Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.3770860C>T | CA394551567 | CREBBP | c.2590G>A (p.Ala864Thr) c.2476G>A (p.Ala826Thr) c.1195G>A (p.Ala399Thr) c.2545G>A (p.Ala849Thr) c.2464-1507G>A (n.2464-1507G>A) c.2536G>A (p.Ala846Thr) c.1837G>A (p.Ala613Thr) c.2584G>A (p.Ala862Thr) | dbSNP |
16 | g.3770861A>C | CA493395113 | CREBBP | c.2589T>G (p.Ala863=) c.2475T>G (p.Ala825=) c.1194T>G (p.Ala398=) c.2544T>G (p.Ala848=) c.2464-1508T>G (n.2464-1508T>G) c.2535T>G (p.Ala845=) c.1836T>G (p.Ala612=) c.2583T>G (p.Ala861=) | dbSNP |
16 | g.3770861A>G | CA493395114 | CREBBP | c.2589T>C (p.Ala863=) c.2475T>C (p.Ala825=) c.1194T>C (p.Ala398=) c.2544T>C (p.Ala848=) c.2464-1508T>C (n.2464-1508T>C) c.2535T>C (p.Ala845=) c.1836T>C (p.Ala612=) c.2583T>C (p.Ala861=) | dbSNP |
16 | g.3770861A>T | CA493395116 | CREBBP | c.2589T>A (p.Ala863=) c.2475T>A (p.Ala825=) c.1194T>A (p.Ala398=) c.2544T>A (p.Ala848=) c.2464-1508T>A (n.2464-1508T>A) c.2535T>A (p.Ala845=) c.1836T>A (p.Ala612=) c.2583T>A (p.Ala861=) | dbSNP |
16 | g.3770862G>A | CA394551568 | CREBBP | c.2588C>T (p.Ala863Val) c.2474C>T (p.Ala825Val) c.1193C>T (p.Ala398Val) c.2543C>T (p.Ala848Val) c.2464-1509C>T (n.2464-1509C>T) c.2534C>T (p.Ala845Val) c.1835C>T (p.Ala612Val) c.2582C>T (p.Ala861Val) | dbSNP |
16 | g.3770862G>C | CA394551570 | CREBBP | c.2588C>G (p.Ala863Gly) c.2474C>G (p.Ala825Gly) c.1193C>G (p.Ala398Gly) c.2543C>G (p.Ala848Gly) c.2464-1509C>G (n.2464-1509C>G) c.2534C>G (p.Ala845Gly) c.1835C>G (p.Ala612Gly) c.2582C>G (p.Ala861Gly) | dbSNP |
16 | g.3770862G>T | CA394551572 | CREBBP | c.2588C>A (p.Ala863Asp) c.2474C>A (p.Ala825Asp) c.1193C>A (p.Ala398Asp) c.2543C>A (p.Ala848Asp) c.2464-1509C>A (n.2464-1509C>A) c.2534C>A (p.Ala845Asp) c.1835C>A (p.Ala612Asp) c.2582C>A (p.Ala861Asp) | |
16 | g.3770863C>A | CA394551574 | CREBBP | c.2587G>T (p.Ala863Ser) c.2473G>T (p.Ala825Ser) c.1192G>T (p.Ala398Ser) c.2542G>T (p.Ala848Ser) c.2464-1510G>T (n.2464-1510G>T) c.2533G>T (p.Ala845Ser) c.1834G>T (p.Ala612Ser) c.2581G>T (p.Ala861Ser) | |
16 | g.3770863C>G | CA394551577 | CREBBP | c.2587G>C (p.Ala863Pro) c.2473G>C (p.Ala825Pro) c.1192G>C (p.Ala398Pro) c.2542G>C (p.Ala848Pro) c.2464-1510G>C (n.2464-1510G>C) c.2533G>C (p.Ala845Pro) c.1834G>C (p.Ala612Pro) c.2581G>C (p.Ala861Pro) | |
16 | g.3770863C>T | CA394551575 | CREBBP | c.2587G>A (p.Ala863Thr) c.2473G>A (p.Ala825Thr) c.1192G>A (p.Ala398Thr) c.2542G>A (p.Ala848Thr) c.2464-1510G>A (n.2464-1510G>A) c.2533G>A (p.Ala845Thr) c.1834G>A (p.Ala612Thr) c.2581G>A (p.Ala861Thr) | COSMIC |
16 | g.3770864C>A | CA493395118 | CREBBP | c.2586G>T (p.Thr862=) c.2472G>T (p.Thr824=) c.1191G>T (p.Thr397=) c.2541G>T (p.Thr847=) c.2464-1511G>T (n.2464-1511G>T) c.2532G>T (p.Thr844=) c.1833G>T (p.Thr611=) c.2580G>T (p.Thr860=) | dbSNP |
16 | g.3770864C= | CA2202950929 | CREBBP | c.2586G= (p.Thr862=) c.2472G= (p.Thr824=) c.1191G= (p.Thr397=) c.2541G= (p.Thr847=) c.2464-1511G= (n.2464-1511G=) c.2532G= (p.Thr844=) c.1833G= (p.Thr611=) c.2580G= (p.Thr860=) | |
16 | g.3770864C>G | CA493395119 | CREBBP | c.2586G>C (p.Thr862=) c.2472G>C (p.Thr824=) c.1191G>C (p.Thr397=) c.2541G>C (p.Thr847=) c.2464-1511G>C (n.2464-1511G>C) c.2532G>C (p.Thr844=) c.1833G>C (p.Thr611=) c.2580G>C (p.Thr860=) | dbSNP |
16 | g.3770864C>T | CA493395121 | CREBBP | c.2586G>A (p.Thr862=) c.2472G>A (p.Thr824=) c.1191G>A (p.Thr397=) c.2541G>A (p.Thr847=) c.2464-1511G>A (n.2464-1511G>A) c.2532G>A (p.Thr844=) c.1833G>A (p.Thr611=) c.2580G>A (p.Thr860=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770865G>A | CA7870071 | CREBBP | c.2585C>T (p.Thr862Met) c.2471C>T (p.Thr824Met) c.1190C>T (p.Thr397Met) c.2540C>T (p.Thr847Met) c.2464-1512C>T (n.2464-1512C>T) c.2531C>T (p.Thr844Met) c.1832C>T (p.Thr611Met) c.2579C>T (p.Thr860Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770865G>C | CA394551580 | CREBBP | c.2585C>G (p.Thr862Arg) c.2471C>G (p.Thr824Arg) c.1190C>G (p.Thr397Arg) c.2540C>G (p.Thr847Arg) c.2464-1512C>G (n.2464-1512C>G) c.2531C>G (p.Thr844Arg) c.1832C>G (p.Thr611Arg) c.2579C>G (p.Thr860Arg) | dbSNP |
16 | g.3770865G= | CA2202950931 | CREBBP | c.2585C= (p.Thr862=) c.2471C= (p.Thr824=) c.1190C= (p.Thr397=) c.2540C= (p.Thr847=) c.2464-1512C= (n.2464-1512C=) c.2531C= (p.Thr844=) c.1832C= (p.Thr611=) c.2579C= (p.Thr860=) | |
16 | g.3770865G>T | CA394551582 | CREBBP | c.2585C>A (p.Thr862Lys) c.2471C>A (p.Thr824Lys) c.1190C>A (p.Thr397Lys) c.2540C>A (p.Thr847Lys) c.2464-1512C>A (n.2464-1512C>A) c.2531C>A (p.Thr844Lys) c.1832C>A (p.Thr611Lys) c.2579C>A (p.Thr860Lys) | |
16 | g.3770866T>A | CA394551584 | CREBBP | c.2584A>T (p.Thr862Ser) c.2470A>T (p.Thr824Ser) c.1189A>T (p.Thr397Ser) c.2539A>T (p.Thr847Ser) c.2464-1513A>T (n.2464-1513A>T) c.2530A>T (p.Thr844Ser) c.1831A>T (p.Thr611Ser) c.2578A>T (p.Thr860Ser) | dbSNP |
16 | g.3770866T>C | CA394551585 | CREBBP | c.2584A>G (p.Thr862Ala) c.2470A>G (p.Thr824Ala) c.1189A>G (p.Thr397Ala) c.2539A>G (p.Thr847Ala) c.2464-1513A>G (n.2464-1513A>G) c.2530A>G (p.Thr844Ala) c.1831A>G (p.Thr611Ala) c.2578A>G (p.Thr860Ala) | |
16 | g.3770866T>G | CA394551587 | CREBBP | c.2584A>C (p.Thr862Pro) c.2470A>C (p.Thr824Pro) c.1189A>C (p.Thr397Pro) c.2539A>C (p.Thr847Pro) c.2464-1513A>C (n.2464-1513A>C) c.2530A>C (p.Thr844Pro) c.1831A>C (p.Thr611Pro) c.2578A>C (p.Thr860Pro) | |
16 | g.3770867G>A | CA493395124 | CREBBP | c.2583C>T (p.Ser861=) c.2469C>T (p.Ser823=) c.1188C>T (p.Ser396=) c.2538C>T (p.Ser846=) c.2464-1514C>T (n.2464-1514C>T) c.2529C>T (p.Ser843=) c.1830C>T (p.Ser610=) c.2577C>T (p.Ser859=) | dbSNP |
16 | g.3770867G>C | CA493395126 | CREBBP | c.2583C>G (p.Ser861=) c.2469C>G (p.Ser823=) c.1188C>G (p.Ser396=) c.2538C>G (p.Ser846=) c.2464-1514C>G (n.2464-1514C>G) c.2529C>G (p.Ser843=) c.1830C>G (p.Ser610=) c.2577C>G (p.Ser859=) | dbSNP |
16 | g.3770867G>T | CA493395128 | CREBBP | c.2583C>A (p.Ser861=) c.2469C>A (p.Ser823=) c.1188C>A (p.Ser396=) c.2538C>A (p.Ser846=) c.2464-1514C>A (n.2464-1514C>A) c.2529C>A (p.Ser843=) c.1830C>A (p.Ser610=) c.2577C>A (p.Ser859=) | |
16 | g.3770868G>A | CA276969106 | CREBBP | c.2582C>T (p.Ser861Phe) c.2468C>T (p.Ser823Phe) c.1187C>T (p.Ser396Phe) c.2537C>T (p.Ser846Phe) c.2464-1515C>T (n.2464-1515C>T) c.2528C>T (p.Ser843Phe) c.1829C>T (p.Ser610Phe) c.2576C>T (p.Ser859Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770868G>C | CA394551589 | CREBBP | c.2582C>G (p.Ser861Cys) c.2468C>G (p.Ser823Cys) c.1187C>G (p.Ser396Cys) c.2537C>G (p.Ser846Cys) c.2464-1515C>G (n.2464-1515C>G) c.2528C>G (p.Ser843Cys) c.1829C>G (p.Ser610Cys) c.2576C>G (p.Ser859Cys) | dbSNP |
16 | g.3770868G= | CA2202950934 | CREBBP | c.2582C= (p.Ser861=) c.2468C= (p.Ser823=) c.1187C= (p.Ser396=) c.2537C= (p.Ser846=) c.2464-1515C= (n.2464-1515C=) c.2528C= (p.Ser843=) c.1829C= (p.Ser610=) c.2576C= (p.Ser859=) | |
16 | g.3770868G>T | CA394551591 | CREBBP | c.2582C>A (p.Ser861Tyr) c.2468C>A (p.Ser823Tyr) c.1187C>A (p.Ser396Tyr) c.2537C>A (p.Ser846Tyr) c.2464-1515C>A (n.2464-1515C>A) c.2528C>A (p.Ser843Tyr) c.1829C>A (p.Ser610Tyr) c.2576C>A (p.Ser859Tyr) | gnomAD v4 |
16 | g.3770869A>C | CA394551592 | CREBBP | c.2581T>G (p.Ser861Ala) c.2467T>G (p.Ser823Ala) c.1186T>G (p.Ser396Ala) c.2536T>G (p.Ser846Ala) c.2464-1516T>G (n.2464-1516T>G) c.2527T>G (p.Ser843Ala) c.1828T>G (p.Ser610Ala) c.2575T>G (p.Ser859Ala) | |
16 | g.3770869A>G | CA394551594 | CREBBP | c.2581T>C (p.Ser861Pro) c.2467T>C (p.Ser823Pro) c.1186T>C (p.Ser396Pro) c.2536T>C (p.Ser846Pro) c.2464-1516T>C (n.2464-1516T>C) c.2527T>C (p.Ser843Pro) c.1828T>C (p.Ser610Pro) c.2575T>C (p.Ser859Pro) | dbSNP gnomAD v4 |
16 | g.3770869A>T | CA394551596 | CREBBP | c.2581T>A (p.Ser861Thr) c.2467T>A (p.Ser823Thr) c.1186T>A (p.Ser396Thr) c.2536T>A (p.Ser846Thr) c.2464-1516T>A (n.2464-1516T>A) c.2527T>A (p.Ser843Thr) c.1828T>A (p.Ser610Thr) c.2575T>A (p.Ser859Thr) | dbSNP |
16 | g.3770870A>C | CA493395131 | CREBBP | c.2580T>G (p.Ala860=) c.2466T>G (p.Ala822=) c.1185T>G (p.Ala395=) c.2535T>G (p.Ala845=) c.2464-1517T>G (n.2464-1517T>G) c.2526T>G (p.Ala842=) c.1827T>G (p.Ala609=) c.2574T>G (p.Ala858=) | |
16 | g.3770870A>G | CA493395135 | CREBBP | c.2580T>C (p.Ala860=) c.2466T>C (p.Ala822=) c.1185T>C (p.Ala395=) c.2535T>C (p.Ala845=) c.2464-1517T>C (n.2464-1517T>C) c.2526T>C (p.Ala842=) c.1827T>C (p.Ala609=) c.2574T>C (p.Ala858=) | dbSNP |
16 | g.3770870A>T | CA493395133 | CREBBP | c.2580T>A (p.Ala860=) c.2466T>A (p.Ala822=) c.1185T>A (p.Ala395=) c.2535T>A (p.Ala845=) c.2464-1517T>A (n.2464-1517T>A) c.2526T>A (p.Ala842=) c.1827T>A (p.Ala609=) c.2574T>A (p.Ala858=) | dbSNP |
16 | g.3770871G>A | CA7870072 | CREBBP | c.2579C>T (p.Ala860Val) c.2465C>T (p.Ala822Val) c.1184C>T (p.Ala395Val) c.2534C>T (p.Ala845Val) c.2464-1518C>T (n.2464-1518C>T) c.2525C>T (p.Ala842Val) c.1826C>T (p.Ala609Val) c.2573C>T (p.Ala858Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770871G>C | CA394551599 | CREBBP | c.2579C>G (p.Ala860Gly) c.2465C>G (p.Ala822Gly) c.1184C>G (p.Ala395Gly) c.2534C>G (p.Ala845Gly) c.2464-1518C>G (n.2464-1518C>G) c.2525C>G (p.Ala842Gly) c.1826C>G (p.Ala609Gly) c.2573C>G (p.Ala858Gly) | dbSNP |
16 | g.3770871G= | CA2202950937 | CREBBP | c.2579C= (p.Ala860=) c.2465C= (p.Ala822=) c.1184C= (p.Ala395=) c.2534C= (p.Ala845=) c.2464-1518C= (n.2464-1518C=) c.2525C= (p.Ala842=) c.1826C= (p.Ala609=) c.2573C= (p.Ala858=) | |
16 | g.3770871G>T | CA394551597 | CREBBP | c.2579C>A (p.Ala860Asp) c.2465C>A (p.Ala822Asp) c.1184C>A (p.Ala395Asp) c.2534C>A (p.Ala845Asp) c.2464-1518C>A (n.2464-1518C>A) c.2525C>A (p.Ala842Asp) c.1826C>A (p.Ala609Asp) c.2573C>A (p.Ala858Asp) | gnomAD v4 |
16 | g.3770872C>A | CA394551606 | CREBBP | c.2578G>T (p.Ala860Ser) c.2464G>T (p.Ala822Ser) c.1183G>T (p.Ala395Ser) c.2533G>T (p.Ala845Ser) c.2464-1519G>T (n.2464-1519G>T) c.2524G>T (p.Ala842Ser) c.1825G>T (p.Ala609Ser) c.2572G>T (p.Ala858Ser) | dbSNP |
16 | g.3770872C>G | CA394551602 | CREBBP | c.2578G>C (p.Ala860Pro) c.2464G>C (p.Ala822Pro) c.1183G>C (p.Ala395Pro) c.2533G>C (p.Ala845Pro) c.2464-1519G>C (n.2464-1519G>C) c.2524G>C (p.Ala842Pro) c.1825G>C (p.Ala609Pro) c.2572G>C (p.Ala858Pro) | dbSNP |
16 | g.3770872C>T | CA394551604 | CREBBP | c.2578G>A (p.Ala860Thr) c.2464G>A (p.Ala822Thr) c.1183G>A (p.Ala395Thr) c.2533G>A (p.Ala845Thr) c.2464-1519G>A (n.2464-1519G>A) c.2524G>A (p.Ala842Thr) c.1825G>A (p.Ala609Thr) c.2572G>A (p.Ala858Thr) | dbSNP |
16 | g.3770873A= | CA2202950941 | CREBBP | c.2577T= (p.Pro859=) c.2463T= (p.Pro821=) c.1182T= (p.Pro394=) c.2532T= (p.Pro844=) c.2464-1520T= (n.2464-1520T=) c.2523T= (p.Pro841=) c.1824T= (p.Pro608=) c.2571T= (p.Pro857=) | |
16 | g.3770873A>C | CA493395137 | CREBBP | c.2577T>G (p.Pro859=) c.2463T>G (p.Pro821=) c.1182T>G (p.Pro394=) c.2532T>G (p.Pro844=) c.2464-1520T>G (n.2464-1520T>G) c.2523T>G (p.Pro841=) c.1824T>G (p.Pro608=) c.2571T>G (p.Pro857=) | |
16 | g.3770873A>G | CA276969111 | CREBBP | c.2577T>C (p.Pro859=) c.2463T>C (p.Pro821=) c.1182T>C (p.Pro394=) c.2532T>C (p.Pro844=) c.2464-1520T>C (n.2464-1520T>C) c.2523T>C (p.Pro841=) c.1824T>C (p.Pro608=) c.2571T>C (p.Pro857=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770873A>T | CA493395138 | CREBBP | c.2577T>A (p.Pro859=) c.2463T>A (p.Pro821=) c.1182T>A (p.Pro394=) c.2532T>A (p.Pro844=) c.2464-1520T>A (n.2464-1520T>A) c.2523T>A (p.Pro841=) c.1824T>A (p.Pro608=) c.2571T>A (p.Pro857=) | dbSNP |
16 | g.3770874G>A | CA394551608 | CREBBP | c.2576C>T (p.Pro859Leu) c.2462C>T (p.Pro821Leu) c.1181C>T (p.Pro394Leu) c.2531C>T (p.Pro844Leu) c.2464-1521C>T (n.2464-1521C>T) c.2522C>T (p.Pro841Leu) c.1823C>T (p.Pro608Leu) c.2570C>T (p.Pro857Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770874G>C | CA394551609 | CREBBP | c.2576C>G (p.Pro859Arg) c.2462C>G (p.Pro821Arg) c.1181C>G (p.Pro394Arg) c.2531C>G (p.Pro844Arg) c.2464-1521C>G (n.2464-1521C>G) c.2522C>G (p.Pro841Arg) c.1823C>G (p.Pro608Arg) c.2570C>G (p.Pro857Arg) | dbSNP |
16 | g.3770874G= | CA2202950943 | CREBBP | c.2576C= (p.Pro859=) c.2462C= (p.Pro821=) c.1181C= (p.Pro394=) c.2531C= (p.Pro844=) c.2464-1521C= (n.2464-1521C=) c.2522C= (p.Pro841=) c.1823C= (p.Pro608=) c.2570C= (p.Pro857=) | |
16 | g.3770874G>T | CA394551611 | CREBBP | c.2576C>A (p.Pro859His) c.2462C>A (p.Pro821His) c.1181C>A (p.Pro394His) c.2531C>A (p.Pro844His) c.2464-1521C>A (n.2464-1521C>A) c.2522C>A (p.Pro841His) c.1823C>A (p.Pro608His) c.2570C>A (p.Pro857His) | |
16 | g.3770875G>A | CA7870073 | CREBBP | c.2575C>T (p.Pro859Ser) c.2461C>T (p.Pro821Ser) c.1180C>T (p.Pro394Ser) c.2530C>T (p.Pro844Ser) c.2464-1522C>T (n.2464-1522C>T) c.2521C>T (p.Pro841Ser) c.1822C>T (p.Pro608Ser) c.2569C>T (p.Pro857Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770875G>C | CA394551614 | CREBBP | c.2575C>G (p.Pro859Ala) c.2461C>G (p.Pro821Ala) c.1180C>G (p.Pro394Ala) c.2530C>G (p.Pro844Ala) c.2464-1522C>G (n.2464-1522C>G) c.2521C>G (p.Pro841Ala) c.1822C>G (p.Pro608Ala) c.2569C>G (p.Pro857Ala) | dbSNP |
16 | g.3770875G= | CA2202950945 | CREBBP | c.2575C= (p.Pro859=) c.2461C= (p.Pro821=) c.1180C= (p.Pro394=) c.2530C= (p.Pro844=) c.2464-1522C= (n.2464-1522C=) c.2521C= (p.Pro841=) c.1822C= (p.Pro608=) c.2569C= (p.Pro857=) | |
16 | g.3770875G>T | CA394551616 | CREBBP | c.2575C>A (p.Pro859Thr) c.2461C>A (p.Pro821Thr) c.1180C>A (p.Pro394Thr) c.2530C>A (p.Pro844Thr) c.2464-1522C>A (n.2464-1522C>A) c.2521C>A (p.Pro841Thr) c.1822C>A (p.Pro608Thr) c.2569C>A (p.Pro857Thr) | |
16 | g.3770876A= | CA2202950947 | CREBBP | c.2574T= (p.Pro858=) c.2460T= (p.Pro820=) c.1179T= (p.Pro393=) c.2529T= (p.Pro843=) c.2464-1523T= (n.2464-1523T=) c.2520T= (p.Pro840=) c.1821T= (p.Pro607=) c.2568T= (p.Pro856=) | |
16 | g.3770876A>C | CA493394868 | CREBBP | c.2574T>G (p.Pro858=) c.2460T>G (p.Pro820=) c.1179T>G (p.Pro393=) c.2529T>G (p.Pro843=) c.2464-1523T>G (n.2464-1523T>G) c.2520T>G (p.Pro840=) c.1821T>G (p.Pro607=) c.2568T>G (p.Pro856=) | |
16 | g.3770876A>G | CA493394871 | CREBBP | c.2574T>C (p.Pro858=) c.2460T>C (p.Pro820=) c.1179T>C (p.Pro393=) c.2529T>C (p.Pro843=) c.2464-1523T>C (n.2464-1523T>C) c.2520T>C (p.Pro840=) c.1821T>C (p.Pro607=) c.2568T>C (p.Pro856=) | dbSNP |
16 | g.3770876A>T | CA493394873 | CREBBP | c.2574T>A (p.Pro858=) c.2460T>A (p.Pro820=) c.1179T>A (p.Pro393=) c.2529T>A (p.Pro843=) c.2464-1523T>A (n.2464-1523T>A) c.2520T>A (p.Pro840=) c.1821T>A (p.Pro607=) c.2568T>A (p.Pro856=) | dbSNP |
16 | g.3770876dup | CA1139770976 | CREBBP | c.2574dup (p.Pro859SerfsTer?) c.2460dup (p.Pro821SerfsTer?) c.1179dup (p.Pro394SerfsTer?) c.2529dup (p.Pro844SerfsTer?) c.2464-1523dup (n.2464-1523dup) c.2520dup (p.Pro841SerfsTer?) c.1821dup (p.Pro608SerfsTer?) c.2568dup (p.Pro857SerfsTer?) | ClinVar dbSNP |
16 | g.3770877G>A | CA394551619 | CREBBP | c.2573C>T (p.Pro858Leu) c.2459C>T (p.Pro820Leu) c.1178C>T (p.Pro393Leu) c.2528C>T (p.Pro843Leu) c.2464-1524C>T (n.2464-1524C>T) c.2519C>T (p.Pro840Leu) c.1820C>T (p.Pro607Leu) c.2567C>T (p.Pro856Leu) | dbSNP COSMIC |
16 | g.3770877G>C | CA394551620 | CREBBP | c.2573C>G (p.Pro858Arg) c.2459C>G (p.Pro820Arg) c.1178C>G (p.Pro393Arg) c.2528C>G (p.Pro843Arg) c.2464-1524C>G (n.2464-1524C>G) c.2519C>G (p.Pro840Arg) c.1820C>G (p.Pro607Arg) c.2567C>G (p.Pro856Arg) | dbSNP |
16 | g.3770877G>T | CA394551621 | CREBBP | c.2573C>A (p.Pro858His) c.2459C>A (p.Pro820His) c.1178C>A (p.Pro393His) c.2528C>A (p.Pro843His) c.2464-1524C>A (n.2464-1524C>A) c.2519C>A (p.Pro840His) c.1820C>A (p.Pro607His) c.2567C>A (p.Pro856His) | |
16 | g.3770878G>A | CA158170 | CREBBP | c.2572C>T (p.Pro858Ser) c.2458C>T (p.Pro820Ser) c.1177C>T (p.Pro393Ser) c.2527C>T (p.Pro843Ser) c.2464-1525C>T (n.2464-1525C>T) c.2518C>T (p.Pro840Ser) c.1819C>T (p.Pro607Ser) c.2566C>T (p.Pro856Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770878G>C | CA394551625 | CREBBP | c.2572C>G (p.Pro858Ala) c.2458C>G (p.Pro820Ala) c.1177C>G (p.Pro393Ala) c.2527C>G (p.Pro843Ala) c.2464-1525C>G (n.2464-1525C>G) c.2518C>G (p.Pro840Ala) c.1819C>G (p.Pro607Ala) c.2566C>G (p.Pro856Ala) | dbSNP |
16 | g.3770878G= | CA2202950951 | CREBBP | c.2572C= (p.Pro858=) c.2458C= (p.Pro820=) c.1177C= (p.Pro393=) c.2527C= (p.Pro843=) c.2464-1525C= (n.2464-1525C=) c.2518C= (p.Pro840=) c.1819C= (p.Pro607=) c.2566C= (p.Pro856=) | |
16 | g.3770878G>T | CA394551623 | CREBBP | c.2572C>A (p.Pro858Thr) c.2458C>A (p.Pro820Thr) c.1177C>A (p.Pro393Thr) c.2527C>A (p.Pro843Thr) c.2464-1525C>A (n.2464-1525C>A) c.2518C>A (p.Pro840Thr) c.1819C>A (p.Pro607Thr) c.2566C>A (p.Pro856Thr) | |
16 | g.3770879C>A | CA7870075 | CREBBP | c.2571G>T (p.Pro857=) c.2457G>T (p.Pro819=) c.1176G>T (p.Pro392=) c.2526G>T (p.Pro842=) c.2464-1526G>T (n.2464-1526G>T) c.2517G>T (p.Pro839=) c.1818G>T (p.Pro606=) c.2565G>T (p.Pro855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770879C= | CA2202950955 | CREBBP | c.2571G= (p.Pro857=) c.2457G= (p.Pro819=) c.1176G= (p.Pro392=) c.2526G= (p.Pro842=) c.2464-1526G= (n.2464-1526G=) c.2517G= (p.Pro839=) c.1818G= (p.Pro606=) c.2565G= (p.Pro855=) | |
16 | g.3770879C>G | CA493394877 | CREBBP | c.2571G>C (p.Pro857=) c.2457G>C (p.Pro819=) c.1176G>C (p.Pro392=) c.2526G>C (p.Pro842=) c.2464-1526G>C (n.2464-1526G>C) c.2517G>C (p.Pro839=) c.1818G>C (p.Pro606=) c.2565G>C (p.Pro855=) | dbSNP |
16 | g.3770879C>T | CA7870074 | CREBBP | c.2571G>A (p.Pro857=) c.2457G>A (p.Pro819=) c.1176G>A (p.Pro392=) c.2526G>A (p.Pro842=) c.2464-1526G>A (n.2464-1526G>A) c.2517G>A (p.Pro839=) c.1818G>A (p.Pro606=) c.2565G>A (p.Pro855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770880G>A | CA7870076 | CREBBP | c.2570C>T (p.Pro857Leu) c.2456C>T (p.Pro819Leu) c.1175C>T (p.Pro392Leu) c.2525C>T (p.Pro842Leu) c.2464-1527C>T (n.2464-1527C>T) c.2516C>T (p.Pro839Leu) c.1817C>T (p.Pro606Leu) c.2564C>T (p.Pro855Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770880G>C | CA276969127 | CREBBP | c.2570C>G (p.Pro857Arg) c.2456C>G (p.Pro819Arg) c.1175C>G (p.Pro392Arg) c.2525C>G (p.Pro842Arg) c.2464-1527C>G (n.2464-1527C>G) c.2516C>G (p.Pro839Arg) c.1817C>G (p.Pro606Arg) c.2564C>G (p.Pro855Arg) | dbSNP |
16 | g.3770880G= | CA2202950960 | CREBBP | c.2570C= (p.Pro857=) c.2456C= (p.Pro819=) c.1175C= (p.Pro392=) c.2525C= (p.Pro842=) c.2464-1527C= (n.2464-1527C=) c.2516C= (p.Pro839=) c.1817C= (p.Pro606=) c.2564C= (p.Pro855=) | |
16 | g.3770880G>T | CA394551630 | CREBBP | c.2570C>A (p.Pro857Gln) c.2456C>A (p.Pro819Gln) c.1175C>A (p.Pro392Gln) c.2525C>A (p.Pro842Gln) c.2464-1527C>A (n.2464-1527C>A) c.2516C>A (p.Pro839Gln) c.1817C>A (p.Pro606Gln) c.2564C>A (p.Pro855Gln) | dbSNP |
16 | g.3770881G>A | CA394551636 | CREBBP | c.2569C>T (p.Pro857Ser) c.2455C>T (p.Pro819Ser) c.1174C>T (p.Pro392Ser) c.2524C>T (p.Pro842Ser) c.2464-1528C>T (n.2464-1528C>T) c.2515C>T (p.Pro839Ser) c.1816C>T (p.Pro606Ser) c.2563C>T (p.Pro855Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770881G>C | CA394551632 | CREBBP | c.2569C>G (p.Pro857Ala) c.2455C>G (p.Pro819Ala) c.1174C>G (p.Pro392Ala) c.2524C>G (p.Pro842Ala) c.2464-1528C>G (n.2464-1528C>G) c.2515C>G (p.Pro839Ala) c.1816C>G (p.Pro606Ala) c.2563C>G (p.Pro855Ala) | dbSNP |
16 | g.3770881G= | CA2202950965 | CREBBP | c.2569C= (p.Pro857=) c.2455C= (p.Pro819=) c.1174C= (p.Pro392=) c.2524C= (p.Pro842=) c.2464-1528C= (n.2464-1528C=) c.2515C= (p.Pro839=) c.1816C= (p.Pro606=) c.2563C= (p.Pro855=) | |
16 | g.3770881G>T | CA394551634 | CREBBP | c.2569C>A (p.Pro857Thr) c.2455C>A (p.Pro819Thr) c.1174C>A (p.Pro392Thr) c.2524C>A (p.Pro842Thr) c.2464-1528C>A (n.2464-1528C>A) c.2515C>A (p.Pro839Thr) c.1816C>A (p.Pro606Thr) c.2563C>A (p.Pro855Thr) | dbSNP |
16 | g.3770882T>A | CA7870078 | CREBBP | c.2568A>T (p.Thr856=) c.2454A>T (p.Thr818=) c.1173A>T (p.Thr391=) c.2523A>T (p.Thr841=) c.2464-1529A>T (n.2464-1529A>T) c.2514A>T (p.Thr838=) c.1815A>T (p.Thr605=) c.2562A>T (p.Thr854=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770882T>C | CA7870077 | CREBBP | c.2568A>G (p.Thr856=) c.2454A>G (p.Thr818=) c.1173A>G (p.Thr391=) c.2523A>G (p.Thr841=) c.2464-1529A>G (n.2464-1529A>G) c.2514A>G (p.Thr838=) c.1815A>G (p.Thr605=) c.2562A>G (p.Thr854=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770882T>G | CA493394879 | CREBBP | c.2568A>C (p.Thr856=) c.2454A>C (p.Thr818=) c.1173A>C (p.Thr391=) c.2523A>C (p.Thr841=) c.2464-1529A>C (n.2464-1529A>C) c.2514A>C (p.Thr838=) c.1815A>C (p.Thr605=) c.2562A>C (p.Thr854=) | dbSNP gnomAD v4 |
16 | g.3770882T= | CA2202950968 | CREBBP | c.2568A= (p.Thr856=) c.2454A= (p.Thr818=) c.1173A= (p.Thr391=) c.2523A= (p.Thr841=) c.2464-1529A= (n.2464-1529A=) c.2514A= (p.Thr838=) c.1815A= (p.Thr605=) c.2562A= (p.Thr854=) | |
16 | g.3770883G>A | CA394551640 | CREBBP | c.2567C>T (p.Thr856Ile) c.2453C>T (p.Thr818Ile) c.1172C>T (p.Thr391Ile) c.2522C>T (p.Thr841Ile) c.2464-1530C>T (n.2464-1530C>T) c.2513C>T (p.Thr838Ile) c.1814C>T (p.Thr605Ile) c.2561C>T (p.Thr854Ile) | dbSNP COSMIC |
16 | g.3770883G>C | CA394551641 | CREBBP | c.2567C>G (p.Thr856Arg) c.2453C>G (p.Thr818Arg) c.1172C>G (p.Thr391Arg) c.2522C>G (p.Thr841Arg) c.2464-1530C>G (n.2464-1530C>G) c.2513C>G (p.Thr838Arg) c.1814C>G (p.Thr605Arg) c.2561C>G (p.Thr854Arg) | dbSNP |
16 | g.3770883G>T | CA394551643 | CREBBP | c.2567C>A (p.Thr856Lys) c.2453C>A (p.Thr818Lys) c.1172C>A (p.Thr391Lys) c.2522C>A (p.Thr841Lys) c.2464-1530C>A (n.2464-1530C>A) c.2513C>A (p.Thr838Lys) c.1814C>A (p.Thr605Lys) c.2561C>A (p.Thr854Lys) | |
16 | g.3770884T>A | CA394551648 | CREBBP | c.2566A>T (p.Thr856Ser) c.2452A>T (p.Thr818Ser) c.1171A>T (p.Thr391Ser) c.2521A>T (p.Thr841Ser) c.2464-1531A>T (n.2464-1531A>T) c.2512A>T (p.Thr838Ser) c.1813A>T (p.Thr605Ser) c.2560A>T (p.Thr854Ser) | |
16 | g.3770884T>C | CA7870079 | CREBBP | c.2566A>G (p.Thr856Ala) c.2452A>G (p.Thr818Ala) c.1171A>G (p.Thr391Ala) c.2521A>G (p.Thr841Ala) c.2464-1531A>G (n.2464-1531A>G) c.2512A>G (p.Thr838Ala) c.1813A>G (p.Thr605Ala) c.2560A>G (p.Thr854Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770884T>G | CA394551645 | CREBBP | c.2566A>C (p.Thr856Pro) c.2452A>C (p.Thr818Pro) c.1171A>C (p.Thr391Pro) c.2521A>C (p.Thr841Pro) c.2464-1531A>C (n.2464-1531A>C) c.2512A>C (p.Thr838Pro) c.1813A>C (p.Thr605Pro) c.2560A>C (p.Thr854Pro) | gnomAD v4 |
16 | g.3770884T= | CA2202950970 | CREBBP | c.2566A= (p.Thr856=) c.2452A= (p.Thr818=) c.1171A= (p.Thr391=) c.2521A= (p.Thr841=) c.2464-1531A= (n.2464-1531A=) c.2512A= (p.Thr838=) c.1813A= (p.Thr605=) c.2560A= (p.Thr854=) | |
16 | g.3770885T>A | CA493394880 | CREBBP | c.2565A>T (p.Pro855=) c.2451A>T (p.Pro817=) c.1170A>T (p.Pro390=) c.2520A>T (p.Pro840=) c.2464-1532A>T (n.2464-1532A>T) c.2511A>T (p.Pro837=) c.1812A>T (p.Pro604=) c.2559A>T (p.Pro853=) | |
16 | g.3770885T>C | CA493394881 | CREBBP | c.2565A>G (p.Pro855=) c.2451A>G (p.Pro817=) c.1170A>G (p.Pro390=) c.2520A>G (p.Pro840=) c.2464-1532A>G (n.2464-1532A>G) c.2511A>G (p.Pro837=) c.1812A>G (p.Pro604=) c.2559A>G (p.Pro853=) | |
16 | g.3770885T>G | CA493394882 | CREBBP | c.2565A>C (p.Pro855=) c.2451A>C (p.Pro817=) c.1170A>C (p.Pro390=) c.2520A>C (p.Pro840=) c.2464-1532A>C (n.2464-1532A>C) c.2511A>C (p.Pro837=) c.1812A>C (p.Pro604=) c.2559A>C (p.Pro853=) | |
16 | g.3770886G>A | CA7870080 | CREBBP | c.2564C>T (p.Pro855Leu) c.2450C>T (p.Pro817Leu) c.1169C>T (p.Pro390Leu) c.2519C>T (p.Pro840Leu) c.2464-1533C>T (n.2464-1533C>T) c.2510C>T (p.Pro837Leu) c.1811C>T (p.Pro604Leu) c.2558C>T (p.Pro853Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770886G>C | CA394551651 | CREBBP | c.2564C>G (p.Pro855Arg) c.2450C>G (p.Pro817Arg) c.1169C>G (p.Pro390Arg) c.2519C>G (p.Pro840Arg) c.2464-1533C>G (n.2464-1533C>G) c.2510C>G (p.Pro837Arg) c.1811C>G (p.Pro604Arg) c.2558C>G (p.Pro853Arg) | dbSNP |
16 | g.3770886G= | CA2202950972 | CREBBP | c.2564C= (p.Pro855=) c.2450C= (p.Pro817=) c.1169C= (p.Pro390=) c.2519C= (p.Pro840=) c.2464-1533C= (n.2464-1533C=) c.2510C= (p.Pro837=) c.1811C= (p.Pro604=) c.2558C= (p.Pro853=) | |
16 | g.3770886G>T | CA394551652 | CREBBP | c.2564C>A (p.Pro855Gln) c.2450C>A (p.Pro817Gln) c.1169C>A (p.Pro390Gln) c.2519C>A (p.Pro840Gln) c.2464-1533C>A (n.2464-1533C>A) c.2510C>A (p.Pro837Gln) c.1811C>A (p.Pro604Gln) c.2558C>A (p.Pro853Gln) | dbSNP |
16 | g.3770887G>A | CA394551655 | CREBBP | c.2563C>T (p.Pro855Ser) c.2449C>T (p.Pro817Ser) c.1168C>T (p.Pro390Ser) c.2518C>T (p.Pro840Ser) c.2464-1534C>T (n.2464-1534C>T) c.2509C>T (p.Pro837Ser) c.1810C>T (p.Pro604Ser) c.2557C>T (p.Pro853Ser) | dbSNP |
16 | g.3770887G>C | CA394551656 | CREBBP | c.2563C>G (p.Pro855Ala) c.2449C>G (p.Pro817Ala) c.1168C>G (p.Pro390Ala) c.2518C>G (p.Pro840Ala) c.2464-1534C>G (n.2464-1534C>G) c.2509C>G (p.Pro837Ala) c.1810C>G (p.Pro604Ala) c.2557C>G (p.Pro853Ala) | dbSNP |
16 | g.3770887G>T | CA394551658 | CREBBP | c.2563C>A (p.Pro855Thr) c.2449C>A (p.Pro817Thr) c.1168C>A (p.Pro390Thr) c.2518C>A (p.Pro840Thr) c.2464-1534C>A (n.2464-1534C>A) c.2509C>A (p.Pro837Thr) c.1810C>A (p.Pro604Thr) c.2557C>A (p.Pro853Thr) | dbSNP |
16 | g.3770888G>A | CA493394884 | CREBBP | c.2562C>T (p.His854=) c.2448C>T (p.His816=) c.1167C>T (p.His389=) c.2517C>T (p.His839=) c.2464-1535C>T (n.2464-1535C>T) c.2508C>T (p.His836=) c.1809C>T (p.His603=) c.2556C>T (p.His852=) | dbSNP COSMIC |
16 | g.3770888G>C | CA276969134 | CREBBP | c.2562C>G (p.His854Gln) c.2448C>G (p.His816Gln) c.1167C>G (p.His389Gln) c.2517C>G (p.His839Gln) c.2464-1535C>G (n.2464-1535C>G) c.2508C>G (p.His836Gln) c.1809C>G (p.His603Gln) c.2556C>G (p.His852Gln) | dbSNP gnomAD v4 |
16 | g.3770888G= | CA2202950976 | CREBBP | c.2562C= (p.His854=) c.2448C= (p.His816=) c.1167C= (p.His389=) c.2517C= (p.His839=) c.2464-1535C= (n.2464-1535C=) c.2508C= (p.His836=) c.1809C= (p.His603=) c.2556C= (p.His852=) | |
16 | g.3770888G>T | CA394551660 | CREBBP | c.2562C>A (p.His854Gln) c.2448C>A (p.His816Gln) c.1167C>A (p.His389Gln) c.2517C>A (p.His839Gln) c.2464-1535C>A (n.2464-1535C>A) c.2508C>A (p.His836Gln) c.1809C>A (p.His603Gln) c.2556C>A (p.His852Gln) | |
16 | g.3770889T>A | CA394551663 | CREBBP | c.2561A>T (p.His854Leu) c.2447A>T (p.His816Leu) c.1166A>T (p.His389Leu) c.2516A>T (p.His839Leu) c.2464-1536A>T (n.2464-1536A>T) c.2507A>T (p.His836Leu) c.1808A>T (p.His603Leu) c.2555A>T (p.His852Leu) | dbSNP |
16 | g.3770889T>C | CA394551665 | CREBBP | c.2561A>G (p.His854Arg) c.2447A>G (p.His816Arg) c.1166A>G (p.His389Arg) c.2516A>G (p.His839Arg) c.2464-1536A>G (n.2464-1536A>G) c.2507A>G (p.His836Arg) c.1808A>G (p.His603Arg) c.2555A>G (p.His852Arg) | |
16 | g.3770889T>G | CA7870081 | CREBBP | c.2561A>C (p.His854Pro) c.2447A>C (p.His816Pro) c.1166A>C (p.His389Pro) c.2516A>C (p.His839Pro) c.2464-1536A>C (n.2464-1536A>C) c.2507A>C (p.His836Pro) c.1808A>C (p.His603Pro) c.2555A>C (p.His852Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770889T= | CA2202950978 | CREBBP | c.2561A= (p.His854=) c.2447A= (p.His816=) c.1166A= (p.His389=) c.2516A= (p.His839=) c.2464-1536A= (n.2464-1536A=) c.2507A= (p.His836=) c.1808A= (p.His603=) c.2555A= (p.His852=) | |
16 | g.3770890G>A | CA394551668 | CREBBP | c.2560C>T (p.His854Tyr) c.2446C>T (p.His816Tyr) c.1165C>T (p.His389Tyr) c.2515C>T (p.His839Tyr) c.2464-1537C>T (n.2464-1537C>T) c.2506C>T (p.His836Tyr) c.1807C>T (p.His603Tyr) c.2554C>T (p.His852Tyr) | dbSNP gnomAD v4 |
16 | g.3770890G>C | CA394551670 | CREBBP | c.2560C>G (p.His854Asp) c.2446C>G (p.His816Asp) c.1165C>G (p.His389Asp) c.2515C>G (p.His839Asp) c.2464-1537C>G (n.2464-1537C>G) c.2506C>G (p.His836Asp) c.1807C>G (p.His603Asp) c.2554C>G (p.His852Asp) | dbSNP |
16 | g.3770890G= | CA2202950980 | CREBBP | c.2560C= (p.His854=) c.2446C= (p.His816=) c.1165C= (p.His389=) c.2515C= (p.His839=) c.2464-1537C= (n.2464-1537C=) c.2506C= (p.His836=) c.1807C= (p.His603=) c.2554C= (p.His852=) | |
16 | g.3770890G>T | CA394551672 | CREBBP | c.2560C>A (p.His854Asn) c.2446C>A (p.His816Asn) c.1165C>A (p.His389Asn) c.2515C>A (p.His839Asn) c.2464-1537C>A (n.2464-1537C>A) c.2506C>A (p.His836Asn) c.1807C>A (p.His603Asn) c.2554C>A (p.His852Asn) | |
16 | g.3770891C>A | CA493394889 | CREBBP | c.2559G>T (p.Leu853=) c.2445G>T (p.Leu815=) c.1164G>T (p.Leu388=) c.2514G>T (p.Leu838=) c.2464-1538G>T (n.2464-1538G>T) c.2505G>T (p.Leu835=) c.1806G>T (p.Leu602=) c.2553G>T (p.Leu851=) | dbSNP |
16 | g.3770891C>G | CA493394890 | CREBBP | c.2559G>C (p.Leu853=) c.2445G>C (p.Leu815=) c.1164G>C (p.Leu388=) c.2514G>C (p.Leu838=) c.2464-1538G>C (n.2464-1538G>C) c.2505G>C (p.Leu835=) c.1806G>C (p.Leu602=) c.2553G>C (p.Leu851=) | dbSNP |
16 | g.3770891C>T | CA493394888 | CREBBP | c.2559G>A (p.Leu853=) c.2445G>A (p.Leu815=) c.1164G>A (p.Leu388=) c.2514G>A (p.Leu838=) c.2464-1538G>A (n.2464-1538G>A) c.2505G>A (p.Leu835=) c.1806G>A (p.Leu602=) c.2553G>A (p.Leu851=) | dbSNP |
16 | g.3770892A= | CA2202950984 | CREBBP | c.2558T= (p.Leu853=) c.2444T= (p.Leu815=) c.1163T= (p.Leu388=) c.2513T= (p.Leu838=) c.2464-1539T= (n.2464-1539T=) c.2504T= (p.Leu835=) c.1805T= (p.Leu602=) c.2552T= (p.Leu851=) | |
16 | g.3770892A>C | CA276969144 | CREBBP | c.2558T>G (p.Leu853Arg) c.2444T>G (p.Leu815Arg) c.1163T>G (p.Leu388Arg) c.2513T>G (p.Leu838Arg) c.2464-1539T>G (n.2464-1539T>G) c.2504T>G (p.Leu835Arg) c.1805T>G (p.Leu602Arg) c.2552T>G (p.Leu851Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3770892A>G | CA394551677 | CREBBP | c.2558T>C (p.Leu853Pro) c.2444T>C (p.Leu815Pro) c.1163T>C (p.Leu388Pro) c.2513T>C (p.Leu838Pro) c.2464-1539T>C (n.2464-1539T>C) c.2504T>C (p.Leu835Pro) c.1805T>C (p.Leu602Pro) c.2552T>C (p.Leu851Pro) | ClinVar dbSNP |
16 | g.3770892A>T | CA394551675 | CREBBP | c.2558T>A (p.Leu853Gln) c.2444T>A (p.Leu815Gln) c.1163T>A (p.Leu388Gln) c.2513T>A (p.Leu838Gln) c.2464-1539T>A (n.2464-1539T>A) c.2504T>A (p.Leu835Gln) c.1805T>A (p.Leu602Gln) c.2552T>A (p.Leu851Gln) | dbSNP |
16 | g.3770893G>A | CA493394891 | CREBBP | c.2557C>T (p.Leu853=) c.2443C>T (p.Leu815=) c.1162C>T (p.Leu388=) c.2512C>T (p.Leu838=) c.2464-1540C>T (n.2464-1540C>T) c.2503C>T (p.Leu835=) c.1804C>T (p.Leu602=) c.2551C>T (p.Leu851=) | dbSNP |
16 | g.3770893G>C | CA7870082 | CREBBP | c.2557C>G (p.Leu853Val) c.2443C>G (p.Leu815Val) c.1162C>G (p.Leu388Val) c.2512C>G (p.Leu838Val) c.2464-1540C>G (n.2464-1540C>G) c.2503C>G (p.Leu835Val) c.1804C>G (p.Leu602Val) c.2551C>G (p.Leu851Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770893G= | CA2202950987 | CREBBP | c.2557C= (p.Leu853=) c.2443C= (p.Leu815=) c.1162C= (p.Leu388=) c.2512C= (p.Leu838=) c.2464-1540C= (n.2464-1540C=) c.2503C= (p.Leu835=) c.1804C= (p.Leu602=) c.2551C= (p.Leu851=) | |
16 | g.3770893G>T | CA394551680 | CREBBP | c.2557C>A (p.Leu853Met) c.2443C>A (p.Leu815Met) c.1162C>A (p.Leu388Met) c.2512C>A (p.Leu838Met) c.2464-1540C>A (n.2464-1540C>A) c.2503C>A (p.Leu835Met) c.1804C>A (p.Leu602Met) c.2551C>A (p.Leu851Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770896_3770898dup | CA2631426325 | CREBBP | c.2555_2557dup (p.Pro852_Leu853insPro) c.2441_2443dup (p.Pro814_Leu815insPro) c.1160_1162dup (p.Pro387_Leu388insPro) c.2510_2512dup (p.Pro837_Leu838insPro) c.2464-1542_2464-1540dup (n.2464-1542_2464-1540dup) c.2501_2503dup (p.Pro834_Leu835insPro) c.1802_1804dup (p.Pro601_Leu602insPro) c.2549_2551dup (p.Pro850_Leu851insPro) | gnomAD v4 |
16 | g.3770894T>A | CA493394893 | CREBBP | c.2556A>T (p.Pro852=) c.2442A>T (p.Pro814=) c.1161A>T (p.Pro387=) c.2511A>T (p.Pro837=) c.2464-1541A>T (n.2464-1541A>T) c.2502A>T (p.Pro834=) c.1803A>T (p.Pro601=) c.2550A>T (p.Pro850=) | |
16 | g.3770894T>C | CA7870083 | CREBBP | c.2556A>G (p.Pro852=) c.2442A>G (p.Pro814=) c.1161A>G (p.Pro387=) c.2511A>G (p.Pro837=) c.2464-1541A>G (n.2464-1541A>G) c.2502A>G (p.Pro834=) c.1803A>G (p.Pro601=) c.2550A>G (p.Pro850=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770894T>G | CA493394892 | CREBBP | c.2556A>C (p.Pro852=) c.2442A>C (p.Pro814=) c.1161A>C (p.Pro387=) c.2511A>C (p.Pro837=) c.2464-1541A>C (n.2464-1541A>C) c.2502A>C (p.Pro834=) c.1803A>C (p.Pro601=) c.2550A>C (p.Pro850=) | gnomAD v4 |
16 | g.3770894T= | CA2202950993 | CREBBP | c.2556A= (p.Pro852=) c.2442A= (p.Pro814=) c.1161A= (p.Pro387=) c.2511A= (p.Pro837=) c.2464-1541A= (n.2464-1541A=) c.2502A= (p.Pro834=) c.1803A= (p.Pro601=) c.2550A= (p.Pro850=) | |
16 | g.3770895G>A | CA394551683 | CREBBP | c.2555C>T (p.Pro852Leu) c.2441C>T (p.Pro814Leu) c.1160C>T (p.Pro387Leu) c.2510C>T (p.Pro837Leu) c.2464-1542C>T (n.2464-1542C>T) c.2501C>T (p.Pro834Leu) c.1802C>T (p.Pro601Leu) c.2549C>T (p.Pro850Leu) | dbSNP gnomAD v4 |
16 | g.3770895G>C | CA394551685 | CREBBP | c.2555C>G (p.Pro852Arg) c.2441C>G (p.Pro814Arg) c.1160C>G (p.Pro387Arg) c.2510C>G (p.Pro837Arg) c.2464-1542C>G (n.2464-1542C>G) c.2501C>G (p.Pro834Arg) c.1802C>G (p.Pro601Arg) c.2549C>G (p.Pro850Arg) | dbSNP |
16 | g.3770895G>T | CA394551687 | CREBBP | c.2555C>A (p.Pro852Gln) c.2441C>A (p.Pro814Gln) c.1160C>A (p.Pro387Gln) c.2510C>A (p.Pro837Gln) c.2464-1542C>A (n.2464-1542C>A) c.2501C>A (p.Pro834Gln) c.1802C>A (p.Pro601Gln) c.2549C>A (p.Pro850Gln) | |
16 | g.3770896G>A | CA394551688 | CREBBP | c.2554C>T (p.Pro852Ser) c.2440C>T (p.Pro814Ser) c.1159C>T (p.Pro387Ser) c.2509C>T (p.Pro837Ser) c.2464-1543C>T (n.2464-1543C>T) c.2500C>T (p.Pro834Ser) c.1801C>T (p.Pro601Ser) c.2548C>T (p.Pro850Ser) | dbSNP |
16 | g.3770896G>C | CA7870084 | CREBBP | c.2554C>G (p.Pro852Ala) c.2440C>G (p.Pro814Ala) c.1159C>G (p.Pro387Ala) c.2509C>G (p.Pro837Ala) c.2464-1543C>G (n.2464-1543C>G) c.2500C>G (p.Pro834Ala) c.1801C>G (p.Pro601Ala) c.2548C>G (p.Pro850Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770896G= | CA2202950996 | CREBBP | c.2554C= (p.Pro852=) c.2440C= (p.Pro814=) c.1159C= (p.Pro387=) c.2509C= (p.Pro837=) c.2464-1543C= (n.2464-1543C=) c.2500C= (p.Pro834=) c.1801C= (p.Pro601=) c.2548C= (p.Pro850=) | |
16 | g.3770896G>T | CA394551691 | CREBBP | c.2554C>A (p.Pro852Thr) c.2440C>A (p.Pro814Thr) c.1159C>A (p.Pro387Thr) c.2509C>A (p.Pro837Thr) c.2464-1543C>A (n.2464-1543C>A) c.2500C>A (p.Pro834Thr) c.1801C>A (p.Pro601Thr) c.2548C>A (p.Pro850Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3770897T>A | CA493394895 | CREBBP | c.2553A>T (p.Ser851=) c.2439A>T (p.Ser813=) c.1158A>T (p.Ser386=) c.2508A>T (p.Ser836=) c.2464-1544A>T (n.2464-1544A>T) c.2499A>T (p.Ser833=) c.1800A>T (p.Ser600=) c.2547A>T (p.Ser849=) | dbSNP |
16 | g.3770897T>C | CA493394897 | CREBBP | c.2553A>G (p.Ser851=) c.2439A>G (p.Ser813=) c.1158A>G (p.Ser386=) c.2508A>G (p.Ser836=) c.2464-1544A>G (n.2464-1544A>G) c.2499A>G (p.Ser833=) c.1800A>G (p.Ser600=) c.2547A>G (p.Ser849=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3770897T>G | CA493394896 | CREBBP | c.2553A>C (p.Ser851=) c.2439A>C (p.Ser813=) c.1158A>C (p.Ser386=) c.2508A>C (p.Ser836=) c.2464-1544A>C (n.2464-1544A>C) c.2499A>C (p.Ser833=) c.1800A>C (p.Ser600=) c.2547A>C (p.Ser849=) | dbSNP |
16 | g.3770897T= | CA2202950999 | CREBBP | c.2553A= (p.Ser851=) c.2439A= (p.Ser813=) c.1158A= (p.Ser386=) c.2508A= (p.Ser836=) c.2464-1544A= (n.2464-1544A=) c.2499A= (p.Ser833=) c.1800A= (p.Ser600=) c.2547A= (p.Ser849=) | |
16 | g.3770898G>A | CA394551693 | CREBBP | c.2552C>T (p.Ser851Leu) c.2438C>T (p.Ser813Leu) c.1157C>T (p.Ser386Leu) c.2507C>T (p.Ser836Leu) c.2464-1545C>T (n.2464-1545C>T) c.2498C>T (p.Ser833Leu) c.1799C>T (p.Ser600Leu) c.2546C>T (p.Ser849Leu) | dbSNP |
16 | g.3770898G>C | CA394551694 | CREBBP | c.2552C>G (p.Ser851Ter) c.2438C>G (p.Ser813Ter) c.1157C>G (p.Ser386Ter) c.2507C>G (p.Ser836Ter) c.2464-1545C>G (n.2464-1545C>G) c.2498C>G (p.Ser833Ter) c.1799C>G (p.Ser600Ter) c.2546C>G (p.Ser849Ter) | dbSNP |
16 | g.3770898G>T | CA394551695 | CREBBP | c.2552C>A (p.Ser851Ter) c.2438C>A (p.Ser813Ter) c.1157C>A (p.Ser386Ter) c.2507C>A (p.Ser836Ter) c.2464-1545C>A (n.2464-1545C>A) c.2498C>A (p.Ser833Ter) c.1799C>A (p.Ser600Ter) c.2546C>A (p.Ser849Ter) | dbSNP gnomAD v4 |
16 | g.3770899A>C | CA394551699 | CREBBP | c.2551T>G (p.Ser851Ala) c.2437T>G (p.Ser813Ala) c.1156T>G (p.Ser386Ala) c.2506T>G (p.Ser836Ala) c.2464-1546T>G (n.2464-1546T>G) c.2497T>G (p.Ser833Ala) c.1798T>G (p.Ser600Ala) c.2545T>G (p.Ser849Ala) | dbSNP |
16 | g.3770899A>G | CA394551701 | CREBBP | c.2551T>C (p.Ser851Pro) c.2437T>C (p.Ser813Pro) c.1156T>C (p.Ser386Pro) c.2506T>C (p.Ser836Pro) c.2464-1546T>C (n.2464-1546T>C) c.2497T>C (p.Ser833Pro) c.1798T>C (p.Ser600Pro) c.2545T>C (p.Ser849Pro) | dbSNP |
16 | g.3770899A>T | CA394551698 | CREBBP | c.2551T>A (p.Ser851Thr) c.2437T>A (p.Ser813Thr) c.1156T>A (p.Ser386Thr) c.2506T>A (p.Ser836Thr) c.2464-1546T>A (n.2464-1546T>A) c.2497T>A (p.Ser833Thr) c.1798T>A (p.Ser600Thr) c.2545T>A (p.Ser849Thr) | dbSNP |
16 | g.3770900C>A | CA394551705 | CREBBP | c.2550G>T (p.Gln850His) c.2436G>T (p.Gln812His) c.1155G>T (p.Gln385His) c.2505G>T (p.Gln835His) c.2464-1547G>T (n.2464-1547G>T) c.2496G>T (p.Gln832His) c.1797G>T (p.Gln599His) c.2544G>T (p.Gln848His) | dbSNP |
16 | g.3770900C= | CA2202951005 | CREBBP | c.2550G= (p.Gln850=) c.2436G= (p.Gln812=) c.1155G= (p.Gln385=) c.2505G= (p.Gln835=) c.2464-1547G= (n.2464-1547G=) c.2496G= (p.Gln832=) c.1797G= (p.Gln599=) c.2544G= (p.Gln848=) | |
16 | g.3770900C>G | CA7870085 | CREBBP | c.2550G>C (p.Gln850His) c.2436G>C (p.Gln812His) c.1155G>C (p.Gln385His) c.2505G>C (p.Gln835His) c.2464-1547G>C (n.2464-1547G>C) c.2496G>C (p.Gln832His) c.1797G>C (p.Gln599His) c.2544G>C (p.Gln848His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770900C>T | CA7870086 | CREBBP | c.2550G>A (p.Gln850=) c.2436G>A (p.Gln812=) c.1155G>A (p.Gln385=) c.2505G>A (p.Gln835=) c.2464-1547G>A (n.2464-1547G>A) c.2496G>A (p.Gln832=) c.1797G>A (p.Gln599=) c.2544G>A (p.Gln848=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770900_3770902delinsCTG | CA2202951003 | CREBBP | c.2548_2550delinsCAG (p.Gln850=) c.2434_2436delinsCAG (p.Gln812=) c.1153_1155delinsCAG (p.Gln385=) c.2503_2505delinsCAG (p.Gln835=) c.2464-1549_2464-1547delinsCAG (n.2464-1549_2464-1547delinsCAG) c.2494_2496delinsCAG (p.Gln832=) c.1795_1797delinsCAG (p.Gln599=) c.2542_2544delinsCAG (p.Gln848=) | |
16 | g.3770901T>A | CA394551707 | CREBBP | c.2549A>T (p.Gln850Leu) c.2435A>T (p.Gln812Leu) c.1154A>T (p.Gln385Leu) c.2504A>T (p.Gln835Leu) c.2464-1548A>T (n.2464-1548A>T) c.2495A>T (p.Gln832Leu) c.1796A>T (p.Gln599Leu) c.2543A>T (p.Gln848Leu) | dbSNP |
16 | g.3770901T>C | CA394551709 | CREBBP | c.2549A>G (p.Gln850Arg) c.2435A>G (p.Gln812Arg) c.1154A>G (p.Gln385Arg) c.2504A>G (p.Gln835Arg) c.2464-1548A>G (n.2464-1548A>G) c.2495A>G (p.Gln832Arg) c.1796A>G (p.Gln599Arg) c.2543A>G (p.Gln848Arg) | dbSNP |
16 | g.3770901T>G | CA394551711 | CREBBP | c.2549A>C (p.Gln850Pro) c.2435A>C (p.Gln812Pro) c.1154A>C (p.Gln385Pro) c.2504A>C (p.Gln835Pro) c.2464-1548A>C (n.2464-1548A>C) c.2495A>C (p.Gln832Pro) c.1796A>C (p.Gln599Pro) c.2543A>C (p.Gln848Pro) | dbSNP |
16 | g.3770901T= | CA2202951010 | CREBBP | c.2549A= (p.Gln850=) c.2435A= (p.Gln812=) c.1154A= (p.Gln385=) c.2504A= (p.Gln835=) c.2464-1548A= (n.2464-1548A=) c.2495A= (p.Gln832=) c.1796A= (p.Gln599=) c.2543A= (p.Gln848=) | |
16 | g.3770904_3770905del | CA2202951008 | CREBBP | c.2548_2549del (p.Gln850ValfsTer?) c.2434_2435del (p.Gln812ValfsTer?) c.1153_1154del (p.Gln385ValfsTer?) c.2503_2504del (p.Gln835ValfsTer?) c.2464-1549_2464-1548del (n.2464-1549_2464-1548del) c.2494_2495del (p.Gln832ValfsTer?) c.1795_1796del (p.Gln599ValfsTer?) c.2542_2543del (p.Gln848ValfsTer?) | dbSNP |
16 | g.3770902G>A | CA394551717 | CREBBP | c.2548C>T (p.Gln850Ter) c.2434C>T (p.Gln812Ter) c.1153C>T (p.Gln385Ter) c.2503C>T (p.Gln835Ter) c.2464-1549C>T (n.2464-1549C>T) c.2494C>T (p.Gln832Ter) c.1795C>T (p.Gln599Ter) c.2542C>T (p.Gln848Ter) | dbSNP COSMIC |
16 | g.3770902G>C | CA394551715 | CREBBP | c.2548C>G (p.Gln850Glu) c.2434C>G (p.Gln812Glu) c.1153C>G (p.Gln385Glu) c.2503C>G (p.Gln835Glu) c.2464-1549C>G (n.2464-1549C>G) c.2494C>G (p.Gln832Glu) c.1795C>G (p.Gln599Glu) c.2542C>G (p.Gln848Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770902G= | CA2202951013 | CREBBP | c.2548C= (p.Gln850=) c.2434C= (p.Gln812=) c.1153C= (p.Gln385=) c.2503C= (p.Gln835=) c.2464-1549C= (n.2464-1549C=) c.2494C= (p.Gln832=) c.1795C= (p.Gln599=) c.2542C= (p.Gln848=) | |
16 | g.3770902G>T | CA394551713 | CREBBP | c.2548C>A (p.Gln850Lys) c.2434C>A (p.Gln812Lys) c.1153C>A (p.Gln385Lys) c.2503C>A (p.Gln835Lys) c.2464-1549C>A (n.2464-1549C>A) c.2494C>A (p.Gln832Lys) c.1795C>A (p.Gln599Lys) c.2542C>A (p.Gln848Lys) | |
16 | g.3770903T>A | CA493394902 | CREBBP | c.2547A>T (p.Thr849=) c.2433A>T (p.Thr811=) c.1152A>T (p.Thr384=) c.2502A>T (p.Thr834=) c.2464-1550A>T (n.2464-1550A>T) c.2493A>T (p.Thr831=) c.1794A>T (p.Thr598=) c.2541A>T (p.Thr847=) | dbSNP |
16 | g.3770903T>C | CA493394904 | CREBBP | c.2547A>G (p.Thr849=) c.2433A>G (p.Thr811=) c.1152A>G (p.Thr384=) c.2502A>G (p.Thr834=) c.2464-1550A>G (n.2464-1550A>G) c.2493A>G (p.Thr831=) c.1794A>G (p.Thr598=) c.2541A>G (p.Thr847=) | dbSNP |
16 | g.3770903T>G | CA493394906 | CREBBP | c.2547A>C (p.Thr849=) c.2433A>C (p.Thr811=) c.1152A>C (p.Thr384=) c.2502A>C (p.Thr834=) c.2464-1550A>C (n.2464-1550A>C) c.2493A>C (p.Thr831=) c.1794A>C (p.Thr598=) c.2541A>C (p.Thr847=) | dbSNP |
16 | g.3770903T= | CA2202951015 | CREBBP | c.2547A= (p.Thr849=) c.2433A= (p.Thr811=) c.1152A= (p.Thr384=) c.2502A= (p.Thr834=) c.2464-1550A= (n.2464-1550A=) c.2493A= (p.Thr831=) c.1794A= (p.Thr598=) c.2541A= (p.Thr847=) | |
16 | g.3770904G>A | CA394551719 | CREBBP | c.2546C>T (p.Thr849Ile) c.2432C>T (p.Thr811Ile) c.1151C>T (p.Thr384Ile) c.2501C>T (p.Thr834Ile) c.2464-1551C>T (n.2464-1551C>T) c.2492C>T (p.Thr831Ile) c.1793C>T (p.Thr598Ile) c.2540C>T (p.Thr847Ile) | |
16 | g.3770904G>C | CA394551721 | CREBBP | c.2546C>G (p.Thr849Arg) c.2432C>G (p.Thr811Arg) c.1151C>G (p.Thr384Arg) c.2501C>G (p.Thr834Arg) c.2464-1551C>G (n.2464-1551C>G) c.2492C>G (p.Thr831Arg) c.1793C>G (p.Thr598Arg) c.2540C>G (p.Thr847Arg) | |
16 | g.3770904G>T | CA394551723 | CREBBP | c.2546C>A (p.Thr849Lys) c.2432C>A (p.Thr811Lys) c.1151C>A (p.Thr384Lys) c.2501C>A (p.Thr834Lys) c.2464-1551C>A (n.2464-1551C>A) c.2492C>A (p.Thr831Lys) c.1793C>A (p.Thr598Lys) c.2540C>A (p.Thr847Lys) | |
16 | g.3770905T>A | CA394551725 | CREBBP | c.2545A>T (p.Thr849Ser) c.2431A>T (p.Thr811Ser) c.1150A>T (p.Thr384Ser) c.2500A>T (p.Thr834Ser) c.2464-1552A>T (n.2464-1552A>T) c.2491A>T (p.Thr831Ser) c.1792A>T (p.Thr598Ser) c.2539A>T (p.Thr847Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770905T>C | CA394551727 | CREBBP | c.2545A>G (p.Thr849Ala) c.2431A>G (p.Thr811Ala) c.1150A>G (p.Thr384Ala) c.2500A>G (p.Thr834Ala) c.2464-1552A>G (n.2464-1552A>G) c.2491A>G (p.Thr831Ala) c.1792A>G (p.Thr598Ala) c.2539A>G (p.Thr847Ala) | dbSNP |
16 | g.3770905T>G | CA394551729 | CREBBP | c.2545A>C (p.Thr849Pro) c.2431A>C (p.Thr811Pro) c.1150A>C (p.Thr384Pro) c.2500A>C (p.Thr834Pro) c.2464-1552A>C (n.2464-1552A>C) c.2491A>C (p.Thr831Pro) c.1792A>C (p.Thr598Pro) c.2539A>C (p.Thr847Pro) | dbSNP |
16 | g.3770905T= | CA2202951018 | CREBBP | c.2545A= (p.Thr849=) c.2431A= (p.Thr811=) c.1150A= (p.Thr384=) c.2500A= (p.Thr834=) c.2464-1552A= (n.2464-1552A=) c.2491A= (p.Thr831=) c.1792A= (p.Thr598=) c.2539A= (p.Thr847=) | |
16 | g.3770906C>A | CA493394907 | CREBBP | c.2544G>T (p.Val848=) c.2430G>T (p.Val810=) c.1149G>T (p.Val383=) c.2499G>T (p.Val833=) c.2464-1553G>T (n.2464-1553G>T) c.2490G>T (p.Val830=) c.1791G>T (p.Val597=) c.2538G>T (p.Val846=) | |
16 | g.3770906C>G | CA493394908 | CREBBP | c.2544G>C (p.Val848=) c.2430G>C (p.Val810=) c.1149G>C (p.Val383=) c.2499G>C (p.Val833=) c.2464-1553G>C (n.2464-1553G>C) c.2490G>C (p.Val830=) c.1791G>C (p.Val597=) c.2538G>C (p.Val846=) | |
16 | g.3770906C>T | CA493394909 | CREBBP | c.2544G>A (p.Val848=) c.2430G>A (p.Val810=) c.1149G>A (p.Val383=) c.2499G>A (p.Val833=) c.2464-1553G>A (n.2464-1553G>A) c.2490G>A (p.Val830=) c.1791G>A (p.Val597=) c.2538G>A (p.Val846=) | |
16 | g.3770907A>C | CA394551735 | CREBBP | c.2543T>G (p.Val848Gly) c.2429T>G (p.Val810Gly) c.1148T>G (p.Val383Gly) c.2498T>G (p.Val833Gly) c.2464-1554T>G (n.2464-1554T>G) c.2489T>G (p.Val830Gly) c.1790T>G (p.Val597Gly) c.2537T>G (p.Val846Gly) | dbSNP |
16 | g.3770907A>G | CA394551731 | CREBBP | c.2543T>C (p.Val848Ala) c.2429T>C (p.Val810Ala) c.1148T>C (p.Val383Ala) c.2498T>C (p.Val833Ala) c.2464-1554T>C (n.2464-1554T>C) c.2489T>C (p.Val830Ala) c.1790T>C (p.Val597Ala) c.2537T>C (p.Val846Ala) | dbSNP |
16 | g.3770907A>T | CA394551733 | CREBBP | c.2543T>A (p.Val848Glu) c.2429T>A (p.Val810Glu) c.1148T>A (p.Val383Glu) c.2498T>A (p.Val833Glu) c.2464-1554T>A (n.2464-1554T>A) c.2489T>A (p.Val830Glu) c.1790T>A (p.Val597Glu) c.2537T>A (p.Val846Glu) | dbSNP |
16 | g.3770908C>A | CA394551737 | CREBBP | c.2542G>T (p.Val848Leu) c.2428G>T (p.Val810Leu) c.1147G>T (p.Val383Leu) c.2497G>T (p.Val833Leu) c.2464-1555G>T (n.2464-1555G>T) c.2488G>T (p.Val830Leu) c.1789G>T (p.Val597Leu) c.2536G>T (p.Val846Leu) | dbSNP |
16 | g.3770908C= | CA2202951020 | CREBBP | c.2542G= (p.Val848=) c.2428G= (p.Val810=) c.1147G= (p.Val383=) c.2497G= (p.Val833=) c.2464-1555G= (n.2464-1555G=) c.2488G= (p.Val830=) c.1789G= (p.Val597=) c.2536G= (p.Val846=) | |
16 | g.3770908C>G | CA394551739 | CREBBP | c.2542G>C (p.Val848Leu) c.2428G>C (p.Val810Leu) c.1147G>C (p.Val383Leu) c.2497G>C (p.Val833Leu) c.2464-1555G>C (n.2464-1555G>C) c.2488G>C (p.Val830Leu) c.1789G>C (p.Val597Leu) c.2536G>C (p.Val846Leu) | dbSNP |
16 | g.3770908C>T | CA394551741 | CREBBP | c.2542G>A (p.Val848Met) c.2428G>A (p.Val810Met) c.1147G>A (p.Val383Met) c.2497G>A (p.Val833Met) c.2464-1555G>A (n.2464-1555G>A) c.2488G>A (p.Val830Met) c.1789G>A (p.Val597Met) c.2536G>A (p.Val846Met) | dbSNP |
16 | g.3770909T>A | CA7870087 | CREBBP | c.2541A>T (p.Pro847=) c.2427A>T (p.Pro809=) c.1146A>T (p.Pro382=) c.2496A>T (p.Pro832=) c.2464-1556A>T (n.2464-1556A>T) c.2487A>T (p.Pro829=) c.1788A>T (p.Pro596=) c.2535A>T (p.Pro845=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770909T>C | CA493394911 | CREBBP | c.2541A>G (p.Pro847=) c.2427A>G (p.Pro809=) c.1146A>G (p.Pro382=) c.2496A>G (p.Pro832=) c.2464-1556A>G (n.2464-1556A>G) c.2487A>G (p.Pro829=) c.1788A>G (p.Pro596=) c.2535A>G (p.Pro845=) | gnomAD v4 |
16 | g.3770909T>G | CA493394912 | CREBBP | c.2541A>C (p.Pro847=) c.2427A>C (p.Pro809=) c.1146A>C (p.Pro382=) c.2496A>C (p.Pro832=) c.2464-1556A>C (n.2464-1556A>C) c.2487A>C (p.Pro829=) c.1788A>C (p.Pro596=) c.2535A>C (p.Pro845=) | |
16 | g.3770909T= | CA2202951022 | CREBBP | c.2541A= (p.Pro847=) c.2427A= (p.Pro809=) c.1146A= (p.Pro382=) c.2496A= (p.Pro832=) c.2464-1556A= (n.2464-1556A=) c.2487A= (p.Pro829=) c.1788A= (p.Pro596=) c.2535A= (p.Pro845=) | |
16 | g.3770910G>A | CA394551743 | CREBBP | c.2540C>T (p.Pro847Leu) c.2426C>T (p.Pro809Leu) c.1145C>T (p.Pro382Leu) c.2495C>T (p.Pro832Leu) c.2464-1557C>T (n.2464-1557C>T) c.2486C>T (p.Pro829Leu) c.1787C>T (p.Pro596Leu) c.2534C>T (p.Pro845Leu) | dbSNP |
16 | g.3770910G>C | CA394551745 | CREBBP | c.2540C>G (p.Pro847Arg) c.2426C>G (p.Pro809Arg) c.1145C>G (p.Pro382Arg) c.2495C>G (p.Pro832Arg) c.2464-1557C>G (n.2464-1557C>G) c.2486C>G (p.Pro829Arg) c.1787C>G (p.Pro596Arg) c.2534C>G (p.Pro845Arg) | dbSNP gnomAD v4 |
16 | g.3770910G>T | CA394551747 | CREBBP | c.2540C>A (p.Pro847Gln) c.2426C>A (p.Pro809Gln) c.1145C>A (p.Pro382Gln) c.2495C>A (p.Pro832Gln) c.2464-1557C>A (n.2464-1557C>A) c.2486C>A (p.Pro829Gln) c.1787C>A (p.Pro596Gln) c.2534C>A (p.Pro845Gln) | dbSNP |
16 | g.3770911G>A | CA394551748 | CREBBP | c.2539C>T (p.Pro847Ser) c.2425C>T (p.Pro809Ser) c.1144C>T (p.Pro382Ser) c.2494C>T (p.Pro832Ser) c.2464-1558C>T (n.2464-1558C>T) c.2485C>T (p.Pro829Ser) c.1786C>T (p.Pro596Ser) c.2533C>T (p.Pro845Ser) | dbSNP |
16 | g.3770911G>C | CA394551750 | CREBBP | c.2539C>G (p.Pro847Ala) c.2425C>G (p.Pro809Ala) c.1144C>G (p.Pro382Ala) c.2494C>G (p.Pro832Ala) c.2464-1558C>G (n.2464-1558C>G) c.2485C>G (p.Pro829Ala) c.1786C>G (p.Pro596Ala) c.2533C>G (p.Pro845Ala) | dbSNP gnomAD v4 |
16 | g.3770911G= | CA2202951027 | CREBBP | c.2539C= (p.Pro847=) c.2425C= (p.Pro809=) c.1144C= (p.Pro382=) c.2494C= (p.Pro832=) c.2464-1558C= (n.2464-1558C=) c.2485C= (p.Pro829=) c.1786C= (p.Pro596=) c.2533C= (p.Pro845=) | |
16 | g.3770911G>T | CA158168 | CREBBP | c.2539C>A (p.Pro847Thr) c.2425C>A (p.Pro809Thr) c.1144C>A (p.Pro382Thr) c.2494C>A (p.Pro832Thr) c.2464-1558C>A (n.2464-1558C>A) c.2485C>A (p.Pro829Thr) c.1786C>A (p.Pro596Thr) c.2533C>A (p.Pro845Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770912A>C | CA493394913 | CREBBP | c.2538T>G (p.Pro846=) c.2424T>G (p.Pro808=) c.1143T>G (p.Pro381=) c.2493T>G (p.Pro831=) c.2464-1559T>G (n.2464-1559T>G) c.2484T>G (p.Pro828=) c.1785T>G (p.Pro595=) c.2532T>G (p.Pro844=) | |
16 | g.3770912A>G | CA493394917 | CREBBP | c.2538T>C (p.Pro846=) c.2424T>C (p.Pro808=) c.1143T>C (p.Pro381=) c.2493T>C (p.Pro831=) c.2464-1559T>C (n.2464-1559T>C) c.2484T>C (p.Pro828=) c.1785T>C (p.Pro595=) c.2532T>C (p.Pro844=) | |
16 | g.3770912A>T | CA493394915 | CREBBP | c.2538T>A (p.Pro846=) c.2424T>A (p.Pro808=) c.1143T>A (p.Pro381=) c.2493T>A (p.Pro831=) c.2464-1559T>A (n.2464-1559T>A) c.2484T>A (p.Pro828=) c.1785T>A (p.Pro595=) c.2532T>A (p.Pro844=) | dbSNP |
16 | g.3770913G>A | CA7870089 | CREBBP | c.2537C>T (p.Pro846Leu) c.2423C>T (p.Pro808Leu) c.1142C>T (p.Pro381Leu) c.2492C>T (p.Pro831Leu) c.2464-1560C>T (n.2464-1560C>T) c.2483C>T (p.Pro828Leu) c.1784C>T (p.Pro595Leu) c.2531C>T (p.Pro844Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770913G>C | CA7870088 | CREBBP | c.2537C>G (p.Pro846Arg) c.2423C>G (p.Pro808Arg) c.1142C>G (p.Pro381Arg) c.2492C>G (p.Pro831Arg) c.2464-1560C>G (n.2464-1560C>G) c.2483C>G (p.Pro828Arg) c.1784C>G (p.Pro595Arg) c.2531C>G (p.Pro844Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770913G= | CA2202951032 | CREBBP | c.2537C= (p.Pro846=) c.2423C= (p.Pro808=) c.1142C= (p.Pro381=) c.2492C= (p.Pro831=) c.2464-1560C= (n.2464-1560C=) c.2483C= (p.Pro828=) c.1784C= (p.Pro595=) c.2531C= (p.Pro844=) | |
16 | g.3770913G>T | CA394551755 | CREBBP | c.2537C>A (p.Pro846His) c.2423C>A (p.Pro808His) c.1142C>A (p.Pro381His) c.2492C>A (p.Pro831His) c.2464-1560C>A (n.2464-1560C>A) c.2483C>A (p.Pro828His) c.1784C>A (p.Pro595His) c.2531C>A (p.Pro844His) | dbSNP |
16 | g.3770914G>A | CA394551757 | CREBBP | c.2536C>T (p.Pro846Ser) c.2422C>T (p.Pro808Ser) c.1141C>T (p.Pro381Ser) c.2491C>T (p.Pro831Ser) c.2464-1561C>T (n.2464-1561C>T) c.2482C>T (p.Pro828Ser) c.1783C>T (p.Pro595Ser) c.2530C>T (p.Pro844Ser) | |
16 | g.3770914G>C | CA394551761 | CREBBP | c.2536C>G (p.Pro846Ala) c.2422C>G (p.Pro808Ala) c.1141C>G (p.Pro381Ala) c.2491C>G (p.Pro831Ala) c.2464-1561C>G (n.2464-1561C>G) c.2482C>G (p.Pro828Ala) c.1783C>G (p.Pro595Ala) c.2530C>G (p.Pro844Ala) | |
16 | g.3770914G>T | CA394551759 | CREBBP | c.2536C>A (p.Pro846Thr) c.2422C>A (p.Pro808Thr) c.1141C>A (p.Pro381Thr) c.2491C>A (p.Pro831Thr) c.2464-1561C>A (n.2464-1561C>A) c.2482C>A (p.Pro828Thr) c.1783C>A (p.Pro595Thr) c.2530C>A (p.Pro844Thr) | |
16 | g.3770915G>A | CA493394919 | CREBBP | c.2535C>T (p.Cys845=) c.2421C>T (p.Cys807=) c.1140C>T (p.Cys380=) c.2490C>T (p.Cys830=) c.2464-1562C>T (n.2464-1562C>T) c.2481C>T (p.Cys827=) c.1782C>T (p.Cys594=) c.2529C>T (p.Cys843=) | dbSNP |
16 | g.3770915G>C | CA394551763 | CREBBP | c.2535C>G (p.Cys845Trp) c.2421C>G (p.Cys807Trp) c.1140C>G (p.Cys380Trp) c.2490C>G (p.Cys830Trp) c.2464-1562C>G (n.2464-1562C>G) c.2481C>G (p.Cys827Trp) c.1782C>G (p.Cys594Trp) c.2529C>G (p.Cys843Trp) | dbSNP |
16 | g.3770915G= | CA2202951036 | CREBBP | c.2535C= (p.Cys845=) c.2421C= (p.Cys807=) c.1140C= (p.Cys380=) c.2490C= (p.Cys830=) c.2464-1562C= (n.2464-1562C=) c.2481C= (p.Cys827=) c.1782C= (p.Cys594=) c.2529C= (p.Cys843=) | |
16 | g.3770915G>T | CA271372 | CREBBP | c.2535C>A (p.Cys845Ter) c.2421C>A (p.Cys807Ter) c.1140C>A (p.Cys380Ter) c.2490C>A (p.Cys830Ter) c.2464-1562C>A (n.2464-1562C>A) c.2481C>A (p.Cys827Ter) c.1782C>A (p.Cys594Ter) c.2529C>A (p.Cys843Ter) | ClinVar dbSNP |
16 | g.3770916C>A | CA394551766 | CREBBP | c.2534G>T (p.Cys845Phe) c.2420G>T (p.Cys807Phe) c.1139G>T (p.Cys380Phe) c.2489G>T (p.Cys830Phe) c.2464-1563G>T (n.2464-1563G>T) c.2480G>T (p.Cys827Phe) c.1781G>T (p.Cys594Phe) c.2528G>T (p.Cys843Phe) | dbSNP |
16 | g.3770916C>G | CA394551767 | CREBBP | c.2534G>C (p.Cys845Ser) c.2420G>C (p.Cys807Ser) c.1139G>C (p.Cys380Ser) c.2489G>C (p.Cys830Ser) c.2464-1563G>C (n.2464-1563G>C) c.2480G>C (p.Cys827Ser) c.1781G>C (p.Cys594Ser) c.2528G>C (p.Cys843Ser) | dbSNP |
16 | g.3770916C>T | CA394551768 | CREBBP | c.2534G>A (p.Cys845Tyr) c.2420G>A (p.Cys807Tyr) c.1139G>A (p.Cys380Tyr) c.2489G>A (p.Cys830Tyr) c.2464-1563G>A (n.2464-1563G>A) c.2480G>A (p.Cys827Tyr) c.1781G>A (p.Cys594Tyr) c.2528G>A (p.Cys843Tyr) | dbSNP |
16 | g.3770917A>C | CA394551772 | CREBBP | c.2533T>G (p.Cys845Gly) c.2419T>G (p.Cys807Gly) c.1138T>G (p.Cys380Gly) c.2488T>G (p.Cys830Gly) c.2464-1564T>G (n.2464-1564T>G) c.2479T>G (p.Cys827Gly) c.1780T>G (p.Cys594Gly) c.2527T>G (p.Cys843Gly) | dbSNP |
16 | g.3770917A>G | CA394551771 | CREBBP | c.2533T>C (p.Cys845Arg) c.2419T>C (p.Cys807Arg) c.1138T>C (p.Cys380Arg) c.2488T>C (p.Cys830Arg) c.2464-1564T>C (n.2464-1564T>C) c.2479T>C (p.Cys827Arg) c.1780T>C (p.Cys594Arg) c.2527T>C (p.Cys843Arg) | dbSNP |
16 | g.3770917A>T | CA394551770 | CREBBP | c.2533T>A (p.Cys845Ser) c.2419T>A (p.Cys807Ser) c.1138T>A (p.Cys380Ser) c.2488T>A (p.Cys830Ser) c.2464-1564T>A (n.2464-1564T>A) c.2479T>A (p.Cys827Ser) c.1780T>A (p.Cys594Ser) c.2527T>A (p.Cys843Ser) | |
16 | g.3770918A>C | CA493394923 | CREBBP | c.2532T>G (p.Pro844=) c.2418T>G (p.Pro806=) c.1137T>G (p.Pro379=) c.2487T>G (p.Pro829=) c.2464-1565T>G (n.2464-1565T>G) c.2478T>G (p.Pro826=) c.1779T>G (p.Pro593=) c.2526T>G (p.Pro842=) | dbSNP |
16 | g.3770918A>G | CA493394924 | CREBBP | c.2532T>C (p.Pro844=) c.2418T>C (p.Pro806=) c.1137T>C (p.Pro379=) c.2487T>C (p.Pro829=) c.2464-1565T>C (n.2464-1565T>C) c.2478T>C (p.Pro826=) c.1779T>C (p.Pro593=) c.2526T>C (p.Pro842=) | dbSNP |
16 | g.3770918A>T | CA493394925 | CREBBP | c.2532T>A (p.Pro844=) c.2418T>A (p.Pro806=) c.1137T>A (p.Pro379=) c.2487T>A (p.Pro829=) c.2464-1565T>A (n.2464-1565T>A) c.2478T>A (p.Pro826=) c.1779T>A (p.Pro593=) c.2526T>A (p.Pro842=) | dbSNP |
16 | g.3770919G>A | CA394551774 | CREBBP | c.2531C>T (p.Pro844Leu) c.2417C>T (p.Pro806Leu) c.1136C>T (p.Pro379Leu) c.2486C>T (p.Pro829Leu) c.2464-1566C>T (n.2464-1566C>T) c.2477C>T (p.Pro826Leu) c.1778C>T (p.Pro593Leu) c.2525C>T (p.Pro842Leu) | dbSNP |
16 | g.3770919G>C | CA394551776 | CREBBP | c.2531C>G (p.Pro844Arg) c.2417C>G (p.Pro806Arg) c.1136C>G (p.Pro379Arg) c.2486C>G (p.Pro829Arg) c.2464-1566C>G (n.2464-1566C>G) c.2477C>G (p.Pro826Arg) c.1778C>G (p.Pro593Arg) c.2525C>G (p.Pro842Arg) | dbSNP gnomAD v4 |
16 | g.3770919G>T | CA394551777 | CREBBP | c.2531C>A (p.Pro844His) c.2417C>A (p.Pro806His) c.1136C>A (p.Pro379His) c.2486C>A (p.Pro829His) c.2464-1566C>A (n.2464-1566C>A) c.2477C>A (p.Pro826His) c.1778C>A (p.Pro593His) c.2525C>A (p.Pro842His) | dbSNP |
16 | g.3770920G>A | CA394551779 | CREBBP | c.2530C>T (p.Pro844Ser) c.2416C>T (p.Pro806Ser) c.1135C>T (p.Pro379Ser) c.2485C>T (p.Pro829Ser) c.2464-1567C>T (n.2464-1567C>T) c.2476C>T (p.Pro826Ser) c.1777C>T (p.Pro593Ser) c.2524C>T (p.Pro842Ser) | ClinVar dbSNP |
16 | g.3770920G>C | CA394551781 | CREBBP | c.2530C>G (p.Pro844Ala) c.2416C>G (p.Pro806Ala) c.1135C>G (p.Pro379Ala) c.2485C>G (p.Pro829Ala) c.2464-1567C>G (n.2464-1567C>G) c.2476C>G (p.Pro826Ala) c.1777C>G (p.Pro593Ala) c.2524C>G (p.Pro842Ala) | dbSNP |
16 | g.3770920G= | CA2202951044 | CREBBP | c.2530C= (p.Pro844=) c.2416C= (p.Pro806=) c.1135C= (p.Pro379=) c.2485C= (p.Pro829=) c.2464-1567C= (n.2464-1567C=) c.2476C= (p.Pro826=) c.1777C= (p.Pro593=) c.2524C= (p.Pro842=) | |
16 | g.3770920G>T | CA394551783 | CREBBP | c.2530C>A (p.Pro844Thr) c.2416C>A (p.Pro806Thr) c.1135C>A (p.Pro379Thr) c.2485C>A (p.Pro829Thr) c.2464-1567C>A (n.2464-1567C>A) c.2476C>A (p.Pro826Thr) c.1777C>A (p.Pro593Thr) c.2524C>A (p.Pro842Thr) | |
16 | g.3770921T>A | CA493394926 | CREBBP | c.2529A>T (p.Leu843=) c.2415A>T (p.Leu805=) c.1134A>T (p.Leu378=) c.2484A>T (p.Leu828=) c.2464-1568A>T (n.2464-1568A>T) c.2475A>T (p.Leu825=) c.1776A>T (p.Leu592=) c.2523A>T (p.Leu841=) | dbSNP |
16 | g.3770921T>C | CA493394928 | CREBBP | c.2529A>G (p.Leu843=) c.2415A>G (p.Leu805=) c.1134A>G (p.Leu378=) c.2484A>G (p.Leu828=) c.2464-1568A>G (n.2464-1568A>G) c.2475A>G (p.Leu825=) c.1776A>G (p.Leu592=) c.2523A>G (p.Leu841=) | dbSNP |
16 | g.3770921T>G | CA493394930 | CREBBP | c.2529A>C (p.Leu843=) c.2415A>C (p.Leu805=) c.1134A>C (p.Leu378=) c.2484A>C (p.Leu828=) c.2464-1568A>C (n.2464-1568A>C) c.2475A>C (p.Leu825=) c.1776A>C (p.Leu592=) c.2523A>C (p.Leu841=) | dbSNP gnomAD v4 |
16 | g.3770921T= | CA2202951047 | CREBBP | c.2529A= (p.Leu843=) c.2415A= (p.Leu805=) c.1134A= (p.Leu378=) c.2484A= (p.Leu828=) c.2464-1568A= (n.2464-1568A=) c.2475A= (p.Leu825=) c.1776A= (p.Leu592=) c.2523A= (p.Leu841=) | |
16 | g.3770922_3770925dup | CA2580091136 | CREBBP | c.2526_2529dup (p.Pro844AlafsTer?) c.2412_2415dup (p.Pro806AlafsTer?) c.1131_1134dup (p.Pro379AlafsTer?) c.2481_2484dup (p.Pro829AlafsTer?) c.2464-1571_2464-1568dup (n.2464-1571_2464-1568dup) c.2472_2475dup (p.Pro826AlafsTer?) c.1773_1776dup (p.Pro593AlafsTer?) c.2520_2523dup (p.Pro842AlafsTer?) | ClinVar |
16 | g.3770922A>C | CA394551785 | CREBBP | c.2528T>G (p.Leu843Arg) c.2414T>G (p.Leu805Arg) c.1133T>G (p.Leu378Arg) c.2483T>G (p.Leu828Arg) c.2464-1569T>G (n.2464-1569T>G) c.2474T>G (p.Leu825Arg) c.1775T>G (p.Leu592Arg) c.2522T>G (p.Leu841Arg) | |
16 | g.3770922A>G | CA394551789 | CREBBP | c.2528T>C (p.Leu843Pro) c.2414T>C (p.Leu805Pro) c.1133T>C (p.Leu378Pro) c.2483T>C (p.Leu828Pro) c.2464-1569T>C (n.2464-1569T>C) c.2474T>C (p.Leu825Pro) c.1775T>C (p.Leu592Pro) c.2522T>C (p.Leu841Pro) | ClinVar |
16 | g.3770922A>T | CA394551787 | CREBBP | c.2528T>A (p.Leu843Gln) c.2414T>A (p.Leu805Gln) c.1133T>A (p.Leu378Gln) c.2483T>A (p.Leu828Gln) c.2464-1569T>A (n.2464-1569T>A) c.2474T>A (p.Leu825Gln) c.1775T>A (p.Leu592Gln) c.2522T>A (p.Leu841Gln) | COSMIC |
16 | g.3770923del | CA2695222752 | CREBBP | c.2527del (p.Leu843TyrfsTer6) c.2413del (p.Leu805TyrfsTer6) c.1132del (p.Leu378TyrfsTer6) c.2482del (p.Leu828TyrfsTer6) c.2464-1570del (n.2464-1570del) c.2473del (p.Leu825TyrfsTer6) c.1774del (p.Leu592TyrfsTer6) c.2521del (p.Leu841TyrfsTer6) | |
16 | g.3770923G>A | CA493394932 | CREBBP | c.2527C>T (p.Leu843=) c.2413C>T (p.Leu805=) c.1132C>T (p.Leu378=) c.2482C>T (p.Leu828=) c.2464-1570C>T (n.2464-1570C>T) c.2473C>T (p.Leu825=) c.1774C>T (p.Leu592=) c.2521C>T (p.Leu841=) | dbSNP |
16 | g.3770923G>C | CA7870090 | CREBBP | c.2527C>G (p.Leu843Val) c.2413C>G (p.Leu805Val) c.1132C>G (p.Leu378Val) c.2482C>G (p.Leu828Val) c.2464-1570C>G (n.2464-1570C>G) c.2473C>G (p.Leu825Val) c.1774C>G (p.Leu592Val) c.2521C>G (p.Leu841Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770923G= | CA2202951049 | CREBBP | c.2527C= (p.Leu843=) c.2413C= (p.Leu805=) c.1132C= (p.Leu378=) c.2482C= (p.Leu828=) c.2464-1570C= (n.2464-1570C=) c.2473C= (p.Leu825=) c.1774C= (p.Leu592=) c.2521C= (p.Leu841=) | |
16 | g.3770923G>T | CA394551792 | CREBBP | c.2527C>A (p.Leu843Ile) c.2413C>A (p.Leu805Ile) c.1132C>A (p.Leu378Ile) c.2482C>A (p.Leu828Ile) c.2464-1570C>A (n.2464-1570C>A) c.2473C>A (p.Leu825Ile) c.1774C>A (p.Leu592Ile) c.2521C>A (p.Leu841Ile) | |
16 | g.3770924C>A | CA394551794 | CREBBP | c.2526G>T (p.Gln842His) c.2412G>T (p.Gln804His) c.1131G>T (p.Gln377His) c.2481G>T (p.Gln827His) c.2464-1571G>T (n.2464-1571G>T) c.2472G>T (p.Gln824His) c.1773G>T (p.Gln591His) c.2520G>T (p.Gln840His) | |
16 | g.3770924C= | CA2202951051 | CREBBP | c.2526G= (p.Gln842=) c.2412G= (p.Gln804=) c.1131G= (p.Gln377=) c.2481G= (p.Gln827=) c.2464-1571G= (n.2464-1571G=) c.2472G= (p.Gln824=) c.1773G= (p.Gln591=) c.2520G= (p.Gln840=) | |
16 | g.3770924C>G | CA394551796 | CREBBP | c.2526G>C (p.Gln842His) c.2412G>C (p.Gln804His) c.1131G>C (p.Gln377His) c.2481G>C (p.Gln827His) c.2464-1571G>C (n.2464-1571G>C) c.2472G>C (p.Gln824His) c.1773G>C (p.Gln591His) c.2520G>C (p.Gln840His) | dbSNP |
16 | g.3770924C>T | CA233867 | CREBBP | c.2526G>A (p.Gln842=) c.2412G>A (p.Gln804=) c.1131G>A (p.Gln377=) c.2481G>A (p.Gln827=) c.2464-1571G>A (n.2464-1571G>A) c.2472G>A (p.Gln824=) c.1773G>A (p.Gln591=) c.2520G>A (p.Gln840=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770925T>A | CA394551799 | CREBBP | c.2525A>T (p.Gln842Leu) c.2411A>T (p.Gln804Leu) c.1130A>T (p.Gln377Leu) c.2480A>T (p.Gln827Leu) c.2464-1572A>T (n.2464-1572A>T) c.2471A>T (p.Gln824Leu) c.1772A>T (p.Gln591Leu) c.2519A>T (p.Gln840Leu) | |
16 | g.3770925T>C | CA394551800 | CREBBP | c.2525A>G (p.Gln842Arg) c.2411A>G (p.Gln804Arg) c.1130A>G (p.Gln377Arg) c.2480A>G (p.Gln827Arg) c.2464-1572A>G (n.2464-1572A>G) c.2471A>G (p.Gln824Arg) c.1772A>G (p.Gln591Arg) c.2519A>G (p.Gln840Arg) | |
16 | g.3770925T>G | CA276969162 | CREBBP | c.2525A>C (p.Gln842Pro) c.2411A>C (p.Gln804Pro) c.1130A>C (p.Gln377Pro) c.2480A>C (p.Gln827Pro) c.2464-1572A>C (n.2464-1572A>C) c.2471A>C (p.Gln824Pro) c.1772A>C (p.Gln591Pro) c.2519A>C (p.Gln840Pro) | dbSNP |
16 | g.3770925T= | CA2202951054 | CREBBP | c.2525A= (p.Gln842=) c.2411A= (p.Gln804=) c.1130A= (p.Gln377=) c.2480A= (p.Gln827=) c.2464-1572A= (n.2464-1572A=) c.2471A= (p.Gln824=) c.1772A= (p.Gln591=) c.2519A= (p.Gln840=) | |
16 | g.3770926G>A | CA394551802 | CREBBP | c.2524C>T (p.Gln842Ter) c.2410C>T (p.Gln804Ter) c.1129C>T (p.Gln377Ter) c.2479C>T (p.Gln827Ter) c.2464-1573C>T (n.2464-1573C>T) c.2470C>T (p.Gln824Ter) c.1771C>T (p.Gln591Ter) c.2518C>T (p.Gln840Ter) | dbSNP |
16 | g.3770926G>C | CA394551805 | CREBBP | c.2524C>G (p.Gln842Glu) c.2410C>G (p.Gln804Glu) c.1129C>G (p.Gln377Glu) c.2479C>G (p.Gln827Glu) c.2464-1573C>G (n.2464-1573C>G) c.2470C>G (p.Gln824Glu) c.1771C>G (p.Gln591Glu) c.2518C>G (p.Gln840Glu) | |
16 | g.3770926G>T | CA394551807 | CREBBP | c.2524C>A (p.Gln842Lys) c.2410C>A (p.Gln804Lys) c.1129C>A (p.Gln377Lys) c.2479C>A (p.Gln827Lys) c.2464-1573C>A (n.2464-1573C>A) c.2470C>A (p.Gln824Lys) c.1771C>A (p.Gln591Lys) c.2518C>A (p.Gln840Lys) | dbSNP |
16 | g.3770927G>A | CA493394936 | CREBBP | c.2523C>T (p.Ser841=) c.2409C>T (p.Ser803=) c.1128C>T (p.Ser376=) c.2478C>T (p.Ser826=) c.2464-1574C>T (n.2464-1574C>T) c.2469C>T (p.Ser823=) c.1770C>T (p.Ser590=) c.2517C>T (p.Ser839=) | ClinVar dbSNP gnomAD v4 |
16 | g.3770927G>C | CA394551811 | CREBBP | c.2523C>G (p.Ser841Arg) c.2409C>G (p.Ser803Arg) c.1128C>G (p.Ser376Arg) c.2478C>G (p.Ser826Arg) c.2464-1574C>G (n.2464-1574C>G) c.2469C>G (p.Ser823Arg) c.1770C>G (p.Ser590Arg) c.2517C>G (p.Ser839Arg) | dbSNP |
16 | g.3770927G= | CA2202951057 | CREBBP | c.2523C= (p.Ser841=) c.2409C= (p.Ser803=) c.1128C= (p.Ser376=) c.2478C= (p.Ser826=) c.2464-1574C= (n.2464-1574C=) c.2469C= (p.Ser823=) c.1770C= (p.Ser590=) c.2517C= (p.Ser839=) | |
16 | g.3770927G>T | CA394551809 | CREBBP | c.2523C>A (p.Ser841Arg) c.2409C>A (p.Ser803Arg) c.1128C>A (p.Ser376Arg) c.2478C>A (p.Ser826Arg) c.2464-1574C>A (n.2464-1574C>A) c.2469C>A (p.Ser823Arg) c.1770C>A (p.Ser590Arg) c.2517C>A (p.Ser839Arg) | dbSNP |
16 | g.3770928C>A | CA394551813 | CREBBP | c.2522G>T (p.Ser841Ile) c.2408G>T (p.Ser803Ile) c.1127G>T (p.Ser376Ile) c.2477G>T (p.Ser826Ile) c.2464-1575G>T (n.2464-1575G>T) c.2468G>T (p.Ser823Ile) c.1769G>T (p.Ser590Ile) c.2516G>T (p.Ser839Ile) | dbSNP |
16 | g.3770928C>G | CA394551814 | CREBBP | c.2522G>C (p.Ser841Thr) c.2408G>C (p.Ser803Thr) c.1127G>C (p.Ser376Thr) c.2477G>C (p.Ser826Thr) c.2464-1575G>C (n.2464-1575G>C) c.2468G>C (p.Ser823Thr) c.1769G>C (p.Ser590Thr) c.2516G>C (p.Ser839Thr) | dbSNP gnomAD v4 |
16 | g.3770928C>T | CA394551815 | CREBBP | c.2522G>A (p.Ser841Asn) c.2408G>A (p.Ser803Asn) c.1127G>A (p.Ser376Asn) c.2477G>A (p.Ser826Asn) c.2464-1575G>A (n.2464-1575G>A) c.2468G>A (p.Ser823Asn) c.1769G>A (p.Ser590Asn) c.2516G>A (p.Ser839Asn) | dbSNP |
16 | g.3770929T>A | CA394551818 | CREBBP | c.2521A>T (p.Ser841Cys) c.2407A>T (p.Ser803Cys) c.1126A>T (p.Ser376Cys) c.2476A>T (p.Ser826Cys) c.2464-1576A>T (n.2464-1576A>T) c.2467A>T (p.Ser823Cys) c.1768A>T (p.Ser590Cys) c.2515A>T (p.Ser839Cys) | gnomAD v4 |
16 | g.3770929T>C | CA394551820 | CREBBP | c.2521A>G (p.Ser841Gly) c.2407A>G (p.Ser803Gly) c.1126A>G (p.Ser376Gly) c.2476A>G (p.Ser826Gly) c.2464-1576A>G (n.2464-1576A>G) c.2467A>G (p.Ser823Gly) c.1768A>G (p.Ser590Gly) c.2515A>G (p.Ser839Gly) | |
16 | g.3770929T>G | CA394551821 | CREBBP | c.2521A>C (p.Ser841Arg) c.2407A>C (p.Ser803Arg) c.1126A>C (p.Ser376Arg) c.2476A>C (p.Ser826Arg) c.2464-1576A>C (n.2464-1576A>C) c.2467A>C (p.Ser823Arg) c.1768A>C (p.Ser590Arg) c.2515A>C (p.Ser839Arg) | |
16 | g.3770930G>A | CA7870091 | CREBBP | c.2520C>T (p.Ala840=) c.2406C>T (p.Ala802=) c.1125C>T (p.Ala375=) c.2475C>T (p.Ala825=) c.2464-1577C>T (n.2464-1577C>T) c.2466C>T (p.Ala822=) c.1767C>T (p.Ala589=) c.2514C>T (p.Ala838=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770930G>C | CA493394937 | CREBBP | c.2520C>G (p.Ala840=) c.2406C>G (p.Ala802=) c.1125C>G (p.Ala375=) c.2475C>G (p.Ala825=) c.2464-1577C>G (n.2464-1577C>G) c.2466C>G (p.Ala822=) c.1767C>G (p.Ala589=) c.2514C>G (p.Ala838=) | |
16 | g.3770930G= | CA2202951060 | CREBBP | c.2520C= (p.Ala840=) c.2406C= (p.Ala802=) c.1125C= (p.Ala375=) c.2475C= (p.Ala825=) c.2464-1577C= (n.2464-1577C=) c.2466C= (p.Ala822=) c.1767C= (p.Ala589=) c.2514C= (p.Ala838=) | |
16 | g.3770930G>T | CA493394938 | CREBBP | c.2520C>A (p.Ala840=) c.2406C>A (p.Ala802=) c.1125C>A (p.Ala375=) c.2475C>A (p.Ala825=) c.2464-1577C>A (n.2464-1577C>A) c.2466C>A (p.Ala822=) c.1767C>A (p.Ala589=) c.2514C>A (p.Ala838=) | dbSNP |
16 | g.3770931G>A | CA394551827 | CREBBP | c.2519C>T (p.Ala840Val) c.2405C>T (p.Ala802Val) c.1124C>T (p.Ala375Val) c.2474C>T (p.Ala825Val) c.2464-1578C>T (n.2464-1578C>T) c.2465C>T (p.Ala822Val) c.1766C>T (p.Ala589Val) c.2513C>T (p.Ala838Val) | dbSNP gnomAD v4 |
16 | g.3770931G>C | CA394551824 | CREBBP | c.2519C>G (p.Ala840Gly) c.2405C>G (p.Ala802Gly) c.1124C>G (p.Ala375Gly) c.2474C>G (p.Ala825Gly) c.2464-1578C>G (n.2464-1578C>G) c.2465C>G (p.Ala822Gly) c.1766C>G (p.Ala589Gly) c.2513C>G (p.Ala838Gly) | dbSNP |
16 | g.3770931G>T | CA394551825 | CREBBP | c.2519C>A (p.Ala840Asp) c.2405C>A (p.Ala802Asp) c.1124C>A (p.Ala375Asp) c.2474C>A (p.Ala825Asp) c.2464-1578C>A (n.2464-1578C>A) c.2465C>A (p.Ala822Asp) c.1766C>A (p.Ala589Asp) c.2513C>A (p.Ala838Asp) | dbSNP |
16 | g.3770932C>A | CA394551829 | CREBBP | c.2518G>T (p.Ala840Ser) c.2404G>T (p.Ala802Ser) c.1123G>T (p.Ala375Ser) c.2473G>T (p.Ala825Ser) c.2464-1579G>T (n.2464-1579G>T) c.2464G>T (p.Ala822Ser) c.1765G>T (p.Ala589Ser) c.2512G>T (p.Ala838Ser) | dbSNP |
16 | g.3770932C= | CA2202951063 | CREBBP | c.2518G= (p.Ala840=) c.2404G= (p.Ala802=) c.1123G= (p.Ala375=) c.2473G= (p.Ala825=) c.2464-1579G= (n.2464-1579G=) c.2464G= (p.Ala822=) c.1765G= (p.Ala589=) c.2512G= (p.Ala838=) | |
16 | g.3770932C>G | CA394551831 | CREBBP | c.2518G>C (p.Ala840Pro) c.2404G>C (p.Ala802Pro) c.1123G>C (p.Ala375Pro) c.2473G>C (p.Ala825Pro) c.2464-1579G>C (n.2464-1579G>C) c.2464G>C (p.Ala822Pro) c.1765G>C (p.Ala589Pro) c.2512G>C (p.Ala838Pro) | dbSNP |
16 | g.3770932C>T | CA394551832 | CREBBP | c.2518G>A (p.Ala840Thr) c.2404G>A (p.Ala802Thr) c.1123G>A (p.Ala375Thr) c.2473G>A (p.Ala825Thr) c.2464-1579G>A (n.2464-1579G>A) c.2464G>A (p.Ala822Thr) c.1765G>A (p.Ala589Thr) c.2512G>A (p.Ala838Thr) | dbSNP |
16 | g.3770933C>A | CA394551834 | CREBBP | c.2517G>T (p.Gln839His) c.2403G>T (p.Gln801His) c.1122G>T (p.Gln374His) c.2472G>T (p.Gln824His) c.2464-1580G>T (n.2464-1580G>T) c.2463G>T (p.Gln821His) c.1764G>T (p.Gln588His) c.2511G>T (p.Gln837His) | dbSNP COSMIC |
16 | g.3770933C>G | CA394551836 | CREBBP | c.2517G>C (p.Gln839His) c.2403G>C (p.Gln801His) c.1122G>C (p.Gln374His) c.2472G>C (p.Gln824His) c.2464-1580G>C (n.2464-1580G>C) c.2463G>C (p.Gln821His) c.1764G>C (p.Gln588His) c.2511G>C (p.Gln837His) | dbSNP |
16 | g.3770933C>T | CA493394942 | CREBBP | c.2517G>A (p.Gln839=) c.2403G>A (p.Gln801=) c.1122G>A (p.Gln374=) c.2472G>A (p.Gln824=) c.2464-1580G>A (n.2464-1580G>A) c.2463G>A (p.Gln821=) c.1764G>A (p.Gln588=) c.2511G>A (p.Gln837=) | dbSNP |
16 | g.3770934T>A | CA394551841 | CREBBP | c.2516A>T (p.Gln839Leu) c.2402A>T (p.Gln801Leu) c.1121A>T (p.Gln374Leu) c.2471A>T (p.Gln824Leu) c.2464-1581A>T (n.2464-1581A>T) c.2462A>T (p.Gln821Leu) c.1763A>T (p.Gln588Leu) c.2510A>T (p.Gln837Leu) | dbSNP |
16 | g.3770934T>C | CA394551838 | CREBBP | c.2516A>G (p.Gln839Arg) c.2402A>G (p.Gln801Arg) c.1121A>G (p.Gln374Arg) c.2471A>G (p.Gln824Arg) c.2464-1581A>G (n.2464-1581A>G) c.2462A>G (p.Gln821Arg) c.1763A>G (p.Gln588Arg) c.2510A>G (p.Gln837Arg) | dbSNP |
16 | g.3770934T>G | CA394551840 | CREBBP | c.2516A>C (p.Gln839Pro) c.2402A>C (p.Gln801Pro) c.1121A>C (p.Gln374Pro) c.2471A>C (p.Gln824Pro) c.2464-1581A>C (n.2464-1581A>C) c.2462A>C (p.Gln821Pro) c.1763A>C (p.Gln588Pro) c.2510A>C (p.Gln837Pro) | dbSNP |
16 | g.3770935G>A | CA394551843 | CREBBP | c.2515C>T (p.Gln839Ter) c.2401C>T (p.Gln801Ter) c.1120C>T (p.Gln374Ter) c.2470C>T (p.Gln824Ter) c.2464-1582C>T (n.2464-1582C>T) c.2461C>T (p.Gln821Ter) c.1762C>T (p.Gln588Ter) c.2509C>T (p.Gln837Ter) | dbSNP COSMIC |
16 | g.3770935G>C | CA394551845 | CREBBP | c.2515C>G (p.Gln839Glu) c.2401C>G (p.Gln801Glu) c.1120C>G (p.Gln374Glu) c.2470C>G (p.Gln824Glu) c.2464-1582C>G (n.2464-1582C>G) c.2461C>G (p.Gln821Glu) c.1762C>G (p.Gln588Glu) c.2509C>G (p.Gln837Glu) | dbSNP |
16 | g.3770935G>T | CA394551847 | CREBBP | c.2515C>A (p.Gln839Lys) c.2401C>A (p.Gln801Lys) c.1120C>A (p.Gln374Lys) c.2470C>A (p.Gln824Lys) c.2464-1582C>A (n.2464-1582C>A) c.2461C>A (p.Gln821Lys) c.1762C>A (p.Gln588Lys) c.2509C>A (p.Gln837Lys) | |
16 | g.3770935_3770941del | CA645593155 | CREBBP | c.2509_2515del (p.Gly837ArgfsTer10) c.2395_2401del (p.Gly799ArgfsTer10) c.1114_1120del (p.Gly372ArgfsTer10) c.2464_2470del (p.Gly822ArgfsTer10) c.2464-1588_2464-1582del (n.2464-1588_2464-1582del) c.2455_2461del (p.Gly819ArgfsTer10) c.1756_1762del (p.Gly586ArgfsTer10) c.2503_2509del (p.Gly835ArgfsTer10) | COSMIC |
16 | g.3770936A>C | CA493394944 | CREBBP | c.2514T>G (p.Pro838=) c.2400T>G (p.Pro800=) c.1119T>G (p.Pro373=) c.2469T>G (p.Pro823=) c.2464-1583T>G (n.2464-1583T>G) c.2460T>G (p.Pro820=) c.1761T>G (p.Pro587=) c.2508T>G (p.Pro836=) | dbSNP gnomAD v4 |
16 | g.3770936A>G | CA493394946 | CREBBP | c.2514T>C (p.Pro838=) c.2400T>C (p.Pro800=) c.1119T>C (p.Pro373=) c.2469T>C (p.Pro823=) c.2464-1583T>C (n.2464-1583T>C) c.2460T>C (p.Pro820=) c.1761T>C (p.Pro587=) c.2508T>C (p.Pro836=) | dbSNP |
16 | g.3770936A>T | CA493394948 | CREBBP | c.2514T>A (p.Pro838=) c.2400T>A (p.Pro800=) c.1119T>A (p.Pro373=) c.2469T>A (p.Pro823=) c.2464-1583T>A (n.2464-1583T>A) c.2460T>A (p.Pro820=) c.1761T>A (p.Pro587=) c.2508T>A (p.Pro836=) | dbSNP |
16 | g.3770936_3770937insTGGC | CA2695222753 | CREBBP | c.2513_2514insGCCA (p.Gln839ProfsTer?) c.2399_2400insGCCA (p.Gln801ProfsTer?) c.1118_1119insGCCA (p.Gln374ProfsTer?) c.2468_2469insGCCA (p.Gln824ProfsTer?) c.2464-1584_2464-1583insGCCA (n.2464-1584_2464-1583insGCCA) c.2459_2460insGCCA (p.Gln821ProfsTer?) c.1760_1761insGCCA (p.Gln588ProfsTer?) c.2507_2508insGCCA (p.Gln837ProfsTer?) | |
16 | g.3770937G>A | CA394551849 | CREBBP | c.2513C>T (p.Pro838Leu) c.2399C>T (p.Pro800Leu) c.1118C>T (p.Pro373Leu) c.2468C>T (p.Pro823Leu) c.2464-1584C>T (n.2464-1584C>T) c.2459C>T (p.Pro820Leu) c.1760C>T (p.Pro587Leu) c.2507C>T (p.Pro836Leu) | |
16 | g.3770937G>C | CA394551851 | CREBBP | c.2513C>G (p.Pro838Arg) c.2399C>G (p.Pro800Arg) c.1118C>G (p.Pro373Arg) c.2468C>G (p.Pro823Arg) c.2464-1584C>G (n.2464-1584C>G) c.2459C>G (p.Pro820Arg) c.1760C>G (p.Pro587Arg) c.2507C>G (p.Pro836Arg) | dbSNP |
16 | g.3770937G>T | CA394551853 | CREBBP | c.2513C>A (p.Pro838His) c.2399C>A (p.Pro800His) c.1118C>A (p.Pro373His) c.2468C>A (p.Pro823His) c.2464-1584C>A (n.2464-1584C>A) c.2459C>A (p.Pro820His) c.1760C>A (p.Pro587His) c.2507C>A (p.Pro836His) | dbSNP |
16 | g.3770938G>A | CA394551855 | CREBBP | c.2512C>T (p.Pro838Ser) c.2398C>T (p.Pro800Ser) c.1117C>T (p.Pro373Ser) c.2467C>T (p.Pro823Ser) c.2464-1585C>T (n.2464-1585C>T) c.2458C>T (p.Pro820Ser) c.1759C>T (p.Pro587Ser) c.2506C>T (p.Pro836Ser) | gnomAD v4 |
16 | g.3770938G>C | CA394551856 | CREBBP | c.2512C>G (p.Pro838Ala) c.2398C>G (p.Pro800Ala) c.1117C>G (p.Pro373Ala) c.2467C>G (p.Pro823Ala) c.2464-1585C>G (n.2464-1585C>G) c.2458C>G (p.Pro820Ala) c.1759C>G (p.Pro587Ala) c.2506C>G (p.Pro836Ala) | gnomAD v4 |
16 | g.3770938G>T | CA394551858 | CREBBP | c.2512C>A (p.Pro838Thr) c.2398C>A (p.Pro800Thr) c.1117C>A (p.Pro373Thr) c.2467C>A (p.Pro823Thr) c.2464-1585C>A (n.2464-1585C>A) c.2458C>A (p.Pro820Thr) c.1759C>A (p.Pro587Thr) c.2506C>A (p.Pro836Thr) | ClinVar |
16 | g.3770939C>A | CA7870092 | CREBBP | c.2511G>T (p.Gly837=) c.2397G>T (p.Gly799=) c.1116G>T (p.Gly372=) c.2466G>T (p.Gly822=) c.2464-1586G>T (n.2464-1586G>T) c.2457G>T (p.Gly819=) c.1758G>T (p.Gly586=) c.2505G>T (p.Gly835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770939C= | CA2202951066 | CREBBP | c.2511G= (p.Gly837=) c.2397G= (p.Gly799=) c.1116G= (p.Gly372=) c.2466G= (p.Gly822=) c.2464-1586G= (n.2464-1586G=) c.2457G= (p.Gly819=) c.1758G= (p.Gly586=) c.2505G= (p.Gly835=) | |
16 | g.3770939C>G | CA493394949 | CREBBP | c.2511G>C (p.Gly837=) c.2397G>C (p.Gly799=) c.1116G>C (p.Gly372=) c.2466G>C (p.Gly822=) c.2464-1586G>C (n.2464-1586G>C) c.2457G>C (p.Gly819=) c.1758G>C (p.Gly586=) c.2505G>C (p.Gly835=) | dbSNP |
16 | g.3770939C>T | CA493394950 | CREBBP | c.2511G>A (p.Gly837=) c.2397G>A (p.Gly799=) c.1116G>A (p.Gly372=) c.2466G>A (p.Gly822=) c.2464-1586G>A (n.2464-1586G>A) c.2457G>A (p.Gly819=) c.1758G>A (p.Gly586=) c.2505G>A (p.Gly835=) | dbSNP |
16 | g.3770942del | CA645593156 | CREBBP | c.2511del (p.Pro838LeufsTer11) c.2397del (p.Pro800LeufsTer11) c.1116del (p.Pro373LeufsTer11) c.2466del (p.Pro823LeufsTer11) c.2464-1586del (n.2464-1586del) c.2457del (p.Pro820LeufsTer11) c.1758del (p.Pro587LeufsTer11) c.2505del (p.Pro836LeufsTer11) | COSMIC |
16 | g.3770940C>A | CA394551862 | CREBBP | c.2510G>T (p.Gly837Val) c.2396G>T (p.Gly799Val) c.1115G>T (p.Gly372Val) c.2465G>T (p.Gly822Val) c.2464-1587G>T (n.2464-1587G>T) c.2456G>T (p.Gly819Val) c.1757G>T (p.Gly586Val) c.2504G>T (p.Gly835Val) | dbSNP COSMIC |
16 | g.3770940C>G | CA394551863 | CREBBP | c.2510G>C (p.Gly837Ala) c.2396G>C (p.Gly799Ala) c.1115G>C (p.Gly372Ala) c.2465G>C (p.Gly822Ala) c.2464-1587G>C (n.2464-1587G>C) c.2456G>C (p.Gly819Ala) c.1757G>C (p.Gly586Ala) c.2504G>C (p.Gly835Ala) | dbSNP |
16 | g.3770940C>T | CA394551865 | CREBBP | c.2510G>A (p.Gly837Glu) c.2396G>A (p.Gly799Glu) c.1115G>A (p.Gly372Glu) c.2465G>A (p.Gly822Glu) c.2464-1587G>A (n.2464-1587G>A) c.2456G>A (p.Gly819Glu) c.1757G>A (p.Gly586Glu) c.2504G>A (p.Gly835Glu) | dbSNP |
16 | g.3770940_3770941insAG | CA2575894233 | CREBBP | c.2509_2510insCT (p.Gly837AlafsTer13) c.2395_2396insCT (p.Gly799AlafsTer13) c.1114_1115insCT (p.Gly372AlafsTer13) c.2464_2465insCT (p.Gly822AlafsTer13) c.2464-1588_2464-1587insCT (n.2464-1588_2464-1587insCT) c.2455_2456insCT (p.Gly819AlafsTer13) c.1756_1757insCT (p.Gly586AlafsTer13) c.2503_2504insCT (p.Gly835AlafsTer13) | |
16 | g.3770941C>A | CA394551871 | CREBBP | c.2509G>T (p.Gly837Trp) c.2395G>T (p.Gly799Trp) c.1114G>T (p.Gly372Trp) c.2464G>T (p.Gly822Trp) c.2464-1588G>T (n.2464-1588G>T) c.2455G>T (p.Gly819Trp) c.1756G>T (p.Gly586Trp) c.2503G>T (p.Gly835Trp) | dbSNP |
16 | g.3770941C>G | CA394551867 | CREBBP | c.2509G>C (p.Gly837Arg) c.2395G>C (p.Gly799Arg) c.1114G>C (p.Gly372Arg) c.2464G>C (p.Gly822Arg) c.2464-1588G>C (n.2464-1588G>C) c.2455G>C (p.Gly819Arg) c.1756G>C (p.Gly586Arg) c.2503G>C (p.Gly835Arg) | dbSNP |
16 | g.3770941C>T | CA394551869 | CREBBP | c.2509G>A (p.Gly837Arg) c.2395G>A (p.Gly799Arg) c.1114G>A (p.Gly372Arg) c.2464G>A (p.Gly822Arg) c.2464-1588G>A (n.2464-1588G>A) c.2455G>A (p.Gly819Arg) c.1756G>A (p.Gly586Arg) c.2503G>A (p.Gly835Arg) | dbSNP |
16 | g.3770942C>A | CA493394953 | CREBBP | c.2508G>T (p.Leu836=) c.2394G>T (p.Leu798=) c.1113G>T (p.Leu371=) c.2463G>T (p.Leu821=) c.2464-1589G>T (n.2464-1589G>T) c.2454G>T (p.Leu818=) c.1755G>T (p.Leu585=) c.2502G>T (p.Leu834=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3770942C>G | CA493394954 | CREBBP | c.2508G>C (p.Leu836=) c.2394G>C (p.Leu798=) c.1113G>C (p.Leu371=) c.2463G>C (p.Leu821=) c.2464-1589G>C (n.2464-1589G>C) c.2454G>C (p.Leu818=) c.1755G>C (p.Leu585=) c.2502G>C (p.Leu834=) | dbSNP |
16 | g.3770942C>T | CA493394955 | CREBBP | c.2508G>A (p.Leu836=) c.2394G>A (p.Leu798=) c.1113G>A (p.Leu371=) c.2463G>A (p.Leu821=) c.2464-1589G>A (n.2464-1589G>A) c.2454G>A (p.Leu818=) c.1755G>A (p.Leu585=) c.2502G>A (p.Leu834=) | dbSNP |
16 | g.3770943A= | CA2202951071 | CREBBP | c.2507T= (p.Leu836=) c.2393T= (p.Leu798=) c.1112T= (p.Leu371=) c.2462T= (p.Leu821=) c.2464-1590T= (n.2464-1590T=) c.2453T= (p.Leu818=) c.1754T= (p.Leu585=) c.2501T= (p.Leu834=) | |
16 | g.3770943A>C | CA394551872 | CREBBP | c.2507T>G (p.Leu836Arg) c.2393T>G (p.Leu798Arg) c.1112T>G (p.Leu371Arg) c.2462T>G (p.Leu821Arg) c.2464-1590T>G (n.2464-1590T>G) c.2453T>G (p.Leu818Arg) c.1754T>G (p.Leu585Arg) c.2501T>G (p.Leu834Arg) | |
16 | g.3770943A>G | CA394551873 | CREBBP | c.2507T>C (p.Leu836Pro) c.2393T>C (p.Leu798Pro) c.1112T>C (p.Leu371Pro) c.2462T>C (p.Leu821Pro) c.2464-1590T>C (n.2464-1590T>C) c.2453T>C (p.Leu818Pro) c.1754T>C (p.Leu585Pro) c.2501T>C (p.Leu834Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770943A>T | CA394551876 | CREBBP | c.2507T>A (p.Leu836Gln) c.2393T>A (p.Leu798Gln) c.1112T>A (p.Leu371Gln) c.2462T>A (p.Leu821Gln) c.2464-1590T>A (n.2464-1590T>A) c.2453T>A (p.Leu818Gln) c.1754T>A (p.Leu585Gln) c.2501T>A (p.Leu834Gln) | dbSNP gnomAD v4 |
16 | g.3770944G>A | CA493394956 | CREBBP | c.2506C>T (p.Leu836=) c.2392C>T (p.Leu798=) c.1111C>T (p.Leu371=) c.2461C>T (p.Leu821=) c.2464-1591C>T (n.2464-1591C>T) c.2452C>T (p.Leu818=) c.1753C>T (p.Leu585=) c.2500C>T (p.Leu834=) | dbSNP |
16 | g.3770944G>C | CA394551878 | CREBBP | c.2506C>G (p.Leu836Val) c.2392C>G (p.Leu798Val) c.1111C>G (p.Leu371Val) c.2461C>G (p.Leu821Val) c.2464-1591C>G (n.2464-1591C>G) c.2452C>G (p.Leu818Val) c.1753C>G (p.Leu585Val) c.2500C>G (p.Leu834Val) | dbSNP |
16 | g.3770944G= | CA2202951074 | CREBBP | c.2506C= (p.Leu836=) c.2392C= (p.Leu798=) c.1111C= (p.Leu371=) c.2461C= (p.Leu821=) c.2464-1591C= (n.2464-1591C=) c.2452C= (p.Leu818=) c.1753C= (p.Leu585=) c.2500C= (p.Leu834=) | |
16 | g.3770944G>T | CA394551879 | CREBBP | c.2506C>A (p.Leu836Met) c.2392C>A (p.Leu798Met) c.1111C>A (p.Leu371Met) c.2461C>A (p.Leu821Met) c.2464-1591C>A (n.2464-1591C>A) c.2452C>A (p.Leu818Met) c.1753C>A (p.Leu585Met) c.2500C>A (p.Leu834Met) | COSMIC |
16 | g.3770945C>A | CA7870093 | CREBBP | c.2505G>T (p.Met835Ile) c.2391G>T (p.Met797Ile) c.1110G>T (p.Met370Ile) c.2460G>T (p.Met820Ile) c.2464-1592G>T (n.2464-1592G>T) c.2451G>T (p.Met817Ile) c.1752G>T (p.Met584Ile) c.2499G>T (p.Met833Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770945C= | CA2202951080 | CREBBP | c.2505G= (p.Met835=) c.2391G= (p.Met797=) c.1110G= (p.Met370=) c.2460G= (p.Met820=) c.2464-1592G= (n.2464-1592G=) c.2451G= (p.Met817=) c.1752G= (p.Met584=) c.2499G= (p.Met833=) | |
16 | g.3770945C>G | CA394551884 | CREBBP | c.2505G>C (p.Met835Ile) c.2391G>C (p.Met797Ile) c.1110G>C (p.Met370Ile) c.2460G>C (p.Met820Ile) c.2464-1592G>C (n.2464-1592G>C) c.2451G>C (p.Met817Ile) c.1752G>C (p.Met584Ile) c.2499G>C (p.Met833Ile) | dbSNP |
16 | g.3770945C>T | CA394551882 | CREBBP | c.2505G>A (p.Met835Ile) c.2391G>A (p.Met797Ile) c.1110G>A (p.Met370Ile) c.2460G>A (p.Met820Ile) c.2464-1592G>A (n.2464-1592G>A) c.2451G>A (p.Met817Ile) c.1752G>A (p.Met584Ile) c.2499G>A (p.Met833Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.3770946A= | CA2202951083 | CREBBP | c.2504T= (p.Met835=) c.2390T= (p.Met797=) c.1109T= (p.Met370=) c.2459T= (p.Met820=) c.2464-1593T= (n.2464-1593T=) c.2450T= (p.Met817=) c.1751T= (p.Met584=) c.2498T= (p.Met833=) | |
16 | g.3770946A>C | CA394551887 | CREBBP | c.2504T>G (p.Met835Arg) c.2390T>G (p.Met797Arg) c.1109T>G (p.Met370Arg) c.2459T>G (p.Met820Arg) c.2464-1593T>G (n.2464-1593T>G) c.2450T>G (p.Met817Arg) c.1751T>G (p.Met584Arg) c.2498T>G (p.Met833Arg) | |
16 | g.3770946A>G | CA394551889 | CREBBP | c.2504T>C (p.Met835Thr) c.2390T>C (p.Met797Thr) c.1109T>C (p.Met370Thr) c.2459T>C (p.Met820Thr) c.2464-1593T>C (n.2464-1593T>C) c.2450T>C (p.Met817Thr) c.1751T>C (p.Met584Thr) c.2498T>C (p.Met833Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3770946A>T | CA394551891 | CREBBP | c.2504T>A (p.Met835Lys) c.2390T>A (p.Met797Lys) c.1109T>A (p.Met370Lys) c.2459T>A (p.Met820Lys) c.2464-1593T>A (n.2464-1593T>A) c.2450T>A (p.Met817Lys) c.1751T>A (p.Met584Lys) c.2498T>A (p.Met833Lys) | dbSNP |
16 | g.3770947T>A | CA394551893 | CREBBP | c.2503A>T (p.Met835Leu) c.2389A>T (p.Met797Leu) c.1108A>T (p.Met370Leu) c.2458A>T (p.Met820Leu) c.2464-1594A>T (n.2464-1594A>T) c.2449A>T (p.Met817Leu) c.1750A>T (p.Met584Leu) c.2497A>T (p.Met833Leu) | dbSNP |
16 | g.3770947T>C | CA7870094 | CREBBP | c.2503A>G (p.Met835Val) c.2389A>G (p.Met797Val) c.1108A>G (p.Met370Val) c.2458A>G (p.Met820Val) c.2464-1594A>G (n.2464-1594A>G) c.2449A>G (p.Met817Val) c.1750A>G (p.Met584Val) c.2497A>G (p.Met833Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770947T>G | CA394551896 | CREBBP | c.2503A>C (p.Met835Leu) c.2389A>C (p.Met797Leu) c.1108A>C (p.Met370Leu) c.2458A>C (p.Met820Leu) c.2464-1594A>C (n.2464-1594A>C) c.2449A>C (p.Met817Leu) c.1750A>C (p.Met584Leu) c.2497A>C (p.Met833Leu) | |
16 | g.3770947T= | CA2202951087 | CREBBP | c.2503A= (p.Met835=) c.2389A= (p.Met797=) c.1108A= (p.Met370=) c.2458A= (p.Met820=) c.2464-1594A= (n.2464-1594A=) c.2449A= (p.Met817=) c.1750A= (p.Met584=) c.2497A= (p.Met833=) | |
16 | g.3770948G>A | CA7870095 | CREBBP | c.2502C>T (p.Asn834=) c.2388C>T (p.Asn796=) c.1107C>T (p.Asn369=) c.2457C>T (p.Asn819=) c.2464-1595C>T (n.2464-1595C>T) c.2448C>T (p.Asn816=) c.1749C>T (p.Asn583=) c.2496C>T (p.Asn832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770948G>C | CA394551898 | CREBBP | c.2502C>G (p.Asn834Lys) c.2388C>G (p.Asn796Lys) c.1107C>G (p.Asn369Lys) c.2457C>G (p.Asn819Lys) c.2464-1595C>G (n.2464-1595C>G) c.2448C>G (p.Asn816Lys) c.1749C>G (p.Asn583Lys) c.2496C>G (p.Asn832Lys) | dbSNP |
16 | g.3770948G= | CA2202951089 | CREBBP | c.2502C= (p.Asn834=) c.2388C= (p.Asn796=) c.1107C= (p.Asn369=) c.2457C= (p.Asn819=) c.2464-1595C= (n.2464-1595C=) c.2448C= (p.Asn816=) c.1749C= (p.Asn583=) c.2496C= (p.Asn832=) | |
16 | g.3770948G>T | CA394551900 | CREBBP | c.2502C>A (p.Asn834Lys) c.2388C>A (p.Asn796Lys) c.1107C>A (p.Asn369Lys) c.2457C>A (p.Asn819Lys) c.2464-1595C>A (n.2464-1595C>A) c.2448C>A (p.Asn816Lys) c.1749C>A (p.Asn583Lys) c.2496C>A (p.Asn832Lys) | |
16 | g.3770949T>A | CA394551903 | CREBBP | c.2501A>T (p.Asn834Ile) c.2387A>T (p.Asn796Ile) c.1106A>T (p.Asn369Ile) c.2456A>T (p.Asn819Ile) c.2464-1596A>T (n.2464-1596A>T) c.2447A>T (p.Asn816Ile) c.1748A>T (p.Asn583Ile) c.2495A>T (p.Asn832Ile) | dbSNP |
16 | g.3770949T>C | CA394551905 | CREBBP | c.2501A>G (p.Asn834Ser) c.2387A>G (p.Asn796Ser) c.1106A>G (p.Asn369Ser) c.2456A>G (p.Asn819Ser) c.2464-1596A>G (n.2464-1596A>G) c.2447A>G (p.Asn816Ser) c.1748A>G (p.Asn583Ser) c.2495A>G (p.Asn832Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770949T>G | CA394551906 | CREBBP | c.2501A>C (p.Asn834Thr) c.2387A>C (p.Asn796Thr) c.1106A>C (p.Asn369Thr) c.2456A>C (p.Asn819Thr) c.2464-1596A>C (n.2464-1596A>C) c.2447A>C (p.Asn816Thr) c.1748A>C (p.Asn583Thr) c.2495A>C (p.Asn832Thr) | dbSNP |
16 | g.3770949T= | CA2202951092 | CREBBP | c.2501A= (p.Asn834=) c.2387A= (p.Asn796=) c.1106A= (p.Asn369=) c.2456A= (p.Asn819=) c.2464-1596A= (n.2464-1596A=) c.2447A= (p.Asn816=) c.1748A= (p.Asn583=) c.2495A= (p.Asn832=) | |
16 | g.3770950T>A | CA394551907 | CREBBP | c.2500A>T (p.Asn834Tyr) c.2386A>T (p.Asn796Tyr) c.1105A>T (p.Asn369Tyr) c.2455A>T (p.Asn819Tyr) c.2464-1597A>T (n.2464-1597A>T) c.2446A>T (p.Asn816Tyr) c.1747A>T (p.Asn583Tyr) c.2494A>T (p.Asn832Tyr) | |
16 | g.3770950T>C | CA394551908 | CREBBP | c.2500A>G (p.Asn834Asp) c.2386A>G (p.Asn796Asp) c.1105A>G (p.Asn369Asp) c.2455A>G (p.Asn819Asp) c.2464-1597A>G (n.2464-1597A>G) c.2446A>G (p.Asn816Asp) c.1747A>G (p.Asn583Asp) c.2494A>G (p.Asn832Asp) | |
16 | g.3770950T>G | CA394551909 | CREBBP | c.2500A>C (p.Asn834His) c.2386A>C (p.Asn796His) c.1105A>C (p.Asn369His) c.2455A>C (p.Asn819His) c.2464-1597A>C (n.2464-1597A>C) c.2446A>C (p.Asn816His) c.1747A>C (p.Asn583His) c.2494A>C (p.Asn832His) | |
16 | g.3770951G>A | CA493394960 | CREBBP | c.2499C>T (p.Leu833=) c.2385C>T (p.Leu795=) c.1104C>T (p.Leu368=) c.2454C>T (p.Leu818=) c.2464-1598C>T (n.2464-1598C>T) c.2445C>T (p.Leu815=) c.1746C>T (p.Leu582=) c.2493C>T (p.Leu831=) | dbSNP |
16 | g.3770951G>C | CA493394961 | CREBBP | c.2499C>G (p.Leu833=) c.2385C>G (p.Leu795=) c.1104C>G (p.Leu368=) c.2454C>G (p.Leu818=) c.2464-1598C>G (n.2464-1598C>G) c.2445C>G (p.Leu815=) c.1746C>G (p.Leu582=) c.2493C>G (p.Leu831=) | COSMIC |
16 | g.3770951G= | CA2202951096 | CREBBP | c.2499C= (p.Leu833=) c.2385C= (p.Leu795=) c.1104C= (p.Leu368=) c.2454C= (p.Leu818=) c.2464-1598C= (n.2464-1598C=) c.2445C= (p.Leu815=) c.1746C= (p.Leu582=) c.2493C= (p.Leu831=) | |
16 | g.3770951G>T | CA493394962 | CREBBP | c.2499C>A (p.Leu833=) c.2385C>A (p.Leu795=) c.1104C>A (p.Leu368=) c.2454C>A (p.Leu818=) c.2464-1598C>A (n.2464-1598C>A) c.2445C>A (p.Leu815=) c.1746C>A (p.Leu582=) c.2493C>A (p.Leu831=) | |
16 | g.3770954_3770955del | CA645593157 | CREBBP | c.2498_2499del (p.Leu833GlnfsTer?) c.2384_2385del (p.Leu795GlnfsTer?) c.1103_1104del (p.Leu368GlnfsTer?) c.2453_2454del (p.Leu818GlnfsTer?) c.2464-1599_2464-1598del (n.2464-1599_2464-1598del) c.2444_2445del (p.Leu815GlnfsTer?) c.1745_1746del (p.Leu582GlnfsTer?) c.2492_2493del (p.Leu831GlnfsTer?) | COSMIC |
16 | g.3770952A>C | CA394551911 | CREBBP | c.2498T>G (p.Leu833Arg) c.2384T>G (p.Leu795Arg) c.1103T>G (p.Leu368Arg) c.2453T>G (p.Leu818Arg) c.2464-1599T>G (n.2464-1599T>G) c.2444T>G (p.Leu815Arg) c.1745T>G (p.Leu582Arg) c.2492T>G (p.Leu831Arg) | |
16 | g.3770952A>G | CA394551913 | CREBBP | c.2498T>C (p.Leu833Pro) c.2384T>C (p.Leu795Pro) c.1103T>C (p.Leu368Pro) c.2453T>C (p.Leu818Pro) c.2464-1599T>C (n.2464-1599T>C) c.2444T>C (p.Leu815Pro) c.1745T>C (p.Leu582Pro) c.2492T>C (p.Leu831Pro) | dbSNP gnomAD v4 |
16 | g.3770952A>T | CA394551915 | CREBBP | c.2498T>A (p.Leu833His) c.2384T>A (p.Leu795His) c.1103T>A (p.Leu368His) c.2453T>A (p.Leu818His) c.2464-1599T>A (n.2464-1599T>A) c.2444T>A (p.Leu815His) c.1745T>A (p.Leu582His) c.2492T>A (p.Leu831His) | dbSNP |
16 | g.3770953G>A | CA276969181 | CREBBP | c.2497C>T (p.Leu833Phe) c.2383C>T (p.Leu795Phe) c.1102C>T (p.Leu368Phe) c.2452C>T (p.Leu818Phe) c.2464-1600C>T (n.2464-1600C>T) c.2443C>T (p.Leu815Phe) c.1744C>T (p.Leu582Phe) c.2491C>T (p.Leu831Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3770953G>C | CA394551917 | CREBBP | c.2497C>G (p.Leu833Val) c.2383C>G (p.Leu795Val) c.1102C>G (p.Leu368Val) c.2452C>G (p.Leu818Val) c.2464-1600C>G (n.2464-1600C>G) c.2443C>G (p.Leu815Val) c.1744C>G (p.Leu582Val) c.2491C>G (p.Leu831Val) | |
16 | g.3770953G= | CA2202951100 | CREBBP | c.2497C= (p.Leu833=) c.2383C= (p.Leu795=) c.1102C= (p.Leu368=) c.2452C= (p.Leu818=) c.2464-1600C= (n.2464-1600C=) c.2443C= (p.Leu815=) c.1744C= (p.Leu582=) c.2491C= (p.Leu831=) | |
16 | g.3770953G>T | CA394551919 | CREBBP | c.2497C>A (p.Leu833Ile) c.2383C>A (p.Leu795Ile) c.1102C>A (p.Leu368Ile) c.2452C>A (p.Leu818Ile) c.2464-1600C>A (n.2464-1600C>A) c.2443C>A (p.Leu815Ile) c.1744C>A (p.Leu582Ile) c.2491C>A (p.Leu831Ile) | |
16 | g.3770953dup | CA2695222754 | CREBBP | c.2497dup (p.Leu833ProfsTer?) c.2383dup (p.Leu795ProfsTer?) c.1102dup (p.Leu368ProfsTer?) c.2452dup (p.Leu818ProfsTer?) c.2464-1600dup (n.2464-1600dup) c.2443dup (p.Leu815ProfsTer?) c.1744dup (p.Leu582ProfsTer?) c.2491dup (p.Leu831ProfsTer?) | |
16 | g.3770953_3770959del | CA645593158 | CREBBP | c.2491_2497del (p.Asn831SerfsTer16) c.2377_2383del (p.Asn793SerfsTer16) c.1096_1102del (p.Asn366SerfsTer16) c.2446_2452del (p.Asn816SerfsTer16) c.2464-1606_2464-1600del (n.2464-1606_2464-1600del) c.2437_2443del (p.Asn813SerfsTer16) c.1738_1744del (p.Asn580SerfsTer16) c.2485_2491del (p.Asn829SerfsTer16) | COSMIC |
16 | g.3770954A>C | CA493394965 | CREBBP | c.2496T>G (p.Pro832=) c.2382T>G (p.Pro794=) c.1101T>G (p.Pro367=) c.2451T>G (p.Pro817=) c.2464-1601T>G (n.2464-1601T>G) c.2442T>G (p.Pro814=) c.1743T>G (p.Pro581=) c.2490T>G (p.Pro830=) | |
16 | g.3770954A>G | CA493394966 | CREBBP | c.2496T>C (p.Pro832=) c.2382T>C (p.Pro794=) c.1101T>C (p.Pro367=) c.2451T>C (p.Pro817=) c.2464-1601T>C (n.2464-1601T>C) c.2442T>C (p.Pro814=) c.1743T>C (p.Pro581=) c.2490T>C (p.Pro830=) | |
16 | g.3770954A>T | CA493394964 | CREBBP | c.2496T>A (p.Pro832=) c.2382T>A (p.Pro794=) c.1101T>A (p.Pro367=) c.2451T>A (p.Pro817=) c.2464-1601T>A (n.2464-1601T>A) c.2442T>A (p.Pro814=) c.1743T>A (p.Pro581=) c.2490T>A (p.Pro830=) | |
16 | g.3770955G>A | CA394551920 | CREBBP | c.2495C>T (p.Pro832Leu) c.2381C>T (p.Pro794Leu) c.1100C>T (p.Pro367Leu) c.2450C>T (p.Pro817Leu) c.2464-1602C>T (n.2464-1602C>T) c.2441C>T (p.Pro814Leu) c.1742C>T (p.Pro581Leu) c.2489C>T (p.Pro830Leu) | dbSNP |
16 | g.3770955G>C | CA394551922 | CREBBP | c.2495C>G (p.Pro832Arg) c.2381C>G (p.Pro794Arg) c.1100C>G (p.Pro367Arg) c.2450C>G (p.Pro817Arg) c.2464-1602C>G (n.2464-1602C>G) c.2441C>G (p.Pro814Arg) c.1742C>G (p.Pro581Arg) c.2489C>G (p.Pro830Arg) | dbSNP |
16 | g.3770955G= | CA2202951103 | CREBBP | c.2495C= (p.Pro832=) c.2381C= (p.Pro794=) c.1100C= (p.Pro367=) c.2450C= (p.Pro817=) c.2464-1602C= (n.2464-1602C=) c.2441C= (p.Pro814=) c.1742C= (p.Pro581=) c.2489C= (p.Pro830=) | |
16 | g.3770955G>T | CA7870096 | CREBBP | c.2495C>A (p.Pro832His) c.2381C>A (p.Pro794His) c.1100C>A (p.Pro367His) c.2450C>A (p.Pro817His) c.2464-1602C>A (n.2464-1602C>A) c.2441C>A (p.Pro814His) c.1742C>A (p.Pro581His) c.2489C>A (p.Pro830His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770956G>A | CA7870097 | CREBBP | c.2494C>T (p.Pro832Ser) c.2380C>T (p.Pro794Ser) c.1099C>T (p.Pro367Ser) c.2449C>T (p.Pro817Ser) c.2464-1603C>T (n.2464-1603C>T) c.2440C>T (p.Pro814Ser) c.1741C>T (p.Pro581Ser) c.2488C>T (p.Pro830Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3770956G>C | CA394551927 | CREBBP | c.2494C>G (p.Pro832Ala) c.2380C>G (p.Pro794Ala) c.1099C>G (p.Pro367Ala) c.2449C>G (p.Pro817Ala) c.2464-1603C>G (n.2464-1603C>G) c.2440C>G (p.Pro814Ala) c.1741C>G (p.Pro581Ala) c.2488C>G (p.Pro830Ala) | dbSNP |
16 | g.3770956G= | CA2202951105 | CREBBP | c.2494C= (p.Pro832=) c.2380C= (p.Pro794=) c.1099C= (p.Pro367=) c.2449C= (p.Pro817=) c.2464-1603C= (n.2464-1603C=) c.2440C= (p.Pro814=) c.1741C= (p.Pro581=) c.2488C= (p.Pro830=) | |
16 | g.3770956G>T | CA394551925 | CREBBP | c.2494C>A (p.Pro832Thr) c.2380C>A (p.Pro794Thr) c.1099C>A (p.Pro367Thr) c.2449C>A (p.Pro817Thr) c.2464-1603C>A (n.2464-1603C>A) c.2440C>A (p.Pro814Thr) c.1741C>A (p.Pro581Thr) c.2488C>A (p.Pro830Thr) | dbSNP |
16 | g.3770957G>A | CA7870098 | CREBBP | c.2493C>T (p.Asn831=) c.2379C>T (p.Asn793=) c.1098C>T (p.Asn366=) c.2448C>T (p.Asn816=) c.2464-1604C>T (n.2464-1604C>T) c.2439C>T (p.Asn813=) c.1740C>T (p.Asn580=) c.2487C>T (p.Asn829=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3770957G>C | CA394551930 | CREBBP | c.2493C>G (p.Asn831Lys) c.2379C>G (p.Asn793Lys) c.1098C>G (p.Asn366Lys) c.2448C>G (p.Asn816Lys) c.2464-1604C>G (n.2464-1604C>G) c.2439C>G (p.Asn813Lys) c.1740C>G (p.Asn580Lys) c.2487C>G (p.Asn829Lys) | gnomAD v4 |
16 | g.3770957G= | CA2202951110 | CREBBP | c.2493C= (p.Asn831=) c.2379C= (p.Asn793=) c.1098C= (p.Asn366=) c.2448C= (p.Asn816=) c.2464-1604C= (n.2464-1604C=) c.2439C= (p.Asn813=) c.1740C= (p.Asn580=) c.2487C= (p.Asn829=) | |
16 | g.3770957G>T | CA394551932 | CREBBP | c.2493C>A (p.Asn831Lys) c.2379C>A (p.Asn793Lys) c.1098C>A (p.Asn366Lys) c.2448C>A (p.Asn816Lys) c.2464-1604C>A (n.2464-1604C>A) c.2439C>A (p.Asn813Lys) c.1740C>A (p.Asn580Lys) c.2487C>A (p.Asn829Lys) | gnomAD v4 |
16 | g.3770958T>A | CA394551934 | CREBBP | c.2492A>T (p.Asn831Ile) c.2378A>T (p.Asn793Ile) c.1097A>T (p.Asn366Ile) c.2447A>T (p.Asn816Ile) c.2464-1605A>T (n.2464-1605A>T) c.2438A>T (p.Asn813Ile) c.1739A>T (p.Asn580Ile) c.2486A>T (p.Asn829Ile) | |
16 | g.3770958T>C | CA394551935 | CREBBP | c.2492A>G (p.Asn831Ser) c.2378A>G (p.Asn793Ser) c.1097A>G (p.Asn366Ser) c.2447A>G (p.Asn816Ser) c.2464-1605A>G (n.2464-1605A>G) c.2438A>G (p.Asn813Ser) c.1739A>G (p.Asn580Ser) c.2486A>G (p.Asn829Ser) | gnomAD v4 |
16 | g.3770958T>G | CA394551936 | CREBBP | c.2492A>C (p.Asn831Thr) c.2378A>C (p.Asn793Thr) c.1097A>C (p.Asn366Thr) c.2447A>C (p.Asn816Thr) c.2464-1605A>C (n.2464-1605A>C) c.2438A>C (p.Asn813Thr) c.1739A>C (p.Asn580Thr) c.2486A>C (p.Asn829Thr) | dbSNP |
16 | g.3770959T>A | CA394551938 | CREBBP | c.2491A>T (p.Asn831Tyr) c.2377A>T (p.Asn793Tyr) c.1096A>T (p.Asn366Tyr) c.2446A>T (p.Asn816Tyr) c.2464-1606A>T (n.2464-1606A>T) c.2437A>T (p.Asn813Tyr) c.1738A>T (p.Asn580Tyr) c.2485A>T (p.Asn829Tyr) | dbSNP |
16 | g.3770959T>C | CA394551939 | CREBBP | c.2491A>G (p.Asn831Asp) c.2377A>G (p.Asn793Asp) c.1096A>G (p.Asn366Asp) c.2446A>G (p.Asn816Asp) c.2464-1606A>G (n.2464-1606A>G) c.2437A>G (p.Asn813Asp) c.1738A>G (p.Asn580Asp) c.2485A>G (p.Asn829Asp) | |
16 | g.3770959T>G | CA394551941 | CREBBP | c.2491A>C (p.Asn831His) c.2377A>C (p.Asn793His) c.1096A>C (p.Asn366His) c.2446A>C (p.Asn816His) c.2464-1606A>C (n.2464-1606A>C) c.2437A>C (p.Asn813His) c.1738A>C (p.Asn580His) c.2485A>C (p.Asn829His) | |
16 | g.3770960del | CA973911311 | CREBBP | c.2490del (p.Asn831ThrfsTer18) c.2376del (p.Asn793ThrfsTer18) c.1095del (p.Asn366ThrfsTer18) c.2445del (p.Asn816ThrfsTer18) c.2464-1607del (n.2464-1607del) c.2436del (p.Asn813ThrfsTer18) c.1737del (p.Asn580ThrfsTer18) c.2484del (p.Asn829ThrfsTer18) | gnomAD v3 gnomAD v4 |
16 | g.3770960A>C | CA493394972 | CREBBP | c.2490T>G (p.Pro830=) c.2376T>G (p.Pro792=) c.1095T>G (p.Pro365=) c.2445T>G (p.Pro815=) c.2464-1607T>G (n.2464-1607T>G) c.2436T>G (p.Pro812=) c.1737T>G (p.Pro579=) c.2484T>G (p.Pro828=) | gnomAD v4 |
16 | g.3770960A>G | CA493394970 | CREBBP | c.2490T>C (p.Pro830=) c.2376T>C (p.Pro792=) c.1095T>C (p.Pro365=) c.2445T>C (p.Pro815=) c.2464-1607T>C (n.2464-1607T>C) c.2436T>C (p.Pro812=) c.1737T>C (p.Pro579=) c.2484T>C (p.Pro828=) | |
16 | g.3770960A>T | CA493394971 | CREBBP | c.2490T>A (p.Pro830=) c.2376T>A (p.Pro792=) c.1095T>A (p.Pro365=) c.2445T>A (p.Pro815=) c.2464-1607T>A (n.2464-1607T>A) c.2436T>A (p.Pro812=) c.1737T>A (p.Pro579=) c.2484T>A (p.Pro828=) |