Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
16 | g.3728047G>A | CA394550877 | CREBBP | c.7000C>T (p.Gln2334Ter) c.6886C>T (p.Gln2296Ter) c.6955C>T (p.Gln2319Ter) c.6583C>T (p.Gln2195Ter) c.6739C>T (p.Gln2247Ter) c.6946C>T (p.Gln2316Ter) c.6247C>T (p.Gln2083Ter) c.6994C>T (p.Gln2332Ter) | dbSNP |
16 | g.3728047G>C | CA394550881 | CREBBP | c.7000C>G (p.Gln2334Glu) c.6886C>G (p.Gln2296Glu) c.6955C>G (p.Gln2319Glu) c.6583C>G (p.Gln2195Glu) c.6739C>G (p.Gln2247Glu) c.6946C>G (p.Gln2316Glu) c.6247C>G (p.Gln2083Glu) c.6994C>G (p.Gln2332Glu) | dbSNP |
16 | g.3728047G>T | CA394550879 | CREBBP | c.7000C>A (p.Gln2334Lys) c.6886C>A (p.Gln2296Lys) c.6955C>A (p.Gln2319Lys) c.6583C>A (p.Gln2195Lys) c.6739C>A (p.Gln2247Lys) c.6946C>A (p.Gln2316Lys) c.6247C>A (p.Gln2083Lys) c.6994C>A (p.Gln2332Lys) | dbSNP |
16 | g.3728048C>A | CA394550883 | CREBBP | c.6999G>T (p.Gln2333His) c.6885G>T (p.Gln2295His) c.6954G>T (p.Gln2318His) c.6582G>T (p.Gln2194His) c.6738G>T (p.Gln2246His) c.6945G>T (p.Gln2315His) c.6246G>T (p.Gln2082His) c.6993G>T (p.Gln2331His) | dbSNP |
16 | g.3728048C= | CA2202928457 | CREBBP | c.6999G= (p.Gln2333=) c.6885G= (p.Gln2295=) c.6954G= (p.Gln2318=) c.6582G= (p.Gln2194=) c.6738G= (p.Gln2246=) c.6945G= (p.Gln2315=) c.6246G= (p.Gln2082=) c.6993G= (p.Gln2331=) | |
16 | g.3728048C>G | CA394550885 | CREBBP | c.6999G>C (p.Gln2333His) c.6885G>C (p.Gln2295His) c.6954G>C (p.Gln2318His) c.6582G>C (p.Gln2194His) c.6738G>C (p.Gln2246His) c.6945G>C (p.Gln2315His) c.6246G>C (p.Gln2082His) c.6993G>C (p.Gln2331His) | dbSNP |
16 | g.3728048C>T | CA493393498 | CREBBP | c.6999G>A (p.Gln2333=) c.6885G>A (p.Gln2295=) c.6954G>A (p.Gln2318=) c.6582G>A (p.Gln2194=) c.6738G>A (p.Gln2246=) c.6945G>A (p.Gln2315=) c.6246G>A (p.Gln2082=) c.6993G>A (p.Gln2331=) | dbSNP gnomAD v4 |
16 | g.3728049T>A | CA394550887 | CREBBP | c.6998A>T (p.Gln2333Leu) c.6884A>T (p.Gln2295Leu) c.6953A>T (p.Gln2318Leu) c.6581A>T (p.Gln2194Leu) c.6737A>T (p.Gln2246Leu) c.6944A>T (p.Gln2315Leu) c.6245A>T (p.Gln2082Leu) c.6992A>T (p.Gln2331Leu) | gnomAD v4 |
16 | g.3728049T>C | CA394550889 | CREBBP | c.6998A>G (p.Gln2333Arg) c.6884A>G (p.Gln2295Arg) c.6953A>G (p.Gln2318Arg) c.6581A>G (p.Gln2194Arg) c.6737A>G (p.Gln2246Arg) c.6944A>G (p.Gln2315Arg) c.6245A>G (p.Gln2082Arg) c.6992A>G (p.Gln2331Arg) | dbSNP gnomAD v4 |
16 | g.3728049T>G | CA394550891 | CREBBP | c.6998A>C (p.Gln2333Pro) c.6884A>C (p.Gln2295Pro) c.6953A>C (p.Gln2318Pro) c.6581A>C (p.Gln2194Pro) c.6737A>C (p.Gln2246Pro) c.6944A>C (p.Gln2315Pro) c.6245A>C (p.Gln2082Pro) c.6992A>C (p.Gln2331Pro) | |
16 | g.3728049T= | CA2202928458 | CREBBP | c.6998A= (p.Gln2333=) c.6884A= (p.Gln2295=) c.6953A= (p.Gln2318=) c.6581A= (p.Gln2194=) c.6737A= (p.Gln2246=) c.6944A= (p.Gln2315=) c.6245A= (p.Gln2082=) c.6992A= (p.Gln2331=) | |
16 | g.3728050G>A | CA394550893 | CREBBP | c.6997C>T (p.Gln2333Ter) c.6883C>T (p.Gln2295Ter) c.6952C>T (p.Gln2318Ter) c.6580C>T (p.Gln2194Ter) c.6736C>T (p.Gln2246Ter) c.6943C>T (p.Gln2315Ter) c.6244C>T (p.Gln2082Ter) c.6991C>T (p.Gln2331Ter) | dbSNP |
16 | g.3728050G>C | CA394550895 | CREBBP | c.6997C>G (p.Gln2333Glu) c.6883C>G (p.Gln2295Glu) c.6952C>G (p.Gln2318Glu) c.6580C>G (p.Gln2194Glu) c.6736C>G (p.Gln2246Glu) c.6943C>G (p.Gln2315Glu) c.6244C>G (p.Gln2082Glu) c.6991C>G (p.Gln2331Glu) | dbSNP |
16 | g.3728050G= | CA2202928459 | CREBBP | c.6997C= (p.Gln2333=) c.6883C= (p.Gln2295=) c.6952C= (p.Gln2318=) c.6580C= (p.Gln2194=) c.6736C= (p.Gln2246=) c.6943C= (p.Gln2315=) c.6244C= (p.Gln2082=) c.6991C= (p.Gln2331=) | |
16 | g.3728050G>T | CA7868968 | CREBBP | c.6997C>A (p.Gln2333Lys) c.6883C>A (p.Gln2295Lys) c.6952C>A (p.Gln2318Lys) c.6580C>A (p.Gln2194Lys) c.6736C>A (p.Gln2246Lys) c.6943C>A (p.Gln2315Lys) c.6244C>A (p.Gln2082Lys) c.6991C>A (p.Gln2331Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728051del | CA2731849153 | CREBBP | c.6997del (p.Gln2333SerfsTer?) c.6883del (p.Gln2295SerfsTer?) c.6952del (p.Gln2318SerfsTer?) c.6580del (p.Gln2194SerfsTer?) c.6736del (p.Gln2246SerfsTer?) c.6943del (p.Gln2315SerfsTer?) c.6244del (p.Gln2082SerfsTer?) c.6991del (p.Gln2331SerfsTer?) | dbSNP |
16 | g.3728051G>A | CA493393499 | CREBBP | c.6996C>T (p.Gly2332=) c.6882C>T (p.Gly2294=) c.6951C>T (p.Gly2317=) c.6579C>T (p.Gly2193=) c.6735C>T (p.Gly2245=) c.6942C>T (p.Gly2314=) c.6243C>T (p.Gly2081=) c.6990C>T (p.Gly2330=) | |
16 | g.3728051G>C | CA493393500 | CREBBP | c.6996C>G (p.Gly2332=) c.6882C>G (p.Gly2294=) c.6951C>G (p.Gly2317=) c.6579C>G (p.Gly2193=) c.6735C>G (p.Gly2245=) c.6942C>G (p.Gly2314=) c.6243C>G (p.Gly2081=) c.6990C>G (p.Gly2330=) | |
16 | g.3728051G>T | CA493393502 | CREBBP | c.6996C>A (p.Gly2332=) c.6882C>A (p.Gly2294=) c.6951C>A (p.Gly2317=) c.6579C>A (p.Gly2193=) c.6735C>A (p.Gly2245=) c.6942C>A (p.Gly2314=) c.6243C>A (p.Gly2081=) c.6990C>A (p.Gly2330=) | |
16 | g.3728052C>A | CA394550897 | CREBBP | c.6995G>T (p.Gly2332Val) c.6881G>T (p.Gly2294Val) c.6950G>T (p.Gly2317Val) c.6578G>T (p.Gly2193Val) c.6734G>T (p.Gly2245Val) c.6941G>T (p.Gly2314Val) c.6242G>T (p.Gly2081Val) c.6989G>T (p.Gly2330Val) | dbSNP |
16 | g.3728052C>G | CA394550899 | CREBBP | c.6995G>C (p.Gly2332Ala) c.6881G>C (p.Gly2294Ala) c.6950G>C (p.Gly2317Ala) c.6578G>C (p.Gly2193Ala) c.6734G>C (p.Gly2245Ala) c.6941G>C (p.Gly2314Ala) c.6242G>C (p.Gly2081Ala) c.6989G>C (p.Gly2330Ala) | dbSNP |
16 | g.3728052C>T | CA394550901 | CREBBP | c.6995G>A (p.Gly2332Asp) c.6881G>A (p.Gly2294Asp) c.6950G>A (p.Gly2317Asp) c.6578G>A (p.Gly2193Asp) c.6734G>A (p.Gly2245Asp) c.6941G>A (p.Gly2314Asp) c.6242G>A (p.Gly2081Asp) c.6989G>A (p.Gly2330Asp) | dbSNP |
16 | g.3728053C>A | CA394550903 | CREBBP | c.6994G>T (p.Gly2332Cys) c.6880G>T (p.Gly2294Cys) c.6949G>T (p.Gly2317Cys) c.6577G>T (p.Gly2193Cys) c.6733G>T (p.Gly2245Cys) c.6940G>T (p.Gly2314Cys) c.6241G>T (p.Gly2081Cys) c.6988G>T (p.Gly2330Cys) | dbSNP |
16 | g.3728053C>G | CA394550905 | CREBBP | c.6994G>C (p.Gly2332Arg) c.6880G>C (p.Gly2294Arg) c.6949G>C (p.Gly2317Arg) c.6577G>C (p.Gly2193Arg) c.6733G>C (p.Gly2245Arg) c.6940G>C (p.Gly2314Arg) c.6241G>C (p.Gly2081Arg) c.6988G>C (p.Gly2330Arg) | dbSNP |
16 | g.3728053C>T | CA394550907 | CREBBP | c.6994G>A (p.Gly2332Ser) c.6880G>A (p.Gly2294Ser) c.6949G>A (p.Gly2317Ser) c.6577G>A (p.Gly2193Ser) c.6733G>A (p.Gly2245Ser) c.6940G>A (p.Gly2314Ser) c.6241G>A (p.Gly2081Ser) c.6988G>A (p.Gly2330Ser) | dbSNP gnomAD v4 |
16 | g.3728054A>C | CA493393503 | CREBBP | c.6993T>G (p.Pro2331=) c.6879T>G (p.Pro2293=) c.6948T>G (p.Pro2316=) c.6576T>G (p.Pro2192=) c.6732T>G (p.Pro2244=) c.6939T>G (p.Pro2313=) c.6240T>G (p.Pro2080=) c.6987T>G (p.Pro2329=) | |
16 | g.3728054A>G | CA493393504 | CREBBP | c.6993T>C (p.Pro2331=) c.6879T>C (p.Pro2293=) c.6948T>C (p.Pro2316=) c.6576T>C (p.Pro2192=) c.6732T>C (p.Pro2244=) c.6939T>C (p.Pro2313=) c.6240T>C (p.Pro2080=) c.6987T>C (p.Pro2329=) | |
16 | g.3728054A>T | CA493393505 | CREBBP | c.6993T>A (p.Pro2331=) c.6879T>A (p.Pro2293=) c.6948T>A (p.Pro2316=) c.6576T>A (p.Pro2192=) c.6732T>A (p.Pro2244=) c.6939T>A (p.Pro2313=) c.6240T>A (p.Pro2080=) c.6987T>A (p.Pro2329=) | |
16 | g.3728055G>A | CA394550913 | CREBBP | c.6992C>T (p.Pro2331Leu) c.6878C>T (p.Pro2293Leu) c.6947C>T (p.Pro2316Leu) c.6575C>T (p.Pro2192Leu) c.6731C>T (p.Pro2244Leu) c.6938C>T (p.Pro2313Leu) c.6239C>T (p.Pro2080Leu) c.6986C>T (p.Pro2329Leu) | |
16 | g.3728055G>C | CA394550909 | CREBBP | c.6992C>G (p.Pro2331Arg) c.6878C>G (p.Pro2293Arg) c.6947C>G (p.Pro2316Arg) c.6575C>G (p.Pro2192Arg) c.6731C>G (p.Pro2244Arg) c.6938C>G (p.Pro2313Arg) c.6239C>G (p.Pro2080Arg) c.6986C>G (p.Pro2329Arg) | |
16 | g.3728055G>T | CA394550911 | CREBBP | c.6992C>A (p.Pro2331His) c.6878C>A (p.Pro2293His) c.6947C>A (p.Pro2316His) c.6575C>A (p.Pro2192His) c.6731C>A (p.Pro2244His) c.6938C>A (p.Pro2313His) c.6239C>A (p.Pro2080His) c.6986C>A (p.Pro2329His) | |
16 | g.3728056G>A | CA394550915 | CREBBP | c.6991C>T (p.Pro2331Ser) c.6877C>T (p.Pro2293Ser) c.6946C>T (p.Pro2316Ser) c.6574C>T (p.Pro2192Ser) c.6730C>T (p.Pro2244Ser) c.6937C>T (p.Pro2313Ser) c.6238C>T (p.Pro2080Ser) c.6985C>T (p.Pro2329Ser) | dbSNP |
16 | g.3728056G>C | CA394550916 | CREBBP | c.6991C>G (p.Pro2331Ala) c.6877C>G (p.Pro2293Ala) c.6946C>G (p.Pro2316Ala) c.6574C>G (p.Pro2192Ala) c.6730C>G (p.Pro2244Ala) c.6937C>G (p.Pro2313Ala) c.6238C>G (p.Pro2080Ala) c.6985C>G (p.Pro2329Ala) | dbSNP |
16 | g.3728056G>T | CA394550918 | CREBBP | c.6991C>A (p.Pro2331Thr) c.6877C>A (p.Pro2293Thr) c.6946C>A (p.Pro2316Thr) c.6574C>A (p.Pro2192Thr) c.6730C>A (p.Pro2244Thr) c.6937C>A (p.Pro2313Thr) c.6238C>A (p.Pro2080Thr) c.6985C>A (p.Pro2329Thr) | dbSNP |
16 | g.3728057G>A | CA493393507 | CREBBP | c.6990C>T (p.Leu2330=) c.6876C>T (p.Leu2292=) c.6945C>T (p.Leu2315=) c.6573C>T (p.Leu2191=) c.6729C>T (p.Leu2243=) c.6936C>T (p.Leu2312=) c.6237C>T (p.Leu2079=) c.6984C>T (p.Leu2328=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728057G>C | CA493393509 | CREBBP | c.6990C>G (p.Leu2330=) c.6876C>G (p.Leu2292=) c.6945C>G (p.Leu2315=) c.6573C>G (p.Leu2191=) c.6729C>G (p.Leu2243=) c.6936C>G (p.Leu2312=) c.6237C>G (p.Leu2079=) c.6984C>G (p.Leu2328=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728057G= | CA2202928460 | CREBBP | c.6990C= (p.Leu2330=) c.6876C= (p.Leu2292=) c.6945C= (p.Leu2315=) c.6573C= (p.Leu2191=) c.6729C= (p.Leu2243=) c.6936C= (p.Leu2312=) c.6237C= (p.Leu2079=) c.6984C= (p.Leu2328=) | |
16 | g.3728057G>T | CA493393508 | CREBBP | c.6990C>A (p.Leu2330=) c.6876C>A (p.Leu2292=) c.6945C>A (p.Leu2315=) c.6573C>A (p.Leu2191=) c.6729C>A (p.Leu2243=) c.6936C>A (p.Leu2312=) c.6237C>A (p.Leu2079=) c.6984C>A (p.Leu2328=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728058A= | CA2202928461 | CREBBP | c.6989T= (p.Leu2330=) c.6875T= (p.Leu2292=) c.6944T= (p.Leu2315=) c.6572T= (p.Leu2191=) c.6728T= (p.Leu2243=) c.6935T= (p.Leu2312=) c.6236T= (p.Leu2079=) c.6983T= (p.Leu2328=) | |
16 | g.3728058A>C | CA394550921 | CREBBP | c.6989T>G (p.Leu2330Arg) c.6875T>G (p.Leu2292Arg) c.6944T>G (p.Leu2315Arg) c.6572T>G (p.Leu2191Arg) c.6728T>G (p.Leu2243Arg) c.6935T>G (p.Leu2312Arg) c.6236T>G (p.Leu2079Arg) c.6983T>G (p.Leu2328Arg) | dbSNP COSMIC |
16 | g.3728058A>G | CA394550922 | CREBBP | c.6989T>C (p.Leu2330Pro) c.6875T>C (p.Leu2292Pro) c.6944T>C (p.Leu2315Pro) c.6572T>C (p.Leu2191Pro) c.6728T>C (p.Leu2243Pro) c.6935T>C (p.Leu2312Pro) c.6236T>C (p.Leu2079Pro) c.6983T>C (p.Leu2328Pro) | dbSNP |
16 | g.3728058A>T | CA394550924 | CREBBP | c.6989T>A (p.Leu2330His) c.6875T>A (p.Leu2292His) c.6944T>A (p.Leu2315His) c.6572T>A (p.Leu2191His) c.6728T>A (p.Leu2243His) c.6935T>A (p.Leu2312His) c.6236T>A (p.Leu2079His) c.6983T>A (p.Leu2328His) | dbSNP |
16 | g.3728059G>A | CA16620193 | CREBBP | c.6988C>T (p.Leu2330Phe) c.6874C>T (p.Leu2292Phe) c.6943C>T (p.Leu2315Phe) c.6571C>T (p.Leu2191Phe) c.6727C>T (p.Leu2243Phe) c.6934C>T (p.Leu2312Phe) c.6235C>T (p.Leu2079Phe) c.6982C>T (p.Leu2328Phe) | ClinVar dbSNP |
16 | g.3728059G>C | CA394550927 | CREBBP | c.6988C>G (p.Leu2330Val) c.6874C>G (p.Leu2292Val) c.6943C>G (p.Leu2315Val) c.6571C>G (p.Leu2191Val) c.6727C>G (p.Leu2243Val) c.6934C>G (p.Leu2312Val) c.6235C>G (p.Leu2079Val) c.6982C>G (p.Leu2328Val) | ClinVar dbSNP |
16 | g.3728059G= | CA2202928462 | CREBBP | c.6988C= (p.Leu2330=) c.6874C= (p.Leu2292=) c.6943C= (p.Leu2315=) c.6571C= (p.Leu2191=) c.6727C= (p.Leu2243=) c.6934C= (p.Leu2312=) c.6235C= (p.Leu2079=) c.6982C= (p.Leu2328=) | |
16 | g.3728059G>T | CA394550928 | CREBBP | c.6988C>A (p.Leu2330Ile) c.6874C>A (p.Leu2292Ile) c.6943C>A (p.Leu2315Ile) c.6571C>A (p.Leu2191Ile) c.6727C>A (p.Leu2243Ile) c.6934C>A (p.Leu2312Ile) c.6235C>A (p.Leu2079Ile) c.6982C>A (p.Leu2328Ile) | |
16 | g.3728060A>C | CA394550930 | CREBBP | c.6987T>G (p.His2329Gln) c.6873T>G (p.His2291Gln) c.6942T>G (p.His2314Gln) c.6570T>G (p.His2190Gln) c.6726T>G (p.His2242Gln) c.6933T>G (p.His2311Gln) c.6234T>G (p.His2078Gln) c.6981T>G (p.His2327Gln) | |
16 | g.3728060A>G | CA493393510 | CREBBP | c.6987T>C (p.His2329=) c.6873T>C (p.His2291=) c.6942T>C (p.His2314=) c.6570T>C (p.His2190=) c.6726T>C (p.His2242=) c.6933T>C (p.His2311=) c.6234T>C (p.His2078=) c.6981T>C (p.His2327=) | dbSNP |
16 | g.3728060A>T | CA394550932 | CREBBP | c.6987T>A (p.His2329Gln) c.6873T>A (p.His2291Gln) c.6942T>A (p.His2314Gln) c.6570T>A (p.His2190Gln) c.6726T>A (p.His2242Gln) c.6933T>A (p.His2311Gln) c.6234T>A (p.His2078Gln) c.6981T>A (p.His2327Gln) | dbSNP |
16 | g.3728061T>A | CA394550936 | CREBBP | c.6986A>T (p.His2329Leu) c.6872A>T (p.His2291Leu) c.6941A>T (p.His2314Leu) c.6569A>T (p.His2190Leu) c.6725A>T (p.His2242Leu) c.6932A>T (p.His2311Leu) c.6233A>T (p.His2078Leu) c.6980A>T (p.His2327Leu) | dbSNP |
16 | g.3728061T>C | CA7868969 | CREBBP | c.6986A>G (p.His2329Arg) c.6872A>G (p.His2291Arg) c.6941A>G (p.His2314Arg) c.6569A>G (p.His2190Arg) c.6725A>G (p.His2242Arg) c.6932A>G (p.His2311Arg) c.6233A>G (p.His2078Arg) c.6980A>G (p.His2327Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728061T>G | CA394550934 | CREBBP | c.6986A>C (p.His2329Pro) c.6872A>C (p.His2291Pro) c.6941A>C (p.His2314Pro) c.6569A>C (p.His2190Pro) c.6725A>C (p.His2242Pro) c.6932A>C (p.His2311Pro) c.6233A>C (p.His2078Pro) c.6980A>C (p.His2327Pro) | dbSNP |
16 | g.3728061T= | CA2202928463 | CREBBP | c.6986A= (p.His2329=) c.6872A= (p.His2291=) c.6941A= (p.His2314=) c.6569A= (p.His2190=) c.6725A= (p.His2242=) c.6932A= (p.His2311=) c.6233A= (p.His2078=) c.6980A= (p.His2327=) | |
16 | g.3728062G>A | CA394550939 | CREBBP | c.6985C>T (p.His2329Tyr) c.6871C>T (p.His2291Tyr) c.6940C>T (p.His2314Tyr) c.6568C>T (p.His2190Tyr) c.6724C>T (p.His2242Tyr) c.6931C>T (p.His2311Tyr) c.6232C>T (p.His2078Tyr) c.6979C>T (p.His2327Tyr) | dbSNP gnomAD v4 |
16 | g.3728062G>C | CA394550940 | CREBBP | c.6985C>G (p.His2329Asp) c.6871C>G (p.His2291Asp) c.6940C>G (p.His2314Asp) c.6568C>G (p.His2190Asp) c.6724C>G (p.His2242Asp) c.6931C>G (p.His2311Asp) c.6232C>G (p.His2078Asp) c.6979C>G (p.His2327Asp) | dbSNP |
16 | g.3728062G>T | CA394550942 | CREBBP | c.6985C>A (p.His2329Asn) c.6871C>A (p.His2291Asn) c.6940C>A (p.His2314Asn) c.6568C>A (p.His2190Asn) c.6724C>A (p.His2242Asn) c.6931C>A (p.His2311Asn) c.6232C>A (p.His2078Asn) c.6979C>A (p.His2327Asn) | gnomAD v4 |
16 | g.3728063C>A | CA7868970 | CREBBP | c.6984G>T (p.Ser2328=) c.6870G>T (p.Ser2290=) c.6939G>T (p.Ser2313=) c.6567G>T (p.Ser2189=) c.6723G>T (p.Ser2241=) c.6930G>T (p.Ser2310=) c.6231G>T (p.Ser2077=) c.6978G>T (p.Ser2326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728063C= | CA2202928464 | CREBBP | c.6984G= (p.Ser2328=) c.6870G= (p.Ser2290=) c.6939G= (p.Ser2313=) c.6567G= (p.Ser2189=) c.6723G= (p.Ser2241=) c.6930G= (p.Ser2310=) c.6231G= (p.Ser2077=) c.6978G= (p.Ser2326=) | |
16 | g.3728063C>G | CA7868971 | CREBBP | c.6984G>C (p.Ser2328=) c.6870G>C (p.Ser2290=) c.6939G>C (p.Ser2313=) c.6567G>C (p.Ser2189=) c.6723G>C (p.Ser2241=) c.6930G>C (p.Ser2310=) c.6231G>C (p.Ser2077=) c.6978G>C (p.Ser2326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728063C>T | CA493393514 | CREBBP | c.6984G>A (p.Ser2328=) c.6870G>A (p.Ser2290=) c.6939G>A (p.Ser2313=) c.6567G>A (p.Ser2189=) c.6723G>A (p.Ser2241=) c.6930G>A (p.Ser2310=) c.6231G>A (p.Ser2077=) c.6978G>A (p.Ser2326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728064G>A | CA394550950 | CREBBP | c.6983C>T (p.Ser2328Leu) c.6869C>T (p.Ser2290Leu) c.6938C>T (p.Ser2313Leu) c.6566C>T (p.Ser2189Leu) c.6722C>T (p.Ser2241Leu) c.6929C>T (p.Ser2310Leu) c.6230C>T (p.Ser2077Leu) c.6977C>T (p.Ser2326Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.3728064G>C | CA394550948 | CREBBP | c.6983C>G (p.Ser2328Trp) c.6869C>G (p.Ser2290Trp) c.6938C>G (p.Ser2313Trp) c.6566C>G (p.Ser2189Trp) c.6722C>G (p.Ser2241Trp) c.6929C>G (p.Ser2310Trp) c.6230C>G (p.Ser2077Trp) c.6977C>G (p.Ser2326Trp) | dbSNP gnomAD v4 |
16 | g.3728064G= | CA2202928465 | CREBBP | c.6983C= (p.Ser2328=) c.6869C= (p.Ser2290=) c.6938C= (p.Ser2313=) c.6566C= (p.Ser2189=) c.6722C= (p.Ser2241=) c.6929C= (p.Ser2310=) c.6230C= (p.Ser2077=) c.6977C= (p.Ser2326=) | |
16 | g.3728064G>T | CA394550946 | CREBBP | c.6983C>A (p.Ser2328Ter) c.6869C>A (p.Ser2290Ter) c.6938C>A (p.Ser2313Ter) c.6566C>A (p.Ser2189Ter) c.6722C>A (p.Ser2241Ter) c.6929C>A (p.Ser2310Ter) c.6230C>A (p.Ser2077Ter) c.6977C>A (p.Ser2326Ter) | dbSNP |
16 | g.3728065A>C | CA394550952 | CREBBP | c.6982T>G (p.Ser2328Ala) c.6868T>G (p.Ser2290Ala) c.6937T>G (p.Ser2313Ala) c.6565T>G (p.Ser2189Ala) c.6721T>G (p.Ser2241Ala) c.6928T>G (p.Ser2310Ala) c.6229T>G (p.Ser2077Ala) c.6976T>G (p.Ser2326Ala) | |
16 | g.3728065A>G | CA394550954 | CREBBP | c.6982T>C (p.Ser2328Pro) c.6868T>C (p.Ser2290Pro) c.6937T>C (p.Ser2313Pro) c.6565T>C (p.Ser2189Pro) c.6721T>C (p.Ser2241Pro) c.6928T>C (p.Ser2310Pro) c.6229T>C (p.Ser2077Pro) c.6976T>C (p.Ser2326Pro) | dbSNP |
16 | g.3728065A>T | CA394550956 | CREBBP | c.6982T>A (p.Ser2328Thr) c.6868T>A (p.Ser2290Thr) c.6937T>A (p.Ser2313Thr) c.6565T>A (p.Ser2189Thr) c.6721T>A (p.Ser2241Thr) c.6928T>A (p.Ser2310Thr) c.6229T>A (p.Ser2077Thr) c.6976T>A (p.Ser2326Thr) | dbSNP |
16 | g.3728066G>A | CA493393516 | CREBBP | c.6981C>T (p.Ala2327=) c.6867C>T (p.Ala2289=) c.6936C>T (p.Ala2312=) c.6564C>T (p.Ala2188=) c.6720C>T (p.Ala2240=) c.6927C>T (p.Ala2309=) c.6228C>T (p.Ala2076=) c.6975C>T (p.Ala2325=) | dbSNP |
16 | g.3728066G>C | CA493393517 | CREBBP | c.6981C>G (p.Ala2327=) c.6867C>G (p.Ala2289=) c.6936C>G (p.Ala2312=) c.6564C>G (p.Ala2188=) c.6720C>G (p.Ala2240=) c.6927C>G (p.Ala2309=) c.6228C>G (p.Ala2076=) c.6975C>G (p.Ala2325=) | |
16 | g.3728066G>T | CA493393518 | CREBBP | c.6981C>A (p.Ala2327=) c.6867C>A (p.Ala2289=) c.6936C>A (p.Ala2312=) c.6564C>A (p.Ala2188=) c.6720C>A (p.Ala2240=) c.6927C>A (p.Ala2309=) c.6228C>A (p.Ala2076=) c.6975C>A (p.Ala2325=) | dbSNP |
16 | g.3728067G>A | CA394550959 | CREBBP | c.6980C>T (p.Ala2327Val) c.6866C>T (p.Ala2289Val) c.6935C>T (p.Ala2312Val) c.6563C>T (p.Ala2188Val) c.6719C>T (p.Ala2240Val) c.6926C>T (p.Ala2309Val) c.6227C>T (p.Ala2076Val) c.6974C>T (p.Ala2325Val) | COSMIC |
16 | g.3728067G>C | CA276971144 | CREBBP | c.6980C>G (p.Ala2327Gly) c.6866C>G (p.Ala2289Gly) c.6935C>G (p.Ala2312Gly) c.6563C>G (p.Ala2188Gly) c.6719C>G (p.Ala2240Gly) c.6926C>G (p.Ala2309Gly) c.6227C>G (p.Ala2076Gly) c.6974C>G (p.Ala2325Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728067G= | CA2202928466 | CREBBP | c.6980C= (p.Ala2327=) c.6866C= (p.Ala2289=) c.6935C= (p.Ala2312=) c.6563C= (p.Ala2188=) c.6719C= (p.Ala2240=) c.6926C= (p.Ala2309=) c.6227C= (p.Ala2076=) c.6974C= (p.Ala2325=) | |
16 | g.3728067G>T | CA394550961 | CREBBP | c.6980C>A (p.Ala2327Asp) c.6866C>A (p.Ala2289Asp) c.6935C>A (p.Ala2312Asp) c.6563C>A (p.Ala2188Asp) c.6719C>A (p.Ala2240Asp) c.6926C>A (p.Ala2309Asp) c.6227C>A (p.Ala2076Asp) c.6974C>A (p.Ala2325Asp) | |
16 | g.3728068C>A | CA394550963 | CREBBP | c.6979G>T (p.Ala2327Ser) c.6865G>T (p.Ala2289Ser) c.6934G>T (p.Ala2312Ser) c.6562G>T (p.Ala2188Ser) c.6718G>T (p.Ala2240Ser) c.6925G>T (p.Ala2309Ser) c.6226G>T (p.Ala2076Ser) c.6973G>T (p.Ala2325Ser) | |
16 | g.3728068C>G | CA394550966 | CREBBP | c.6979G>C (p.Ala2327Pro) c.6865G>C (p.Ala2289Pro) c.6934G>C (p.Ala2312Pro) c.6562G>C (p.Ala2188Pro) c.6718G>C (p.Ala2240Pro) c.6925G>C (p.Ala2309Pro) c.6226G>C (p.Ala2076Pro) c.6973G>C (p.Ala2325Pro) | |
16 | g.3728068C>T | CA394550964 | CREBBP | c.6979G>A (p.Ala2327Thr) c.6865G>A (p.Ala2289Thr) c.6934G>A (p.Ala2312Thr) c.6562G>A (p.Ala2188Thr) c.6718G>A (p.Ala2240Thr) c.6925G>A (p.Ala2309Thr) c.6226G>A (p.Ala2076Thr) c.6973G>A (p.Ala2325Thr) | dbSNP |
16 | g.3728069C>A | CA394550968 | CREBBP | c.6978G>T (p.Gln2326His) c.6864G>T (p.Gln2288His) c.6933G>T (p.Gln2311His) c.6561G>T (p.Gln2187His) c.6717G>T (p.Gln2239His) c.6924G>T (p.Gln2308His) c.6225G>T (p.Gln2075His) c.6972G>T (p.Gln2324His) | |
16 | g.3728069C>G | CA394550970 | CREBBP | c.6978G>C (p.Gln2326His) c.6864G>C (p.Gln2288His) c.6933G>C (p.Gln2311His) c.6561G>C (p.Gln2187His) c.6717G>C (p.Gln2239His) c.6924G>C (p.Gln2308His) c.6225G>C (p.Gln2075His) c.6972G>C (p.Gln2324His) | |
16 | g.3728069C>T | CA493393520 | CREBBP | c.6978G>A (p.Gln2326=) c.6864G>A (p.Gln2288=) c.6933G>A (p.Gln2311=) c.6561G>A (p.Gln2187=) c.6717G>A (p.Gln2239=) c.6924G>A (p.Gln2308=) c.6225G>A (p.Gln2075=) c.6972G>A (p.Gln2324=) | |
16 | g.3728070T>A | CA394550973 | CREBBP | c.6977A>T (p.Gln2326Leu) c.6863A>T (p.Gln2288Leu) c.6932A>T (p.Gln2311Leu) c.6560A>T (p.Gln2187Leu) c.6716A>T (p.Gln2239Leu) c.6923A>T (p.Gln2308Leu) c.6224A>T (p.Gln2075Leu) c.6971A>T (p.Gln2324Leu) | dbSNP gnomAD v4 |
16 | g.3728070T>C | CA394550974 | CREBBP | c.6977A>G (p.Gln2326Arg) c.6863A>G (p.Gln2288Arg) c.6932A>G (p.Gln2311Arg) c.6560A>G (p.Gln2187Arg) c.6716A>G (p.Gln2239Arg) c.6923A>G (p.Gln2308Arg) c.6224A>G (p.Gln2075Arg) c.6971A>G (p.Gln2324Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728070T>G | CA394550976 | CREBBP | c.6977A>C (p.Gln2326Pro) c.6863A>C (p.Gln2288Pro) c.6932A>C (p.Gln2311Pro) c.6560A>C (p.Gln2187Pro) c.6716A>C (p.Gln2239Pro) c.6923A>C (p.Gln2308Pro) c.6224A>C (p.Gln2075Pro) c.6971A>C (p.Gln2324Pro) | dbSNP gnomAD v4 |
16 | g.3728070T= | CA2202928467 | CREBBP | c.6977A= (p.Gln2326=) c.6863A= (p.Gln2288=) c.6932A= (p.Gln2311=) c.6560A= (p.Gln2187=) c.6716A= (p.Gln2239=) c.6923A= (p.Gln2308=) c.6224A= (p.Gln2075=) c.6971A= (p.Gln2324=) | |
16 | g.3728071G>A | CA394550979 | CREBBP | c.6976C>T (p.Gln2326Ter) c.6862C>T (p.Gln2288Ter) c.6931C>T (p.Gln2311Ter) c.6559C>T (p.Gln2187Ter) c.6715C>T (p.Gln2239Ter) c.6922C>T (p.Gln2308Ter) c.6223C>T (p.Gln2075Ter) c.6970C>T (p.Gln2324Ter) | dbSNP |
16 | g.3728071G>C | CA394550980 | CREBBP | c.6976C>G (p.Gln2326Glu) c.6862C>G (p.Gln2288Glu) c.6931C>G (p.Gln2311Glu) c.6559C>G (p.Gln2187Glu) c.6715C>G (p.Gln2239Glu) c.6922C>G (p.Gln2308Glu) c.6223C>G (p.Gln2075Glu) c.6970C>G (p.Gln2324Glu) | |
16 | g.3728071G>T | CA394550983 | CREBBP | c.6976C>A (p.Gln2326Lys) c.6862C>A (p.Gln2288Lys) c.6931C>A (p.Gln2311Lys) c.6559C>A (p.Gln2187Lys) c.6715C>A (p.Gln2239Lys) c.6922C>A (p.Gln2308Lys) c.6223C>A (p.Gln2075Lys) c.6970C>A (p.Gln2324Lys) | dbSNP |
16 | g.3728072T>A | CA493393522 | CREBBP | c.6975A>T (p.Pro2325=) c.6861A>T (p.Pro2287=) c.6930A>T (p.Pro2310=) c.6558A>T (p.Pro2186=) c.6714A>T (p.Pro2238=) c.6921A>T (p.Pro2307=) c.6222A>T (p.Pro2074=) c.6969A>T (p.Pro2323=) | dbSNP |
16 | g.3728072T>C | CA493393523 | CREBBP | c.6975A>G (p.Pro2325=) c.6861A>G (p.Pro2287=) c.6930A>G (p.Pro2310=) c.6558A>G (p.Pro2186=) c.6714A>G (p.Pro2238=) c.6921A>G (p.Pro2307=) c.6222A>G (p.Pro2074=) c.6969A>G (p.Pro2323=) | |
16 | g.3728072T>G | CA493393524 | CREBBP | c.6975A>C (p.Pro2325=) c.6861A>C (p.Pro2287=) c.6930A>C (p.Pro2310=) c.6558A>C (p.Pro2186=) c.6714A>C (p.Pro2238=) c.6921A>C (p.Pro2307=) c.6222A>C (p.Pro2074=) c.6969A>C (p.Pro2323=) | gnomAD v4 |
16 | g.3728073G>A | CA394550985 | CREBBP | c.6974C>T (p.Pro2325Leu) c.6860C>T (p.Pro2287Leu) c.6929C>T (p.Pro2310Leu) c.6557C>T (p.Pro2186Leu) c.6713C>T (p.Pro2238Leu) c.6920C>T (p.Pro2307Leu) c.6221C>T (p.Pro2074Leu) c.6968C>T (p.Pro2323Leu) | dbSNP gnomAD v2 |
16 | g.3728073G>C | CA394550987 | CREBBP | c.6974C>G (p.Pro2325Arg) c.6860C>G (p.Pro2287Arg) c.6929C>G (p.Pro2310Arg) c.6557C>G (p.Pro2186Arg) c.6713C>G (p.Pro2238Arg) c.6920C>G (p.Pro2307Arg) c.6221C>G (p.Pro2074Arg) c.6968C>G (p.Pro2323Arg) | |
16 | g.3728073G= | CA2202928468 | CREBBP | c.6974C= (p.Pro2325=) c.6860C= (p.Pro2287=) c.6929C= (p.Pro2310=) c.6557C= (p.Pro2186=) c.6713C= (p.Pro2238=) c.6920C= (p.Pro2307=) c.6221C= (p.Pro2074=) c.6968C= (p.Pro2323=) | |
16 | g.3728073G>T | CA394550989 | CREBBP | c.6974C>A (p.Pro2325Gln) c.6860C>A (p.Pro2287Gln) c.6929C>A (p.Pro2310Gln) c.6557C>A (p.Pro2186Gln) c.6713C>A (p.Pro2238Gln) c.6920C>A (p.Pro2307Gln) c.6221C>A (p.Pro2074Gln) c.6968C>A (p.Pro2323Gln) | |
16 | g.3728074G>A | CA394550995 | CREBBP | c.6973C>T (p.Pro2325Ser) c.6859C>T (p.Pro2287Ser) c.6928C>T (p.Pro2310Ser) c.6556C>T (p.Pro2186Ser) c.6712C>T (p.Pro2238Ser) c.6919C>T (p.Pro2307Ser) c.6220C>T (p.Pro2074Ser) c.6967C>T (p.Pro2323Ser) | dbSNP gnomAD v4 |
16 | g.3728074G>C | CA394550993 | CREBBP | c.6973C>G (p.Pro2325Ala) c.6859C>G (p.Pro2287Ala) c.6928C>G (p.Pro2310Ala) c.6556C>G (p.Pro2186Ala) c.6712C>G (p.Pro2238Ala) c.6919C>G (p.Pro2307Ala) c.6220C>G (p.Pro2074Ala) c.6967C>G (p.Pro2323Ala) | dbSNP |
16 | g.3728074G>T | CA394550991 | CREBBP | c.6973C>A (p.Pro2325Thr) c.6859C>A (p.Pro2287Thr) c.6928C>A (p.Pro2310Thr) c.6556C>A (p.Pro2186Thr) c.6712C>A (p.Pro2238Thr) c.6919C>A (p.Pro2307Thr) c.6220C>A (p.Pro2074Thr) c.6967C>A (p.Pro2323Thr) | dbSNP |
16 | g.3728075C>A | CA394550997 | CREBBP | c.6972G>T (p.Gln2324His) c.6858G>T (p.Gln2286His) c.6927G>T (p.Gln2309His) c.6555G>T (p.Gln2185His) c.6711G>T (p.Gln2237His) c.6918G>T (p.Gln2306His) c.6219G>T (p.Gln2073His) c.6966G>T (p.Gln2322His) | dbSNP COSMIC |
16 | g.3728075C= | CA2202928469 | CREBBP | c.6972G= (p.Gln2324=) c.6858G= (p.Gln2286=) c.6927G= (p.Gln2309=) c.6555G= (p.Gln2185=) c.6711G= (p.Gln2237=) c.6918G= (p.Gln2306=) c.6219G= (p.Gln2073=) c.6966G= (p.Gln2322=) | |
16 | g.3728075C>G | CA394550999 | CREBBP | c.6972G>C (p.Gln2324His) c.6858G>C (p.Gln2286His) c.6927G>C (p.Gln2309His) c.6555G>C (p.Gln2185His) c.6711G>C (p.Gln2237His) c.6918G>C (p.Gln2306His) c.6219G>C (p.Gln2073His) c.6966G>C (p.Gln2322His) | dbSNP |
16 | g.3728075C>T | CA276971146 | CREBBP | c.6972G>A (p.Gln2324=) c.6858G>A (p.Gln2286=) c.6927G>A (p.Gln2309=) c.6555G>A (p.Gln2185=) c.6711G>A (p.Gln2237=) c.6918G>A (p.Gln2306=) c.6219G>A (p.Gln2073=) c.6966G>A (p.Gln2322=) | ClinVar dbSNP gnomAD v4 |
16 | g.3728076T>A | CA394551001 | CREBBP | c.6971A>T (p.Gln2324Leu) c.6857A>T (p.Gln2286Leu) c.6926A>T (p.Gln2309Leu) c.6554A>T (p.Gln2185Leu) c.6710A>T (p.Gln2237Leu) c.6917A>T (p.Gln2306Leu) c.6218A>T (p.Gln2073Leu) c.6965A>T (p.Gln2322Leu) | dbSNP |
16 | g.3728076T>C | CA394551003 | CREBBP | c.6971A>G (p.Gln2324Arg) c.6857A>G (p.Gln2286Arg) c.6926A>G (p.Gln2309Arg) c.6554A>G (p.Gln2185Arg) c.6710A>G (p.Gln2237Arg) c.6917A>G (p.Gln2306Arg) c.6218A>G (p.Gln2073Arg) c.6965A>G (p.Gln2322Arg) | dbSNP |
16 | g.3728076T>G | CA394551005 | CREBBP | c.6971A>C (p.Gln2324Pro) c.6857A>C (p.Gln2286Pro) c.6926A>C (p.Gln2309Pro) c.6554A>C (p.Gln2185Pro) c.6710A>C (p.Gln2237Pro) c.6917A>C (p.Gln2306Pro) c.6218A>C (p.Gln2073Pro) c.6965A>C (p.Gln2322Pro) | dbSNP gnomAD v4 |
16 | g.3728077G>A | CA394551007 | CREBBP | c.6970C>T (p.Gln2324Ter) c.6856C>T (p.Gln2286Ter) c.6925C>T (p.Gln2309Ter) c.6553C>T (p.Gln2185Ter) c.6709C>T (p.Gln2237Ter) c.6916C>T (p.Gln2306Ter) c.6217C>T (p.Gln2073Ter) c.6964C>T (p.Gln2322Ter) | ClinVar dbSNP |
16 | g.3728077G>C | CA394551009 | CREBBP | c.6970C>G (p.Gln2324Glu) c.6856C>G (p.Gln2286Glu) c.6925C>G (p.Gln2309Glu) c.6553C>G (p.Gln2185Glu) c.6709C>G (p.Gln2237Glu) c.6916C>G (p.Gln2306Glu) c.6217C>G (p.Gln2073Glu) c.6964C>G (p.Gln2322Glu) | dbSNP |
16 | g.3728077G>T | CA394551011 | CREBBP | c.6970C>A (p.Gln2324Lys) c.6856C>A (p.Gln2286Lys) c.6925C>A (p.Gln2309Lys) c.6553C>A (p.Gln2185Lys) c.6709C>A (p.Gln2237Lys) c.6916C>A (p.Gln2306Lys) c.6217C>A (p.Gln2073Lys) c.6964C>A (p.Gln2322Lys) | |
16 | g.3728078T>A | CA493393529 | CREBBP | c.6969A>T (p.Gly2323=) c.6855A>T (p.Gly2285=) c.6924A>T (p.Gly2308=) c.6552A>T (p.Gly2184=) c.6708A>T (p.Gly2236=) c.6915A>T (p.Gly2305=) c.6216A>T (p.Gly2072=) c.6963A>T (p.Gly2321=) | dbSNP |
16 | g.3728078T>C | CA7868972 | CREBBP | c.6969A>G (p.Gly2323=) c.6855A>G (p.Gly2285=) c.6924A>G (p.Gly2308=) c.6552A>G (p.Gly2184=) c.6708A>G (p.Gly2236=) c.6915A>G (p.Gly2305=) c.6216A>G (p.Gly2072=) c.6963A>G (p.Gly2321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728078T>G | CA493393530 | CREBBP | c.6969A>C (p.Gly2323=) c.6855A>C (p.Gly2285=) c.6924A>C (p.Gly2308=) c.6552A>C (p.Gly2184=) c.6708A>C (p.Gly2236=) c.6915A>C (p.Gly2305=) c.6216A>C (p.Gly2072=) c.6963A>C (p.Gly2321=) | |
16 | g.3728078T= | CA2202928470 | CREBBP | c.6969A= (p.Gly2323=) c.6855A= (p.Gly2285=) c.6924A= (p.Gly2308=) c.6552A= (p.Gly2184=) c.6708A= (p.Gly2236=) c.6915A= (p.Gly2305=) c.6216A= (p.Gly2072=) c.6963A= (p.Gly2321=) | |
16 | g.3728079C>A | CA394551013 | CREBBP | c.6968G>T (p.Gly2323Val) c.6854G>T (p.Gly2285Val) c.6923G>T (p.Gly2308Val) c.6551G>T (p.Gly2184Val) c.6707G>T (p.Gly2236Val) c.6914G>T (p.Gly2305Val) c.6215G>T (p.Gly2072Val) c.6962G>T (p.Gly2321Val) | dbSNP |
16 | g.3728079C>G | CA394551015 | CREBBP | c.6968G>C (p.Gly2323Ala) c.6854G>C (p.Gly2285Ala) c.6923G>C (p.Gly2308Ala) c.6551G>C (p.Gly2184Ala) c.6707G>C (p.Gly2236Ala) c.6914G>C (p.Gly2305Ala) c.6215G>C (p.Gly2072Ala) c.6962G>C (p.Gly2321Ala) | dbSNP |
16 | g.3728079C>T | CA394551017 | CREBBP | c.6968G>A (p.Gly2323Glu) c.6854G>A (p.Gly2285Glu) c.6923G>A (p.Gly2308Glu) c.6551G>A (p.Gly2184Glu) c.6707G>A (p.Gly2236Glu) c.6914G>A (p.Gly2305Glu) c.6215G>A (p.Gly2072Glu) c.6962G>A (p.Gly2321Glu) | dbSNP |
16 | g.3728079_3728080delinsTT | CA645575155 | CREBBP | c.6967_6968delinsAA (p.Gly2323Lys) c.6853_6854delinsAA (p.Gly2285Lys) c.6922_6923delinsAA (p.Gly2308Lys) c.6550_6551delinsAA (p.Gly2184Lys) c.6706_6707delinsAA (p.Gly2236Lys) c.6913_6914delinsAA (p.Gly2305Lys) c.6214_6215delinsAA (p.Gly2072Lys) c.6961_6962delinsAA (p.Gly2321Lys) | COSMIC |
16 | g.3728080C>A | CA394551018 | CREBBP | c.6967G>T (p.Gly2323Ter) c.6853G>T (p.Gly2285Ter) c.6922G>T (p.Gly2308Ter) c.6550G>T (p.Gly2184Ter) c.6706G>T (p.Gly2236Ter) c.6913G>T (p.Gly2305Ter) c.6214G>T (p.Gly2072Ter) c.6961G>T (p.Gly2321Ter) | dbSNP |
16 | g.3728080C= | CA2202928471 | CREBBP | c.6967G= (p.Gly2323=) c.6853G= (p.Gly2285=) c.6922G= (p.Gly2308=) c.6550G= (p.Gly2184=) c.6706G= (p.Gly2236=) c.6913G= (p.Gly2305=) c.6214G= (p.Gly2072=) c.6961G= (p.Gly2321=) | |
16 | g.3728080C>G | CA394551020 | CREBBP | c.6967G>C (p.Gly2323Arg) c.6853G>C (p.Gly2285Arg) c.6922G>C (p.Gly2308Arg) c.6550G>C (p.Gly2184Arg) c.6706G>C (p.Gly2236Arg) c.6913G>C (p.Gly2305Arg) c.6214G>C (p.Gly2072Arg) c.6961G>C (p.Gly2321Arg) | dbSNP |
16 | g.3728080C>T | CA276971147 | CREBBP | c.6967G>A (p.Gly2323Arg) c.6853G>A (p.Gly2285Arg) c.6922G>A (p.Gly2308Arg) c.6550G>A (p.Gly2184Arg) c.6706G>A (p.Gly2236Arg) c.6913G>A (p.Gly2305Arg) c.6214G>A (p.Gly2072Arg) c.6961G>A (p.Gly2321Arg) | dbSNP |
16 | g.3728081T>A | CA493393535 | CREBBP | c.6966A>T (p.Ser2322=) c.6852A>T (p.Ser2284=) c.6921A>T (p.Ser2307=) c.6549A>T (p.Ser2183=) c.6705A>T (p.Ser2235=) c.6912A>T (p.Ser2304=) c.6213A>T (p.Ser2071=) c.6960A>T (p.Ser2320=) | dbSNP |
16 | g.3728081T>C | CA493393537 | CREBBP | c.6966A>G (p.Ser2322=) c.6852A>G (p.Ser2284=) c.6921A>G (p.Ser2307=) c.6549A>G (p.Ser2183=) c.6705A>G (p.Ser2235=) c.6912A>G (p.Ser2304=) c.6213A>G (p.Ser2071=) c.6960A>G (p.Ser2320=) | |
16 | g.3728081T>G | CA493393539 | CREBBP | c.6966A>C (p.Ser2322=) c.6852A>C (p.Ser2284=) c.6921A>C (p.Ser2307=) c.6549A>C (p.Ser2183=) c.6705A>C (p.Ser2235=) c.6912A>C (p.Ser2304=) c.6213A>C (p.Ser2071=) c.6960A>C (p.Ser2320=) | |
16 | g.3728082G>A | CA394551022 | CREBBP | c.6965C>T (p.Ser2322Leu) c.6851C>T (p.Ser2284Leu) c.6920C>T (p.Ser2307Leu) c.6548C>T (p.Ser2183Leu) c.6704C>T (p.Ser2235Leu) c.6911C>T (p.Ser2304Leu) c.6212C>T (p.Ser2071Leu) c.6959C>T (p.Ser2320Leu) | dbSNP |
16 | g.3728082G>C | CA394551025 | CREBBP | c.6965C>G (p.Ser2322Ter) c.6851C>G (p.Ser2284Ter) c.6920C>G (p.Ser2307Ter) c.6548C>G (p.Ser2183Ter) c.6704C>G (p.Ser2235Ter) c.6911C>G (p.Ser2304Ter) c.6212C>G (p.Ser2071Ter) c.6959C>G (p.Ser2320Ter) | dbSNP |
16 | g.3728082G>T | CA394551024 | CREBBP | c.6965C>A (p.Ser2322Ter) c.6851C>A (p.Ser2284Ter) c.6920C>A (p.Ser2307Ter) c.6548C>A (p.Ser2183Ter) c.6704C>A (p.Ser2235Ter) c.6911C>A (p.Ser2304Ter) c.6212C>A (p.Ser2071Ter) c.6959C>A (p.Ser2320Ter) | dbSNP |
16 | g.3728083A>C | CA394551027 | CREBBP | c.6964T>G (p.Ser2322Ala) c.6850T>G (p.Ser2284Ala) c.6919T>G (p.Ser2307Ala) c.6547T>G (p.Ser2183Ala) c.6703T>G (p.Ser2235Ala) c.6910T>G (p.Ser2304Ala) c.6211T>G (p.Ser2071Ala) c.6958T>G (p.Ser2320Ala) | |
16 | g.3728083A>G | CA394551029 | CREBBP | c.6964T>C (p.Ser2322Pro) c.6850T>C (p.Ser2284Pro) c.6919T>C (p.Ser2307Pro) c.6547T>C (p.Ser2183Pro) c.6703T>C (p.Ser2235Pro) c.6910T>C (p.Ser2304Pro) c.6211T>C (p.Ser2071Pro) c.6958T>C (p.Ser2320Pro) | dbSNP |
16 | g.3728083A>T | CA394551031 | CREBBP | c.6964T>A (p.Ser2322Thr) c.6850T>A (p.Ser2284Thr) c.6919T>A (p.Ser2307Thr) c.6547T>A (p.Ser2183Thr) c.6703T>A (p.Ser2235Thr) c.6910T>A (p.Ser2304Thr) c.6211T>A (p.Ser2071Thr) c.6958T>A (p.Ser2320Thr) | dbSNP |
16 | g.3728084G>A | CA493393544 | CREBBP | c.6963C>T (p.Leu2321=) c.6849C>T (p.Leu2283=) c.6918C>T (p.Leu2306=) c.6546C>T (p.Leu2182=) c.6702C>T (p.Leu2234=) c.6909C>T (p.Leu2303=) c.6210C>T (p.Leu2070=) c.6957C>T (p.Leu2319=) | dbSNP |
16 | g.3728084G>C | CA493393546 | CREBBP | c.6963C>G (p.Leu2321=) c.6849C>G (p.Leu2283=) c.6918C>G (p.Leu2306=) c.6546C>G (p.Leu2182=) c.6702C>G (p.Leu2234=) c.6909C>G (p.Leu2303=) c.6210C>G (p.Leu2070=) c.6957C>G (p.Leu2319=) | dbSNP gnomAD v4 |
16 | g.3728084G>T | CA493393547 | CREBBP | c.6963C>A (p.Leu2321=) c.6849C>A (p.Leu2283=) c.6918C>A (p.Leu2306=) c.6546C>A (p.Leu2182=) c.6702C>A (p.Leu2234=) c.6909C>A (p.Leu2303=) c.6210C>A (p.Leu2070=) c.6957C>A (p.Leu2319=) | dbSNP |
16 | g.3728085A>C | CA394551033 | CREBBP | c.6962T>G (p.Leu2321Arg) c.6848T>G (p.Leu2283Arg) c.6917T>G (p.Leu2306Arg) c.6545T>G (p.Leu2182Arg) c.6701T>G (p.Leu2234Arg) c.6908T>G (p.Leu2303Arg) c.6209T>G (p.Leu2070Arg) c.6956T>G (p.Leu2319Arg) | gnomAD v4 |
16 | g.3728085A>G | CA394551035 | CREBBP | c.6962T>C (p.Leu2321Pro) c.6848T>C (p.Leu2283Pro) c.6917T>C (p.Leu2306Pro) c.6545T>C (p.Leu2182Pro) c.6701T>C (p.Leu2234Pro) c.6908T>C (p.Leu2303Pro) c.6209T>C (p.Leu2070Pro) c.6956T>C (p.Leu2319Pro) | dbSNP gnomAD v4 |
16 | g.3728085A>T | CA394551036 | CREBBP | c.6962T>A (p.Leu2321His) c.6848T>A (p.Leu2283His) c.6917T>A (p.Leu2306His) c.6545T>A (p.Leu2182His) c.6701T>A (p.Leu2234His) c.6908T>A (p.Leu2303His) c.6209T>A (p.Leu2070His) c.6956T>A (p.Leu2319His) | dbSNP |
16 | g.3728086G>A | CA394551039 | CREBBP | c.6961C>T (p.Leu2321Phe) c.6847C>T (p.Leu2283Phe) c.6916C>T (p.Leu2306Phe) c.6544C>T (p.Leu2182Phe) c.6700C>T (p.Leu2234Phe) c.6907C>T (p.Leu2303Phe) c.6208C>T (p.Leu2070Phe) c.6955C>T (p.Leu2319Phe) | dbSNP |
16 | g.3728086G>C | CA394551041 | CREBBP | c.6961C>G (p.Leu2321Val) c.6847C>G (p.Leu2283Val) c.6916C>G (p.Leu2306Val) c.6544C>G (p.Leu2182Val) c.6700C>G (p.Leu2234Val) c.6907C>G (p.Leu2303Val) c.6208C>G (p.Leu2070Val) c.6955C>G (p.Leu2319Val) | dbSNP |
16 | g.3728086G>T | CA394551042 | CREBBP | c.6961C>A (p.Leu2321Ile) c.6847C>A (p.Leu2283Ile) c.6916C>A (p.Leu2306Ile) c.6544C>A (p.Leu2182Ile) c.6700C>A (p.Leu2234Ile) c.6907C>A (p.Leu2303Ile) c.6208C>A (p.Leu2070Ile) c.6955C>A (p.Leu2319Ile) | dbSNP gnomAD v4 |
16 | g.3728087C>A | CA7868973 | CREBBP | c.6960G>T (p.Met2320Ile) c.6846G>T (p.Met2282Ile) c.6915G>T (p.Met2305Ile) c.6543G>T (p.Met2181Ile) c.6699G>T (p.Met2233Ile) c.6906G>T (p.Met2302Ile) c.6207G>T (p.Met2069Ile) c.6954G>T (p.Met2318Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728087C= | CA2202928472 | CREBBP | c.6960G= (p.Met2320=) c.6846G= (p.Met2282=) c.6915G= (p.Met2305=) c.6543G= (p.Met2181=) c.6699G= (p.Met2233=) c.6906G= (p.Met2302=) c.6207G= (p.Met2069=) c.6954G= (p.Met2318=) | |
16 | g.3728087C>G | CA394551044 | CREBBP | c.6960G>C (p.Met2320Ile) c.6846G>C (p.Met2282Ile) c.6915G>C (p.Met2305Ile) c.6543G>C (p.Met2181Ile) c.6699G>C (p.Met2233Ile) c.6906G>C (p.Met2302Ile) c.6207G>C (p.Met2069Ile) c.6954G>C (p.Met2318Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728087C>T | CA394551046 | CREBBP | c.6960G>A (p.Met2320Ile) c.6846G>A (p.Met2282Ile) c.6915G>A (p.Met2305Ile) c.6543G>A (p.Met2181Ile) c.6699G>A (p.Met2233Ile) c.6906G>A (p.Met2302Ile) c.6207G>A (p.Met2069Ile) c.6954G>A (p.Met2318Ile) | dbSNP |
16 | g.3728088A>C | CA394551049 | CREBBP | c.6959T>G (p.Met2320Arg) c.6845T>G (p.Met2282Arg) c.6914T>G (p.Met2305Arg) c.6542T>G (p.Met2181Arg) c.6698T>G (p.Met2233Arg) c.6905T>G (p.Met2302Arg) c.6206T>G (p.Met2069Arg) c.6953T>G (p.Met2318Arg) | |
16 | g.3728088A>G | CA394551052 | CREBBP | c.6959T>C (p.Met2320Thr) c.6845T>C (p.Met2282Thr) c.6914T>C (p.Met2305Thr) c.6542T>C (p.Met2181Thr) c.6698T>C (p.Met2233Thr) c.6905T>C (p.Met2302Thr) c.6206T>C (p.Met2069Thr) c.6953T>C (p.Met2318Thr) | ClinVar dbSNP |
16 | g.3728088A>T | CA394551050 | CREBBP | c.6959T>A (p.Met2320Lys) c.6845T>A (p.Met2282Lys) c.6914T>A (p.Met2305Lys) c.6542T>A (p.Met2181Lys) c.6698T>A (p.Met2233Lys) c.6905T>A (p.Met2302Lys) c.6206T>A (p.Met2069Lys) c.6953T>A (p.Met2318Lys) | dbSNP |
16 | g.3728089T>A | CA394551054 | CREBBP | c.6958A>T (p.Met2320Leu) c.6844A>T (p.Met2282Leu) c.6913A>T (p.Met2305Leu) c.6541A>T (p.Met2181Leu) c.6697A>T (p.Met2233Leu) c.6904A>T (p.Met2302Leu) c.6205A>T (p.Met2069Leu) c.6952A>T (p.Met2318Leu) | dbSNP |
16 | g.3728089T>C | CA394551056 | CREBBP | c.6958A>G (p.Met2320Val) c.6844A>G (p.Met2282Val) c.6913A>G (p.Met2305Val) c.6541A>G (p.Met2181Val) c.6697A>G (p.Met2233Val) c.6904A>G (p.Met2302Val) c.6205A>G (p.Met2069Val) c.6952A>G (p.Met2318Val) | dbSNP |
16 | g.3728089T>G | CA394551058 | CREBBP | c.6958A>C (p.Met2320Leu) c.6844A>C (p.Met2282Leu) c.6913A>C (p.Met2305Leu) c.6541A>C (p.Met2181Leu) c.6697A>C (p.Met2233Leu) c.6904A>C (p.Met2302Leu) c.6205A>C (p.Met2069Leu) c.6952A>C (p.Met2318Leu) | dbSNP |
16 | g.3728090G>A | CA493393554 | CREBBP | c.6957C>T (p.His2319=) c.6843C>T (p.His2281=) c.6912C>T (p.His2304=) c.6540C>T (p.His2180=) c.6696C>T (p.His2232=) c.6903C>T (p.His2301=) c.6204C>T (p.His2068=) c.6951C>T (p.His2317=) | dbSNP |
16 | g.3728090G>C | CA394551061 | CREBBP | c.6957C>G (p.His2319Gln) c.6843C>G (p.His2281Gln) c.6912C>G (p.His2304Gln) c.6540C>G (p.His2180Gln) c.6696C>G (p.His2232Gln) c.6903C>G (p.His2301Gln) c.6204C>G (p.His2068Gln) c.6951C>G (p.His2317Gln) | dbSNP |
16 | g.3728090G>T | CA394551063 | CREBBP | c.6957C>A (p.His2319Gln) c.6843C>A (p.His2281Gln) c.6912C>A (p.His2304Gln) c.6540C>A (p.His2180Gln) c.6696C>A (p.His2232Gln) c.6903C>A (p.His2301Gln) c.6204C>A (p.His2068Gln) c.6951C>A (p.His2317Gln) | |
16 | g.3728091T>A | CA158195 | CREBBP | c.6956A>T (p.His2319Leu) c.6842A>T (p.His2281Leu) c.6911A>T (p.His2304Leu) c.6539A>T (p.His2180Leu) c.6695A>T (p.His2232Leu) c.6902A>T (p.His2301Leu) c.6203A>T (p.His2068Leu) c.6950A>T (p.His2317Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728091T>C | CA394551066 | CREBBP | c.6956A>G (p.His2319Arg) c.6842A>G (p.His2281Arg) c.6911A>G (p.His2304Arg) c.6539A>G (p.His2180Arg) c.6695A>G (p.His2232Arg) c.6902A>G (p.His2301Arg) c.6203A>G (p.His2068Arg) c.6950A>G (p.His2317Arg) | dbSNP |
16 | g.3728091T>G | CA394551068 | CREBBP | c.6956A>C (p.His2319Pro) c.6842A>C (p.His2281Pro) c.6911A>C (p.His2304Pro) c.6539A>C (p.His2180Pro) c.6695A>C (p.His2232Pro) c.6902A>C (p.His2301Pro) c.6203A>C (p.His2068Pro) c.6950A>C (p.His2317Pro) | dbSNP |
16 | g.3728091T= | CA2202928473 | CREBBP | c.6956A= (p.His2319=) c.6842A= (p.His2281=) c.6911A= (p.His2304=) c.6539A= (p.His2180=) c.6695A= (p.His2232=) c.6902A= (p.His2301=) c.6203A= (p.His2068=) c.6950A= (p.His2317=) | |
16 | g.3728092G>A | CA394551071 | CREBBP | c.6955C>T (p.His2319Tyr) c.6841C>T (p.His2281Tyr) c.6910C>T (p.His2304Tyr) c.6538C>T (p.His2180Tyr) c.6694C>T (p.His2232Tyr) c.6901C>T (p.His2301Tyr) c.6202C>T (p.His2068Tyr) c.6949C>T (p.His2317Tyr) | dbSNP |
16 | g.3728092G>C | CA394551073 | CREBBP | c.6955C>G (p.His2319Asp) c.6841C>G (p.His2281Asp) c.6910C>G (p.His2304Asp) c.6538C>G (p.His2180Asp) c.6694C>G (p.His2232Asp) c.6901C>G (p.His2301Asp) c.6202C>G (p.His2068Asp) c.6949C>G (p.His2317Asp) | dbSNP gnomAD v4 |
16 | g.3728092G>T | CA394551075 | CREBBP | c.6955C>A (p.His2319Asn) c.6841C>A (p.His2281Asn) c.6910C>A (p.His2304Asn) c.6538C>A (p.His2180Asn) c.6694C>A (p.His2232Asn) c.6901C>A (p.His2301Asn) c.6202C>A (p.His2068Asn) c.6949C>A (p.His2317Asn) | dbSNP |
16 | g.3728093T>A | CA394551077 | CREBBP | c.6954A>T (p.Gln2318His) c.6840A>T (p.Gln2280His) c.6909A>T (p.Gln2303His) c.6537A>T (p.Gln2179His) c.6693A>T (p.Gln2231His) c.6900A>T (p.Gln2300His) c.6201A>T (p.Gln2067His) c.6948A>T (p.Gln2316His) | dbSNP |
16 | g.3728093T>C | CA493393560 | CREBBP | c.6954A>G (p.Gln2318=) c.6840A>G (p.Gln2280=) c.6909A>G (p.Gln2303=) c.6537A>G (p.Gln2179=) c.6693A>G (p.Gln2231=) c.6900A>G (p.Gln2300=) c.6201A>G (p.Gln2067=) c.6948A>G (p.Gln2316=) | dbSNP gnomAD v4 |
16 | g.3728093T>G | CA394551079 | CREBBP | c.6954A>C (p.Gln2318His) c.6840A>C (p.Gln2280His) c.6909A>C (p.Gln2303His) c.6537A>C (p.Gln2179His) c.6693A>C (p.Gln2231His) c.6900A>C (p.Gln2300His) c.6201A>C (p.Gln2067His) c.6948A>C (p.Gln2316His) | dbSNP |
16 | g.3728093T= | CA2202928474 | CREBBP | c.6954A= (p.Gln2318=) c.6840A= (p.Gln2280=) c.6909A= (p.Gln2303=) c.6537A= (p.Gln2179=) c.6693A= (p.Gln2231=) c.6900A= (p.Gln2300=) c.6201A= (p.Gln2067=) c.6948A= (p.Gln2316=) | |
16 | g.3728094T>A | CA394551083 | CREBBP | c.6953A>T (p.Gln2318Leu) c.6839A>T (p.Gln2280Leu) c.6908A>T (p.Gln2303Leu) c.6536A>T (p.Gln2179Leu) c.6692A>T (p.Gln2231Leu) c.6899A>T (p.Gln2300Leu) c.6200A>T (p.Gln2067Leu) c.6947A>T (p.Gln2316Leu) | dbSNP |
16 | g.3728094T>C | CA394551080 | CREBBP | c.6953A>G (p.Gln2318Arg) c.6839A>G (p.Gln2280Arg) c.6908A>G (p.Gln2303Arg) c.6536A>G (p.Gln2179Arg) c.6692A>G (p.Gln2231Arg) c.6899A>G (p.Gln2300Arg) c.6200A>G (p.Gln2067Arg) c.6947A>G (p.Gln2316Arg) | dbSNP |
16 | g.3728094T>G | CA7868974 | CREBBP | c.6953A>C (p.Gln2318Pro) c.6839A>C (p.Gln2280Pro) c.6908A>C (p.Gln2303Pro) c.6536A>C (p.Gln2179Pro) c.6692A>C (p.Gln2231Pro) c.6899A>C (p.Gln2300Pro) c.6200A>C (p.Gln2067Pro) c.6947A>C (p.Gln2316Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728094T= | CA2202928475 | CREBBP | c.6953A= (p.Gln2318=) c.6839A= (p.Gln2280=) c.6908A= (p.Gln2303=) c.6536A= (p.Gln2179=) c.6692A= (p.Gln2231=) c.6899A= (p.Gln2300=) c.6200A= (p.Gln2067=) c.6947A= (p.Gln2316=) | |
16 | g.3728095G>A | CA394551086 | CREBBP | c.6952C>T (p.Gln2318Ter) c.6838C>T (p.Gln2280Ter) c.6907C>T (p.Gln2303Ter) c.6535C>T (p.Gln2179Ter) c.6691C>T (p.Gln2231Ter) c.6898C>T (p.Gln2300Ter) c.6199C>T (p.Gln2067Ter) c.6946C>T (p.Gln2316Ter) | dbSNP |
16 | g.3728095G>C | CA394551087 | CREBBP | c.6952C>G (p.Gln2318Glu) c.6838C>G (p.Gln2280Glu) c.6907C>G (p.Gln2303Glu) c.6535C>G (p.Gln2179Glu) c.6691C>G (p.Gln2231Glu) c.6898C>G (p.Gln2300Glu) c.6199C>G (p.Gln2067Glu) c.6946C>G (p.Gln2316Glu) | dbSNP COSMIC |
16 | g.3728095G>T | CA394551089 | CREBBP | c.6952C>A (p.Gln2318Lys) c.6838C>A (p.Gln2280Lys) c.6907C>A (p.Gln2303Lys) c.6535C>A (p.Gln2179Lys) c.6691C>A (p.Gln2231Lys) c.6898C>A (p.Gln2300Lys) c.6199C>A (p.Gln2067Lys) c.6946C>A (p.Gln2316Lys) | dbSNP |
16 | g.3728096C>A | CA394551092 | CREBBP | c.6951G>T (p.Gln2317His) c.6837G>T (p.Gln2279His) c.6906G>T (p.Gln2302His) c.6534G>T (p.Gln2178His) c.6690G>T (p.Gln2230His) c.6897G>T (p.Gln2299His) c.6198G>T (p.Gln2066His) c.6945G>T (p.Gln2315His) | dbSNP |
16 | g.3728096C>G | CA394551094 | CREBBP | c.6951G>C (p.Gln2317His) c.6837G>C (p.Gln2279His) c.6906G>C (p.Gln2302His) c.6534G>C (p.Gln2178His) c.6690G>C (p.Gln2230His) c.6897G>C (p.Gln2299His) c.6198G>C (p.Gln2066His) c.6945G>C (p.Gln2315His) | dbSNP |
16 | g.3728096C>T | CA493393565 | CREBBP | c.6951G>A (p.Gln2317=) c.6837G>A (p.Gln2279=) c.6906G>A (p.Gln2302=) c.6534G>A (p.Gln2178=) c.6690G>A (p.Gln2230=) c.6897G>A (p.Gln2299=) c.6198G>A (p.Gln2066=) c.6945G>A (p.Gln2315=) | dbSNP |
16 | g.3728097T>A | CA394551096 | CREBBP | c.6950A>T (p.Gln2317Leu) c.6836A>T (p.Gln2279Leu) c.6905A>T (p.Gln2302Leu) c.6533A>T (p.Gln2178Leu) c.6689A>T (p.Gln2230Leu) c.6896A>T (p.Gln2299Leu) c.6197A>T (p.Gln2066Leu) c.6944A>T (p.Gln2315Leu) | |
16 | g.3728097T>C | CA394551098 | CREBBP | c.6950A>G (p.Gln2317Arg) c.6836A>G (p.Gln2279Arg) c.6905A>G (p.Gln2302Arg) c.6533A>G (p.Gln2178Arg) c.6689A>G (p.Gln2230Arg) c.6896A>G (p.Gln2299Arg) c.6197A>G (p.Gln2066Arg) c.6944A>G (p.Gln2315Arg) | |
16 | g.3728097T>G | CA394551100 | CREBBP | c.6950A>C (p.Gln2317Pro) c.6836A>C (p.Gln2279Pro) c.6905A>C (p.Gln2302Pro) c.6533A>C (p.Gln2178Pro) c.6689A>C (p.Gln2230Pro) c.6896A>C (p.Gln2299Pro) c.6197A>C (p.Gln2066Pro) c.6944A>C (p.Gln2315Pro) | |
16 | g.3728098G>A | CA394551102 | CREBBP | c.6949C>T (p.Gln2317Ter) c.6835C>T (p.Gln2279Ter) c.6904C>T (p.Gln2302Ter) c.6532C>T (p.Gln2178Ter) c.6688C>T (p.Gln2230Ter) c.6895C>T (p.Gln2299Ter) c.6196C>T (p.Gln2066Ter) c.6943C>T (p.Gln2315Ter) | dbSNP |
16 | g.3728098G>C | CA394551104 | CREBBP | c.6949C>G (p.Gln2317Glu) c.6835C>G (p.Gln2279Glu) c.6904C>G (p.Gln2302Glu) c.6532C>G (p.Gln2178Glu) c.6688C>G (p.Gln2230Glu) c.6895C>G (p.Gln2299Glu) c.6196C>G (p.Gln2066Glu) c.6943C>G (p.Gln2315Glu) | ClinVar gnomAD v4 |
16 | g.3728098G>T | CA394551106 | CREBBP | c.6949C>A (p.Gln2317Lys) c.6835C>A (p.Gln2279Lys) c.6904C>A (p.Gln2302Lys) c.6532C>A (p.Gln2178Lys) c.6688C>A (p.Gln2230Lys) c.6895C>A (p.Gln2299Lys) c.6196C>A (p.Gln2066Lys) c.6943C>A (p.Gln2315Lys) | COSMIC |
16 | g.3728099G>A | CA493393567 | CREBBP | c.6948C>T (p.Pro2316=) c.6834C>T (p.Pro2278=) c.6903C>T (p.Pro2301=) c.6531C>T (p.Pro2177=) c.6687C>T (p.Pro2229=) c.6894C>T (p.Pro2298=) c.6195C>T (p.Pro2065=) c.6942C>T (p.Pro2314=) | dbSNP gnomAD v4 |
16 | g.3728099G>C | CA493393568 | CREBBP | c.6948C>G (p.Pro2316=) c.6834C>G (p.Pro2278=) c.6903C>G (p.Pro2301=) c.6531C>G (p.Pro2177=) c.6687C>G (p.Pro2229=) c.6894C>G (p.Pro2298=) c.6195C>G (p.Pro2065=) c.6942C>G (p.Pro2314=) | gnomAD v4 |
16 | g.3728099G>T | CA493393569 | CREBBP | c.6948C>A (p.Pro2316=) c.6834C>A (p.Pro2278=) c.6903C>A (p.Pro2301=) c.6531C>A (p.Pro2177=) c.6687C>A (p.Pro2229=) c.6894C>A (p.Pro2298=) c.6195C>A (p.Pro2065=) c.6942C>A (p.Pro2314=) | dbSNP |
16 | g.3728100G>A | CA394551109 | CREBBP | c.6947C>T (p.Pro2316Leu) c.6833C>T (p.Pro2278Leu) c.6902C>T (p.Pro2301Leu) c.6530C>T (p.Pro2177Leu) c.6686C>T (p.Pro2229Leu) c.6893C>T (p.Pro2298Leu) c.6194C>T (p.Pro2065Leu) c.6941C>T (p.Pro2314Leu) | dbSNP |
16 | g.3728100G>C | CA394551112 | CREBBP | c.6947C>G (p.Pro2316Arg) c.6833C>G (p.Pro2278Arg) c.6902C>G (p.Pro2301Arg) c.6530C>G (p.Pro2177Arg) c.6686C>G (p.Pro2229Arg) c.6893C>G (p.Pro2298Arg) c.6194C>G (p.Pro2065Arg) c.6941C>G (p.Pro2314Arg) | dbSNP |
16 | g.3728100G= | CA2202928476 | CREBBP | c.6947C= (p.Pro2316=) c.6833C= (p.Pro2278=) c.6902C= (p.Pro2301=) c.6530C= (p.Pro2177=) c.6686C= (p.Pro2229=) c.6893C= (p.Pro2298=) c.6194C= (p.Pro2065=) c.6941C= (p.Pro2314=) | |
16 | g.3728100G>T | CA394551110 | CREBBP | c.6947C>A (p.Pro2316His) c.6833C>A (p.Pro2278His) c.6902C>A (p.Pro2301His) c.6530C>A (p.Pro2177His) c.6686C>A (p.Pro2229His) c.6893C>A (p.Pro2298His) c.6194C>A (p.Pro2065His) c.6941C>A (p.Pro2314His) | dbSNP |
16 | g.3728101G>A | CA394551114 | CREBBP | c.6946C>T (p.Pro2316Ser) c.6832C>T (p.Pro2278Ser) c.6901C>T (p.Pro2301Ser) c.6529C>T (p.Pro2177Ser) c.6685C>T (p.Pro2229Ser) c.6892C>T (p.Pro2298Ser) c.6193C>T (p.Pro2065Ser) c.6940C>T (p.Pro2314Ser) | dbSNP |
16 | g.3728101G>C | CA394551118 | CREBBP | c.6946C>G (p.Pro2316Ala) c.6832C>G (p.Pro2278Ala) c.6901C>G (p.Pro2301Ala) c.6529C>G (p.Pro2177Ala) c.6685C>G (p.Pro2229Ala) c.6892C>G (p.Pro2298Ala) c.6193C>G (p.Pro2065Ala) c.6940C>G (p.Pro2314Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728101G= | CA2202928477 | CREBBP | c.6946C= (p.Pro2316=) c.6832C= (p.Pro2278=) c.6901C= (p.Pro2301=) c.6529C= (p.Pro2177=) c.6685C= (p.Pro2229=) c.6892C= (p.Pro2298=) c.6193C= (p.Pro2065=) c.6940C= (p.Pro2314=) | |
16 | g.3728101G>T | CA394551116 | CREBBP | c.6946C>A (p.Pro2316Thr) c.6832C>A (p.Pro2278Thr) c.6901C>A (p.Pro2301Thr) c.6529C>A (p.Pro2177Thr) c.6685C>A (p.Pro2229Thr) c.6892C>A (p.Pro2298Thr) c.6193C>A (p.Pro2065Thr) c.6940C>A (p.Pro2314Thr) | gnomAD v4 |
16 | g.3728102G>A | CA493393572 | CREBBP | c.6945C>T (p.Ser2315=) c.6831C>T (p.Ser2277=) c.6900C>T (p.Ser2300=) c.6528C>T (p.Ser2176=) c.6684C>T (p.Ser2228=) c.6891C>T (p.Ser2297=) c.6192C>T (p.Ser2064=) c.6939C>T (p.Ser2313=) | ClinVar dbSNP gnomAD v4 |
16 | g.3728102G>C | CA394551119 | CREBBP | c.6945C>G (p.Ser2315Arg) c.6831C>G (p.Ser2277Arg) c.6900C>G (p.Ser2300Arg) c.6528C>G (p.Ser2176Arg) c.6684C>G (p.Ser2228Arg) c.6891C>G (p.Ser2297Arg) c.6192C>G (p.Ser2064Arg) c.6939C>G (p.Ser2313Arg) | dbSNP |
16 | g.3728102G= | CA2202928478 | CREBBP | c.6945C= (p.Ser2315=) c.6831C= (p.Ser2277=) c.6900C= (p.Ser2300=) c.6528C= (p.Ser2176=) c.6684C= (p.Ser2228=) c.6891C= (p.Ser2297=) c.6192C= (p.Ser2064=) c.6939C= (p.Ser2313=) | |
16 | g.3728102G>T | CA394551121 | CREBBP | c.6945C>A (p.Ser2315Arg) c.6831C>A (p.Ser2277Arg) c.6900C>A (p.Ser2300Arg) c.6528C>A (p.Ser2176Arg) c.6684C>A (p.Ser2228Arg) c.6891C>A (p.Ser2297Arg) c.6192C>A (p.Ser2064Arg) c.6939C>A (p.Ser2313Arg) | |
16 | g.3728103C>A | CA394551123 | CREBBP | c.6944G>T (p.Ser2315Ile) c.6830G>T (p.Ser2277Ile) c.6899G>T (p.Ser2300Ile) c.6527G>T (p.Ser2176Ile) c.6683G>T (p.Ser2228Ile) c.6890G>T (p.Ser2297Ile) c.6191G>T (p.Ser2064Ile) c.6938G>T (p.Ser2313Ile) | dbSNP |
16 | g.3728103C>G | CA394551126 | CREBBP | c.6944G>C (p.Ser2315Thr) c.6830G>C (p.Ser2277Thr) c.6899G>C (p.Ser2300Thr) c.6527G>C (p.Ser2176Thr) c.6683G>C (p.Ser2228Thr) c.6890G>C (p.Ser2297Thr) c.6191G>C (p.Ser2064Thr) c.6938G>C (p.Ser2313Thr) | dbSNP |
16 | g.3728103C>T | CA394551124 | CREBBP | c.6944G>A (p.Ser2315Asn) c.6830G>A (p.Ser2277Asn) c.6899G>A (p.Ser2300Asn) c.6527G>A (p.Ser2176Asn) c.6683G>A (p.Ser2228Asn) c.6890G>A (p.Ser2297Asn) c.6191G>A (p.Ser2064Asn) c.6938G>A (p.Ser2313Asn) | dbSNP gnomAD v4 |
16 | g.3728104T>A | CA394551129 | CREBBP | c.6943A>T (p.Ser2315Cys) c.6829A>T (p.Ser2277Cys) c.6898A>T (p.Ser2300Cys) c.6526A>T (p.Ser2176Cys) c.6682A>T (p.Ser2228Cys) c.6889A>T (p.Ser2297Cys) c.6190A>T (p.Ser2064Cys) c.6937A>T (p.Ser2313Cys) | dbSNP COSMIC |
16 | g.3728104T>C | CA394551130 | CREBBP | c.6943A>G (p.Ser2315Gly) c.6829A>G (p.Ser2277Gly) c.6898A>G (p.Ser2300Gly) c.6526A>G (p.Ser2176Gly) c.6682A>G (p.Ser2228Gly) c.6889A>G (p.Ser2297Gly) c.6190A>G (p.Ser2064Gly) c.6937A>G (p.Ser2313Gly) | dbSNP |
16 | g.3728104T>G | CA394551132 | CREBBP | c.6943A>C (p.Ser2315Arg) c.6829A>C (p.Ser2277Arg) c.6898A>C (p.Ser2300Arg) c.6526A>C (p.Ser2176Arg) c.6682A>C (p.Ser2228Arg) c.6889A>C (p.Ser2297Arg) c.6190A>C (p.Ser2064Arg) c.6937A>C (p.Ser2313Arg) | dbSNP |
16 | g.3728104T= | CA2202928479 | CREBBP | c.6943A= (p.Ser2315=) c.6829A= (p.Ser2277=) c.6898A= (p.Ser2300=) c.6526A= (p.Ser2176=) c.6682A= (p.Ser2228=) c.6889A= (p.Ser2297=) c.6190A= (p.Ser2064=) c.6937A= (p.Ser2313=) | |
16 | g.3728105C>A | CA394551135 | CREBBP | c.6942G>T (p.Met2314Ile) c.6828G>T (p.Met2276Ile) c.6897G>T (p.Met2299Ile) c.6525G>T (p.Met2175Ile) c.6681G>T (p.Met2227Ile) c.6888G>T (p.Met2296Ile) c.6189G>T (p.Met2063Ile) c.6936G>T (p.Met2312Ile) | dbSNP |
16 | g.3728105C>G | CA394551136 | CREBBP | c.6942G>C (p.Met2314Ile) c.6828G>C (p.Met2276Ile) c.6897G>C (p.Met2299Ile) c.6525G>C (p.Met2175Ile) c.6681G>C (p.Met2227Ile) c.6888G>C (p.Met2296Ile) c.6189G>C (p.Met2063Ile) c.6936G>C (p.Met2312Ile) | dbSNP |
16 | g.3728105C>T | CA394551137 | CREBBP | c.6942G>A (p.Met2314Ile) c.6828G>A (p.Met2276Ile) c.6897G>A (p.Met2299Ile) c.6525G>A (p.Met2175Ile) c.6681G>A (p.Met2227Ile) c.6888G>A (p.Met2296Ile) c.6189G>A (p.Met2063Ile) c.6936G>A (p.Met2312Ile) | dbSNP gnomAD v4 |
16 | g.3728106A= | CA2202928480 | CREBBP | c.6941T= (p.Met2314=) c.6827T= (p.Met2276=) c.6896T= (p.Met2299=) c.6524T= (p.Met2175=) c.6680T= (p.Met2227=) c.6887T= (p.Met2296=) c.6188T= (p.Met2063=) c.6935T= (p.Met2312=) | |
16 | g.3728106A>C | CA394551139 | CREBBP | c.6941T>G (p.Met2314Arg) c.6827T>G (p.Met2276Arg) c.6896T>G (p.Met2299Arg) c.6524T>G (p.Met2175Arg) c.6680T>G (p.Met2227Arg) c.6887T>G (p.Met2296Arg) c.6188T>G (p.Met2063Arg) c.6935T>G (p.Met2312Arg) | dbSNP gnomAD v4 |
16 | g.3728106A>G | CA7868975 | CREBBP | c.6941T>C (p.Met2314Thr) c.6827T>C (p.Met2276Thr) c.6896T>C (p.Met2299Thr) c.6524T>C (p.Met2175Thr) c.6680T>C (p.Met2227Thr) c.6887T>C (p.Met2296Thr) c.6188T>C (p.Met2063Thr) c.6935T>C (p.Met2312Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728106A>T | CA394551142 | CREBBP | c.6941T>A (p.Met2314Lys) c.6827T>A (p.Met2276Lys) c.6896T>A (p.Met2299Lys) c.6524T>A (p.Met2175Lys) c.6680T>A (p.Met2227Lys) c.6887T>A (p.Met2296Lys) c.6188T>A (p.Met2063Lys) c.6935T>A (p.Met2312Lys) | dbSNP |
16 | g.3728107T>A | CA394551147 | CREBBP | c.6940A>T (p.Met2314Leu) c.6826A>T (p.Met2276Leu) c.6895A>T (p.Met2299Leu) c.6523A>T (p.Met2175Leu) c.6679A>T (p.Met2227Leu) c.6886A>T (p.Met2296Leu) c.6187A>T (p.Met2063Leu) c.6934A>T (p.Met2312Leu) | dbSNP |
16 | g.3728107T>C | CA276971151 | CREBBP | c.6940A>G (p.Met2314Val) c.6826A>G (p.Met2276Val) c.6895A>G (p.Met2299Val) c.6523A>G (p.Met2175Val) c.6679A>G (p.Met2227Val) c.6886A>G (p.Met2296Val) c.6187A>G (p.Met2063Val) c.6934A>G (p.Met2312Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728107T>G | CA394551144 | CREBBP | c.6940A>C (p.Met2314Leu) c.6826A>C (p.Met2276Leu) c.6895A>C (p.Met2299Leu) c.6523A>C (p.Met2175Leu) c.6679A>C (p.Met2227Leu) c.6886A>C (p.Met2296Leu) c.6187A>C (p.Met2063Leu) c.6934A>C (p.Met2312Leu) | |
16 | g.3728107T= | CA2202928481 | CREBBP | c.6940A= (p.Met2314=) c.6826A= (p.Met2276=) c.6895A= (p.Met2299=) c.6523A= (p.Met2175=) c.6679A= (p.Met2227=) c.6886A= (p.Met2296=) c.6187A= (p.Met2063=) c.6934A= (p.Met2312=) | |
16 | g.3728107_3728108delinsTG | CA2202928482 | CREBBP | c.6939_6940delinsCA (p.Pro2313=) c.6825_6826delinsCA (p.Pro2275=) c.6894_6895delinsCA (p.Pro2298=) c.6522_6523delinsCA (p.Pro2174=) c.6678_6679delinsCA (p.Pro2226=) c.6885_6886delinsCA (p.Pro2295=) c.6186_6187delinsCA (p.Pro2062=) c.6933_6934delinsCA (p.Pro2311=) | |
16 | g.3728108G>A | CA493393581 | CREBBP | c.6939C>T (p.Pro2313=) c.6825C>T (p.Pro2275=) c.6894C>T (p.Pro2298=) c.6522C>T (p.Pro2174=) c.6678C>T (p.Pro2226=) c.6885C>T (p.Pro2295=) c.6186C>T (p.Pro2062=) c.6933C>T (p.Pro2311=) | |
16 | g.3728108G>C | CA493393582 | CREBBP | c.6939C>G (p.Pro2313=) c.6825C>G (p.Pro2275=) c.6894C>G (p.Pro2298=) c.6522C>G (p.Pro2174=) c.6678C>G (p.Pro2226=) c.6885C>G (p.Pro2295=) c.6186C>G (p.Pro2062=) c.6933C>G (p.Pro2311=) | |
16 | g.3728108G>T | CA493393583 | CREBBP | c.6939C>A (p.Pro2313=) c.6825C>A (p.Pro2275=) c.6894C>A (p.Pro2298=) c.6522C>A (p.Pro2174=) c.6678C>A (p.Pro2226=) c.6885C>A (p.Pro2295=) c.6186C>A (p.Pro2062=) c.6933C>A (p.Pro2311=) | |
16 | g.3728111del | CA2202928483 | CREBBP | c.6939del (p.Met2314Ter) c.6825del (p.Met2276Ter) c.6894del (p.Met2299Ter) c.6522del (p.Met2175Ter) c.6678del (p.Met2227Ter) c.6885del (p.Met2296Ter) c.6186del (p.Met2063Ter) c.6933del (p.Met2312Ter) | dbSNP |
16 | g.3728109G>A | CA394551149 | CREBBP | c.6938C>T (p.Pro2313Leu) c.6824C>T (p.Pro2275Leu) c.6893C>T (p.Pro2298Leu) c.6521C>T (p.Pro2174Leu) c.6677C>T (p.Pro2226Leu) c.6884C>T (p.Pro2295Leu) c.6185C>T (p.Pro2062Leu) c.6932C>T (p.Pro2311Leu) | COSMIC |
16 | g.3728109G>C | CA394551152 | CREBBP | c.6938C>G (p.Pro2313Arg) c.6824C>G (p.Pro2275Arg) c.6893C>G (p.Pro2298Arg) c.6521C>G (p.Pro2174Arg) c.6677C>G (p.Pro2226Arg) c.6884C>G (p.Pro2295Arg) c.6185C>G (p.Pro2062Arg) c.6932C>G (p.Pro2311Arg) | |
16 | g.3728109G>T | CA394551153 | CREBBP | c.6938C>A (p.Pro2313His) c.6824C>A (p.Pro2275His) c.6893C>A (p.Pro2298His) c.6521C>A (p.Pro2174His) c.6677C>A (p.Pro2226His) c.6884C>A (p.Pro2295His) c.6185C>A (p.Pro2062His) c.6932C>A (p.Pro2311His) | |
16 | g.3728110G>A | CA394551156 | CREBBP | c.6937C>T (p.Pro2313Ser) c.6823C>T (p.Pro2275Ser) c.6892C>T (p.Pro2298Ser) c.6520C>T (p.Pro2174Ser) c.6676C>T (p.Pro2226Ser) c.6883C>T (p.Pro2295Ser) c.6184C>T (p.Pro2062Ser) c.6931C>T (p.Pro2311Ser) | dbSNP gnomAD v4 |
16 | g.3728110G>C | CA394551158 | CREBBP | c.6937C>G (p.Pro2313Ala) c.6823C>G (p.Pro2275Ala) c.6892C>G (p.Pro2298Ala) c.6520C>G (p.Pro2174Ala) c.6676C>G (p.Pro2226Ala) c.6883C>G (p.Pro2295Ala) c.6184C>G (p.Pro2062Ala) c.6931C>G (p.Pro2311Ala) | dbSNP |
16 | g.3728110G= | CA2202928484 | CREBBP | c.6937C= (p.Pro2313=) c.6823C= (p.Pro2275=) c.6892C= (p.Pro2298=) c.6520C= (p.Pro2174=) c.6676C= (p.Pro2226=) c.6883C= (p.Pro2295=) c.6184C= (p.Pro2062=) c.6931C= (p.Pro2311=) | |
16 | g.3728110G>T | CA394551159 | CREBBP | c.6937C>A (p.Pro2313Thr) c.6823C>A (p.Pro2275Thr) c.6892C>A (p.Pro2298Thr) c.6520C>A (p.Pro2174Thr) c.6676C>A (p.Pro2226Thr) c.6883C>A (p.Pro2295Thr) c.6184C>A (p.Pro2062Thr) c.6931C>A (p.Pro2311Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728111G>A | CA493393586 | CREBBP | c.6936C>T (p.Asn2312=) c.6822C>T (p.Asn2274=) c.6891C>T (p.Asn2297=) c.6519C>T (p.Asn2173=) c.6675C>T (p.Asn2225=) c.6882C>T (p.Asn2294=) c.6183C>T (p.Asn2061=) c.6930C>T (p.Asn2310=) | dbSNP |
16 | g.3728111G>C | CA394551161 | CREBBP | c.6936C>G (p.Asn2312Lys) c.6822C>G (p.Asn2274Lys) c.6891C>G (p.Asn2297Lys) c.6519C>G (p.Asn2173Lys) c.6675C>G (p.Asn2225Lys) c.6882C>G (p.Asn2294Lys) c.6183C>G (p.Asn2061Lys) c.6930C>G (p.Asn2310Lys) | dbSNP |
16 | g.3728111G>T | CA394551163 | CREBBP | c.6936C>A (p.Asn2312Lys) c.6822C>A (p.Asn2274Lys) c.6891C>A (p.Asn2297Lys) c.6519C>A (p.Asn2173Lys) c.6675C>A (p.Asn2225Lys) c.6882C>A (p.Asn2294Lys) c.6183C>A (p.Asn2061Lys) c.6930C>A (p.Asn2310Lys) | |
16 | g.3728112T>A | CA394551165 | CREBBP | c.6935A>T (p.Asn2312Ile) c.6821A>T (p.Asn2274Ile) c.6890A>T (p.Asn2297Ile) c.6518A>T (p.Asn2173Ile) c.6674A>T (p.Asn2225Ile) c.6881A>T (p.Asn2294Ile) c.6182A>T (p.Asn2061Ile) c.6929A>T (p.Asn2310Ile) | dbSNP |
16 | g.3728112T>C | CA394551167 | CREBBP | c.6935A>G (p.Asn2312Ser) c.6821A>G (p.Asn2274Ser) c.6890A>G (p.Asn2297Ser) c.6518A>G (p.Asn2173Ser) c.6674A>G (p.Asn2225Ser) c.6881A>G (p.Asn2294Ser) c.6182A>G (p.Asn2061Ser) c.6929A>G (p.Asn2310Ser) | dbSNP |
16 | g.3728112T>G | CA394551169 | CREBBP | c.6935A>C (p.Asn2312Thr) c.6821A>C (p.Asn2274Thr) c.6890A>C (p.Asn2297Thr) c.6518A>C (p.Asn2173Thr) c.6674A>C (p.Asn2225Thr) c.6881A>C (p.Asn2294Thr) c.6182A>C (p.Asn2061Thr) c.6929A>C (p.Asn2310Thr) | dbSNP |
16 | g.3728113T>A | CA394551173 | CREBBP | c.6934A>T (p.Asn2312Tyr) c.6820A>T (p.Asn2274Tyr) c.6889A>T (p.Asn2297Tyr) c.6517A>T (p.Asn2173Tyr) c.6673A>T (p.Asn2225Tyr) c.6880A>T (p.Asn2294Tyr) c.6181A>T (p.Asn2061Tyr) c.6928A>T (p.Asn2310Tyr) | dbSNP |
16 | g.3728113T>C | CA394551175 | CREBBP | c.6934A>G (p.Asn2312Asp) c.6820A>G (p.Asn2274Asp) c.6889A>G (p.Asn2297Asp) c.6517A>G (p.Asn2173Asp) c.6673A>G (p.Asn2225Asp) c.6880A>G (p.Asn2294Asp) c.6181A>G (p.Asn2061Asp) c.6928A>G (p.Asn2310Asp) | dbSNP |
16 | g.3728113T>G | CA394551171 | CREBBP | c.6934A>C (p.Asn2312His) c.6820A>C (p.Asn2274His) c.6889A>C (p.Asn2297His) c.6517A>C (p.Asn2173His) c.6673A>C (p.Asn2225His) c.6880A>C (p.Asn2294His) c.6181A>C (p.Asn2061His) c.6928A>C (p.Asn2310His) | dbSNP |
16 | g.3728114C>A | CA493393593 | CREBBP | c.6933G>T (p.Pro2311=) c.6819G>T (p.Pro2273=) c.6888G>T (p.Pro2296=) c.6516G>T (p.Pro2172=) c.6672G>T (p.Pro2224=) c.6879G>T (p.Pro2293=) c.6180G>T (p.Pro2060=) c.6927G>T (p.Pro2309=) | dbSNP |
16 | g.3728114C= | CA2202928485 | CREBBP | c.6933G= (p.Pro2311=) c.6819G= (p.Pro2273=) c.6888G= (p.Pro2296=) c.6516G= (p.Pro2172=) c.6672G= (p.Pro2224=) c.6879G= (p.Pro2293=) c.6180G= (p.Pro2060=) c.6927G= (p.Pro2309=) | |
16 | g.3728114C>G | CA493393594 | CREBBP | c.6933G>C (p.Pro2311=) c.6819G>C (p.Pro2273=) c.6888G>C (p.Pro2296=) c.6516G>C (p.Pro2172=) c.6672G>C (p.Pro2224=) c.6879G>C (p.Pro2293=) c.6180G>C (p.Pro2060=) c.6927G>C (p.Pro2309=) | dbSNP |
16 | g.3728114C>T | CA7868976 | CREBBP | c.6933G>A (p.Pro2311=) c.6819G>A (p.Pro2273=) c.6888G>A (p.Pro2296=) c.6516G>A (p.Pro2172=) c.6672G>A (p.Pro2224=) c.6879G>A (p.Pro2293=) c.6180G>A (p.Pro2060=) c.6927G>A (p.Pro2309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728115G>A | CA7868977 | CREBBP | c.6932C>T (p.Pro2311Leu) c.6818C>T (p.Pro2273Leu) c.6887C>T (p.Pro2296Leu) c.6515C>T (p.Pro2172Leu) c.6671C>T (p.Pro2224Leu) c.6878C>T (p.Pro2293Leu) c.6179C>T (p.Pro2060Leu) c.6926C>T (p.Pro2309Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728115G>C | CA394551179 | CREBBP | c.6932C>G (p.Pro2311Arg) c.6818C>G (p.Pro2273Arg) c.6887C>G (p.Pro2296Arg) c.6515C>G (p.Pro2172Arg) c.6671C>G (p.Pro2224Arg) c.6878C>G (p.Pro2293Arg) c.6179C>G (p.Pro2060Arg) c.6926C>G (p.Pro2309Arg) | dbSNP |
16 | g.3728115G= | CA2202928486 | CREBBP | c.6932C= (p.Pro2311=) c.6818C= (p.Pro2273=) c.6887C= (p.Pro2296=) c.6515C= (p.Pro2172=) c.6671C= (p.Pro2224=) c.6878C= (p.Pro2293=) c.6179C= (p.Pro2060=) c.6926C= (p.Pro2309=) | |
16 | g.3728115G>T | CA394551181 | CREBBP | c.6932C>A (p.Pro2311Gln) c.6818C>A (p.Pro2273Gln) c.6887C>A (p.Pro2296Gln) c.6515C>A (p.Pro2172Gln) c.6671C>A (p.Pro2224Gln) c.6878C>A (p.Pro2293Gln) c.6179C>A (p.Pro2060Gln) c.6926C>A (p.Pro2309Gln) | dbSNP |
16 | g.3728116G>A | CA394551182 | CREBBP | c.6931C>T (p.Pro2311Ser) c.6817C>T (p.Pro2273Ser) c.6886C>T (p.Pro2296Ser) c.6514C>T (p.Pro2172Ser) c.6670C>T (p.Pro2224Ser) c.6877C>T (p.Pro2293Ser) c.6178C>T (p.Pro2060Ser) c.6925C>T (p.Pro2309Ser) | |
16 | g.3728116G>C | CA394551184 | CREBBP | c.6931C>G (p.Pro2311Ala) c.6817C>G (p.Pro2273Ala) c.6886C>G (p.Pro2296Ala) c.6514C>G (p.Pro2172Ala) c.6670C>G (p.Pro2224Ala) c.6877C>G (p.Pro2293Ala) c.6178C>G (p.Pro2060Ala) c.6925C>G (p.Pro2309Ala) | dbSNP |
16 | g.3728116G>T | CA394551185 | CREBBP | c.6931C>A (p.Pro2311Thr) c.6817C>A (p.Pro2273Thr) c.6886C>A (p.Pro2296Thr) c.6514C>A (p.Pro2172Thr) c.6670C>A (p.Pro2224Thr) c.6877C>A (p.Pro2293Thr) c.6178C>A (p.Pro2060Thr) c.6925C>A (p.Pro2309Thr) |