Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.3727946T>A | CA493393340 | CREBBP | c.7101A>T (p.Ile2367=) c.6987A>T (p.Ile2329=) c.7056A>T (p.Ile2352=) c.6684A>T (p.Ile2228=) c.6840A>T (p.Ile2280=) c.7047A>T (p.Ile2349=) c.6348A>T (p.Ile2116=) c.7095A>T (p.Ile2365=) | dbSNP |
16 | g.3727946T>C | CA7868952 | CREBBP | c.7101A>G (p.Ile2367Met) c.6987A>G (p.Ile2329Met) c.7056A>G (p.Ile2352Met) c.6684A>G (p.Ile2228Met) c.6840A>G (p.Ile2280Met) c.7047A>G (p.Ile2349Met) c.6348A>G (p.Ile2116Met) c.7095A>G (p.Ile2365Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3727946T>G | CA493393338 | CREBBP | c.7101A>C (p.Ile2367=) c.6987A>C (p.Ile2329=) c.7056A>C (p.Ile2352=) c.6684A>C (p.Ile2228=) c.6840A>C (p.Ile2280=) c.7047A>C (p.Ile2349=) c.6348A>C (p.Ile2116=) c.7095A>C (p.Ile2365=) | dbSNP |
16 | g.3727946T= | CA2202928417 | CREBBP | c.7101A= (p.Ile2367=) c.6987A= (p.Ile2329=) c.7056A= (p.Ile2352=) c.6684A= (p.Ile2228=) c.6840A= (p.Ile2280=) c.7047A= (p.Ile2349=) c.6348A= (p.Ile2116=) c.7095A= (p.Ile2365=) | |
16 | g.3727947A>C | CA394550533 | CREBBP | c.7100T>G (p.Ile2367Arg) c.6986T>G (p.Ile2329Arg) c.7055T>G (p.Ile2352Arg) c.6683T>G (p.Ile2228Arg) c.6839T>G (p.Ile2280Arg) c.7046T>G (p.Ile2349Arg) c.6347T>G (p.Ile2116Arg) c.7094T>G (p.Ile2365Arg) | dbSNP |
16 | g.3727947A>G | CA394550535 | CREBBP | c.7100T>C (p.Ile2367Thr) c.6986T>C (p.Ile2329Thr) c.7055T>C (p.Ile2352Thr) c.6683T>C (p.Ile2228Thr) c.6839T>C (p.Ile2280Thr) c.7046T>C (p.Ile2349Thr) c.6347T>C (p.Ile2116Thr) c.7094T>C (p.Ile2365Thr) | |
16 | g.3727947A>T | CA394550534 | CREBBP | c.7100T>A (p.Ile2367Lys) c.6986T>A (p.Ile2329Lys) c.7055T>A (p.Ile2352Lys) c.6683T>A (p.Ile2228Lys) c.6839T>A (p.Ile2280Lys) c.7046T>A (p.Ile2349Lys) c.6347T>A (p.Ile2116Lys) c.7094T>A (p.Ile2365Lys) | dbSNP |
16 | g.3727948T>A | CA394550536 | CREBBP | c.7099A>T (p.Ile2367Leu) c.6985A>T (p.Ile2329Leu) c.7054A>T (p.Ile2352Leu) c.6682A>T (p.Ile2228Leu) c.6838A>T (p.Ile2280Leu) c.7045A>T (p.Ile2349Leu) c.6346A>T (p.Ile2116Leu) c.7093A>T (p.Ile2365Leu) | dbSNP |
16 | g.3727948T>C | CA394550537 | CREBBP | c.7099A>G (p.Ile2367Val) c.6985A>G (p.Ile2329Val) c.7054A>G (p.Ile2352Val) c.6682A>G (p.Ile2228Val) c.6838A>G (p.Ile2280Val) c.7045A>G (p.Ile2349Val) c.6346A>G (p.Ile2116Val) c.7093A>G (p.Ile2365Val) | dbSNP |
16 | g.3727948T>G | CA394550538 | CREBBP | c.7099A>C (p.Ile2367Leu) c.6985A>C (p.Ile2329Leu) c.7054A>C (p.Ile2352Leu) c.6682A>C (p.Ile2228Leu) c.6838A>C (p.Ile2280Leu) c.7045A>C (p.Ile2349Leu) c.6346A>C (p.Ile2116Leu) c.7093A>C (p.Ile2365Leu) | dbSNP |
16 | g.3727949C>A | CA493393341 | CREBBP | c.7098G>T (p.Arg2366=) c.6984G>T (p.Arg2328=) c.7053G>T (p.Arg2351=) c.6681G>T (p.Arg2227=) c.6837G>T (p.Arg2279=) c.7044G>T (p.Arg2348=) c.6345G>T (p.Arg2115=) c.7092G>T (p.Arg2364=) | dbSNP gnomAD v4 |
16 | g.3727949C= | CA2202928418 | CREBBP | c.7098G= (p.Arg2366=) c.6984G= (p.Arg2328=) c.7053G= (p.Arg2351=) c.6681G= (p.Arg2227=) c.6837G= (p.Arg2279=) c.7044G= (p.Arg2348=) c.6345G= (p.Arg2115=) c.7092G= (p.Arg2364=) | |
16 | g.3727949C>G | CA171808 | CREBBP | c.7098G>C (p.Arg2366=) c.6984G>C (p.Arg2328=) c.7053G>C (p.Arg2351=) c.6681G>C (p.Arg2227=) c.6837G>C (p.Arg2279=) c.7044G>C (p.Arg2348=) c.6345G>C (p.Arg2115=) c.7092G>C (p.Arg2364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3727949C>T | CA493393343 | CREBBP | c.7098G>A (p.Arg2366=) c.6984G>A (p.Arg2328=) c.7053G>A (p.Arg2351=) c.6681G>A (p.Arg2227=) c.6837G>A (p.Arg2279=) c.7044G>A (p.Arg2348=) c.6345G>A (p.Arg2115=) c.7092G>A (p.Arg2364=) | dbSNP COSMIC |
16 | g.3727950C>A | CA394550539 | CREBBP | c.7097G>T (p.Arg2366Leu) c.6983G>T (p.Arg2328Leu) c.7052G>T (p.Arg2351Leu) c.6680G>T (p.Arg2227Leu) c.6836G>T (p.Arg2279Leu) c.7043G>T (p.Arg2348Leu) c.6344G>T (p.Arg2115Leu) c.7091G>T (p.Arg2364Leu) | dbSNP |
16 | g.3727950C= | CA2202928419 | CREBBP | c.7097G= (p.Arg2366=) c.6983G= (p.Arg2328=) c.7052G= (p.Arg2351=) c.6680G= (p.Arg2227=) c.6836G= (p.Arg2279=) c.7043G= (p.Arg2348=) c.6344G= (p.Arg2115=) c.7091G= (p.Arg2364=) | |
16 | g.3727950C>G | CA394550540 | CREBBP | c.7097G>C (p.Arg2366Pro) c.6983G>C (p.Arg2328Pro) c.7052G>C (p.Arg2351Pro) c.6680G>C (p.Arg2227Pro) c.6836G>C (p.Arg2279Pro) c.7043G>C (p.Arg2348Pro) c.6344G>C (p.Arg2115Pro) c.7091G>C (p.Arg2364Pro) | dbSNP |
16 | g.3727950C>T | CA394550541 | CREBBP | c.7097G>A (p.Arg2366Gln) c.6983G>A (p.Arg2328Gln) c.7052G>A (p.Arg2351Gln) c.6680G>A (p.Arg2227Gln) c.6836G>A (p.Arg2279Gln) c.7043G>A (p.Arg2348Gln) c.6344G>A (p.Arg2115Gln) c.7091G>A (p.Arg2364Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3727951G>A | CA394550542 | CREBBP | c.7096C>T (p.Arg2366Trp) c.6982C>T (p.Arg2328Trp) c.7051C>T (p.Arg2351Trp) c.6679C>T (p.Arg2227Trp) c.6835C>T (p.Arg2279Trp) c.7042C>T (p.Arg2348Trp) c.6343C>T (p.Arg2115Trp) c.7090C>T (p.Arg2364Trp) | dbSNP gnomAD v4 |
16 | g.3727951G>C | CA394550543 | CREBBP | c.7096C>G (p.Arg2366Gly) c.6982C>G (p.Arg2328Gly) c.7051C>G (p.Arg2351Gly) c.6679C>G (p.Arg2227Gly) c.6835C>G (p.Arg2279Gly) c.7042C>G (p.Arg2348Gly) c.6343C>G (p.Arg2115Gly) c.7090C>G (p.Arg2364Gly) | dbSNP |
16 | g.3727951G>T | CA493393344 | CREBBP | c.7096C>A (p.Arg2366=) c.6982C>A (p.Arg2328=) c.7051C>A (p.Arg2351=) c.6679C>A (p.Arg2227=) c.6835C>A (p.Arg2279=) c.7042C>A (p.Arg2348=) c.6343C>A (p.Arg2115=) c.7090C>A (p.Arg2364=) | |
16 | g.3727952T>A | CA493393346 | CREBBP | c.7095A>T (p.Pro2365=) c.6981A>T (p.Pro2327=) c.7050A>T (p.Pro2350=) c.6678A>T (p.Pro2226=) c.6834A>T (p.Pro2278=) c.7041A>T (p.Pro2347=) c.6342A>T (p.Pro2114=) c.7089A>T (p.Pro2363=) | |
16 | g.3727952T>C | CA493393345 | CREBBP | c.7095A>G (p.Pro2365=) c.6981A>G (p.Pro2327=) c.7050A>G (p.Pro2350=) c.6678A>G (p.Pro2226=) c.6834A>G (p.Pro2278=) c.7041A>G (p.Pro2347=) c.6342A>G (p.Pro2114=) c.7089A>G (p.Pro2363=) | |
16 | g.3727952T>G | CA493393347 | CREBBP | c.7095A>C (p.Pro2365=) c.6981A>C (p.Pro2327=) c.7050A>C (p.Pro2350=) c.6678A>C (p.Pro2226=) c.6834A>C (p.Pro2278=) c.7041A>C (p.Pro2347=) c.6342A>C (p.Pro2114=) c.7089A>C (p.Pro2363=) | |
16 | g.3727953G>A | CA394550544 | CREBBP | c.7094C>T (p.Pro2365Leu) c.6980C>T (p.Pro2327Leu) c.7049C>T (p.Pro2350Leu) c.6677C>T (p.Pro2226Leu) c.6833C>T (p.Pro2278Leu) c.7040C>T (p.Pro2347Leu) c.6341C>T (p.Pro2114Leu) c.7088C>T (p.Pro2363Leu) | dbSNP |
16 | g.3727953G>C | CA394550545 | CREBBP | c.7094C>G (p.Pro2365Arg) c.6980C>G (p.Pro2327Arg) c.7049C>G (p.Pro2350Arg) c.6677C>G (p.Pro2226Arg) c.6833C>G (p.Pro2278Arg) c.7040C>G (p.Pro2347Arg) c.6341C>G (p.Pro2114Arg) c.7088C>G (p.Pro2363Arg) | dbSNP |
16 | g.3727953G= | CA2202928420 | CREBBP | c.7094C= (p.Pro2365=) c.6980C= (p.Pro2327=) c.7049C= (p.Pro2350=) c.6677C= (p.Pro2226=) c.6833C= (p.Pro2278=) c.7040C= (p.Pro2347=) c.6341C= (p.Pro2114=) c.7088C= (p.Pro2363=) | |
16 | g.3727953G>T | CA394550546 | CREBBP | c.7094C>A (p.Pro2365Gln) c.6980C>A (p.Pro2327Gln) c.7049C>A (p.Pro2350Gln) c.6677C>A (p.Pro2226Gln) c.6833C>A (p.Pro2278Gln) c.7040C>A (p.Pro2347Gln) c.6341C>A (p.Pro2114Gln) c.7088C>A (p.Pro2363Gln) | |
16 | g.3727954del | CA2731844847 | CREBBP | c.7094del (p.Pro2365HisfsTer?) c.6980del (p.Pro2327HisfsTer?) c.7049del (p.Pro2350HisfsTer?) c.6677del (p.Pro2226HisfsTer?) c.6833del (p.Pro2278HisfsTer?) c.7040del (p.Pro2347HisfsTer?) c.6341del (p.Pro2114HisfsTer?) c.7088del (p.Pro2363HisfsTer?) | dbSNP |
16 | g.3727954G>A | CA394550548 | CREBBP | c.7093C>T (p.Pro2365Ser) c.6979C>T (p.Pro2327Ser) c.7048C>T (p.Pro2350Ser) c.6676C>T (p.Pro2226Ser) c.6832C>T (p.Pro2278Ser) c.7039C>T (p.Pro2347Ser) c.6340C>T (p.Pro2114Ser) c.7087C>T (p.Pro2363Ser) | dbSNP gnomAD v4 |
16 | g.3727954G>C | CA394550549 | CREBBP | c.7093C>G (p.Pro2365Ala) c.6979C>G (p.Pro2327Ala) c.7048C>G (p.Pro2350Ala) c.6676C>G (p.Pro2226Ala) c.6832C>G (p.Pro2278Ala) c.7039C>G (p.Pro2347Ala) c.6340C>G (p.Pro2114Ala) c.7087C>G (p.Pro2363Ala) | dbSNP |
16 | g.3727954G>T | CA394550547 | CREBBP | c.7093C>A (p.Pro2365Thr) c.6979C>A (p.Pro2327Thr) c.7048C>A (p.Pro2350Thr) c.6676C>A (p.Pro2226Thr) c.6832C>A (p.Pro2278Thr) c.7039C>A (p.Pro2347Thr) c.6340C>A (p.Pro2114Thr) c.7087C>A (p.Pro2363Thr) | dbSNP |
16 | g.3727955T>A | CA493393348 | CREBBP | c.7092A>T (p.Ser2364=) c.6978A>T (p.Ser2326=) c.7047A>T (p.Ser2349=) c.6675A>T (p.Ser2225=) c.6831A>T (p.Ser2277=) c.7038A>T (p.Ser2346=) c.6339A>T (p.Ser2113=) c.7086A>T (p.Ser2362=) | |
16 | g.3727955T>C | CA493393349 | CREBBP | c.7092A>G (p.Ser2364=) c.6978A>G (p.Ser2326=) c.7047A>G (p.Ser2349=) c.6675A>G (p.Ser2225=) c.6831A>G (p.Ser2277=) c.7038A>G (p.Ser2346=) c.6339A>G (p.Ser2113=) c.7086A>G (p.Ser2362=) | gnomAD v4 |
16 | g.3727955T>G | CA493393350 | CREBBP | c.7092A>C (p.Ser2364=) c.6978A>C (p.Ser2326=) c.7047A>C (p.Ser2349=) c.6675A>C (p.Ser2225=) c.6831A>C (p.Ser2277=) c.7038A>C (p.Ser2346=) c.6339A>C (p.Ser2113=) c.7086A>C (p.Ser2362=) | |
16 | g.3727956G>A | CA394550550 | CREBBP | c.7091C>T (p.Ser2364Leu) c.6977C>T (p.Ser2326Leu) c.7046C>T (p.Ser2349Leu) c.6674C>T (p.Ser2225Leu) c.6830C>T (p.Ser2277Leu) c.7037C>T (p.Ser2346Leu) c.6338C>T (p.Ser2113Leu) c.7085C>T (p.Ser2362Leu) | dbSNP |
16 | g.3727956G>C | CA394550551 | CREBBP | c.7091C>G (p.Ser2364Ter) c.6977C>G (p.Ser2326Ter) c.7046C>G (p.Ser2349Ter) c.6674C>G (p.Ser2225Ter) c.6830C>G (p.Ser2277Ter) c.7037C>G (p.Ser2346Ter) c.6338C>G (p.Ser2113Ter) c.7085C>G (p.Ser2362Ter) | |
16 | g.3727956G>T | CA394550552 | CREBBP | c.7091C>A (p.Ser2364Ter) c.6977C>A (p.Ser2326Ter) c.7046C>A (p.Ser2349Ter) c.6674C>A (p.Ser2225Ter) c.6830C>A (p.Ser2277Ter) c.7037C>A (p.Ser2346Ter) c.6338C>A (p.Ser2113Ter) c.7085C>A (p.Ser2362Ter) | dbSNP |
16 | g.3727957A>C | CA394550553 | CREBBP | c.7090T>G (p.Ser2364Ala) c.6976T>G (p.Ser2326Ala) c.7045T>G (p.Ser2349Ala) c.6673T>G (p.Ser2225Ala) c.6829T>G (p.Ser2277Ala) c.7036T>G (p.Ser2346Ala) c.6337T>G (p.Ser2113Ala) c.7084T>G (p.Ser2362Ala) | dbSNP |
16 | g.3727957A>G | CA394550554 | CREBBP | c.7090T>C (p.Ser2364Pro) c.6976T>C (p.Ser2326Pro) c.7045T>C (p.Ser2349Pro) c.6673T>C (p.Ser2225Pro) c.6829T>C (p.Ser2277Pro) c.7036T>C (p.Ser2346Pro) c.6337T>C (p.Ser2113Pro) c.7084T>C (p.Ser2362Pro) | dbSNP gnomAD v4 |
16 | g.3727957A>T | CA394550555 | CREBBP | c.7090T>A (p.Ser2364Thr) c.6976T>A (p.Ser2326Thr) c.7045T>A (p.Ser2349Thr) c.6673T>A (p.Ser2225Thr) c.6829T>A (p.Ser2277Thr) c.7036T>A (p.Ser2346Thr) c.6337T>A (p.Ser2113Thr) c.7084T>A (p.Ser2362Thr) | dbSNP |
16 | g.3727958C>A | CA493393353 | CREBBP | c.7089G>T (p.Pro2363=) c.6975G>T (p.Pro2325=) c.7044G>T (p.Pro2348=) c.6672G>T (p.Pro2224=) c.6828G>T (p.Pro2276=) c.7035G>T (p.Pro2345=) c.6336G>T (p.Pro2112=) c.7083G>T (p.Pro2361=) | dbSNP |
16 | g.3727958C= | CA2202928421 | CREBBP | c.7089G= (p.Pro2363=) c.6975G= (p.Pro2325=) c.7044G= (p.Pro2348=) c.6672G= (p.Pro2224=) c.6828G= (p.Pro2276=) c.7035G= (p.Pro2345=) c.6336G= (p.Pro2112=) c.7083G= (p.Pro2361=) | |
16 | g.3727958C>G | CA493393354 | CREBBP | c.7089G>C (p.Pro2363=) c.6975G>C (p.Pro2325=) c.7044G>C (p.Pro2348=) c.6672G>C (p.Pro2224=) c.6828G>C (p.Pro2276=) c.7035G>C (p.Pro2345=) c.6336G>C (p.Pro2112=) c.7083G>C (p.Pro2361=) | dbSNP |
16 | g.3727958C>T | CA7868953 | CREBBP | c.7089G>A (p.Pro2363=) c.6975G>A (p.Pro2325=) c.7044G>A (p.Pro2348=) c.6672G>A (p.Pro2224=) c.6828G>A (p.Pro2276=) c.7035G>A (p.Pro2345=) c.6336G>A (p.Pro2112=) c.7083G>A (p.Pro2361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3727959G>A | CA394550556 | CREBBP | c.7088C>T (p.Pro2363Leu) c.6974C>T (p.Pro2325Leu) c.7043C>T (p.Pro2348Leu) c.6671C>T (p.Pro2224Leu) c.6827C>T (p.Pro2276Leu) c.7034C>T (p.Pro2345Leu) c.6335C>T (p.Pro2112Leu) c.7082C>T (p.Pro2361Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3727959G>C | CA394550557 | CREBBP | c.7088C>G (p.Pro2363Arg) c.6974C>G (p.Pro2325Arg) c.7043C>G (p.Pro2348Arg) c.6671C>G (p.Pro2224Arg) c.6827C>G (p.Pro2276Arg) c.7034C>G (p.Pro2345Arg) c.6335C>G (p.Pro2112Arg) c.7082C>G (p.Pro2361Arg) | dbSNP |
16 | g.3727959G= | CA2202928422 | CREBBP | c.7088C= (p.Pro2363=) c.6974C= (p.Pro2325=) c.7043C= (p.Pro2348=) c.6671C= (p.Pro2224=) c.6827C= (p.Pro2276=) c.7034C= (p.Pro2345=) c.6335C= (p.Pro2112=) c.7082C= (p.Pro2361=) | |
16 | g.3727959G>T | CA394550558 | CREBBP | c.7088C>A (p.Pro2363Gln) c.6974C>A (p.Pro2325Gln) c.7043C>A (p.Pro2348Gln) c.6671C>A (p.Pro2224Gln) c.6827C>A (p.Pro2276Gln) c.7034C>A (p.Pro2345Gln) c.6335C>A (p.Pro2112Gln) c.7082C>A (p.Pro2361Gln) | dbSNP gnomAD v4 |
16 | g.3727960G>A | CA394550559 | CREBBP | c.7087C>T (p.Pro2363Ser) c.6973C>T (p.Pro2325Ser) c.7042C>T (p.Pro2348Ser) c.6670C>T (p.Pro2224Ser) c.6826C>T (p.Pro2276Ser) c.7033C>T (p.Pro2345Ser) c.6334C>T (p.Pro2112Ser) c.7081C>T (p.Pro2361Ser) | dbSNP |
16 | g.3727960G>C | CA394550560 | CREBBP | c.7087C>G (p.Pro2363Ala) c.6973C>G (p.Pro2325Ala) c.7042C>G (p.Pro2348Ala) c.6670C>G (p.Pro2224Ala) c.6826C>G (p.Pro2276Ala) c.7033C>G (p.Pro2345Ala) c.6334C>G (p.Pro2112Ala) c.7081C>G (p.Pro2361Ala) | dbSNP |
16 | g.3727960G>T | CA394550561 | CREBBP | c.7087C>A (p.Pro2363Thr) c.6973C>A (p.Pro2325Thr) c.7042C>A (p.Pro2348Thr) c.6670C>A (p.Pro2224Thr) c.6826C>A (p.Pro2276Thr) c.7033C>A (p.Pro2345Thr) c.6334C>A (p.Pro2112Thr) c.7081C>A (p.Pro2361Thr) | dbSNP |
16 | g.3727961G>A | CA7868954 | CREBBP | c.7086C>T (p.Ser2362=) c.6972C>T (p.Ser2324=) c.7041C>T (p.Ser2347=) c.6669C>T (p.Ser2223=) c.6825C>T (p.Ser2275=) c.7032C>T (p.Ser2344=) c.6333C>T (p.Ser2111=) c.7080C>T (p.Ser2360=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3727961G>C | CA394550563 | CREBBP | c.7086C>G (p.Ser2362Arg) c.6972C>G (p.Ser2324Arg) c.7041C>G (p.Ser2347Arg) c.6669C>G (p.Ser2223Arg) c.6825C>G (p.Ser2275Arg) c.7032C>G (p.Ser2344Arg) c.6333C>G (p.Ser2111Arg) c.7080C>G (p.Ser2360Arg) | dbSNP |
16 | g.3727961G= | CA2202928423 | CREBBP | c.7086C= (p.Ser2362=) c.6972C= (p.Ser2324=) c.7041C= (p.Ser2347=) c.6669C= (p.Ser2223=) c.6825C= (p.Ser2275=) c.7032C= (p.Ser2344=) c.6333C= (p.Ser2111=) c.7080C= (p.Ser2360=) | |
16 | g.3727961G>T | CA394550562 | CREBBP | c.7086C>A (p.Ser2362Arg) c.6972C>A (p.Ser2324Arg) c.7041C>A (p.Ser2347Arg) c.6669C>A (p.Ser2223Arg) c.6825C>A (p.Ser2275Arg) c.7032C>A (p.Ser2344Arg) c.6333C>A (p.Ser2111Arg) c.7080C>A (p.Ser2360Arg) | dbSNP |
16 | g.3727962C>A | CA394550564 | CREBBP | c.7085G>T (p.Ser2362Ile) c.6971G>T (p.Ser2324Ile) c.7040G>T (p.Ser2347Ile) c.6668G>T (p.Ser2223Ile) c.6824G>T (p.Ser2275Ile) c.7031G>T (p.Ser2344Ile) c.6332G>T (p.Ser2111Ile) c.7079G>T (p.Ser2360Ile) | |
16 | g.3727962C>G | CA394550565 | CREBBP | c.7085G>C (p.Ser2362Thr) c.6971G>C (p.Ser2324Thr) c.7040G>C (p.Ser2347Thr) c.6668G>C (p.Ser2223Thr) c.6824G>C (p.Ser2275Thr) c.7031G>C (p.Ser2344Thr) c.6332G>C (p.Ser2111Thr) c.7079G>C (p.Ser2360Thr) | |
16 | g.3727962C>T | CA394550566 | CREBBP | c.7085G>A (p.Ser2362Asn) c.6971G>A (p.Ser2324Asn) c.7040G>A (p.Ser2347Asn) c.6668G>A (p.Ser2223Asn) c.6824G>A (p.Ser2275Asn) c.7031G>A (p.Ser2344Asn) c.6332G>A (p.Ser2111Asn) c.7079G>A (p.Ser2360Asn) | gnomAD v4 |
16 | g.3727963T>A | CA394550567 | CREBBP | c.7084A>T (p.Ser2362Cys) c.6970A>T (p.Ser2324Cys) c.7039A>T (p.Ser2347Cys) c.6667A>T (p.Ser2223Cys) c.6823A>T (p.Ser2275Cys) c.7030A>T (p.Ser2344Cys) c.6331A>T (p.Ser2111Cys) c.7078A>T (p.Ser2360Cys) | |
16 | g.3727963T>C | CA394550568 | CREBBP | c.7084A>G (p.Ser2362Gly) c.6970A>G (p.Ser2324Gly) c.7039A>G (p.Ser2347Gly) c.6667A>G (p.Ser2223Gly) c.6823A>G (p.Ser2275Gly) c.7030A>G (p.Ser2344Gly) c.6331A>G (p.Ser2111Gly) c.7078A>G (p.Ser2360Gly) | gnomAD v4 |
16 | g.3727963T>G | CA394550569 | CREBBP | c.7084A>C (p.Ser2362Arg) c.6970A>C (p.Ser2324Arg) c.7039A>C (p.Ser2347Arg) c.6667A>C (p.Ser2223Arg) c.6823A>C (p.Ser2275Arg) c.7030A>C (p.Ser2344Arg) c.6331A>C (p.Ser2111Arg) c.7078A>C (p.Ser2360Arg) | |
16 | g.3727964G>A | CA493393358 | CREBBP | c.7083C>T (p.Ser2361=) c.6969C>T (p.Ser2323=) c.7038C>T (p.Ser2346=) c.6666C>T (p.Ser2222=) c.6822C>T (p.Ser2274=) c.7029C>T (p.Ser2343=) c.6330C>T (p.Ser2110=) c.7077C>T (p.Ser2359=) | |
16 | g.3727964G>C | CA493393359 | CREBBP | c.7083C>G (p.Ser2361=) c.6969C>G (p.Ser2323=) c.7038C>G (p.Ser2346=) c.6666C>G (p.Ser2222=) c.6822C>G (p.Ser2274=) c.7029C>G (p.Ser2343=) c.6330C>G (p.Ser2110=) c.7077C>G (p.Ser2359=) | |
16 | g.3727964G>T | CA493393361 | CREBBP | c.7083C>A (p.Ser2361=) c.6969C>A (p.Ser2323=) c.7038C>A (p.Ser2346=) c.6666C>A (p.Ser2222=) c.6822C>A (p.Ser2274=) c.7029C>A (p.Ser2343=) c.6330C>A (p.Ser2110=) c.7077C>A (p.Ser2359=) | |
16 | g.3727965G>A | CA394550572 | CREBBP | c.7082C>T (p.Ser2361Phe) c.6968C>T (p.Ser2323Phe) c.7037C>T (p.Ser2346Phe) c.6665C>T (p.Ser2222Phe) c.6821C>T (p.Ser2274Phe) c.7028C>T (p.Ser2343Phe) c.6329C>T (p.Ser2110Phe) c.7076C>T (p.Ser2359Phe) | dbSNP COSMIC |
16 | g.3727965G>C | CA394550570 | CREBBP | c.7082C>G (p.Ser2361Cys) c.6968C>G (p.Ser2323Cys) c.7037C>G (p.Ser2346Cys) c.6665C>G (p.Ser2222Cys) c.6821C>G (p.Ser2274Cys) c.7028C>G (p.Ser2343Cys) c.6329C>G (p.Ser2110Cys) c.7076C>G (p.Ser2359Cys) | ClinVar dbSNP |
16 | g.3727965G>T | CA394550571 | CREBBP | c.7082C>A (p.Ser2361Tyr) c.6968C>A (p.Ser2323Tyr) c.7037C>A (p.Ser2346Tyr) c.6665C>A (p.Ser2222Tyr) c.6821C>A (p.Ser2274Tyr) c.7028C>A (p.Ser2343Tyr) c.6329C>A (p.Ser2110Tyr) c.7076C>A (p.Ser2359Tyr) | dbSNP |
16 | g.3727966A>C | CA394550573 | CREBBP | c.7081T>G (p.Ser2361Ala) c.6967T>G (p.Ser2323Ala) c.7036T>G (p.Ser2346Ala) c.6664T>G (p.Ser2222Ala) c.6820T>G (p.Ser2274Ala) c.7027T>G (p.Ser2343Ala) c.6328T>G (p.Ser2110Ala) c.7075T>G (p.Ser2359Ala) | |
16 | g.3727966A>G | CA394550574 | CREBBP | c.7081T>C (p.Ser2361Pro) c.6967T>C (p.Ser2323Pro) c.7036T>C (p.Ser2346Pro) c.6664T>C (p.Ser2222Pro) c.6820T>C (p.Ser2274Pro) c.7027T>C (p.Ser2343Pro) c.6328T>C (p.Ser2110Pro) c.7075T>C (p.Ser2359Pro) | dbSNP |
16 | g.3727966A>T | CA394550575 | CREBBP | c.7081T>A (p.Ser2361Thr) c.6967T>A (p.Ser2323Thr) c.7036T>A (p.Ser2346Thr) c.6664T>A (p.Ser2222Thr) c.6820T>A (p.Ser2274Thr) c.7027T>A (p.Ser2343Thr) c.6328T>A (p.Ser2110Thr) c.7075T>A (p.Ser2359Thr) | |
16 | g.3727967A= | CA2202928424 | CREBBP | c.7080T= (p.His2360=) c.6966T= (p.His2322=) c.7035T= (p.His2345=) c.6663T= (p.His2221=) c.6819T= (p.His2273=) c.7026T= (p.His2342=) c.6327T= (p.His2109=) c.7074T= (p.His2358=) | |
16 | g.3727967A>C | CA394550576 | CREBBP | c.7080T>G (p.His2360Gln) c.6966T>G (p.His2322Gln) c.7035T>G (p.His2345Gln) c.6663T>G (p.His2221Gln) c.6819T>G (p.His2273Gln) c.7026T>G (p.His2342Gln) c.6327T>G (p.His2109Gln) c.7074T>G (p.His2358Gln) | |
16 | g.3727967A>G | CA493393364 | CREBBP | c.7080T>C (p.His2360=) c.6966T>C (p.His2322=) c.7035T>C (p.His2345=) c.6663T>C (p.His2221=) c.6819T>C (p.His2273=) c.7026T>C (p.His2342=) c.6327T>C (p.His2109=) c.7074T>C (p.His2358=) | dbSNP gnomAD v4 |
16 | g.3727967A>T | CA394550577 | CREBBP | c.7080T>A (p.His2360Gln) c.6966T>A (p.His2322Gln) c.7035T>A (p.His2345Gln) c.6663T>A (p.His2221Gln) c.6819T>A (p.His2273Gln) c.7026T>A (p.His2342Gln) c.6327T>A (p.His2109Gln) c.7074T>A (p.His2358Gln) | dbSNP |
16 | g.3727968T>A | CA394550580 | CREBBP | c.7079A>T (p.His2360Leu) c.6965A>T (p.His2322Leu) c.7034A>T (p.His2345Leu) c.6662A>T (p.His2221Leu) c.6818A>T (p.His2273Leu) c.7025A>T (p.His2342Leu) c.6326A>T (p.His2109Leu) c.7073A>T (p.His2358Leu) | dbSNP |
16 | g.3727968T>C | CA394550578 | CREBBP | c.7079A>G (p.His2360Arg) c.6965A>G (p.His2322Arg) c.7034A>G (p.His2345Arg) c.6662A>G (p.His2221Arg) c.6818A>G (p.His2273Arg) c.7025A>G (p.His2342Arg) c.6326A>G (p.His2109Arg) c.7073A>G (p.His2358Arg) | |
16 | g.3727968T>G | CA394550579 | CREBBP | c.7079A>C (p.His2360Pro) c.6965A>C (p.His2322Pro) c.7034A>C (p.His2345Pro) c.6662A>C (p.His2221Pro) c.6818A>C (p.His2273Pro) c.7025A>C (p.His2342Pro) c.6326A>C (p.His2109Pro) c.7073A>C (p.His2358Pro) | dbSNP |
16 | g.3727968_3727989delinsTGTGGAGGCTGGGACTGGGGCC | CA2202928425 | CREBBP | c.7058_7079delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2353=) c.6944_6965delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2315=) c.7013_7034delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2338=) c.6641_6662delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2214=) c.6797_6818delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2266=) c.7004_7025delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2335=) c.6305_6326delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2102=) c.7052_7073delinsGGCCCCAGTCCCAGCCTCCACA (p.Arg2351=) | |
16 | g.3727969G>A | CA394550581 | CREBBP | c.7078C>T (p.His2360Tyr) c.6964C>T (p.His2322Tyr) c.7033C>T (p.His2345Tyr) c.6661C>T (p.His2221Tyr) c.6817C>T (p.His2273Tyr) c.7024C>T (p.His2342Tyr) c.6325C>T (p.His2109Tyr) c.7072C>T (p.His2358Tyr) | dbSNP gnomAD v4 |
16 | g.3727969G>C | CA394550582 | CREBBP | c.7078C>G (p.His2360Asp) c.6964C>G (p.His2322Asp) c.7033C>G (p.His2345Asp) c.6661C>G (p.His2221Asp) c.6817C>G (p.His2273Asp) c.7024C>G (p.His2342Asp) c.6325C>G (p.His2109Asp) c.7072C>G (p.His2358Asp) | |
16 | g.3727969G= | CA2202928427 | CREBBP | c.7078C= (p.His2360=) c.6964C= (p.His2322=) c.7033C= (p.His2345=) c.6661C= (p.His2221=) c.6817C= (p.His2273=) c.7024C= (p.His2342=) c.6325C= (p.His2109=) c.7072C= (p.His2358=) | |
16 | g.3727969G>T | CA394550583 | CREBBP | c.7078C>A (p.His2360Asn) c.6964C>A (p.His2322Asn) c.7033C>A (p.His2345Asn) c.6661C>A (p.His2221Asn) c.6817C>A (p.His2273Asn) c.7024C>A (p.His2342Asn) c.6325C>A (p.His2109Asn) c.7072C>A (p.His2358Asn) | |
16 | g.3727975_3727995dup | CA2202928426 | CREBBP | c.7058_7078dup (p.Pro2359_His2360insArgProGlnSerGlnProPro) c.6944_6964dup (p.Pro2321_His2322insArgProGlnSerGlnProPro) c.7013_7033dup (p.Pro2344_His2345insArgProGlnSerGlnProPro) c.6641_6661dup (p.Pro2220_His2221insArgProGlnSerGlnProPro) c.6797_6817dup (p.Pro2272_His2273insArgProGlnSerGlnProPro) c.7004_7024dup (p.Pro2341_His2342insArgProGlnSerGlnProPro) c.6305_6325dup (p.Pro2108_His2109insArgProGlnSerGlnProPro) c.7052_7072dup (p.Pro2357_His2358insArgProGlnSerGlnProPro) | dbSNP |
16 | g.3727975_3727995del | CA7868955 | CREBBP | c.7058_7078del (p.Arg2353_Pro2359del) c.6944_6964del (p.Arg2315_Pro2321del) c.7013_7033del (p.Arg2338_Pro2344del) c.6641_6661del (p.Arg2214_Pro2220del) c.6797_6817del (p.Arg2266_Pro2272del) c.7004_7024del (p.Arg2335_Pro2341del) c.6305_6325del (p.Arg2102_Pro2108del) c.7052_7072del (p.Arg2351_Pro2357del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3727970T>A | CA493393368 | CREBBP | c.7077A>T (p.Pro2359=) c.6963A>T (p.Pro2321=) c.7032A>T (p.Pro2344=) c.6660A>T (p.Pro2220=) c.6816A>T (p.Pro2272=) c.7023A>T (p.Pro2341=) c.6324A>T (p.Pro2108=) c.7071A>T (p.Pro2357=) | |
16 | g.3727970T>C | CA493393369 | CREBBP | c.7077A>G (p.Pro2359=) c.6963A>G (p.Pro2321=) c.7032A>G (p.Pro2344=) c.6660A>G (p.Pro2220=) c.6816A>G (p.Pro2272=) c.7023A>G (p.Pro2341=) c.6324A>G (p.Pro2108=) c.7071A>G (p.Pro2357=) | |
16 | g.3727970T>G | CA493393370 | CREBBP | c.7077A>C (p.Pro2359=) c.6963A>C (p.Pro2321=) c.7032A>C (p.Pro2344=) c.6660A>C (p.Pro2220=) c.6816A>C (p.Pro2272=) c.7023A>C (p.Pro2341=) c.6324A>C (p.Pro2108=) c.7071A>C (p.Pro2357=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3727970T= | CA2202928428 | CREBBP | c.7077A= (p.Pro2359=) c.6963A= (p.Pro2321=) c.7032A= (p.Pro2344=) c.6660A= (p.Pro2220=) c.6816A= (p.Pro2272=) c.7023A= (p.Pro2341=) c.6324A= (p.Pro2108=) c.7071A= (p.Pro2357=) | |
16 | g.3727971G>A | CA394550584 | CREBBP | c.7076C>T (p.Pro2359Leu) c.6962C>T (p.Pro2321Leu) c.7031C>T (p.Pro2344Leu) c.6659C>T (p.Pro2220Leu) c.6815C>T (p.Pro2272Leu) c.7022C>T (p.Pro2341Leu) c.6323C>T (p.Pro2108Leu) c.7070C>T (p.Pro2357Leu) | dbSNP gnomAD v4 |
16 | g.3727971G>C | CA394550585 | CREBBP | c.7076C>G (p.Pro2359Arg) c.6962C>G (p.Pro2321Arg) c.7031C>G (p.Pro2344Arg) c.6659C>G (p.Pro2220Arg) c.6815C>G (p.Pro2272Arg) c.7022C>G (p.Pro2341Arg) c.6323C>G (p.Pro2108Arg) c.7070C>G (p.Pro2357Arg) | dbSNP |
16 | g.3727971G>T | CA394550587 | CREBBP | c.7076C>A (p.Pro2359Gln) c.6962C>A (p.Pro2321Gln) c.7031C>A (p.Pro2344Gln) c.6659C>A (p.Pro2220Gln) c.6815C>A (p.Pro2272Gln) c.7022C>A (p.Pro2341Gln) c.6323C>A (p.Pro2108Gln) c.7070C>A (p.Pro2357Gln) | |
16 | g.3727972G>A | CA394550590 | CREBBP | c.7075C>T (p.Pro2359Ser) c.6961C>T (p.Pro2321Ser) c.7030C>T (p.Pro2344Ser) c.6658C>T (p.Pro2220Ser) c.6814C>T (p.Pro2272Ser) c.7021C>T (p.Pro2341Ser) c.6322C>T (p.Pro2108Ser) c.7069C>T (p.Pro2357Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3727972G>C | CA394550592 | CREBBP | c.7075C>G (p.Pro2359Ala) c.6961C>G (p.Pro2321Ala) c.7030C>G (p.Pro2344Ala) c.6658C>G (p.Pro2220Ala) c.6814C>G (p.Pro2272Ala) c.7021C>G (p.Pro2341Ala) c.6322C>G (p.Pro2108Ala) c.7069C>G (p.Pro2357Ala) | dbSNP |
16 | g.3727972G= | CA2202928429 | CREBBP | c.7075C= (p.Pro2359=) c.6961C= (p.Pro2321=) c.7030C= (p.Pro2344=) c.6658C= (p.Pro2220=) c.6814C= (p.Pro2272=) c.7021C= (p.Pro2341=) c.6322C= (p.Pro2108=) c.7069C= (p.Pro2357=) | |
16 | g.3727972G>T | CA394550594 | CREBBP | c.7075C>A (p.Pro2359Thr) c.6961C>A (p.Pro2321Thr) c.7030C>A (p.Pro2344Thr) c.6658C>A (p.Pro2220Thr) c.6814C>A (p.Pro2272Thr) c.7021C>A (p.Pro2341Thr) c.6322C>A (p.Pro2108Thr) c.7069C>A (p.Pro2357Thr) | dbSNP |
16 | g.3727973A= | CA2202928430 | CREBBP | c.7074T= (p.Pro2358=) c.6960T= (p.Pro2320=) c.7029T= (p.Pro2343=) c.6657T= (p.Pro2219=) c.6813T= (p.Pro2271=) c.7020T= (p.Pro2340=) c.6321T= (p.Pro2107=) c.7068T= (p.Pro2356=) | |
16 | g.3727973A>C | CA493393376 | CREBBP | c.7074T>G (p.Pro2358=) c.6960T>G (p.Pro2320=) c.7029T>G (p.Pro2343=) c.6657T>G (p.Pro2219=) c.6813T>G (p.Pro2271=) c.7020T>G (p.Pro2340=) c.6321T>G (p.Pro2107=) c.7068T>G (p.Pro2356=) | |
16 | g.3727973A>G | CA493393378 | CREBBP | c.7074T>C (p.Pro2358=) c.6960T>C (p.Pro2320=) c.7029T>C (p.Pro2343=) c.6657T>C (p.Pro2219=) c.6813T>C (p.Pro2271=) c.7020T>C (p.Pro2340=) c.6321T>C (p.Pro2107=) c.7068T>C (p.Pro2356=) | dbSNP |
16 | g.3727973A>T | CA493393377 | CREBBP | c.7074T>A (p.Pro2358=) c.6960T>A (p.Pro2320=) c.7029T>A (p.Pro2343=) c.6657T>A (p.Pro2219=) c.6813T>A (p.Pro2271=) c.7020T>A (p.Pro2340=) c.6321T>A (p.Pro2107=) c.7068T>A (p.Pro2356=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3727974G>A | CA394550595 | CREBBP | c.7073C>T (p.Pro2358Leu) c.6959C>T (p.Pro2320Leu) c.7028C>T (p.Pro2343Leu) c.6656C>T (p.Pro2219Leu) c.6812C>T (p.Pro2271Leu) c.7019C>T (p.Pro2340Leu) c.6320C>T (p.Pro2107Leu) c.7067C>T (p.Pro2356Leu) | |
16 | g.3727974G>C | CA394550596 | CREBBP | c.7073C>G (p.Pro2358Arg) c.6959C>G (p.Pro2320Arg) c.7028C>G (p.Pro2343Arg) c.6656C>G (p.Pro2219Arg) c.6812C>G (p.Pro2271Arg) c.7019C>G (p.Pro2340Arg) c.6320C>G (p.Pro2107Arg) c.7067C>G (p.Pro2356Arg) | dbSNP |
16 | g.3727974G>T | CA394550598 | CREBBP | c.7073C>A (p.Pro2358His) c.6959C>A (p.Pro2320His) c.7028C>A (p.Pro2343His) c.6656C>A (p.Pro2219His) c.6812C>A (p.Pro2271His) c.7019C>A (p.Pro2340His) c.6320C>A (p.Pro2107His) c.7067C>A (p.Pro2356His) | dbSNP |
16 | g.3727975G>A | CA394550599 | CREBBP | c.7072C>T (p.Pro2358Ser) c.6958C>T (p.Pro2320Ser) c.7027C>T (p.Pro2343Ser) c.6655C>T (p.Pro2219Ser) c.6811C>T (p.Pro2271Ser) c.7018C>T (p.Pro2340Ser) c.6319C>T (p.Pro2107Ser) c.7066C>T (p.Pro2356Ser) | dbSNP |
16 | g.3727975G>C | CA394550602 | CREBBP | c.7072C>G (p.Pro2358Ala) c.6958C>G (p.Pro2320Ala) c.7027C>G (p.Pro2343Ala) c.6655C>G (p.Pro2219Ala) c.6811C>G (p.Pro2271Ala) c.7018C>G (p.Pro2340Ala) c.6319C>G (p.Pro2107Ala) c.7066C>G (p.Pro2356Ala) | dbSNP |
16 | g.3727975G= | CA2202928431 | CREBBP | c.7072C= (p.Pro2358=) c.6958C= (p.Pro2320=) c.7027C= (p.Pro2343=) c.6655C= (p.Pro2219=) c.6811C= (p.Pro2271=) c.7018C= (p.Pro2340=) c.6319C= (p.Pro2107=) c.7066C= (p.Pro2356=) | |
16 | g.3727975G>T | CA394550601 | CREBBP | c.7072C>A (p.Pro2358Thr) c.6958C>A (p.Pro2320Thr) c.7027C>A (p.Pro2343Thr) c.6655C>A (p.Pro2219Thr) c.6811C>A (p.Pro2271Thr) c.7018C>A (p.Pro2340Thr) c.6319C>A (p.Pro2107Thr) c.7066C>A (p.Pro2356Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3727976C>A | CA394550604 | CREBBP | c.7071G>T (p.Gln2357His) c.6957G>T (p.Gln2319His) c.7026G>T (p.Gln2342His) c.6654G>T (p.Gln2218His) c.6810G>T (p.Gln2270His) c.7017G>T (p.Gln2339His) c.6318G>T (p.Gln2106His) c.7065G>T (p.Gln2355His) | dbSNP |
16 | g.3727976C>G | CA394550606 | CREBBP | c.7071G>C (p.Gln2357His) c.6957G>C (p.Gln2319His) c.7026G>C (p.Gln2342His) c.6654G>C (p.Gln2218His) c.6810G>C (p.Gln2270His) c.7017G>C (p.Gln2339His) c.6318G>C (p.Gln2106His) c.7065G>C (p.Gln2355His) | dbSNP |
16 | g.3727976C>T | CA493393382 | CREBBP | c.7071G>A (p.Gln2357=) c.6957G>A (p.Gln2319=) c.7026G>A (p.Gln2342=) c.6654G>A (p.Gln2218=) c.6810G>A (p.Gln2270=) c.7017G>A (p.Gln2339=) c.6318G>A (p.Gln2106=) c.7065G>A (p.Gln2355=) | dbSNP |
16 | g.3727977T>A | CA394550608 | CREBBP | c.7070A>T (p.Gln2357Leu) c.6956A>T (p.Gln2319Leu) c.7025A>T (p.Gln2342Leu) c.6653A>T (p.Gln2218Leu) c.6809A>T (p.Gln2270Leu) c.7016A>T (p.Gln2339Leu) c.6317A>T (p.Gln2106Leu) c.7064A>T (p.Gln2355Leu) | |
16 | g.3727977T>C | CA394550609 | CREBBP | c.7070A>G (p.Gln2357Arg) c.6956A>G (p.Gln2319Arg) c.7025A>G (p.Gln2342Arg) c.6653A>G (p.Gln2218Arg) c.6809A>G (p.Gln2270Arg) c.7016A>G (p.Gln2339Arg) c.6317A>G (p.Gln2106Arg) c.7064A>G (p.Gln2355Arg) | |
16 | g.3727977T>G | CA394550611 | CREBBP | c.7070A>C (p.Gln2357Pro) c.6956A>C (p.Gln2319Pro) c.7025A>C (p.Gln2342Pro) c.6653A>C (p.Gln2218Pro) c.6809A>C (p.Gln2270Pro) c.7016A>C (p.Gln2339Pro) c.6317A>C (p.Gln2106Pro) c.7064A>C (p.Gln2355Pro) | |
16 | g.3727978G>A | CA394550614 | CREBBP | c.7069C>T (p.Gln2357Ter) c.6955C>T (p.Gln2319Ter) c.7024C>T (p.Gln2342Ter) c.6652C>T (p.Gln2218Ter) c.6808C>T (p.Gln2270Ter) c.7015C>T (p.Gln2339Ter) c.6316C>T (p.Gln2106Ter) c.7063C>T (p.Gln2355Ter) | |
16 | g.3727978G>C | CA394550615 | CREBBP | c.7069C>G (p.Gln2357Glu) c.6955C>G (p.Gln2319Glu) c.7024C>G (p.Gln2342Glu) c.6652C>G (p.Gln2218Glu) c.6808C>G (p.Gln2270Glu) c.7015C>G (p.Gln2339Glu) c.6316C>G (p.Gln2106Glu) c.7063C>G (p.Gln2355Glu) | gnomAD v4 |
16 | g.3727978G>T | CA394550616 | CREBBP | c.7069C>A (p.Gln2357Lys) c.6955C>A (p.Gln2319Lys) c.7024C>A (p.Gln2342Lys) c.6652C>A (p.Gln2218Lys) c.6808C>A (p.Gln2270Lys) c.7015C>A (p.Gln2339Lys) c.6316C>A (p.Gln2106Lys) c.7063C>A (p.Gln2355Lys) | |
16 | g.3727979G>A | CA493393384 | CREBBP | c.7068C>T (p.Ser2356=) c.6954C>T (p.Ser2318=) c.7023C>T (p.Ser2341=) c.6651C>T (p.Ser2217=) c.6807C>T (p.Ser2269=) c.7014C>T (p.Ser2338=) c.6315C>T (p.Ser2105=) c.7062C>T (p.Ser2354=) | dbSNP gnomAD v4 |
16 | g.3727979G>C | CA493393385 | CREBBP | c.7068C>G (p.Ser2356=) c.6954C>G (p.Ser2318=) c.7023C>G (p.Ser2341=) c.6651C>G (p.Ser2217=) c.6807C>G (p.Ser2269=) c.7014C>G (p.Ser2338=) c.6315C>G (p.Ser2105=) c.7062C>G (p.Ser2354=) | dbSNP |
16 | g.3727979G>T | CA493393386 | CREBBP | c.7068C>A (p.Ser2356=) c.6954C>A (p.Ser2318=) c.7023C>A (p.Ser2341=) c.6651C>A (p.Ser2217=) c.6807C>A (p.Ser2269=) c.7014C>A (p.Ser2338=) c.6315C>A (p.Ser2105=) c.7062C>A (p.Ser2354=) | dbSNP |
16 | g.3727980G>A | CA394550619 | CREBBP | c.7067C>T (p.Ser2356Phe) c.6953C>T (p.Ser2318Phe) c.7022C>T (p.Ser2341Phe) c.6650C>T (p.Ser2217Phe) c.6806C>T (p.Ser2269Phe) c.7013C>T (p.Ser2338Phe) c.6314C>T (p.Ser2105Phe) c.7061C>T (p.Ser2354Phe) | dbSNP COSMIC |
16 | g.3727980G>C | CA394550620 | CREBBP | c.7067C>G (p.Ser2356Cys) c.6953C>G (p.Ser2318Cys) c.7022C>G (p.Ser2341Cys) c.6650C>G (p.Ser2217Cys) c.6806C>G (p.Ser2269Cys) c.7013C>G (p.Ser2338Cys) c.6314C>G (p.Ser2105Cys) c.7061C>G (p.Ser2354Cys) | dbSNP |
16 | g.3727980G>T | CA394550621 | CREBBP | c.7067C>A (p.Ser2356Tyr) c.6953C>A (p.Ser2318Tyr) c.7022C>A (p.Ser2341Tyr) c.6650C>A (p.Ser2217Tyr) c.6806C>A (p.Ser2269Tyr) c.7013C>A (p.Ser2338Tyr) c.6314C>A (p.Ser2105Tyr) c.7061C>A (p.Ser2354Tyr) | |
16 | g.3727981A>C | CA394550626 | CREBBP | c.7066T>G (p.Ser2356Ala) c.6952T>G (p.Ser2318Ala) c.7021T>G (p.Ser2341Ala) c.6649T>G (p.Ser2217Ala) c.6805T>G (p.Ser2269Ala) c.7012T>G (p.Ser2338Ala) c.6313T>G (p.Ser2105Ala) c.7060T>G (p.Ser2354Ala) | dbSNP |
16 | g.3727981A>G | CA394550625 | CREBBP | c.7066T>C (p.Ser2356Pro) c.6952T>C (p.Ser2318Pro) c.7021T>C (p.Ser2341Pro) c.6649T>C (p.Ser2217Pro) c.6805T>C (p.Ser2269Pro) c.7012T>C (p.Ser2338Pro) c.6313T>C (p.Ser2105Pro) c.7060T>C (p.Ser2354Pro) | dbSNP COSMIC |
16 | g.3727981A>T | CA394550623 | CREBBP | c.7066T>A (p.Ser2356Thr) c.6952T>A (p.Ser2318Thr) c.7021T>A (p.Ser2341Thr) c.6649T>A (p.Ser2217Thr) c.6805T>A (p.Ser2269Thr) c.7012T>A (p.Ser2338Thr) c.6313T>A (p.Ser2105Thr) c.7060T>A (p.Ser2354Thr) | dbSNP |
16 | g.3727982C>A | CA394550628 | CREBBP | c.7065G>T (p.Gln2355His) c.6951G>T (p.Gln2317His) c.7020G>T (p.Gln2340His) c.6648G>T (p.Gln2216His) c.6804G>T (p.Gln2268His) c.7011G>T (p.Gln2337His) c.6312G>T (p.Gln2104His) c.7059G>T (p.Gln2353His) | dbSNP gnomAD v4 |
16 | g.3727982C>G | CA394550630 | CREBBP | c.7065G>C (p.Gln2355His) c.6951G>C (p.Gln2317His) c.7020G>C (p.Gln2340His) c.6648G>C (p.Gln2216His) c.6804G>C (p.Gln2268His) c.7011G>C (p.Gln2337His) c.6312G>C (p.Gln2104His) c.7059G>C (p.Gln2353His) | dbSNP gnomAD v4 |
16 | g.3727982C>T | CA493393388 | CREBBP | c.7065G>A (p.Gln2355=) c.6951G>A (p.Gln2317=) c.7020G>A (p.Gln2340=) c.6648G>A (p.Gln2216=) c.6804G>A (p.Gln2268=) c.7011G>A (p.Gln2337=) c.6312G>A (p.Gln2104=) c.7059G>A (p.Gln2353=) | dbSNP |
16 | g.3727983T>A | CA394550631 | CREBBP | c.7064A>T (p.Gln2355Leu) c.6950A>T (p.Gln2317Leu) c.7019A>T (p.Gln2340Leu) c.6647A>T (p.Gln2216Leu) c.6803A>T (p.Gln2268Leu) c.7010A>T (p.Gln2337Leu) c.6311A>T (p.Gln2104Leu) c.7058A>T (p.Gln2353Leu) | |
16 | g.3727983T>C | CA394550633 | CREBBP | c.7064A>G (p.Gln2355Arg) c.6950A>G (p.Gln2317Arg) c.7019A>G (p.Gln2340Arg) c.6647A>G (p.Gln2216Arg) c.6803A>G (p.Gln2268Arg) c.7010A>G (p.Gln2337Arg) c.6311A>G (p.Gln2104Arg) c.7058A>G (p.Gln2353Arg) | dbSNP |
16 | g.3727983T>G | CA394550635 | CREBBP | c.7064A>C (p.Gln2355Pro) c.6950A>C (p.Gln2317Pro) c.7019A>C (p.Gln2340Pro) c.6647A>C (p.Gln2216Pro) c.6803A>C (p.Gln2268Pro) c.7010A>C (p.Gln2337Pro) c.6311A>C (p.Gln2104Pro) c.7058A>C (p.Gln2353Pro) | dbSNP |
16 | g.3727984G>A | CA394550637 | CREBBP | c.7063C>T (p.Gln2355Ter) c.6949C>T (p.Gln2317Ter) c.7018C>T (p.Gln2340Ter) c.6646C>T (p.Gln2216Ter) c.6802C>T (p.Gln2268Ter) c.7009C>T (p.Gln2337Ter) c.6310C>T (p.Gln2104Ter) c.7057C>T (p.Gln2353Ter) | ClinVar dbSNP |
16 | g.3727984G>C | CA394550639 | CREBBP | c.7063C>G (p.Gln2355Glu) c.6949C>G (p.Gln2317Glu) c.7018C>G (p.Gln2340Glu) c.6646C>G (p.Gln2216Glu) c.6802C>G (p.Gln2268Glu) c.7009C>G (p.Gln2337Glu) c.6310C>G (p.Gln2104Glu) c.7057C>G (p.Gln2353Glu) | dbSNP |
16 | g.3727984G= | CA2202928432 | CREBBP | c.7063C= (p.Gln2355=) c.6949C= (p.Gln2317=) c.7018C= (p.Gln2340=) c.6646C= (p.Gln2216=) c.6802C= (p.Gln2268=) c.7009C= (p.Gln2337=) c.6310C= (p.Gln2104=) c.7057C= (p.Gln2353=) | |
16 | g.3727984G>T | CA394550640 | CREBBP | c.7063C>A (p.Gln2355Lys) c.6949C>A (p.Gln2317Lys) c.7018C>A (p.Gln2340Lys) c.6646C>A (p.Gln2216Lys) c.6802C>A (p.Gln2268Lys) c.7009C>A (p.Gln2337Lys) c.6310C>A (p.Gln2104Lys) c.7057C>A (p.Gln2353Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3727985_3727990dup | CA2575893802 | CREBBP | c.7058_7063dup (p.Pro2354_Gln2355insArgPro) c.6944_6949dup (p.Pro2316_Gln2317insArgPro) c.7013_7018dup (p.Pro2339_Gln2340insArgPro) c.6641_6646dup (p.Pro2215_Gln2216insArgPro) c.6797_6802dup (p.Pro2267_Gln2268insArgPro) c.7004_7009dup (p.Pro2336_Gln2337insArgPro) c.6305_6310dup (p.Pro2103_Gln2104insArgPro) c.7052_7057dup (p.Pro2352_Gln2353insArgPro) | |
16 | g.3727985G>A | CA7868956 | CREBBP | c.7062C>T (p.Pro2354=) c.6948C>T (p.Pro2316=) c.7017C>T (p.Pro2339=) c.6645C>T (p.Pro2215=) c.6801C>T (p.Pro2267=) c.7008C>T (p.Pro2336=) c.6309C>T (p.Pro2103=) c.7056C>T (p.Pro2352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3727985G>C | CA493393389 | CREBBP | c.7062C>G (p.Pro2354=) c.6948C>G (p.Pro2316=) c.7017C>G (p.Pro2339=) c.6645C>G (p.Pro2215=) c.6801C>G (p.Pro2267=) c.7008C>G (p.Pro2336=) c.6309C>G (p.Pro2103=) c.7056C>G (p.Pro2352=) | dbSNP |
16 | g.3727985G= | CA2202928433 | CREBBP | c.7062C= (p.Pro2354=) c.6948C= (p.Pro2316=) c.7017C= (p.Pro2339=) c.6645C= (p.Pro2215=) c.6801C= (p.Pro2267=) c.7008C= (p.Pro2336=) c.6309C= (p.Pro2103=) c.7056C= (p.Pro2352=) | |
16 | g.3727985G>T | CA493393391 | CREBBP | c.7062C>A (p.Pro2354=) c.6948C>A (p.Pro2316=) c.7017C>A (p.Pro2339=) c.6645C>A (p.Pro2215=) c.6801C>A (p.Pro2267=) c.7008C>A (p.Pro2336=) c.6309C>A (p.Pro2103=) c.7056C>A (p.Pro2352=) | dbSNP |
16 | g.3727986G>A | CA394550643 | CREBBP | c.7061C>T (p.Pro2354Leu) c.6947C>T (p.Pro2316Leu) c.7016C>T (p.Pro2339Leu) c.6644C>T (p.Pro2215Leu) c.6800C>T (p.Pro2267Leu) c.7007C>T (p.Pro2336Leu) c.6308C>T (p.Pro2103Leu) c.7055C>T (p.Pro2352Leu) | dbSNP |
16 | g.3727986G>C | CA394550645 | CREBBP | c.7061C>G (p.Pro2354Arg) c.6947C>G (p.Pro2316Arg) c.7016C>G (p.Pro2339Arg) c.6644C>G (p.Pro2215Arg) c.6800C>G (p.Pro2267Arg) c.7007C>G (p.Pro2336Arg) c.6308C>G (p.Pro2103Arg) c.7055C>G (p.Pro2352Arg) | dbSNP |
16 | g.3727986G>T | CA394550647 | CREBBP | c.7061C>A (p.Pro2354His) c.6947C>A (p.Pro2316His) c.7016C>A (p.Pro2339His) c.6644C>A (p.Pro2215His) c.6800C>A (p.Pro2267His) c.7007C>A (p.Pro2336His) c.6308C>A (p.Pro2103His) c.7055C>A (p.Pro2352His) | dbSNP |
16 | g.3727987G>A | CA394550649 | CREBBP | c.7060C>T (p.Pro2354Ser) c.6946C>T (p.Pro2316Ser) c.7015C>T (p.Pro2339Ser) c.6643C>T (p.Pro2215Ser) c.6799C>T (p.Pro2267Ser) c.7006C>T (p.Pro2336Ser) c.6307C>T (p.Pro2103Ser) c.7054C>T (p.Pro2352Ser) | |
16 | g.3727987G>C | CA394550653 | CREBBP | c.7060C>G (p.Pro2354Ala) c.6946C>G (p.Pro2316Ala) c.7015C>G (p.Pro2339Ala) c.6643C>G (p.Pro2215Ala) c.6799C>G (p.Pro2267Ala) c.7006C>G (p.Pro2336Ala) c.6307C>G (p.Pro2103Ala) c.7054C>G (p.Pro2352Ala) | |
16 | g.3727987G>T | CA394550651 | CREBBP | c.7060C>A (p.Pro2354Thr) c.6946C>A (p.Pro2316Thr) c.7015C>A (p.Pro2339Thr) c.6643C>A (p.Pro2215Thr) c.6799C>A (p.Pro2267Thr) c.7006C>A (p.Pro2336Thr) c.6307C>A (p.Pro2103Thr) c.7054C>A (p.Pro2352Thr) | |
16 | g.3727988C>A | CA493393394 | CREBBP | c.7059G>T (p.Arg2353=) c.6945G>T (p.Arg2315=) c.7014G>T (p.Arg2338=) c.6642G>T (p.Arg2214=) c.6798G>T (p.Arg2266=) c.7005G>T (p.Arg2335=) c.6306G>T (p.Arg2102=) c.7053G>T (p.Arg2351=) | dbSNP COSMIC |
16 | g.3727988C>G | CA493393395 | CREBBP | c.7059G>C (p.Arg2353=) c.6945G>C (p.Arg2315=) c.7014G>C (p.Arg2338=) c.6642G>C (p.Arg2214=) c.6798G>C (p.Arg2266=) c.7005G>C (p.Arg2335=) c.6306G>C (p.Arg2102=) c.7053G>C (p.Arg2351=) | dbSNP |
16 | g.3727988C>T | CA493393396 | CREBBP | c.7059G>A (p.Arg2353=) c.6945G>A (p.Arg2315=) c.7014G>A (p.Arg2338=) c.6642G>A (p.Arg2214=) c.6798G>A (p.Arg2266=) c.7005G>A (p.Arg2335=) c.6306G>A (p.Arg2102=) c.7053G>A (p.Arg2351=) | dbSNP |
16 | g.3727989C>A | CA394550655 | CREBBP | c.7058G>T (p.Arg2353Leu) c.6944G>T (p.Arg2315Leu) c.7013G>T (p.Arg2338Leu) c.6641G>T (p.Arg2214Leu) c.6797G>T (p.Arg2266Leu) c.7004G>T (p.Arg2335Leu) c.6305G>T (p.Arg2102Leu) c.7052G>T (p.Arg2351Leu) | dbSNP gnomAD v4 |
16 | g.3727989C= | CA2202928434 | CREBBP | c.7058G= (p.Arg2353=) c.6944G= (p.Arg2315=) c.7013G= (p.Arg2338=) c.6641G= (p.Arg2214=) c.6797G= (p.Arg2266=) c.7004G= (p.Arg2335=) c.6305G= (p.Arg2102=) c.7052G= (p.Arg2351=) | |
16 | g.3727989C>G | CA394550657 | CREBBP | c.7058G>C (p.Arg2353Pro) c.6944G>C (p.Arg2315Pro) c.7013G>C (p.Arg2338Pro) c.6641G>C (p.Arg2214Pro) c.6797G>C (p.Arg2266Pro) c.7004G>C (p.Arg2335Pro) c.6305G>C (p.Arg2102Pro) c.7052G>C (p.Arg2351Pro) | dbSNP gnomAD v4 |
16 | g.3727989C>T | CA394550659 | CREBBP | c.7058G>A (p.Arg2353Gln) c.6944G>A (p.Arg2315Gln) c.7013G>A (p.Arg2338Gln) c.6641G>A (p.Arg2214Gln) c.6797G>A (p.Arg2266Gln) c.7004G>A (p.Arg2335Gln) c.6305G>A (p.Arg2102Gln) c.7052G>A (p.Arg2351Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3727990G>A | CA7868957 | CREBBP | c.7057C>T (p.Arg2353Trp) c.6943C>T (p.Arg2315Trp) c.7012C>T (p.Arg2338Trp) c.6640C>T (p.Arg2214Trp) c.6796C>T (p.Arg2266Trp) c.7003C>T (p.Arg2335Trp) c.6304C>T (p.Arg2102Trp) c.7051C>T (p.Arg2351Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3727990G>C | CA394550662 | CREBBP | c.7057C>G (p.Arg2353Gly) c.6943C>G (p.Arg2315Gly) c.7012C>G (p.Arg2338Gly) c.6640C>G (p.Arg2214Gly) c.6796C>G (p.Arg2266Gly) c.7003C>G (p.Arg2335Gly) c.6304C>G (p.Arg2102Gly) c.7051C>G (p.Arg2351Gly) | dbSNP |
16 | g.3727990G= | CA2202928435 | CREBBP | c.7057C= (p.Arg2353=) c.6943C= (p.Arg2315=) c.7012C= (p.Arg2338=) c.6640C= (p.Arg2214=) c.6796C= (p.Arg2266=) c.7003C= (p.Arg2335=) c.6304C= (p.Arg2102=) c.7051C= (p.Arg2351=) | |
16 | g.3727990G>T | CA493393399 | CREBBP | c.7057C>A (p.Arg2353=) c.6943C>A (p.Arg2315=) c.7012C>A (p.Arg2338=) c.6640C>A (p.Arg2214=) c.6796C>A (p.Arg2266=) c.7003C>A (p.Arg2335=) c.6304C>A (p.Arg2102=) c.7051C>A (p.Arg2351=) | gnomAD v4 |
16 | g.3727991T>A | CA493393400 | CREBBP | c.7056A>T (p.Pro2352=) c.6942A>T (p.Pro2314=) c.7011A>T (p.Pro2337=) c.6639A>T (p.Pro2213=) c.6795A>T (p.Pro2265=) c.7002A>T (p.Pro2334=) c.6303A>T (p.Pro2101=) c.7050A>T (p.Pro2350=) | |
16 | g.3727991T>C | CA493393401 | CREBBP | c.7056A>G (p.Pro2352=) c.6942A>G (p.Pro2314=) c.7011A>G (p.Pro2337=) c.6639A>G (p.Pro2213=) c.6795A>G (p.Pro2265=) c.7002A>G (p.Pro2334=) c.6303A>G (p.Pro2101=) c.7050A>G (p.Pro2350=) | |
16 | g.3727991T>G | CA493393402 | CREBBP | c.7056A>C (p.Pro2352=) c.6942A>C (p.Pro2314=) c.7011A>C (p.Pro2337=) c.6639A>C (p.Pro2213=) c.6795A>C (p.Pro2265=) c.7002A>C (p.Pro2334=) c.6303A>C (p.Pro2101=) c.7050A>C (p.Pro2350=) | |
16 | g.3727992G>A | CA394550664 | CREBBP | c.7055C>T (p.Pro2352Leu) c.6941C>T (p.Pro2314Leu) c.7010C>T (p.Pro2337Leu) c.6638C>T (p.Pro2213Leu) c.6794C>T (p.Pro2265Leu) c.7001C>T (p.Pro2334Leu) c.6302C>T (p.Pro2101Leu) c.7049C>T (p.Pro2350Leu) | |
16 | g.3727992G>C | CA394550666 | CREBBP | c.7055C>G (p.Pro2352Arg) c.6941C>G (p.Pro2314Arg) c.7010C>G (p.Pro2337Arg) c.6638C>G (p.Pro2213Arg) c.6794C>G (p.Pro2265Arg) c.7001C>G (p.Pro2334Arg) c.6302C>G (p.Pro2101Arg) c.7049C>G (p.Pro2350Arg) | |
16 | g.3727992G>T | CA394550667 | CREBBP | c.7055C>A (p.Pro2352Gln) c.6941C>A (p.Pro2314Gln) c.7010C>A (p.Pro2337Gln) c.6638C>A (p.Pro2213Gln) c.6794C>A (p.Pro2265Gln) c.7001C>A (p.Pro2334Gln) c.6302C>A (p.Pro2101Gln) c.7049C>A (p.Pro2350Gln) | |
16 | g.3727993G>A | CA394550668 | CREBBP | c.7054C>T (p.Pro2352Ser) c.6940C>T (p.Pro2314Ser) c.7009C>T (p.Pro2337Ser) c.6637C>T (p.Pro2213Ser) c.6793C>T (p.Pro2265Ser) c.7000C>T (p.Pro2334Ser) c.6301C>T (p.Pro2101Ser) c.7048C>T (p.Pro2350Ser) | dbSNP |
16 | g.3727993G>C | CA394550669 | CREBBP | c.7054C>G (p.Pro2352Ala) c.6940C>G (p.Pro2314Ala) c.7009C>G (p.Pro2337Ala) c.6637C>G (p.Pro2213Ala) c.6793C>G (p.Pro2265Ala) c.7000C>G (p.Pro2334Ala) c.6301C>G (p.Pro2101Ala) c.7048C>G (p.Pro2350Ala) | dbSNP |
16 | g.3727993G>T | CA394550671 | CREBBP | c.7054C>A (p.Pro2352Thr) c.6940C>A (p.Pro2314Thr) c.7009C>A (p.Pro2337Thr) c.6637C>A (p.Pro2213Thr) c.6793C>A (p.Pro2265Thr) c.7000C>A (p.Pro2334Thr) c.6301C>A (p.Pro2101Thr) c.7048C>A (p.Pro2350Thr) | dbSNP |
16 | g.3727994A= | CA2202928436 | CREBBP | c.7053T= (p.Ser2351=) c.6939T= (p.Ser2313=) c.7008T= (p.Ser2336=) c.6636T= (p.Ser2212=) c.6792T= (p.Ser2264=) c.6999T= (p.Ser2333=) c.6300T= (p.Ser2100=) c.7047T= (p.Ser2349=) | |
16 | g.3727994A>C | CA493393406 | CREBBP | c.7053T>G (p.Ser2351=) c.6939T>G (p.Ser2313=) c.7008T>G (p.Ser2336=) c.6636T>G (p.Ser2212=) c.6792T>G (p.Ser2264=) c.6999T>G (p.Ser2333=) c.6300T>G (p.Ser2100=) c.7047T>G (p.Ser2349=) | |
16 | g.3727994A>G | CA493393407 | CREBBP | c.7053T>C (p.Ser2351=) c.6939T>C (p.Ser2313=) c.7008T>C (p.Ser2336=) c.6636T>C (p.Ser2212=) c.6792T>C (p.Ser2264=) c.6999T>C (p.Ser2333=) c.6300T>C (p.Ser2100=) c.7047T>C (p.Ser2349=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3727994A>T | CA493393405 | CREBBP | c.7053T>A (p.Ser2351=) c.6939T>A (p.Ser2313=) c.7008T>A (p.Ser2336=) c.6636T>A (p.Ser2212=) c.6792T>A (p.Ser2264=) c.6999T>A (p.Ser2333=) c.6300T>A (p.Ser2100=) c.7047T>A (p.Ser2349=) | dbSNP |
16 | g.3727995G>A | CA394550673 | CREBBP | c.7052C>T (p.Ser2351Phe) c.6938C>T (p.Ser2313Phe) c.7007C>T (p.Ser2336Phe) c.6635C>T (p.Ser2212Phe) c.6791C>T (p.Ser2264Phe) c.6998C>T (p.Ser2333Phe) c.6299C>T (p.Ser2100Phe) c.7046C>T (p.Ser2349Phe) | dbSNP |
16 | g.3727995G>C | CA394550674 | CREBBP | c.7052C>G (p.Ser2351Cys) c.6938C>G (p.Ser2313Cys) c.7007C>G (p.Ser2336Cys) c.6635C>G (p.Ser2212Cys) c.6791C>G (p.Ser2264Cys) c.6998C>G (p.Ser2333Cys) c.6299C>G (p.Ser2100Cys) c.7046C>G (p.Ser2349Cys) | dbSNP |
16 | g.3727995G>T | CA394550675 | CREBBP | c.7052C>A (p.Ser2351Tyr) c.6938C>A (p.Ser2313Tyr) c.7007C>A (p.Ser2336Tyr) c.6635C>A (p.Ser2212Tyr) c.6791C>A (p.Ser2264Tyr) c.6998C>A (p.Ser2333Tyr) c.6299C>A (p.Ser2100Tyr) c.7046C>A (p.Ser2349Tyr) | |
16 | g.3727996A>C | CA394550680 | CREBBP | c.7051T>G (p.Ser2351Ala) c.6937T>G (p.Ser2313Ala) c.7006T>G (p.Ser2336Ala) c.6634T>G (p.Ser2212Ala) c.6790T>G (p.Ser2264Ala) c.6997T>G (p.Ser2333Ala) c.6298T>G (p.Ser2100Ala) c.7045T>G (p.Ser2349Ala) | dbSNP |
16 | g.3727996A>G | CA394550679 | CREBBP | c.7051T>C (p.Ser2351Pro) c.6937T>C (p.Ser2313Pro) c.7006T>C (p.Ser2336Pro) c.6634T>C (p.Ser2212Pro) c.6790T>C (p.Ser2264Pro) c.6997T>C (p.Ser2333Pro) c.6298T>C (p.Ser2100Pro) c.7045T>C (p.Ser2349Pro) | dbSNP gnomAD v4 |
16 | g.3727996A>T | CA394550677 | CREBBP | c.7051T>A (p.Ser2351Thr) c.6937T>A (p.Ser2313Thr) c.7006T>A (p.Ser2336Thr) c.6634T>A (p.Ser2212Thr) c.6790T>A (p.Ser2264Thr) c.6997T>A (p.Ser2333Thr) c.6298T>A (p.Ser2100Thr) c.7045T>A (p.Ser2349Thr) | dbSNP |
16 | g.3727997C>A | CA394550682 | CREBBP | c.7050G>T (p.Gln2350His) c.6936G>T (p.Gln2312His) c.7005G>T (p.Gln2335His) c.6633G>T (p.Gln2211His) c.6789G>T (p.Gln2263His) c.6996G>T (p.Gln2332His) c.6297G>T (p.Gln2099His) c.7044G>T (p.Gln2348His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3727997C= | CA2202928437 | CREBBP | c.7050G= (p.Gln2350=) c.6936G= (p.Gln2312=) c.7005G= (p.Gln2335=) c.6633G= (p.Gln2211=) c.6789G= (p.Gln2263=) c.6996G= (p.Gln2332=) c.6297G= (p.Gln2099=) c.7044G= (p.Gln2348=) | |
16 | g.3727997C>G | CA394550683 | CREBBP | c.7050G>C (p.Gln2350His) c.6936G>C (p.Gln2312His) c.7005G>C (p.Gln2335His) c.6633G>C (p.Gln2211His) c.6789G>C (p.Gln2263His) c.6996G>C (p.Gln2332His) c.6297G>C (p.Gln2099His) c.7044G>C (p.Gln2348His) | dbSNP gnomAD v4 |
16 | g.3727997C>T | CA493393408 | CREBBP | c.7050G>A (p.Gln2350=) c.6936G>A (p.Gln2312=) c.7005G>A (p.Gln2335=) c.6633G>A (p.Gln2211=) c.6789G>A (p.Gln2263=) c.6996G>A (p.Gln2332=) c.6297G>A (p.Gln2099=) c.7044G>A (p.Gln2348=) | dbSNP gnomAD v4 |
16 | g.3727998T>A | CA394550685 | CREBBP | c.7049A>T (p.Gln2350Leu) c.6935A>T (p.Gln2312Leu) c.7004A>T (p.Gln2335Leu) c.6632A>T (p.Gln2211Leu) c.6788A>T (p.Gln2263Leu) c.6995A>T (p.Gln2332Leu) c.6296A>T (p.Gln2099Leu) c.7043A>T (p.Gln2348Leu) | |
16 | g.3727998T>C | CA394550687 | CREBBP | c.7049A>G (p.Gln2350Arg) c.6935A>G (p.Gln2312Arg) c.7004A>G (p.Gln2335Arg) c.6632A>G (p.Gln2211Arg) c.6788A>G (p.Gln2263Arg) c.6995A>G (p.Gln2332Arg) c.6296A>G (p.Gln2099Arg) c.7043A>G (p.Gln2348Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3727998T>G | CA394550688 | CREBBP | c.7049A>C (p.Gln2350Pro) c.6935A>C (p.Gln2312Pro) c.7004A>C (p.Gln2335Pro) c.6632A>C (p.Gln2211Pro) c.6788A>C (p.Gln2263Pro) c.6995A>C (p.Gln2332Pro) c.6296A>C (p.Gln2099Pro) c.7043A>C (p.Gln2348Pro) | |
16 | g.3727998T= | CA2202928438 | CREBBP | c.7049A= (p.Gln2350=) c.6935A= (p.Gln2312=) c.7004A= (p.Gln2335=) c.6632A= (p.Gln2211=) c.6788A= (p.Gln2263=) c.6995A= (p.Gln2332=) c.6296A= (p.Gln2099=) c.7043A= (p.Gln2348=) | |
16 | g.3727999G>A | CA394550691 | CREBBP | c.7048C>T (p.Gln2350Ter) c.6934C>T (p.Gln2312Ter) c.7003C>T (p.Gln2335Ter) c.6631C>T (p.Gln2211Ter) c.6787C>T (p.Gln2263Ter) c.6994C>T (p.Gln2332Ter) c.6295C>T (p.Gln2099Ter) c.7042C>T (p.Gln2348Ter) | dbSNP |
16 | g.3727999G>C | CA7868958 | CREBBP | c.7048C>G (p.Gln2350Glu) c.6934C>G (p.Gln2312Glu) c.7003C>G (p.Gln2335Glu) c.6631C>G (p.Gln2211Glu) c.6787C>G (p.Gln2263Glu) c.6994C>G (p.Gln2332Glu) c.6295C>G (p.Gln2099Glu) c.7042C>G (p.Gln2348Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3727999G= | CA2202928439 | CREBBP | c.7048C= (p.Gln2350=) c.6934C= (p.Gln2312=) c.7003C= (p.Gln2335=) c.6631C= (p.Gln2211=) c.6787C= (p.Gln2263=) c.6994C= (p.Gln2332=) c.6295C= (p.Gln2099=) c.7042C= (p.Gln2348=) | |
16 | g.3727999G>T | CA394550693 | CREBBP | c.7048C>A (p.Gln2350Lys) c.6934C>A (p.Gln2312Lys) c.7003C>A (p.Gln2335Lys) c.6631C>A (p.Gln2211Lys) c.6787C>A (p.Gln2263Lys) c.6994C>A (p.Gln2332Lys) c.6295C>A (p.Gln2099Lys) c.7042C>A (p.Gln2348Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728000_3728017dup | CA720733019 | CREBBP | c.7031_7048dup (p.Val2349_Gln2350insArgSerProAlaProVal) c.6917_6934dup (p.Val2311_Gln2312insArgSerProAlaProVal) c.6986_7003dup (p.Val2334_Gln2335insArgSerProAlaProVal) c.6614_6631dup (p.Val2210_Gln2211insArgSerProAlaProVal) c.6770_6787dup (p.Val2262_Gln2263insArgSerProAlaProVal) c.6977_6994dup (p.Val2331_Gln2332insArgSerProAlaProVal) c.6278_6295dup (p.Val2098_Gln2099insArgSerProAlaProVal) c.7025_7042dup (p.Val2347_Gln2348insArgSerProAlaProVal) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728000G>A | CA493393414 | CREBBP | c.7047C>T (p.Val2349=) c.6933C>T (p.Val2311=) c.7002C>T (p.Val2334=) c.6630C>T (p.Val2210=) c.6786C>T (p.Val2262=) c.6993C>T (p.Val2331=) c.6294C>T (p.Val2098=) c.7041C>T (p.Val2347=) | dbSNP COSMIC |
16 | g.3728000G>C | CA493393416 | CREBBP | c.7047C>G (p.Val2349=) c.6933C>G (p.Val2311=) c.7002C>G (p.Val2334=) c.6630C>G (p.Val2210=) c.6786C>G (p.Val2262=) c.6993C>G (p.Val2331=) c.6294C>G (p.Val2098=) c.7041C>G (p.Val2347=) | dbSNP COSMIC |
16 | g.3728000G= | CA2202928440 | CREBBP | c.7047C= (p.Val2349=) c.6933C= (p.Val2311=) c.7002C= (p.Val2334=) c.6630C= (p.Val2210=) c.6786C= (p.Val2262=) c.6993C= (p.Val2331=) c.6294C= (p.Val2098=) c.7041C= (p.Val2347=) | |
16 | g.3728000G>T | CA493393415 | CREBBP | c.7047C>A (p.Val2349=) c.6933C>A (p.Val2311=) c.7002C>A (p.Val2334=) c.6630C>A (p.Val2210=) c.6786C>A (p.Val2262=) c.6993C>A (p.Val2331=) c.6294C>A (p.Val2098=) c.7041C>A (p.Val2347=) | dbSNP |
16 | g.3728001A>C | CA394550696 | CREBBP | c.7046T>G (p.Val2349Gly) c.6932T>G (p.Val2311Gly) c.7001T>G (p.Val2334Gly) c.6629T>G (p.Val2210Gly) c.6785T>G (p.Val2262Gly) c.6992T>G (p.Val2331Gly) c.6293T>G (p.Val2098Gly) c.7040T>G (p.Val2347Gly) | dbSNP |
16 | g.3728001A>G | CA394550697 | CREBBP | c.7046T>C (p.Val2349Ala) c.6932T>C (p.Val2311Ala) c.7001T>C (p.Val2334Ala) c.6629T>C (p.Val2210Ala) c.6785T>C (p.Val2262Ala) c.6992T>C (p.Val2331Ala) c.6293T>C (p.Val2098Ala) c.7040T>C (p.Val2347Ala) | dbSNP |
16 | g.3728001A>T | CA394550698 | CREBBP | c.7046T>A (p.Val2349Asp) c.6932T>A (p.Val2311Asp) c.7001T>A (p.Val2334Asp) c.6629T>A (p.Val2210Asp) c.6785T>A (p.Val2262Asp) c.6992T>A (p.Val2331Asp) c.6293T>A (p.Val2098Asp) c.7040T>A (p.Val2347Asp) | dbSNP |
16 | g.3728002C>A | CA394550700 | CREBBP | c.7045G>T (p.Val2349Phe) c.6931G>T (p.Val2311Phe) c.7000G>T (p.Val2334Phe) c.6628G>T (p.Val2210Phe) c.6784G>T (p.Val2262Phe) c.6991G>T (p.Val2331Phe) c.6292G>T (p.Val2098Phe) c.7039G>T (p.Val2347Phe) | dbSNP gnomAD v4 |
16 | g.3728002C>G | CA394550702 | CREBBP | c.7045G>C (p.Val2349Leu) c.6931G>C (p.Val2311Leu) c.7000G>C (p.Val2334Leu) c.6628G>C (p.Val2210Leu) c.6784G>C (p.Val2262Leu) c.6991G>C (p.Val2331Leu) c.6292G>C (p.Val2098Leu) c.7039G>C (p.Val2347Leu) | dbSNP |
16 | g.3728002C>T | CA394550704 | CREBBP | c.7045G>A (p.Val2349Ile) c.6931G>A (p.Val2311Ile) c.7000G>A (p.Val2334Ile) c.6628G>A (p.Val2210Ile) c.6784G>A (p.Val2262Ile) c.6991G>A (p.Val2331Ile) c.6292G>A (p.Val2098Ile) c.7039G>A (p.Val2347Ile) | dbSNP |
16 | g.3728003A>C | CA493393419 | CREBBP | c.7044T>G (p.Pro2348=) c.6930T>G (p.Pro2310=) c.6999T>G (p.Pro2333=) c.6627T>G (p.Pro2209=) c.6783T>G (p.Pro2261=) c.6990T>G (p.Pro2330=) c.6291T>G (p.Pro2097=) c.7038T>G (p.Pro2346=) | |
16 | g.3728003A>G | CA493393420 | CREBBP | c.7044T>C (p.Pro2348=) c.6930T>C (p.Pro2310=) c.6999T>C (p.Pro2333=) c.6627T>C (p.Pro2209=) c.6783T>C (p.Pro2261=) c.6990T>C (p.Pro2330=) c.6291T>C (p.Pro2097=) c.7038T>C (p.Pro2346=) | dbSNP |
16 | g.3728003A>T | CA493393421 | CREBBP | c.7044T>A (p.Pro2348=) c.6930T>A (p.Pro2310=) c.6999T>A (p.Pro2333=) c.6627T>A (p.Pro2209=) c.6783T>A (p.Pro2261=) c.6990T>A (p.Pro2330=) c.6291T>A (p.Pro2097=) c.7038T>A (p.Pro2346=) | dbSNP |
16 | g.3728004G>A | CA394550710 | CREBBP | c.7043C>T (p.Pro2348Leu) c.6929C>T (p.Pro2310Leu) c.6998C>T (p.Pro2333Leu) c.6626C>T (p.Pro2209Leu) c.6782C>T (p.Pro2261Leu) c.6989C>T (p.Pro2330Leu) c.6290C>T (p.Pro2097Leu) c.7037C>T (p.Pro2346Leu) | dbSNP |
16 | g.3728004G>C | CA394550708 | CREBBP | c.7043C>G (p.Pro2348Arg) c.6929C>G (p.Pro2310Arg) c.6998C>G (p.Pro2333Arg) c.6626C>G (p.Pro2209Arg) c.6782C>G (p.Pro2261Arg) c.6989C>G (p.Pro2330Arg) c.6290C>G (p.Pro2097Arg) c.7037C>G (p.Pro2346Arg) | |
16 | g.3728004G>T | CA394550706 | CREBBP | c.7043C>A (p.Pro2348His) c.6929C>A (p.Pro2310His) c.6998C>A (p.Pro2333His) c.6626C>A (p.Pro2209His) c.6782C>A (p.Pro2261His) c.6989C>A (p.Pro2330His) c.6290C>A (p.Pro2097His) c.7037C>A (p.Pro2346His) | dbSNP |
16 | g.3728005G>A | CA394550712 | CREBBP | c.7042C>T (p.Pro2348Ser) c.6928C>T (p.Pro2310Ser) c.6997C>T (p.Pro2333Ser) c.6625C>T (p.Pro2209Ser) c.6781C>T (p.Pro2261Ser) c.6988C>T (p.Pro2330Ser) c.6289C>T (p.Pro2097Ser) c.7036C>T (p.Pro2346Ser) | dbSNP |
16 | g.3728005G>C | CA394550714 | CREBBP | c.7042C>G (p.Pro2348Ala) c.6928C>G (p.Pro2310Ala) c.6997C>G (p.Pro2333Ala) c.6625C>G (p.Pro2209Ala) c.6781C>G (p.Pro2261Ala) c.6988C>G (p.Pro2330Ala) c.6289C>G (p.Pro2097Ala) c.7036C>G (p.Pro2346Ala) | |
16 | g.3728005G>T | CA394550716 | CREBBP | c.7042C>A (p.Pro2348Thr) c.6928C>A (p.Pro2310Thr) c.6997C>A (p.Pro2333Thr) c.6625C>A (p.Pro2209Thr) c.6781C>A (p.Pro2261Thr) c.6988C>A (p.Pro2330Thr) c.6289C>A (p.Pro2097Thr) c.7036C>A (p.Pro2346Thr) | dbSNP |
16 | g.3728006G>A | CA7868959 | CREBBP | c.7041C>T (p.Ala2347=) c.6927C>T (p.Ala2309=) c.6996C>T (p.Ala2332=) c.6624C>T (p.Ala2208=) c.6780C>T (p.Ala2260=) c.6987C>T (p.Ala2329=) c.6288C>T (p.Ala2096=) c.7035C>T (p.Ala2345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728006G>C | CA493393426 | CREBBP | c.7041C>G (p.Ala2347=) c.6927C>G (p.Ala2309=) c.6996C>G (p.Ala2332=) c.6624C>G (p.Ala2208=) c.6780C>G (p.Ala2260=) c.6987C>G (p.Ala2329=) c.6288C>G (p.Ala2096=) c.7035C>G (p.Ala2345=) | |
16 | g.3728006G= | CA2202928441 | CREBBP | c.7041C= (p.Ala2347=) c.6927C= (p.Ala2309=) c.6996C= (p.Ala2332=) c.6624C= (p.Ala2208=) c.6780C= (p.Ala2260=) c.6987C= (p.Ala2329=) c.6288C= (p.Ala2096=) c.7035C= (p.Ala2345=) | |
16 | g.3728006G>T | CA493393428 | CREBBP | c.7041C>A (p.Ala2347=) c.6927C>A (p.Ala2309=) c.6996C>A (p.Ala2332=) c.6624C>A (p.Ala2208=) c.6780C>A (p.Ala2260=) c.6987C>A (p.Ala2329=) c.6288C>A (p.Ala2096=) c.7035C>A (p.Ala2345=) | |
16 | g.3728007G>A | CA171806 | CREBBP | c.7040C>T (p.Ala2347Val) c.6926C>T (p.Ala2309Val) c.6995C>T (p.Ala2332Val) c.6623C>T (p.Ala2208Val) c.6779C>T (p.Ala2260Val) c.6986C>T (p.Ala2329Val) c.6287C>T (p.Ala2096Val) c.7034C>T (p.Ala2345Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728007G>C | CA394550719 | CREBBP | c.7040C>G (p.Ala2347Gly) c.6926C>G (p.Ala2309Gly) c.6995C>G (p.Ala2332Gly) c.6623C>G (p.Ala2208Gly) c.6779C>G (p.Ala2260Gly) c.6986C>G (p.Ala2329Gly) c.6287C>G (p.Ala2096Gly) c.7034C>G (p.Ala2345Gly) | dbSNP |
16 | g.3728007G= | CA2202928442 | CREBBP | c.7040C= (p.Ala2347=) c.6926C= (p.Ala2309=) c.6995C= (p.Ala2332=) c.6623C= (p.Ala2208=) c.6779C= (p.Ala2260=) c.6986C= (p.Ala2329=) c.6287C= (p.Ala2096=) c.7034C= (p.Ala2345=) | |
16 | g.3728007G>T | CA394550721 | CREBBP | c.7040C>A (p.Ala2347Asp) c.6926C>A (p.Ala2309Asp) c.6995C>A (p.Ala2332Asp) c.6623C>A (p.Ala2208Asp) c.6779C>A (p.Ala2260Asp) c.6986C>A (p.Ala2329Asp) c.6287C>A (p.Ala2096Asp) c.7034C>A (p.Ala2345Asp) | |
16 | g.3728008C>A | CA394550723 | CREBBP | c.7039G>T (p.Ala2347Ser) c.6925G>T (p.Ala2309Ser) c.6994G>T (p.Ala2332Ser) c.6622G>T (p.Ala2208Ser) c.6778G>T (p.Ala2260Ser) c.6985G>T (p.Ala2329Ser) c.6286G>T (p.Ala2096Ser) c.7033G>T (p.Ala2345Ser) | dbSNP gnomAD v4 |
16 | g.3728008C>G | CA394550725 | CREBBP | c.7039G>C (p.Ala2347Pro) c.6925G>C (p.Ala2309Pro) c.6994G>C (p.Ala2332Pro) c.6622G>C (p.Ala2208Pro) c.6778G>C (p.Ala2260Pro) c.6985G>C (p.Ala2329Pro) c.6286G>C (p.Ala2096Pro) c.7033G>C (p.Ala2345Pro) | dbSNP |
16 | g.3728008C>T | CA394550727 | CREBBP | c.7039G>A (p.Ala2347Thr) c.6925G>A (p.Ala2309Thr) c.6994G>A (p.Ala2332Thr) c.6622G>A (p.Ala2208Thr) c.6778G>A (p.Ala2260Thr) c.6985G>A (p.Ala2329Thr) c.6286G>A (p.Ala2096Thr) c.7033G>A (p.Ala2345Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.3728009T>A | CA493393434 | CREBBP | c.7038A>T (p.Pro2346=) c.6924A>T (p.Pro2308=) c.6993A>T (p.Pro2331=) c.6621A>T (p.Pro2207=) c.6777A>T (p.Pro2259=) c.6984A>T (p.Pro2328=) c.6285A>T (p.Pro2095=) c.7032A>T (p.Pro2344=) | |
16 | g.3728009T>C | CA493393436 | CREBBP | c.7038A>G (p.Pro2346=) c.6924A>G (p.Pro2308=) c.6993A>G (p.Pro2331=) c.6621A>G (p.Pro2207=) c.6777A>G (p.Pro2259=) c.6984A>G (p.Pro2328=) c.6285A>G (p.Pro2095=) c.7032A>G (p.Pro2344=) | dbSNP |
16 | g.3728009T>G | CA493393438 | CREBBP | c.7038A>C (p.Pro2346=) c.6924A>C (p.Pro2308=) c.6993A>C (p.Pro2331=) c.6621A>C (p.Pro2207=) c.6777A>C (p.Pro2259=) c.6984A>C (p.Pro2328=) c.6285A>C (p.Pro2095=) c.7032A>C (p.Pro2344=) | |
16 | g.3728010G>A | CA394550729 | CREBBP | c.7037C>T (p.Pro2346Leu) c.6923C>T (p.Pro2308Leu) c.6992C>T (p.Pro2331Leu) c.6620C>T (p.Pro2207Leu) c.6776C>T (p.Pro2259Leu) c.6983C>T (p.Pro2328Leu) c.6284C>T (p.Pro2095Leu) c.7031C>T (p.Pro2344Leu) | dbSNP COSMIC |
16 | g.3728010G>C | CA394550731 | CREBBP | c.7037C>G (p.Pro2346Arg) c.6923C>G (p.Pro2308Arg) c.6992C>G (p.Pro2331Arg) c.6620C>G (p.Pro2207Arg) c.6776C>G (p.Pro2259Arg) c.6983C>G (p.Pro2328Arg) c.6284C>G (p.Pro2095Arg) c.7031C>G (p.Pro2344Arg) | dbSNP |
16 | g.3728010G>T | CA394550733 | CREBBP | c.7037C>A (p.Pro2346Gln) c.6923C>A (p.Pro2308Gln) c.6992C>A (p.Pro2331Gln) c.6620C>A (p.Pro2207Gln) c.6776C>A (p.Pro2259Gln) c.6983C>A (p.Pro2328Gln) c.6284C>A (p.Pro2095Gln) c.7031C>A (p.Pro2344Gln) | dbSNP |
16 | g.3728011G>A | CA394550739 | CREBBP | c.7036C>T (p.Pro2346Ser) c.6922C>T (p.Pro2308Ser) c.6991C>T (p.Pro2331Ser) c.6619C>T (p.Pro2207Ser) c.6775C>T (p.Pro2259Ser) c.6982C>T (p.Pro2328Ser) c.6283C>T (p.Pro2095Ser) c.7030C>T (p.Pro2344Ser) | dbSNP |
16 | g.3728011G>C | CA394550737 | CREBBP | c.7036C>G (p.Pro2346Ala) c.6922C>G (p.Pro2308Ala) c.6991C>G (p.Pro2331Ala) c.6619C>G (p.Pro2207Ala) c.6775C>G (p.Pro2259Ala) c.6982C>G (p.Pro2328Ala) c.6283C>G (p.Pro2095Ala) c.7030C>G (p.Pro2344Ala) | dbSNP |
16 | g.3728011G>T | CA394550735 | CREBBP | c.7036C>A (p.Pro2346Thr) c.6922C>A (p.Pro2308Thr) c.6991C>A (p.Pro2331Thr) c.6619C>A (p.Pro2207Thr) c.6775C>A (p.Pro2259Thr) c.6982C>A (p.Pro2328Thr) c.6283C>A (p.Pro2095Thr) c.7030C>A (p.Pro2344Thr) | |
16 | g.3728012A>C | CA493393445 | CREBBP | c.7035T>G (p.Ser2345=) c.6921T>G (p.Ser2307=) c.6990T>G (p.Ser2330=) c.6618T>G (p.Ser2206=) c.6774T>G (p.Ser2258=) c.6981T>G (p.Ser2327=) c.6282T>G (p.Ser2094=) c.7029T>G (p.Ser2343=) | gnomAD v4 |
16 | g.3728012A>G | CA493393447 | CREBBP | c.7035T>C (p.Ser2345=) c.6921T>C (p.Ser2307=) c.6990T>C (p.Ser2330=) c.6618T>C (p.Ser2206=) c.6774T>C (p.Ser2258=) c.6981T>C (p.Ser2327=) c.6282T>C (p.Ser2094=) c.7029T>C (p.Ser2343=) | dbSNP |
16 | g.3728012A>T | CA493393449 | CREBBP | c.7035T>A (p.Ser2345=) c.6921T>A (p.Ser2307=) c.6990T>A (p.Ser2330=) c.6618T>A (p.Ser2206=) c.6774T>A (p.Ser2258=) c.6981T>A (p.Ser2327=) c.6282T>A (p.Ser2094=) c.7029T>A (p.Ser2343=) | dbSNP |
16 | g.3728013G>A | CA394550741 | CREBBP | c.7034C>T (p.Ser2345Phe) c.6920C>T (p.Ser2307Phe) c.6989C>T (p.Ser2330Phe) c.6617C>T (p.Ser2206Phe) c.6773C>T (p.Ser2258Phe) c.6980C>T (p.Ser2327Phe) c.6281C>T (p.Ser2094Phe) c.7028C>T (p.Ser2343Phe) | dbSNP |
16 | g.3728013G>C | CA394550743 | CREBBP | c.7034C>G (p.Ser2345Cys) c.6920C>G (p.Ser2307Cys) c.6989C>G (p.Ser2330Cys) c.6617C>G (p.Ser2206Cys) c.6773C>G (p.Ser2258Cys) c.6980C>G (p.Ser2327Cys) c.6281C>G (p.Ser2094Cys) c.7028C>G (p.Ser2343Cys) | dbSNP |
16 | g.3728013G>T | CA394550744 | CREBBP | c.7034C>A (p.Ser2345Tyr) c.6920C>A (p.Ser2307Tyr) c.6989C>A (p.Ser2330Tyr) c.6617C>A (p.Ser2206Tyr) c.6773C>A (p.Ser2258Tyr) c.6980C>A (p.Ser2327Tyr) c.6281C>A (p.Ser2094Tyr) c.7028C>A (p.Ser2343Tyr) | dbSNP |
16 | g.3728014A>C | CA394550746 | CREBBP | c.7033T>G (p.Ser2345Ala) c.6919T>G (p.Ser2307Ala) c.6988T>G (p.Ser2330Ala) c.6616T>G (p.Ser2206Ala) c.6772T>G (p.Ser2258Ala) c.6979T>G (p.Ser2327Ala) c.6280T>G (p.Ser2094Ala) c.7027T>G (p.Ser2343Ala) | dbSNP |
16 | g.3728014A>G | CA394550748 | CREBBP | c.7033T>C (p.Ser2345Pro) c.6919T>C (p.Ser2307Pro) c.6988T>C (p.Ser2330Pro) c.6616T>C (p.Ser2206Pro) c.6772T>C (p.Ser2258Pro) c.6979T>C (p.Ser2327Pro) c.6280T>C (p.Ser2094Pro) c.7027T>C (p.Ser2343Pro) | dbSNP |
16 | g.3728014A>T | CA394550750 | CREBBP | c.7033T>A (p.Ser2345Thr) c.6919T>A (p.Ser2307Thr) c.6988T>A (p.Ser2330Thr) c.6616T>A (p.Ser2206Thr) c.6772T>A (p.Ser2258Thr) c.6979T>A (p.Ser2327Thr) c.6280T>A (p.Ser2094Thr) c.7027T>A (p.Ser2343Thr) | dbSNP |
16 | g.3728015C>A | CA493393453 | CREBBP | c.7032G>T (p.Arg2344=) c.6918G>T (p.Arg2306=) c.6987G>T (p.Arg2329=) c.6615G>T (p.Arg2205=) c.6771G>T (p.Arg2257=) c.6978G>T (p.Arg2326=) c.6279G>T (p.Arg2093=) c.7026G>T (p.Arg2342=) | dbSNP |
16 | g.3728015C>G | CA493393456 | CREBBP | c.7032G>C (p.Arg2344=) c.6918G>C (p.Arg2306=) c.6987G>C (p.Arg2329=) c.6615G>C (p.Arg2205=) c.6771G>C (p.Arg2257=) c.6978G>C (p.Arg2326=) c.6279G>C (p.Arg2093=) c.7026G>C (p.Arg2342=) | dbSNP |
16 | g.3728015C>T | CA493393455 | CREBBP | c.7032G>A (p.Arg2344=) c.6918G>A (p.Arg2306=) c.6987G>A (p.Arg2329=) c.6615G>A (p.Arg2205=) c.6771G>A (p.Arg2257=) c.6978G>A (p.Arg2326=) c.6279G>A (p.Arg2093=) c.7026G>A (p.Arg2342=) | dbSNP COSMIC |
16 | g.3728016C>A | CA394550752 | CREBBP | c.7031G>T (p.Arg2344Leu) c.6917G>T (p.Arg2306Leu) c.6986G>T (p.Arg2329Leu) c.6614G>T (p.Arg2205Leu) c.6770G>T (p.Arg2257Leu) c.6977G>T (p.Arg2326Leu) c.6278G>T (p.Arg2093Leu) c.7025G>T (p.Arg2342Leu) | |
16 | g.3728016C= | CA2202928443 | CREBBP | c.7031G= (p.Arg2344=) c.6917G= (p.Arg2306=) c.6986G= (p.Arg2329=) c.6614G= (p.Arg2205=) c.6770G= (p.Arg2257=) c.6977G= (p.Arg2326=) c.6278G= (p.Arg2093=) c.7025G= (p.Arg2342=) | |
16 | g.3728016C>G | CA394550753 | CREBBP | c.7031G>C (p.Arg2344Pro) c.6917G>C (p.Arg2306Pro) c.6986G>C (p.Arg2329Pro) c.6614G>C (p.Arg2205Pro) c.6770G>C (p.Arg2257Pro) c.6977G>C (p.Arg2326Pro) c.6278G>C (p.Arg2093Pro) c.7025G>C (p.Arg2342Pro) | |
16 | g.3728016C>T | CA7868960 | CREBBP | c.7031G>A (p.Arg2344Gln) c.6917G>A (p.Arg2306Gln) c.6986G>A (p.Arg2329Gln) c.6614G>A (p.Arg2205Gln) c.6770G>A (p.Arg2257Gln) c.6977G>A (p.Arg2326Gln) c.6278G>A (p.Arg2093Gln) c.7025G>A (p.Arg2342Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728017G>A | CA394550755 | CREBBP | c.7030C>T (p.Arg2344Trp) c.6916C>T (p.Arg2306Trp) c.6985C>T (p.Arg2329Trp) c.6613C>T (p.Arg2205Trp) c.6769C>T (p.Arg2257Trp) c.6976C>T (p.Arg2326Trp) c.6277C>T (p.Arg2093Trp) c.7024C>T (p.Arg2342Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728017G>C | CA394550757 | CREBBP | c.7030C>G (p.Arg2344Gly) c.6916C>G (p.Arg2306Gly) c.6985C>G (p.Arg2329Gly) c.6613C>G (p.Arg2205Gly) c.6769C>G (p.Arg2257Gly) c.6976C>G (p.Arg2326Gly) c.6277C>G (p.Arg2093Gly) c.7024C>G (p.Arg2342Gly) | |
16 | g.3728017G= | CA2202928444 | CREBBP | c.7030C= (p.Arg2344=) c.6916C= (p.Arg2306=) c.6985C= (p.Arg2329=) c.6613C= (p.Arg2205=) c.6769C= (p.Arg2257=) c.6976C= (p.Arg2326=) c.6277C= (p.Arg2093=) c.7024C= (p.Arg2342=) | |
16 | g.3728017G>T | CA493393458 | CREBBP | c.7030C>A (p.Arg2344=) c.6916C>A (p.Arg2306=) c.6985C>A (p.Arg2329=) c.6613C>A (p.Arg2205=) c.6769C>A (p.Arg2257=) c.6976C>A (p.Arg2326=) c.6277C>A (p.Arg2093=) c.7024C>A (p.Arg2342=) | gnomAD v4 |
16 | g.3728018C>A | CA493393462 | CREBBP | c.7029G>T (p.Val2343=) c.6915G>T (p.Val2305=) c.6984G>T (p.Val2328=) c.6612G>T (p.Val2204=) c.6768G>T (p.Val2256=) c.6975G>T (p.Val2325=) c.6276G>T (p.Val2092=) c.7023G>T (p.Val2341=) | dbSNP |
16 | g.3728018C>G | CA493393463 | CREBBP | c.7029G>C (p.Val2343=) c.6915G>C (p.Val2305=) c.6984G>C (p.Val2328=) c.6612G>C (p.Val2204=) c.6768G>C (p.Val2256=) c.6975G>C (p.Val2325=) c.6276G>C (p.Val2092=) c.7023G>C (p.Val2341=) | dbSNP |
16 | g.3728018C>T | CA493393464 | CREBBP | c.7029G>A (p.Val2343=) c.6915G>A (p.Val2305=) c.6984G>A (p.Val2328=) c.6612G>A (p.Val2204=) c.6768G>A (p.Val2256=) c.6975G>A (p.Val2325=) c.6276G>A (p.Val2092=) c.7023G>A (p.Val2341=) | dbSNP |
16 | g.3728019A= | CA2202928445 | CREBBP | c.7028T= (p.Val2343=) c.6914T= (p.Val2305=) c.6983T= (p.Val2328=) c.6611T= (p.Val2204=) c.6767T= (p.Val2256=) c.6974T= (p.Val2325=) c.6275T= (p.Val2092=) c.7022T= (p.Val2341=) | |
16 | g.3728019A>C | CA394550759 | CREBBP | c.7028T>G (p.Val2343Gly) c.6914T>G (p.Val2305Gly) c.6983T>G (p.Val2328Gly) c.6611T>G (p.Val2204Gly) c.6767T>G (p.Val2256Gly) c.6974T>G (p.Val2325Gly) c.6275T>G (p.Val2092Gly) c.7022T>G (p.Val2341Gly) | ClinVar dbSNP |
16 | g.3728019A>G | CA276971124 | CREBBP | c.7028T>C (p.Val2343Ala) c.6914T>C (p.Val2305Ala) c.6983T>C (p.Val2328Ala) c.6611T>C (p.Val2204Ala) c.6767T>C (p.Val2256Ala) c.6974T>C (p.Val2325Ala) c.6275T>C (p.Val2092Ala) c.7022T>C (p.Val2341Ala) | dbSNP |
16 | g.3728019A>T | CA394550762 | CREBBP | c.7028T>A (p.Val2343Glu) c.6914T>A (p.Val2305Glu) c.6983T>A (p.Val2328Glu) c.6611T>A (p.Val2204Glu) c.6767T>A (p.Val2256Glu) c.6974T>A (p.Val2325Glu) c.6275T>A (p.Val2092Glu) c.7022T>A (p.Val2341Glu) | dbSNP |
16 | g.3728020C>A | CA394550766 | CREBBP | c.7027G>T (p.Val2343Leu) c.6913G>T (p.Val2305Leu) c.6982G>T (p.Val2328Leu) c.6610G>T (p.Val2204Leu) c.6766G>T (p.Val2256Leu) c.6973G>T (p.Val2325Leu) c.6274G>T (p.Val2092Leu) c.7021G>T (p.Val2341Leu) | dbSNP |
16 | g.3728020C>G | CA394550768 | CREBBP | c.7027G>C (p.Val2343Leu) c.6913G>C (p.Val2305Leu) c.6982G>C (p.Val2328Leu) c.6610G>C (p.Val2204Leu) c.6766G>C (p.Val2256Leu) c.6973G>C (p.Val2325Leu) c.6274G>C (p.Val2092Leu) c.7021G>C (p.Val2341Leu) | dbSNP |
16 | g.3728020C>T | CA394550764 | CREBBP | c.7027G>A (p.Val2343Met) c.6913G>A (p.Val2305Met) c.6982G>A (p.Val2328Met) c.6610G>A (p.Val2204Met) c.6766G>A (p.Val2256Met) c.6973G>A (p.Val2325Met) c.6274G>A (p.Val2092Met) c.7021G>A (p.Val2341Met) | dbSNP |
16 | g.3728021C>A | CA394550770 | CREBBP | c.7026G>T (p.Gln2342His) c.6912G>T (p.Gln2304His) c.6981G>T (p.Gln2327His) c.6609G>T (p.Gln2203His) c.6765G>T (p.Gln2255His) c.6972G>T (p.Gln2324His) c.6273G>T (p.Gln2091His) c.7020G>T (p.Gln2340His) | |
16 | g.3728021C= | CA2202928446 | CREBBP | c.7026G= (p.Gln2342=) c.6912G= (p.Gln2304=) c.6981G= (p.Gln2327=) c.6609G= (p.Gln2203=) c.6765G= (p.Gln2255=) c.6972G= (p.Gln2324=) c.6273G= (p.Gln2091=) c.7020G= (p.Gln2340=) | |
16 | g.3728021C>G | CA394550772 | CREBBP | c.7026G>C (p.Gln2342His) c.6912G>C (p.Gln2304His) c.6981G>C (p.Gln2327His) c.6609G>C (p.Gln2203His) c.6765G>C (p.Gln2255His) c.6972G>C (p.Gln2324His) c.6273G>C (p.Gln2091His) c.7020G>C (p.Gln2340His) | dbSNP |
16 | g.3728021C>T | CA493393467 | CREBBP | c.7026G>A (p.Gln2342=) c.6912G>A (p.Gln2304=) c.6981G>A (p.Gln2327=) c.6609G>A (p.Gln2203=) c.6765G>A (p.Gln2255=) c.6972G>A (p.Gln2324=) c.6273G>A (p.Gln2091=) c.7020G>A (p.Gln2340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728022T>A | CA394550773 | CREBBP | c.7025A>T (p.Gln2342Leu) c.6911A>T (p.Gln2304Leu) c.6980A>T (p.Gln2327Leu) c.6608A>T (p.Gln2203Leu) c.6764A>T (p.Gln2255Leu) c.6971A>T (p.Gln2324Leu) c.6272A>T (p.Gln2091Leu) c.7019A>T (p.Gln2340Leu) | |
16 | g.3728022T>C | CA394550775 | CREBBP | c.7025A>G (p.Gln2342Arg) c.6911A>G (p.Gln2304Arg) c.6980A>G (p.Gln2327Arg) c.6608A>G (p.Gln2203Arg) c.6764A>G (p.Gln2255Arg) c.6971A>G (p.Gln2324Arg) c.6272A>G (p.Gln2091Arg) c.7019A>G (p.Gln2340Arg) | |
16 | g.3728022T>G | CA394550777 | CREBBP | c.7025A>C (p.Gln2342Pro) c.6911A>C (p.Gln2304Pro) c.6980A>C (p.Gln2327Pro) c.6608A>C (p.Gln2203Pro) c.6764A>C (p.Gln2255Pro) c.6971A>C (p.Gln2324Pro) c.6272A>C (p.Gln2091Pro) c.7019A>C (p.Gln2340Pro) | |
16 | g.3728023G>A | CA7868961 | CREBBP | c.7024C>T (p.Gln2342Ter) c.6910C>T (p.Gln2304Ter) c.6979C>T (p.Gln2327Ter) c.6607C>T (p.Gln2203Ter) c.6763C>T (p.Gln2255Ter) c.6970C>T (p.Gln2324Ter) c.6271C>T (p.Gln2091Ter) c.7018C>T (p.Gln2340Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728023G>C | CA394550780 | CREBBP | c.7024C>G (p.Gln2342Glu) c.6910C>G (p.Gln2304Glu) c.6979C>G (p.Gln2327Glu) c.6607C>G (p.Gln2203Glu) c.6763C>G (p.Gln2255Glu) c.6970C>G (p.Gln2324Glu) c.6271C>G (p.Gln2091Glu) c.7018C>G (p.Gln2340Glu) | dbSNP |
16 | g.3728023G= | CA2202928447 | CREBBP | c.7024C= (p.Gln2342=) c.6910C= (p.Gln2304=) c.6979C= (p.Gln2327=) c.6607C= (p.Gln2203=) c.6763C= (p.Gln2255=) c.6970C= (p.Gln2324=) c.6271C= (p.Gln2091=) c.7018C= (p.Gln2340=) | |
16 | g.3728023G>T | CA394550782 | CREBBP | c.7024C>A (p.Gln2342Lys) c.6910C>A (p.Gln2304Lys) c.6979C>A (p.Gln2327Lys) c.6607C>A (p.Gln2203Lys) c.6763C>A (p.Gln2255Lys) c.6970C>A (p.Gln2324Lys) c.6271C>A (p.Gln2091Lys) c.7018C>A (p.Gln2340Lys) | dbSNP |
16 | g.3728024G>A | CA493393470 | CREBBP | c.7023C>T (p.Asn2341=) c.6909C>T (p.Asn2303=) c.6978C>T (p.Asn2326=) c.6606C>T (p.Asn2202=) c.6762C>T (p.Asn2254=) c.6969C>T (p.Asn2323=) c.6270C>T (p.Asn2090=) c.7017C>T (p.Asn2339=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728024G>C | CA394550784 | CREBBP | c.7023C>G (p.Asn2341Lys) c.6909C>G (p.Asn2303Lys) c.6978C>G (p.Asn2326Lys) c.6606C>G (p.Asn2202Lys) c.6762C>G (p.Asn2254Lys) c.6969C>G (p.Asn2323Lys) c.6270C>G (p.Asn2090Lys) c.7017C>G (p.Asn2339Lys) | ClinVar |
16 | g.3728024G= | CA2202928448 | CREBBP | c.7023C= (p.Asn2341=) c.6909C= (p.Asn2303=) c.6978C= (p.Asn2326=) c.6606C= (p.Asn2202=) c.6762C= (p.Asn2254=) c.6969C= (p.Asn2323=) c.6270C= (p.Asn2090=) c.7017C= (p.Asn2339=) | |
16 | g.3728024G>T | CA394550785 | CREBBP | c.7023C>A (p.Asn2341Lys) c.6909C>A (p.Asn2303Lys) c.6978C>A (p.Asn2326Lys) c.6606C>A (p.Asn2202Lys) c.6762C>A (p.Asn2254Lys) c.6969C>A (p.Asn2323Lys) c.6270C>A (p.Asn2090Lys) c.7017C>A (p.Asn2339Lys) | gnomAD v4 COSMIC |
16 | g.3728025T>A | CA394550786 | CREBBP | c.7022A>T (p.Asn2341Ile) c.6908A>T (p.Asn2303Ile) c.6977A>T (p.Asn2326Ile) c.6605A>T (p.Asn2202Ile) c.6761A>T (p.Asn2254Ile) c.6968A>T (p.Asn2323Ile) c.6269A>T (p.Asn2090Ile) c.7016A>T (p.Asn2339Ile) | dbSNP |
16 | g.3728025T>C | CA394550788 | CREBBP | c.7022A>G (p.Asn2341Ser) c.6908A>G (p.Asn2303Ser) c.6977A>G (p.Asn2326Ser) c.6605A>G (p.Asn2202Ser) c.6761A>G (p.Asn2254Ser) c.6968A>G (p.Asn2323Ser) c.6269A>G (p.Asn2090Ser) c.7016A>G (p.Asn2339Ser) | |
16 | g.3728025T>G | CA394550789 | CREBBP | c.7022A>C (p.Asn2341Thr) c.6908A>C (p.Asn2303Thr) c.6977A>C (p.Asn2326Thr) c.6605A>C (p.Asn2202Thr) c.6761A>C (p.Asn2254Thr) c.6968A>C (p.Asn2323Thr) c.6269A>C (p.Asn2090Thr) c.7016A>C (p.Asn2339Thr) | dbSNP |
16 | g.3728026T>A | CA394550792 | CREBBP | c.7021A>T (p.Asn2341Tyr) c.6907A>T (p.Asn2303Tyr) c.6976A>T (p.Asn2326Tyr) c.6604A>T (p.Asn2202Tyr) c.6760A>T (p.Asn2254Tyr) c.6967A>T (p.Asn2323Tyr) c.6268A>T (p.Asn2090Tyr) c.7015A>T (p.Asn2339Tyr) | |
16 | g.3728026T>C | CA394550794 | CREBBP | c.7021A>G (p.Asn2341Asp) c.6907A>G (p.Asn2303Asp) c.6976A>G (p.Asn2326Asp) c.6604A>G (p.Asn2202Asp) c.6760A>G (p.Asn2254Asp) c.6967A>G (p.Asn2323Asp) c.6268A>G (p.Asn2090Asp) c.7015A>G (p.Asn2339Asp) | dbSNP |
16 | g.3728026T>G | CA394550796 | CREBBP | c.7021A>C (p.Asn2341His) c.6907A>C (p.Asn2303His) c.6976A>C (p.Asn2326His) c.6604A>C (p.Asn2202His) c.6760A>C (p.Asn2254His) c.6967A>C (p.Asn2323His) c.6268A>C (p.Asn2090His) c.7015A>C (p.Asn2339His) | |
16 | g.3728027A= | CA2202928449 | CREBBP | c.7020T= (p.Ser2340=) c.6906T= (p.Ser2302=) c.6975T= (p.Ser2325=) c.6603T= (p.Ser2201=) c.6759T= (p.Ser2253=) c.6966T= (p.Ser2322=) c.6267T= (p.Ser2089=) c.7014T= (p.Ser2338=) | |
16 | g.3728027A>C | CA394550798 | CREBBP | c.7020T>G (p.Ser2340Arg) c.6906T>G (p.Ser2302Arg) c.6975T>G (p.Ser2325Arg) c.6603T>G (p.Ser2201Arg) c.6759T>G (p.Ser2253Arg) c.6966T>G (p.Ser2322Arg) c.6267T>G (p.Ser2089Arg) c.7014T>G (p.Ser2338Arg) | dbSNP |
16 | g.3728027A>G | CA493393475 | CREBBP | c.7020T>C (p.Ser2340=) c.6906T>C (p.Ser2302=) c.6975T>C (p.Ser2325=) c.6603T>C (p.Ser2201=) c.6759T>C (p.Ser2253=) c.6966T>C (p.Ser2322=) c.6267T>C (p.Ser2089=) c.7014T>C (p.Ser2338=) | |
16 | g.3728027A>T | CA394550799 | CREBBP | c.7020T>A (p.Ser2340Arg) c.6906T>A (p.Ser2302Arg) c.6975T>A (p.Ser2325Arg) c.6603T>A (p.Ser2201Arg) c.6759T>A (p.Ser2253Arg) c.6966T>A (p.Ser2322Arg) c.6267T>A (p.Ser2089Arg) c.7014T>A (p.Ser2338Arg) | dbSNP |
16 | g.3728028C>A | CA394550801 | CREBBP | c.7019G>T (p.Ser2340Ile) c.6905G>T (p.Ser2302Ile) c.6974G>T (p.Ser2325Ile) c.6602G>T (p.Ser2201Ile) c.6758G>T (p.Ser2253Ile) c.6965G>T (p.Ser2322Ile) c.6266G>T (p.Ser2089Ile) c.7013G>T (p.Ser2338Ile) | |
16 | g.3728028C>G | CA394550803 | CREBBP | c.7019G>C (p.Ser2340Thr) c.6905G>C (p.Ser2302Thr) c.6974G>C (p.Ser2325Thr) c.6602G>C (p.Ser2201Thr) c.6758G>C (p.Ser2253Thr) c.6965G>C (p.Ser2322Thr) c.6266G>C (p.Ser2089Thr) c.7013G>C (p.Ser2338Thr) | dbSNP gnomAD v4 |
16 | g.3728028C>T | CA394550805 | CREBBP | c.7019G>A (p.Ser2340Asn) c.6905G>A (p.Ser2302Asn) c.6974G>A (p.Ser2325Asn) c.6602G>A (p.Ser2201Asn) c.6758G>A (p.Ser2253Asn) c.6965G>A (p.Ser2322Asn) c.6266G>A (p.Ser2089Asn) c.7013G>A (p.Ser2338Asn) | dbSNP gnomAD v4 |
16 | g.3728029T>A | CA394550808 | CREBBP | c.7018A>T (p.Ser2340Cys) c.6904A>T (p.Ser2302Cys) c.6973A>T (p.Ser2325Cys) c.6601A>T (p.Ser2201Cys) c.6757A>T (p.Ser2253Cys) c.6964A>T (p.Ser2322Cys) c.6265A>T (p.Ser2089Cys) c.7012A>T (p.Ser2338Cys) | |
16 | g.3728029T>C | CA7868962 | CREBBP | c.7018A>G (p.Ser2340Gly) c.6904A>G (p.Ser2302Gly) c.6973A>G (p.Ser2325Gly) c.6601A>G (p.Ser2201Gly) c.6757A>G (p.Ser2253Gly) c.6964A>G (p.Ser2322Gly) c.6265A>G (p.Ser2089Gly) c.7012A>G (p.Ser2338Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728029T>G | CA394550809 | CREBBP | c.7018A>C (p.Ser2340Arg) c.6904A>C (p.Ser2302Arg) c.6973A>C (p.Ser2325Arg) c.6601A>C (p.Ser2201Arg) c.6757A>C (p.Ser2253Arg) c.6964A>C (p.Ser2322Arg) c.6265A>C (p.Ser2089Arg) c.7012A>C (p.Ser2338Arg) | ClinVar gnomAD v4 |
16 | g.3728029T= | CA2202928450 | CREBBP | c.7018A= (p.Ser2340=) c.6904A= (p.Ser2302=) c.6973A= (p.Ser2325=) c.6601A= (p.Ser2201=) c.6757A= (p.Ser2253=) c.6964A= (p.Ser2322=) c.6265A= (p.Ser2089=) c.7012A= (p.Ser2338=) | |
16 | g.3728030A>C | CA493393479 | CREBBP | c.7017T>G (p.Leu2339=) c.6903T>G (p.Leu2301=) c.6972T>G (p.Leu2324=) c.6600T>G (p.Leu2200=) c.6756T>G (p.Leu2252=) c.6963T>G (p.Leu2321=) c.6264T>G (p.Leu2088=) c.7011T>G (p.Leu2337=) | |
16 | g.3728030A>G | CA493393480 | CREBBP | c.7017T>C (p.Leu2339=) c.6903T>C (p.Leu2301=) c.6972T>C (p.Leu2324=) c.6600T>C (p.Leu2200=) c.6756T>C (p.Leu2252=) c.6963T>C (p.Leu2321=) c.6264T>C (p.Leu2088=) c.7011T>C (p.Leu2337=) | |
16 | g.3728030A>T | CA493393483 | CREBBP | c.7017T>A (p.Leu2339=) c.6903T>A (p.Leu2301=) c.6972T>A (p.Leu2324=) c.6600T>A (p.Leu2200=) c.6756T>A (p.Leu2252=) c.6963T>A (p.Leu2321=) c.6264T>A (p.Leu2088=) c.7011T>A (p.Leu2337=) | dbSNP |
16 | g.3728031A>C | CA394550812 | CREBBP | c.7016T>G (p.Leu2339Arg) c.6902T>G (p.Leu2301Arg) c.6971T>G (p.Leu2324Arg) c.6599T>G (p.Leu2200Arg) c.6755T>G (p.Leu2252Arg) c.6962T>G (p.Leu2321Arg) c.6263T>G (p.Leu2088Arg) c.7010T>G (p.Leu2337Arg) | dbSNP |
16 | g.3728031A>G | CA394550813 | CREBBP | c.7016T>C (p.Leu2339Pro) c.6902T>C (p.Leu2301Pro) c.6971T>C (p.Leu2324Pro) c.6599T>C (p.Leu2200Pro) c.6755T>C (p.Leu2252Pro) c.6962T>C (p.Leu2321Pro) c.6263T>C (p.Leu2088Pro) c.7010T>C (p.Leu2337Pro) | dbSNP |
16 | g.3728031A>T | CA394550815 | CREBBP | c.7016T>A (p.Leu2339His) c.6902T>A (p.Leu2301His) c.6971T>A (p.Leu2324His) c.6599T>A (p.Leu2200His) c.6755T>A (p.Leu2252His) c.6962T>A (p.Leu2321His) c.6263T>A (p.Leu2088His) c.7010T>A (p.Leu2337His) | dbSNP |
16 | g.3728032G>A | CA394550817 | CREBBP | c.7015C>T (p.Leu2339Phe) c.6901C>T (p.Leu2301Phe) c.6970C>T (p.Leu2324Phe) c.6598C>T (p.Leu2200Phe) c.6754C>T (p.Leu2252Phe) c.6961C>T (p.Leu2321Phe) c.6262C>T (p.Leu2088Phe) c.7009C>T (p.Leu2337Phe) | dbSNP |
16 | g.3728032G>C | CA394550818 | CREBBP | c.7015C>G (p.Leu2339Val) c.6901C>G (p.Leu2301Val) c.6970C>G (p.Leu2324Val) c.6598C>G (p.Leu2200Val) c.6754C>G (p.Leu2252Val) c.6961C>G (p.Leu2321Val) c.6262C>G (p.Leu2088Val) c.7009C>G (p.Leu2337Val) | dbSNP gnomAD v4 |
16 | g.3728032G>T | CA394550820 | CREBBP | c.7015C>A (p.Leu2339Ile) c.6901C>A (p.Leu2301Ile) c.6970C>A (p.Leu2324Ile) c.6598C>A (p.Leu2200Ile) c.6754C>A (p.Leu2252Ile) c.6961C>A (p.Leu2321Ile) c.6262C>A (p.Leu2088Ile) c.7009C>A (p.Leu2337Ile) | dbSNP |
16 | g.3728033G>A | CA7868963 | CREBBP | c.7014C>T (p.Ser2338=) c.6900C>T (p.Ser2300=) c.6969C>T (p.Ser2323=) c.6597C>T (p.Ser2199=) c.6753C>T (p.Ser2251=) c.6960C>T (p.Ser2320=) c.6261C>T (p.Ser2087=) c.7008C>T (p.Ser2336=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728033G>C | CA493393484 | CREBBP | c.7014C>G (p.Ser2338=) c.6900C>G (p.Ser2300=) c.6969C>G (p.Ser2323=) c.6597C>G (p.Ser2199=) c.6753C>G (p.Ser2251=) c.6960C>G (p.Ser2320=) c.6261C>G (p.Ser2087=) c.7008C>G (p.Ser2336=) | dbSNP |
16 | g.3728033G= | CA2202928451 | CREBBP | c.7014C= (p.Ser2338=) c.6900C= (p.Ser2300=) c.6969C= (p.Ser2323=) c.6597C= (p.Ser2199=) c.6753C= (p.Ser2251=) c.6960C= (p.Ser2320=) c.6261C= (p.Ser2087=) c.7008C= (p.Ser2336=) | |
16 | g.3728033G>T | CA493393486 | CREBBP | c.7014C>A (p.Ser2338=) c.6900C>A (p.Ser2300=) c.6969C>A (p.Ser2323=) c.6597C>A (p.Ser2199=) c.6753C>A (p.Ser2251=) c.6960C>A (p.Ser2320=) c.6261C>A (p.Ser2087=) c.7008C>A (p.Ser2336=) | dbSNP |
16 | g.3728034G>A | CA394550823 | CREBBP | c.7013C>T (p.Ser2338Phe) c.6899C>T (p.Ser2300Phe) c.6968C>T (p.Ser2323Phe) c.6596C>T (p.Ser2199Phe) c.6752C>T (p.Ser2251Phe) c.6959C>T (p.Ser2320Phe) c.6260C>T (p.Ser2087Phe) c.7007C>T (p.Ser2336Phe) | dbSNP |
16 | g.3728034G>C | CA394550826 | CREBBP | c.7013C>G (p.Ser2338Cys) c.6899C>G (p.Ser2300Cys) c.6968C>G (p.Ser2323Cys) c.6596C>G (p.Ser2199Cys) c.6752C>G (p.Ser2251Cys) c.6959C>G (p.Ser2320Cys) c.6260C>G (p.Ser2087Cys) c.7007C>G (p.Ser2336Cys) | dbSNP COSMIC |
16 | g.3728034G>T | CA394550824 | CREBBP | c.7013C>A (p.Ser2338Tyr) c.6899C>A (p.Ser2300Tyr) c.6968C>A (p.Ser2323Tyr) c.6596C>A (p.Ser2199Tyr) c.6752C>A (p.Ser2251Tyr) c.6959C>A (p.Ser2320Tyr) c.6260C>A (p.Ser2087Tyr) c.7007C>A (p.Ser2336Tyr) | |
16 | g.3728035A>C | CA394550829 | CREBBP | c.7012T>G (p.Ser2338Ala) c.6898T>G (p.Ser2300Ala) c.6967T>G (p.Ser2323Ala) c.6595T>G (p.Ser2199Ala) c.6751T>G (p.Ser2251Ala) c.6958T>G (p.Ser2320Ala) c.6259T>G (p.Ser2087Ala) c.7006T>G (p.Ser2336Ala) | dbSNP |
16 | g.3728035A>G | CA394550830 | CREBBP | c.7012T>C (p.Ser2338Pro) c.6898T>C (p.Ser2300Pro) c.6967T>C (p.Ser2323Pro) c.6595T>C (p.Ser2199Pro) c.6751T>C (p.Ser2251Pro) c.6958T>C (p.Ser2320Pro) c.6259T>C (p.Ser2087Pro) c.7006T>C (p.Ser2336Pro) | dbSNP |
16 | g.3728035A>T | CA394550832 | CREBBP | c.7012T>A (p.Ser2338Thr) c.6898T>A (p.Ser2300Thr) c.6967T>A (p.Ser2323Thr) c.6595T>A (p.Ser2199Thr) c.6751T>A (p.Ser2251Thr) c.6958T>A (p.Ser2320Thr) c.6259T>A (p.Ser2087Thr) c.7006T>A (p.Ser2336Thr) | dbSNP gnomAD v4 |
16 | g.3728036C>A | CA493393492 | CREBBP | c.7011G>T (p.Thr2337=) c.6897G>T (p.Thr2299=) c.6966G>T (p.Thr2322=) c.6594G>T (p.Thr2198=) c.6750G>T (p.Thr2250=) c.6957G>T (p.Thr2319=) c.6258G>T (p.Thr2086=) c.7005G>T (p.Thr2335=) | dbSNP gnomAD v4 |
16 | g.3728036C= | CA2202928452 | CREBBP | c.7011G= (p.Thr2337=) c.6897G= (p.Thr2299=) c.6966G= (p.Thr2322=) c.6594G= (p.Thr2198=) c.6750G= (p.Thr2250=) c.6957G= (p.Thr2319=) c.6258G= (p.Thr2086=) c.7005G= (p.Thr2335=) | |
16 | g.3728036C>G | CA493393493 | CREBBP | c.7011G>C (p.Thr2337=) c.6897G>C (p.Thr2299=) c.6966G>C (p.Thr2322=) c.6594G>C (p.Thr2198=) c.6750G>C (p.Thr2250=) c.6957G>C (p.Thr2319=) c.6258G>C (p.Thr2086=) c.7005G>C (p.Thr2335=) | ClinVar dbSNP gnomAD v4 |
16 | g.3728036C>T | CA7868964 | CREBBP | c.7011G>A (p.Thr2337=) c.6897G>A (p.Thr2299=) c.6966G>A (p.Thr2322=) c.6594G>A (p.Thr2198=) c.6750G>A (p.Thr2250=) c.6957G>A (p.Thr2319=) c.6258G>A (p.Thr2086=) c.7005G>A (p.Thr2335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728037G>A | CA7868965 | CREBBP | c.7010C>T (p.Thr2337Met) c.6896C>T (p.Thr2299Met) c.6965C>T (p.Thr2322Met) c.6593C>T (p.Thr2198Met) c.6749C>T (p.Thr2250Met) c.6956C>T (p.Thr2319Met) c.6257C>T (p.Thr2086Met) c.7004C>T (p.Thr2335Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728037G>C | CA394550836 | CREBBP | c.7010C>G (p.Thr2337Arg) c.6896C>G (p.Thr2299Arg) c.6965C>G (p.Thr2322Arg) c.6593C>G (p.Thr2198Arg) c.6749C>G (p.Thr2250Arg) c.6956C>G (p.Thr2319Arg) c.6257C>G (p.Thr2086Arg) c.7004C>G (p.Thr2335Arg) | dbSNP |
16 | g.3728037G= | CA2202928453 | CREBBP | c.7010C= (p.Thr2337=) c.6896C= (p.Thr2299=) c.6965C= (p.Thr2322=) c.6593C= (p.Thr2198=) c.6749C= (p.Thr2250=) c.6956C= (p.Thr2319=) c.6257C= (p.Thr2086=) c.7004C= (p.Thr2335=) | |
16 | g.3728037G>T | CA394550838 | CREBBP | c.7010C>A (p.Thr2337Lys) c.6896C>A (p.Thr2299Lys) c.6965C>A (p.Thr2322Lys) c.6593C>A (p.Thr2198Lys) c.6749C>A (p.Thr2250Lys) c.6956C>A (p.Thr2319Lys) c.6257C>A (p.Thr2086Lys) c.7004C>A (p.Thr2335Lys) | |
16 | g.3728038T>A | CA394550840 | CREBBP | c.7009A>T (p.Thr2337Ser) c.6895A>T (p.Thr2299Ser) c.6964A>T (p.Thr2322Ser) c.6592A>T (p.Thr2198Ser) c.6748A>T (p.Thr2250Ser) c.6955A>T (p.Thr2319Ser) c.6256A>T (p.Thr2086Ser) c.7003A>T (p.Thr2335Ser) | gnomAD v4 |
16 | g.3728038T>C | CA394550842 | CREBBP | c.7009A>G (p.Thr2337Ala) c.6895A>G (p.Thr2299Ala) c.6964A>G (p.Thr2322Ala) c.6592A>G (p.Thr2198Ala) c.6748A>G (p.Thr2250Ala) c.6955A>G (p.Thr2319Ala) c.6256A>G (p.Thr2086Ala) c.7003A>G (p.Thr2335Ala) | |
16 | g.3728038T>G | CA394550844 | CREBBP | c.7009A>C (p.Thr2337Pro) c.6895A>C (p.Thr2299Pro) c.6964A>C (p.Thr2322Pro) c.6592A>C (p.Thr2198Pro) c.6748A>C (p.Thr2250Pro) c.6955A>C (p.Thr2319Pro) c.6256A>C (p.Thr2086Pro) c.7003A>C (p.Thr2335Pro) | |
16 | g.3728039G>A | CA493393496 | CREBBP | c.7008C>T (p.Ala2336=) c.6894C>T (p.Ala2298=) c.6963C>T (p.Ala2321=) c.6591C>T (p.Ala2197=) c.6747C>T (p.Ala2249=) c.6954C>T (p.Ala2318=) c.6255C>T (p.Ala2085=) c.7002C>T (p.Ala2334=) | |
16 | g.3728039G>C | CA493393494 | CREBBP | c.7008C>G (p.Ala2336=) c.6894C>G (p.Ala2298=) c.6963C>G (p.Ala2321=) c.6591C>G (p.Ala2197=) c.6747C>G (p.Ala2249=) c.6954C>G (p.Ala2318=) c.6255C>G (p.Ala2085=) c.7002C>G (p.Ala2334=) | dbSNP gnomAD v4 |
16 | g.3728039G>T | CA493393495 | CREBBP | c.7008C>A (p.Ala2336=) c.6894C>A (p.Ala2298=) c.6963C>A (p.Ala2321=) c.6591C>A (p.Ala2197=) c.6747C>A (p.Ala2249=) c.6954C>A (p.Ala2318=) c.6255C>A (p.Ala2085=) c.7002C>A (p.Ala2334=) | dbSNP |
16 | g.3728040G>A | CA394550846 | CREBBP | c.7007C>T (p.Ala2336Val) c.6893C>T (p.Ala2298Val) c.6962C>T (p.Ala2321Val) c.6590C>T (p.Ala2197Val) c.6746C>T (p.Ala2249Val) c.6953C>T (p.Ala2318Val) c.6254C>T (p.Ala2085Val) c.7001C>T (p.Ala2334Val) | dbSNP |
16 | g.3728040G>C | CA394550847 | CREBBP | c.7007C>G (p.Ala2336Gly) c.6893C>G (p.Ala2298Gly) c.6962C>G (p.Ala2321Gly) c.6590C>G (p.Ala2197Gly) c.6746C>G (p.Ala2249Gly) c.6953C>G (p.Ala2318Gly) c.6254C>G (p.Ala2085Gly) c.7001C>G (p.Ala2334Gly) | dbSNP |
16 | g.3728040G>T | CA394550849 | CREBBP | c.7007C>A (p.Ala2336Asp) c.6893C>A (p.Ala2298Asp) c.6962C>A (p.Ala2321Asp) c.6590C>A (p.Ala2197Asp) c.6746C>A (p.Ala2249Asp) c.6953C>A (p.Ala2318Asp) c.6254C>A (p.Ala2085Asp) c.7001C>A (p.Ala2334Asp) | dbSNP |
16 | g.3728041C>A | CA394550853 | CREBBP | c.7006G>T (p.Ala2336Ser) c.6892G>T (p.Ala2298Ser) c.6961G>T (p.Ala2321Ser) c.6589G>T (p.Ala2197Ser) c.6745G>T (p.Ala2249Ser) c.6952G>T (p.Ala2318Ser) c.6253G>T (p.Ala2085Ser) c.7000G>T (p.Ala2334Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728041C= | CA2202928454 | CREBBP | c.7006G= (p.Ala2336=) c.6892G= (p.Ala2298=) c.6961G= (p.Ala2321=) c.6589G= (p.Ala2197=) c.6745G= (p.Ala2249=) c.6952G= (p.Ala2318=) c.6253G= (p.Ala2085=) c.7000G= (p.Ala2334=) | |
16 | g.3728041C>G | CA394550850 | CREBBP | c.7006G>C (p.Ala2336Pro) c.6892G>C (p.Ala2298Pro) c.6961G>C (p.Ala2321Pro) c.6589G>C (p.Ala2197Pro) c.6745G>C (p.Ala2249Pro) c.6952G>C (p.Ala2318Pro) c.6253G>C (p.Ala2085Pro) c.7000G>C (p.Ala2334Pro) | dbSNP |
16 | g.3728041C>T | CA276971136 | CREBBP | c.7006G>A (p.Ala2336Thr) c.6892G>A (p.Ala2298Thr) c.6961G>A (p.Ala2321Thr) c.6589G>A (p.Ala2197Thr) c.6745G>A (p.Ala2249Thr) c.6952G>A (p.Ala2318Thr) c.6253G>A (p.Ala2085Thr) c.7000G>A (p.Ala2334Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728042G>A | CA276971138 | CREBBP | c.7005C>T (p.Ile2335=) c.6891C>T (p.Ile2297=) c.6960C>T (p.Ile2320=) c.6588C>T (p.Ile2196=) c.6744C>T (p.Ile2248=) c.6951C>T (p.Ile2317=) c.6252C>T (p.Ile2084=) c.6999C>T (p.Ile2333=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728042G>C | CA7868967 | CREBBP | c.7005C>G (p.Ile2335Met) c.6891C>G (p.Ile2297Met) c.6960C>G (p.Ile2320Met) c.6588C>G (p.Ile2196Met) c.6744C>G (p.Ile2248Met) c.6951C>G (p.Ile2317Met) c.6252C>G (p.Ile2084Met) c.6999C>G (p.Ile2333Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728042G= | CA2202928455 | CREBBP | c.7005C= (p.Ile2335=) c.6891C= (p.Ile2297=) c.6960C= (p.Ile2320=) c.6588C= (p.Ile2196=) c.6744C= (p.Ile2248=) c.6951C= (p.Ile2317=) c.6252C= (p.Ile2084=) c.6999C= (p.Ile2333=) | |
16 | g.3728042G>T | CA7868966 | CREBBP | c.7005C>A (p.Ile2335=) c.6891C>A (p.Ile2297=) c.6960C>A (p.Ile2320=) c.6588C>A (p.Ile2196=) c.6744C>A (p.Ile2248=) c.6951C>A (p.Ile2317=) c.6252C>A (p.Ile2084=) c.6999C>A (p.Ile2333=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728043A>C | CA394550858 | CREBBP | c.7004T>G (p.Ile2335Ser) c.6890T>G (p.Ile2297Ser) c.6959T>G (p.Ile2320Ser) c.6587T>G (p.Ile2196Ser) c.6743T>G (p.Ile2248Ser) c.6950T>G (p.Ile2317Ser) c.6251T>G (p.Ile2084Ser) c.6998T>G (p.Ile2333Ser) | dbSNP |
16 | g.3728043A>G | CA394550860 | CREBBP | c.7004T>C (p.Ile2335Thr) c.6890T>C (p.Ile2297Thr) c.6959T>C (p.Ile2320Thr) c.6587T>C (p.Ile2196Thr) c.6743T>C (p.Ile2248Thr) c.6950T>C (p.Ile2317Thr) c.6251T>C (p.Ile2084Thr) c.6998T>C (p.Ile2333Thr) | |
16 | g.3728043A>T | CA394550862 | CREBBP | c.7004T>A (p.Ile2335Asn) c.6890T>A (p.Ile2297Asn) c.6959T>A (p.Ile2320Asn) c.6587T>A (p.Ile2196Asn) c.6743T>A (p.Ile2248Asn) c.6950T>A (p.Ile2317Asn) c.6251T>A (p.Ile2084Asn) c.6998T>A (p.Ile2333Asn) | dbSNP |
16 | g.3728044T>A | CA394550863 | CREBBP | c.7003A>T (p.Ile2335Phe) c.6889A>T (p.Ile2297Phe) c.6958A>T (p.Ile2320Phe) c.6586A>T (p.Ile2196Phe) c.6742A>T (p.Ile2248Phe) c.6949A>T (p.Ile2317Phe) c.6250A>T (p.Ile2084Phe) c.6997A>T (p.Ile2333Phe) | dbSNP gnomAD v4 |
16 | g.3728044T>C | CA394550864 | CREBBP | c.7003A>G (p.Ile2335Val) c.6889A>G (p.Ile2297Val) c.6958A>G (p.Ile2320Val) c.6586A>G (p.Ile2196Val) c.6742A>G (p.Ile2248Val) c.6949A>G (p.Ile2317Val) c.6250A>G (p.Ile2084Val) c.6997A>G (p.Ile2333Val) | dbSNP |
16 | g.3728044T>G | CA394550866 | CREBBP | c.7003A>C (p.Ile2335Leu) c.6889A>C (p.Ile2297Leu) c.6958A>C (p.Ile2320Leu) c.6586A>C (p.Ile2196Leu) c.6742A>C (p.Ile2248Leu) c.6949A>C (p.Ile2317Leu) c.6250A>C (p.Ile2084Leu) c.6997A>C (p.Ile2333Leu) | dbSNP |
16 | g.3728045C>A | CA394550868 | CREBBP | c.7002G>T (p.Gln2334His) c.6888G>T (p.Gln2296His) c.6957G>T (p.Gln2319His) c.6585G>T (p.Gln2195His) c.6741G>T (p.Gln2247His) c.6948G>T (p.Gln2316His) c.6249G>T (p.Gln2083His) c.6996G>T (p.Gln2332His) | dbSNP |
16 | g.3728045C= | CA2202928456 | CREBBP | c.7002G= (p.Gln2334=) c.6888G= (p.Gln2296=) c.6957G= (p.Gln2319=) c.6585G= (p.Gln2195=) c.6741G= (p.Gln2247=) c.6948G= (p.Gln2316=) c.6249G= (p.Gln2083=) c.6996G= (p.Gln2332=) | |
16 | g.3728045C>G | CA394550869 | CREBBP | c.7002G>C (p.Gln2334His) c.6888G>C (p.Gln2296His) c.6957G>C (p.Gln2319His) c.6585G>C (p.Gln2195His) c.6741G>C (p.Gln2247His) c.6948G>C (p.Gln2316His) c.6249G>C (p.Gln2083His) c.6996G>C (p.Gln2332His) | ClinVar dbSNP |
16 | g.3728045C>T | CA493393497 | CREBBP | c.7002G>A (p.Gln2334=) c.6888G>A (p.Gln2296=) c.6957G>A (p.Gln2319=) c.6585G>A (p.Gln2195=) c.6741G>A (p.Gln2247=) c.6948G>A (p.Gln2316=) c.6249G>A (p.Gln2083=) c.6996G>A (p.Gln2332=) | dbSNP |
16 | g.3728046T>A | CA394550872 | CREBBP | c.7001A>T (p.Gln2334Leu) c.6887A>T (p.Gln2296Leu) c.6956A>T (p.Gln2319Leu) c.6584A>T (p.Gln2195Leu) c.6740A>T (p.Gln2247Leu) c.6947A>T (p.Gln2316Leu) c.6248A>T (p.Gln2083Leu) c.6995A>T (p.Gln2332Leu) | |
16 | g.3728046T>C | CA394550875 | CREBBP | c.7001A>G (p.Gln2334Arg) c.6887A>G (p.Gln2296Arg) c.6956A>G (p.Gln2319Arg) c.6584A>G (p.Gln2195Arg) c.6740A>G (p.Gln2247Arg) c.6947A>G (p.Gln2316Arg) c.6248A>G (p.Gln2083Arg) c.6995A>G (p.Gln2332Arg) | |
16 | g.3728046T>G | CA394550873 | CREBBP | c.7001A>C (p.Gln2334Pro) c.6887A>C (p.Gln2296Pro) c.6956A>C (p.Gln2319Pro) c.6584A>C (p.Gln2195Pro) c.6740A>C (p.Gln2247Pro) c.6947A>C (p.Gln2316Pro) c.6248A>C (p.Gln2083Pro) c.6995A>C (p.Gln2332Pro) |