Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3770854T>ACA394551540CREBBPc.2596A>T (p.Met866Leu)
c.2482A>T (p.Met828Leu)
c.1201A>T (p.Met401Leu)
c.2551A>T (p.Met851Leu)
c.2464-1501A>T (n.2464-1501A>T)
c.2542A>T (p.Met848Leu)
c.1843A>T (p.Met615Leu)
c.2590A>T (p.Met864Leu)
 dbSNP
16g.3770854T>CCA7870069CREBBPc.2596A>G (p.Met866Val)
c.2482A>G (p.Met828Val)
c.1201A>G (p.Met401Val)
c.2551A>G (p.Met851Val)
c.2464-1501A>G (n.2464-1501A>G)
c.2542A>G (p.Met848Val)
c.1843A>G (p.Met615Val)
c.2590A>G (p.Met864Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770854T>GCA394551543CREBBPc.2596A>C (p.Met866Leu)
c.2482A>C (p.Met828Leu)
c.1201A>C (p.Met401Leu)
c.2551A>C (p.Met851Leu)
c.2464-1501A>C (n.2464-1501A>C)
c.2542A>C (p.Met848Leu)
c.1843A>C (p.Met615Leu)
c.2590A>C (p.Met864Leu)
 dbSNP
16g.3770854T=CA2202950921CREBBPc.2596A= (p.Met866=)
c.2482A= (p.Met828=)
c.1201A= (p.Met401=)
c.2551A= (p.Met851=)
c.2464-1501A= (n.2464-1501A=)
c.2542A= (p.Met848=)
c.1843A= (p.Met615=)
c.2590A= (p.Met864=)
16g.3770855G>ACA493395105CREBBPc.2595C>T (p.Gly865=)
c.2481C>T (p.Gly827=)
c.1200C>T (p.Gly400=)
c.2550C>T (p.Gly850=)
c.2464-1502C>T (n.2464-1502C>T)
c.2541C>T (p.Gly847=)
c.1842C>T (p.Gly614=)
c.2589C>T (p.Gly863=)
16g.3770855G>CCA493395107CREBBPc.2595C>G (p.Gly865=)
c.2481C>G (p.Gly827=)
c.1200C>G (p.Gly400=)
c.2550C>G (p.Gly850=)
c.2464-1502C>G (n.2464-1502C>G)
c.2541C>G (p.Gly847=)
c.1842C>G (p.Gly614=)
c.2589C>G (p.Gly863=)
16g.3770855G>TCA493395106CREBBPc.2595C>A (p.Gly865=)
c.2481C>A (p.Gly827=)
c.1200C>A (p.Gly400=)
c.2550C>A (p.Gly850=)
c.2464-1502C>A (n.2464-1502C>A)
c.2541C>A (p.Gly847=)
c.1842C>A (p.Gly614=)
c.2589C>A (p.Gly863=)
 gnomAD v4
16g.3770856C>ACA394551547CREBBPc.2594G>T (p.Gly865Val)
c.2480G>T (p.Gly827Val)
c.1199G>T (p.Gly400Val)
c.2549G>T (p.Gly850Val)
c.2464-1503G>T (n.2464-1503G>T)
c.2540G>T (p.Gly847Val)
c.1841G>T (p.Gly614Val)
c.2588G>T (p.Gly863Val)
 dbSNP gnomAD v3 gnomAD v4
16g.3770856C=CA2202950922CREBBPc.2594G= (p.Gly865=)
c.2480G= (p.Gly827=)
c.1199G= (p.Gly400=)
c.2549G= (p.Gly850=)
c.2464-1503G= (n.2464-1503G=)
c.2540G= (p.Gly847=)
c.1841G= (p.Gly614=)
c.2588G= (p.Gly863=)
16g.3770856C>GCA394551548CREBBPc.2594G>C (p.Gly865Ala)
c.2480G>C (p.Gly827Ala)
c.1199G>C (p.Gly400Ala)
c.2549G>C (p.Gly850Ala)
c.2464-1503G>C (n.2464-1503G>C)
c.2540G>C (p.Gly847Ala)
c.1841G>C (p.Gly614Ala)
c.2588G>C (p.Gly863Ala)
 dbSNP
16g.3770856C>TCA394551545CREBBPc.2594G>A (p.Gly865Asp)
c.2480G>A (p.Gly827Asp)
c.1199G>A (p.Gly400Asp)
c.2549G>A (p.Gly850Asp)
c.2464-1503G>A (n.2464-1503G>A)
c.2540G>A (p.Gly847Asp)
c.1841G>A (p.Gly614Asp)
c.2588G>A (p.Gly863Asp)
 dbSNP
16g.3770857C>ACA394551550CREBBPc.2593G>T (p.Gly865Cys)
c.2479G>T (p.Gly827Cys)
c.1198G>T (p.Gly400Cys)
c.2548G>T (p.Gly850Cys)
c.2464-1504G>T (n.2464-1504G>T)
c.2539G>T (p.Gly847Cys)
c.1840G>T (p.Gly614Cys)
c.2587G>T (p.Gly863Cys)
16g.3770857C=CA2202950925CREBBPc.2593G= (p.Gly865=)
c.2479G= (p.Gly827=)
c.1198G= (p.Gly400=)
c.2548G= (p.Gly850=)
c.2464-1504G= (n.2464-1504G=)
c.2539G= (p.Gly847=)
c.1840G= (p.Gly614=)
c.2587G= (p.Gly863=)
16g.3770857C>GCA394551552CREBBPc.2593G>C (p.Gly865Arg)
c.2479G>C (p.Gly827Arg)
c.1198G>C (p.Gly400Arg)
c.2548G>C (p.Gly850Arg)
c.2464-1504G>C (n.2464-1504G>C)
c.2539G>C (p.Gly847Arg)
c.1840G>C (p.Gly614Arg)
c.2587G>C (p.Gly863Arg)
 dbSNP
16g.3770857C>TCA394551553CREBBPc.2593G>A (p.Gly865Ser)
c.2479G>A (p.Gly827Ser)
c.1198G>A (p.Gly400Ser)
c.2548G>A (p.Gly850Ser)
c.2464-1504G>A (n.2464-1504G>A)
c.2539G>A (p.Gly847Ser)
c.1840G>A (p.Gly614Ser)
c.2587G>A (p.Gly863Ser)
 dbSNP
16g.3770858A=CA2202950927CREBBPc.2592T= (p.Ala864=)
c.2478T= (p.Ala826=)
c.1197T= (p.Ala399=)
c.2547T= (p.Ala849=)
c.2464-1505T= (n.2464-1505T=)
c.2538T= (p.Ala846=)
c.1839T= (p.Ala613=)
c.2586T= (p.Ala862=)
16g.3770858A>CCA493395109CREBBPc.2592T>G (p.Ala864=)
c.2478T>G (p.Ala826=)
c.1197T>G (p.Ala399=)
c.2547T>G (p.Ala849=)
c.2464-1505T>G (n.2464-1505T>G)
c.2538T>G (p.Ala846=)
c.1839T>G (p.Ala613=)
c.2586T>G (p.Ala862=)
16g.3770858A>GCA7870070CREBBPc.2592T>C (p.Ala864=)
c.2478T>C (p.Ala826=)
c.1197T>C (p.Ala399=)
c.2547T>C (p.Ala849=)
c.2464-1505T>C (n.2464-1505T>C)
c.2538T>C (p.Ala846=)
c.1839T>C (p.Ala613=)
c.2586T>C (p.Ala862=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770858A>TCA493395110CREBBPc.2592T>A (p.Ala864=)
c.2478T>A (p.Ala826=)
c.1197T>A (p.Ala399=)
c.2547T>A (p.Ala849=)
c.2464-1505T>A (n.2464-1505T>A)
c.2538T>A (p.Ala846=)
c.1839T>A (p.Ala613=)
c.2586T>A (p.Ala862=)
 dbSNP
16g.3770859G>ACA394551560CREBBPc.2591C>T (p.Ala864Val)
c.2477C>T (p.Ala826Val)
c.1196C>T (p.Ala399Val)
c.2546C>T (p.Ala849Val)
c.2464-1506C>T (n.2464-1506C>T)
c.2537C>T (p.Ala846Val)
c.1838C>T (p.Ala613Val)
c.2585C>T (p.Ala862Val)
 dbSNP
16g.3770859G>CCA394551558CREBBPc.2591C>G (p.Ala864Gly)
c.2477C>G (p.Ala826Gly)
c.1196C>G (p.Ala399Gly)
c.2546C>G (p.Ala849Gly)
c.2464-1506C>G (n.2464-1506C>G)
c.2537C>G (p.Ala846Gly)
c.1838C>G (p.Ala613Gly)
c.2585C>G (p.Ala862Gly)
 dbSNP
16g.3770859G>TCA394551557CREBBPc.2591C>A (p.Ala864Asp)
c.2477C>A (p.Ala826Asp)
c.1196C>A (p.Ala399Asp)
c.2546C>A (p.Ala849Asp)
c.2464-1506C>A (n.2464-1506C>A)
c.2537C>A (p.Ala846Asp)
c.1838C>A (p.Ala613Asp)
c.2585C>A (p.Ala862Asp)
16g.3770860C>ACA394551563CREBBPc.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
16g.3770860C>GCA394551565CREBBPc.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
16g.3770860C>TCA394551567CREBBPc.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
16g.3770861A>CCA493395113CREBBPc.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
16g.3770861A>GCA493395114CREBBPc.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
16g.3770861A>TCA493395116CREBBPc.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
16g.3770862G>ACA394551568CREBBPc.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
16g.3770862G>CCA394551570CREBBPc.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
16g.3770862G>TCA394551572CREBBPc.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)
16g.3770863C>ACA394551574CREBBPc.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)
16g.3770863C>GCA394551577CREBBPc.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)
16g.3770863C>TCA394551575CREBBPc.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
16g.3770864C>ACA493395118CREBBPc.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
16g.3770864C=CA2202950929CREBBPc.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=)
16g.3770864C>GCA493395119CREBBPc.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
16g.3770864C>TCA493395121CREBBPc.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
16g.3770865G>ACA7870071CREBBPc.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
16g.3770865G>CCA394551580CREBBPc.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
16g.3770865G=CA2202950931CREBBPc.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=)
16g.3770865G>TCA394551582CREBBPc.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)
16g.3770866T>ACA394551584CREBBPc.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
16g.3770866T>CCA394551585CREBBPc.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)
16g.3770866T>GCA394551587CREBBPc.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)
16g.3770867G>ACA493395124CREBBPc.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
16g.3770867G>CCA493395126CREBBPc.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
16g.3770867G>TCA493395128CREBBPc.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=)
16g.3770868G>ACA276969106CREBBPc.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
16g.3770868G>CCA394551589CREBBPc.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
16g.3770868G=CA2202950934CREBBPc.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=)
16g.3770868G>TCA394551591CREBBPc.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
16g.3770869A>CCA394551592CREBBPc.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)
16g.3770869A>GCA394551594CREBBPc.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
16g.3770869A>TCA394551596CREBBPc.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
16g.3770870A>CCA493395131CREBBPc.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=)
16g.3770870A>GCA493395135CREBBPc.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
16g.3770870A>TCA493395133CREBBPc.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
16g.3770871G>ACA7870072CREBBPc.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
16g.3770871G>CCA394551599CREBBPc.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
16g.3770871G=CA2202950937CREBBPc.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=)
16g.3770871G>TCA394551597CREBBPc.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
16g.3770872C>ACA394551606CREBBPc.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
16g.3770872C>GCA394551602CREBBPc.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
16g.3770872C>TCA394551604CREBBPc.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
16g.3770873A=CA2202950941CREBBPc.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=)
16g.3770873A>CCA493395137CREBBPc.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=)
16g.3770873A>GCA276969111CREBBPc.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
16g.3770873A>TCA493395138CREBBPc.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
16g.3770874G>ACA394551608CREBBPc.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
16g.3770874G>CCA394551609CREBBPc.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
16g.3770874G=CA2202950943CREBBPc.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=)
16g.3770874G>TCA394551611CREBBPc.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)
16g.3770875G>ACA7870073CREBBPc.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
16g.3770875G>CCA394551614CREBBPc.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
16g.3770875G=CA2202950945CREBBPc.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=)
16g.3770875G>TCA394551616CREBBPc.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)
16g.3770876A=CA2202950947CREBBPc.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=)
16g.3770876A>CCA493394868CREBBPc.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=)
16g.3770876A>GCA493394871CREBBPc.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
16g.3770876A>TCA493394873CREBBPc.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
16g.3770876dupCA1139770976CREBBPc.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
16g.3770877G>ACA394551619CREBBPc.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
16g.3770877G>CCA394551620CREBBPc.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
16g.3770877G>TCA394551621CREBBPc.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)
16g.3770878G>ACA158170CREBBPc.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
16g.3770878G>CCA394551625CREBBPc.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
16g.3770878G=CA2202950951CREBBPc.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=)
16g.3770878G>TCA394551623CREBBPc.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)
16g.3770879C>ACA7870075CREBBPc.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
16g.3770879C=CA2202950955CREBBPc.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=)
16g.3770879C>GCA493394877CREBBPc.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
16g.3770879C>TCA7870074CREBBPc.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
16g.3770880G>ACA7870076CREBBPc.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
16g.3770880G>CCA276969127CREBBPc.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
16g.3770880G=CA2202950960CREBBPc.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=)
16g.3770880G>TCA394551630CREBBPc.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
16g.3770881G>ACA394551636CREBBPc.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
16g.3770881G>CCA394551632CREBBPc.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
16g.3770881G=CA2202950965CREBBPc.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=)
16g.3770881G>TCA394551634CREBBPc.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
16g.3770882T>ACA7870078CREBBPc.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
16g.3770882T>CCA7870077CREBBPc.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
16g.3770882T>GCA493394879CREBBPc.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
16g.3770882T=CA2202950968CREBBPc.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=)
16g.3770883G>ACA394551640CREBBPc.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
16g.3770883G>CCA394551641CREBBPc.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
16g.3770883G>TCA394551643CREBBPc.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)
16g.3770884T>ACA394551648CREBBPc.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)
16g.3770884T>CCA7870079CREBBPc.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
16g.3770884T>GCA394551645CREBBPc.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
16g.3770884T=CA2202950970CREBBPc.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=)
16g.3770885T>ACA493394880CREBBPc.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=)
16g.3770885T>CCA493394881CREBBPc.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=)
16g.3770885T>GCA493394882CREBBPc.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=)
16g.3770886G>ACA7870080CREBBPc.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
16g.3770886G>CCA394551651CREBBPc.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
16g.3770886G=CA2202950972CREBBPc.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=)
16g.3770886G>TCA394551652CREBBPc.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
16g.3770887G>ACA394551655CREBBPc.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
16g.3770887G>CCA394551656CREBBPc.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
16g.3770887G>TCA394551658CREBBPc.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
16g.3770888G>ACA493394884CREBBPc.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
16g.3770888G>CCA276969134CREBBPc.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
16g.3770888G=CA2202950976CREBBPc.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=)
16g.3770888G>TCA394551660CREBBPc.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)
16g.3770889T>ACA394551663CREBBPc.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
16g.3770889T>CCA394551665CREBBPc.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)
16g.3770889T>GCA7870081CREBBPc.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
16g.3770889T=CA2202950978CREBBPc.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=)
16g.3770890G>ACA394551668CREBBPc.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
16g.3770890G>CCA394551670CREBBPc.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
16g.3770890G=CA2202950980CREBBPc.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=)
16g.3770890G>TCA394551672CREBBPc.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)
16g.3770891C>ACA493394889CREBBPc.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
16g.3770891C>GCA493394890CREBBPc.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
16g.3770891C>TCA493394888CREBBPc.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
16g.3770892A=CA2202950984CREBBPc.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=)
16g.3770892A>CCA276969144CREBBPc.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
16g.3770892A>GCA394551677CREBBPc.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
16g.3770892A>TCA394551675CREBBPc.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
16g.3770893G>ACA493394891CREBBPc.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
16g.3770893G>CCA7870082CREBBPc.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
16g.3770893G=CA2202950987CREBBPc.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=)
16g.3770893G>TCA394551680CREBBPc.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
16g.3770896_3770898dupCA2631426325CREBBPc.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
16g.3770894T>ACA493394893CREBBPc.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=)
16g.3770894T>CCA7870083CREBBPc.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
16g.3770894T>GCA493394892CREBBPc.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
16g.3770894T=CA2202950993CREBBPc.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=)
16g.3770895G>ACA394551683CREBBPc.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
16g.3770895G>CCA394551685CREBBPc.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
16g.3770895G>TCA394551687CREBBPc.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)
16g.3770896G>ACA394551688CREBBPc.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
16g.3770896G>CCA7870084CREBBPc.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
16g.3770896G=CA2202950996CREBBPc.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=)
16g.3770896G>TCA394551691CREBBPc.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
16g.3770897T>ACA493394895CREBBPc.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
16g.3770897T>CCA493394897CREBBPc.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
16g.3770897T>GCA493394896CREBBPc.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
16g.3770897T=CA2202950999CREBBPc.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=)
16g.3770898G>ACA394551693CREBBPc.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
16g.3770898G>CCA394551694CREBBPc.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
16g.3770898G>TCA394551695CREBBPc.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
16g.3770899A>CCA394551699CREBBPc.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
16g.3770899A>GCA394551701CREBBPc.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
16g.3770899A>TCA394551698CREBBPc.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
16g.3770900C>ACA394551705CREBBPc.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
16g.3770900C=CA2202951005CREBBPc.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=)
16g.3770900C>GCA7870085CREBBPc.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
16g.3770900C>TCA7870086CREBBPc.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
16g.3770900_3770902delinsCTGCA2202951003CREBBPc.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=)
16g.3770901T>ACA394551707CREBBPc.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
16g.3770901T>CCA394551709CREBBPc.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
16g.3770901T>GCA394551711CREBBPc.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
16g.3770901T=CA2202951010CREBBPc.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=)
16g.3770904_3770905delCA2202951008CREBBPc.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
16g.3770902G>ACA394551717CREBBPc.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
16g.3770902G>CCA394551715CREBBPc.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
16g.3770902G=CA2202951013CREBBPc.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=)
16g.3770902G>TCA394551713CREBBPc.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)
16g.3770903T>ACA493394902CREBBPc.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
16g.3770903T>CCA493394904CREBBPc.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
16g.3770903T>GCA493394906CREBBPc.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
16g.3770903T=CA2202951015CREBBPc.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=)
16g.3770904G>ACA394551719CREBBPc.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)
16g.3770904G>CCA394551721CREBBPc.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)
16g.3770904G>TCA394551723CREBBPc.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)
16g.3770905T>ACA394551725CREBBPc.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
16g.3770905T>CCA394551727CREBBPc.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
16g.3770905T>GCA394551729CREBBPc.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
16g.3770905T=CA2202951018CREBBPc.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=)
16g.3770906C>ACA493394907CREBBPc.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=)
16g.3770906C>GCA493394908CREBBPc.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=)
16g.3770906C>TCA493394909CREBBPc.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=)
16g.3770907A>CCA394551735CREBBPc.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
16g.3770907A>GCA394551731CREBBPc.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
16g.3770907A>TCA394551733CREBBPc.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
16g.3770908C>ACA394551737CREBBPc.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
16g.3770908C=CA2202951020CREBBPc.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=)
16g.3770908C>GCA394551739CREBBPc.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
16g.3770908C>TCA394551741CREBBPc.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
16g.3770909T>ACA7870087CREBBPc.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
16g.3770909T>CCA493394911CREBBPc.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
16g.3770909T>GCA493394912CREBBPc.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=)
16g.3770909T=CA2202951022CREBBPc.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=)
16g.3770910G>ACA394551743CREBBPc.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
16g.3770910G>CCA394551745CREBBPc.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
16g.3770910G>TCA394551747CREBBPc.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
16g.3770911G>ACA394551748CREBBPc.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
16g.3770911G>CCA394551750CREBBPc.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
16g.3770911G=CA2202951027CREBBPc.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=)
16g.3770911G>TCA158168CREBBPc.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
16g.3770912A>CCA493394913CREBBPc.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=)
16g.3770912A>GCA493394917CREBBPc.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=)
16g.3770912A>TCA493394915CREBBPc.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
16g.3770913G>ACA7870089CREBBPc.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
16g.3770913G>CCA7870088CREBBPc.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
16g.3770913G=CA2202951032CREBBPc.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=)
16g.3770913G>TCA394551755CREBBPc.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
16g.3770914G>ACA394551757CREBBPc.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)
16g.3770914G>CCA394551761CREBBPc.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)
16g.3770914G>TCA394551759CREBBPc.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)
16g.3770915G>ACA493394919CREBBPc.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
16g.3770915G>CCA394551763CREBBPc.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
16g.3770915G=CA2202951036CREBBPc.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=)
16g.3770915G>TCA271372CREBBPc.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
16g.3770916C>ACA394551766CREBBPc.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
16g.3770916C>GCA394551767CREBBPc.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
16g.3770916C>TCA394551768CREBBPc.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
16g.3770917A>CCA394551772CREBBPc.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
16g.3770917A>GCA394551771CREBBPc.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
16g.3770917A>TCA394551770CREBBPc.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)
16g.3770918A>CCA493394923CREBBPc.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
16g.3770918A>GCA493394924CREBBPc.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
16g.3770918A>TCA493394925CREBBPc.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
16g.3770919G>ACA394551774CREBBPc.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
16g.3770919G>CCA394551776CREBBPc.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
16g.3770919G>TCA394551777CREBBPc.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
16g.3770920G>ACA394551779CREBBPc.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
16g.3770920G>CCA394551781CREBBPc.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
16g.3770920G=CA2202951044CREBBPc.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=)
16g.3770920G>TCA394551783CREBBPc.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)
16g.3770921T>ACA493394926CREBBPc.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
16g.3770921T>CCA493394928CREBBPc.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
16g.3770921T>GCA493394930CREBBPc.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
16g.3770921T=CA2202951047CREBBPc.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=)
16g.3770922_3770925dupCA2580091136CREBBPc.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
16g.3770922A>CCA394551785CREBBPc.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)
16g.3770922A>GCA394551789CREBBPc.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
16g.3770922A>TCA394551787CREBBPc.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
16g.3770923delCA2695222752CREBBPc.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)
16g.3770923G>ACA493394932CREBBPc.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
16g.3770923G>CCA7870090CREBBPc.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
16g.3770923G=CA2202951049CREBBPc.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=)
16g.3770923G>TCA394551792CREBBPc.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)
16g.3770924C>ACA394551794CREBBPc.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)
16g.3770924C=CA2202951051CREBBPc.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=)
16g.3770924C>GCA394551796CREBBPc.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
16g.3770924C>TCA233867CREBBPc.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
16g.3770925T>ACA394551799CREBBPc.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)
16g.3770925T>CCA394551800CREBBPc.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)
16g.3770925T>GCA276969162CREBBPc.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
16g.3770925T=CA2202951054CREBBPc.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=)
16g.3770926G>ACA394551802CREBBPc.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
16g.3770926G>CCA394551805CREBBPc.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)
16g.3770926G>TCA394551807CREBBPc.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
16g.3770927G>ACA493394936CREBBPc.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
16g.3770927G>CCA394551811CREBBPc.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
16g.3770927G=CA2202951057CREBBPc.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=)
16g.3770927G>TCA394551809CREBBPc.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
16g.3770928C>ACA394551813CREBBPc.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
16g.3770928C>GCA394551814CREBBPc.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
16g.3770928C>TCA394551815CREBBPc.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
16g.3770929T>ACA394551818CREBBPc.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
16g.3770929T>CCA394551820CREBBPc.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)
16g.3770929T>GCA394551821CREBBPc.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)
16g.3770930G>ACA7870091CREBBPc.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
16g.3770930G>CCA493394937CREBBPc.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=)
16g.3770930G=CA2202951060CREBBPc.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=)
16g.3770930G>TCA493394938CREBBPc.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
16g.3770931G>ACA394551827CREBBPc.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
16g.3770931G>CCA394551824CREBBPc.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
16g.3770931G>TCA394551825CREBBPc.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
16g.3770932C>ACA394551829CREBBPc.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
16g.3770932C=CA2202951063CREBBPc.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=)
16g.3770932C>GCA394551831CREBBPc.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
16g.3770932C>TCA394551832CREBBPc.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
16g.3770933C>ACA394551834CREBBPc.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
16g.3770933C>GCA394551836CREBBPc.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
16g.3770933C>TCA493394942CREBBPc.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
16g.3770934T>ACA394551841CREBBPc.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
16g.3770934T>CCA394551838CREBBPc.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
16g.3770934T>GCA394551840CREBBPc.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
16g.3770935G>ACA394551843CREBBPc.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
16g.3770935G>CCA394551845CREBBPc.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
16g.3770935G>TCA394551847CREBBPc.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)
16g.3770935_3770941delCA645593155CREBBPc.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
16g.3770936A>CCA493394944CREBBPc.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
16g.3770936A>GCA493394946CREBBPc.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
16g.3770936A>TCA493394948CREBBPc.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
16g.3770936_3770937insTGGCCA2695222753CREBBPc.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?)
16g.3770937G>ACA394551849CREBBPc.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)
16g.3770937G>CCA394551851CREBBPc.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
16g.3770937G>TCA394551853CREBBPc.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
16g.3770938G>ACA394551855CREBBPc.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
16g.3770938G>CCA394551856CREBBPc.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
16g.3770938G>TCA394551858CREBBPc.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
16g.3770939C>ACA7870092CREBBPc.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
16g.3770939C=CA2202951066CREBBPc.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=)
16g.3770939C>GCA493394949CREBBPc.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
16g.3770939C>TCA493394950CREBBPc.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
16g.3770942delCA645593156CREBBPc.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
16g.3770940C>ACA394551862CREBBPc.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
16g.3770940C>GCA394551863CREBBPc.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
16g.3770940C>TCA394551865CREBBPc.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
16g.3770940_3770941insAGCA2575894233CREBBPc.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)
16g.3770941C>ACA394551871CREBBPc.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
16g.3770941C>GCA394551867CREBBPc.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
16g.3770941C>TCA394551869CREBBPc.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
16g.3770942C>ACA493394953CREBBPc.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
16g.3770942C>GCA493394954CREBBPc.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
16g.3770942C>TCA493394955CREBBPc.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
16g.3770943A=CA2202951071CREBBPc.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=)
16g.3770943A>CCA394551872CREBBPc.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)
16g.3770943A>GCA394551873CREBBPc.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
16g.3770943A>TCA394551876CREBBPc.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
16g.3770944G>ACA493394956CREBBPc.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
16g.3770944G>CCA394551878CREBBPc.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
16g.3770944G=CA2202951074CREBBPc.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=)
16g.3770944G>TCA394551879CREBBPc.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
16g.3770945C>ACA7870093CREBBPc.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
16g.3770945C=CA2202951080CREBBPc.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=)
16g.3770945C>GCA394551884CREBBPc.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
16g.3770945C>TCA394551882CREBBPc.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
16g.3770946A=CA2202951083CREBBPc.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=)
16g.3770946A>CCA394551887CREBBPc.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)
16g.3770946A>GCA394551889CREBBPc.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
16g.3770946A>TCA394551891CREBBPc.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
16g.3770947T>ACA394551893CREBBPc.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
16g.3770947T>CCA7870094CREBBPc.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
16g.3770947T>GCA394551896CREBBPc.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)
16g.3770947T=CA2202951087CREBBPc.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=)
16g.3770948G>ACA7870095CREBBPc.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
16g.3770948G>CCA394551898CREBBPc.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
16g.3770948G=CA2202951089CREBBPc.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=)
16g.3770948G>TCA394551900CREBBPc.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)
16g.3770949T>ACA394551903CREBBPc.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
16g.3770949T>CCA394551905CREBBPc.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
16g.3770949T>GCA394551906CREBBPc.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
16g.3770949T=CA2202951092CREBBPc.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=)
16g.3770950T>ACA394551907CREBBPc.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)
16g.3770950T>CCA394551908CREBBPc.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)
16g.3770950T>GCA394551909CREBBPc.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)
16g.3770951G>ACA493394960CREBBPc.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
16g.3770951G>CCA493394961CREBBPc.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
16g.3770951G=CA2202951096CREBBPc.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=)
16g.3770951G>TCA493394962CREBBPc.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=)
16g.3770954_3770955delCA645593157CREBBPc.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
16g.3770952A>CCA394551911CREBBPc.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)
16g.3770952A>GCA394551913CREBBPc.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
16g.3770952A>TCA394551915CREBBPc.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
16g.3770953G>ACA276969181CREBBPc.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
16g.3770953G>CCA394551917CREBBPc.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)
16g.3770953G=CA2202951100CREBBPc.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=)
16g.3770953G>TCA394551919CREBBPc.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)
16g.3770953dupCA2695222754CREBBPc.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?)
16g.3770953_3770959delCA645593158CREBBPc.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
16g.3770954A>CCA493394965CREBBPc.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=)
16g.3770954A>GCA493394966CREBBPc.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=)
16g.3770954A>TCA493394964CREBBPc.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=)

Number of alleles fetched