| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3770847_3770848del | CA271376 | CREBBP | c.2606_2607del (p.Leu869ProfsTer?) c.2492_2493del (p.Leu831ProfsTer?) c.1211_1212del (p.Leu404ProfsTer?) c.2561_2562del (p.Leu854ProfsTer?) c.2464-1491_2464-1490del (n.2464-1491_2464-1490del) c.2552_2553del (p.Leu851ProfsTer?) c.1853_1854del (p.Leu618ProfsTer?) c.2600_2601del (p.Leu867ProfsTer?) | ClinVar dbSNP |
| 16 | g.3770847G>A | CA394551507 | CREBBP | c.2603C>T (p.Ser868Phe) c.2489C>T (p.Ser830Phe) c.1208C>T (p.Ser403Phe) c.2558C>T (p.Ser853Phe) c.2464-1494C>T (n.2464-1494C>T) c.2549C>T (p.Ser850Phe) c.1850C>T (p.Ser617Phe) c.2597C>T (p.Ser866Phe) | |
| 16 | g.3770847G>C | CA394551509 | CREBBP | c.2603C>G (p.Ser868Cys) c.2489C>G (p.Ser830Cys) c.1208C>G (p.Ser403Cys) c.2558C>G (p.Ser853Cys) c.2464-1494C>G (n.2464-1494C>G) c.2549C>G (p.Ser850Cys) c.1850C>G (p.Ser617Cys) c.2597C>G (p.Ser866Cys) | dbSNP gnomAD v4 |
| 16 | g.3770847G= | CA2202950913 | CREBBP | c.2603C= (p.Ser868=) c.2489C= (p.Ser830=) c.1208C= (p.Ser403=) c.2558C= (p.Ser853=) c.2464-1494C= (n.2464-1494C=) c.2549C= (p.Ser850=) c.1850C= (p.Ser617=) c.2597C= (p.Ser866=) | |
| 16 | g.3770847G>T | CA394551510 | CREBBP | c.2603C>A (p.Ser868Tyr) c.2489C>A (p.Ser830Tyr) c.1208C>A (p.Ser403Tyr) c.2558C>A (p.Ser853Tyr) c.2464-1494C>A (n.2464-1494C>A) c.2549C>A (p.Ser850Tyr) c.1850C>A (p.Ser617Tyr) c.2597C>A (p.Ser866Tyr) | |
| 16 | g.3770848A>C | CA394551512 | CREBBP | c.2602T>G (p.Ser868Ala) c.2488T>G (p.Ser830Ala) c.1207T>G (p.Ser403Ala) c.2557T>G (p.Ser853Ala) c.2464-1495T>G (n.2464-1495T>G) c.2548T>G (p.Ser850Ala) c.1849T>G (p.Ser617Ala) c.2596T>G (p.Ser866Ala) | |
| 16 | g.3770848A>G | CA394551514 | CREBBP | c.2602T>C (p.Ser868Pro) c.2488T>C (p.Ser830Pro) c.1207T>C (p.Ser403Pro) c.2557T>C (p.Ser853Pro) c.2464-1495T>C (n.2464-1495T>C) c.2548T>C (p.Ser850Pro) c.1849T>C (p.Ser617Pro) c.2596T>C (p.Ser866Pro) | dbSNP |
| 16 | g.3770848A>T | CA394551516 | CREBBP | c.2602T>A (p.Ser868Thr) c.2488T>A (p.Ser830Thr) c.1207T>A (p.Ser403Thr) c.2557T>A (p.Ser853Thr) c.2464-1495T>A (n.2464-1495T>A) c.2548T>A (p.Ser850Thr) c.1849T>A (p.Ser617Thr) c.2596T>A (p.Ser866Thr) | dbSNP |
| 16 | g.3770849T>A | CA7870066 | CREBBP | c.2601A>T (p.Pro867=) c.2487A>T (p.Pro829=) c.1206A>T (p.Pro402=) c.2556A>T (p.Pro852=) c.2464-1496A>T (n.2464-1496A>T) c.2547A>T (p.Pro849=) c.1848A>T (p.Pro616=) c.2595A>T (p.Pro865=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770849T>C | CA7870067 | CREBBP | c.2601A>G (p.Pro867=) c.2487A>G (p.Pro829=) c.1206A>G (p.Pro402=) c.2556A>G (p.Pro852=) c.2464-1496A>G (n.2464-1496A>G) c.2547A>G (p.Pro849=) c.1848A>G (p.Pro616=) c.2595A>G (p.Pro865=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770849T>G | CA493395103 | CREBBP | c.2601A>C (p.Pro867=) c.2487A>C (p.Pro829=) c.1206A>C (p.Pro402=) c.2556A>C (p.Pro852=) c.2464-1496A>C (n.2464-1496A>C) c.2547A>C (p.Pro849=) c.1848A>C (p.Pro616=) c.2595A>C (p.Pro865=) | |
| 16 | g.3770849T= | CA2202950914 | CREBBP | c.2601A= (p.Pro867=) c.2487A= (p.Pro829=) c.1206A= (p.Pro402=) c.2556A= (p.Pro852=) c.2464-1496A= (n.2464-1496A=) c.2547A= (p.Pro849=) c.1848A= (p.Pro616=) c.2595A= (p.Pro865=) | |
| 16 | g.3770850G>A | CA394551520 | CREBBP | c.2600C>T (p.Pro867Leu) c.2486C>T (p.Pro829Leu) c.1205C>T (p.Pro402Leu) c.2555C>T (p.Pro852Leu) c.2464-1497C>T (n.2464-1497C>T) c.2546C>T (p.Pro849Leu) c.1847C>T (p.Pro616Leu) c.2594C>T (p.Pro865Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770850G>C | CA394551522 | CREBBP | c.2600C>G (p.Pro867Arg) c.2486C>G (p.Pro829Arg) c.1205C>G (p.Pro402Arg) c.2555C>G (p.Pro852Arg) c.2464-1497C>G (n.2464-1497C>G) c.2546C>G (p.Pro849Arg) c.1847C>G (p.Pro616Arg) c.2594C>G (p.Pro865Arg) | dbSNP |
| 16 | g.3770850G= | CA2202950916 | CREBBP | c.2600C= (p.Pro867=) c.2486C= (p.Pro829=) c.1205C= (p.Pro402=) c.2555C= (p.Pro852=) c.2464-1497C= (n.2464-1497C=) c.2546C= (p.Pro849=) c.1847C= (p.Pro616=) c.2594C= (p.Pro865=) | |
| 16 | g.3770850G>T | CA394551524 | CREBBP | c.2600C>A (p.Pro867Gln) c.2486C>A (p.Pro829Gln) c.1205C>A (p.Pro402Gln) c.2555C>A (p.Pro852Gln) c.2464-1497C>A (n.2464-1497C>A) c.2546C>A (p.Pro849Gln) c.1847C>A (p.Pro616Gln) c.2594C>A (p.Pro865Gln) | |
| 16 | g.3770851G>A | CA394551526 | CREBBP | c.2599C>T (p.Pro867Ser) c.2485C>T (p.Pro829Ser) c.1204C>T (p.Pro402Ser) c.2554C>T (p.Pro852Ser) c.2464-1498C>T (n.2464-1498C>T) c.2545C>T (p.Pro849Ser) c.1846C>T (p.Pro616Ser) c.2593C>T (p.Pro865Ser) | dbSNP gnomAD v4 |
| 16 | g.3770851G>C | CA394551530 | CREBBP | c.2599C>G (p.Pro867Ala) c.2485C>G (p.Pro829Ala) c.1204C>G (p.Pro402Ala) c.2554C>G (p.Pro852Ala) c.2464-1498C>G (n.2464-1498C>G) c.2545C>G (p.Pro849Ala) c.1846C>G (p.Pro616Ala) c.2593C>G (p.Pro865Ala) | dbSNP |
| 16 | g.3770851G>T | CA394551528 | CREBBP | c.2599C>A (p.Pro867Thr) c.2485C>A (p.Pro829Thr) c.1204C>A (p.Pro402Thr) c.2554C>A (p.Pro852Thr) c.2464-1498C>A (n.2464-1498C>A) c.2545C>A (p.Pro849Thr) c.1846C>A (p.Pro616Thr) c.2593C>A (p.Pro865Thr) | dbSNP gnomAD v4 |
| 16 | g.3770852C>A | CA7870068 | CREBBP | c.2598G>T (p.Met866Ile) c.2484G>T (p.Met828Ile) c.1203G>T (p.Met401Ile) c.2553G>T (p.Met851Ile) c.2464-1499G>T (n.2464-1499G>T) c.2544G>T (p.Met848Ile) c.1845G>T (p.Met615Ile) c.2592G>T (p.Met864Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3770852C= | CA2202950920 | CREBBP | c.2598G= (p.Met866=) c.2484G= (p.Met828=) c.1203G= (p.Met401=) c.2553G= (p.Met851=) c.2464-1499G= (n.2464-1499G=) c.2544G= (p.Met848=) c.1845G= (p.Met615=) c.2592G= (p.Met864=) | |
| 16 | g.3770852C>G | CA394551532 | CREBBP | c.2598G>C (p.Met866Ile) c.2484G>C (p.Met828Ile) c.1203G>C (p.Met401Ile) c.2553G>C (p.Met851Ile) c.2464-1499G>C (n.2464-1499G>C) c.2544G>C (p.Met848Ile) c.1845G>C (p.Met615Ile) c.2592G>C (p.Met864Ile) | dbSNP |
| 16 | g.3770852C>T | CA394551534 | CREBBP | c.2598G>A (p.Met866Ile) c.2484G>A (p.Met828Ile) c.1203G>A (p.Met401Ile) c.2553G>A (p.Met851Ile) c.2464-1499G>A (n.2464-1499G>A) c.2544G>A (p.Met848Ile) c.1845G>A (p.Met615Ile) c.2592G>A (p.Met864Ile) | dbSNP |
| 16 | g.3770853A>C | CA394551535 | CREBBP | c.2597T>G (p.Met866Arg) c.2483T>G (p.Met828Arg) c.1202T>G (p.Met401Arg) c.2552T>G (p.Met851Arg) c.2464-1500T>G (n.2464-1500T>G) c.2543T>G (p.Met848Arg) c.1844T>G (p.Met615Arg) c.2591T>G (p.Met864Arg) | dbSNP |
| 16 | g.3770853A>G | CA394551536 | CREBBP | c.2597T>C (p.Met866Thr) c.2483T>C (p.Met828Thr) c.1202T>C (p.Met401Thr) c.2552T>C (p.Met851Thr) c.2464-1500T>C (n.2464-1500T>C) c.2543T>C (p.Met848Thr) c.1844T>C (p.Met615Thr) c.2591T>C (p.Met864Thr) | dbSNP COSMIC |
| 16 | g.3770853A>T | CA394551538 | CREBBP | c.2597T>A (p.Met866Lys) c.2483T>A (p.Met828Lys) c.1202T>A (p.Met401Lys) c.2552T>A (p.Met851Lys) c.2464-1500T>A (n.2464-1500T>A) c.2543T>A (p.Met848Lys) c.1844T>A (p.Met615Lys) c.2591T>A (p.Met864Lys) | dbSNP |
| 16 | g.3770854T>A | CA394551540 | CREBBP | c.2596A>T (p.Met866Leu) c.2482A>T (p.Met828Leu) c.1201A>T (p.Met401Leu) c.2551A>T (p.Met851Leu) c.2464-1501A>T (n.2464-1501A>T) c.2542A>T (p.Met848Leu) c.1843A>T (p.Met615Leu) c.2590A>T (p.Met864Leu) | dbSNP |
| 16 | g.3770854T>C | CA7870069 | CREBBP | c.2596A>G (p.Met866Val) c.2482A>G (p.Met828Val) c.1201A>G (p.Met401Val) c.2551A>G (p.Met851Val) c.2464-1501A>G (n.2464-1501A>G) c.2542A>G (p.Met848Val) c.1843A>G (p.Met615Val) c.2590A>G (p.Met864Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3770854T>G | CA394551543 | CREBBP | c.2596A>C (p.Met866Leu) c.2482A>C (p.Met828Leu) c.1201A>C (p.Met401Leu) c.2551A>C (p.Met851Leu) c.2464-1501A>C (n.2464-1501A>C) c.2542A>C (p.Met848Leu) c.1843A>C (p.Met615Leu) c.2590A>C (p.Met864Leu) | dbSNP |
| 16 | g.3770854T= | CA2202950921 | CREBBP | c.2596A= (p.Met866=) c.2482A= (p.Met828=) c.1201A= (p.Met401=) c.2551A= (p.Met851=) c.2464-1501A= (n.2464-1501A=) c.2542A= (p.Met848=) c.1843A= (p.Met615=) c.2590A= (p.Met864=) | |
| 16 | g.3770855G>A | CA493395105 | CREBBP | c.2595C>T (p.Gly865=) c.2481C>T (p.Gly827=) c.1200C>T (p.Gly400=) c.2550C>T (p.Gly850=) c.2464-1502C>T (n.2464-1502C>T) c.2541C>T (p.Gly847=) c.1842C>T (p.Gly614=) c.2589C>T (p.Gly863=) | |
| 16 | g.3770855G>C | CA493395107 | CREBBP | c.2595C>G (p.Gly865=) c.2481C>G (p.Gly827=) c.1200C>G (p.Gly400=) c.2550C>G (p.Gly850=) c.2464-1502C>G (n.2464-1502C>G) c.2541C>G (p.Gly847=) c.1842C>G (p.Gly614=) c.2589C>G (p.Gly863=) | |
| 16 | g.3770855G>T | CA493395106 | CREBBP | c.2595C>A (p.Gly865=) c.2481C>A (p.Gly827=) c.1200C>A (p.Gly400=) c.2550C>A (p.Gly850=) c.2464-1502C>A (n.2464-1502C>A) c.2541C>A (p.Gly847=) c.1842C>A (p.Gly614=) c.2589C>A (p.Gly863=) | gnomAD v4 |
| 16 | g.3770856C>A | CA394551547 | CREBBP | c.2594G>T (p.Gly865Val) c.2480G>T (p.Gly827Val) c.1199G>T (p.Gly400Val) c.2549G>T (p.Gly850Val) c.2464-1503G>T (n.2464-1503G>T) c.2540G>T (p.Gly847Val) c.1841G>T (p.Gly614Val) c.2588G>T (p.Gly863Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3770856C= | CA2202950922 | CREBBP | c.2594G= (p.Gly865=) c.2480G= (p.Gly827=) c.1199G= (p.Gly400=) c.2549G= (p.Gly850=) c.2464-1503G= (n.2464-1503G=) c.2540G= (p.Gly847=) c.1841G= (p.Gly614=) c.2588G= (p.Gly863=) | |
| 16 | g.3770856C>G | CA394551548 | CREBBP | c.2594G>C (p.Gly865Ala) c.2480G>C (p.Gly827Ala) c.1199G>C (p.Gly400Ala) c.2549G>C (p.Gly850Ala) c.2464-1503G>C (n.2464-1503G>C) c.2540G>C (p.Gly847Ala) c.1841G>C (p.Gly614Ala) c.2588G>C (p.Gly863Ala) | dbSNP |
| 16 | g.3770856C>T | CA394551545 | CREBBP | c.2594G>A (p.Gly865Asp) c.2480G>A (p.Gly827Asp) c.1199G>A (p.Gly400Asp) c.2549G>A (p.Gly850Asp) c.2464-1503G>A (n.2464-1503G>A) c.2540G>A (p.Gly847Asp) c.1841G>A (p.Gly614Asp) c.2588G>A (p.Gly863Asp) | dbSNP |
| 16 | g.3770857C>A | CA394551550 | CREBBP | c.2593G>T (p.Gly865Cys) c.2479G>T (p.Gly827Cys) c.1198G>T (p.Gly400Cys) c.2548G>T (p.Gly850Cys) c.2464-1504G>T (n.2464-1504G>T) c.2539G>T (p.Gly847Cys) c.1840G>T (p.Gly614Cys) c.2587G>T (p.Gly863Cys) | |
| 16 | g.3770857C= | CA2202950925 | CREBBP | c.2593G= (p.Gly865=) c.2479G= (p.Gly827=) c.1198G= (p.Gly400=) c.2548G= (p.Gly850=) c.2464-1504G= (n.2464-1504G=) c.2539G= (p.Gly847=) c.1840G= (p.Gly614=) c.2587G= (p.Gly863=) | |
| 16 | g.3770857C>G | CA394551552 | CREBBP | c.2593G>C (p.Gly865Arg) c.2479G>C (p.Gly827Arg) c.1198G>C (p.Gly400Arg) c.2548G>C (p.Gly850Arg) c.2464-1504G>C (n.2464-1504G>C) c.2539G>C (p.Gly847Arg) c.1840G>C (p.Gly614Arg) c.2587G>C (p.Gly863Arg) | dbSNP |
| 16 | g.3770857C>T | CA394551553 | CREBBP | c.2593G>A (p.Gly865Ser) c.2479G>A (p.Gly827Ser) c.1198G>A (p.Gly400Ser) c.2548G>A (p.Gly850Ser) c.2464-1504G>A (n.2464-1504G>A) c.2539G>A (p.Gly847Ser) c.1840G>A (p.Gly614Ser) c.2587G>A (p.Gly863Ser) | dbSNP |
| 16 | g.3770858A= | CA2202950927 | CREBBP | c.2592T= (p.Ala864=) c.2478T= (p.Ala826=) c.1197T= (p.Ala399=) c.2547T= (p.Ala849=) c.2464-1505T= (n.2464-1505T=) c.2538T= (p.Ala846=) c.1839T= (p.Ala613=) c.2586T= (p.Ala862=) | |
| 16 | g.3770858A>C | CA493395109 | CREBBP | c.2592T>G (p.Ala864=) c.2478T>G (p.Ala826=) c.1197T>G (p.Ala399=) c.2547T>G (p.Ala849=) c.2464-1505T>G (n.2464-1505T>G) c.2538T>G (p.Ala846=) c.1839T>G (p.Ala613=) c.2586T>G (p.Ala862=) | |
| 16 | g.3770858A>G | CA7870070 | CREBBP | c.2592T>C (p.Ala864=) c.2478T>C (p.Ala826=) c.1197T>C (p.Ala399=) c.2547T>C (p.Ala849=) c.2464-1505T>C (n.2464-1505T>C) c.2538T>C (p.Ala846=) c.1839T>C (p.Ala613=) c.2586T>C (p.Ala862=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3770858A>T | CA493395110 | CREBBP | c.2592T>A (p.Ala864=) c.2478T>A (p.Ala826=) c.1197T>A (p.Ala399=) c.2547T>A (p.Ala849=) c.2464-1505T>A (n.2464-1505T>A) c.2538T>A (p.Ala846=) c.1839T>A (p.Ala613=) c.2586T>A (p.Ala862=) | dbSNP |
| 16 | g.3770859G>A | CA394551560 | CREBBP | c.2591C>T (p.Ala864Val) c.2477C>T (p.Ala826Val) c.1196C>T (p.Ala399Val) c.2546C>T (p.Ala849Val) c.2464-1506C>T (n.2464-1506C>T) c.2537C>T (p.Ala846Val) c.1838C>T (p.Ala613Val) c.2585C>T (p.Ala862Val) | dbSNP |
| 16 | g.3770859G>C | CA394551558 | CREBBP | c.2591C>G (p.Ala864Gly) c.2477C>G (p.Ala826Gly) c.1196C>G (p.Ala399Gly) c.2546C>G (p.Ala849Gly) c.2464-1506C>G (n.2464-1506C>G) c.2537C>G (p.Ala846Gly) c.1838C>G (p.Ala613Gly) c.2585C>G (p.Ala862Gly) | dbSNP |
| 16 | g.3770859G>T | CA394551557 | CREBBP | c.2591C>A (p.Ala864Asp) c.2477C>A (p.Ala826Asp) c.1196C>A (p.Ala399Asp) c.2546C>A (p.Ala849Asp) c.2464-1506C>A (n.2464-1506C>A) c.2537C>A (p.Ala846Asp) c.1838C>A (p.Ala613Asp) c.2585C>A (p.Ala862Asp) | |
| 16 | g.3770860C>A | CA394551563 | CREBBP | c.2590G>T (p.Ala864Ser) c.2476G>T (p.Ala826Ser) c.1195G>T (p.Ala399Ser) c.2545G>T (p.Ala849Ser) c.2464-1507G>T (n.2464-1507G>T) c.2536G>T (p.Ala846Ser) c.1837G>T (p.Ala613Ser) c.2584G>T (p.Ala862Ser) | gnomAD v4 |
| 16 | g.3770860C>G | CA394551565 | CREBBP | c.2590G>C (p.Ala864Pro) c.2476G>C (p.Ala826Pro) c.1195G>C (p.Ala399Pro) c.2545G>C (p.Ala849Pro) c.2464-1507G>C (n.2464-1507G>C) c.2536G>C (p.Ala846Pro) c.1837G>C (p.Ala613Pro) c.2584G>C (p.Ala862Pro) | dbSNP |