Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3727841G>ACA493393224CREBBPc.7206C>T (p.Asn2402=)
c.7092C>T (p.Asn2364=)
c.7161C>T (p.Asn2387=)
c.6789C>T (p.Asn2263=)
c.6945C>T (p.Asn2315=)
c.7152C>T (p.Asn2384=)
c.6453C>T (p.Asn2151=)
c.7200C>T (p.Asn2400=)
gnomAD v4
16g.3727841G>CCA394550310CREBBPc.7206C>G (p.Asn2402Lys)
c.7092C>G (p.Asn2364Lys)
c.7161C>G (p.Asn2387Lys)
c.6789C>G (p.Asn2263Lys)
c.6945C>G (p.Asn2315Lys)
c.7152C>G (p.Asn2384Lys)
c.6453C>G (p.Asn2151Lys)
c.7200C>G (p.Asn2400Lys)
dbSNP
16g.3727841G>TCA394550311CREBBPc.7206C>A (p.Asn2402Lys)
c.7092C>A (p.Asn2364Lys)
c.7161C>A (p.Asn2387Lys)
c.6789C>A (p.Asn2263Lys)
c.6945C>A (p.Asn2315Lys)
c.7152C>A (p.Asn2384Lys)
c.6453C>A (p.Asn2151Lys)
c.7200C>A (p.Asn2400Lys)
16g.3727842T>ACA394550312CREBBPc.7205A>T (p.Asn2402Ile)
c.7091A>T (p.Asn2364Ile)
c.7160A>T (p.Asn2387Ile)
c.6788A>T (p.Asn2263Ile)
c.6944A>T (p.Asn2315Ile)
c.7151A>T (p.Asn2384Ile)
c.6452A>T (p.Asn2151Ile)
c.7199A>T (p.Asn2400Ile)
dbSNP
16g.3727842T>CCA394550313CREBBPc.7205A>G (p.Asn2402Ser)
c.7091A>G (p.Asn2364Ser)
c.7160A>G (p.Asn2387Ser)
c.6788A>G (p.Asn2263Ser)
c.6944A>G (p.Asn2315Ser)
c.7151A>G (p.Asn2384Ser)
c.6452A>G (p.Asn2151Ser)
c.7199A>G (p.Asn2400Ser)
dbSNP
16g.3727842T>GCA394550314CREBBPc.7205A>C (p.Asn2402Thr)
c.7091A>C (p.Asn2364Thr)
c.7160A>C (p.Asn2387Thr)
c.6788A>C (p.Asn2263Thr)
c.6944A>C (p.Asn2315Thr)
c.7151A>C (p.Asn2384Thr)
c.6452A>C (p.Asn2151Thr)
c.7199A>C (p.Asn2400Thr)
dbSNP gnomAD v4
16g.3727843T>ACA394550317CREBBPc.7204A>T (p.Asn2402Tyr)
c.7090A>T (p.Asn2364Tyr)
c.7159A>T (p.Asn2387Tyr)
c.6787A>T (p.Asn2263Tyr)
c.6943A>T (p.Asn2315Tyr)
c.7150A>T (p.Asn2384Tyr)
c.6451A>T (p.Asn2151Tyr)
c.7198A>T (p.Asn2400Tyr)
16g.3727843T>CCA394550315CREBBPc.7204A>G (p.Asn2402Asp)
c.7090A>G (p.Asn2364Asp)
c.7159A>G (p.Asn2387Asp)
c.6787A>G (p.Asn2263Asp)
c.6943A>G (p.Asn2315Asp)
c.7150A>G (p.Asn2384Asp)
c.6451A>G (p.Asn2151Asp)
c.7198A>G (p.Asn2400Asp)
ClinVar
16g.3727843T>GCA394550316CREBBPc.7204A>C (p.Asn2402His)
c.7090A>C (p.Asn2364His)
c.7159A>C (p.Asn2387His)
c.6787A>C (p.Asn2263His)
c.6943A>C (p.Asn2315His)
c.7150A>C (p.Asn2384His)
c.6451A>C (p.Asn2151His)
c.7198A>C (p.Asn2400His)
dbSNP gnomAD v3 gnomAD v4
16g.3727844C>ACA493393230CREBBPc.7203G>T (p.Gly2401=)
c.7089G>T (p.Gly2363=)
c.7158G>T (p.Gly2386=)
c.6786G>T (p.Gly2262=)
c.6942G>T (p.Gly2314=)
c.7149G>T (p.Gly2383=)
c.6450G>T (p.Gly2150=)
c.7197G>T (p.Gly2399=)
ClinVar dbSNP
16g.3727844C=CA2202928366CREBBPc.7203G= (p.Gly2401=)
c.7089G= (p.Gly2363=)
c.7158G= (p.Gly2386=)
c.6786G= (p.Gly2262=)
c.6942G= (p.Gly2314=)
c.7149G= (p.Gly2383=)
c.6450G= (p.Gly2150=)
c.7197G= (p.Gly2399=)
16g.3727844C>GCA493393232CREBBPc.7203G>C (p.Gly2401=)
c.7089G>C (p.Gly2363=)
c.7158G>C (p.Gly2386=)
c.6786G>C (p.Gly2262=)
c.6942G>C (p.Gly2314=)
c.7149G>C (p.Gly2383=)
c.6450G>C (p.Gly2150=)
c.7197G>C (p.Gly2399=)
16g.3727844C>TCA493393233CREBBPc.7203G>A (p.Gly2401=)
c.7089G>A (p.Gly2363=)
c.7158G>A (p.Gly2386=)
c.6786G>A (p.Gly2262=)
c.6942G>A (p.Gly2314=)
c.7149G>A (p.Gly2383=)
c.6450G>A (p.Gly2150=)
c.7197G>A (p.Gly2399=)
gnomAD v4
16g.3727845C>ACA394550318CREBBPc.7202G>T (p.Gly2401Val)
c.7088G>T (p.Gly2363Val)
c.7157G>T (p.Gly2386Val)
c.6785G>T (p.Gly2262Val)
c.6941G>T (p.Gly2314Val)
c.7148G>T (p.Gly2383Val)
c.6449G>T (p.Gly2150Val)
c.7196G>T (p.Gly2399Val)
dbSNP
16g.3727845C>GCA394550319CREBBPc.7202G>C (p.Gly2401Ala)
c.7088G>C (p.Gly2363Ala)
c.7157G>C (p.Gly2386Ala)
c.6785G>C (p.Gly2262Ala)
c.6941G>C (p.Gly2314Ala)
c.7148G>C (p.Gly2383Ala)
c.6449G>C (p.Gly2150Ala)
c.7196G>C (p.Gly2399Ala)
dbSNP
16g.3727845C>TCA394550320CREBBPc.7202G>A (p.Gly2401Glu)
c.7088G>A (p.Gly2363Glu)
c.7157G>A (p.Gly2386Glu)
c.6785G>A (p.Gly2262Glu)
c.6941G>A (p.Gly2314Glu)
c.7148G>A (p.Gly2383Glu)
c.6449G>A (p.Gly2150Glu)
c.7196G>A (p.Gly2399Glu)
dbSNP
16g.3727846C>ACA394550321CREBBPc.7201G>T (p.Gly2401Trp)
c.7087G>T (p.Gly2363Trp)
c.7156G>T (p.Gly2386Trp)
c.6784G>T (p.Gly2262Trp)
c.6940G>T (p.Gly2314Trp)
c.7147G>T (p.Gly2383Trp)
c.6448G>T (p.Gly2150Trp)
c.7195G>T (p.Gly2399Trp)
dbSNP COSMIC
16g.3727846C>GCA394550322CREBBPc.7201G>C (p.Gly2401Arg)
c.7087G>C (p.Gly2363Arg)
c.7156G>C (p.Gly2386Arg)
c.6784G>C (p.Gly2262Arg)
c.6940G>C (p.Gly2314Arg)
c.7147G>C (p.Gly2383Arg)
c.6448G>C (p.Gly2150Arg)
c.7195G>C (p.Gly2399Arg)
dbSNP
16g.3727846C>TCA394550323CREBBPc.7201G>A (p.Gly2401Arg)
c.7087G>A (p.Gly2363Arg)
c.7156G>A (p.Gly2386Arg)
c.6784G>A (p.Gly2262Arg)
c.6940G>A (p.Gly2314Arg)
c.7147G>A (p.Gly2383Arg)
c.6448G>A (p.Gly2150Arg)
c.7195G>A (p.Gly2399Arg)
dbSNP
16g.3727847C>ACA394550324CREBBPc.7200G>T (p.Leu2400Phe)
c.7086G>T (p.Leu2362Phe)
c.7155G>T (p.Leu2385Phe)
c.6783G>T (p.Leu2261Phe)
c.6939G>T (p.Leu2313Phe)
c.7146G>T (p.Leu2382Phe)
c.6447G>T (p.Leu2149Phe)
c.7194G>T (p.Leu2398Phe)
dbSNP gnomAD v4
16g.3727847C>GCA394550325CREBBPc.7200G>C (p.Leu2400Phe)
c.7086G>C (p.Leu2362Phe)
c.7155G>C (p.Leu2385Phe)
c.6783G>C (p.Leu2261Phe)
c.6939G>C (p.Leu2313Phe)
c.7146G>C (p.Leu2382Phe)
c.6447G>C (p.Leu2149Phe)
c.7194G>C (p.Leu2398Phe)
dbSNP
16g.3727847C>TCA493393236CREBBPc.7200G>A (p.Leu2400=)
c.7086G>A (p.Leu2362=)
c.7155G>A (p.Leu2385=)
c.6783G>A (p.Leu2261=)
c.6939G>A (p.Leu2313=)
c.7146G>A (p.Leu2382=)
c.6447G>A (p.Leu2149=)
c.7194G>A (p.Leu2398=)
dbSNP
16g.3727848A>CCA394550326CREBBPc.7199T>G (p.Leu2400Trp)
c.7085T>G (p.Leu2362Trp)
c.7154T>G (p.Leu2385Trp)
c.6782T>G (p.Leu2261Trp)
c.6938T>G (p.Leu2313Trp)
c.7145T>G (p.Leu2382Trp)
c.6446T>G (p.Leu2149Trp)
c.7193T>G (p.Leu2398Trp)
16g.3727848A>GCA394550327CREBBPc.7199T>C (p.Leu2400Ser)
c.7085T>C (p.Leu2362Ser)
c.7154T>C (p.Leu2385Ser)
c.6782T>C (p.Leu2261Ser)
c.6938T>C (p.Leu2313Ser)
c.7145T>C (p.Leu2382Ser)
c.6446T>C (p.Leu2149Ser)
c.7193T>C (p.Leu2398Ser)
dbSNP
16g.3727848A>TCA394550328CREBBPc.7199T>A (p.Leu2400Ter)
c.7085T>A (p.Leu2362Ter)
c.7154T>A (p.Leu2385Ter)
c.6782T>A (p.Leu2261Ter)
c.6938T>A (p.Leu2313Ter)
c.7145T>A (p.Leu2382Ter)
c.6446T>A (p.Leu2149Ter)
c.7193T>A (p.Leu2398Ter)
16g.3727849A=CA2202928367CREBBPc.7198T= (p.Leu2400=)
c.7084T= (p.Leu2362=)
c.7153T= (p.Leu2385=)
c.6781T= (p.Leu2261=)
c.6937T= (p.Leu2313=)
c.7144T= (p.Leu2382=)
c.6445T= (p.Leu2149=)
c.7192T= (p.Leu2398=)
16g.3727849A>CCA394550329CREBBPc.7198T>G (p.Leu2400Val)
c.7084T>G (p.Leu2362Val)
c.7153T>G (p.Leu2385Val)
c.6781T>G (p.Leu2261Val)
c.6937T>G (p.Leu2313Val)
c.7144T>G (p.Leu2382Val)
c.6445T>G (p.Leu2149Val)
c.7192T>G (p.Leu2398Val)
16g.3727849A>GCA493393242CREBBPc.7198T>C (p.Leu2400=)
c.7084T>C (p.Leu2362=)
c.7153T>C (p.Leu2385=)
c.6781T>C (p.Leu2261=)
c.6937T>C (p.Leu2313=)
c.7144T>C (p.Leu2382=)
c.6445T>C (p.Leu2149=)
c.7192T>C (p.Leu2398=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727849A>TCA394550330CREBBPc.7198T>A (p.Leu2400Met)
c.7084T>A (p.Leu2362Met)
c.7153T>A (p.Leu2385Met)
c.6781T>A (p.Leu2261Met)
c.6937T>A (p.Leu2313Met)
c.7144T>A (p.Leu2382Met)
c.6445T>A (p.Leu2149Met)
c.7192T>A (p.Leu2398Met)
16g.3727850G>ACA7868935CREBBPc.7197C>T (p.His2399=)
c.7083C>T (p.His2361=)
c.7152C>T (p.His2384=)
c.6780C>T (p.His2260=)
c.6936C>T (p.His2312=)
c.7143C>T (p.His2381=)
c.6444C>T (p.His2148=)
c.7191C>T (p.His2397=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727850G>CCA394550332CREBBPc.7197C>G (p.His2399Gln)
c.7083C>G (p.His2361Gln)
c.7152C>G (p.His2384Gln)
c.6780C>G (p.His2260Gln)
c.6936C>G (p.His2312Gln)
c.7143C>G (p.His2381Gln)
c.6444C>G (p.His2148Gln)
c.7191C>G (p.His2397Gln)
dbSNP
16g.3727850G=CA2202928368CREBBPc.7197C= (p.His2399=)
c.7083C= (p.His2361=)
c.7152C= (p.His2384=)
c.6780C= (p.His2260=)
c.6936C= (p.His2312=)
c.7143C= (p.His2381=)
c.6444C= (p.His2148=)
c.7191C= (p.His2397=)
16g.3727850G>TCA394550331CREBBPc.7197C>A (p.His2399Gln)
c.7083C>A (p.His2361Gln)
c.7152C>A (p.His2384Gln)
c.6780C>A (p.His2260Gln)
c.6936C>A (p.His2312Gln)
c.7143C>A (p.His2381Gln)
c.6444C>A (p.His2148Gln)
c.7191C>A (p.His2397Gln)
dbSNP gnomAD v2
16g.3727851T>ACA394550333CREBBPc.7196A>T (p.His2399Leu)
c.7082A>T (p.His2361Leu)
c.7151A>T (p.His2384Leu)
c.6779A>T (p.His2260Leu)
c.6935A>T (p.His2312Leu)
c.7142A>T (p.His2381Leu)
c.6443A>T (p.His2148Leu)
c.7190A>T (p.His2397Leu)
dbSNP
16g.3727851T>CCA394550334CREBBPc.7196A>G (p.His2399Arg)
c.7082A>G (p.His2361Arg)
c.7151A>G (p.His2384Arg)
c.6779A>G (p.His2260Arg)
c.6935A>G (p.His2312Arg)
c.7142A>G (p.His2381Arg)
c.6443A>G (p.His2148Arg)
c.7190A>G (p.His2397Arg)
16g.3727851T>GCA394550335CREBBPc.7196A>C (p.His2399Pro)
c.7082A>C (p.His2361Pro)
c.7151A>C (p.His2384Pro)
c.6779A>C (p.His2260Pro)
c.6935A>C (p.His2312Pro)
c.7142A>C (p.His2381Pro)
c.6443A>C (p.His2148Pro)
c.7190A>C (p.His2397Pro)
dbSNP
16g.3727852G>ACA7868936CREBBPc.7195C>T (p.His2399Tyr)
c.7081C>T (p.His2361Tyr)
c.7150C>T (p.His2384Tyr)
c.6778C>T (p.His2260Tyr)
c.6934C>T (p.His2312Tyr)
c.7141C>T (p.His2381Tyr)
c.6442C>T (p.His2148Tyr)
c.7189C>T (p.His2397Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727852G>CCA394550336CREBBPc.7195C>G (p.His2399Asp)
c.7081C>G (p.His2361Asp)
c.7150C>G (p.His2384Asp)
c.6778C>G (p.His2260Asp)
c.6934C>G (p.His2312Asp)
c.7141C>G (p.His2381Asp)
c.6442C>G (p.His2148Asp)
c.7189C>G (p.His2397Asp)
dbSNP
16g.3727852G=CA2202928369CREBBPc.7195C= (p.His2399=)
c.7081C= (p.His2361=)
c.7150C= (p.His2384=)
c.6778C= (p.His2260=)
c.6934C= (p.His2312=)
c.7141C= (p.His2381=)
c.6442C= (p.His2148=)
c.7189C= (p.His2397=)
16g.3727852G>TCA7868937CREBBPc.7195C>A (p.His2399Asn)
c.7081C>A (p.His2361Asn)
c.7150C>A (p.His2384Asn)
c.6778C>A (p.His2260Asn)
c.6934C>A (p.His2312Asn)
c.7141C>A (p.His2381Asn)
c.6442C>A (p.His2148Asn)
c.7189C>A (p.His2397Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727853T>ACA493393247CREBBPc.7194A>T (p.Gly2398=)
c.7080A>T (p.Gly2360=)
c.7149A>T (p.Gly2383=)
c.6777A>T (p.Gly2259=)
c.6933A>T (p.Gly2311=)
c.7140A>T (p.Gly2380=)
c.6441A>T (p.Gly2147=)
c.7188A>T (p.Gly2396=)
16g.3727853T>CCA7868938CREBBPc.7194A>G (p.Gly2398=)
c.7080A>G (p.Gly2360=)
c.7149A>G (p.Gly2383=)
c.6777A>G (p.Gly2259=)
c.6933A>G (p.Gly2311=)
c.7140A>G (p.Gly2380=)
c.6441A>G (p.Gly2147=)
c.7188A>G (p.Gly2396=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727853T>GCA493393250CREBBPc.7194A>C (p.Gly2398=)
c.7080A>C (p.Gly2360=)
c.7149A>C (p.Gly2383=)
c.6777A>C (p.Gly2259=)
c.6933A>C (p.Gly2311=)
c.7140A>C (p.Gly2380=)
c.6441A>C (p.Gly2147=)
c.7188A>C (p.Gly2396=)
16g.3727853T=CA2202928370CREBBPc.7194A= (p.Gly2398=)
c.7080A= (p.Gly2360=)
c.7149A= (p.Gly2383=)
c.6777A= (p.Gly2259=)
c.6933A= (p.Gly2311=)
c.7140A= (p.Gly2380=)
c.6441A= (p.Gly2147=)
c.7188A= (p.Gly2396=)
16g.3727854C>ACA394550337CREBBPc.7193G>T (p.Gly2398Val)
c.7079G>T (p.Gly2360Val)
c.7148G>T (p.Gly2383Val)
c.6776G>T (p.Gly2259Val)
c.6932G>T (p.Gly2311Val)
c.7139G>T (p.Gly2380Val)
c.6440G>T (p.Gly2147Val)
c.7187G>T (p.Gly2396Val)
16g.3727854C>GCA394550339CREBBPc.7193G>C (p.Gly2398Ala)
c.7079G>C (p.Gly2360Ala)
c.7148G>C (p.Gly2383Ala)
c.6776G>C (p.Gly2259Ala)
c.6932G>C (p.Gly2311Ala)
c.7139G>C (p.Gly2380Ala)
c.6440G>C (p.Gly2147Ala)
c.7187G>C (p.Gly2396Ala)
dbSNP
16g.3727854C>TCA394550338CREBBPc.7193G>A (p.Gly2398Glu)
c.7079G>A (p.Gly2360Glu)
c.7148G>A (p.Gly2383Glu)
c.6776G>A (p.Gly2259Glu)
c.6932G>A (p.Gly2311Glu)
c.7139G>A (p.Gly2380Glu)
c.6440G>A (p.Gly2147Glu)
c.7187G>A (p.Gly2396Glu)
dbSNP
16g.3727855C>ACA394550340CREBBPc.7192G>T (p.Gly2398Ter)
c.7078G>T (p.Gly2360Ter)
c.7147G>T (p.Gly2383Ter)
c.6775G>T (p.Gly2259Ter)
c.6931G>T (p.Gly2311Ter)
c.7138G>T (p.Gly2380Ter)
c.6439G>T (p.Gly2147Ter)
c.7186G>T (p.Gly2396Ter)
dbSNP COSMIC
16g.3727855C=CA2202928371CREBBPc.7192G= (p.Gly2398=)
c.7078G= (p.Gly2360=)
c.7147G= (p.Gly2383=)
c.6775G= (p.Gly2259=)
c.6931G= (p.Gly2311=)
c.7138G= (p.Gly2380=)
c.6439G= (p.Gly2147=)
c.7186G= (p.Gly2396=)
16g.3727855C>GCA394550341CREBBPc.7192G>C (p.Gly2398Arg)
c.7078G>C (p.Gly2360Arg)
c.7147G>C (p.Gly2383Arg)
c.6775G>C (p.Gly2259Arg)
c.6931G>C (p.Gly2311Arg)
c.7138G>C (p.Gly2380Arg)
c.6439G>C (p.Gly2147Arg)
c.7186G>C (p.Gly2396Arg)
dbSNP
16g.3727855C>TCA394550342CREBBPc.7192G>A (p.Gly2398Arg)
c.7078G>A (p.Gly2360Arg)
c.7147G>A (p.Gly2383Arg)
c.6775G>A (p.Gly2259Arg)
c.6931G>A (p.Gly2311Arg)
c.7138G>A (p.Gly2380Arg)
c.6439G>A (p.Gly2147Arg)
c.7186G>A (p.Gly2396Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727856C>ACA394550343CREBBPc.7191G>T (p.Gln2397His)
c.7077G>T (p.Gln2359His)
c.7146G>T (p.Gln2382His)
c.6774G>T (p.Gln2258His)
c.6930G>T (p.Gln2310His)
c.7137G>T (p.Gln2379His)
c.6438G>T (p.Gln2146His)
c.7185G>T (p.Gln2395His)
dbSNP gnomAD v2
16g.3727856C=CA2202928372CREBBPc.7191G= (p.Gln2397=)
c.7077G= (p.Gln2359=)
c.7146G= (p.Gln2382=)
c.6774G= (p.Gln2258=)
c.6930G= (p.Gln2310=)
c.7137G= (p.Gln2379=)
c.6438G= (p.Gln2146=)
c.7185G= (p.Gln2395=)
16g.3727856C>GCA394550344CREBBPc.7191G>C (p.Gln2397His)
c.7077G>C (p.Gln2359His)
c.7146G>C (p.Gln2382His)
c.6774G>C (p.Gln2258His)
c.6930G>C (p.Gln2310His)
c.7137G>C (p.Gln2379His)
c.6438G>C (p.Gln2146His)
c.7185G>C (p.Gln2395His)
dbSNP gnomAD v2
16g.3727856C>TCA493393254CREBBPc.7191G>A (p.Gln2397=)
c.7077G>A (p.Gln2359=)
c.7146G>A (p.Gln2382=)
c.6774G>A (p.Gln2258=)
c.6930G>A (p.Gln2310=)
c.7137G>A (p.Gln2379=)
c.6438G>A (p.Gln2146=)
c.7185G>A (p.Gln2395=)
dbSNP
16g.3727857T>ACA394550345CREBBPc.7190A>T (p.Gln2397Leu)
c.7076A>T (p.Gln2359Leu)
c.7145A>T (p.Gln2382Leu)
c.6773A>T (p.Gln2258Leu)
c.6929A>T (p.Gln2310Leu)
c.7136A>T (p.Gln2379Leu)
c.6437A>T (p.Gln2146Leu)
c.7184A>T (p.Gln2395Leu)
dbSNP
16g.3727857T>CCA394550347CREBBPc.7190A>G (p.Gln2397Arg)
c.7076A>G (p.Gln2359Arg)
c.7145A>G (p.Gln2382Arg)
c.6773A>G (p.Gln2258Arg)
c.6929A>G (p.Gln2310Arg)
c.7136A>G (p.Gln2379Arg)
c.6437A>G (p.Gln2146Arg)
c.7184A>G (p.Gln2395Arg)
dbSNP gnomAD v4
16g.3727857T>GCA394550346CREBBPc.7190A>C (p.Gln2397Pro)
c.7076A>C (p.Gln2359Pro)
c.7145A>C (p.Gln2382Pro)
c.6773A>C (p.Gln2258Pro)
c.6929A>C (p.Gln2310Pro)
c.7136A>C (p.Gln2379Pro)
c.6437A>C (p.Gln2146Pro)
c.7184A>C (p.Gln2395Pro)
16g.3727858delCA2549792249CREBBPc.7189del (p.Gln2397ArgfsTer16)
c.7075del (p.Gln2359ArgfsTer16)
c.7144del (p.Gln2382ArgfsTer16)
c.6772del (p.Gln2258ArgfsTer16)
c.6928del (p.Gln2310ArgfsTer16)
c.7135del (p.Gln2379ArgfsTer16)
c.6436del (p.Gln2146ArgfsTer16)
c.7183del (p.Gln2395ArgfsTer16)
16g.3727858G>ACA394550348CREBBPc.7189C>T (p.Gln2397Ter)
c.7075C>T (p.Gln2359Ter)
c.7144C>T (p.Gln2382Ter)
c.6772C>T (p.Gln2258Ter)
c.6928C>T (p.Gln2310Ter)
c.7135C>T (p.Gln2379Ter)
c.6436C>T (p.Gln2146Ter)
c.7183C>T (p.Gln2395Ter)
dbSNP
16g.3727858G>CCA394550349CREBBPc.7189C>G (p.Gln2397Glu)
c.7075C>G (p.Gln2359Glu)
c.7144C>G (p.Gln2382Glu)
c.6772C>G (p.Gln2258Glu)
c.6928C>G (p.Gln2310Glu)
c.7135C>G (p.Gln2379Glu)
c.6436C>G (p.Gln2146Glu)
c.7183C>G (p.Gln2395Glu)
dbSNP
16g.3727858G>TCA394550350CREBBPc.7189C>A (p.Gln2397Lys)
c.7075C>A (p.Gln2359Lys)
c.7144C>A (p.Gln2382Lys)
c.6772C>A (p.Gln2258Lys)
c.6928C>A (p.Gln2310Lys)
c.7135C>A (p.Gln2379Lys)
c.6436C>A (p.Gln2146Lys)
c.7183C>A (p.Gln2395Lys)
dbSNP
16g.3727859A>CCA394550351CREBBPc.7188T>G (p.Asp2396Glu)
c.7074T>G (p.Asp2358Glu)
c.7143T>G (p.Asp2381Glu)
c.6771T>G (p.Asp2257Glu)
c.6927T>G (p.Asp2309Glu)
c.7134T>G (p.Asp2378Glu)
c.6435T>G (p.Asp2145Glu)
c.7182T>G (p.Asp2394Glu)
dbSNP
16g.3727859A>GCA493393261CREBBPc.7188T>C (p.Asp2396=)
c.7074T>C (p.Asp2358=)
c.7143T>C (p.Asp2381=)
c.6771T>C (p.Asp2257=)
c.6927T>C (p.Asp2309=)
c.7134T>C (p.Asp2378=)
c.6435T>C (p.Asp2145=)
c.7182T>C (p.Asp2394=)
dbSNP
16g.3727859A>TCA394550352CREBBPc.7188T>A (p.Asp2396Glu)
c.7074T>A (p.Asp2358Glu)
c.7143T>A (p.Asp2381Glu)
c.6771T>A (p.Asp2257Glu)
c.6927T>A (p.Asp2309Glu)
c.7134T>A (p.Asp2378Glu)
c.6435T>A (p.Asp2145Glu)
c.7182T>A (p.Asp2394Glu)
dbSNP
16g.3727860T>ACA394550353CREBBPc.7187A>T (p.Asp2396Val)
c.7073A>T (p.Asp2358Val)
c.7142A>T (p.Asp2381Val)
c.6770A>T (p.Asp2257Val)
c.6926A>T (p.Asp2309Val)
c.7133A>T (p.Asp2378Val)
c.6434A>T (p.Asp2145Val)
c.7181A>T (p.Asp2394Val)
dbSNP
16g.3727860T>CCA394550354CREBBPc.7187A>G (p.Asp2396Gly)
c.7073A>G (p.Asp2358Gly)
c.7142A>G (p.Asp2381Gly)
c.6770A>G (p.Asp2257Gly)
c.6926A>G (p.Asp2309Gly)
c.7133A>G (p.Asp2378Gly)
c.6434A>G (p.Asp2145Gly)
c.7181A>G (p.Asp2394Gly)
16g.3727860T>GCA394550355CREBBPc.7187A>C (p.Asp2396Ala)
c.7073A>C (p.Asp2358Ala)
c.7142A>C (p.Asp2381Ala)
c.6770A>C (p.Asp2257Ala)
c.6926A>C (p.Asp2309Ala)
c.7133A>C (p.Asp2378Ala)
c.6434A>C (p.Asp2145Ala)
c.7181A>C (p.Asp2394Ala)
dbSNP
16g.3727861C>ACA394550356CREBBPc.7186G>T (p.Asp2396Tyr)
c.7072G>T (p.Asp2358Tyr)
c.7141G>T (p.Asp2381Tyr)
c.6769G>T (p.Asp2257Tyr)
c.6925G>T (p.Asp2309Tyr)
c.7132G>T (p.Asp2378Tyr)
c.6433G>T (p.Asp2145Tyr)
c.7180G>T (p.Asp2394Tyr)
dbSNP
16g.3727861C>GCA394550357CREBBPc.7186G>C (p.Asp2396His)
c.7072G>C (p.Asp2358His)
c.7141G>C (p.Asp2381His)
c.6769G>C (p.Asp2257His)
c.6925G>C (p.Asp2309His)
c.7132G>C (p.Asp2378His)
c.6433G>C (p.Asp2145His)
c.7180G>C (p.Asp2394His)
dbSNP
16g.3727861C>TCA394550358CREBBPc.7186G>A (p.Asp2396Asn)
c.7072G>A (p.Asp2358Asn)
c.7141G>A (p.Asp2381Asn)
c.6769G>A (p.Asp2257Asn)
c.6925G>A (p.Asp2309Asn)
c.7132G>A (p.Asp2378Asn)
c.6433G>A (p.Asp2145Asn)
c.7180G>A (p.Asp2394Asn)
dbSNP gnomAD v4
16g.3727862T>ACA493393265CREBBPc.7185A>T (p.Ile2395=)
c.7071A>T (p.Ile2357=)
c.7140A>T (p.Ile2380=)
c.6768A>T (p.Ile2256=)
c.6924A>T (p.Ile2308=)
c.7131A>T (p.Ile2377=)
c.6432A>T (p.Ile2144=)
c.7179A>T (p.Ile2393=)
dbSNP gnomAD v4
16g.3727862T>CCA394550359CREBBPc.7185A>G (p.Ile2395Met)
c.7071A>G (p.Ile2357Met)
c.7140A>G (p.Ile2380Met)
c.6768A>G (p.Ile2256Met)
c.6924A>G (p.Ile2308Met)
c.7131A>G (p.Ile2377Met)
c.6432A>G (p.Ile2144Met)
c.7179A>G (p.Ile2393Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727862T>GCA493393266CREBBPc.7185A>C (p.Ile2395=)
c.7071A>C (p.Ile2357=)
c.7140A>C (p.Ile2380=)
c.6768A>C (p.Ile2256=)
c.6924A>C (p.Ile2308=)
c.7131A>C (p.Ile2377=)
c.6432A>C (p.Ile2144=)
c.7179A>C (p.Ile2393=)
16g.3727862T=CA2202928373CREBBPc.7185A= (p.Ile2395=)
c.7071A= (p.Ile2357=)
c.7140A= (p.Ile2380=)
c.6768A= (p.Ile2256=)
c.6924A= (p.Ile2308=)
c.7131A= (p.Ile2377=)
c.6432A= (p.Ile2144=)
c.7179A= (p.Ile2393=)
16g.3727863A=CA2202928374CREBBPc.7184T= (p.Ile2395=)
c.7070T= (p.Ile2357=)
c.7139T= (p.Ile2380=)
c.6767T= (p.Ile2256=)
c.6923T= (p.Ile2308=)
c.7130T= (p.Ile2377=)
c.6431T= (p.Ile2144=)
c.7178T= (p.Ile2393=)
16g.3727863A>CCA394550360CREBBPc.7184T>G (p.Ile2395Arg)
c.7070T>G (p.Ile2357Arg)
c.7139T>G (p.Ile2380Arg)
c.6767T>G (p.Ile2256Arg)
c.6923T>G (p.Ile2308Arg)
c.7130T>G (p.Ile2377Arg)
c.6431T>G (p.Ile2144Arg)
c.7178T>G (p.Ile2393Arg)
16g.3727863A>GCA7868939CREBBPc.7184T>C (p.Ile2395Thr)
c.7070T>C (p.Ile2357Thr)
c.7139T>C (p.Ile2380Thr)
c.6767T>C (p.Ile2256Thr)
c.6923T>C (p.Ile2308Thr)
c.7130T>C (p.Ile2377Thr)
c.6431T>C (p.Ile2144Thr)
c.7178T>C (p.Ile2393Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3727863A>TCA394550361CREBBPc.7184T>A (p.Ile2395Lys)
c.7070T>A (p.Ile2357Lys)
c.7139T>A (p.Ile2380Lys)
c.6767T>A (p.Ile2256Lys)
c.6923T>A (p.Ile2308Lys)
c.7130T>A (p.Ile2377Lys)
c.6431T>A (p.Ile2144Lys)
c.7178T>A (p.Ile2393Lys)
dbSNP
16g.3727864T>ACA394550362CREBBPc.7183A>T (p.Ile2395Leu)
c.7069A>T (p.Ile2357Leu)
c.7138A>T (p.Ile2380Leu)
c.6766A>T (p.Ile2256Leu)
c.6922A>T (p.Ile2308Leu)
c.7129A>T (p.Ile2377Leu)
c.6430A>T (p.Ile2144Leu)
c.7177A>T (p.Ile2393Leu)
16g.3727864T>CCA394550363CREBBPc.7183A>G (p.Ile2395Val)
c.7069A>G (p.Ile2357Val)
c.7138A>G (p.Ile2380Val)
c.6766A>G (p.Ile2256Val)
c.6922A>G (p.Ile2308Val)
c.7129A>G (p.Ile2377Val)
c.6430A>G (p.Ile2144Val)
c.7177A>G (p.Ile2393Val)
dbSNP gnomAD v4
16g.3727864T>GCA394550364CREBBPc.7183A>C (p.Ile2395Leu)
c.7069A>C (p.Ile2357Leu)
c.7138A>C (p.Ile2380Leu)
c.6766A>C (p.Ile2256Leu)
c.6922A>C (p.Ile2308Leu)
c.7129A>C (p.Ile2377Leu)
c.6430A>C (p.Ile2144Leu)
c.7177A>C (p.Ile2393Leu)
16g.3727864T=CA2202928375CREBBPc.7183A= (p.Ile2395=)
c.7069A= (p.Ile2357=)
c.7138A= (p.Ile2380=)
c.6766A= (p.Ile2256=)
c.6922A= (p.Ile2308=)
c.7129A= (p.Ile2377=)
c.6430A= (p.Ile2144=)
c.7177A= (p.Ile2393=)
16g.3727865G>ACA276971046CREBBPc.7182C>T (p.Ser2394=)
c.7068C>T (p.Ser2356=)
c.7137C>T (p.Ser2379=)
c.6765C>T (p.Ser2255=)
c.6921C>T (p.Ser2307=)
c.7128C>T (p.Ser2376=)
c.6429C>T (p.Ser2143=)
c.7176C>T (p.Ser2392=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3727865G>CCA493393269CREBBPc.7182C>G (p.Ser2394=)
c.7068C>G (p.Ser2356=)
c.7137C>G (p.Ser2379=)
c.6765C>G (p.Ser2255=)
c.6921C>G (p.Ser2307=)
c.7128C>G (p.Ser2376=)
c.6429C>G (p.Ser2143=)
c.7176C>G (p.Ser2392=)
dbSNP
16g.3727865G=CA2202928376CREBBPc.7182C= (p.Ser2394=)
c.7068C= (p.Ser2356=)
c.7137C= (p.Ser2379=)
c.6765C= (p.Ser2255=)
c.6921C= (p.Ser2307=)
c.7128C= (p.Ser2376=)
c.6429C= (p.Ser2143=)
c.7176C= (p.Ser2392=)
16g.3727865G>TCA493393271CREBBPc.7182C>A (p.Ser2394=)
c.7068C>A (p.Ser2356=)
c.7137C>A (p.Ser2379=)
c.6765C>A (p.Ser2255=)
c.6921C>A (p.Ser2307=)
c.7128C>A (p.Ser2376=)
c.6429C>A (p.Ser2143=)
c.7176C>A (p.Ser2392=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727866G>ACA394550365CREBBPc.7181C>T (p.Ser2394Phe)
c.7067C>T (p.Ser2356Phe)
c.7136C>T (p.Ser2379Phe)
c.6764C>T (p.Ser2255Phe)
c.6920C>T (p.Ser2307Phe)
c.7127C>T (p.Ser2376Phe)
c.6428C>T (p.Ser2143Phe)
c.7175C>T (p.Ser2392Phe)
dbSNP
16g.3727866G>CCA394550366CREBBPc.7181C>G (p.Ser2394Cys)
c.7067C>G (p.Ser2356Cys)
c.7136C>G (p.Ser2379Cys)
c.6764C>G (p.Ser2255Cys)
c.6920C>G (p.Ser2307Cys)
c.7127C>G (p.Ser2376Cys)
c.6428C>G (p.Ser2143Cys)
c.7175C>G (p.Ser2392Cys)
dbSNP
16g.3727866G>TCA394550367CREBBPc.7181C>A (p.Ser2394Tyr)
c.7067C>A (p.Ser2356Tyr)
c.7136C>A (p.Ser2379Tyr)
c.6764C>A (p.Ser2255Tyr)
c.6920C>A (p.Ser2307Tyr)
c.7127C>A (p.Ser2376Tyr)
c.6428C>A (p.Ser2143Tyr)
c.7175C>A (p.Ser2392Tyr)
dbSNP
16g.3727867A>CCA394550370CREBBPc.7180T>G (p.Ser2394Ala)
c.7066T>G (p.Ser2356Ala)
c.7135T>G (p.Ser2379Ala)
c.6763T>G (p.Ser2255Ala)
c.6919T>G (p.Ser2307Ala)
c.7126T>G (p.Ser2376Ala)
c.6427T>G (p.Ser2143Ala)
c.7174T>G (p.Ser2392Ala)
16g.3727867A>GCA394550368CREBBPc.7180T>C (p.Ser2394Pro)
c.7066T>C (p.Ser2356Pro)
c.7135T>C (p.Ser2379Pro)
c.6763T>C (p.Ser2255Pro)
c.6919T>C (p.Ser2307Pro)
c.7126T>C (p.Ser2376Pro)
c.6427T>C (p.Ser2143Pro)
c.7174T>C (p.Ser2392Pro)
16g.3727867A>TCA394550369CREBBPc.7180T>A (p.Ser2394Thr)
c.7066T>A (p.Ser2356Thr)
c.7135T>A (p.Ser2379Thr)
c.6763T>A (p.Ser2255Thr)
c.6919T>A (p.Ser2307Thr)
c.7126T>A (p.Ser2376Thr)
c.6427T>A (p.Ser2143Thr)
c.7174T>A (p.Ser2392Thr)
16g.3727868G>ACA493393223CREBBPc.7179C>T (p.Ser2393=)
c.7065C>T (p.Ser2355=)
c.7134C>T (p.Ser2378=)
c.6762C>T (p.Ser2254=)
c.6918C>T (p.Ser2306=)
c.7125C>T (p.Ser2375=)
c.6426C>T (p.Ser2142=)
c.7173C>T (p.Ser2391=)
dbSNP
16g.3727868G>CCA394550371CREBBPc.7179C>G (p.Ser2393Arg)
c.7065C>G (p.Ser2355Arg)
c.7134C>G (p.Ser2378Arg)
c.6762C>G (p.Ser2254Arg)
c.6918C>G (p.Ser2306Arg)
c.7125C>G (p.Ser2375Arg)
c.6426C>G (p.Ser2142Arg)
c.7173C>G (p.Ser2391Arg)
dbSNP
16g.3727868G>TCA394550372CREBBPc.7179C>A (p.Ser2393Arg)
c.7065C>A (p.Ser2355Arg)
c.7134C>A (p.Ser2378Arg)
c.6762C>A (p.Ser2254Arg)
c.6918C>A (p.Ser2306Arg)
c.7125C>A (p.Ser2375Arg)
c.6426C>A (p.Ser2142Arg)
c.7173C>A (p.Ser2391Arg)
16g.3727869C>ACA394550373CREBBPc.7178G>T (p.Ser2393Ile)
c.7064G>T (p.Ser2355Ile)
c.7133G>T (p.Ser2378Ile)
c.6761G>T (p.Ser2254Ile)
c.6917G>T (p.Ser2306Ile)
c.7124G>T (p.Ser2375Ile)
c.6425G>T (p.Ser2142Ile)
c.7172G>T (p.Ser2391Ile)
dbSNP
16g.3727869C=CA2202928377CREBBPc.7178G= (p.Ser2393=)
c.7064G= (p.Ser2355=)
c.7133G= (p.Ser2378=)
c.6761G= (p.Ser2254=)
c.6917G= (p.Ser2306=)
c.7124G= (p.Ser2375=)
c.6425G= (p.Ser2142=)
c.7172G= (p.Ser2391=)
16g.3727869C>GCA7868940CREBBPc.7178G>C (p.Ser2393Thr)
c.7064G>C (p.Ser2355Thr)
c.7133G>C (p.Ser2378Thr)
c.6761G>C (p.Ser2254Thr)
c.6917G>C (p.Ser2306Thr)
c.7124G>C (p.Ser2375Thr)
c.6425G>C (p.Ser2142Thr)
c.7172G>C (p.Ser2391Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3727869C>TCA394550374CREBBPc.7178G>A (p.Ser2393Asn)
c.7064G>A (p.Ser2355Asn)
c.7133G>A (p.Ser2378Asn)
c.6761G>A (p.Ser2254Asn)
c.6917G>A (p.Ser2306Asn)
c.7124G>A (p.Ser2375Asn)
c.6425G>A (p.Ser2142Asn)
c.7172G>A (p.Ser2391Asn)
dbSNP
16g.3727870T>ACA394550375CREBBPc.7177A>T (p.Ser2393Cys)
c.7063A>T (p.Ser2355Cys)
c.7132A>T (p.Ser2378Cys)
c.6760A>T (p.Ser2254Cys)
c.6916A>T (p.Ser2306Cys)
c.7123A>T (p.Ser2375Cys)
c.6424A>T (p.Ser2142Cys)
c.7171A>T (p.Ser2391Cys)
16g.3727870T>CCA276971051CREBBPc.7177A>G (p.Ser2393Gly)
c.7063A>G (p.Ser2355Gly)
c.7132A>G (p.Ser2378Gly)
c.6760A>G (p.Ser2254Gly)
c.6916A>G (p.Ser2306Gly)
c.7123A>G (p.Ser2375Gly)
c.6424A>G (p.Ser2142Gly)
c.7171A>G (p.Ser2391Gly)
ClinVar dbSNP
16g.3727870T>GCA394550376CREBBPc.7177A>C (p.Ser2393Arg)
c.7063A>C (p.Ser2355Arg)
c.7132A>C (p.Ser2378Arg)
c.6760A>C (p.Ser2254Arg)
c.6916A>C (p.Ser2306Arg)
c.7123A>C (p.Ser2375Arg)
c.6424A>C (p.Ser2142Arg)
c.7171A>C (p.Ser2391Arg)
16g.3727870T=CA2202928378CREBBPc.7177A= (p.Ser2393=)
c.7063A= (p.Ser2355=)
c.7132A= (p.Ser2378=)
c.6760A= (p.Ser2254=)
c.6916A= (p.Ser2306=)
c.7123A= (p.Ser2375=)
c.6424A= (p.Ser2142=)
c.7171A= (p.Ser2391=)
16g.3727871G>ACA493393227CREBBPc.7176C>T (p.Ala2392=)
c.7062C>T (p.Ala2354=)
c.7131C>T (p.Ala2377=)
c.6759C>T (p.Ala2253=)
c.6915C>T (p.Ala2305=)
c.7122C>T (p.Ala2374=)
c.6423C>T (p.Ala2141=)
c.7170C>T (p.Ala2390=)
dbSNP gnomAD v2 gnomAD v4
16g.3727871G>CCA493393229CREBBPc.7176C>G (p.Ala2392=)
c.7062C>G (p.Ala2354=)
c.7131C>G (p.Ala2377=)
c.6759C>G (p.Ala2253=)
c.6915C>G (p.Ala2305=)
c.7122C>G (p.Ala2374=)
c.6423C>G (p.Ala2141=)
c.7170C>G (p.Ala2390=)
dbSNP
16g.3727871G=CA2202928379CREBBPc.7176C= (p.Ala2392=)
c.7062C= (p.Ala2354=)
c.7131C= (p.Ala2377=)
c.6759C= (p.Ala2253=)
c.6915C= (p.Ala2305=)
c.7122C= (p.Ala2374=)
c.6423C= (p.Ala2141=)
c.7170C= (p.Ala2390=)
16g.3727871G>TCA493393234CREBBPc.7176C>A (p.Ala2392=)
c.7062C>A (p.Ala2354=)
c.7131C>A (p.Ala2377=)
c.6759C>A (p.Ala2253=)
c.6915C>A (p.Ala2305=)
c.7122C>A (p.Ala2374=)
c.6423C>A (p.Ala2141=)
c.7170C>A (p.Ala2390=)
16g.3727872G>ACA394550377CREBBPc.7175C>T (p.Ala2392Val)
c.7061C>T (p.Ala2354Val)
c.7130C>T (p.Ala2377Val)
c.6758C>T (p.Ala2253Val)
c.6914C>T (p.Ala2305Val)
c.7121C>T (p.Ala2374Val)
c.6422C>T (p.Ala2141Val)
c.7169C>T (p.Ala2390Val)
dbSNP COSMIC
16g.3727872G>CCA394550378CREBBPc.7175C>G (p.Ala2392Gly)
c.7061C>G (p.Ala2354Gly)
c.7130C>G (p.Ala2377Gly)
c.6758C>G (p.Ala2253Gly)
c.6914C>G (p.Ala2305Gly)
c.7121C>G (p.Ala2374Gly)
c.6422C>G (p.Ala2141Gly)
c.7169C>G (p.Ala2390Gly)
dbSNP
16g.3727872G>TCA394550379CREBBPc.7175C>A (p.Ala2392Asp)
c.7061C>A (p.Ala2354Asp)
c.7130C>A (p.Ala2377Asp)
c.6758C>A (p.Ala2253Asp)
c.6914C>A (p.Ala2305Asp)
c.7121C>A (p.Ala2374Asp)
c.6422C>A (p.Ala2141Asp)
c.7169C>A (p.Ala2390Asp)
16g.3727873C>ACA394550380CREBBPc.7174G>T (p.Ala2392Ser)
c.7060G>T (p.Ala2354Ser)
c.7129G>T (p.Ala2377Ser)
c.6757G>T (p.Ala2253Ser)
c.6913G>T (p.Ala2305Ser)
c.7120G>T (p.Ala2374Ser)
c.6421G>T (p.Ala2141Ser)
c.7168G>T (p.Ala2390Ser)
dbSNP
16g.3727873C>GCA394550381CREBBPc.7174G>C (p.Ala2392Pro)
c.7060G>C (p.Ala2354Pro)
c.7129G>C (p.Ala2377Pro)
c.6757G>C (p.Ala2253Pro)
c.6913G>C (p.Ala2305Pro)
c.7120G>C (p.Ala2374Pro)
c.6421G>C (p.Ala2141Pro)
c.7168G>C (p.Ala2390Pro)
dbSNP
16g.3727873C>TCA394550382CREBBPc.7174G>A (p.Ala2392Thr)
c.7060G>A (p.Ala2354Thr)
c.7129G>A (p.Ala2377Thr)
c.6757G>A (p.Ala2253Thr)
c.6913G>A (p.Ala2305Thr)
c.7120G>A (p.Ala2374Thr)
c.6421G>A (p.Ala2141Thr)
c.7168G>A (p.Ala2390Thr)
dbSNP
16g.3727874C>ACA394550383CREBBPc.7173G>T (p.Met2391Ile)
c.7059G>T (p.Met2353Ile)
c.7128G>T (p.Met2376Ile)
c.6756G>T (p.Met2252Ile)
c.6912G>T (p.Met2304Ile)
c.7119G>T (p.Met2373Ile)
c.6420G>T (p.Met2140Ile)
c.7167G>T (p.Met2389Ile)
dbSNP
16g.3727874C>GCA394550384CREBBPc.7173G>C (p.Met2391Ile)
c.7059G>C (p.Met2353Ile)
c.7128G>C (p.Met2376Ile)
c.6756G>C (p.Met2252Ile)
c.6912G>C (p.Met2304Ile)
c.7119G>C (p.Met2373Ile)
c.6420G>C (p.Met2140Ile)
c.7167G>C (p.Met2389Ile)
dbSNP
16g.3727874C>TCA394550385CREBBPc.7173G>A (p.Met2391Ile)
c.7059G>A (p.Met2353Ile)
c.7128G>A (p.Met2376Ile)
c.6756G>A (p.Met2252Ile)
c.6912G>A (p.Met2304Ile)
c.7119G>A (p.Met2373Ile)
c.6420G>A (p.Met2140Ile)
c.7167G>A (p.Met2389Ile)
dbSNP gnomAD v4
16g.3727875A>CCA394550386CREBBPc.7172T>G (p.Met2391Arg)
c.7058T>G (p.Met2353Arg)
c.7127T>G (p.Met2376Arg)
c.6755T>G (p.Met2252Arg)
c.6911T>G (p.Met2304Arg)
c.7118T>G (p.Met2373Arg)
c.6419T>G (p.Met2140Arg)
c.7166T>G (p.Met2389Arg)
dbSNP
16g.3727875A>GCA394550387CREBBPc.7172T>C (p.Met2391Thr)
c.7058T>C (p.Met2353Thr)
c.7127T>C (p.Met2376Thr)
c.6755T>C (p.Met2252Thr)
c.6911T>C (p.Met2304Thr)
c.7118T>C (p.Met2373Thr)
c.6419T>C (p.Met2140Thr)
c.7166T>C (p.Met2389Thr)
dbSNP
16g.3727875A>TCA394550388CREBBPc.7172T>A (p.Met2391Lys)
c.7058T>A (p.Met2353Lys)
c.7127T>A (p.Met2376Lys)
c.6755T>A (p.Met2252Lys)
c.6911T>A (p.Met2304Lys)
c.7118T>A (p.Met2373Lys)
c.6419T>A (p.Met2140Lys)
c.7166T>A (p.Met2389Lys)
dbSNP
16g.3727876T>ACA394550390CREBBPc.7171A>T (p.Met2391Leu)
c.7057A>T (p.Met2353Leu)
c.7126A>T (p.Met2376Leu)
c.6754A>T (p.Met2252Leu)
c.6910A>T (p.Met2304Leu)
c.7117A>T (p.Met2373Leu)
c.6418A>T (p.Met2140Leu)
c.7165A>T (p.Met2389Leu)
dbSNP gnomAD v2
16g.3727876T>CCA394550391CREBBPc.7171A>G (p.Met2391Val)
c.7057A>G (p.Met2353Val)
c.7126A>G (p.Met2376Val)
c.6754A>G (p.Met2252Val)
c.6910A>G (p.Met2304Val)
c.7117A>G (p.Met2373Val)
c.6418A>G (p.Met2140Val)
c.7165A>G (p.Met2389Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3727876T>GCA394550389CREBBPc.7171A>C (p.Met2391Leu)
c.7057A>C (p.Met2353Leu)
c.7126A>C (p.Met2376Leu)
c.6754A>C (p.Met2252Leu)
c.6910A>C (p.Met2304Leu)
c.7117A>C (p.Met2373Leu)
c.6418A>C (p.Met2140Leu)
c.7165A>C (p.Met2389Leu)
dbSNP
16g.3727876T=CA2202928380CREBBPc.7171A= (p.Met2391=)
c.7057A= (p.Met2353=)
c.7126A= (p.Met2376=)
c.6754A= (p.Met2252=)
c.6910A= (p.Met2304=)
c.7117A= (p.Met2373=)
c.6418A= (p.Met2140=)
c.7165A= (p.Met2389=)
16g.3727877G>ACA493393246CREBBPc.7170C>T (p.Thr2390=)
c.7056C>T (p.Thr2352=)
c.7125C>T (p.Thr2375=)
c.6753C>T (p.Thr2251=)
c.6909C>T (p.Thr2303=)
c.7116C>T (p.Thr2372=)
c.6417C>T (p.Thr2139=)
c.7164C>T (p.Thr2388=)
16g.3727877G>CCA493393249CREBBPc.7170C>G (p.Thr2390=)
c.7056C>G (p.Thr2352=)
c.7125C>G (p.Thr2375=)
c.6753C>G (p.Thr2251=)
c.6909C>G (p.Thr2303=)
c.7116C>G (p.Thr2372=)
c.6417C>G (p.Thr2139=)
c.7164C>G (p.Thr2388=)
16g.3727877G>TCA493393248CREBBPc.7170C>A (p.Thr2390=)
c.7056C>A (p.Thr2352=)
c.7125C>A (p.Thr2375=)
c.6753C>A (p.Thr2251=)
c.6909C>A (p.Thr2303=)
c.7116C>A (p.Thr2372=)
c.6417C>A (p.Thr2139=)
c.7164C>A (p.Thr2388=)
16g.3727878G>ACA394550394CREBBPc.7169C>T (p.Thr2390Ile)
c.7055C>T (p.Thr2352Ile)
c.7124C>T (p.Thr2375Ile)
c.6752C>T (p.Thr2251Ile)
c.6908C>T (p.Thr2303Ile)
c.7115C>T (p.Thr2372Ile)
c.6416C>T (p.Thr2139Ile)
c.7163C>T (p.Thr2388Ile)
dbSNP
16g.3727878G>CCA394550392CREBBPc.7169C>G (p.Thr2390Ser)
c.7055C>G (p.Thr2352Ser)
c.7124C>G (p.Thr2375Ser)
c.6752C>G (p.Thr2251Ser)
c.6908C>G (p.Thr2303Ser)
c.7115C>G (p.Thr2372Ser)
c.6416C>G (p.Thr2139Ser)
c.7163C>G (p.Thr2388Ser)
dbSNP
16g.3727878G>TCA394550393CREBBPc.7169C>A (p.Thr2390Asn)
c.7055C>A (p.Thr2352Asn)
c.7124C>A (p.Thr2375Asn)
c.6752C>A (p.Thr2251Asn)
c.6908C>A (p.Thr2303Asn)
c.7115C>A (p.Thr2372Asn)
c.6416C>A (p.Thr2139Asn)
c.7163C>A (p.Thr2388Asn)
COSMIC
16g.3727879T>ACA394550395CREBBPc.7168A>T (p.Thr2390Ser)
c.7054A>T (p.Thr2352Ser)
c.7123A>T (p.Thr2375Ser)
c.6751A>T (p.Thr2251Ser)
c.6907A>T (p.Thr2303Ser)
c.7114A>T (p.Thr2372Ser)
c.6415A>T (p.Thr2139Ser)
c.7162A>T (p.Thr2388Ser)
dbSNP
16g.3727879T>CCA394550396CREBBPc.7168A>G (p.Thr2390Ala)
c.7054A>G (p.Thr2352Ala)
c.7123A>G (p.Thr2375Ala)
c.6751A>G (p.Thr2251Ala)
c.6907A>G (p.Thr2303Ala)
c.7114A>G (p.Thr2372Ala)
c.6415A>G (p.Thr2139Ala)
c.7162A>G (p.Thr2388Ala)
16g.3727879T>GCA394550397CREBBPc.7168A>C (p.Thr2390Pro)
c.7054A>C (p.Thr2352Pro)
c.7123A>C (p.Thr2375Pro)
c.6751A>C (p.Thr2251Pro)
c.6907A>C (p.Thr2303Pro)
c.7114A>C (p.Thr2372Pro)
c.6415A>C (p.Thr2139Pro)
c.7162A>C (p.Thr2388Pro)
dbSNP
16g.3727880G>ACA493393257CREBBPc.7167C>T (p.Val2389=)
c.7053C>T (p.Val2351=)
c.7122C>T (p.Val2374=)
c.6750C>T (p.Val2250=)
c.6906C>T (p.Val2302=)
c.7113C>T (p.Val2371=)
c.6414C>T (p.Val2138=)
c.7161C>T (p.Val2387=)
dbSNP
16g.3727880G>CCA493393259CREBBPc.7167C>G (p.Val2389=)
c.7053C>G (p.Val2351=)
c.7122C>G (p.Val2374=)
c.6750C>G (p.Val2250=)
c.6906C>G (p.Val2302=)
c.7113C>G (p.Val2371=)
c.6414C>G (p.Val2138=)
c.7161C>G (p.Val2387=)
dbSNP gnomAD v4
16g.3727880G>TCA493393260CREBBPc.7167C>A (p.Val2389=)
c.7053C>A (p.Val2351=)
c.7122C>A (p.Val2374=)
c.6750C>A (p.Val2250=)
c.6906C>A (p.Val2302=)
c.7113C>A (p.Val2371=)
c.6414C>A (p.Val2138=)
c.7161C>A (p.Val2387=)
dbSNP
16g.3727881A>CCA394550398CREBBPc.7166T>G (p.Val2389Gly)
c.7052T>G (p.Val2351Gly)
c.7121T>G (p.Val2374Gly)
c.6749T>G (p.Val2250Gly)
c.6905T>G (p.Val2302Gly)
c.7112T>G (p.Val2371Gly)
c.6413T>G (p.Val2138Gly)
c.7160T>G (p.Val2387Gly)
dbSNP
16g.3727881A>GCA394550399CREBBPc.7166T>C (p.Val2389Ala)
c.7052T>C (p.Val2351Ala)
c.7121T>C (p.Val2374Ala)
c.6749T>C (p.Val2250Ala)
c.6905T>C (p.Val2302Ala)
c.7112T>C (p.Val2371Ala)
c.6413T>C (p.Val2138Ala)
c.7160T>C (p.Val2387Ala)
dbSNP
16g.3727881A>TCA394550400CREBBPc.7166T>A (p.Val2389Asp)
c.7052T>A (p.Val2351Asp)
c.7121T>A (p.Val2374Asp)
c.6749T>A (p.Val2250Asp)
c.6905T>A (p.Val2302Asp)
c.7112T>A (p.Val2371Asp)
c.6413T>A (p.Val2138Asp)
c.7160T>A (p.Val2387Asp)
dbSNP
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

Number of alleles fetched