu)
c.7118C>A (p.Ala2373Glu)
c.6746C>A (p.Ala2249Glu)
c.6902C>A (p.Ala2301Glu)
c.7109C>A (p.Ala2370Glu)
c.6410C>A (p.Ala2137Glu)
c.7157C>A (p.Ala2386Glu)
dbSNP
16g.3727885C>ACA394550407CREBBPc.7162G>T (p.Ala2388Ser)
c.7048G>T (p.Ala2350Ser)
c.7117G>T (p.Ala2373Ser)
c.6745G>T (p.Ala2249Ser)
c.6901G>T (p.Ala2301Ser)
c.7108G>T (p.Ala2370Ser)
c.6409G>T (p.Ala2137Ser)
c.7156G>T (p.Ala2386Ser)
dbSNP
16g.3727885C=CA2202928383CREBBPc.7162G= (p.Ala2388=)
c.7048G= (p.Ala2350=)
c.7117G= (p.Ala2373=)
c.6745G= (p.Ala2249=)
c.6901G= (p.Ala2301=)
c.7108G= (p.Ala2370=)
c.6409G= (p.Ala2137=)
c.7156G= (p.Ala2386=)
16g.3727885C>GCA394550408CREBBPc.7162G>C (p.Ala2388Pro)
c.7048G>C (p.Ala2350Pro)
c.7117G>C (p.Ala2373Pro)
c.6745G>C (p.Ala2249Pro)
c.6901G>C (p.Ala2301Pro)
c.7108G>C (p.Ala2370Pro)
c.6409G>C (p.Ala2137Pro)
c.7156G>C (p.Ala2386Pro)
dbSNP
16g.3727885C>TCA7868942CREBBPc.7162G>A (p.Ala2388Thr)
c.7048G>A (p.Ala2350Thr)
c.7117G>A (p.Ala2373Thr)
c.6745G>A (p.Ala2249Thr)
c.6901G>A (p.Ala2301Thr)
c.7108G>A (p.Ala2370Thr)
c.6409G>A (p.Ala2137Thr)
c.7156G>A (p.Ala2386Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727886G>ACA493393268CREBBPc.7161C>T (p.Leu2387=)
c.7047C>T (p.Leu2349=)
c.7116C>T (p.Leu2372=)
c.6744C>T (p.Leu2248=)
c.6900C>T (p.Leu2300=)
c.7107C>T (p.Leu2369=)
c.6408C>T (p.Leu2136=)
c.7155C>T (p.Leu2385=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3727886G>CCA493393270CREBBPc.7161C>G (p.Leu2387=)
c.7047C>G (p.Leu2349=)
c.7116C>G (p.Leu2372=)
c.6744C>G (p.Leu2248=)
c.6900C>G (p.Leu2300=)
c.7107C>G (p.Leu2369=)
c.6408C>G (p.Leu2136=)
c.7155C>G (p.Leu2385=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727886G=CA2202928384CREBBPc.7161C= (p.Leu2387=)
c.7047C= (p.Leu2349=)
c.7116C= (p.Leu2372=)
c.6744C= (p.Leu2248=)
c.6900C= (p.Leu2300=)
c.7107C= (p.Leu2369=)
c.6408C= (p.Leu2136=)
c.7155C= (p.Leu2385=)
16g.3727886G>TCA493393272CREBBPc.7161C>A (p.Leu2387=)
c.7047C>A (p.Leu2349=)
c.7116C>A (p.Leu2372=)
c.6744C>A (p.Leu2248=)
c.6900C>A (p.Leu2300=)
c.7107C>A (p.Leu2369=)
c.6408C>A (p.Leu2136=)
c.7155C>A (p.Leu2385=)
dbSNP
16g.3727887A=CA2202928385CREBBPc.7160T= (p.Leu2387=)
c.7046T= (p.Leu2349=)
c.7115T= (p.Leu2372=)
c.6743T= (p.Leu2248=)
c.6899T= (p.Leu2300=)
c.7106T= (p.Leu2369=)
c.6407T= (p.Leu2136=)
c.7154T= (p.Leu2385=)
16g.3727887A>CCA276971066CREBBPc.7160T>G (p.Leu2387Arg)
c.7046T>G (p.Leu2349Arg)
c.7115T>G (p.Leu2372Arg)
c.6743T>G (p.Leu2248Arg)
c.6899T>G (p.Leu2300Arg)
c.7106T>G (p.Leu2369Arg)
c.6407T>G (p.Leu2136Arg)
c.7154T>G (p.Leu2385Arg)
dbSNP
16g.3727887A>GCA394550409CREBBPc.7160T>C (p.Leu2387Pro)
c.7046T>C (p.Leu2349Pro)
c.7115T>C (p.Leu2372Pro)
c.6743T>C (p.Leu2248Pro)
c.6899T>C (p.Leu2300Pro)
c.7106T>C (p.Leu2369Pro)
c.6407T>C (p.Leu2136Pro)
c.7154T>C (p.Leu2385Pro)
dbSNP
16g.3727887A>TCA394550410CREBBPc.7160T>A (p.Leu2387His)
c.7046T>A (p.Leu2349His)
c.7115T>A (p.Leu2372His)
c.6743T>A (p.Leu2248His)
c.6899T>A (p.Leu2300His)
c.7106T>A (p.Leu2369His)
c.6407T>A (p.Leu2136His)
c.7154T>A (p.Leu2385His)
dbSNP
16g.3727888G>ACA394550411CREBBPc.7159C>T (p.Leu2387Phe)
c.7045C>T (p.Leu2349Phe)
c.7114C>T (p.Leu2372Phe)
c.6742C>T (p.Leu2248Phe)
c.6898C>T (p.Leu2300Phe)
c.7105C>T (p.Leu2369Phe)
c.6406C>T (p.Leu2136Phe)
c.7153C>T (p.Leu2385Phe)
dbSNP gnomAD v2 gnomAD v4
16g.3727888G>CCA394550412CREBBPc.7159C>G (p.Leu2387Val)
c.7045C>G (p.Leu2349Val)
c.7114C>G (p.Leu2372Val)
c.6742C>G (p.Leu2248Val)
c.6898C>G (p.Leu2300Val)
c.7105C>G (p.Leu2369Val)
c.6406C>G (p.Leu2136Val)
c.7153C>G (p.Leu2385Val)
dbSNP gnomAD v4
16g.3727888G=CA2202928386CREBBPc.7159C= (p.Leu2387=)
c.7045C= (p.Leu2349=)
c.7114C= (p.Leu2372=)
c.6742C= (p.Leu2248=)
c.6898C= (p.Leu2300=)
c.7105C= (p.Leu2369=)
c.6406C= (p.Leu2136=)
c.7153C= (p.Leu2385=)
16g.3727888G>TCA394550413CREBBPc.7159C>A (p.Leu2387Ile)
c.7045C>A (p.Leu2349Ile)
c.7114C>A (p.Leu2372Ile)
c.6742C>A (p.Leu2248Ile)
c.6898C>A (p.Leu2300Ile)
c.7105C>A (p.Leu2369Ile)
c.6406C>A (p.Leu2136Ile)
c.7153C>A (p.Leu2385Ile)
16g.3727889T>ACA493393275CREBBPc.7158A>T (p.Gly2386=)
c.7044A>T (p.Gly2348=)
c.7113A>T (p.Gly2371=)
c.6741A>T (p.Gly2247=)
c.6897A>T (p.Gly2299=)
c.7104A>T (p.Gly2368=)
c.6405A>T (p.Gly2135=)
c.7152A>T (p.Gly2384=)
dbSNP
16g.3727889T>CCA493393276CREBBPc.7158A>G (p.Gly2386=)
c.7044A>G (p.Gly2348=)
c.7113A>G (p.Gly2371=)
c.6741A>G (p.Gly2247=)
c.6897A>G (p.Gly2299=)
c.7104A>G (p.Gly2368=)
c.6405A>G (p.Gly2135=)
c.7152A>G (p.Gly2384=)
dbSNP
16g.3727889T>GCA493393277CREBBPc.7158A>C (p.Gly2386=)
c.7044A>C (p.Gly2348=)
c.7113A>C (p.Gly2371=)
c.6741A>C (p.Gly2247=)
c.6897A>C (p.Gly2299=)
c.7104A>C (p.Gly2368=)
c.6405A>C (p.Gly2135=)
c.7152A>C (p.Gly2384=)
dbSNP
16g.3727890C>ACA394550414CREBBPc.7157G>T (p.Gly2386Val)
c.7043G>T (p.Gly2348Val)
c.7112G>T (p.Gly2371Val)
c.6740G>T (p.Gly2247Val)
c.6896G>T (p.Gly2299Val)
c.7103G>T (p.Gly2368Val)
c.6404G>T (p.Gly2135Val)
c.7151G>T (p.Gly2384Val)
dbSNP
16g.3727890C=CA2202928387CREBBPc.7157G= (p.Gly2386=)
c.7043G= (p.Gly2348=)
c.7112G= (p.Gly2371=)
c.6740G= (p.Gly2247=)
c.6896G= (p.Gly2299=)
c.7103G= (p.Gly2368=)
c.6404G= (p.Gly2135=)
c.7151G= (p.Gly2384=)
16g.3727890C>GCA394550415CREBBPc.7157G>C (p.Gly2386Ala)
c.7043G>C (p.Gly2348Ala)
c.7112G>C (p.Gly2371Ala)
c.6740G>C (p.Gly2247Ala)
c.6896G>C (p.Gly2299Ala)
c.7103G>C (p.Gly2368Ala)
c.6404G>C (p.Gly2135Ala)
c.7151G>C (p.Gly2384Ala)
dbSNP
16g.3727890C>TCA394550416CREBBPc.7157G>A (p.Gly2386Glu)
c.7043G>A (p.Gly2348Glu)
c.7112G>A (p.Gly2371Glu)
c.6740G>A (p.Gly2247Glu)
c.6896G>A (p.Gly2299Glu)
c.7103G>A (p.Gly2368Glu)
c.6404G>A (p.Gly2135Glu)
c.7151G>A (p.Gly2384Glu)
dbSNP
16g.3727891C>ACA394550417CREBBPc.7156G>T (p.Gly2386Ter)
c.7042G>T (p.Gly2348Ter)
c.7111G>T (p.Gly2371Ter)
c.6739G>T (p.Gly2247Ter)
c.6895G>T (p.Gly2299Ter)
c.7102G>T (p.Gly2368Ter)
c.6403G>T (p.Gly2135Ter)
c.7150G>T (p.Gly2384Ter)
16g.3727891C=CA2202928388CREBBPc.7156G= (p.Gly2386=)
c.7042G= (p.Gly2348=)
c.7111G= (p.Gly2371=)
c.6739G= (p.Gly2247=)
c.6895G= (p.Gly2299=)
c.7102G= (p.Gly2368=)
c.6403G= (p.Gly2135=)
c.7150G= (p.Gly2384=)
16g.3727891C>GCA394550418CREBBPc.7156G>C (p.Gly2386Arg)
c.7042G>C (p.Gly2348Arg)
c.7111G>C (p.Gly2371Arg)
c.6739G>C (p.Gly2247Arg)
c.6895G>C (p.Gly2299Arg)
c.7102G>C (p.Gly2368Arg)
c.6403G>C (p.Gly2135Arg)
c.7150G>C (p.Gly2384Arg)
16g.3727891C>TCA394550419CREBBPc.7156G>A (p.Gly2386Arg)
c.7042G>A (p.Gly2348Arg)
c.7111G>A (p.Gly2371Arg)
c.6739G>A (p.Gly2247Arg)
c.6895G>A (p.Gly2299Arg)
c.7102G>A (p.Gly2368Arg)
c.6403G>A (p.Gly2135Arg)
c.7150G>A (p.Gly2384Arg)
ClinVar dbSNP gnomAD v4
16g.3727892G>ACA276971067CREBBPc.7155C>T (p.Pro2385=)
c.7041C>T (p.Pro2347=)
c.7110C>T (p.Pro2370=)
c.6738C>T (p.Pro2246=)
c.6894C>T (p.Pro2298=)
c.7101C>T (p.Pro2367=)
c.6402C>T (p.Pro2134=)
c.7149C>T (p.Pro2383=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727892G>CCA7868943CREBBPc.7155C>G (p.Pro2385=)
c.7041C>G (p.Pro2347=)
c.7110C>G (p.Pro2370=)
c.6738C>G (p.Pro2246=)
c.6894C>G (p.Pro2298=)
c.7101C>G (p.Pro2367=)
c.6402C>G (p.Pro2134=)
c.7149C>G (p.Pro2383=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727892G=CA2202928389CREBBPc.7155C= (p.Pro2385=)
c.7041C= (p.Pro2347=)
c.7110C= (p.Pro2370=)
c.6738C= (p.Pro2246=)
c.6894C= (p.Pro2298=)
c.7101C= (p.Pro2367=)
c.6402C= (p.Pro2134=)
c.7149C= (p.Pro2383=)
16g.3727892G>TCA493393281CREBBPc.7155C>A (p.Pro2385=)
c.7041C>A (p.Pro2347=)
c.7110C>A (p.Pro2370=)
c.6738C>A (p.Pro2246=)
c.6894C>A (p.Pro2298=)
c.7101C>A (p.Pro2367=)
c.6402C>A (p.Pro2134=)
c.7149C>A (p.Pro2383=)
dbSNP gnomAD v4
16g.3727892_3727893delinsTACA645575153CREBBPc.7154_7155delinsTA (p.Pro2385Leu)
c.7040_7041delinsTA (p.Pro2347Leu)
c.7109_7110delinsTA (p.Pro2370Leu)
c.6737_6738delinsTA (p.Pro2246Leu)
c.6893_6894delinsTA (p.Pro2298Leu)
c.7100_7101delinsTA (p.Pro2367Leu)
c.6401_6402delinsTA (p.Pro2134Leu)
c.7148_7149delinsTA (p.Pro2383Leu)
COSMIC
16g.3727898_3727917dupCA2631401257CREBBPc.7136_7155dup (p.Gly2386ArgfsTer17)
c.7022_7041dup (p.Gly2348ArgfsTer17)
c.7091_7110dup (p.Gly2371ArgfsTer17)
c.6719_6738dup (p.Gly2247ArgfsTer17)
c.6875_6894dup (p.Gly2299ArgfsTer17)
c.7082_7101dup (p.Gly2368ArgfsTer17)
c.6383_6402dup (p.Gly2135ArgfsTer17)
c.7130_7149dup (p.Gly2384ArgfsTer17)
gnomAD v4
16g.3727893G>ACA394550420CREBBPc.7154C>T (p.Pro2385Leu)
c.7040C>T (p.Pro2347Leu)
c.7109C>T (p.Pro2370Leu)
c.6737C>T (p.Pro2246Leu)
c.6893C>T (p.Pro2298Leu)
c.7100C>T (p.Pro2367Leu)
c.6401C>T (p.Pro2134Leu)
c.7148C>T (p.Pro2383Leu)
dbSNP
16g.3727893G>CCA7868944CREBBPc.7154C>G (p.Pro2385Arg)
c.7040C>G (p.Pro2347Arg)
c.7109C>G (p.Pro2370Arg)
c.6737C>G (p.Pro2246Arg)
c.6893C>G (p.Pro2298Arg)
c.7100C>G (p.Pro2367Arg)
c.6401C>G (p.Pro2134Arg)
c.7148C>G (p.Pro2383Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727893G=CA2202928390CREBBPc.7154C= (p.Pro2385=)
c.7040C= (p.Pro2347=)
c.7109C= (p.Pro2370=)
c.6737C= (p.Pro2246=)
c.6893C= (p.Pro2298=)
c.7100C= (p.Pro2367=)
c.6401C= (p.Pro2134=)
c.7148C= (p.Pro2383=)
16g.3727893G>TCA394550421CREBBPc.7154C>A (p.Pro2385His)
c.7040C>A (p.Pro2347His)
c.7109C>A (p.Pro2370His)
c.6737C>A (p.Pro2246His)
c.6893C>A (p.Pro2298His)
c.7100C>A (p.Pro2367His)
c.6401C>A (p.Pro2134His)
c.7148C>A (p.Pro2383His)
dbSNP
16g.3727894G>ACA394550422CREBBPc.7153C>T (p.Pro2385Ser)
c.7039C>T (p.Pro2347Ser)
c.7108C>T (p.Pro2370Ser)
c.6736C>T (p.Pro2246Ser)
c.6892C>T (p.Pro2298Ser)
c.7099C>T (p.Pro2367Ser)
c.6400C>T (p.Pro2134Ser)
c.7147C>T (p.Pro2383Ser)
dbSNP COSMIC
16g.3727894G>CCA394550423CREBBPc.7153C>G (p.Pro2385Ala)
c.7039C>G (p.Pro2347Ala)
c.7108C>G (p.Pro2370Ala)
c.6736C>G (p.Pro2246Ala)
c.6892C>G (p.Pro2298Ala)
c.7099C>G (p.Pro2367Ala)
c.6400C>G (p.Pro2134Ala)
c.7147C>G (p.Pro2383Ala)
dbSNP
16g.3727894G>TCA394550424CREBBPc.7153C>A (p.Pro2385Thr)
c.7039C>A (p.Pro2347Thr)
c.7108C>A (p.Pro2370Thr)
c.6736C>A (p.Pro2246Thr)
c.6892C>A (p.Pro2298Thr)
c.7099C>A (p.Pro2367Thr)
c.6400C>A (p.Pro2134Thr)
c.7147C>A (p.Pro2383Thr)
dbSNP
16g.3727895G>ACA493393282CREBBPc.7152C>T (p.His2384=)
c.7038C>T (p.His2346=)
c.7107C>T (p.His2369=)
c.6735C>T (p.His2245=)
c.6891C>T (p.His2297=)
c.7098C>T (p.His2366=)
c.6399C>T (p.His2133=)
c.7146C>T (p.His2382=)
dbSNP
16g.3727895G>CCA394550425CREBBPc.7152C>G (p.His2384Gln)
c.7038C>G (p.His2346Gln)
c.7107C>G (p.His2369Gln)
c.6735C>G (p.His2245Gln)
c.6891C>G (p.His2297Gln)
c.7098C>G (p.His2366Gln)
c.6399C>G (p.His2133Gln)
c.7146C>G (p.His2382Gln)
dbSNP
16g.3727895G=CA2202928391CREBBPc.7152C= (p.His2384=)
c.7038C= (p.His2346=)
c.7107C= (p.His2369=)
c.6735C= (p.His2245=)
c.6891C= (p.His2297=)
c.7098C= (p.His2366=)
c.6399C= (p.His2133=)
c.7146C= (p.His2382=)
16g.3727895G>TCA394550426CREBBPc.7152C>A (p.His2384Gln)
c.7038C>A (p.His2346Gln)
c.7107C>A (p.His2369Gln)
c.6735C>A (p.His2245Gln)
c.6891C>A (p.His2297Gln)
c.7098C>A (p.His2366Gln)
c.6399C>A (p.His2133Gln)
c.7146C>A (p.His2382Gln)
dbSNP COSMIC
16g.3727896T>ACA394550427CREBBPc.7151A>T (p.His2384Leu)
c.7037A>T (p.His2346Leu)
c.7106A>T (p.His2369Leu)
c.6734A>T (p.His2245Leu)
c.6890A>T (p.His2297Leu)
c.7097A>T (p.His2366Leu)
c.6398A>T (p.His2133Leu)
c.7145A>T (p.His2382Leu)
16g.3727896T>CCA394550429CREBBPc.7151A>G (p.His2384Arg)
c.7037A>G (p.His2346Arg)
c.7106A>G (p.His2369Arg)
c.6734A>G (p.His2245Arg)
c.6890A>G (p.His2297Arg)
c.7097A>G (p.His2366Arg)
c.6398A>G (p.His2133Arg)
c.7145A>G (p.His2382Arg)
16g.3727896T>GCA394550428CREBBPc.7151A>C (p.His2384Pro)
c.7037A>C (p.His2346Pro)
c.7106A>C (p.His2369Pro)
c.6734A>C (p.His2245Pro)
c.6890A>C (p.His2297Pro)
c.7097A>C (p.His2366Pro)
c.6398A>C (p.His2133Pro)
c.7145A>C (p.His2382Pro)
dbSNP
16g.3727896T=CA2202928392CREBBPc.7151A= (p.His2384=)
c.7037A= (p.His2346=)
c.7106A= (p.His2369=)
c.6734A= (p.His2245=)
c.6890A= (p.His2297=)
c.7097A= (p.His2366=)
c.6398A= (p.His2133=)
c.7145A= (p.His2382=)
16g.3727897G>ACA394550430CREBBPc.7150C>T (p.His2384Tyr)
c.7036C>T (p.His2346Tyr)
c.7105C>T (p.His2369Tyr)
c.6733C>T (p.His2245Tyr)
c.6889C>T (p.His2297Tyr)
c.7096C>T (p.His2366Tyr)
c.6397C>T (p.His2133Tyr)
c.7144C>T (p.His2382Tyr)
dbSNP
16g.3727897G>CCA394550431CREBBPc.7150C>G (p.His2384Asp)
c.7036C>G (p.His2346Asp)
c.7105C>G (p.His2369Asp)
c.6733C>G (p.His2245Asp)
c.6889C>G (p.His2297Asp)
c.7096C>G (p.His2366Asp)
c.6397C>G (p.His2133Asp)
c.7144C>G (p.His2382Asp)
gnomAD v4
16g.3727897G=CA2202928393CREBBPc.7150C= (p.His2384=)
c.7036C= (p.His2346=)
c.7105C= (p.His2369=)
c.6733C= (p.His2245=)
c.6889C= (p.His2297=)
c.7096C= (p.His2366=)
c.6397C= (p.His2133=)
c.7144C= (p.His2382=)
16g.3727897G>TCA394550432CREBBPc.7150C>A (p.His2384Asn)
c.7036C>A (p.His2346Asn)
c.7105C>A (p.His2369Asn)
c.6733C>A (p.His2245Asn)
c.6889C>A (p.His2297Asn)
c.7096C>A (p.His2366Asn)
c.6397C>A (p.His2133Asn)
c.7144C>A (p.His2382Asn)
gnomAD v4 COSMIC
16g.3727902delCA645575154CREBBPc.7150del (p.His2384ThrfsTer12)
c.7036del (p.His2346ThrfsTer12)
c.7105del (p.His2369ThrfsTer12)
c.6733del (p.His2245ThrfsTer12)
c.6889del (p.His2297ThrfsTer12)
c.7096del (p.His2366ThrfsTer12)
c.6397del (p.His2133ThrfsTer12)
c.7144del (p.His2382ThrfsTer12)
COSMIC
16g.3727898G>ACA493393284CREBBPc.7149C>T (p.Pro2383=)
c.7035C>T (p.Pro2345=)
c.7104C>T (p.Pro2368=)
c.6732C>T (p.Pro2244=)
c.6888C>T (p.Pro2296=)
c.7095C>T (p.Pro2365=)
c.6396C>T (p.Pro2132=)
c.7143C>T (p.Pro2381=)
dbSNP gnomAD v4 COSMIC
16g.3727898G>CCA276971077CREBBPc.7149C>G (p.Pro2383=)
c.7035C>G (p.Pro2345=)
c.7104C>G (p.Pro2368=)
c.6732C>G (p.Pro2244=)
c.6888C>G (p.Pro2296=)
c.7095C>G (p.Pro2365=)
c.6396C>G (p.Pro2132=)
c.7143C>G (p.Pro2381=)
dbSNP gnomAD v4
16g.3727898G=CA2202928394CREBBPc.7149C= (p.Pro2383=)
c.7035C= (p.Pro2345=)
c.7104C= (p.Pro2368=)
c.6732C= (p.Pro2244=)
c.6888C= (p.Pro2296=)
c.7095C= (p.Pro2365=)
c.6396C= (p.Pro2132=)
c.7143C= (p.Pro2381=)
16g.3727898G>TCA493393283CREBBPc.7149C>A (p.Pro2383=)
c.7035C>A (p.Pro2345=)
c.7104C>A (p.Pro2368=)
c.6732C>A (p.Pro2244=)
c.6888C>A (p.Pro2296=)
c.7095C>A (p.Pro2365=)
c.6396C>A (p.Pro2132=)
c.7143C>A (p.Pro2381=)
ClinVar dbSNP
16g.3727899G>ACA394550433CREBBPc.7148C>T (p.Pro2383Leu)
c.7034C>T (p.Pro2345Leu)
c.7103C>T (p.Pro2368Leu)
c.6731C>T (p.Pro2244Leu)
c.6887C>T (p.Pro2296Leu)
c.7094C>T (p.Pro2365Leu)
c.6395C>T (p.Pro2132Leu)
c.7142C>T (p.Pro2381Leu)
dbSNP
16g.3727899G>CCA394550435CREBBPc.7148C>G (p.Pro2383Arg)
c.7034C>G (p.Pro2345Arg)
c.7103C>G (p.Pro2368Arg)
c.6731C>G (p.Pro2244Arg)
c.6887C>G (p.Pro2296Arg)
c.7094C>G (p.Pro2365Arg)
c.6395C>G (p.Pro2132Arg)
c.7142C>G (p.Pro2381Arg)
dbSNP
16g.3727899G>TCA394550434CREBBPc.7148C>A (p.Pro2383His)
c.7034C>A (p.Pro2345His)
c.7103C>A (p.Pro2368His)
c.6731C>A (p.Pro2244His)
c.6887C>A (p.Pro2296His)
c.7094C>A (p.Pro2365His)
c.6395C>A (p.Pro2132His)
c.7142C>A (p.Pro2381His)
dbSNP
16g.3727900G>ACA394550436CREBBPc.7147C>T (p.Pro2383Ser)
c.7033C>T (p.Pro2345Ser)
c.7102C>T (p.Pro2368Ser)
c.6730C>T (p.Pro2244Ser)
c.6886C>T (p.Pro2296Ser)
c.7093C>T (p.Pro2365Ser)
c.6394C>T (p.Pro2132Ser)
c.7141C>T (p.Pro2381Ser)
dbSNP
16g.3727900G>CCA394550437CREBBPc.7147C>G (p.Pro2383Ala)
c.7033C>G (p.Pro2345Ala)
c.7102C>G (p.Pro2368Ala)
c.6730C>G (p.Pro2244Ala)
c.6886C>G (p.Pro2296Ala)
c.7093C>G (p.Pro2365Ala)
c.6394C>G (p.Pro2132Ala)
c.7141C>G (p.Pro2381Ala)
dbSNP
16g.3727900G>TCA394550438CREBBPc.7147C>A (p.Pro2383Thr)
c.7033C>A (p.Pro2345Thr)
c.7102C>A (p.Pro2368Thr)
c.6730C>A (p.Pro2244Thr)
c.6886C>A (p.Pro2296Thr)
c.7093C>A (p.Pro2365Thr)
c.6394C>A (p.Pro2132Thr)
c.7141C>A (p.Pro2381Thr)
dbSNP gnomAD v4
16g.3727901G>ACA493393288CREBBPc.7146C>T (p.Ser2382=)
c.7032C>T (p.Ser2344=)
c.7101C>T (p.Ser2367=)
c.6729C>T (p.Ser2243=)
c.6885C>T (p.Ser2295=)
c.7092C>T (p.Ser2364=)
c.6393C>T (p.Ser2131=)
c.7140C>T (p.Ser2380=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727901G>CCA493393287CREBBPc.7146C>G (p.Ser2382=)
c.7032C>G (p.Ser2344=)
c.7101C>G (p.Ser2367=)
c.6729C>G (p.Ser2243=)
c.6885C>G (p.Ser2295=)
c.7092C>G (p.Ser2364=)
c.6393C>G (p.Ser2131=)
c.7140C>G (p.Ser2380=)
16g.3727901G=CA2202928395CREBBPc.7146C= (p.Ser2382=)
c.7032C= (p.Ser2344=)
c.7101C= (p.Ser2367=)
c.6729C= (p.Ser2243=)
c.6885C= (p.Ser2295=)
c.7092C= (p.Ser2364=)
c.6393C= (p.Ser2131=)
c.7140C= (p.Ser2380=)
16g.3727901G>TCA493393286CREBBPc.7146C>A (p.Ser2382=)
c.7032C>A (p.Ser2344=)
c.7101C>A (p.Ser2367=)
c.6729C>A (p.Ser2243=)
c.6885C>A (p.Ser2295=)
c.7092C>A (p.Ser2364=)
c.6393C>A (p.Ser2131=)
c.7140C>A (p.Ser2380=)
dbSNP gnomAD v4
16g.3727902G>ACA394550439CREBBPc.7145C>T (p.Ser2382Phe)
c.7031C>T (p.Ser2344Phe)
c.7100C>T (p.Ser2367Phe)
c.6728C>T (p.Ser2243Phe)
c.6884C>T (p.Ser2295Phe)
c.7091C>T (p.Ser2364Phe)
c.6392C>T (p.Ser2131Phe)
c.7139C>T (p.Ser2380Phe)
dbSNP
16g.3727902G>CCA394550440CREBBPc.7145C>G (p.Ser2382Cys)
c.7031C>G (p.Ser2344Cys)
c.7100C>G (p.Ser2367Cys)
c.6728C>G (p.Ser2243Cys)
c.6884C>G (p.Ser2295Cys)
c.7091C>G (p.Ser2364Cys)
c.6392C>G (p.Ser2131Cys)
c.7139C>G (p.Ser2380Cys)
dbSNP
16g.3727902G=CA2202928396CREBBPc.7145C= (p.Ser2382=)
c.7031C= (p.Ser2344=)
c.7100C= (p.Ser2367=)
c.6728C= (p.Ser2243=)
c.6884C= (p.Ser2295=)
c.7091C= (p.Ser2364=)
c.6392C= (p.Ser2131=)
c.7139C= (p.Ser2380=)
16g.3727902G>TCA394550441CREBBPc.7145C>A (p.Ser2382Tyr)
c.7031C>A (p.Ser2344Tyr)
c.7100C>A (p.Ser2367Tyr)
c.6728C>A (p.Ser2243Tyr)
c.6884C>A (p.Ser2295Tyr)
c.7091C>A (p.Ser2364Tyr)
c.6392C>A (p.Ser2131Tyr)
c.7139C>A (p.Ser2380Tyr)
dbSNP
16g.3727903A>CCA394550442CREBBPc.7144T>G (p.Ser2382Ala)
c.7030T>G (p.Ser2344Ala)
c.7099T>G (p.Ser2367Ala)
c.6727T>G (p.Ser2243Ala)
c.6883T>G (p.Ser2295Ala)
c.7090T>G (p.Ser2364Ala)
c.6391T>G (p.Ser2131Ala)
c.7138T>G (p.Ser2380Ala)
16g.3727903A>GCA394550443CREBBPc.7144T>C (p.Ser2382Pro)
c.7030T>C (p.Ser2344Pro)
c.7099T>C (p.Ser2367Pro)
c.6727T>C (p.Ser2243Pro)
c.6883T>C (p.Ser2295Pro)
c.7090T>C (p.Ser2364Pro)
c.6391T>C (p.Ser2131Pro)
c.7138T>C (p.Ser2380Pro)
gnomAD v4
16g.3727903A>TCA394550444CREBBPc.7144T>A (p.Ser2382Thr)
c.7030T>A (p.Ser2344Thr)
c.7099T>A (p.Ser2367Thr)
c.6727T>A (p.Ser2243Thr)
c.6883T>A (p.Ser2295Thr)
c.7090T>A (p.Ser2364Thr)
c.6391T>A (p.Ser2131Thr)
c.7138T>A (p.Ser2380Thr)
16g.3727904A=CA2202928397CREBBPc.7143T= (p.Gly2381=)
c.7029T= (p.Gly2343=)
c.7098T= (p.Gly2366=)
c.6726T= (p.Gly2242=)
c.6882T= (p.Gly2294=)
c.7089T= (p.Gly2363=)
c.6390T= (p.Gly2130=)
c.7137T= (p.Gly2379=)
16g.3727904A>CCA493393292CREBBPc.7143T>G (p.Gly2381=)
c.7029T>G (p.Gly2343=)
c.7098T>G (p.Gly2366=)
c.6726T>G (p.Gly2242=)
c.6882T>G (p.Gly2294=)
c.7089T>G (p.Gly2363=)
c.6390T>G (p.Gly2130=)
c.7137T>G (p.Gly2379=)
dbSNP
16g.3727904A>GCA493393294CREBBPc.7143T>C (p.Gly2381=)
c.7029T>C (p.Gly2343=)
c.7098T>C (p.Gly2366=)
c.6726T>C (p.Gly2242=)
c.6882T>C (p.Gly2294=)
c.7089T>C (p.Gly2363=)
c.6390T>C (p.Gly2130=)
c.7137T>C (p.Gly2379=)
gnomAD v4
16g.3727904A>TCA493393293CREBBPc.7143T>A (p.Gly2381=)
c.7029T>A (p.Gly2343=)
c.7098T>A (p.Gly2366=)
c.6726T>A (p.Gly2242=)
c.6882T>A (p.Gly2294=)
c.7089T>A (p.Gly2363=)
c.6390T>A (p.Gly2130=)
c.7137T>A (p.Gly2379=)
16g.3727905C>ACA394550445CREBBPc.7142G>T (p.Gly2381Val)
c.7028G>T (p.Gly2343Val)
c.7097G>T (p.Gly2366Val)
c.6725G>T (p.Gly2242Val)
c.6881G>T (p.Gly2294Val)
c.7088G>T (p.Gly2363Val)
c.6389G>T (p.Gly2130Val)
c.7136G>T (p.Gly2379Val)
ClinVar dbSNP
16g.3727905C>GCA394550446CREBBPc.7142G>C (p.Gly2381Ala)
c.7028G>C (p.Gly2343Ala)
c.7097G>C (p.Gly2366Ala)
c.6725G>C (p.Gly2242Ala)
c.6881G>C (p.Gly2294Ala)
c.7088G>C (p.Gly2363Ala)
c.6389G>C (p.Gly2130Ala)
c.7136G>C (p.Gly2379Ala)
dbSNP gnomAD v4
16g.3727905C>TCA394550447CREBBPc.7142G>A (p.Gly2381Asp)
c.7028G>A (p.Gly2343Asp)
c.7097G>A (p.Gly2366Asp)
c.6725G>A (p.Gly2242Asp)
c.6881G>A (p.Gly2294Asp)
c.7088G>A (p.Gly2363Asp)
c.6389G>A (p.Gly2130Asp)
c.7136G>A (p.Gly2379Asp)
dbSNP
16g.3727906C>ACA394550448CREBBPc.7141G>T (p.Gly2381Cys)
c.7027G>T (p.Gly2343Cys)
c.7096G>T (p.Gly2366Cys)
c.6724G>T (p.Gly2242Cys)
c.6880G>T (p.Gly2294Cys)
c.7087G>T (p.Gly2363Cys)
c.6388G>T (p.Gly2130Cys)
c.7135G>T (p.Gly2379Cys)
dbSNP
16g.3727906C>GCA394550450CREBBPc.7141G>C (p.Gly2381Arg)
c.7027G>C (p.Gly2343Arg)
c.7096G>C (p.Gly2366Arg)
c.6724G>C (p.Gly2242Arg)
c.6880G>C (p.Gly2294Arg)
c.7087G>C (p.Gly2363Arg)
c.6388G>C (p.Gly2130Arg)
c.7135G>C (p.Gly2379Arg)
dbSNP
16g.3727906C>TCA394550449CREBBPc.7141G>A (p.Gly2381Ser)
c.7027G>A (p.Gly2343Ser)
c.7096G>A (p.Gly2366Ser)
c.6724G>A (p.Gly2242Ser)
c.6880G>A (p.Gly2294Ser)
c.7087G>A (p.Gly2363Ser)
c.6388G>A (p.Gly2130Ser)
c.7135G>A (p.Gly2379Ser)
dbSNP
16g.3727907A>CCA493393296CREBBPc.7140T>G (p.Thr2380=)
c.7026T>G (p.Thr2342=)
c.7095T>G (p.Thr2365=)
c.6723T>G (p.Thr2241=)
c.6879T>G (p.Thr2293=)
c.7086T>G (p.Thr2362=)
c.6387T>G (p.Thr2129=)
c.7134T>G (p.Thr2378=)
dbSNP
16g.3727907A>GCA493393297CREBBPc.7140T>C (p.Thr2380=)
c.7026T>C (p.Thr2342=)
c.7095T>C (p.Thr2365=)
c.6723T>C (p.Thr2241=)
c.6879T>C (p.Thr2293=)
c.7086T>C (p.Thr2362=)
c.6387T>C (p.Thr2129=)
c.7134T>C (p.Thr2378=)
dbSNP
16g.3727907A>TCA493393298CREBBPc.7140T>A (p.Thr2380=)
c.7026T>A (p.Thr2342=)
c.7095T>A (p.Thr2365=)
c.6723T>A (p.Thr2241=)
c.6879T>A (p.Thr2293=)
c.7086T>A (p.Thr2362=)
c.6387T>A (p.Thr2129=)
c.7134T>A (p.Thr2378=)
dbSNP
16g.3727908G>ACA394550451CREBBPc.7139C>T (p.Thr2380Ile)
c.7025C>T (p.Thr2342Ile)
c.7094C>T (p.Thr2365Ile)
c.6722C>T (p.Thr2241Ile)
c.6878C>T (p.Thr2293Ile)
c.7085C>T (p.Thr2362Ile)
c.6386C>T (p.Thr2129Ile)
c.7133C>T (p.Thr2378Ile)
dbSNP gnomAD v4
16g.3727908G>CCA394550452CREBBPc.7139C>G (p.Thr2380Ser)
c.7025C>G (p.Thr2342Ser)
c.7094C>G (p.Thr2365Ser)
c.6722C>G (p.Thr2241Ser)
c.6878C>G (p.Thr2293Ser)
c.7085C>G (p.Thr2362Ser)
c.6386C>G (p.Thr2129Ser)
c.7133C>G (p.Thr2378Ser)
dbSNP gnomAD v4
16g.3727908G>TCA394550453CREBBPc.7139C>A (p.Thr2380Asn)
c.7025C>A (p.Thr2342Asn)
c.7094C>A (p.Thr2365Asn)
c.6722C>A (p.Thr2241Asn)
c.6878C>A (p.Thr2293Asn)
c.7085C>A (p.Thr2362Asn)
c.6386C>A (p.Thr2129Asn)
c.7133C>A (p.Thr2378Asn)
dbSNP
16g.3727909T>ACA276971079CREBBPc.7138A>T (p.Thr2380Ser)
c.7024A>T (p.Thr2342Ser)
c.7093A>T (p.Thr2365Ser)
c.6721A>T (p.Thr2241Ser)
c.6877A>T (p.Thr2293Ser)
c.7084A>T (p.Thr2362Ser)
c.6385A>T (p.Thr2129Ser)
c.7132A>T (p.Thr2378Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727909T>CCA394550454CREBBPc.7138A>G (p.Thr2380Ala)
c.7024A>G (p.Thr2342Ala)
c.7093A>G (p.Thr2365Ala)
c.6721A>G (p.Thr2241Ala)
c.6877A>G (p.Thr2293Ala)
c.7084A>G (p.Thr2362Ala)
c.6385A>G (p.Thr2129Ala)
c.7132A>G (p.Thr2378Ala)
dbSNP
16g.3727909T>GCA394550455CREBBPc.7138A>C (p.Thr2380Pro)
c.7024A>C (p.Thr2342Pro)
c.7093A>C (p.Thr2365Pro)
c.6721A>C (p.Thr2241Pro)
c.6877A>C (p.Thr2293Pro)
c.7084A>C (p.Thr2362Pro)
c.6385A>C (p.Thr2129Pro)
c.7132A>C (p.Thr2378Pro)
dbSNP gnomAD v4
16g.3727909T=CA2202928398CREBBPc.7138A= (p.Thr2380=)
c.7024A= (p.Thr2342=)
c.7093A= (p.Thr2365=)
c.6721A= (p.Thr2241=)
c.6877A= (p.Thr2293=)
c.7084A= (p.Thr2362=)
c.6385A= (p.Thr2129=)
c.7132A= (p.Thr2378=)
16g.3727910C>ACA394550456CREBBPc.7137G>T (p.Gln2379His)
c.7023G>T (p.Gln2341His)
c.7092G>T (p.Gln2364His)
c.6720G>T (p.Gln2240His)
c.6876G>T (p.Gln2292His)
c.7083G>T (p.Gln2361His)
c.6384G>T (p.Gln2128His)
c.7131G>T (p.Gln2377His)
dbSNP gnomAD v4
16g.3727910C=CA2202928399CREBBPc.7137G= (p.Gln2379=)
c.7023G= (p.Gln2341=)
c.7092G= (p.Gln2364=)
c.6720G= (p.Gln2240=)
c.6876G= (p.Gln2292=)
c.7083G= (p.Gln2361=)
c.6384G= (p.Gln2128=)
c.7131G= (p.Gln2377=)
16g.3727910C>GCA394550457CREBBPc.7137G>C (p.Gln2379His)
c.7023G>C (p.Gln2341His)
c.7092G>C (p.Gln2364His)
c.6720G>C (p.Gln2240His)
c.6876G>C (p.Gln2292His)
c.7083G>C (p.Gln2361His)
c.6384G>C (p.Gln2128His)
c.7131G>C (p.Gln2377His)
dbSNP gnomAD v3 gnomAD v4
16g.3727910C>TCA493393301CREBBPc.7137G>A (p.Gln2379=)
c.7023G>A (p.Gln2341=)
c.7092G>A (p.Gln2364=)
c.6720G>A (p.Gln2240=)
c.6876G>A (p.Gln2292=)
c.7083G>A (p.Gln2361=)
c.6384G>A (p.Gln2128=)
c.7131G>A (p.Gln2377=)
dbSNP
16g.3727911T>ACA394550458CREBBPc.7136A>T (p.Gln2379Leu)
c.7022A>T (p.Gln2341Leu)
c.7091A>T (p.Gln2364Leu)
c.6719A>T (p.Gln2240Leu)
c.6875A>T (p.Gln2292Leu)
c.7082A>T (p.Gln2361Leu)
c.6383A>T (p.Gln2128Leu)
c.7130A>T (p.Gln2377Leu)
16g.3727911T>CCA7868945CREBBPc.7136A>G (p.Gln2379Arg)
c.7022A>G (p.Gln2341Arg)
c.7091A>G (p.Gln2364Arg)
c.6719A>G (p.Gln2240Arg)
c.6875A>G (p.Gln2292Arg)
c.7082A>G (p.Gln2361Arg)
c.6383A>G (p.Gln2128Arg)
c.7130A>G (p.Gln2377Arg)
dbSNP ExAC gnomAD v3 gnomAD v4
16g.3727911T>GCA394550459CREBBPc.7136A>C (p.Gln2379Pro)
c.7022A>C (p.Gln2341Pro)
c.7091A>C (p.Gln2364Pro)
c.6719A>C (p.Gln2240Pro)
c.6875A>C (p.Gln2292Pro)
c.7082A>C (p.Gln2361Pro)
c.6383A>C (p.Gln2128Pro)
c.7130A>C (p.Gln2377Pro)
ClinVar gnomAD v4
16g.3727911T=CA2202928400CREBBPc.7136A= (p.Gln2379=)
c.7022A= (p.Gln2341=)
c.7091A= (p.Gln2364=)
c.6719A= (p.Gln2240=)
c.6875A= (p.Gln2292=)
c.7082A= (p.Gln2361=)
c.6383A= (p.Gln2128=)
c.7130A= (p.Gln2377=)
16g.3727912G>ACA394550460CREBBPc.7135C>T (p.Gln2379Ter)
c.7021C>T (p.Gln2341Ter)
c.7090C>T (p.Gln2364Ter)
c.6718C>T (p.Gln2240Ter)
c.6874C>T (p.Gln2292Ter)
c.7081C>T (p.Gln2361Ter)
c.6382C>T (p.Gln2128Ter)
c.7129C>T (p.Gln2377Ter)
dbSNP
16g.3727912G>CCA394550461CREBBPc.7135C>G (p.Gln2379Glu)
c.7021C>G (p.Gln2341Glu)
c.7090C>G (p.Gln2364Glu)
c.6718C>G (p.Gln2240Glu)
c.6874C>G (p.Gln2292Glu)
c.7081C>G (p.Gln2361Glu)
c.6382C>G (p.Gln2128Glu)
c.7129C>G (p.Gln2377Glu)
dbSNP
16g.3727912G>TCA394550462CREBBPc.7135C>A (p.Gln2379Lys)
c.7021C>A (p.Gln2341Lys)
c.7090C>A (p.Gln2364Lys)
c.6718C>A (p.Gln2240Lys)
c.6874C>A (p.Gln2292Lys)
c.7081C>A (p.Gln2361Lys)
c.6382C>A (p.Gln2128Lys)
c.7129C>A (p.Gln2377Lys)
dbSNP
16g.3727913G>ACA493393303CREBBPc.7134C>T (p.Pro2378=)
c.7020C>T (p.Pro2340=)
c.7089C>T (p.Pro2363=)
c.6717C>T (p.Pro2239=)
c.6873C>T (p.Pro2291=)
c.7080C>T (p.Pro2360=)
c.6381C>T (p.Pro2127=)
c.7128C>T (p.Pro2376=)
16g.3727913G>CCA7868946CREBBPc.7134C>G (p.Pro2378=)
c.7020C>G (p.Pro2340=)
c.7089C>G (p.Pro2363=)
c.6717C>G (p.Pro2239=)
c.6873C>G (p.Pro2291=)
c.7080C>G (p.Pro2360=)
c.6381C>G (p.Pro2127=)
c.7128C>G (p.Pro2376=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727913G=CA2202928401CREBBPc.7134C= (p.Pro2378=)
c.7020C= (p.Pro2340=)
c.7089C= (p.Pro2363=)
c.6717C= (p.Pro2239=)
c.6873C= (p.Pro2291=)
c.7080C= (p.Pro2360=)
c.6381C= (p.Pro2127=)
c.7128C= (p.Pro2376=)
16g.3727913G>TCA493393304CREBBPc.7134C>A (p.Pro2378=)
c.7020C>A (p.Pro2340=)
c.7089C>A (p.Pro2363=)
c.6717C>A (p.Pro2239=)
c.6873C>A (p.Pro2291=)
c.7080C>A (p.Pro2360=)
c.6381C>A (p.Pro2127=)
c.7128C>A (p.Pro2376=)
16g.3727914G>ACA394550463CREBBPc.7133C>T (p.Pro2378Leu)
c.7019C>T (p.Pro2340Leu)
c.7088C>T (p.Pro2363Leu)
c.6716C>T (p.Pro2239Leu)
c.6872C>T (p.Pro2291Leu)
c.7079C>T (p.Pro2360Leu)
c.6380C>T (p.Pro2127Leu)
c.7127C>T (p.Pro2376Leu)
dbSNP gnomAD v2 gnomAD v4
16g.3727914G>CCA394550465CREBBPc.7133C>G (p.Pro2378Arg)
c.7019C>G (p.Pro2340Arg)
c.7088C>G (p.Pro2363Arg)
c.6716C>G (p.Pro2239Arg)
c.6872C>G (p.Pro2291Arg)
c.7079C>G (p.Pro2360Arg)
c.6380C>G (p.Pro2127Arg)
c.7127C>G (p.Pro2376Arg)
dbSNP
16g.3727914G=CA2202928402CREBBPc.7133C= (p.Pro2378=)
c.7019C= (p.Pro2340=)
c.7088C= (p.Pro2363=)
c.6716C= (p.Pro2239=)
c.6872C= (p.Pro2291=)
c.7079C= (p.Pro2360=)
c.6380C= (p.Pro2127=)
c.7127C= (p.Pro2376=)
16g.3727914G>TCA394550464CREBBPc.7133C>A (p.Pro2378His)
c.7019C>A (p.Pro2340His)
c.7088C>A (p.Pro2363His)
c.6716C>A (p.Pro2239His)
c.6872C>A (p.Pro2291His)
c.7079C>A (p.Pro2360His)
c.6380C>A (p.Pro2127His)
c.7127C>A (p.Pro2376His)
dbSNP gnomAD v4
16g.3727915G>ACA394550466CREBBPc.7132C>T (p.Pro2378Ser)
c.7018C>T (p.Pro2340Ser)
c.7087C>T (p.Pro2363Ser)
c.6715C>T (p.Pro2239Ser)
c.6871C>T (p.Pro2291Ser)
c.7078C>T (p.Pro2360Ser)
c.6379C>T (p.Pro2127Ser)
c.7126C>T (p.Pro2376Ser)
dbSNP
16g.3727915G>CCA394550467CREBBPc.7132C>G (p.Pro2378Ala)
c.7018C>G (p.Pro2340Ala)
c.7087C>G (p.Pro2363Ala)
c.6715C>G (p.Pro2239Ala)
c.6871C>G (p.Pro2291Ala)
c.7078C>G (p.Pro2360Ala)
c.6379C>G (p.Pro2127Ala)
c.7126C>G (p.Pro2376Ala)
dbSNP
16g.3727915G>TCA394550468CREBBPc.7132C>A (p.Pro2378Thr)
c.7018C>A (p.Pro2340Thr)
c.7087C>A (p.Pro2363Thr)
c.6715C>A (p.Pro2239Thr)
c.6871C>A (p.Pro2291Thr)
c.7078C>A (p.Pro2360Thr)
c.6379C>A (p.Pro2127Thr)
c.7126C>A (p.Pro2376Thr)
16g.3727916T>ACA493393306CREBBPc.7131A>T (p.Ser2377=)
c.7017A>T (p.Ser2339=)
c.7086A>T (p.Ser2362=)
c.6714A>T (p.Ser2238=)
c.6870A>T (p.Ser2290=)
c.7077A>T (p.Ser2359=)
c.6378A>T (p.Ser2126=)
c.7125A>T (p.Ser2375=)
dbSNP
16g.3727916T>CCA493393307CREBBPc.7131A>G (p.Ser2377=)
c.7017A>G (p.Ser2339=)
c.7086A>G (p.Ser2362=)
c.6714A>G (p.Ser2238=)
c.6870A>G (p.Ser2290=)
c.7077A>G (p.Ser2359=)
c.6378A>G (p.Ser2126=)
c.7125A>G (p.Ser2375=)
dbSNP gnomAD v4
16g.3727916T>GCA493393308CREBBPc.7131A>C (p.Ser2377=)
c.7017A>C (p.Ser2339=)
c.7086A>C (p.Ser2362=)
c.6714A>C (p.Ser2238=)
c.6870A>C (p.Ser2290=)
c.7077A>C (p.Ser2359=)
c.6378A>C (p.Ser2126=)
c.7125A>C (p.Ser2375=)
16g.3727916T=CA2202928403CREBBPc.7131A= (p.Ser2377=)
c.7017A= (p.Ser2339=)
c.7086A= (p.Ser2362=)
c.6714A= (p.Ser2238=)
c.6870A= (p.Ser2290=)
c.7077A= (p.Ser2359=)
c.6378A= (p.Ser2126=)
c.7125A= (p.Ser2375=)
16g.3727917G>ACA394550469CREBBPc.7130C>T (p.Ser2377Leu)
c.7016C>T (p.Ser2339Leu)
c.7085C>T (p.Ser2362Leu)
c.6713C>T (p.Ser2238Leu)
c.6869C>T (p.Ser2290Leu)
c.7076C>T (p.Ser2359Leu)
c.6377C>T (p.Ser2126Leu)
c.7124C>T (p.Ser2375Leu)
dbSNP COSMIC
16g.3727917G>CCA394550470CREBBPc.7130C>G (p.Ser2377Ter)
c.7016C>G (p.Ser2339Ter)
c.7085C>G (p.Ser2362Ter)
c.6713C>G (p.Ser2238Ter)
c.6869C>G (p.Ser2290Ter)
c.7076C>G (p.Ser2359Ter)
c.6377C>G (p.Ser2126Ter)
c.7124C>G (p.Ser2375Ter)
16g.3727917G>TCA394550471CREBBPc.7130C>A (p.Ser2377Ter)
c.7016C>A (p.Ser2339Ter)
c.7085C>A (p.Ser2362Ter)
c.6713C>A (p.Ser2238Ter)
c.6869C>A (p.Ser2290Ter)
c.7076C>A (p.Ser2359Ter)
c.6377C>A (p.Ser2126Ter)
c.7124C>A (p.Ser2375Ter)
dbSNP
16g.3727918A>CCA394550472CREBBPc.7129T>G (p.Ser2377Ala)
c.7015T>G (p.Ser2339Ala)
c.7084T>G (p.Ser2362Ala)
c.6712T>G (p.Ser2238Ala)
c.6868T>G (p.Ser2290Ala)
c.7075T>G (p.Ser2359Ala)
c.6376T>G (p.Ser2126Ala)
c.7123T>G (p.Ser2375Ala)
16g.3727918A>GCA394550473CREBBPc.7129T>C (p.Ser2377Pro)
c.7015T>C (p.Ser2339Pro)
c.7084T>C (p.Ser2362Pro)
c.6712T>C (p.Ser2238Pro)
c.6868T>C (p.Ser2290Pro)
c.7075T>C (p.Ser2359Pro)
c.6376T>C (p.Ser2126Pro)
c.7123T>C (p.Ser2375Pro)
dbSNP
16g.3727918A>TCA394550474CREBBPc.7129T>A (p.Ser2377Thr)
c.7015T>A (p.Ser2339Thr)
c.7084T>A (p.Ser2362Thr)
c.6712T>A (p.Ser2238Thr)
c.6868T>A (p.Ser2290Thr)
c.7075T>A (p.Ser2359Thr)
c.6376T>A (p.Ser2126Thr)
c.7123T>A (p.Ser2375Thr)
dbSNP
16g.3727919G>ACA493393310CREBBPc.7128C>T (p.Val2376=)
c.7014C>T (p.Val2338=)
c.7083C>T (p.Val2361=)
c.6711C>T (p.Val2237=)
c.6867C>T (p.Val2289=)
c.7074C>T (p.Val2358=)
c.6375C>T (p.Val2125=)
c.7122C>T (p.Val2374=)
dbSNP
16g.3727919G>CCA493393311CREBBPc.7128C>G (p.Val2376=)
c.7014C>G (p.Val2338=)
c.7083C>G (p.Val2361=)
c.6711C>G (p.Val2237=)
c.6867C>G (p.Val2289=)
c.7074C>G (p.Val2358=)
c.6375C>G (p.Val2125=)
c.7122C>G (p.Val2374=)
dbSNP gnomAD v4
16g.3727919G>TCA493393312CREBBPc.7128C>A (p.Val2376=)
c.7014C>A (p.Val2338=)
c.7083C>A (p.Val2361=)
c.6711C>A (p.Val2237=)
c.6867C>A (p.Val2289=)
c.7074C>A (p.Val2358=)
c.6375C>A (p.Val2125=)
c.7122C>A (p.Val2374=)
dbSNP
16g.3727920A>CCA394550475CREBBPc.7127T>G (p.Val2376Gly)
c.7013T>G (p.Val2338Gly)
c.7082T>G (p.Val2361Gly)
c.6710T>G (p.Val2237Gly)
c.6866T>G (p.Val2289Gly)
c.7073T>G (p.Val2358Gly)
c.6374T>G (p.Val2125Gly)
c.7121T>G (p.Val2374Gly)
16g.3727920A>GCA394550476CREBBPc.7127T>C (p.Val2376Ala)
c.7013T>C (p.Val2338Ala)
c.7082T>C (p.Val2361Ala)
c.6710T>C (p.Val2237Ala)
c.6866T>C (p.Val2289Ala)
c.7073T>C (p.Val2358Ala)
c.6374T>C (p.Val2125Ala)
c.7121T>C (p.Val2374Ala)
dbSNP
16g.3727920A>TCA394550477CREBBPc.7127T>A (p.Val2376Asp)
c.7013T>A (p.Val2338Asp)
c.7082T>A (p.Val2361Asp)
c.6710T>A (p.Val2237Asp)
c.6866T>A (p.Val2289Asp)
c.7073T>A (p.Val2358Asp)
c.6374T>A (p.Val2125Asp)
c.7121T>A (p.Val2374Asp)
dbSNP
16g.3727921C>ACA394550478CREBBPc.7126G>T (p.Val2376Phe)
c.7012G>T (p.Val2338Phe)
c.7081G>T (p.Val2361Phe)
c.6709G>T (p.Val2237Phe)
c.6865G>T (p.Val2289Phe)
c.7072G>T (p.Val2358Phe)
c.6373G>T (p.Val2125Phe)
c.7120G>T (p.Val2374Phe)
dbSNP
16g.3727921C=CA2202928404CREBBPc.7126G= (p.Val2376=)
c.7012G= (p.Val2338=)
c.7081G= (p.Val2361=)
c.6709G= (p.Val2237=)
c.6865G= (p.Val2289=)
c.7072G= (p.Val2358=)
c.6373G= (p.Val2125=)
c.7120G= (p.Val2374=)
16g.3727921C>GCA394550479CREBBPc.7126G>C (p.Val2376Leu)
c.7012G>C (p.Val2338Leu)
c.7081G>C (p.Val2361Leu)
c.6709G>C (p.Val2237Leu)
c.6865G>C (p.Val2289Leu)
c.7072G>C (p.Val2358Leu)
c.6373G>C (p.Val2125Leu)
c.7120G>C (p.Val2374Leu)
dbSNP
16g.3727921C>TCA276971085CREBBPc.7126G>A (p.Val2376Ile)
c.7012G>A (p.Val2338Ile)
c.7081G>A (p.Val2361Ile)
c.6709G>A (p.Val2237Ile)
c.6865G>A (p.Val2289Ile)
c.7072G>A (p.Val2358Ile)
c.6373G>A (p.Val2125Ile)
c.7120G>A (p.Val2374Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727922G>ACA7868947CREBBPc.7125C>T (p.His2375=)
c.7011C>T (p.His2337=)
c.7080C>T (p.His2360=)
c.6708C>T (p.His2236=)
c.6864C>T (p.His2288=)
c.7071C>T (p.His2357=)
c.6372C>T (p.His2124=)
c.7119C>T (p.His2373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727922G>CCA394550480CREBBPc.7125C>G (p.His2375Gln)
c.7011C>G (p.His2337Gln)
c.7080C>G (p.His2360Gln)
c.6708C>G (p.His2236Gln)
c.6864C>G (p.His2288Gln)
c.7071C>G (p.His2357Gln)
c.6372C>G (p.His2124Gln)
c.7119C>G (p.His2373Gln)
dbSNP
16g.3727922G=CA2202928405CREBBPc.7125C= (p.His2375=)
c.7011C= (p.His2337=)
c.7080C= (p.His2360=)
c.6708C= (p.His2236=)
c.6864C= (p.His2288=)
c.7071C= (p.His2357=)
c.6372C= (p.His2124=)
c.7119C= (p.His2373=)
16g.3727922G>TCA394550481CREBBPc.7125C>A (p.His2375Gln)
c.7011C>A (p.His2337Gln)
c.7080C>A (p.His2360Gln)
c.6708C>A (p.His2236Gln)
c.6864C>A (p.His2288Gln)
c.7071C>A (p.His2357Gln)
c.6372C>A (p.His2124Gln)
c.7119C>A (p.His2373Gln)
dbSNP
16g.3727923T>ACA394550482CREBBPc.7124A>T (p.His2375Leu)
c.7010A>T (p.His2337Leu)
c.7079A>T (p.His2360Leu)
c.6707A>T (p.His2236Leu)
c.6863A>T (p.His2288Leu)
c.7070A>T (p.His2357Leu)
c.6371A>T (p.His2124Leu)
c.7118A>T (p.His2373Leu)
16g.3727923T>CCA394550483CREBBPc.7124A>G (p.His2375Arg)
c.7010A>G (p.His2337Arg)
c.7079A>G (p.His2360Arg)
c.6707A>G (p.His2236Arg)
c.6863A>G (p.His2288Arg)
c.7070A>G (p.His2357Arg)
c.6371A>G (p.His2124Arg)
c.7118A>G (p.His2373Arg)
16g.3727923T>GCA394550484CREBBPc.7124A>C (p.His2375Pro)
c.7010A>C (p.His2337Pro)
c.7079A>C (p.His2360Pro)
c.6707A>C (p.His2236Pro)
c.6863A>C (p.His2288Pro)
c.7070A>C (p.His2357Pro)
c.6371A>C (p.His2124Pro)
c.7118A>C (p.His2373Pro)
16g.3727924G>ACA394550487CREBBPc.7123C>T (p.His2375Tyr)
c.7009C>T (p.His2337Tyr)
c.7078C>T (p.His2360Tyr)
c.6706C>T (p.His2236Tyr)
c.6862C>T (p.His2288Tyr)
c.7069C>T (p.His2357Tyr)
c.6370C>T (p.His2124Tyr)
c.7117C>T (p.His2373Tyr)
ClinVar gnomAD v4
16g.3727924G>CCA394550485CREBBPc.7123C>G (p.His2375Asp)
c.7009C>G (p.His2337Asp)
c.7078C>G (p.His2360Asp)
c.6706C>G (p.His2236Asp)
c.6862C>G (p.His2288Asp)
c.7069C>G (p.His2357Asp)
c.6370C>G (p.His2124Asp)
c.7117C>G (p.His2373Asp)
16g.3727924G>TCA394550486CREBBPc.7123C>A (p.His2375Asn)
c.7009C>A (p.His2337Asn)
c.7078C>A (p.His2360Asn)
c.6706C>A (p.His2236Asn)
c.6862C>A (p.His2288Asn)
c.7069C>A (p.His2357Asn)
c.6370C>A (p.His2124Asn)
c.7117C>A (p.His2373Asn)
16g.3727925G>ACA493393316CREBBPc.7122C>T (p.His2374=)
c.7008C>T (p.His2336=)
c.7077C>T (p.His2359=)
c.6705C>T (p.His2235=)
c.6861C>T (p.His2287=)
c.7068C>T (p.His2356=)
c.6369C>T (p.His2123=)
c.7116C>T (p.His2372=)
dbSNP
16g.3727925G>CCA394550488CREBBPc.7122C>G (p.His2374Gln)
c.7008C>G (p.His2336Gln)
c.7077C>G (p.His2359Gln)
c.6705C>G (p.His2235Gln)
c.6861C>G (p.His2287Gln)
c.7068C>G (p.His2356Gln)
c.6369C>G (p.His2123Gln)
c.7116C>G (p.His2372Gln)
dbSNP
16g.3727925G>TCA394550489CREBBPc.7122C>A (p.His2374Gln)
c.7008C>A (p.His2336Gln)
c.7077C>A (p.His2359Gln)
c.6705C>A (p.His2235Gln)
c.6861C>A (p.His2287Gln)
c.7068C>A (p.His2356Gln)
c.6369C>A (p.His2123Gln)
c.7116C>A (p.His2372Gln)
dbSNP
16g.3727926T>ACA394550490CREBBPc.7121A>T (p.His2374Leu)
c.7007A>T (p.His2336Leu)
c.7076A>T (p.His2359Leu)
c.6704A>T (p.His2235Leu)
c.6860A>T (p.His2287Leu)
c.7067A>T (p.His2356Leu)
c.6368A>T (p.His2123Leu)
c.7115A>T (p.His2372Leu)
dbSNP
16g.3727926T>CCA394550491CREBBPc.7121A>G (p.His2374Arg)
c.7007A>G (p.His2336Arg)
c.7076A>G (p.His2359Arg)
c.6704A>G (p.His2235Arg)
c.6860A>G (p.His2287Arg)
c.7067A>G (p.His2356Arg)
c.6368A>G (p.His2123Arg)
c.7115A>G (p.His2372Arg)
16g.3727926T>GCA394550492CREBBPc.7121A>C (p.His2374Pro)
c.7007A>C (p.His2336Pro)
c.7076A>C (p.His2359Pro)
c.6704A>C (p.His2235Pro)
c.6860A>C (p.His2287Pro)
c.7067A>C (p.His2356Pro)
c.6368A>C (p.His2123Pro)
c.7115A>C (p.His2372Pro)
dbSNP
16g.3727927G>ACA394550493CREBBPc.7120C>T (p.His2374Tyr)
c.7006C>T (p.His2336Tyr)
c.7075C>T (p.His2359Tyr)
c.6703C>T (p.His2235Tyr)
c.6859C>T (p.His2287Tyr)
c.7066C>T (p.His2356Tyr)
c.6367C>T (p.His2123Tyr)
c.7114C>T (p.His2372Tyr)
dbSNP gnomAD v4
16g.3727927G>CCA394550495CREBBPc.7120C>G (p.His2374Asp)
c.7006C>G (p.His2336Asp)
c.7075C>G (p.His2359Asp)
c.6703C>G (p.His2235Asp)
c.6859C>G (p.His2287Asp)
c.7066C>G (p.His2356Asp)
c.6367C>G (p.His2123Asp)
c.7114C>G (p.His2372Asp)
16g.3727927G>TCA394550494CREBBPc.7120C>A (p.His2374Asn)
c.7006C>A (p.His2336Asn)
c.7075C>A (p.His2359Asn)
c.6703C>A (p.His2235Asn)
c.6859C>A (p.His2287Asn)
c.7066C>A (p.His2356Asn)
c.6367C>A (p.His2123Asn)
c.7114C>A (p.His2372Asn)
dbSNP
16g.3727928T>ACA493393319CREBBPc.7119A>T (p.Pro2373=)
c.7005A>T (p.Pro2335=)
c.7074A>T (p.Pro2358=)
c.6702A>T (p.Pro2234=)
c.6858A>T (p.Pro2286=)
c.7065A>T (p.Pro2355=)
c.6366A>T (p.Pro2122=)
c.7113A>T (p.Pro2371=)
16g.3727928T>CCA493393320CREBBPc.7119A>G (p.Pro2373=)
c.7005A>G (p.Pro2335=)
c.7074A>G (p.Pro2358=)
c.6702A>G (p.Pro2234=)
c.6858A>G (p.Pro2286=)
c.7065A>G (p.Pro2355=)
c.6366A>G (p.Pro2122=)
c.7113A>G (p.Pro2371=)
dbSNP gnomAD v2 gnomAD v4
16g.3727928T>GCA493393321CREBBPc.7119A>C (p.Pro2373=)
c.7005A>C (p.Pro2335=)
c.7074A>C (p.Pro2358=)
c.6702A>C (p.Pro2234=)
c.6858A>C (p.Pro2286=)
c.7065A>C (p.Pro2355=)
c.6366A>C (p.Pro2122=)
c.7113A>C (p.Pro2371=)
16g.3727928T=CA2202928406CREBBPc.7119A= (p.Pro2373=)
c.7005A= (p.Pro2335=)
c.7074A= (p.Pro2358=)
c.6702A= (p.Pro2234=)
c.6858A= (p.Pro2286=)
c.7065A= (p.Pro2355=)
c.6366A= (p.Pro2122=)
c.7113A= (p.Pro2371=)
16g.3727929G>ACA394550496CREBBPc.7118C>T (p.Pro2373Leu)
c.7004C>T (p.Pro2335Leu)
c.7073C>T (p.Pro2358Leu)
c.6701C>T (p.Pro2234Leu)
c.6857C>T (p.Pro2286Leu)
c.7064C>T (p.Pro2355Leu)
c.6365C>T (p.Pro2122Leu)
c.7112C>T (p.Pro2371Leu)
ClinVar dbSNP
16g.3727929G>CCA394550497CREBBPc.7118C>G (p.Pro2373Arg)
c.7004C>G (p.Pro2335Arg)
c.7073C>G (p.Pro2358Arg)
c.6701C>G (p.Pro2234Arg)
c.6857C>G (p.Pro2286Arg)
c.7064C>G (p.Pro2355Arg)
c.6365C>G (p.Pro2122Arg)
c.7112C>G (p.Pro2371Arg)
16g.3727929G=CA2202928407CREBBPc.7118C= (p.Pro2373=)
c.7004C= (p.Pro2335=)
c.7073C= (p.Pro2358=)
c.6701C= (p.Pro2234=)
c.6857C= (p.Pro2286=)
c.7064C= (p.Pro2355=)
c.6365C= (p.Pro2122=)
c.7112C= (p.Pro2371=)
16g.3727929G>TCA394550498CREBBPc.7118C>A (p.Pro2373Gln)
c.7004C>A (p.Pro2335Gln)
c.7073C>A (p.Pro2358Gln)
c.6701C>A (p.Pro2234Gln)
c.6857C>A (p.Pro2286Gln)
c.7064C>A (p.Pro2355Gln)
c.6365C>A (p.Pro2122Gln)
c.7112C>A (p.Pro2371Gln)
16g.3727930_3727932delCA2631401294CREBBPc.7116_7118del (p.Pro2373del)
c.7002_7004del (p.Pro2335del)
c.7071_7073del (p.Pro2358del)
c.6699_6701del (p.Pro2234del)
c.6855_6857del (p.Pro2286del)
c.7062_7064del (p.Pro2355del)
c.6363_6365del (p.Pro2122del)
c.7110_7112del (p.Pro2371del)
gnomAD v4
16g.3727930G>ACA394550499CREBBPc.7117C>T (p.Pro2373Ser)
c.7003C>T (p.Pro2335Ser)
c.7072C>T (p.Pro2358Ser)
c.6700C>T (p.Pro2234Ser)
c.6856C>T (p.Pro2286Ser)
c.7063C>T (p.Pro2355Ser)
c.6364C>T (p.Pro2122Ser)
c.7111C>T (p.Pro2371Ser)
dbSNP gnomAD v4
16g.3727930G>CCA394550500CREBBPc.7117C>G (p.Pro2373Ala)
c.7003C>G (p.Pro2335Ala)
c.7072C>G (p.Pro2358Ala)
c.6700C>G (p.Pro2234Ala)
c.6856C>G (p.Pro2286Ala)
c.7063C>G (p.Pro2355Ala)
c.6364C>G (p.Pro2122Ala)
c.7111C>G (p.Pro2371Ala)
dbSNP
16g.3727930G>TCA394550501CREBBPc.7117C>A (p.Pro2373Thr)
c.7003C>A (p.Pro2335Thr)
c.7072C>A (p.Pro2358Thr)
c.6700C>A (p.Pro2234Thr)
c.6856C>A (p.Pro2286Thr)
c.7063C>A (p.Pro2355Thr)
c.6364C>A (p.Pro2122Thr)
c.7111C>A (p.Pro2371Thr)
dbSNP
16g.3727931C>ACA493393323CREBBPc.7116G>T (p.Ser2372=)
c.7002G>T (p.Ser2334=)
c.7071G>T (p.Ser2357=)
c.6699G>T (p.Ser2233=)
c.6855G>T (p.Ser2285=)
c.7062G>T (p.Ser2354=)
c.6363G>T (p.Ser2121=)
c.7110G>T (p.Ser2370=)
dbSNP gnomAD v4
16g.3727931C=CA2202928408CREBBPc.7116G= (p.Ser2372=)
c.7002G= (p.Ser2334=)
c.7071G= (p.Ser2357=)
c.6699G= (p.Ser2233=)
c.6855G= (p.Ser2285=)
c.7062G= (p.Ser2354=)
c.6363G= (p.Ser2121=)
c.7110G= (p.Ser2370=)
16g.3727931C>GCA493393324CREBBPc.7116G>C (p.Ser2372=)
c.7002G>C (p.Ser2334=)
c.7071G>C (p.Ser2357=)
c.6699G>C (p.Ser2233=)
c.6855G>C (p.Ser2285=)
c.7062G>C (p.Ser2354=)
c.6363G>C (p.Ser2121=)
c.7110G>C (p.Ser2370=)
dbSNP
16g.3727931C>TCA7868948CREBBPc.7116G>A (p.Ser2372=)
c.7002G>A (p.Ser2334=)
c.7071G>A (p.Ser2357=)
c.6699G>A (p.Ser2233=)
c.6855G>A (p.Ser2285=)
c.7062G>A (p.Ser2354=)
c.6363G>A (p.Ser2121=)
c.7110G>A (p.Ser2370=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727932G>ACA276971089CREBBPc.7115C>T (p.Ser2372Leu)
c.7001C>T (p.Ser2334Leu)
c.7070C>T (p.Ser2357Leu)
c.6698C>T (p.Ser2233Leu)
c.6854C>T (p.Ser2285Leu)
c.7061C>T (p.Ser2354Leu)
c.6362C>T (p.Ser2121Leu)
c.7109C>T (p.Ser2370Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3727932G>CCA394550502CREBBPc.7115C>G (p.Ser2372Trp)
c.7001C>G (p.Ser2334Trp)
c.7070C>G (p.Ser2357Trp)
c.6698C>G (p.Ser2233Trp)
c.6854C>G (p.Ser2285Trp)
c.7061C>G (p.Ser2354Trp)
c.6362C>G (p.Ser2121Trp)
c.7109C>G (p.Ser2370Trp)
dbSNP
16g.3727932G=CA2202928409CREBBPc.7115C= (p.Ser2372=)
c.7001C= (p.Ser2334=)
c.7070C= (p.Ser2357=)
c.6698C= (p.Ser2233=)
c.6854C= (p.Ser2285=)
c.7061C= (p.Ser2354=)
c.6362C= (p.Ser2121=)
c.7109C= (p.Ser2370=)
16g.3727932G>TCA394550503CREBBPc.7115C>A (p.Ser2372Ter)
c.7001C>A (p.Ser2334Ter)
c.7070C>A (p.Ser2357Ter)
c.6698C>A (p.Ser2233Ter)
c.6854C>A (p.Ser2285Ter)
c.7061C>A (p.Ser2354Ter)
c.6362C>A (p.Ser2121Ter)
c.7109C>A (p.Ser2370Ter)
dbSNP
16g.3727933A>CCA394550504CREBBPc.7114T>G (p.Ser2372Ala)
c.7000T>G (p.Ser2334Ala)
c.7069T>G (p.Ser2357Ala)
c.6697T>G (p.Ser2233Ala)
c.6853T>G (p.Ser2285Ala)
c.7060T>G (p.Ser2354Ala)
c.6361T>G (p.Ser2121Ala)
c.7108T>G (p.Ser2370Ala)
16g.3727933A>GCA394550506CREBBPc.7114T>C (p.Ser2372Pro)
c.7000T>C (p.Ser2334Pro)
c.7069T>C (p.Ser2357Pro)
c.6697T>C (p.Ser2233Pro)
c.6853T>C (p.Ser2285Pro)
c.7060T>C (p.Ser2354Pro)
c.6361T>C (p.Ser2121Pro)
c.7108T>C (p.Ser2370Pro)
dbSNP
16g.3727933A>TCA394550505CREBBPc.7114T>A (p.Ser2372Thr)
c.7000T>A (p.Ser2334Thr)
c.7069T>A (p.Ser2357Thr)
c.6697T>A (p.Ser2233Thr)
c.6853T>A (p.Ser2285Thr)
c.7060T>A (p.Ser2354Thr)
c.6361T>A (p.Ser2121Thr)
c.7108T>A (p.Ser2370Thr)
dbSNP
16g.3727934A>CCA493393326CREBBPc.7113T>G (p.Pro2371=)
c.6999T>G (p.Pro2333=)
c.7068T>G (p.Pro2356=)
c.6696T>G (p.Pro2232=)
c.6852T>G (p.Pro2284=)
c.7059T>G (p.Pro2353=)
c.6360T>G (p.Pro2120=)
c.7107T>G (p.Pro2369=)
16g.3727934A>GCA493393327CREBBPc.7113T>C (p.Pro2371=)
c.6999T>C (p.Pro2333=)
c.7068T>C (p.Pro2356=)
c.6696T>C (p.Pro2232=)
c.6852T>C (p.Pro2284=)
c.7059T>C (p.Pro2353=)
c.6360T>C (p.Pro2120=)
c.7107T>C (p.Pro2369=)
dbSNP gnomAD v4
16g.3727934A>TCA493393328CREBBPc.7113T>A (p.Pro2371=)
c.6999T>A (p.Pro2333=)
c.7068T>A (p.Pro2356=)
c.6696T>A (p.Pro2232=)
c.6852T>A (p.Pro2284=)
c.7059T>A (p.Pro2353=)
c.6360T>A (p.Pro2120=)
c.7107T>A (p.Pro2369=)
dbSNP
16g.3727935G>ACA394550507CREBBPc.7112C>T (p.Pro2371Leu)
c.6998C>T (p.Pro2333Leu)
c.7067C>T (p.Pro2356Leu)
c.6695C>T (p.Pro2232Leu)
c.6851C>T (p.Pro2284Leu)
c.7058C>T (p.Pro2353Leu)
c.6359C>T (p.Pro2120Leu)
c.7106C>T (p.Pro2369Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3727935G>CCA394550508CREBBPc.7112C>G (p.Pro2371Arg)
c.6998C>G (p.Pro2333Arg)
c.7067C>G (p.Pro2356Arg)
c.6695C>G (p.Pro2232Arg)
c.6851C>G (p.Pro2284Arg)
c.7058C>G (p.Pro2353Arg)
c.6359C>G (p.Pro2120Arg)
c.7106C>G (p.Pro2369Arg)
dbSNP
16g.3727935G=CA2202928410CREBBPc.7112C= (p.Pro2371=)
c.6998C= (p.Pro2333=)
c.7067C= (p.Pro2356=)
c.6695C= (p.Pro2232=)
c.6851C= (p.Pro2284=)
c.7058C= (p.Pro2353=)
c.6359C= (p.Pro2120=)
c.7106C= (p.Pro2369=)
16g.3727935G>TCA394550509CREBBPc.7112C>A (p.Pro2371His)
c.6998C>A (p.Pro2333His)
c.7067C>A (p.Pro2356His)
c.6695C>A (p.Pro2232His)
c.6851C>A (p.Pro2284His)
c.7058C>A (p.Pro2353His)
c.6359C>A (p.Pro2120His)
c.7106C>A (p.Pro2369His)
dbSNP
16g.3727936G>ACA394550510CREBBPc.7111C>T (p.Pro2371Ser)
c.6997C>T (p.Pro2333Ser)
c.7066C>T (p.Pro2356Ser)
c.6694C>T (p.Pro2232Ser)
c.6850C>T (p.Pro2284Ser)
c.7057C>T (p.Pro2353Ser)
c.6358C>T (p.Pro2120Ser)
c.7105C>T (p.Pro2369Ser)
dbSNP
16g.3727936G>CCA394550511CREBBPc.7111C>G (p.Pro2371Ala)
c.6997C>G (p.Pro2333Ala)
c.7066C>G (p.Pro2356Ala)
c.6694C>G (p.Pro2232Ala)
c.6850C>G (p.Pro2284Ala)
c.7057C>G (p.Pro2353Ala)
c.6358C>G (p.Pro2120Ala)
c.7105C>G (p.Pro2369Ala)
dbSNP gnomAD v4
16g.3727936G=CA2202928411CREBBPc.7111C= (p.Pro2371=)
c.6997C= (p.Pro2333=)
c.7066C= (p.Pro2356=)
c.6694C= (p.Pro2232=)
c.6850C= (p.Pro2284=)
c.7057C= (p.Pro2353=)
c.6358C= (p.Pro2120=)
c.7105C= (p.Pro2369=)
16g.3727936G>TCA394550512CREBBPc.7111C>A (p.Pro2371Thr)
c.6997C>A (p.Pro2333Thr)
c.7066C>A (p.Pro2356Thr)
c.6694C>A (p.Pro2232Thr)
c.6850C>A (p.Pro2284Thr)
c.7057C>A (p.Pro2353Thr)
c.6358C>A (p.Pro2120Thr)
c.7105C>A (p.Pro2369Thr)
ClinVar dbSNP gnomAD v4
16g.3727937C>ACA394550513CREBBPc.7110G>T (p.Gln2370His)
c.6996G>T (p.Gln2332His)
c.7065G>T (p.Gln2355His)
c.6693G>T (p.Gln2231His)
c.6849G>T (p.Gln2283His)
c.7056G>T (p.Gln2352His)
c.6357G>T (p.Gln2119His)
c.7104G>T (p.Gln2368His)
ClinVar dbSNP gnomAD v4
16g.3727937C>GCA394550514CREBBPc.7110G>C (p.Gln2370His)
c.6996G>C (p.Gln2332His)
c.7065G>C (p.Gln2355His)
c.6693G>C (p.Gln2231His)
c.6849G>C (p.Gln2283His)
c.7056G>C (p.Gln2352His)
c.6357G>C (p.Gln2119His)
c.7104G>C (p.Gln2368His)
dbSNP
16g.3727937C>TCA493393330CREBBPc.7110G>A (p.Gln2370=)
c.6996G>A (p.Gln2332=)
c.7065G>A (p.Gln2355=)
c.6693G>A (p.Gln2231=)
c.6849G>A (p.Gln2283=)
c.7056G>A (p.Gln2352=)
c.6357G>A (p.Gln2119=)
c.7104G>A (p.Gln2368=)
dbSNP gnomAD v4
16g.3727938T>ACA394550515CREBBPc.7109A>T (p.Gln2370Leu)
c.6995A>T (p.Gln2332Leu)
c.7064A>T (p.Gln2355Leu)
c.6692A>T (p.Gln2231Leu)
c.6848A>T (p.Gln2283Leu)
c.7055A>T (p.Gln2352Leu)
c.6356A>T (p.Gln2119Leu)
c.7103A>T (p.Gln2368Leu)
dbSNP
16g.3727938T>CCA394550517CREBBPc.7109A>G (p.Gln2370Arg)
c.6995A>G (p.Gln2332Arg)
c.7064A>G (p.Gln2355Arg)
c.6692A>G (p.Gln2231Arg)
c.6848A>G (p.Gln2283Arg)
c.7055A>G (p.Gln2352Arg)
c.6356A>G (p.Gln2119Arg)
c.7103A>G (p.Gln2368Arg)
dbSNP
16g.3727938T>GCA394550516CREBBPc.7109A>C (p.Gln2370Pro)
c.6995A>C (p.Gln2332Pro)
c.7064A>C (p.Gln2355Pro)
c.6692A>C (p.Gln2231Pro)
c.6848A>C (p.Gln2283Pro)
c.7055A>C (p.Gln2352Pro)
c.6356A>C (p.Gln2119Pro)
c.7103A>C (p.Gln2368Pro)
16g.3727939G>ACA394550518CREBBPc.7108C>T (p.Gln2370Ter)
c.6994C>T (p.Gln2332Ter)
c.7063C>T (p.Gln2355Ter)
c.6691C>T (p.Gln2231Ter)
c.6847C>T (p.Gln2283Ter)
c.7054C>T (p.Gln2352Ter)
c.6355C>T (p.Gln2119Ter)
c.7102C>T (p.Gln2368Ter)
dbSNP
16g.3727939G>CCA394550519CREBBPc.7108C>G (p.Gln2370Glu)
c.6994C>G (p.Gln2332Glu)
c.7063C>G (p.Gln2355Glu)
c.6691C>G (p.Gln2231Glu)
c.6847C>G (p.Gln2283Glu)
c.7054C>G (p.Gln2352Glu)
c.6355C>G (p.Gln2119Glu)
c.7102C>G (p.Gln2368Glu)
16g.3727939G>TCA394550520CREBBPc.7108C>A (p.Gln2370Lys)
c.6994C>A (p.Gln2332Lys)
c.7063C>A (p.Gln2355Lys)
c.6691C>A (p.Gln2231Lys)
c.6847C>A (p.Gln2283Lys)
c.7054C>A (p.Gln2352Lys)
c.6355C>A (p.Gln2119Lys)
c.7102C>A (p.Gln2368Lys)
dbSNP
16g.3727940G>ACA7868949CREBBPc.7107C>T (p.Pro2369=)
c.6993C>T (p.Pro2331=)
c.7062C>T (p.Pro2354=)
c.6690C>T (p.Pro2230=)
c.6846C>T (p.Pro2282=)
c.7053C>T (p.Pro2351=)
c.6354C>T (p.Pro2118=)
c.7101C>T (p.Pro2367=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727940G>CCA7868950CREBBPc.7107C>G (p.Pro2369=)
c.6993C>G (p.Pro2331=)
c.7062C>G (p.Pro2354=)
c.6690C>G (p.Pro2230=)
c.6846C>G (p.Pro2282=)
c.7053C>G (p.Pro2351=)
c.6354C>G (p.Pro2118=)
c.7101C>G (p.Pro2367=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727940G=CA2202928412CREBBPc.7107C= (p.Pro2369=)
c.6993C= (p.Pro2331=)
c.7062C= (p.Pro2354=)
c.6690C= (p.Pro2230=)
c.6846C= (p.Pro2282=)
c.7053C= (p.Pro2351=)
c.6354C= (p.Pro2118=)
c.7101C= (p.Pro2367=)
16g.3727940G>TCA493393332CREBBPc.7107C>A (p.Pro2369=)
c.6993C>A (p.Pro2331=)
c.7062C>A (p.Pro2354=)
c.6690C>A (p.Pro2230=)
c.6846C>A (p.Pro2282=)
c.7053C>A (p.Pro2351=)
c.6354C>A (p.Pro2118=)
c.7101C>A (p.Pro2367=)
dbSNP
16g.3727941G>ACA394550521CREBBPc.7106C>T (p.Pro2369Leu)
c.6992C>T (p.Pro2331Leu)
c.7061C>T (p.Pro2354Leu)
c.6689C>T (p.Pro2230Leu)
c.6845C>T (p.Pro2282Leu)
c.7052C>T (p.Pro2351Leu)
c.6353C>T (p.Pro2118Leu)
c.7100C>T (p.Pro2367Leu)
ClinVar dbSNP gnomAD v4
16g.3727941G>CCA394550523CREBBPc.7106C>G (p.Pro2369Arg)
c.6992C>G (p.Pro2331Arg)
c.7061C>G (p.Pro2354Arg)
c.6689C>G (p.Pro2230Arg)
c.6845C>G (p.Pro2282Arg)
c.7052C>G (p.Pro2351Arg)
c.6353C>G (p.Pro2118Arg)
c.7100C>G (p.Pro2367Arg)
dbSNP gnomAD v4
16g.3727941G=CA2202928413CREBBPc.7106C= (p.Pro2369=)
c.6992C= (p.Pro2331=)
c.7061C= (p.Pro2354=)
c.6689C= (p.Pro2230=)
c.6845C= (p.Pro2282=)
c.7052C= (p.Pro2351=)
c.6353C= (p.Pro2118=)
c.7100C= (p.Pro2367=)
16g.3727941G>TCA394550522CREBBPc.7106C>A (p.Pro2369His)
c.6992C>A (p.Pro2331His)
c.7061C>A (p.Pro2354His)
c.6689C>A (p.Pro2230His)
c.6845C>A (p.Pro2282His)
c.7052C>A (p.Pro2351His)
c.6353C>A (p.Pro2118His)
c.7100C>A (p.Pro2367His)
dbSNP
16g.3727942G>ACA276971099CREBBPc.7105C>T (p.Pro2369Ser)
c.6991C>T (p.Pro2331Ser)
c.7060C>T (p.Pro2354Ser)
c.6688C>T (p.Pro2230Ser)
c.6844C>T (p.Pro2282Ser)
c.7051C>T (p.Pro2351Ser)
c.6352C>T (p.Pro2118Ser)
c.7099C>T (p.Pro2367Ser)
dbSNP gnomAD v4
16g.3727942G>CCA394550524CREBBPc.7105C>G (p.Pro2369Ala)
c.6991C>G (p.Pro2331Ala)
c.7060C>G (p.Pro2354Ala)
c.6688C>G (p.Pro2230Ala)
c.6844C>G (p.Pro2282Ala)
c.7051C>G (p.Pro2351Ala)
c.6352C>G (p.Pro2118Ala)
c.7099C>G (p.Pro2367Ala)
dbSNP
16g.3727942G=CA2202928414CREBBPc.7105C= (p.Pro2369=)
c.6991C= (p.Pro2331=)
c.7060C= (p.Pro2354=)
c.6688C= (p.Pro2230=)
c.6844C= (p.Pro2282=)
c.7051C= (p.Pro2351=)
c.6352C= (p.Pro2118=)
c.7099C= (p.Pro2367=)
16g.3727942G>TCA394550525CREBBPc.7105C>A (p.Pro2369Thr)
c.6991C>A (p.Pro2331Thr)
c.7060C>A (p.Pro2354Thr)
c.6688C>A (p.Pro2230Thr)
c.6844C>A (p.Pro2282Thr)
c.7051C>A (p.Pro2351Thr)
c.6352C>A (p.Pro2118Thr)
c.7099C>A (p.Pro2367Thr)
ClinVar dbSNP COSMIC
16g.3727943C>ACA394550526CREBBPc.7104G>T (p.Gln2368His)
c.6990G>T (p.Gln2330His)
c.7059G>T (p.Gln2353His)
c.6687G>T (p.Gln2229His)
c.6843G>T (p.Gln2281His)
c.7050G>T (p.Gln2350His)
c.6351G>T (p.Gln2117His)
c.7098G>T (p.Gln2366His)
gnomAD v4
16g.3727943C=CA2202928415CREBBPc.7104G= (p.Gln2368=)
c.6990G= (p.Gln2330=)
c.7059G= (p.Gln2353=)
c.6687G= (p.Gln2229=)
c.6843G= (p.Gln2281=)
c.7050G= (p.Gln2350=)
c.6351G= (p.Gln2117=)
c.7098G= (p.Gln2366=)
16g.3727943C>GCA394550527CREBBPc.7104G>C (p.Gln2368His)
c.6990G>C (p.Gln2330His)
c.7059G>C (p.Gln2353His)
c.6687G>C (p.Gln2229His)
c.6843G>C (p.Gln2281His)
c.7050G>C (p.Gln2350His)
c.6351G>C (p.Gln2117His)
c.7098G>C (p.Gln2366His)
16g.3727943C>TCA493393334CREBBPc.7104G>A (p.Gln2368=)
c.6990G>A (p.Gln2330=)
c.7059G>A (p.Gln2353=)
c.6687G>A (p.Gln2229=)
c.6843G>A (p.Gln2281=)
c.7050G>A (p.Gln2350=)
c.6351G>A (p.Gln2117=)
c.7098G>A (p.Gln2366=)
dbSNP
16g.3727944T>ACA394550528CREBBPc.7103A>T (p.Gln2368Leu)
c.6989A>T (p.Gln2330Leu)
c.7058A>T (p.Gln2353Leu)
c.6686A>T (p.Gln2229Leu)
c.6842A>T (p.Gln2281Leu)
c.7049A>T (p.Gln2350Leu)
c.6350A>T (p.Gln2117Leu)
c.7097A>T (p.Gln2366Leu)
dbSNP
16g.3727944T>CCA394550529CREBBPc.7103A>G (p.Gln2368Arg)
c.6989A>G (p.Gln2330Arg)
c.7058A>G (p.Gln2353Arg)
c.6686A>G (p.Gln2229Arg)
c.6842A>G (p.Gln2281Arg)
c.7049A>G (p.Gln2350Arg)
c.6350A>G (p.Gln2117Arg)
c.7097A>G (p.Gln2366Arg)
dbSNP
16g.3727944T>GCA394550530CREBBPc.7103A>C (p.Gln2368Pro)
c.6989A>C (p.Gln2330Pro)
c.7058A>C (p.Gln2353Pro)
c.6686A>C (p.Gln2229Pro)
c.6842A>C (p.Gln2281Pro)
c.7049A>C (p.Gln2350Pro)
c.6350A>C (p.Gln2117Pro)
c.7097A>C (p.Gln2366Pro)
dbSNP
16g.3727945G>ACA394550531CREBBPc.7102C>T (p.Gln2368Ter)
c.6988C>T (p.Gln2330Ter)
c.7057C>T (p.Gln2353Ter)
c.6685C>T (p.Gln2229Ter)
c.6841C>T (p.Gln2281Ter)
c.7048C>T (p.Gln2350Ter)
c.6349C>T (p.Gln2117Ter)
c.7096C>T (p.Gln2366Ter)
dbSNP gnomAD v4
16g.3727945G>CCA394550532CREBBPc.7102C>G (p.Gln2368Glu)
c.6988C>G (p.Gln2330Glu)
c.7057C>G (p.Gln2353Glu)
c.6685C>G (p.Gln2229Glu)
c.6841C>G (p.Gln2281Glu)
c.7048C>G (p.Gln2350Glu)
c.6349C>G (p.Gln2117Glu)
c.7096C>G (p.Gln2366Glu)
dbSNP
16g.3727945G=CA2202928416CREBBPc.7102C= (p.Gln2368=)
c.6988C= (p.Gln2330=)
c.7057C= (p.Gln2353=)
c.6685C= (p.Gln2229=)
c.6841C= (p.Gln2281=)
c.7048C= (p.Gln2350=)
c.6349C= (p.Gln2117=)
c.7096C= (p.Gln2366=)
16g.3727945G>TCA7868951CREBBPc.7102C>A (p.Gln2368Lys)
c.6988C>A (p.Gln2330Lys)
c.7057C>A (p.Gln2353Lys)
c.6685C>A (p.Gln2229Lys)
c.6841C>A (p.Gln2281Lys)
c.7048C>A (p.Gln2350Lys)
c.6349C>A (p.Gln2117Lys)
c.7096C>A (p.Gln2366Lys)
dbSNP ExAC gnomAD v3 gnomAD v4
16g.3727945_3727949dupCA2580091105CREBBPc.7098_7102dup (p.Gln2368ArgfsTer30)
c.6984_6988dup (p.Gln2330ArgfsTer30)
c.7053_7057dup (p.Gln2353ArgfsTer30)
c.6681_6685dup (p.Gln2229ArgfsTer30)
c.6837_6841dup (p.Gln2281ArgfsTer30)
c.7044_7048dup (p.Gln2350ArgfsTer30)
c.6345_6349dup (p.Gln2117ArgfsTer30)
c.7092_7096dup (p.Gln2366ArgfsTer30)
ClinVar
16g.3727946T>ACA493393340CREBBPc.7101A>T (p.Ile2367=)
c.6987A>T (p.Ile2329=)
c.7056A>T (p.Ile2352=)
c.6684A>T (p.Ile2228=)
c.6840A>T (p.Ile2280=)
c.7047A>T (p.Ile2349=)
c.6348A>T (p.Ile2116=)
c.7095A>T (p.Ile2365=)
dbSNP
16g.3727946T>CCA7868952CREBBPc.7101A>G (p.Ile2367Met)
c.6987A>G (p.Ile2329Met)
c.7056A>G (p.Ile2352Met)
c.6684A>G (p.Ile2228Met)
c.6840A>G (p.Ile2280Met)
c.7047A>G (p.Ile2349Met)
c.6348A>G (p.Ile2116Met)
c.7095A>G (p.Ile2365Met)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727946T>GCA493393338CREBBPc.7101A>C (p.Ile2367=)
c.6987A>C (p.Ile2329=)
c.7056A>C (p.Ile2352=)
c.6684A>C (p.Ile2228=)
c.6840A>C (p.Ile2280=)
c.7047A>C (p.Ile2349=)
c.6348A>C (p.Ile2116=)
c.7095A>C (p.Ile2365=)
dbSNP
16g.3727946T=CA2202928417CREBBPc.7101A= (p.Ile2367=)
c.6987A= (p.Ile2329=)
c.7056A= (p.Ile2352=)
c.6684A= (p.Ile2228=)
c.6840A= (p.Ile2280=)
c.7047A= (p.Ile2349=)
c.6348A= (p.Ile2116=)
c.7095A= (p.Ile2365=)
16g.3727947A>CCA394550533CREBBPc.7100T>G (p.Ile2367Arg)
c.6986T>G (p.Ile2329Arg)
c.7055T>G (p.Ile2352Arg)
c.6683T>G (p.Ile2228Arg)
c.6839T>G (p.Ile2280Arg)
c.7046T>G (p.Ile2349Arg)
c.6347T>G (p.Ile2116Arg)
c.7094T>G (p.Ile2365Arg)
dbSNP
16g.3727947A>GCA394550535CREBBPc.7100T>C (p.Ile2367Thr)
c.6986T>C (p.Ile2329Thr)
c.7055T>C (p.Ile2352Thr)
c.6683T>C (p.Ile2228Thr)
c.6839T>C (p.Ile2280Thr)
c.7046T>C (p.Ile2349Thr)
c.6347T>C (p.Ile2116Thr)
c.7094T>C (p.Ile2365Thr)
16g.3727947A>TCA394550534CREBBPc.7100T>A (p.Ile2367Lys)
c.6986T>A (p.Ile2329Lys)
c.7055T>A (p.Ile2352Lys)
c.6683T>A (p.Ile2228Lys)
c.6839T>A (p.Ile2280Lys)
c.7046T>A (p.Ile2349Lys)
c.6347T>A (p.Ile2116Lys)
c.7094T>A (p.Ile2365Lys)
dbSNP
16g.3727948T>ACA394550536CREBBPc.7099A>T (p.Ile2367Leu)
c.6985A>T (p.Ile2329Leu)
c.7054A>T (p.Ile2352Leu)
c.6682A>T (p.Ile2228Leu)
c.6838A>T (p.Ile2280Leu)
c.7045A>T (p.Ile2349Leu)
c.6346A>T (p.Ile2116Leu)
c.7093A>T (p.Ile2365Leu)
dbSNP
16g.3727948T>CCA394550537CREBBPc.7099A>G (p.Ile2367Val)
c.6985A>G (p.Ile2329Val)
c.7054A>G (p.Ile2352Val)
c.6682A>G (p.Ile2228Val)
c.6838A>G (p.Ile2280Val)
c.7045A>G (p.Ile2349Val)
c.6346A>G (p.Ile2116Val)
c.7093A>G (p.Ile2365Val)
dbSNP
16g.3727948T>GCA394550538CREBBPc.7099A>C (p.Ile2367Leu)
c.6985A>C (p.Ile2329Leu)
c.7054A>C (p.Ile2352Leu)
c.6682A>C (p.Ile2228Leu)
c.6838A>C (p.Ile2280Leu)
c.7045A>C (p.Ile2349Leu)
c.6346A>C (p.Ile2116Leu)
c.7093A>C (p.Ile2365Leu)
dbSNP
16g.3727949C>ACA493393341CREBBPc.7098G>T (p.Arg2366=)
c.6984G>T (p.Arg2328=)
c.7053G>T (p.Arg2351=)
c.6681G>T (p.Arg2227=)
c.6837G>T (p.Arg2279=)
c.7044G>T (p.Arg2348=)
c.6345G>T (p.Arg2115=)
c.7092G>T (p.Arg2364=)
dbSNP gnomAD v4
16g.3727949C=CA2202928418CREBBPc.7098G= (p.Arg2366=)
c.6984G= (p.Arg2328=)
c.7053G= (p.Arg2351=)
c.6681G= (p.Arg2227=)
c.6837G= (p.Arg2279=)
c.7044G= (p.Arg2348=)
c.6345G= (p.Arg2115=)
c.7092G= (p.Arg2364=)
16g.3727949C>GCA171808CREBBPc.7098G>C (p.Arg2366=)
c.6984G>C (p.Arg2328=)
c.7053G>C (p.Arg2351=)
c.6681G>C (p.Arg2227=)
c.6837G>C (p.Arg2279=)
c.7044G>C (p.Arg2348=)
c.6345G>C (p.Arg2115=)
c.7092G>C (p.Arg2364=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727949C>TCA493393343CREBBPc.7098G>A (p.Arg2366=)
c.6984G>A (p.Arg2328=)
c.7053G>A (p.Arg2351=)
c.6681G>A (p.Arg2227=)
c.6837G>A (p.Arg2279=)
c.7044G>A (p.Arg2348=)
c.6345G>A (p.Arg2115=)
c.7092G>A (p.Arg2364=)
dbSNP COSMIC
16g.3727950C>ACA394550539CREBBPc.7097G>T (p.Arg2366Leu)
c.6983G>T (p.Arg2328Leu)
c.7052G>T (p.Arg2351Leu)
c.6680G>T (p.Arg2227Leu)
c.6836G>T (p.Arg2279Leu)
c.7043G>T (p.Arg2348Leu)
c.6344G>T (p.Arg2115Leu)
c.7091G>T (p.Arg2364Leu)
dbSNP
16g.3727950C=CA2202928419CREBBPc.7097G= (p.Arg2366=)
c.6983G= (p.Arg2328=)
c.7052G= (p.Arg2351=)
c.6680G= (p.Arg2227=)
c.6836G= (p.Arg2279=)
c.7043G= (p.Arg2348=)
c.6344G= (p.Arg2115=)
c.7091G= (p.Arg2364=)
16g.3727950C>GCA394550540CREBBPc.7097G>C (p.Arg2366Pro)
c.6983G>C (p.Arg2328Pro)
c.7052G>C (p.Arg2351Pro)
c.6680G>C (p.Arg2227Pro)
c.6836G>C (p.Arg2279Pro)
c.7043G>C (p.Arg2348Pro)
c.6344G>C (p.Arg2115Pro)
c.7091G>C (p.Arg2364Pro)
dbSNP
16g.3727950C>TCA394550541CREBBPc.7097G>A (p.Arg2366Gln)
c.6983G>A (p.Arg2328Gln)
c.7052G>A (p.Arg2351Gln)
c.6680G>A (p.Arg2227Gln)
c.6836G>A (p.Arg2279Gln)
c.7043G>A (p.Arg2348Gln)
c.6344G>A (p.Arg2115Gln)
c.7091G>A (p.Arg2364Gln)
dbSNP gnomAD v2 gnomAD v4
16g.3727951G>ACA394550542CREBBPc.7096C>T (p.Arg2366Trp)
c.6982C>T (p.Arg2328Trp)
c.7051C>T (p.Arg2351Trp)
c.6679C>T (p.Arg2227Trp)
c.6835C>T (p.Arg2279Trp)
c.7042C>T (p.Arg2348Trp)
c.6343C>T (p.Arg2115Trp)
c.7090C>T (p.Arg2364Trp)
dbSNP gnomAD v4
16g.3727951G>CCA394550543CREBBPc.7096C>G (p.Arg2366Gly)
c.6982C>G (p.Arg2328Gly)
c.7051C>G (p.Arg2351Gly)
c.6679C>G (p.Arg2227Gly)
c.6835C>G (p.Arg2279Gly)
c.7042C>G (p.Arg2348Gly)
c.6343C>G (p.Arg2115Gly)
c.7090C>G (p.Arg2364Gly)
dbSNP
16g.3727951G>TCA493393344CREBBPc.7096C>A (p.Arg2366=)
c.6982C>A (p.Arg2328=)
c.7051C>A (p.Arg2351=)
c.6679C>A (p.Arg2227=)
c.6835C>A (p.Arg2279=)
c.7042C>A (p.Arg2348=)
c.6343C>A (p.Arg2115=)
c.7090C>A (p.Arg2364=)
16g.3727952T>ACA493393346CREBBPc.7095A>T (p.Pro2365=)
c.6981A>T (p.Pro2327=)
c.7050A>T (p.Pro2350=)
c.6678A>T (p.Pro2226=)
c.6834A>T (p.Pro2278=)
c.7041A>T (p.Pro2347=)
c.6342A>T (p.Pro2114=)
c.7089A>T (p.Pro2363=)
16g.3727952T>CCA493393345CREBBPc.7095A>G (p.Pro2365=)
c.6981A>G (p.Pro2327=)
c.7050A>G (p.Pro2350=)
c.6678A>G (p.Pro2226=)
c.6834A>G (p.Pro2278=)
c.7041A>G (p.Pro2347=)
c.6342A>G (p.Pro2114=)
c.7089A>G (p.Pro2363=)
16g.3727952T>GCA493393347CREBBPc.7095A>C (p.Pro2365=)
c.6981A>C (p.Pro2327=)
c.7050A>C (p.Pro2350=)
c.6678A>C (p.Pro2226=)
c.6834A>C (p.Pro2278=)
c.7041A>C (p.Pro2347=)
c.6342A>C (p.Pro2114=)
c.7089A>C (p.Pro2363=)
16g.3727953G>ACA394550544CREBBPc.7094C>T (p.Pro2365Leu)
c.6980C>T (p.Pro2327Leu)
c.7049C>T (p.Pro2350Leu)
c.6677C>T (p.Pro2226Leu)
c.6833C>T (p.Pro2278Leu)
c.7040C>T (p.Pro2347Leu)
c.6341C>T (p.Pro2114Leu)
c.7088C>T (p.Pro2363Leu)
dbSNP
16g.3727953G>CCA394550545CREBBPc.7094C>G (p.Pro2365Arg)
c.6980C>G (p.Pro2327Arg)
c.7049C>G (p.Pro2350Arg)
c.6677C>G (p.Pro2226Arg)
c.6833C>G (p.Pro2278Arg)
c.7040C>G (p.Pro2347Arg)
c.6341C>G (p.Pro2114Arg)
c.7088C>G (p.Pro2363Arg)
dbSNP
16g.3727953G=CA2202928420CREBBPc.7094C= (p.Pro2365=)
c.6980C= (p.Pro2327=)
c.7049C= (p.Pro2350=)
c.6677C= (p.Pro2226=)
c.6833C= (p.Pro2278=)
c.7040C= (p.Pro2347=)
c.6341C= (p.Pro2114=)
c.7088C= (p.Pro2363=)
16g.3727953G>TCA394550546CREBBPc.7094C>A (p.Pro2365Gln)
c.6980C>A (p.Pro2327Gln)
c.7049C>A (p.Pro2350Gln)
c.6677C>A (p.Pro2226Gln)
c.6833C>A (p.Pro2278Gln)
c.7040C>A (p.Pro2347Gln)
c.6341C>A (p.Pro2114Gln)
c.7088C>A (p.Pro2363Gln)
16g.3727954delCA2731844847CREBBPc.7094del (p.Pro2365HisfsTer?)
c.6980del (p.Pro2327HisfsTer?)
c.7049del (p.Pro2350HisfsTer?)
c.6677del (p.Pro2226HisfsTer?)
c.6833del (p.Pro2278HisfsTer?)
c.7040del (p.Pro2347HisfsTer?)
c.6341del (p.Pro2114HisfsTer?)
c.7088del (p.Pro2363HisfsTer?)
dbSNP
16g.3727954G>ACA394550548CREBBPc.7093C>T (p.Pro2365Ser)
c.6979C>T (p.Pro2327Ser)
c.7048C>T (p.Pro2350Ser)
c.6676C>T (p.Pro2226Ser)
c.6832C>T (p.Pro2278Ser)
c.7039C>T (p.Pro2347Ser)
c.6340C>T (p.Pro2114Ser)
c.7087C>T (p.Pro2363Ser)
dbSNP gnomAD v4
16g.3727954G>CCA394550549CREBBPc.7093C>G (p.Pro2365Ala)
c.6979C>G (p.Pro2327Ala)
c.7048C>G (p.Pro2350Ala)
c.6676C>G (p.Pro2226Ala)
c.6832C>G (p.Pro2278Ala)
c.7039C>G (p.Pro2347Ala)
c.6340C>G (p.Pro2114Ala)
c.7087C>G (p.Pro2363Ala)
dbSNP
16g.3727954G>TCA394550547CREBBPc.7093C>A (p.Pro2365Thr)
c.6979C>A (p.Pro2327Thr)
c.7048C>A (p.Pro2350Thr)
c.6676C>A (p.Pro2226Thr)
c.6832C>A (p.Pro2278Thr)
c.7039C>A (p.Pro2347Thr)
c.6340C>A (p.Pro2114Thr)
c.7087C>A (p.Pro2363Thr)
dbSNP
16g.3727955T>ACA493393348CREBBPc.7092A>T (p.Ser2364=)
c.6978A>T (p.Ser2326=)
c.7047A>T (p.Ser2349=)
c.6675A>T (p.Ser2225=)
c.6831A>T (p.Ser2277=)
c.7038A>T (p.Ser2346=)
c.6339A>T (p.Ser2113=)
c.7086A>T (p.Ser2362=)
16g.3727955T>CCA493393349CREBBPc.7092A>G (p.Ser2364=)
c.6978A>G (p.Ser2326=)
c.7047A>G (p.Ser2349=)
c.6675A>G (p.Ser2225=)
c.6831A>G (p.Ser2277=)
c.7038A>G (p.Ser2346=)
c.6339A>G (p.Ser2113=)
c.7086A>G (p.Ser2362=)
gnomAD v4
16g.3727955T>GCA493393350CREBBPc.7092A>C (p.Ser2364=)
c.6978A>C (p.Ser2326=)
c.7047A>C (p.Ser2349=)
c.6675A>C (p.Ser2225=)
c.6831A>C (p.Ser2277=)
c.7038A>C (p.Ser2346=)
c.6339A>C (p.Ser2113=)
c.7086A>C (p.Ser2362=)
16g.3727956G>ACA394550550CREBBPc.7091C>T (p.Ser2364Leu)
c.6977C>T (p.Ser2326Leu)
c.7046C>T (p.Ser2349Leu)
c.6674C>T (p.Ser2225Leu)
c.6830C>T (p.Ser2277Leu)
c.7037C>T (p.Ser2346Leu)
c.6338C>T (p.Ser2113Leu)
c.7085C>T (p.Ser2362Leu)
dbSNP
16g.3727956G>CCA394550551CREBBPc.7091C>G (p.Ser2364Ter)
c.6977C>G (p.Ser2326Ter)
c.7046C>G (p.Ser2349Ter)
c.6674C>G (p.Ser2225Ter)
c.6830C>G (p.Ser2277Ter)
c.7037C>G (p.Ser2346Ter)
c.6338C>G (p.Ser2113Ter)
c.7085C>G (p.Ser2362Ter)
16g.3727956G>TCA394550552CREBBPc.7091C>A (p.Ser2364Ter)
c.6977C>A (p.Ser2326Ter)
c.7046C>A (p.Ser2349Ter)
c.6674C>A (p.Ser2225Ter)
c.6830C>A (p.Ser2277Ter)
c.7037C>A (p.Ser2346Ter)
c.6338C>A (p.Ser2113Ter)
c.7085C>A (p.Ser2362Ter)
dbSNP
16g.3727957A>CCA394550553CREBBPc.7090T>G (p.Ser2364Ala)
c.6976T>G (p.Ser2326Ala)
c.7045T>G (p.Ser2349Ala)
c.6673T>G (p.Ser2225Ala)
c.6829T>G (p.Ser2277Ala)
c.7036T>G (p.Ser2346Ala)
c.6337T>G (p.Ser2113Ala)
c.7084T>G (p.Ser2362Ala)
dbSNP
16g.3727957A>GCA394550554CREBBPc.7090T>C (p.Ser2364Pro)
c.6976T>C (p.Ser2326Pro)
c.7045T>C (p.Ser2349Pro)
c.6673T>C (p.Ser2225Pro)
c.6829T>C (p.Ser2277Pro)
c.7036T>C (p.Ser2346Pro)
c.6337T>C (p.Ser2113Pro)
c.7084T>C (p.Ser2362Pro)
dbSNP gnomAD v4
16g.3727957A>TCA394550555CREBBPc.7090T>A (p.Ser2364Thr)
c.6976T>A (p.Ser2326Thr)
c.7045T>A (p.Ser2349Thr)
c.6673T>A (p.Ser2225Thr)
c.6829T>A (p.Ser2277Thr)
c.7036T>A (p.Ser2346Thr)
c.6337T>A (p.Ser2113Thr)
c.7084T>A (p.Ser2362Thr)
dbSNP
16g.3727958C>ACA493393353CREBBPc.7089G>T (p.Pro2363=)
c.6975G>T (p.Pro2325=)
c.7044G>T (p.Pro2348=)
c.6672G>T (p.Pro2224=)
c.6828G>T (p.Pro2276=)
c.7035G>T (p.Pro2345=)
c.6336G>T (p.Pro2112=)
c.7083G>T (p.Pro2361=)
dbSNP
16g.3727958C=CA2202928421CREBBPc.7089G= (p.Pro2363=)
c.6975G= (p.Pro2325=)
c.7044G= (p.Pro2348=)
c.6672G= (p.Pro2224=)
c.6828G= (p.Pro2276=)
c.7035G= (p.Pro2345=)
c.6336G= (p.Pro2112=)
c.7083G= (p.Pro2361=)
16g.3727958C>GCA493393354CREBBPc.7089G>C (p.Pro2363=)
c.6975G>C (p.Pro2325=)
c.7044G>C (p.Pro2348=)
c.6672G>C (p.Pro2224=)
c.6828G>C (p.Pro2276=)
c.7035G>C (p.Pro2345=)
c.6336G>C (p.Pro2112=)
c.7083G>C (p.Pro2361=)
dbSNP
16g.3727958C>TCA7868953CREBBPc.7089G>A (p.Pro2363=)
c.6975G>A (p.Pro2325=)
c.7044G>A (p.Pro2348=)
c.6672G>A (p.Pro2224=)
c.6828G>A (p.Pro2276=)
c.7035G>A (p.Pro2345=)
c.6336G>A (p.Pro2112=)
c.7083G>A (p.Pro2361=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3727959G>ACA394550556CREBBPc.7088C>T (p.Pro2363Leu)
c.6974C>T (p.Pro2325Leu)
c.7043C>T (p.Pro2348Leu)
c.6671C>T (p.Pro2224Leu)
c.6827C>T (p.Pro2276Leu)
c.7034C>T (p.Pro2345Leu)
c.6335C>T (p.Pro2112Leu)
c.7082C>T (p.Pro2361Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3727959G>CCA394550557CREBBPc.7088C>G (p.Pro2363Arg)
c.6974C>G (p.Pro2325Arg)
c.7043C>G (p.Pro2348Arg)
c.6671C>G (p.Pro2224Arg)
c.6827C>G (p.Pro2276Arg)
c.7034C>G (p.Pro2345Arg)
c.6335C>G (p.Pro2112Arg)
c.7082C>G (p.Pro2361Arg)
dbSNP
16g.3727959G=CA2202928422CREBBPc.7088C= (p.Pro2363=)
c.6974C= (p.Pro2325=)
c.7043C= (p.Pro2348=)
c.6671C= (p.Pro2224=)
c.6827C= (p.Pro2276=)
c.7034C= (p.Pro2345=)
c.6335C= (p.Pro2112=)
c.7082C= (p.Pro2361=)
16g.3727959G>TCA394550558CREBBPc.7088C>A (p.Pro2363Gln)
c.6974C>A (p.Pro2325Gln)
c.7043C>A (p.Pro2348Gln)
c.6671C>A (p.Pro2224Gln)
c.6827C>A (p.Pro2276Gln)
c.7034C>A (p.Pro2345Gln)
c.6335C>A (p.Pro2112Gln)
c.7082C>A (p.Pro2361Gln)
dbSNP gnomAD v4
16g.3727960G>ACA394550559CREBBPc.7087C>T (p.Pro2363Ser)
c.6973C>T (p.Pro2325Ser)
c.7042C>T (p.Pro2348Ser)
c.6670C>T (p.Pro2224Ser)
c.6826C>T (p.Pro2276Ser)
c.7033C>T (p.Pro2345Ser)
c.6334C>T (p.Pro2112Ser)
c.7081C>T (p.Pro2361Ser)
dbSNP
16g.3727960G>CCA394550560CREBBPc.7087C>G (p.Pro2363Ala)
c.6973C>G (p.Pro2325Ala)
c.7042C>G (p.Pro2348Ala)
c.6670C>G (p.Pro2224Ala)
c.6826C>G (p.Pro2276Ala)
c.7033C>G (p.Pro2345Ala)
c.6334C>G (p.Pro2112Ala)
c.7081C>G (p.Pro2361Ala)
dbSNP
16g.3727960G>TCA394550561CREBBPc.7087C>A (p.Pro2363Thr)
c.6973C>A (p.Pro2325Thr)
c.7042C>A (p.Pro2348Thr)
c.6670C>A (p.Pro2224Thr)
c.6826C>A (p.Pro2276Thr)
c.7033C>A (p.Pro2345Thr)
c.6334C>A (p.Pro2112Thr)
c.7081C>A (p.Pro2361Thr)
dbSNP
16g.3727961G>ACA7868954CREBBPc.7086C>T (p.Ser2362=)
c.6972C>T (p.Ser2324=)
c.7041C>T (p.Ser2347=)
c.6669C>T (p.Ser2223=)
c.6825C>T (p.Ser2275=)
c.7032C>T (p.Ser2344=)
c.6333C>T (p.Ser2111=)
c.7080C>T (p.Ser2360=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3727961G>CCA394550563CREBBPc.7086C>G (p.Ser2362Arg)
c.6972C>G (p.Ser2324Arg)
c.7041C>G (p.Ser2347Arg)
c.6669C>G (p.Ser2223Arg)
c.6825C>G (p.Ser2275Arg)
c.7032C>G (p.Ser2344Arg)
c.6333C>G (p.Ser2111Arg)
c.7080C>G (p.Ser2360Arg)
dbSNP
16g.3727961G=CA2202928423CREBBPc.7086C= (p.Ser2362=)
c.6972C= (p.Ser2324=)
c.7041C= (p.Ser2347=)
c.6669C= (p.Ser2223=)
c.6825C= (p.Ser2275=)
c.7032C= (p.Ser2344=)
c.6333C= (p.Ser2111=)
c.7080C= (p.Ser2360=)
16g.3727961G>TCA394550562CREBBPc.7086C>A (p.Ser2362Arg)
c.6972C>A (p.Ser2324Arg)
c.7041C>A (p.Ser2347Arg)
c.6669C>A (p.Ser2223Arg)
c.6825C>A (p.Ser2275Arg)
c.7032C>A (p.Ser2344Arg)
c.6333C>A (p.Ser2111Arg)
c.7080C>A (p.Ser2360Arg)
dbSNP
16g.3727962C>ACA394550564CREBBPc.7085G>T (p.Ser2362Ile)
c.6971G>T (p.Ser2324Ile)
c.7040G>T (p.Ser2347Ile)
c.6668G>T (p.Ser2223Ile)
c.6824G>T (p.Ser2275Ile)
c.7031G>T (p.Ser2344Ile)
c.6332G>T (p.Ser2111Ile)
c.7079G>T (p.Ser2360Ile)
16g.3727962C>GCA394550565CREBBPc.7085G>C (p.Ser2362Thr)
c.6971G>C (p.Ser2324Thr)
c.7040G>C (p.Ser2347Thr)
c.6668G>C (p.Ser2223Thr)
c.6824G>C (p.Ser2275Thr)
c.7031G>C (p.Ser2344Thr)
c.6332G>C (p.Ser2111Thr)
c.7079G>C (p.Ser2360Thr)
16g.3727962C>TCA394550566CREBBPc.7085G>A (p.Ser2362Asn)
c.6971G>A (p.Ser2324Asn)
c.7040G>A (p.Ser2347Asn)
c.6668G>A (p.Ser2223Asn)
c.6824G>A (p.Ser2275Asn)
c.7031G>A (p.Ser2344Asn)
c.6332G>A (p.Ser2111Asn)
c.7079G>A (p.Ser2360Asn)
gnomAD v4
16g.3727963T>ACA394550567CREBBPc.7084A>T (p.Ser2362Cys)
c.6970A>T (p.Ser2324Cys)
c.7039A>T (p.Ser2347Cys)
c.6667A>T (p.Ser2223Cys)
c.6823A>T (p.Ser2275Cys)
c.7030A>T (p.Ser2344Cys)
c.6331A>T (p.Ser2111Cys)
c.7078A>T (p.Ser2360Cys)
16g.3727963T>CCA394550568CREBBPc.7084A>G (p.Ser2362Gly)
c.6970A>G (p.Ser2324Gly)
c.7039A>G (p.Ser2347Gly)
c.6667A>G (p.Ser2223Gly)
c.6823A>G (p.Ser2275Gly)
c.7030A>G (p.Ser2344Gly)
c.6331A>G (p.Ser2111Gly)
c.7078A>G (p.Ser2360Gly)
gnomAD v4
16g.3727963T>GCA394550569CREBBPc.7084A>C (p.Ser2362Arg)
c.6970A>C (p.Ser2324Arg)
c.7039A>C (p.Ser2347Arg)
c.6667A>C (p.Ser2223Arg)
c.6823A>C (p.Ser2275Arg)
c.7030A>C (p.Ser2344Arg)
c.6331A>C (p.Ser2111Arg)
c.7078A>C (p.Ser2360Arg)
16g.3727964G>ACA493393358CREBBPc.7083C>T (p.Ser2361=)
c.6969C>T (p.Ser2323=)
c.7038C>T (p.Ser2346=)
c.6666C>T (p.Ser2222=)
c.6822C>T (p.Ser2274=)
c.7029C>T (p.Ser2343=)
c.6330C>T (p.Ser2110=)
c.7077C>T (p.Ser2359=)
16g.3727964G>CCA493393359CREBBPc.7083C>G (p.Ser2361=)
c.6969C>G (p.Ser2323=)
c.7038C>G (p.Ser2346=)
c.6666C>G (p.Ser2222=)
c.6822C>G (p.Ser2274=)
c.7029C>G (p.Ser2343=)
c.6330C>G (p.Ser2110=)
c.7077C>G (p.Ser2359=)
16g.3727964G>TCA493393361CREBBPc.7083C>A (p.Ser2361=)
c.6969C>A (p.Ser2323=)
c.7038C>A (p.Ser2346=)
c.6666C>A (p.Ser2222=)
c.6822C>A (p.Ser2274=)
c.7029C>A (p.Ser2343=)
c.6330C>A (p.Ser2110=)
c.7077C>A (p.Ser2359=)
16g.3727965G>ACA394550572CREBBPc.7082C>T (p.Ser2361Phe)
c.6968C>T (p.Ser2323Phe)
c.7037C>T (p.Ser2346Phe)
c.6665C>T (p.Ser2222Phe)
c.6821C>T (p.Ser2274Phe)
c.7028C>T (p.Ser2343Phe)
c.6329C>T (p.Ser2110Phe)
c.7076C>T (p.Ser2359Phe)
dbSNP COSMIC
16g.3727965G>CCA394550570CREBBPc.7082C>G (p.Ser2361Cys)
c.6968C>G (p.Ser2323Cys)
c.7037C>G (p.Ser2346Cys)
c.6665C>G (p.Ser2222Cys)
c.6821C>G (p.Ser2274Cys)
c.7028C>G (p.Ser2343Cys)
c.6329C>G (p.Ser2110Cys)
c.7076C>G (p.Ser2359Cys)
ClinVar dbSNP
16g.3727965G>TCA394550571CREBBPc.7082C>A (p.Ser2361Tyr)
c.6968C>A (p.Ser2323Tyr)
c.7037C>A (p.Ser2346Tyr)
c.6665C>A (p.Ser2222Tyr)
c.6821C>A (p.Ser2274Tyr)
c.7028C>A (p.Ser2343Tyr)
c.6329C>A (p.Ser2110Tyr)
c.7076C>A (p.Ser2359Tyr)
dbSNP
16g.3727966A>CCA394550573CREBBPc.7081T>G (p.Ser2361Ala)
c.6967T>G (p.Ser2323Ala)
c.7036T>G (p.Ser2346Ala)
c.6664T>G (p.Ser2222Ala)
c.6820T>G (p.Ser2274Ala)
c.7027T>G (p.Ser2343Ala)
c.6328T>G (p.Ser2110Ala)
c.7075T>G (p.Ser2359Ala)
16g.3727966A>GCA394550574CREBBPc.7081T>C (p.Ser2361Pro)
c.6967T>C (p.Ser2323Pro)
c.7036T>C (p.Ser2346Pro)
c.6664T>C (p.Ser2222Pro)
c.6820T>C (p.Ser2274Pro)
c.7027T>C (p.Ser2343Pro)
c.6328T>C (p.Ser2110Pro)
c.7075T>C (p.Ser2359Pro)
dbSNP
16g.3727966A>TCA394550575CREBBPc.7081T>A (p.Ser2361Thr)
c.6967T>A (p.Ser2323Thr)
c.7036T>A (p.Ser2346Thr)
c.6664T>A (p.Ser2222Thr)
c.6820T>A (p.Ser2274Thr)
c.7027T>A (p.Ser2343Thr)
c.6328T>A (p.Ser2110Thr)
c.7075T>A (p.Ser2359Thr)
16g.3727967A=CA2202928424CREBBPc.7080T= (p.His2360=)
c.6966T= (p.His2322=)
c.7035T= (p.His2345=)
c.6663T= (p.His2221=)
c.6819T= (p.His2273=)
c.7026T= (p.His2342=)
c.6327T= (p.His2109=)
c.7074T= (p.His2358=)
16g.3727967A>CCA394550576CREBBPc.7080T>G (p.His2360Gln)
c.6966T>G (p.His2322Gln)
c.7035T>G (p.His2345Gln)
c.6663T>G (p.His2221Gln)
c.6819T>G (p.His2273Gln)
c.7026T>G (p.His2342Gln)
c.6327T>G (p.His2109Gln)
c.7074T>G (p.His2358Gln)
16g.3727967A>GCA493393364CREBBPc.7080T>C (p.His2360=)
c.6966T>C (p.His2322=)
c.7035T>C (p.His2345=)
c.6663T>C (p.His2221=)
c.6819T>C (p.His2273=)
c.7026T>C (p.His2342=)
c.6327T>C (p.His2109=)
c.7074T>C (p.His2358=)
dbSNP gnomAD v4
16g.3727967A>TCA394550577CREBBPc.7080T>A (p.His2360Gln)
c.6966T>A (p.His2322Gln)
c.7035T>A (p.His2345Gln)
c.6663T>A (p.His2221Gln)
c.6819T>A (p.His2273Gln)
c.7026T>A (p.His2342Gln)
c.6327T>A (p.His2109Gln)
c.7074T>A (p.His2358Gln)
dbSNP
16g.3727968T>ACA394550580CREBBPc.7079A>T (p.His2360Leu)
c.6965A>T (p.His2322Leu)
c.7034A>T (p.His2345Leu)
c.6662A>T (p.His2221Leu)
c.6818A>T (p.His2273Leu)
c.7025A>T (p.His2342Leu)
c.6326A>T (p.His2109Leu)
c.7073A>T (p.His2358Leu)
dbSNP
16g.3727968T>CCA394550578CREBBPc.7079A>G (p.His2360Arg)
c.6965A>G (p.His2322Arg)
c.7034A>G (p.His2345Arg)
c.6662A>G (p.His2221Arg)
c.6818A>G (p.His2273Arg)
c.7025A>G (p.His2342Arg)
c.6326A>G (p.His2109Arg)
c.7073A>G (p.His2358Arg)
16g.3727968T>GCA394550579CREBBPc.7079A>C (p.His2360Pro)
c.6965A>C (p.His2322Pro)
c.7034A>C (p.His2345Pro)
c.6662A>C (p.His2221Pro)
c.6818A>C (p.His2273Pro)
c.7025A>C (p.His2342Pro)
c.6326A>C (p.His2109Pro)
c.7073A>C (p.His2358Pro)
dbSNP
16g.3727968_3727989delinsTGTGGAGGCTGGGACTGGGGCCCA2202928425CREBBPc.7058_7079delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2353=)
c.6944_6965delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2315=)
c.7013_7034delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2338=)
c.6641_6662delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2214=)
c.6797_6818delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2266=)
c.7004_7025delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2335=)
c.6305_6326delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2102=)
c.7052_7073delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2351=)
16g.3727969G>ACA394550581CREBBPc.7078C>T (p.His2360Tyr)
c.6964C>T (p.His2322Tyr)
c.7033C>T (p.His2345Tyr)
c.6661C>T (p.His2221Tyr)
c.6817C>T (p.His2273Tyr)
c.7024C>T (p.His2342Tyr)
c.6325C>T (p.His2109Tyr)
c.7072C>T (p.His2358Tyr)
dbSNP gnomAD v4
16g.3727969G>CCA394550582CREBBPc.7078C>G (p.His2360Asp)
c.6964C>G (p.His2322Asp)
c.7033C>G (p.His2345Asp)
c.6661C>G (p.His2221Asp)
c.6817C>G (p.His2273Asp)
c.7024C>G (p.His2342Asp)
c.6325C>G (p.His2109Asp)
c.7072C>G (p.His2358Asp)
16g.3727969G=CA2202928427CREBBPc.7078C= (p.His2360=)
c.6964C= (p.His2322=)
c.7033C= (p.His2345=)
c.6661C= (p.His2221=)
c.6817C= (p.His2273=)
c.7024C= (p.His2342=)
c.6325C= (p.His2109=)
c.7072C= (p.His2358=)
16g.3727969G>TCA394550583CREBBPc.7078C>A (p.His2360Asn)
c.6964C>A (p.His2322Asn)
c.7033C>A (p.His2345Asn)
c.6661C>A (p.His2221Asn)
c.6817C>A (p.His2273Asn)
c.7024C>A (p.His2342Asn)
c.6325C>A (p.His2109Asn)
c.7072C>A (p.His2358Asn)
16g.3727975_3727995dupCA2202928426CREBBPc.7058_7078dup (p.Pro2359_His2360insArgProGlnSerGlnProPro)
c.6944_6964dup (p.Pro2321_His2322insArgProGlnSerGlnProPro)
c.7013_7033dup (p.Pro2344_His2345insArgProGlnSerGlnProPro)
c.6641_6661dup (p.Pro2220_His2221insArgProGlnSerGlnProPro)
c.6797_6817dup (p.Pro2272_His2273insArgProGlnSerGlnProPro)
c.7004_7024dup (p.Pro2341_His2342insArgProGlnSerGlnProPro)
c.6305_6325dup (p.Pro2108_His2109insArgProGlnSerGlnProPro)
c.7052_7072dup (p.Pro2357_His2358insArgProGlnSerGlnProPro)
dbSNP
16g.3727975_3727995delCA7868955CREBBPc.7058_7078del (p.Arg2353_Pro2359del)
c.6944_6964del (p.Arg2315_Pro2321del)
c.7013_7033del (p.Arg2338_Pro2344del)
c.6641_6661del (p.Arg2214_Pro2220del)
c.6797_6817del (p.Arg2266_Pro2272del)
c.7004_7024del (p.Arg2335_Pro2341del)
c.6305_6325del (p.Arg2102_Pro2108del)
c.7052_7072del (p.Arg2351_Pro2357del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727970T>ACA493393368CREBBPc.7077A>T (p.Pro2359=)
c.6963A>T (p.Pro2321=)
c.7032A>T (p.Pro2344=)
c.6660A>T (p.Pro2220=)
c.6816A>T (p.Pro2272=)
c.7023A>T (p.Pro2341=)
c.6324A>T (p.Pro2108=)
c.7071A>T (p.Pro2357=)
16g.3727970T>CCA493393369CREBBPc.7077A>G (p.Pro2359=)
c.6963A>G (p.Pro2321=)
c.7032A>G (p.Pro2344=)
c.6660A>G (p.Pro2220=)
c.6816A>G (p.Pro2272=)
c.7023A>G (p.Pro2341=)
c.6324A>G (p.Pro2108=)
c.7071A>G (p.Pro2357=)
16g.3727970T>GCA493393370CREBBPc.7077A>C (p.Pro2359=)
c.6963A>C (p.Pro2321=)
c.7032A>C (p.Pro2344=)
c.6660A>C (p.Pro2220=)
c.6816A>C (p.Pro2272=)
c.7023A>C (p.Pro2341=)
c.6324A>C (p.Pro2108=)
c.7071A>C (p.Pro2357=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727970T=CA2202928428CREBBPc.7077A= (p.Pro2359=)
c.6963A= (p.Pro2321=)
c.7032A= (p.Pro2344=)
c.6660A= (p.Pro2220=)
c.6816A= (p.Pro2272=)
c.7023A= (p.Pro2341=)
c.6324A= (p.Pro2108=)
c.7071A= (p.Pro2357=)
16g.3727971G>ACA394550584CREBBPc.7076C>T (p.Pro2359Leu)
c.6962C>T (p.Pro2321Leu)
c.7031C>T (p.Pro2344Leu)
c.6659C>T (p.Pro2220Leu)
c.6815C>T (p.Pro2272Leu)
c.7022C>T (p.Pro2341Leu)
c.6323C>T (p.Pro2108Leu)
c.7070C>T (p.Pro2357Leu)
dbSNP gnomAD v4
16g.3727971G>CCA394550585CREBBPc.7076C>G (p.Pro2359Arg)
c.6962C>G (p.Pro2321Arg)
c.7031C>G (p.Pro2344Arg)
c.6659C>G (p.Pro2220Arg)
c.6815C>G (p.Pro2272Arg)
c.7022C>G (p.Pro2341Arg)
c.6323C>G (p.Pro2108Arg)
c.7070C>G (p.Pro2357Arg)
dbSNP
16g.3727971G>TCA394550587CREBBPc.7076C>A (p.Pro2359Gln)
c.6962C>A (p.Pro2321Gln)
c.7031C>A (p.Pro2344Gln)
c.6659C>A (p.Pro2220Gln)
c.6815C>A (p.Pro2272Gln)
c.7022C>A (p.Pro2341Gln)
c.6323C>A (p.Pro2108Gln)
c.7070C>A (p.Pro2357Gln)
16g.3727972G>ACA394550590CREBBPc.7075C>T (p.Pro2359Ser)
c.6961C>T (p.Pro2321Ser)
c.7030C>T (p.Pro2344Ser)
c.6658C>T (p.Pro2220Ser)
c.6814C>T (p.Pro2272Ser)
c.7021C>T (p.Pro2341Ser)
c.6322C>T (p.Pro2108Ser)
c.7069C>T (p.Pro2357Ser)
dbSNP gnomAD v2 gnomAD v4
16g.3727972G>CCA394550592CREBBPc.7075C>G (p.Pro2359Ala)
c.6961C>G (p.Pro2321Ala)
c.7030C>G (p.Pro2344Ala)
c.6658C>G (p.Pro2220Ala)
c.6814C>G (p.Pro2272Ala)
c.7021C>G (p.Pro2341Ala)
c.6322C>G (p.Pro2108Ala)
c.7069C>G (p.Pro2357Ala)
dbSNP
16g.3727972G=CA2202928429CREBBPc.7075C= (p.Pro2359=)
c.6961C= (p.Pro2321=)
c.7030C= (p.Pro2344=)
c.6658C= (p.Pro2220=)
c.6814C= (p.Pro2272=)
c.7021C= (p.Pro2341=)
c.6322C= (p.Pro2108=)
c.7069C= (p.Pro2357=)
16g.3727972G>TCA394550594CREBBPc.7075C>A (p.Pro2359Thr)
c.6961C>A (p.Pro2321Thr)
c.7030C>A (p.Pro2344Thr)
c.6658C>A (p.Pro2220Thr)
c.6814C>A (p.Pro2272Thr)
c.7021C>A (p.Pro2341Thr)
c.6322C>A (p.Pro2108Thr)
c.7069C>A (p.Pro2357Thr)
dbSNP
16g.3727973A=CA2202928430CREBBPc.7074T= (p.Pro2358=)
c.6960T= (p.Pro2320=)
c.7029T= (p.Pro2343=)
c.6657T= (p.Pro2219=)
c.6813T= (p.Pro2271=)
c.7020T= (p.Pro2340=)
c.6321T= (p.Pro2107=)
c.7068T= (p.Pro2356=)
16g.3727973A>CCA493393376CREBBPc.7074T>G (p.Pro2358=)
c.6960T>G (p.Pro2320=)
c.7029T>G (p.Pro2343=)
c.6657T>G (p.Pro2219=)
c.6813T>G (p.Pro2271=)
c.7020T>G (p.Pro2340=)
c.6321T>G (p.Pro2107=)
c.7068T>G (p.Pro2356=)
16g.3727973A>GCA493393378CREBBPc.7074T>C (p.Pro2358=)
c.6960T>C (p.Pro2320=)
c.7029T>C (p.Pro2343=)
c.6657T>C (p.Pro2219=)
c.6813T>C (p.Pro2271=)
c.7020T>C (p.Pro2340=)
c.6321T>C (p.Pro2107=)
c.7068T>C (p.Pro2356=)
dbSNP
16g.3727973A>TCA493393377CREBBPc.7074T>A (p.Pro2358=)
c.6960T>A (p.Pro2320=)
c.7029T>A (p.Pro2343=)
c.6657T>A (p.Pro2219=)
c.6813T>A (p.Pro2271=)
c.7020T>A (p.Pro2340=)
c.6321T>A (p.Pro2107=)
c.7068T>A (p.Pro2356=)
dbSNP gnomAD v3 gnomAD v4
16g.3727974G>ACA394550595CREBBPc.7073C>T (p.Pro2358Leu)
c.6959C>T (p.Pro2320Leu)
c.7028C>T (p.Pro2343Leu)
c.6656C>T (p.Pro2219Leu)
c.6812C>T (p.Pro2271Leu)
c.7019C>T (p.Pro2340Leu)
c.6320C>T (p.Pro2107Leu)
c.7067C>T (p.Pro2356Leu)
16g.3727974G>CCA394550596CREBBPc.7073C>G (p.Pro2358Arg)
c.6959C>G (p.Pro2320Arg)
c.7028C>G (p.Pro2343Arg)
c.6656C>G (p.Pro2219Arg)
c.6812C>G (p.Pro2271Arg)
c.7019C>G (p.Pro2340Arg)
c.6320C>G (p.Pro2107Arg)
c.7067C>G (p.Pro2356Arg)
dbSNP
16g.3727974G>TCA394550598CREBBPc.7073C>A (p.Pro2358His)
c.6959C>A (p.Pro2320His)
c.7028C>A (p.Pro2343His)
c.6656C>A (p.Pro2219His)
c.6812C>A (p.Pro2271His)
c.7019C>A (p.Pro2340His)
c.6320C>A (p.Pro2107His)
c.7067C>A (p.Pro2356His)
dbSNP
16g.3727975G>ACA394550599CREBBPc.7072C>T (p.Pro2358Ser)
c.6958C>T (p.Pro2320Ser)
c.7027C>T (p.Pro2343Ser)
c.6655C>T (p.Pro2219Ser)
c.6811C>T (p.Pro2271Ser)
c.7018C>T (p.Pro2340Ser)
c.6319C>T (p.Pro2107Ser)
c.7066C>T (p.Pro2356Ser)
dbSNP
16g.3727975G>CCA394550602CREBBPc.7072C>G (p.Pro2358Ala)
c.6958C>G (p.Pro2320Ala)
c.7027C>G (p.Pro2343Ala)
c.6655C>G (p.Pro2219Ala)
c.6811C>G (p.Pro2271Ala)
c.7018C>G (p.Pro2340Ala)
c.6319C>G (p.Pro2107Ala)
c.7066C>G (p.Pro2356Ala)
dbSNP
16g.3727975G=CA2202928431CREBBPc.7072C= (p.Pro2358=)
c.6958C= (p.Pro2320=)
c.7027C= (p.Pro2343=)
c.6655C= (p.Pro2219=)
c.6811C= (p.Pro2271=)
c.7018C= (p.Pro2340=)
c.6319C= (p.Pro2107=)
c.7066C= (p.Pro2356=)
16g.3727975G>TCA394550601CREBBPc.7072C>A (p.Pro2358Thr)
c.6958C>A (p.Pro2320Thr)
c.7027C>A (p.Pro2343Thr)
c.6655C>A (p.Pro2219Thr)
c.6811C>A (p.Pro2271Thr)
c.7018C>A (p.Pro2340Thr)
c.6319C>A (p.Pro2107Thr)
c.7066C>A (p.Pro2356Thr)
dbSNP gnomAD v2 gnomAD v4
16g.3727976C>ACA394550604CREBBPc.7071G>T (p.Gln2357His)
c.6957G>T (p.Gln2319His)
c.7026G>T (p.Gln2342His)
c.6654G>T (p.Gln2218His)
c.6810G>T (p.Gln2270His)
c.7017G>T (p.Gln2339His)
c.6318G>T (p.Gln2106His)
c.7065G>T (p.Gln2355His)
dbSNP
16g.3727976C>GCA394550606CREBBPc.7071G>C (p.Gln2357His)
c.6957G>C (p.Gln2319His)
c.7026G>C (p.Gln2342His)
c.6654G>C (p.Gln2218His)
c.6810G>C (p.Gln2270His)
c.7017G>C (p.Gln2339His)
c.6318G>C (p.Gln2106His)
c.7065G>C (p.Gln2355His)
dbSNP
16g.3727976C>TCA493393382CREBBPc.7071G>A (p.Gln2357=)
c.6957G>A (p.Gln2319=)
c.7026G>A (p.Gln2342=)
c.6654G>A (p.Gln2218=)
c.6810G>A (p.Gln2270=)
c.7017G>A (p.Gln2339=)
c.6318G>A (p.Gln2106=)
c.7065G>A (p.Gln2355=)
dbSNP
16g.3727977T>ACA394550608CREBBPc.7070A>T (p.Gln2357Leu)
c.6956A>T (p.Gln2319Leu)
c.7025A>T (p.Gln2342Leu)
c.6653A>T (p.Gln2218Leu)
c.6809A>T (p.Gln2270Leu)
c.7016A>T (p.Gln2339Leu)
c.6317A>T (p.Gln2106Leu)
c.7064A>T (p.Gln2355Leu)
16g.3727977T>CCA394550609CREBBPc.7070A>G (p.Gln2357Arg)
c.6956A>G (p.Gln2319Arg)
c.7025A>G (p.Gln2342Arg)
c.6653A>G (p.Gln2218Arg)
c.6809A>G (p.Gln2270Arg)
c.7016A>G (p.Gln2339Arg)
c.6317A>G (p.Gln2106Arg)
c.7064A>G (p.Gln2355Arg)
16g.3727977T>GCA394550611CREBBPc.7070A>C (p.Gln2357Pro)
c.6956A>C (p.Gln2319Pro)
c.7025A>C (p.Gln2342Pro)
c.6653A>C (p.Gln2218Pro)
c.6809A>C (p.Gln2270Pro)
c.7016A>C (p.Gln2339Pro)
c.6317A>C (p.Gln2106Pro)
c.7064A>C (p.Gln2355Pro)
16g.3727978G>ACA394550614CREBBPc.7069C>T (p.Gln2357Ter)
c.6955C>T (p.Gln2319Ter)
c.7024C>T (p.Gln2342Ter)
c.6652C>T (p.Gln2218Ter)
c.6808C>T (p.Gln2270Ter)
c.7015C>T (p.Gln2339Ter)
c.6316C>T (p.Gln2106Ter)
c.7063C>T (p.Gln2355Ter)
16g.3727978G>CCA394550615CREBBPc.7069C>G (p.Gln2357Glu)
c.6955C>G (p.Gln2319Glu)
c.7024C>G (p.Gln2342Glu)
c.6652C>G (p.Gln2218Glu)
c.6808C>G (p.Gln2270Glu)
c.7015C>G (p.Gln2339Glu)
c.6316C>G (p.Gln2106Glu)
c.7063C>G (p.Gln2355Glu)
gnomAD v4
16g.3727978G>TCA394550616CREBBPc.7069C>A (p.Gln2357Lys)
c.6955C>A (p.Gln2319Lys)
c.7024C>A (p.Gln2342Lys)
c.6652C>A (p.Gln2218Lys)
c.6808C>A (p.Gln2270Lys)
c.7015C>A (p.Gln2339Lys)
c.6316C>A (p.Gln2106Lys)
c.7063C>A (p.Gln2355Lys)
16g.3727979G>ACA493393384CREBBPc.7068C>T (p.Ser2356=)
c.6954C>T (p.Ser2318=)
c.7023C>T (p.Ser2341=)
c.6651C>T (p.Ser2217=)
c.6807C>T (p.Ser2269=)
c.7014C>T (p.Ser2338=)
c.6315C>T (p.Ser2105=)
c.7062C>T (p.Ser2354=)
dbSNP gnomAD v4
16g.3727979G>CCA493393385CREBBPc.7068C>G (p.Ser2356=)
c.6954C>G (p.Ser2318=)
c.7023C>G (p.Ser2341=)
c.6651C>G (p.Ser2217=)
c.6807C>G (p.Ser2269=)
c.7014C>G (p.Ser2338=)
c.6315C>G (p.Ser2105=)
c.7062C>G (p.Ser2354=)
dbSNP
16g.3727979G>TCA493393386CREBBPc.7068C>A (p.Ser2356=)
c.6954C>A (p.Ser2318=)
c.7023C>A (p.Ser2341=)
c.6651C>A (p.Ser2217=)
c.6807C>A (p.Ser2269=)
c.7014C>A (p.Ser2338=)
c.6315C>A (p.Ser2105=)
c.7062C>A (p.Ser2354=)
dbSNP
16g.3727980G>ACA394550619CREBBPc.7067C>T (p.Ser2356Phe)
c.6953C>T (p.Ser2318Phe)
c.7022C>T (p.Ser2341Phe)
c.6650C>T (p.Ser2217Phe)
c.6806C>T (p.Ser2269Phe)
c.7013C>T (p.Ser2338Phe)
c.6314C>T (p.Ser2105Phe)
c.7061C>T (p.Ser2354Phe)
dbSNP COSMIC
16g.3727980G>CCA394550620CREBBPc.7067C>G (p.Ser2356Cys)
c.6953C>G (p.Ser2318Cys)
c.7022C>G (p.Ser2341Cys)
c.6650C>G (p.Ser2217Cys)
c.6806C>G (p.Ser2269Cys)
c.7013C>G (p.Ser2338Cys)
c.6314C>G (p.Ser2105Cys)
c.7061C>G (p.Ser2354Cys)
dbSNP
16g.3727980G>TCA394550621CREBBPc.7067C>A (p.Ser2356Tyr)
c.6953C>A (p.Ser2318Tyr)
c.7022C>A (p.Ser2341Tyr)
c.6650C>A (p.Ser2217Tyr)
c.6806C>A (p.Ser2269Tyr)
c.7013C>A (p.Ser2338Tyr)
c.6314C>A (p.Ser2105Tyr)
c.7061C>A (p.Ser2354Tyr)
16g.3727981A>CCA394550626CREBBPc.7066T>G (p.Ser2356Ala)
c.6952T>G (p.Ser2318Ala)
c.7021T>G (p.Ser2341Ala)
c.6649T>G (p.Ser2217Ala)
c.6805T>G (p.Ser2269Ala)
c.7012T>G (p.Ser2338Ala)
c.6313T>G (p.Ser2105Ala)
c.7060T>G (p.Ser2354Ala)
dbSNP
16g.3727981A>GCA394550625CREBBPc.7066T>C (p.Ser2356Pro)
c.6952T>C (p.Ser2318Pro)
c.7021T>C (p.Ser2341Pro)
c.6649T>C (p.Ser2217Pro)
c.6805T>C (p.Ser2269Pro)
c.7012T>C (p.Ser2338Pro)
c.6313T>C (p.Ser2105Pro)
c.7060T>C (p.Ser2354Pro)
dbSNP COSMIC
16g.3727981A>TCA394550623CREBBPc.7066T>A (p.Ser2356Thr)
c.6952T>A (p.Ser2318Thr)
c.7021T>A (p.Ser2341Thr)
c.6649T>A (p.Ser2217Thr)
c.6805T>A (p.Ser2269Thr)
c.7012T>A (p.Ser2338Thr)
c.6313T>A (p.Ser2105Thr)
c.7060T>A (p.Ser2354Thr)
dbSNP
16g.3727982C>ACA394550628CREBBPc.7065G>T (p.Gln2355His)
c.6951G>T (p.Gln2317His)
c.7020G>T (p.Gln2340His)
c.6648G>T (p.Gln2216His)
c.6804G>T (p.Gln2268His)
c.7011G>T (p.Gln2337His)
c.6312G>T (p.Gln2104His)
c.7059G>T (p.Gln2353His)
dbSNP gnomAD v4
16g.3727982C>GCA394550630CREBBPc.7065G>C (p.Gln2355His)
c.6951G>C (p.Gln2317His)
c.7020G>C (p.Gln2340His)
c.6648G>C (p.Gln2216His)
c.6804G>C (p.Gln2268His)
c.7011G>C (p.Gln2337His)
c.6312G>C (p.Gln2104His)
c.7059G>C (p.Gln2353His)
dbSNP gnomAD v4
16g.3727982C>TCA493393388CREBBPc.7065G>A (p.Gln2355=)
c.6951G>A (p.Gln2317=)
c.7020G>A (p.Gln2340=)
c.6648G>A (p.Gln2216=)
c.6804G>A (p.Gln2268=)
c.7011G>A (p.Gln2337=)
c.6312G>A (p.Gln2104=)
c.7059G>A (p.Gln2353=)
dbSNP

Number of alleles fetched