Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3727845C>A | CA394550318 | CREBBP | c.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 |
16 | g.3727845C>G | CA394550319 | CREBBP | c.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 |
16 | g.3727845C>T | CA394550320 | CREBBP | c.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 |
16 | g.3727846C>A | CA394550321 | CREBBP | c.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 |
16 | g.3727846C>G | CA394550322 | CREBBP | c.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 |
16 | g.3727846C>T | CA394550323 | CREBBP | c.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 |
16 | g.3727847C>A | CA394550324 | CREBBP | c.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 |
16 | g.3727847C>G | CA394550325 | CREBBP | c.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 |
16 | g.3727847C>T | CA493393236 | CREBBP | c.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 |
16 | g.3727848A>C | CA394550326 | CREBBP | c.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) | |
16 | g.3727848A>G | CA394550327 | CREBBP | c.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 |
16 | g.3727848A>T | CA394550328 | CREBBP | c.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) | |
16 | g.3727849A= | CA2202928367 | CREBBP | c.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=) | |
16 | g.3727849A>C | CA394550329 | CREBBP | c.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) | |
16 | g.3727849A>G | CA493393242 | CREBBP | c.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 |
16 | g.3727849A>T | CA394550330 | CREBBP | c.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) | |
16 | g.3727850G>A | CA7868935 | CREBBP | c.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 |
16 | g.3727850G>C | CA394550332 | CREBBP | c.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 |
16 | g.3727850G= | CA2202928368 | CREBBP | c.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=) | |
16 | g.3727850G>T | CA394550331 | CREBBP | c.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 |
16 | g.3727851T>A | CA394550333 | CREBBP | c.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 |
16 | g.3727851T>C | CA394550334 | CREBBP | c.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) | |
16 | g.3727851T>G | CA394550335 | CREBBP | c.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 |
16 | g.3727852G>A | CA7868936 | CREBBP | c.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 |
16 | g.3727852G>C | CA394550336 | CREBBP | c.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 |
16 | g.3727852G= | CA2202928369 | CREBBP | c.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=) | |
16 | g.3727852G>T | CA7868937 | CREBBP | c.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 |
16 | g.3727853T>A | CA493393247 | CREBBP | c.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=) | |
16 | g.3727853T>C | CA7868938 | CREBBP | c.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 |
16 | g.3727853T>G | CA493393250 | CREBBP | c.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=) | |
16 | g.3727853T= | CA2202928370 | CREBBP | c.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=) | |
16 | g.3727854C>A | CA394550337 | CREBBP | c.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) | |
16 | g.3727854C>G | CA394550339 | CREBBP | c.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 |
16 | g.3727854C>T | CA394550338 | CREBBP | c.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 |
16 | g.3727855C>A | CA394550340 | CREBBP | c.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 |
16 | g.3727855C= | CA2202928371 | CREBBP | c.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=) | |
16 | g.3727855C>G | CA394550341 | CREBBP | c.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 |
16 | g.3727855C>T | CA394550342 | CREBBP | c.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 |
16 | g.3727856C>A | CA394550343 | CREBBP | c.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 |
16 | g.3727856C= | CA2202928372 | CREBBP | c.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=) | |
16 | g.3727856C>G | CA394550344 | CREBBP | c.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 |
16 | g.3727856C>T | CA493393254 | CREBBP | c.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 |
16 | g.3727857T>A | CA394550345 | CREBBP | c.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 |
16 | g.3727857T>C | CA394550347 | CREBBP | c.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 |
16 | g.3727857T>G | CA394550346 | CREBBP | c.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) | |
16 | g.3727858del | CA2549792249 | CREBBP | c.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) | |
16 | g.3727858G>A | CA394550348 | CREBBP | c.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 |
16 | g.3727858G>C | CA394550349 | CREBBP | c.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 |
16 | g.3727858G>T | CA394550350 | CREBBP | c.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 |
16 | g.3727859A>C | CA394550351 | CREBBP | c.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 |
16 | g.3727859A>G | CA493393261 | CREBBP | c.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 |
16 | g.3727859A>T | CA394550352 | CREBBP | c.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 |
16 | g.3727860T>A | CA394550353 | CREBBP | c.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 |
16 | g.3727860T>C | CA394550354 | CREBBP | c.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) | |
16 | g.3727860T>G | CA394550355 | CREBBP | c.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 |
16 | g.3727861C>A | CA394550356 | CREBBP | c.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 |
16 | g.3727861C>G | CA394550357 | CREBBP | c.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 |
16 | g.3727861C>T | CA394550358 | CREBBP | c.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 |
16 | g.3727862T>A | CA493393265 | CREBBP | c.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 |
16 | g.3727862T>C | CA394550359 | CREBBP | c.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 |
16 | g.3727862T>G | CA493393266 | CREBBP | c.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=) | |
16 | g.3727862T= | CA2202928373 | CREBBP | c.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=) | |
16 | g.3727863A= | CA2202928374 | CREBBP | c.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=) | |
16 | g.3727863A>C | CA394550360 | CREBBP | c.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) | |
16 | g.3727863A>G | CA7868939 | CREBBP | c.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 |
16 | g.3727863A>T | CA394550361 | CREBBP | c.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 |
16 | g.3727864T>A | CA394550362 | CREBBP | c.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) | |
16 | g.3727864T>C | CA394550363 | CREBBP | c.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 |
16 | g.3727864T>G | CA394550364 | CREBBP | c.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) | |
16 | g.3727864T= | CA2202928375 | CREBBP | c.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=) | |
16 | g.3727865G>A | CA276971046 | CREBBP | c.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 |
16 | g.3727865G>C | CA493393269 | CREBBP | c.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 |
16 | g.3727865G= | CA2202928376 | CREBBP | c.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=) | |
16 | g.3727865G>T | CA493393271 | CREBBP | c.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 |
16 | g.3727866G>A | CA394550365 | CREBBP | c.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 |
16 | g.3727866G>C | CA394550366 | CREBBP | c.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 |
16 | g.3727866G>T | CA394550367 | CREBBP | c.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 |
16 | g.3727867A>C | CA394550370 | CREBBP | c.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) | |
16 | g.3727867A>G | CA394550368 | CREBBP | c.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) | |
16 | g.3727867A>T | CA394550369 | CREBBP | c.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) | |
16 | g.3727868G>A | CA493393223 | CREBBP | c.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 |
16 | g.3727868G>C | CA394550371 | CREBBP | c.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 |
16 | g.3727868G>T | CA394550372 | CREBBP | c.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) | |
16 | g.3727869C>A | CA394550373 | CREBBP | c.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 |
16 | g.3727869C= | CA2202928377 | CREBBP | c.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=) | |
16 | g.3727869C>G | CA7868940 | CREBBP | c.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 |
16 | g.3727869C>T | CA394550374 | CREBBP | c.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 |
16 | g.3727870T>A | CA394550375 | CREBBP | c.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) | |
16 | g.3727870T>C | CA276971051 | CREBBP | c.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 |
16 | g.3727870T>G | CA394550376 | CREBBP | c.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) | |
16 | g.3727870T= | CA2202928378 | CREBBP | c.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=) | |
16 | g.3727871G>A | CA493393227 | CREBBP | c.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 |
16 | g.3727871G>C | CA493393229 | CREBBP | c.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 |
16 | g.3727871G= | CA2202928379 | CREBBP | c.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=) | |
16 | g.3727871G>T | CA493393234 | CREBBP | c.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=) | |
16 | g.3727872G>A | CA394550377 | CREBBP | c.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 |
16 | g.3727872G>C | CA394550378 | CREBBP | c.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 |
16 | g.3727872G>T | CA394550379 | CREBBP | c.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) | |
16 | g.3727873C>A | CA394550380 | CREBBP | c.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 |
16 | g.3727873C>G | CA394550381 | CREBBP | c.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 |
16 | g.3727873C>T | CA394550382 | CREBBP | c.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 |
16 | g.3727874C>A | CA394550383 | CREBBP | c.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 |
16 | g.3727874C>G | CA394550384 | CREBBP | c.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 |
16 | g.3727874C>T | CA394550385 | CREBBP | c.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 |
16 | g.3727875A>C | CA394550386 | CREBBP | c.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 |
16 | g.3727875A>G | CA394550387 | CREBBP | c.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 |
16 | g.3727875A>T | CA394550388 | CREBBP | c.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 |
16 | g.3727876T>A | CA394550390 | CREBBP | c.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 |
16 | g.3727876T>C | CA394550391 | CREBBP | c.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 |
16 | g.3727876T>G | CA394550389 | CREBBP | c.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 |
16 | g.3727876T= | CA2202928380 | CREBBP | c.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=) | |
16 | g.3727877G>A | CA493393246 | CREBBP | c.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=) | |
16 | g.3727877G>C | CA493393249 | CREBBP | c.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=) | |
16 | g.3727877G>T | CA493393248 | CREBBP | c.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=) | |
16 | g.3727878G>A | CA394550394 | CREBBP | c.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 |
16 | g.3727878G>C | CA394550392 | CREBBP | c.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 |
16 | g.3727878G>T | CA394550393 | CREBBP | c.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 |
16 | g.3727879T>A | CA394550395 | CREBBP | c.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 |
16 | g.3727879T>C | CA394550396 | CREBBP | c.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) | |
16 | g.3727879T>G | CA394550397 | CREBBP | c.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 |
16 | g.3727880G>A | CA493393257 | CREBBP | c.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 |
16 | g.3727880G>C | CA493393259 | CREBBP | c.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 |
16 | g.3727880G>T | CA493393260 | CREBBP | c.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 |
16 | g.3727881A>C | CA394550398 | CREBBP | c.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 |
16 | g.3727881A>G | CA394550399 | CREBBP | c.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 |
16 | g.3727881A>T | CA394550400 | CREBBP | c.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 |
16 | g.3727882C>A | CA394550401 | CREBBP | c.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 |
16 | g.3727882C>G | CA394550403 | CREBBP | c.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 |
16 | g.3727882C>T | CA394550402 | CREBBP | c.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 |
16 | g.3727883T>A | CA493393263 | CREBBP | c.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 |
16 | g.3727883T>C | CA7868941 | CREBBP | c.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 |
16 | g.3727883T>G | CA493393264 | CREBBP | c.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 |
16 | g.3727883T= | CA2202928381 | CREBBP | c.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=) | |
16 | g.3727884G>A | CA394550404 | CREBBP | c.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 |
16 | g.3727884G>C | CA394550405 | CREBBP | c.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 |
16 | g.3727884G= | CA2202928382 | CREBBP | c.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=) | |
16 | g.3727884G>T | CA394550406 | CREBBP | c.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 |
16 | g.3727885C>A | CA394550407 | CREBBP | c.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 |
16 | g.3727885C= | CA2202928383 | CREBBP | c.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=) | |
16 | g.3727885C>G | CA394550408 | CREBBP | c.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 |
16 | g.3727885C>T | CA7868942 | CREBBP | c.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 |
16 | g.3727886G>A | CA493393268 | CREBBP | c.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 |
16 | g.3727886G>C | CA493393270 | CREBBP | c.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 |
16 | g.3727886G= | CA2202928384 | CREBBP | c.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=) | |
16 | g.3727886G>T | CA493393272 | CREBBP | c.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 |
16 | g.3727887A= | CA2202928385 | CREBBP | c.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=) | |
16 | g.3727887A>C | CA276971066 | CREBBP | c.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 |
16 | g.3727887A>G | CA394550409 | CREBBP | c.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 |
16 | g.3727887A>T | CA394550410 | CREBBP | c.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 |
16 | g.3727888G>A | CA394550411 | CREBBP | c.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 |
16 | g.3727888G>C | CA394550412 | CREBBP | c.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 |
16 | g.3727888G= | CA2202928386 | CREBBP | c.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=) | |
16 | g.3727888G>T | CA394550413 | CREBBP | c.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) | |
16 | g.3727889T>A | CA493393275 | CREBBP | c.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 |
16 | g.3727889T>C | CA493393276 | CREBBP | c.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 |
16 | g.3727889T>G | CA493393277 | CREBBP | c.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 |
16 | g.3727890C>A | CA394550414 | CREBBP | c.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 |
16 | g.3727890C= | CA2202928387 | CREBBP | c.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=) | |
16 | g.3727890C>G | CA394550415 | CREBBP | c.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 |
16 | g.3727890C>T | CA394550416 | CREBBP | c.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 |
16 | g.3727891C>A | CA394550417 | CREBBP | c.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) | |
16 | g.3727891C= | CA2202928388 | CREBBP | c.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=) | |
16 | g.3727891C>G | CA394550418 | CREBBP | c.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) | |
16 | g.3727891C>T | CA394550419 | CREBBP | c.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 |
16 | g.3727892G>A | CA276971067 | CREBBP | c.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 |
16 | g.3727892G>C | CA7868943 | CREBBP | c.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 |
16 | g.3727892G= | CA2202928389 | CREBBP | c.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=) | |
16 | g.3727892G>T | CA493393281 | CREBBP | c.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 |
16 | g.3727892_3727893delinsTA | CA645575153 | CREBBP | c.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 |
16 | g.3727898_3727917dup | CA2631401257 | CREBBP | c.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 |
16 | g.3727893G>A | CA394550420 | CREBBP | c.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 |
16 | g.3727893G>C | CA7868944 | CREBBP | c.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 |
16 | g.3727893G= | CA2202928390 | CREBBP | c.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=) | |
16 | g.3727893G>T | CA394550421 | CREBBP | c.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 |
16 | g.3727894G>A | CA394550422 | CREBBP | c.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 |
16 | g.3727894G>C | CA394550423 | CREBBP | c.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 |
16 | g.3727894G>T | CA394550424 | CREBBP | c.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 |
16 | g.3727895G>A | CA493393282 | CREBBP | c.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 |
16 | g.3727895G>C | CA394550425 | CREBBP | c.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 |
16 | g.3727895G= | CA2202928391 | CREBBP | c.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=) | |
16 | g.3727895G>T | CA394550426 | CREBBP | c.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 |
16 | g.3727896T>A | CA394550427 | CREBBP | c.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) | |
16 | g.3727896T>C | CA394550429 | CREBBP | c.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) | |
16 | g.3727896T>G | CA394550428 | CREBBP | c.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 |
16 | g.3727896T= | CA2202928392 | CREBBP | c.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=) | |
16 | g.3727897G>A | CA394550430 | CREBBP | c.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 |
16 | g.3727897G>C | CA394550431 | CREBBP | c.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 |
16 | g.3727897G= | CA2202928393 | CREBBP | c.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=) | |
16 | g.3727897G>T | CA394550432 | CREBBP | c.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 |
16 | g.3727902del | CA645575154 | CREBBP | c.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 |
16 | g.3727898G>A | CA493393284 | CREBBP | c.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 |
16 | g.3727898G>C | CA276971077 | CREBBP | c.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 |
16 | g.3727898G= | CA2202928394 | CREBBP | c.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=) | |
16 | g.3727898G>T | CA493393283 | CREBBP | c.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 |
16 | g.3727899G>A | CA394550433 | CREBBP | c.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 |
16 | g.3727899G>C | CA394550435 | CREBBP | c.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 |
16 | g.3727899G>T | CA394550434 | CREBBP | c.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 |
16 | g.3727900G>A | CA394550436 | CREBBP | c.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 |
16 | g.3727900G>C | CA394550437 | CREBBP | c.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 |
16 | g.3727900G>T | CA394550438 | CREBBP | c.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 |
16 | g.3727901G>A | CA493393288 | CREBBP | c.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 |
16 | g.3727901G>C | CA493393287 | CREBBP | c.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=) | |
16 | g.3727901G= | CA2202928395 | CREBBP | c.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=) | |
16 | g.3727901G>T | CA493393286 | CREBBP | c.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 |
16 | g.3727902G>A | CA394550439 | CREBBP | c.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 |
16 | g.3727902G>C | CA394550440 | CREBBP | c.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 |
16 | g.3727902G= | CA2202928396 | CREBBP | c.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=) | |
16 | g.3727902G>T | CA394550441 | CREBBP | c.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 |
16 | g.3727903A>C | CA394550442 | CREBBP | c.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) | |
16 | g.3727903A>G | CA394550443 | CREBBP | c.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 |
16 | g.3727903A>T | CA394550444 | CREBBP | c.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) | |
16 | g.3727904A= | CA2202928397 | CREBBP | c.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=) | |
16 | g.3727904A>C | CA493393292 | CREBBP | c.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 |
16 | g.3727904A>G | CA493393294 | CREBBP | c.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 |
16 | g.3727904A>T | CA493393293 | CREBBP | c.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=) | |
16 | g.3727905C>A | CA394550445 | CREBBP | c.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 |
16 | g.3727905C>G | CA394550446 | CREBBP | c.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 |
16 | g.3727905C>T | CA394550447 | CREBBP | c.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 |
16 | g.3727906C>A | CA394550448 | CREBBP | c.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 |
16 | g.3727906C>G | CA394550450 | CREBBP | c.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 |
16 | g.3727906C>T | CA394550449 | CREBBP | c.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 |
16 | g.3727907A>C | CA493393296 | CREBBP | c.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 |
16 | g.3727907A>G | CA493393297 | CREBBP | c.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 |
16 | g.3727907A>T | CA493393298 | CREBBP | c.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 |
16 | g.3727908G>A | CA394550451 | CREBBP | c.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 |
16 | g.3727908G>C | CA394550452 | CREBBP | c.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 |
16 | g.3727908G>T | CA394550453 | CREBBP | c.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 |
16 | g.3727909T>A | CA276971079 | CREBBP | c.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 |
16 | g.3727909T>C | CA394550454 | CREBBP | c.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 |
16 | g.3727909T>G | CA394550455 | CREBBP | c.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 |
16 | g.3727909T= | CA2202928398 | CREBBP | c.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=) | |
16 | g.3727910C>A | CA394550456 | CREBBP | c.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 |
16 | g.3727910C= | CA2202928399 | CREBBP | c.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=) | |
16 | g.3727910C>G | CA394550457 | CREBBP | c.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 |
16 | g.3727910C>T | CA493393301 | CREBBP | c.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 |
16 | g.3727911T>A | CA394550458 | CREBBP | c.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) | |
16 | g.3727911T>C | CA7868945 | CREBBP | c.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 |
16 | g.3727911T>G | CA394550459 | CREBBP | c.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 |
16 | g.3727911T= | CA2202928400 | CREBBP | c.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=) | |
16 | g.3727912G>A | CA394550460 | CREBBP | c.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 |
16 | g.3727912G>C | CA394550461 | CREBBP | c.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 |
16 | g.3727912G>T | CA394550462 | CREBBP | c.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 |
16 | g.3727913G>A | CA493393303 | CREBBP | c.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=) | |
16 | g.3727913G>C | CA7868946 | CREBBP | c.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 |
16 | g.3727913G= | CA2202928401 | CREBBP | c.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=) | |
16 | g.3727913G>T | CA493393304 | CREBBP | c.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=) | |
16 | g.3727914G>A | CA394550463 | CREBBP | c.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 |
16 | g.3727914G>C | CA394550465 | CREBBP | c.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 |
16 | g.3727914G= | CA2202928402 | CREBBP | c.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=) | |
16 | g.3727914G>T | CA394550464 | CREBBP | c.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 |
16 | g.3727915G>A | CA394550466 | CREBBP | c.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 |
16 | g.3727915G>C | CA394550467 | CREBBP | c.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 |
16 | g.3727915G>T | CA394550468 | CREBBP | c.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) | |
16 | g.3727916T>A | CA493393306 | CREBBP | c.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 |
16 | g.3727916T>C | CA493393307 | CREBBP | c.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 |
16 | g.3727916T>G | CA493393308 | CREBBP | c.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=) | |
16 | g.3727916T= | CA2202928403 | CREBBP | c.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=) | |
16 | g.3727917G>A | CA394550469 | CREBBP | c.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 |
16 | g.3727917G>C | CA394550470 | CREBBP | c.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) | |
16 | g.3727917G>T | CA394550471 | CREBBP | c.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 |
16 | g.3727918A>C | CA394550472 | CREBBP | c.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) | |
16 | g.3727918A>G | CA394550473 | CREBBP | c.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 |
16 | g.3727918A>T | CA394550474 | CREBBP | c.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 |
16 | g.3727919G>A | CA493393310 | CREBBP | c.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 |
16 | g.3727919G>C | CA493393311 | CREBBP | c.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 |
16 | g.3727919G>T | CA493393312 | CREBBP | c.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 |
16 | g.3727920A>C | CA394550475 | CREBBP | c.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) | |
16 | g.3727920A>G | CA394550476 | CREBBP | c.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 |
16 | g.3727920A>T | CA394550477 | CREBBP | c.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 |
16 | g.3727921C>A | CA394550478 | CREBBP | c.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 |
16 | g.3727921C= | CA2202928404 | CREBBP | c.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=) | |
16 | g.3727921C>G | CA394550479 | CREBBP | c.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 |
16 | g.3727921C>T | CA276971085 | CREBBP | c.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 |
16 | g.3727922G>A | CA7868947 | CREBBP | c.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 |
16 | g.3727922G>C | CA394550480 | CREBBP | c.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 |
16 | g.3727922G= | CA2202928405 | CREBBP | c.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=) | |
16 | g.3727922G>T | CA394550481 | CREBBP | c.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 |
16 | g.3727923T>A | CA394550482 | CREBBP | c.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) | |
16 | g.3727923T>C | CA394550483 | CREBBP | c.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) | |
16 | g.3727923T>G | CA394550484 | CREBBP | c.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) | |
16 | g.3727924G>A | CA394550487 | CREBBP | c.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 |
16 | g.3727924G>C | CA394550485 | CREBBP | c.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) | |
16 | g.3727924G>T | CA394550486 | CREBBP | c.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) | |
16 | g.3727925G>A | CA493393316 | CREBBP | c.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 |
16 | g.3727925G>C | CA394550488 | CREBBP | c.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 |
16 | g.3727925G>T | CA394550489 | CREBBP | c.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 |
16 | g.3727926T>A | CA394550490 | CREBBP | c.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 |
16 | g.3727926T>C | CA394550491 | CREBBP | c.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) | |
16 | g.3727926T>G | CA394550492 | CREBBP | c.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 |
16 | g.3727927G>A | CA394550493 | CREBBP | c.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 |
16 | g.3727927G>C | CA394550495 | CREBBP | c.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) | |
16 | g.3727927G>T | CA394550494 | CREBBP | c.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 |
16 | g.3727928T>A | CA493393319 | CREBBP | c.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=) | |
16 | g.3727928T>C | CA493393320 | CREBBP | c.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 |
16 | g.3727928T>G | CA493393321 | CREBBP | c.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=) | |
16 | g.3727928T= | CA2202928406 | CREBBP | c.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=) | |
16 | g.3727929G>A | CA394550496 | CREBBP | c.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 |
16 | g.3727929G>C | CA394550497 | CREBBP | c.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) | |
16 | g.3727929G= | CA2202928407 | CREBBP | c.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=) | |
16 | g.3727929G>T | CA394550498 | CREBBP | c.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) | |
16 | g.3727930_3727932del | CA2631401294 | CREBBP | c.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 |
16 | g.3727930G>A | CA394550499 | CREBBP | c.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 |
16 | g.3727930G>C | CA394550500 | CREBBP | c.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 |
16 | g.3727930G>T | CA394550501 | CREBBP | c.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 |
16 | g.3727931C>A | CA493393323 | CREBBP | c.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 |
16 | g.3727931C= | CA2202928408 | CREBBP | c.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=) | |
16 | g.3727931C>G | CA493393324 | CREBBP | c.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 |
16 | g.3727931C>T | CA7868948 | CREBBP | c.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 |
16 | g.3727932G>A | CA276971089 | CREBBP | c.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 |
16 | g.3727932G>C | CA394550502 | CREBBP | c.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 |
16 | g.3727932G= | CA2202928409 | CREBBP | c.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=) | |
16 | g.3727932G>T | CA394550503 | CREBBP | c.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 |
16 | g.3727933A>C | CA394550504 | CREBBP | c.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) | |
16 | g.3727933A>G | CA394550506 | CREBBP | c.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 |
16 | g.3727933A>T | CA394550505 | CREBBP | c.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 |
16 | g.3727934A>C | CA493393326 | CREBBP | c.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=) | |
16 | g.3727934A>G | CA493393327 | CREBBP | c.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 |
16 | g.3727934A>T | CA493393328 | CREBBP | c.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 |
16 | g.3727935G>A | CA394550507 | CREBBP | c.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 |
16 | g.3727935G>C | CA394550508 | CREBBP | c.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 |
16 | g.3727935G= | CA2202928410 | CREBBP | c.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=) | |
16 | g.3727935G>T | CA394550509 | CREBBP | c.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 |
16 | g.3727936G>A | CA394550510 | CREBBP | c.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 |
16 | g.3727936G>C | CA394550511 | CREBBP | c.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 |
16 | g.3727936G= | CA2202928411 | CREBBP | c.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=) | |
16 | g.3727936G>T | CA394550512 | CREBBP | c.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 |
16 | g.3727937C>A | CA394550513 | CREBBP | c.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 |
16 | g.3727937C>G | CA394550514 | CREBBP | c.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 |
16 | g.3727937C>T | CA493393330 | CREBBP | c.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 |
16 | g.3727938T>A | CA394550515 | CREBBP | c.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 |
16 | g.3727938T>C | CA394550517 | CREBBP | c.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 |
16 | g.3727938T>G | CA394550516 | CREBBP | c.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) | |
16 | g.3727939G>A | CA394550518 | CREBBP | c.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 |
16 | g.3727939G>C | CA394550519 | CREBBP | c.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) | |
16 | g.3727939G>T | CA394550520 | CREBBP | c.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 |
16 | g.3727940G>A | CA7868949 | CREBBP | c.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 |
16 | g.3727940G>C | CA7868950 | CREBBP | c.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 |
16 | g.3727940G= | CA2202928412 | CREBBP | c.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=) | |
16 | g.3727940G>T | CA493393332 | CREBBP | c.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 |
16 | g.3727941G>A | CA394550521 | CREBBP | c.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 |
16 | g.3727941G>C | CA394550523 | CREBBP | c.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 |
16 | g.3727941G= | CA2202928413 | CREBBP | c.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=) | |
16 | g.3727941G>T | CA394550522 | CREBBP | c.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 |
16 | g.3727942G>A | CA276971099 | CREBBP | c.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 |
16 | g.3727942G>C | CA394550524 | CREBBP | c.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 |
16 | g.3727942G= | CA2202928414 | CREBBP | c.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=) | |
16 | g.3727942G>T | CA394550525 | CREBBP | c.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 |
16 | g.3727943C>A | CA394550526 | CREBBP | c.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 |
16 | g.3727943C= | CA2202928415 | CREBBP | c.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=) | |
16 | g.3727943C>G | CA394550527 | CREBBP | c.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) | |
16 | g.3727943C>T | CA493393334 | CREBBP | c.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 |
16 | g.3727944T>A | CA394550528 | CREBBP | c.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 |
16 | g.3727944T>C | CA394550529 | CREBBP | c.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 |
16 | g.3727944T>G | CA394550530 | CREBBP | c.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 |
16 | g.3727945G>A | CA394550531 | CREBBP | c.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 |
16 | g.3727945G>C | CA394550532 | CREBBP | c.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 |
16 | g.3727945G= | CA2202928416 | CREBBP | c.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=) | |
16 | g.3727945G>T | CA7868951 | CREBBP | c.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 |
16 | g.3727945_3727949dup | CA2580091105 | CREBBP | c.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 |