Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3770671T>ACA394550804CREBBPc.2779A>T (p.Thr927Ser)
c.2665A>T (p.Thr889Ser)
c.1384A>T (p.Thr462Ser)
n.33A>T
c.2734A>T (p.Thr912Ser)
c.2464-1318A>T (n.2464-1318A>T)
c.2725A>T (p.Thr909Ser)
c.2026A>T (p.Thr676Ser)
c.2773A>T (p.Thr925Ser)
 dbSNP
16g.3770671T>CCA394550806CREBBPc.2779A>G (p.Thr927Ala)
c.2665A>G (p.Thr889Ala)
c.1384A>G (p.Thr462Ala)
n.33A>G
c.2734A>G (p.Thr912Ala)
c.2464-1318A>G (n.2464-1318A>G)
c.2725A>G (p.Thr909Ala)
c.2026A>G (p.Thr676Ala)
c.2773A>G (p.Thr925Ala)
 dbSNP
16g.3770671T>GCA394550807CREBBPc.2779A>C (p.Thr927Pro)
c.2665A>C (p.Thr889Pro)
c.1384A>C (p.Thr462Pro)
n.33A>C
c.2734A>C (p.Thr912Pro)
c.2464-1318A>C (n.2464-1318A>C)
c.2725A>C (p.Thr909Pro)
c.2026A>C (p.Thr676Pro)
c.2773A>C (p.Thr925Pro)
 dbSNP gnomAD v4
16g.3770671T=CA2202950826CREBBPc.2779A= (p.Thr927=)
c.2665A= (p.Thr889=)
c.1384A= (p.Thr462=)
n.33A=
c.2734A= (p.Thr912=)
c.2464-1318A= (n.2464-1318A=)
c.2725A= (p.Thr909=)
c.2026A= (p.Thr676=)
c.2773A= (p.Thr925=)
16g.3770671_3770677delinsTCACCTGCA2202950825CREBBPc.2773_2779delinsCAGGTGA (p.Gln925=)
c.2659_2665delinsCAGGTGA (p.Gln887=)
c.1378_1384delinsCAGGTGA (p.Gln460=)
n.27_33delinsCAGGTGA
c.2728_2734delinsCAGGTGA (p.Gln910=)
c.2464-1324_2464-1318delinsCAGGTGA (n.2464-1324_2464-1318delinsCAGGTGA)
c.2719_2725delinsCAGGTGA (p.Gln907=)
c.2020_2026delinsCAGGTGA (p.Gln674=)
c.2767_2773delinsCAGGTGA (p.Gln923=)
16g.3770672C>ACA493394807CREBBPc.2778G>T (p.Val926=)
c.2664G>T (p.Val888=)
c.1383G>T (p.Val461=)
n.32G>T
c.2733G>T (p.Val911=)
c.2464-1319G>T (n.2464-1319G>T)
c.2724G>T (p.Val908=)
c.2025G>T (p.Val675=)
c.2772G>T (p.Val924=)
 ClinVar dbSNP
16g.3770672C=CA2202950827CREBBPc.2778G= (p.Val926=)
c.2664G= (p.Val888=)
c.1383G= (p.Val461=)
n.32G=
c.2733G= (p.Val911=)
c.2464-1319G= (n.2464-1319G=)
c.2724G= (p.Val908=)
c.2025G= (p.Val675=)
c.2772G= (p.Val924=)
16g.3770672C>GCA493394809CREBBPc.2778G>C (p.Val926=)
c.2664G>C (p.Val888=)
c.1383G>C (p.Val461=)
n.32G>C
c.2733G>C (p.Val911=)
c.2464-1319G>C (n.2464-1319G>C)
c.2724G>C (p.Val908=)
c.2025G>C (p.Val675=)
c.2772G>C (p.Val924=)
 dbSNP
16g.3770672C>TCA493394811CREBBPc.2778G>A (p.Val926=)
c.2664G>A (p.Val888=)
c.1383G>A (p.Val461=)
n.32G>A
c.2733G>A (p.Val911=)
c.2464-1319G>A (n.2464-1319G>A)
c.2724G>A (p.Val908=)
c.2025G>A (p.Val675=)
c.2772G>A (p.Val924=)
 dbSNP gnomAD v2 gnomAD v4
16g.3770672_3770677delCA7870040CREBBPc.2773_2778del (p.Gln925_Val926del)
c.2659_2664del (p.Gln887_Val888del)
c.1378_1383del (p.Gln460_Val461del)
n.27_32del
c.2728_2733del (p.Gln910_Val911del)
c.2464-1324_2464-1319del (n.2464-1324_2464-1319del)
c.2719_2724del (p.Gln907_Val908del)
c.2020_2025del (p.Gln674_Val675del)
c.2767_2772del (p.Gln923_Val924del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770673A>CCA394550811CREBBPc.2777T>G (p.Val926Gly)
c.2663T>G (p.Val888Gly)
c.1382T>G (p.Val461Gly)
n.31T>G
c.2732T>G (p.Val911Gly)
c.2464-1320T>G (n.2464-1320T>G)
c.2723T>G (p.Val908Gly)
c.2024T>G (p.Val675Gly)
c.2771T>G (p.Val924Gly)
16g.3770673A>GCA394550810CREBBPc.2777T>C (p.Val926Ala)
c.2663T>C (p.Val888Ala)
c.1382T>C (p.Val461Ala)
n.31T>C
c.2732T>C (p.Val911Ala)
c.2464-1320T>C (n.2464-1320T>C)
c.2723T>C (p.Val908Ala)
c.2024T>C (p.Val675Ala)
c.2771T>C (p.Val924Ala)
16g.3770673A>TCA394550814CREBBPc.2777T>A (p.Val926Glu)
c.2663T>A (p.Val888Glu)
c.1382T>A (p.Val461Glu)
n.31T>A
c.2732T>A (p.Val911Glu)
c.2464-1320T>A (n.2464-1320T>A)
c.2723T>A (p.Val908Glu)
c.2024T>A (p.Val675Glu)
c.2771T>A (p.Val924Glu)
16g.3770674C>ACA394550816CREBBPc.2776G>T (p.Val926Leu)
c.2662G>T (p.Val888Leu)
c.1381G>T (p.Val461Leu)
n.30G>T
c.2731G>T (p.Val911Leu)
c.2464-1321G>T (n.2464-1321G>T)
c.2722G>T (p.Val908Leu)
c.2023G>T (p.Val675Leu)
c.2770G>T (p.Val924Leu)
 dbSNP
16g.3770674C=CA2202950828CREBBPc.2776G= (p.Val926=)
c.2662G= (p.Val888=)
c.1381G= (p.Val461=)
n.30G=
c.2731G= (p.Val911=)
c.2464-1321G= (n.2464-1321G=)
c.2722G= (p.Val908=)
c.2023G= (p.Val675=)
c.2770G= (p.Val924=)
16g.3770674C>GCA394550819CREBBPc.2776G>C (p.Val926Leu)
c.2662G>C (p.Val888Leu)
c.1381G>C (p.Val461Leu)
n.30G>C
c.2731G>C (p.Val911Leu)
c.2464-1321G>C (n.2464-1321G>C)
c.2722G>C (p.Val908Leu)
c.2023G>C (p.Val675Leu)
c.2770G>C (p.Val924Leu)
 dbSNP
16g.3770674C>TCA7870041CREBBPc.2776G>A (p.Val926Met)
c.2662G>A (p.Val888Met)
c.1381G>A (p.Val461Met)
n.30G>A
c.2731G>A (p.Val911Met)
c.2464-1321G>A (n.2464-1321G>A)
c.2722G>A (p.Val908Met)
c.2023G>A (p.Val675Met)
c.2770G>A (p.Val924Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770675C>ACA394550821CREBBPc.2775G>T (p.Gln925His)
c.2661G>T (p.Gln887His)
c.1380G>T (p.Gln460His)
n.29G>T
c.2730G>T (p.Gln910His)
c.2464-1322G>T (n.2464-1322G>T)
c.2721G>T (p.Gln907His)
c.2022G>T (p.Gln674His)
c.2769G>T (p.Gln923His)
 dbSNP
16g.3770675C=CA2202950829CREBBPc.2775G= (p.Gln925=)
c.2661G= (p.Gln887=)
c.1380G= (p.Gln460=)
n.29G=
c.2730G= (p.Gln910=)
c.2464-1322G= (n.2464-1322G=)
c.2721G= (p.Gln907=)
c.2022G= (p.Gln674=)
c.2769G= (p.Gln923=)
16g.3770675C>GCA394550822CREBBPc.2775G>C (p.Gln925His)
c.2661G>C (p.Gln887His)
c.1380G>C (p.Gln460His)
n.29G>C
c.2730G>C (p.Gln910His)
c.2464-1322G>C (n.2464-1322G>C)
c.2721G>C (p.Gln907His)
c.2022G>C (p.Gln674His)
c.2769G>C (p.Gln923His)
 dbSNP
16g.3770675C>TCA493394814CREBBPc.2775G>A (p.Gln925=)
c.2661G>A (p.Gln887=)
c.1380G>A (p.Gln460=)
n.29G>A
c.2730G>A (p.Gln910=)
c.2464-1322G>A (n.2464-1322G>A)
c.2721G>A (p.Gln907=)
c.2022G>A (p.Gln674=)
c.2769G>A (p.Gln923=)
 dbSNP gnomAD v2 gnomAD v4
16g.3770676T>ACA394550825CREBBPc.2774A>T (p.Gln925Leu)
c.2660A>T (p.Gln887Leu)
c.1379A>T (p.Gln460Leu)
n.28A>T
c.2729A>T (p.Gln910Leu)
c.2464-1323A>T (n.2464-1323A>T)
c.2720A>T (p.Gln907Leu)
c.2021A>T (p.Gln674Leu)
c.2768A>T (p.Gln923Leu)
 gnomAD v4
16g.3770676T>CCA394550827CREBBPc.2774A>G (p.Gln925Arg)
c.2660A>G (p.Gln887Arg)
c.1379A>G (p.Gln460Arg)
n.28A>G
c.2729A>G (p.Gln910Arg)
c.2464-1323A>G (n.2464-1323A>G)
c.2720A>G (p.Gln907Arg)
c.2021A>G (p.Gln674Arg)
c.2768A>G (p.Gln923Arg)
16g.3770676T>GCA394550828CREBBPc.2774A>C (p.Gln925Pro)
c.2660A>C (p.Gln887Pro)
c.1379A>C (p.Gln460Pro)
n.28A>C
c.2729A>C (p.Gln910Pro)
c.2464-1323A>C (n.2464-1323A>C)
c.2720A>C (p.Gln907Pro)
c.2021A>C (p.Gln674Pro)
c.2768A>C (p.Gln923Pro)
16g.3770677G>ACA394550831CREBBPc.2773C>T (p.Gln925Ter)
c.2659C>T (p.Gln887Ter)
c.1378C>T (p.Gln460Ter)
n.27C>T
c.2728C>T (p.Gln910Ter)
c.2464-1324C>T (n.2464-1324C>T)
c.2719C>T (p.Gln907Ter)
c.2020C>T (p.Gln674Ter)
c.2767C>T (p.Gln923Ter)
 ClinVar dbSNP
16g.3770677G>CCA394550833CREBBPc.2773C>G (p.Gln925Glu)
c.2659C>G (p.Gln887Glu)
c.1378C>G (p.Gln460Glu)
n.27C>G
c.2728C>G (p.Gln910Glu)
c.2464-1324C>G (n.2464-1324C>G)
c.2719C>G (p.Gln907Glu)
c.2020C>G (p.Gln674Glu)
c.2767C>G (p.Gln923Glu)
 dbSNP
16g.3770677G=CA2202950830CREBBPc.2773C= (p.Gln925=)
c.2659C= (p.Gln887=)
c.1378C= (p.Gln460=)
n.27C=
c.2728C= (p.Gln910=)
c.2464-1324C= (n.2464-1324C=)
c.2719C= (p.Gln907=)
c.2020C= (p.Gln674=)
c.2767C= (p.Gln923=)
16g.3770677G>TCA394550834CREBBPc.2773C>A (p.Gln925Lys)
c.2659C>A (p.Gln887Lys)
c.1378C>A (p.Gln460Lys)
n.27C>A
c.2728C>A (p.Gln910Lys)
c.2464-1324C>A (n.2464-1324C>A)
c.2719C>A (p.Gln907Lys)
c.2020C>A (p.Gln674Lys)
c.2767C>A (p.Gln923Lys)
 dbSNP
16g.3770678G>ACA493394826CREBBPc.2772C>T (p.Ala924=)
c.2658C>T (p.Ala886=)
c.1377C>T (p.Ala459=)
n.26C>T
c.2727C>T (p.Ala909=)
c.2464-1325C>T (n.2464-1325C>T)
c.2718C>T (p.Ala906=)
c.2019C>T (p.Ala673=)
c.2766C>T (p.Ala922=)
 dbSNP gnomAD v4
16g.3770678G>CCA493394827CREBBPc.2772C>G (p.Ala924=)
c.2658C>G (p.Ala886=)
c.1377C>G (p.Ala459=)
n.26C>G
c.2727C>G (p.Ala909=)
c.2464-1325C>G (n.2464-1325C>G)
c.2718C>G (p.Ala906=)
c.2019C>G (p.Ala673=)
c.2766C>G (p.Ala922=)
 dbSNP
16g.3770678G>TCA493394828CREBBPc.2772C>A (p.Ala924=)
c.2658C>A (p.Ala886=)
c.1377C>A (p.Ala459=)
n.26C>A
c.2727C>A (p.Ala909=)
c.2464-1325C>A (n.2464-1325C>A)
c.2718C>A (p.Ala906=)
c.2019C>A (p.Ala673=)
c.2766C>A (p.Ala922=)
 dbSNP
16g.3770679G>ACA394550835CREBBPc.2771C>T (p.Ala924Val)
c.2657C>T (p.Ala886Val)
c.1376C>T (p.Ala459Val)
n.25C>T
c.2726C>T (p.Ala909Val)
c.2464-1326C>T (n.2464-1326C>T)
c.2717C>T (p.Ala906Val)
c.2018C>T (p.Ala673Val)
c.2765C>T (p.Ala922Val)
 dbSNP gnomAD v4
16g.3770679G>CCA394550837CREBBPc.2771C>G (p.Ala924Gly)
c.2657C>G (p.Ala886Gly)
c.1376C>G (p.Ala459Gly)
n.25C>G
c.2726C>G (p.Ala909Gly)
c.2464-1326C>G (n.2464-1326C>G)
c.2717C>G (p.Ala906Gly)
c.2018C>G (p.Ala673Gly)
c.2765C>G (p.Ala922Gly)
 dbSNP
16g.3770679G>TCA394550839CREBBPc.2771C>A (p.Ala924Asp)
c.2657C>A (p.Ala886Asp)
c.1376C>A (p.Ala459Asp)
n.25C>A
c.2726C>A (p.Ala909Asp)
c.2464-1326C>A (n.2464-1326C>A)
c.2717C>A (p.Ala906Asp)
c.2018C>A (p.Ala673Asp)
c.2765C>A (p.Ala922Asp)
 dbSNP
16g.3770680C>ACA394550841CREBBPc.2770G>T (p.Ala924Ser)
c.2656G>T (p.Ala886Ser)
c.1375G>T (p.Ala459Ser)
n.24G>T
c.2725G>T (p.Ala909Ser)
c.2464-1327G>T (n.2464-1327G>T)
c.2716G>T (p.Ala906Ser)
c.2017G>T (p.Ala673Ser)
c.2764G>T (p.Ala922Ser)
 dbSNP
16g.3770680C>GCA394550843CREBBPc.2770G>C (p.Ala924Pro)
c.2656G>C (p.Ala886Pro)
c.1375G>C (p.Ala459Pro)
n.24G>C
c.2725G>C (p.Ala909Pro)
c.2464-1327G>C (n.2464-1327G>C)
c.2716G>C (p.Ala906Pro)
c.2017G>C (p.Ala673Pro)
c.2764G>C (p.Ala922Pro)
 dbSNP
16g.3770680C>TCA394550845CREBBPc.2770G>A (p.Ala924Thr)
c.2656G>A (p.Ala886Thr)
c.1375G>A (p.Ala459Thr)
n.24G>A
c.2725G>A (p.Ala909Thr)
c.2464-1327G>A (n.2464-1327G>A)
c.2716G>A (p.Ala906Thr)
c.2017G>A (p.Ala673Thr)
c.2764G>A (p.Ala922Thr)
 dbSNP
16g.3770681C>ACA394550848CREBBPc.2769G>T (p.Gln923His)
c.2655G>T (p.Gln885His)
c.1374G>T (p.Gln458His)
n.23G>T
c.2724G>T (p.Gln908His)
c.2464-1328G>T (n.2464-1328G>T)
c.2715G>T (p.Gln905His)
c.2016G>T (p.Gln672His)
c.2763G>T (p.Gln921His)
 dbSNP
16g.3770681C=CA2202950831CREBBPc.2769G= (p.Gln923=)
c.2655G= (p.Gln885=)
c.1374G= (p.Gln458=)
n.23G=
c.2724G= (p.Gln908=)
c.2464-1328G= (n.2464-1328G=)
c.2715G= (p.Gln905=)
c.2016G= (p.Gln672=)
c.2763G= (p.Gln921=)
16g.3770681C>GCA276969023CREBBPc.2769G>C (p.Gln923His)
c.2655G>C (p.Gln885His)
c.1374G>C (p.Gln458His)
n.23G>C
c.2724G>C (p.Gln908His)
c.2464-1328G>C (n.2464-1328G>C)
c.2715G>C (p.Gln905His)
c.2016G>C (p.Gln672His)
c.2763G>C (p.Gln921His)
 dbSNP
16g.3770681C>TCA493394835CREBBPc.2769G>A (p.Gln923=)
c.2655G>A (p.Gln885=)
c.1374G>A (p.Gln458=)
n.23G>A
c.2724G>A (p.Gln908=)
c.2464-1328G>A (n.2464-1328G>A)
c.2715G>A (p.Gln905=)
c.2016G>A (p.Gln672=)
c.2763G>A (p.Gln921=)
 dbSNP gnomAD v4
16g.3770682T>ACA394550851CREBBPc.2768A>T (p.Gln923Leu)
c.2654A>T (p.Gln885Leu)
c.1373A>T (p.Gln458Leu)
n.22A>T
c.2723A>T (p.Gln908Leu)
c.2464-1329A>T (n.2464-1329A>T)
c.2714A>T (p.Gln905Leu)
c.2015A>T (p.Gln672Leu)
c.2762A>T (p.Gln921Leu)
16g.3770682T>CCA394550852CREBBPc.2768A>G (p.Gln923Arg)
c.2654A>G (p.Gln885Arg)
c.1373A>G (p.Gln458Arg)
n.22A>G
c.2723A>G (p.Gln908Arg)
c.2464-1329A>G (n.2464-1329A>G)
c.2714A>G (p.Gln905Arg)
c.2015A>G (p.Gln672Arg)
c.2762A>G (p.Gln921Arg)
 dbSNP
16g.3770682T>GCA394550854CREBBPc.2768A>C (p.Gln923Pro)
c.2654A>C (p.Gln885Pro)
c.1373A>C (p.Gln458Pro)
n.22A>C
c.2723A>C (p.Gln908Pro)
c.2464-1329A>C (n.2464-1329A>C)
c.2714A>C (p.Gln905Pro)
c.2015A>C (p.Gln672Pro)
c.2762A>C (p.Gln921Pro)
16g.3770682T=CA2202950832CREBBPc.2768A= (p.Gln923=)
c.2654A= (p.Gln885=)
c.1373A= (p.Gln458=)
n.22A=
c.2723A= (p.Gln908=)
c.2464-1329A= (n.2464-1329A=)
c.2714A= (p.Gln905=)
c.2015A= (p.Gln672=)
c.2762A= (p.Gln921=)
16g.3770683G>ACA394550855CREBBPc.2767C>T (p.Gln923Ter)
c.2653C>T (p.Gln885Ter)
c.1372C>T (p.Gln458Ter)
n.21C>T
c.2722C>T (p.Gln908Ter)
c.2464-1330C>T (n.2464-1330C>T)
c.2713C>T (p.Gln905Ter)
c.2014C>T (p.Gln672Ter)
c.2761C>T (p.Gln921Ter)
 dbSNP
16g.3770683G>CCA394550856CREBBPc.2767C>G (p.Gln923Glu)
c.2653C>G (p.Gln885Glu)
c.1372C>G (p.Gln458Glu)
n.21C>G
c.2722C>G (p.Gln908Glu)
c.2464-1330C>G (n.2464-1330C>G)
c.2713C>G (p.Gln905Glu)
c.2014C>G (p.Gln672Glu)
c.2761C>G (p.Gln921Glu)
 dbSNP
16g.3770683G>TCA394550857CREBBPc.2767C>A (p.Gln923Lys)
c.2653C>A (p.Gln885Lys)
c.1372C>A (p.Gln458Lys)
n.21C>A
c.2722C>A (p.Gln908Lys)
c.2464-1330C>A (n.2464-1330C>A)
c.2713C>A (p.Gln905Lys)
c.2014C>A (p.Gln672Lys)
c.2761C>A (p.Gln921Lys)
 dbSNP gnomAD v4
16g.3770684G>ACA493394844CREBBPc.2766C>T (p.Ala922=)
c.2652C>T (p.Ala884=)
c.1371C>T (p.Ala457=)
n.20C>T
c.2721C>T (p.Ala907=)
c.2464-1331C>T (n.2464-1331C>T)
c.2712C>T (p.Ala904=)
c.2013C>T (p.Ala671=)
c.2760C>T (p.Ala920=)
 dbSNP
16g.3770684G>CCA493394846CREBBPc.2766C>G (p.Ala922=)
c.2652C>G (p.Ala884=)
c.1371C>G (p.Ala457=)
n.20C>G
c.2721C>G (p.Ala907=)
c.2464-1331C>G (n.2464-1331C>G)
c.2712C>G (p.Ala904=)
c.2013C>G (p.Ala671=)
c.2760C>G (p.Ala920=)
 dbSNP gnomAD v2 gnomAD v4
16g.3770684G=CA2202950833CREBBPc.2766C= (p.Ala922=)
c.2652C= (p.Ala884=)
c.1371C= (p.Ala457=)
n.20C=
c.2721C= (p.Ala907=)
c.2464-1331C= (n.2464-1331C=)
c.2712C= (p.Ala904=)
c.2013C= (p.Ala671=)
c.2760C= (p.Ala920=)
16g.3770684G>TCA493394847CREBBPc.2766C>A (p.Ala922=)
c.2652C>A (p.Ala884=)
c.1371C>A (p.Ala457=)
n.20C>A
c.2721C>A (p.Ala907=)
c.2464-1331C>A (n.2464-1331C>A)
c.2712C>A (p.Ala904=)
c.2013C>A (p.Ala671=)
c.2760C>A (p.Ala920=)
 dbSNP
16g.3770685G>ACA394550859CREBBPc.2765C>T (p.Ala922Val)
c.2651C>T (p.Ala884Val)
c.1370C>T (p.Ala457Val)
n.19C>T
c.2720C>T (p.Ala907Val)
c.2464-1332C>T (n.2464-1332C>T)
c.2711C>T (p.Ala904Val)
c.2012C>T (p.Ala671Val)
c.2759C>T (p.Ala920Val)
 dbSNP
16g.3770685G>CCA394550861CREBBPc.2765C>G (p.Ala922Gly)
c.2651C>G (p.Ala884Gly)
c.1370C>G (p.Ala457Gly)
n.19C>G
c.2720C>G (p.Ala907Gly)
c.2464-1332C>G (n.2464-1332C>G)
c.2711C>G (p.Ala904Gly)
c.2012C>G (p.Ala671Gly)
c.2759C>G (p.Ala920Gly)
 dbSNP
16g.3770685G=CA2202950834CREBBPc.2765C= (p.Ala922=)
c.2651C= (p.Ala884=)
c.1370C= (p.Ala457=)
n.19C=
c.2720C= (p.Ala907=)
c.2464-1332C= (n.2464-1332C=)
c.2711C= (p.Ala904=)
c.2012C= (p.Ala671=)
c.2759C= (p.Ala920=)
16g.3770685G>TCA276969026CREBBPc.2765C>A (p.Ala922Asp)
c.2651C>A (p.Ala884Asp)
c.1370C>A (p.Ala457Asp)
n.19C>A
c.2720C>A (p.Ala907Asp)
c.2464-1332C>A (n.2464-1332C>A)
c.2711C>A (p.Ala904Asp)
c.2012C>A (p.Ala671Asp)
c.2759C>A (p.Ala920Asp)
 ClinVar dbSNP gnomAD v4
16g.3770686C>ACA276969028CREBBPc.2764G>T (p.Ala922Ser)
c.2650G>T (p.Ala884Ser)
c.1369G>T (p.Ala457Ser)
n.18G>T
c.2719G>T (p.Ala907Ser)
c.2464-1333G>T (n.2464-1333G>T)
c.2710G>T (p.Ala904Ser)
c.2011G>T (p.Ala671Ser)
c.2758G>T (p.Ala920Ser)
 dbSNP
16g.3770686C=CA2202950835CREBBPc.2764G= (p.Ala922=)
c.2650G= (p.Ala884=)
c.1369G= (p.Ala457=)
n.18G=
c.2719G= (p.Ala907=)
c.2464-1333G= (n.2464-1333G=)
c.2710G= (p.Ala904=)
c.2011G= (p.Ala671=)
c.2758G= (p.Ala920=)
16g.3770686C>GCA394550865CREBBPc.2764G>C (p.Ala922Pro)
c.2650G>C (p.Ala884Pro)
c.1369G>C (p.Ala457Pro)
n.18G>C
c.2719G>C (p.Ala907Pro)
c.2464-1333G>C (n.2464-1333G>C)
c.2710G>C (p.Ala904Pro)
c.2011G>C (p.Ala671Pro)
c.2758G>C (p.Ala920Pro)
 dbSNP
16g.3770686C>TCA394550867CREBBPc.2764G>A (p.Ala922Thr)
c.2650G>A (p.Ala884Thr)
c.1369G>A (p.Ala457Thr)
n.18G>A
c.2719G>A (p.Ala907Thr)
c.2464-1333G>A (n.2464-1333G>A)
c.2710G>A (p.Ala904Thr)
c.2011G>A (p.Ala671Thr)
c.2758G>A (p.Ala920Thr)
 dbSNP
16g.3770687T>ACA493394851CREBBPc.2763A>T (p.Ala921=)
c.2649A>T (p.Ala883=)
c.1368A>T (p.Ala456=)
n.17A>T
c.2718A>T (p.Ala906=)
c.2464-1334A>T (n.2464-1334A>T)
c.2709A>T (p.Ala903=)
c.2010A>T (p.Ala670=)
c.2757A>T (p.Ala919=)
 dbSNP gnomAD v4
16g.3770687T>CCA493394852CREBBPc.2763A>G (p.Ala921=)
c.2649A>G (p.Ala883=)
c.1368A>G (p.Ala456=)
n.17A>G
c.2718A>G (p.Ala906=)
c.2464-1334A>G (n.2464-1334A>G)
c.2709A>G (p.Ala903=)
c.2010A>G (p.Ala670=)
c.2757A>G (p.Ala919=)
 dbSNP gnomAD v4
16g.3770687T>GCA493394853CREBBPc.2763A>C (p.Ala921=)
c.2649A>C (p.Ala883=)
c.1368A>C (p.Ala456=)
n.17A>C
c.2718A>C (p.Ala906=)
c.2464-1334A>C (n.2464-1334A>C)
c.2709A>C (p.Ala903=)
c.2010A>C (p.Ala670=)
c.2757A>C (p.Ala919=)
 dbSNP
16g.3770688G>ACA394550874CREBBPc.2762C>T (p.Ala921Val)
c.2648C>T (p.Ala883Val)
c.1367C>T (p.Ala456Val)
n.16C>T
c.2717C>T (p.Ala906Val)
c.2464-1335C>T (n.2464-1335C>T)
c.2708C>T (p.Ala903Val)
c.2009C>T (p.Ala670Val)
c.2756C>T (p.Ala919Val)
 dbSNP gnomAD v4
16g.3770688G>CCA394550871CREBBPc.2762C>G (p.Ala921Gly)
c.2648C>G (p.Ala883Gly)
c.1367C>G (p.Ala456Gly)
n.16C>G
c.2717C>G (p.Ala906Gly)
c.2464-1335C>G (n.2464-1335C>G)
c.2708C>G (p.Ala903Gly)
c.2009C>G (p.Ala670Gly)
c.2756C>G (p.Ala919Gly)
 dbSNP
16g.3770688G>TCA394550870CREBBPc.2762C>A (p.Ala921Glu)
c.2648C>A (p.Ala883Glu)
c.1367C>A (p.Ala456Glu)
n.16C>A
c.2717C>A (p.Ala906Glu)
c.2464-1335C>A (n.2464-1335C>A)
c.2708C>A (p.Ala903Glu)
c.2009C>A (p.Ala670Glu)
c.2756C>A (p.Ala919Glu)
 dbSNP
16g.3770689C>ACA394550876CREBBPc.2761G>T (p.Ala921Ser)
c.2647G>T (p.Ala883Ser)
c.1366G>T (p.Ala456Ser)
n.15G>T
c.2716G>T (p.Ala906Ser)
c.2464-1336G>T (n.2464-1336G>T)
c.2707G>T (p.Ala903Ser)
c.2008G>T (p.Ala670Ser)
c.2755G>T (p.Ala919Ser)
 dbSNP
16g.3770689C>GCA394550878CREBBPc.2761G>C (p.Ala921Pro)
c.2647G>C (p.Ala883Pro)
c.1366G>C (p.Ala456Pro)
n.15G>C
c.2716G>C (p.Ala906Pro)
c.2464-1336G>C (n.2464-1336G>C)
c.2707G>C (p.Ala903Pro)
c.2008G>C (p.Ala670Pro)
c.2755G>C (p.Ala919Pro)
 dbSNP
16g.3770689C>TCA394550880CREBBPc.2761G>A (p.Ala921Thr)
c.2647G>A (p.Ala883Thr)
c.1366G>A (p.Ala456Thr)
n.15G>A
c.2716G>A (p.Ala906Thr)
c.2464-1336G>A (n.2464-1336G>A)
c.2707G>A (p.Ala903Thr)
c.2008G>A (p.Ala670Thr)
c.2755G>A (p.Ala919Thr)
 dbSNP gnomAD v4
16g.3770690T>ACA493394854CREBBPc.2760A>T (p.Ala920=)
c.2646A>T (p.Ala882=)
c.1365A>T (p.Ala455=)
n.14A>T
c.2715A>T (p.Ala905=)
c.2464-1337A>T (n.2464-1337A>T)
c.2706A>T (p.Ala902=)
c.2007A>T (p.Ala669=)
c.2754A>T (p.Ala918=)
 dbSNP
16g.3770690T>CCA493394856CREBBPc.2760A>G (p.Ala920=)
c.2646A>G (p.Ala882=)
c.1365A>G (p.Ala455=)
n.14A>G
c.2715A>G (p.Ala905=)
c.2464-1337A>G (n.2464-1337A>G)
c.2706A>G (p.Ala902=)
c.2007A>G (p.Ala669=)
c.2754A>G (p.Ala918=)
 dbSNP gnomAD v4
16g.3770690T>GCA493394855CREBBPc.2760A>C (p.Ala920=)
c.2646A>C (p.Ala882=)
c.1365A>C (p.Ala455=)
n.14A>C
c.2715A>C (p.Ala905=)
c.2464-1337A>C (n.2464-1337A>C)
c.2706A>C (p.Ala902=)
c.2007A>C (p.Ala669=)
c.2754A>C (p.Ala918=)
 dbSNP
16g.3770691G>ACA394550882CREBBPc.2759C>T (p.Ala920Val)
c.2645C>T (p.Ala882Val)
c.1364C>T (p.Ala455Val)
n.13C>T
c.2714C>T (p.Ala905Val)
c.2464-1338C>T (n.2464-1338C>T)
c.2705C>T (p.Ala902Val)
c.2006C>T (p.Ala669Val)
c.2753C>T (p.Ala918Val)
 dbSNP gnomAD v4
16g.3770691G>CCA394550884CREBBPc.2759C>G (p.Ala920Gly)
c.2645C>G (p.Ala882Gly)
c.1364C>G (p.Ala455Gly)
n.13C>G
c.2714C>G (p.Ala905Gly)
c.2464-1338C>G (n.2464-1338C>G)
c.2705C>G (p.Ala902Gly)
c.2006C>G (p.Ala669Gly)
c.2753C>G (p.Ala918Gly)
 dbSNP
16g.3770691G>TCA394550886CREBBPc.2759C>A (p.Ala920Glu)
c.2645C>A (p.Ala882Glu)
c.1364C>A (p.Ala455Glu)
n.13C>A
c.2714C>A (p.Ala905Glu)
c.2464-1338C>A (n.2464-1338C>A)
c.2705C>A (p.Ala902Glu)
c.2006C>A (p.Ala669Glu)
c.2753C>A (p.Ala918Glu)
16g.3770692C>ACA394550888CREBBPc.2758G>T (p.Ala920Ser)
c.2644G>T (p.Ala882Ser)
c.1363G>T (p.Ala455Ser)
n.12G>T
c.2713G>T (p.Ala905Ser)
c.2464-1339G>T (n.2464-1339G>T)
c.2704G>T (p.Ala902Ser)
c.2005G>T (p.Ala669Ser)
c.2752G>T (p.Ala918Ser)
 dbSNP
16g.3770692C=CA2202950836CREBBPc.2758G= (p.Ala920=)
c.2644G= (p.Ala882=)
c.1363G= (p.Ala455=)
n.12G=
c.2713G= (p.Ala905=)
c.2464-1339G= (n.2464-1339G=)
c.2704G= (p.Ala902=)
c.2005G= (p.Ala669=)
c.2752G= (p.Ala918=)
16g.3770692C>GCA394550890CREBBPc.2758G>C (p.Ala920Pro)
c.2644G>C (p.Ala882Pro)
c.1363G>C (p.Ala455Pro)
n.12G>C
c.2713G>C (p.Ala905Pro)
c.2464-1339G>C (n.2464-1339G>C)
c.2704G>C (p.Ala902Pro)
c.2005G>C (p.Ala669Pro)
c.2752G>C (p.Ala918Pro)
 dbSNP
16g.3770692C>TCA394550892CREBBPc.2758G>A (p.Ala920Thr)
c.2644G>A (p.Ala882Thr)
c.1363G>A (p.Ala455Thr)
n.12G>A
c.2713G>A (p.Ala905Thr)
c.2464-1339G>A (n.2464-1339G>A)
c.2704G>A (p.Ala902Thr)
c.2005G>A (p.Ala669Thr)
c.2752G>A (p.Ala918Thr)
 dbSNP
16g.3770693C>ACA394550894CREBBPc.2757G>T (p.Gln919His)
c.2643G>T (p.Gln881His)
c.1362G>T (p.Gln454His)
n.11G>T
c.2712G>T (p.Gln904His)
c.2464-1340G>T (n.2464-1340G>T)
c.2703G>T (p.Gln901His)
c.2004G>T (p.Gln668His)
c.2751G>T (p.Gln917His)
 dbSNP
16g.3770693C>GCA394550896CREBBPc.2757G>C (p.Gln919His)
c.2643G>C (p.Gln881His)
c.1362G>C (p.Gln454His)
n.11G>C
c.2712G>C (p.Gln904His)
c.2464-1340G>C (n.2464-1340G>C)
c.2703G>C (p.Gln901His)
c.2004G>C (p.Gln668His)
c.2751G>C (p.Gln917His)
 dbSNP
16g.3770693C>TCA493394858CREBBPc.2757G>A (p.Gln919=)
c.2643G>A (p.Gln881=)
c.1362G>A (p.Gln454=)
n.11G>A
c.2712G>A (p.Gln904=)
c.2464-1340G>A (n.2464-1340G>A)
c.2703G>A (p.Gln901=)
c.2004G>A (p.Gln668=)
c.2751G>A (p.Gln917=)
 dbSNP gnomAD v4
16g.3770694T>ACA394550902CREBBPc.2756A>T (p.Gln919Leu)
c.2642A>T (p.Gln881Leu)
c.1361A>T (p.Gln454Leu)
n.10A>T
c.2711A>T (p.Gln904Leu)
c.2464-1341A>T (n.2464-1341A>T)
c.2702A>T (p.Gln901Leu)
c.2003A>T (p.Gln668Leu)
c.2750A>T (p.Gln917Leu)
 dbSNP
16g.3770694T>CCA394550900CREBBPc.2756A>G (p.Gln919Arg)
c.2642A>G (p.Gln881Arg)
c.1361A>G (p.Gln454Arg)
n.10A>G
c.2711A>G (p.Gln904Arg)
c.2464-1341A>G (n.2464-1341A>G)
c.2702A>G (p.Gln901Arg)
c.2003A>G (p.Gln668Arg)
c.2750A>G (p.Gln917Arg)
16g.3770694T>GCA394550898CREBBPc.2756A>C (p.Gln919Pro)
c.2642A>C (p.Gln881Pro)
c.1361A>C (p.Gln454Pro)
n.10A>C
c.2711A>C (p.Gln904Pro)
c.2464-1341A>C (n.2464-1341A>C)
c.2702A>C (p.Gln901Pro)
c.2003A>C (p.Gln668Pro)
c.2750A>C (p.Gln917Pro)
16g.3770695G>ACA394550904CREBBPc.2755C>T (p.Gln919Ter)
c.2641C>T (p.Gln881Ter)
c.1360C>T (p.Gln454Ter)
n.9C>T
c.2710C>T (p.Gln904Ter)
c.2464-1342C>T (n.2464-1342C>T)
c.2701C>T (p.Gln901Ter)
c.2002C>T (p.Gln668Ter)
c.2749C>T (p.Gln917Ter)
 ClinVar dbSNP
16g.3770695G>CCA394550906CREBBPc.2755C>G (p.Gln919Glu)
c.2641C>G (p.Gln881Glu)
c.1360C>G (p.Gln454Glu)
n.9C>G
c.2710C>G (p.Gln904Glu)
c.2464-1342C>G (n.2464-1342C>G)
c.2701C>G (p.Gln901Glu)
c.2002C>G (p.Gln668Glu)
c.2749C>G (p.Gln917Glu)
 dbSNP
16g.3770695G=CA2202950837CREBBPc.2755C= (p.Gln919=)
c.2641C= (p.Gln881=)
c.1360C= (p.Gln454=)
n.9C=
c.2710C= (p.Gln904=)
c.2464-1342C= (n.2464-1342C=)
c.2701C= (p.Gln901=)
c.2002C= (p.Gln668=)
c.2749C= (p.Gln917=)
16g.3770695G>TCA394550908CREBBPc.2755C>A (p.Gln919Lys)
c.2641C>A (p.Gln881Lys)
c.1360C>A (p.Gln454Lys)
n.9C>A
c.2710C>A (p.Gln904Lys)
c.2464-1342C>A (n.2464-1342C>A)
c.2701C>A (p.Gln901Lys)
c.2002C>A (p.Gln668Lys)
c.2749C>A (p.Gln917Lys)
 dbSNP
16g.3770697_3770705delCA2631425951CREBBPc.2747_2755del (p.Pro916_Val918del)
c.2633_2641del (p.Pro878_Val880del)
c.1352_1360del (p.Pro451_Val453del)
c.2702_2710del (p.Pro901_Val903del)
c.2464-1350_2464-1342del (n.2464-1350_2464-1342del)
c.2693_2701del (p.Pro898_Val900del)
c.1994_2002del (p.Pro665_Val667del)
c.2741_2749del (p.Pro914_Val916del)
 gnomAD v4
16g.3770696G>ACA493394862CREBBPc.2754C>T (p.Val918=)
c.2640C>T (p.Val880=)
c.1359C>T (p.Val453=)
n.8C>T
c.2709C>T (p.Val903=)
c.2464-1343C>T (n.2464-1343C>T)
c.2700C>T (p.Val900=)
c.2001C>T (p.Val667=)
c.2748C>T (p.Val916=)
 dbSNP
16g.3770696G>CCA493394863CREBBPc.2754C>G (p.Val918=)
c.2640C>G (p.Val880=)
c.1359C>G (p.Val453=)
n.8C>G
c.2709C>G (p.Val903=)
c.2464-1343C>G (n.2464-1343C>G)
c.2700C>G (p.Val900=)
c.2001C>G (p.Val667=)
c.2748C>G (p.Val916=)
 dbSNP
16g.3770696G>TCA493394864CREBBPc.2754C>A (p.Val918=)
c.2640C>A (p.Val880=)
c.1359C>A (p.Val453=)
n.8C>A
c.2709C>A (p.Val903=)
c.2464-1343C>A (n.2464-1343C>A)
c.2700C>A (p.Val900=)
c.2001C>A (p.Val667=)
c.2748C>A (p.Val916=)
 dbSNP
16g.3770697A>CCA394550910CREBBPc.2753T>G (p.Val918Gly)
c.2639T>G (p.Val880Gly)
c.1358T>G (p.Val453Gly)
n.7T>G
c.2708T>G (p.Val903Gly)
c.2464-1344T>G (n.2464-1344T>G)
c.2699T>G (p.Val900Gly)
c.2000T>G (p.Val667Gly)
c.2747T>G (p.Val916Gly)
 dbSNP
16g.3770697A>GCA394550912CREBBPc.2753T>C (p.Val918Ala)
c.2639T>C (p.Val880Ala)
c.1358T>C (p.Val453Ala)
n.7T>C
c.2708T>C (p.Val903Ala)
c.2464-1344T>C (n.2464-1344T>C)
c.2699T>C (p.Val900Ala)
c.2000T>C (p.Val667Ala)
c.2747T>C (p.Val916Ala)
 dbSNP
16g.3770697A>TCA394550914CREBBPc.2753T>A (p.Val918Asp)
c.2639T>A (p.Val880Asp)
c.1358T>A (p.Val453Asp)
n.7T>A
c.2708T>A (p.Val903Asp)
c.2464-1344T>A (n.2464-1344T>A)
c.2699T>A (p.Val900Asp)
c.2000T>A (p.Val667Asp)
c.2747T>A (p.Val916Asp)
 dbSNP
16g.3770698C>ACA394550917CREBBPc.2752G>T (p.Val918Phe)
c.2638G>T (p.Val880Phe)
c.1357G>T (p.Val453Phe)
n.6G>T
c.2707G>T (p.Val903Phe)
c.2464-1345G>T (n.2464-1345G>T)
c.2698G>T (p.Val900Phe)
c.1999G>T (p.Val667Phe)
c.2746G>T (p.Val916Phe)
16g.3770698C>GCA394550919CREBBPc.2752G>C (p.Val918Leu)
c.2638G>C (p.Val880Leu)
c.1357G>C (p.Val453Leu)
n.6G>C
c.2707G>C (p.Val903Leu)
c.2464-1345G>C (n.2464-1345G>C)
c.2698G>C (p.Val900Leu)
c.1999G>C (p.Val667Leu)
c.2746G>C (p.Val916Leu)
 dbSNP gnomAD v4
16g.3770698C>TCA394550920CREBBPc.2752G>A (p.Val918Ile)
c.2638G>A (p.Val880Ile)
c.1357G>A (p.Val453Ile)
n.6G>A
c.2707G>A (p.Val903Ile)
c.2464-1345G>A (n.2464-1345G>A)
c.2698G>A (p.Val900Ile)
c.1999G>A (p.Val667Ile)
c.2746G>A (p.Val916Ile)
 dbSNP gnomAD v4
16g.3770699T>ACA493394865CREBBPc.2751A>T (p.Thr917=)
c.2637A>T (p.Thr879=)
c.1356A>T (p.Thr452=)
n.5A>T
c.2706A>T (p.Thr902=)
c.2464-1346A>T (n.2464-1346A>T)
c.2697A>T (p.Thr899=)
c.1998A>T (p.Thr666=)
c.2745A>T (p.Thr915=)
 dbSNP
16g.3770699T>CCA493394866CREBBPc.2751A>G (p.Thr917=)
c.2637A>G (p.Thr879=)
c.1356A>G (p.Thr452=)
n.5A>G
c.2706A>G (p.Thr902=)
c.2464-1346A>G (n.2464-1346A>G)
c.2697A>G (p.Thr899=)
c.1998A>G (p.Thr666=)
c.2745A>G (p.Thr915=)
 dbSNP gnomAD v4
16g.3770699T>GCA493394867CREBBPc.2751A>C (p.Thr917=)
c.2637A>C (p.Thr879=)
c.1356A>C (p.Thr452=)
n.5A>C
c.2706A>C (p.Thr902=)
c.2464-1346A>C (n.2464-1346A>C)
c.2697A>C (p.Thr899=)
c.1998A>C (p.Thr666=)
c.2745A>C (p.Thr915=)
 dbSNP
16g.3770700G>ACA394550923CREBBPc.2750C>T (p.Thr917Ile)
c.2636C>T (p.Thr879Ile)
c.1355C>T (p.Thr452Ile)
n.4C>T
c.2705C>T (p.Thr902Ile)
c.2464-1347C>T (n.2464-1347C>T)
c.2696C>T (p.Thr899Ile)
c.1997C>T (p.Thr666Ile)
c.2744C>T (p.Thr915Ile)
 ClinVar dbSNP
16g.3770700G>CCA394550925CREBBPc.2750C>G (p.Thr917Arg)
c.2636C>G (p.Thr879Arg)
c.1355C>G (p.Thr452Arg)
n.4C>G
c.2705C>G (p.Thr902Arg)
c.2464-1347C>G (n.2464-1347C>G)
c.2696C>G (p.Thr899Arg)
c.1997C>G (p.Thr666Arg)
c.2744C>G (p.Thr915Arg)
 dbSNP
16g.3770700G>TCA394550926CREBBPc.2750C>A (p.Thr917Lys)
c.2636C>A (p.Thr879Lys)
c.1355C>A (p.Thr452Lys)
n.4C>A
c.2705C>A (p.Thr902Lys)
c.2464-1347C>A (n.2464-1347C>A)
c.2696C>A (p.Thr899Lys)
c.1997C>A (p.Thr666Lys)
c.2744C>A (p.Thr915Lys)
16g.3770701_3770703delCA2573054231CREBBPc.2748_2750del (p.Thr917del)
c.2634_2636del (p.Thr879del)
c.1353_1355del (p.Thr452del)
n.2_4del
c.2703_2705del (p.Thr902del)
c.2464-1349_2464-1347del (n.2464-1349_2464-1347del)
c.2694_2696del (p.Thr899del)
c.1995_1997del (p.Thr666del)
c.2742_2744del (p.Thr915del)
 ClinVar dbSNP
16g.3770701T>ACA394550933CREBBPc.2749A>T (p.Thr917Ser)
c.2635A>T (p.Thr879Ser)
c.1354A>T (p.Thr452Ser)
n.3A>T
c.2704A>T (p.Thr902Ser)
c.2464-1348A>T (n.2464-1348A>T)
c.2695A>T (p.Thr899Ser)
c.1996A>T (p.Thr666Ser)
c.2743A>T (p.Thr915Ser)
 dbSNP
16g.3770701T>CCA394550931CREBBPc.2749A>G (p.Thr917Ala)
c.2635A>G (p.Thr879Ala)
c.1354A>G (p.Thr452Ala)
n.3A>G
c.2704A>G (p.Thr902Ala)
c.2464-1348A>G (n.2464-1348A>G)
c.2695A>G (p.Thr899Ala)
c.1996A>G (p.Thr666Ala)
c.2743A>G (p.Thr915Ala)
 ClinVar dbSNP gnomAD v4
16g.3770701T>GCA394550929CREBBPc.2749A>C (p.Thr917Pro)
c.2635A>C (p.Thr879Pro)
c.1354A>C (p.Thr452Pro)
n.3A>C
c.2704A>C (p.Thr902Pro)
c.2464-1348A>C (n.2464-1348A>C)
c.2695A>C (p.Thr899Pro)
c.1996A>C (p.Thr666Pro)
c.2743A>C (p.Thr915Pro)
16g.3770701dupCA2695222746CREBBPc.2749dup (p.Thr917AsnfsTer?)
c.2635dup (p.Thr879AsnfsTer?)
c.1354dup (p.Thr452AsnfsTer?)
n.3dup
c.2704dup (p.Thr902AsnfsTer?)
c.2464-1348dup (n.2464-1348dup)
c.2695dup (p.Thr899AsnfsTer?)
c.1996dup (p.Thr666AsnfsTer?)
c.2743dup (p.Thr915AsnfsTer?)
16g.3770702A>CCA493394869CREBBPc.2748T>G (p.Pro916=)
c.2634T>G (p.Pro878=)
c.1353T>G (p.Pro451=)
n.2T>G
c.2703T>G (p.Pro901=)
c.2464-1349T>G (n.2464-1349T>G)
c.2694T>G (p.Pro898=)
c.1995T>G (p.Pro665=)
c.2742T>G (p.Pro914=)
16g.3770702A>GCA493394872CREBBPc.2748T>C (p.Pro916=)
c.2634T>C (p.Pro878=)
c.1353T>C (p.Pro451=)
n.2T>C
c.2703T>C (p.Pro901=)
c.2464-1349T>C (n.2464-1349T>C)
c.2694T>C (p.Pro898=)
c.1995T>C (p.Pro665=)
c.2742T>C (p.Pro914=)
16g.3770702A>TCA493394870CREBBPc.2748T>A (p.Pro916=)
c.2634T>A (p.Pro878=)
c.1353T>A (p.Pro451=)
n.2T>A
c.2703T>A (p.Pro901=)
c.2464-1349T>A (n.2464-1349T>A)
c.2694T>A (p.Pro898=)
c.1995T>A (p.Pro665=)
c.2742T>A (p.Pro914=)
 dbSNP
16g.3770703G>ACA394550935CREBBPc.2747C>T (p.Pro916Leu)
c.2633C>T (p.Pro878Leu)
c.1352C>T (p.Pro451Leu)
n.1C>T
c.2702C>T (p.Pro901Leu)
c.2464-1350C>T (n.2464-1350C>T)
c.2693C>T (p.Pro898Leu)
c.1994C>T (p.Pro665Leu)
c.2741C>T (p.Pro914Leu)
 dbSNP
16g.3770703G>CCA394550938CREBBPc.2747C>G (p.Pro916Arg)
c.2633C>G (p.Pro878Arg)
c.1352C>G (p.Pro451Arg)
n.1C>G
c.2702C>G (p.Pro901Arg)
c.2464-1350C>G (n.2464-1350C>G)
c.2693C>G (p.Pro898Arg)
c.1994C>G (p.Pro665Arg)
c.2741C>G (p.Pro914Arg)
 dbSNP
16g.3770703G>TCA394550937CREBBPc.2747C>A (p.Pro916His)
c.2633C>A (p.Pro878His)
c.1352C>A (p.Pro451His)
n.1C>A
c.2702C>A (p.Pro901His)
c.2464-1350C>A (n.2464-1350C>A)
c.2693C>A (p.Pro898His)
c.1994C>A (p.Pro665His)
c.2741C>A (p.Pro914His)
 dbSNP
16g.3770706delCA2695222747CREBBPc.2747del (p.Pro916LeufsTer11)
c.2633del (p.Pro878LeufsTer11)
c.1352del (p.Pro451LeufsTer11)
c.2702del (p.Pro901LeufsTer11)
c.2464-1350del (n.2464-1350del)
c.2693del (p.Pro898LeufsTer11)
c.1994del (p.Pro665LeufsTer11)
c.2741del (p.Pro914LeufsTer11)
16g.3770704G>ACA394550941CREBBPc.2746C>T (p.Pro916Ser)
c.2632C>T (p.Pro878Ser)
c.1351C>T (p.Pro451Ser)
c.2701C>T (p.Pro901Ser)
c.2464-1351C>T (n.2464-1351C>T)
c.2692C>T (p.Pro898Ser)
c.1993C>T (p.Pro665Ser)
c.2740C>T (p.Pro914Ser)
 dbSNP
16g.3770704G>CCA394550943CREBBPc.2746C>G (p.Pro916Ala)
c.2632C>G (p.Pro878Ala)
c.1351C>G (p.Pro451Ala)
c.2701C>G (p.Pro901Ala)
c.2464-1351C>G (n.2464-1351C>G)
c.2692C>G (p.Pro898Ala)
c.1993C>G (p.Pro665Ala)
c.2740C>G (p.Pro914Ala)
 dbSNP
16g.3770704G>TCA394550944CREBBPc.2746C>A (p.Pro916Thr)
c.2632C>A (p.Pro878Thr)
c.1351C>A (p.Pro451Thr)
c.2701C>A (p.Pro901Thr)
c.2464-1351C>A (n.2464-1351C>A)
c.2692C>A (p.Pro898Thr)
c.1993C>A (p.Pro665Thr)
c.2740C>A (p.Pro914Thr)
 dbSNP
16g.3770705G>ACA493394874CREBBPc.2745C>T (p.Thr915=)
c.2631C>T (p.Thr877=)
c.1350C>T (p.Thr450=)
c.2700C>T (p.Thr900=)
c.2464-1352C>T (n.2464-1352C>T)
c.2691C>T (p.Thr897=)
c.1992C>T (p.Thr664=)
c.2739C>T (p.Thr913=)
 dbSNP gnomAD v4
16g.3770705G>CCA493394875CREBBPc.2745C>G (p.Thr915=)
c.2631C>G (p.Thr877=)
c.1350C>G (p.Thr450=)
c.2700C>G (p.Thr900=)
c.2464-1352C>G (n.2464-1352C>G)
c.2691C>G (p.Thr897=)
c.1992C>G (p.Thr664=)
c.2739C>G (p.Thr913=)
 dbSNP
16g.3770705G=CA2202950838CREBBPc.2745C= (p.Thr915=)
c.2631C= (p.Thr877=)
c.1350C= (p.Thr450=)
c.2700C= (p.Thr900=)
c.2464-1352C= (n.2464-1352C=)
c.2691C= (p.Thr897=)
c.1992C= (p.Thr664=)
c.2739C= (p.Thr913=)
16g.3770705G>TCA493394876CREBBPc.2745C>A (p.Thr915=)
c.2631C>A (p.Thr877=)
c.1350C>A (p.Thr450=)
c.2700C>A (p.Thr900=)
c.2464-1352C>A (n.2464-1352C>A)
c.2691C>A (p.Thr897=)
c.1992C>A (p.Thr664=)
c.2739C>A (p.Thr913=)
 dbSNP gnomAD v4
16g.3770706G>ACA394550945CREBBPc.2744C>T (p.Thr915Ile)
c.2630C>T (p.Thr877Ile)
c.1349C>T (p.Thr450Ile)
c.2699C>T (p.Thr900Ile)
c.2464-1353C>T (n.2464-1353C>T)
c.2690C>T (p.Thr897Ile)
c.1991C>T (p.Thr664Ile)
c.2738C>T (p.Thr913Ile)
 ClinVar dbSNP
16g.3770706G>CCA394550947CREBBPc.2744C>G (p.Thr915Ser)
c.2630C>G (p.Thr877Ser)
c.1349C>G (p.Thr450Ser)
c.2699C>G (p.Thr900Ser)
c.2464-1353C>G (n.2464-1353C>G)
c.2690C>G (p.Thr897Ser)
c.1991C>G (p.Thr664Ser)
c.2738C>G (p.Thr913Ser)
 dbSNP
16g.3770706G>TCA394550949CREBBPc.2744C>A (p.Thr915Asn)
c.2630C>A (p.Thr877Asn)
c.1349C>A (p.Thr450Asn)
c.2699C>A (p.Thr900Asn)
c.2464-1353C>A (n.2464-1353C>A)
c.2690C>A (p.Thr897Asn)
c.1991C>A (p.Thr664Asn)
c.2738C>A (p.Thr913Asn)
 dbSNP
16g.3770707T>ACA394550951CREBBPc.2743A>T (p.Thr915Ser)
c.2629A>T (p.Thr877Ser)
c.1348A>T (p.Thr450Ser)
c.2698A>T (p.Thr900Ser)
c.2464-1354A>T (n.2464-1354A>T)
c.2689A>T (p.Thr897Ser)
c.1990A>T (p.Thr664Ser)
c.2737A>T (p.Thr913Ser)
 dbSNP
16g.3770707T>CCA394550953CREBBPc.2743A>G (p.Thr915Ala)
c.2629A>G (p.Thr877Ala)
c.1348A>G (p.Thr450Ala)
c.2698A>G (p.Thr900Ala)
c.2464-1354A>G (n.2464-1354A>G)
c.2689A>G (p.Thr897Ala)
c.1990A>G (p.Thr664Ala)
c.2737A>G (p.Thr913Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.3770707T>GCA394550955CREBBPc.2743A>C (p.Thr915Pro)
c.2629A>C (p.Thr877Pro)
c.1348A>C (p.Thr450Pro)
c.2698A>C (p.Thr900Pro)
c.2464-1354A>C (n.2464-1354A>C)
c.2689A>C (p.Thr897Pro)
c.1990A>C (p.Thr664Pro)
c.2737A>C (p.Thr913Pro)
 dbSNP
16g.3770707T=CA2202950839CREBBPc.2743A= (p.Thr915=)
c.2629A= (p.Thr877=)
c.1348A= (p.Thr450=)
c.2698A= (p.Thr900=)
c.2464-1354A= (n.2464-1354A=)
c.2689A= (p.Thr897=)
c.1990A= (p.Thr664=)
c.2737A= (p.Thr913=)
16g.3770708G>ACA493394878CREBBPc.2742C>T (p.Ser914=)
c.2628C>T (p.Ser876=)
c.1347C>T (p.Ser449=)
c.2697C>T (p.Ser899=)
c.2464-1355C>T (n.2464-1355C>T)
c.2688C>T (p.Ser896=)
c.1989C>T (p.Ser663=)
c.2736C>T (p.Ser912=)
16g.3770708G>CCA394550957CREBBPc.2742C>G (p.Ser914Arg)
c.2628C>G (p.Ser876Arg)
c.1347C>G (p.Ser449Arg)
c.2697C>G (p.Ser899Arg)
c.2464-1355C>G (n.2464-1355C>G)
c.2688C>G (p.Ser896Arg)
c.1989C>G (p.Ser663Arg)
c.2736C>G (p.Ser912Arg)
16g.3770708G>TCA394550958CREBBPc.2742C>A (p.Ser914Arg)
c.2628C>A (p.Ser876Arg)
c.1347C>A (p.Ser449Arg)
c.2697C>A (p.Ser899Arg)
c.2464-1355C>A (n.2464-1355C>A)
c.2688C>A (p.Ser896Arg)
c.1989C>A (p.Ser663Arg)
c.2736C>A (p.Ser912Arg)
 gnomAD v4
16g.3770709C>ACA394550962CREBBPc.2741G>T (p.Ser914Ile)
c.2627G>T (p.Ser876Ile)
c.1346G>T (p.Ser449Ile)
c.2696G>T (p.Ser899Ile)
c.2464-1356G>T (n.2464-1356G>T)
c.2687G>T (p.Ser896Ile)
c.1988G>T (p.Ser663Ile)
c.2735G>T (p.Ser912Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.3770709C=CA2202950840CREBBPc.2741G= (p.Ser914=)
c.2627G= (p.Ser876=)
c.1346G= (p.Ser449=)
c.2696G= (p.Ser899=)
c.2464-1356G= (n.2464-1356G=)
c.2687G= (p.Ser896=)
c.1988G= (p.Ser663=)
c.2735G= (p.Ser912=)
16g.3770709C>GCA394550960CREBBPc.2741G>C (p.Ser914Thr)
c.2627G>C (p.Ser876Thr)
c.1346G>C (p.Ser449Thr)
c.2696G>C (p.Ser899Thr)
c.2464-1356G>C (n.2464-1356G>C)
c.2687G>C (p.Ser896Thr)
c.1988G>C (p.Ser663Thr)
c.2735G>C (p.Ser912Thr)
 dbSNP
16g.3770709C>TCA7870042CREBBPc.2741G>A (p.Ser914Asn)
c.2627G>A (p.Ser876Asn)
c.1346G>A (p.Ser449Asn)
c.2696G>A (p.Ser899Asn)
c.2464-1356G>A (n.2464-1356G>A)
c.2687G>A (p.Ser896Asn)
c.1988G>A (p.Ser663Asn)
c.2735G>A (p.Ser912Asn)
 dbSNP ExAC gnomAD v2
16g.3770710T>ACA394550965CREBBPc.2740A>T (p.Ser914Cys)
c.2626A>T (p.Ser876Cys)
c.1345A>T (p.Ser449Cys)
c.2695A>T (p.Ser899Cys)
c.2464-1357A>T (n.2464-1357A>T)
c.2686A>T (p.Ser896Cys)
c.1987A>T (p.Ser663Cys)
c.2734A>T (p.Ser912Cys)
 dbSNP
16g.3770710T>CCA394550967CREBBPc.2740A>G (p.Ser914Gly)
c.2626A>G (p.Ser876Gly)
c.1345A>G (p.Ser449Gly)
c.2695A>G (p.Ser899Gly)
c.2464-1357A>G (n.2464-1357A>G)
c.2686A>G (p.Ser896Gly)
c.1987A>G (p.Ser663Gly)
c.2734A>G (p.Ser912Gly)
 dbSNP
16g.3770710T>GCA394550969CREBBPc.2740A>C (p.Ser914Arg)
c.2626A>C (p.Ser876Arg)
c.1345A>C (p.Ser449Arg)
c.2695A>C (p.Ser899Arg)
c.2464-1357A>C (n.2464-1357A>C)
c.2686A>C (p.Ser896Arg)
c.1987A>C (p.Ser663Arg)
c.2734A>C (p.Ser912Arg)
 dbSNP
16g.3770711C>ACA394550971CREBBPc.2739G>T (p.Gln913His)
c.2625G>T (p.Gln875His)
c.1344G>T (p.Gln448His)
c.2694G>T (p.Gln898His)
c.2464-1358G>T (n.2464-1358G>T)
c.2685G>T (p.Gln895His)
c.1986G>T (p.Gln662His)
c.2733G>T (p.Gln911His)
 dbSNP gnomAD v4
16g.3770711C>GCA394550972CREBBPc.2739G>C (p.Gln913His)
c.2625G>C (p.Gln875His)
c.1344G>C (p.Gln448His)
c.2694G>C (p.Gln898His)
c.2464-1358G>C (n.2464-1358G>C)
c.2685G>C (p.Gln895His)
c.1986G>C (p.Gln662His)
c.2733G>C (p.Gln911His)
 dbSNP
16g.3770711C>TCA493394883CREBBPc.2739G>A (p.Gln913=)
c.2625G>A (p.Gln875=)
c.1344G>A (p.Gln448=)
c.2694G>A (p.Gln898=)
c.2464-1358G>A (n.2464-1358G>A)
c.2685G>A (p.Gln895=)
c.1986G>A (p.Gln662=)
c.2733G>A (p.Gln911=)
 dbSNP
16g.3770712T>ACA394550975CREBBPc.2738A>T (p.Gln913Leu)
c.2624A>T (p.Gln875Leu)
c.1343A>T (p.Gln448Leu)
c.2693A>T (p.Gln898Leu)
c.2464-1359A>T (n.2464-1359A>T)
c.2684A>T (p.Gln895Leu)
c.1985A>T (p.Gln662Leu)
c.2732A>T (p.Gln911Leu)
16g.3770712T>CCA394550977CREBBPc.2738A>G (p.Gln913Arg)
c.2624A>G (p.Gln875Arg)
c.1343A>G (p.Gln448Arg)
c.2693A>G (p.Gln898Arg)
c.2464-1359A>G (n.2464-1359A>G)
c.2684A>G (p.Gln895Arg)
c.1985A>G (p.Gln662Arg)
c.2732A>G (p.Gln911Arg)
 dbSNP
16g.3770712T>GCA394550978CREBBPc.2738A>C (p.Gln913Pro)
c.2624A>C (p.Gln875Pro)
c.1343A>C (p.Gln448Pro)
c.2693A>C (p.Gln898Pro)
c.2464-1359A>C (n.2464-1359A>C)
c.2684A>C (p.Gln895Pro)
c.1985A>C (p.Gln662Pro)
c.2732A>C (p.Gln911Pro)
16g.3770713G>ACA394550981CREBBPc.2737C>T (p.Gln913Ter)
c.2623C>T (p.Gln875Ter)
c.1342C>T (p.Gln448Ter)
c.2692C>T (p.Gln898Ter)
c.2464-1360C>T (n.2464-1360C>T)
c.2683C>T (p.Gln895Ter)
c.1984C>T (p.Gln662Ter)
c.2731C>T (p.Gln911Ter)
 dbSNP
16g.3770713G>CCA394550982CREBBPc.2737C>G (p.Gln913Glu)
c.2623C>G (p.Gln875Glu)
c.1342C>G (p.Gln448Glu)
c.2692C>G (p.Gln898Glu)
c.2464-1360C>G (n.2464-1360C>G)
c.2683C>G (p.Gln895Glu)
c.1984C>G (p.Gln662Glu)
c.2731C>G (p.Gln911Glu)
 dbSNP
16g.3770713G>TCA394550984CREBBPc.2737C>A (p.Gln913Lys)
c.2623C>A (p.Gln875Lys)
c.1342C>A (p.Gln448Lys)
c.2692C>A (p.Gln898Lys)
c.2464-1360C>A (n.2464-1360C>A)
c.2683C>A (p.Gln895Lys)
c.1984C>A (p.Gln662Lys)
c.2731C>A (p.Gln911Lys)
 dbSNP gnomAD v4
16g.3770714G>ACA493394885CREBBPc.2736C>T (p.Thr912=)
c.2622C>T (p.Thr874=)
c.1341C>T (p.Thr447=)
c.2691C>T (p.Thr897=)
c.2464-1361C>T (n.2464-1361C>T)
c.2682C>T (p.Thr894=)
c.1983C>T (p.Thr661=)
c.2730C>T (p.Thr910=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3770714G>CCA493394886CREBBPc.2736C>G (p.Thr912=)
c.2622C>G (p.Thr874=)
c.1341C>G (p.Thr447=)
c.2691C>G (p.Thr897=)
c.2464-1361C>G (n.2464-1361C>G)
c.2682C>G (p.Thr894=)
c.1983C>G (p.Thr661=)
c.2730C>G (p.Thr910=)
 dbSNP gnomAD v4
16g.3770714G=CA2202950841CREBBPc.2736C= (p.Thr912=)
c.2622C= (p.Thr874=)
c.1341C= (p.Thr447=)
c.2691C= (p.Thr897=)
c.2464-1361C= (n.2464-1361C=)
c.2682C= (p.Thr894=)
c.1983C= (p.Thr661=)
c.2730C= (p.Thr910=)
16g.3770714G>TCA493394887CREBBPc.2736C>A (p.Thr912=)
c.2622C>A (p.Thr874=)
c.1341C>A (p.Thr447=)
c.2691C>A (p.Thr897=)
c.2464-1361C>A (n.2464-1361C>A)
c.2682C>A (p.Thr894=)
c.1983C>A (p.Thr661=)
c.2730C>A (p.Thr910=)
 dbSNP
16g.3770715G>ACA394550988CREBBPc.2735C>T (p.Thr912Ile)
c.2621C>T (p.Thr874Ile)
c.1340C>T (p.Thr447Ile)
c.2690C>T (p.Thr897Ile)
c.2464-1362C>T (n.2464-1362C>T)
c.2681C>T (p.Thr894Ile)
c.1982C>T (p.Thr661Ile)
c.2729C>T (p.Thr910Ile)
 ClinVar dbSNP gnomAD v4
16g.3770715G>CCA394550990CREBBPc.2735C>G (p.Thr912Ser)
c.2621C>G (p.Thr874Ser)
c.1340C>G (p.Thr447Ser)
c.2690C>G (p.Thr897Ser)
c.2464-1362C>G (n.2464-1362C>G)
c.2681C>G (p.Thr894Ser)
c.1982C>G (p.Thr661Ser)
c.2729C>G (p.Thr910Ser)
 dbSNP
16g.3770715G=CA2202950842CREBBPc.2735C= (p.Thr912=)
c.2621C= (p.Thr874=)
c.1340C= (p.Thr447=)
c.2690C= (p.Thr897=)
c.2464-1362C= (n.2464-1362C=)
c.2681C= (p.Thr894=)
c.1982C= (p.Thr661=)
c.2729C= (p.Thr910=)
16g.3770715G>TCA394550986CREBBPc.2735C>A (p.Thr912Asn)
c.2621C>A (p.Thr874Asn)
c.1340C>A (p.Thr447Asn)
c.2690C>A (p.Thr897Asn)
c.2464-1362C>A (n.2464-1362C>A)
c.2681C>A (p.Thr894Asn)
c.1982C>A (p.Thr661Asn)
c.2729C>A (p.Thr910Asn)
 dbSNP
16g.3770716T>ACA394550992CREBBPc.2734A>T (p.Thr912Ser)
c.2620A>T (p.Thr874Ser)
c.1339A>T (p.Thr447Ser)
c.2689A>T (p.Thr897Ser)
c.2464-1363A>T (n.2464-1363A>T)
c.2680A>T (p.Thr894Ser)
c.1981A>T (p.Thr661Ser)
c.2728A>T (p.Thr910Ser)
 dbSNP
16g.3770716T>CCA394550994CREBBPc.2734A>G (p.Thr912Ala)
c.2620A>G (p.Thr874Ala)
c.1339A>G (p.Thr447Ala)
c.2689A>G (p.Thr897Ala)
c.2464-1363A>G (n.2464-1363A>G)
c.2680A>G (p.Thr894Ala)
c.1981A>G (p.Thr661Ala)
c.2728A>G (p.Thr910Ala)
 dbSNP
16g.3770716T>GCA394550996CREBBPc.2734A>C (p.Thr912Pro)
c.2620A>C (p.Thr874Pro)
c.1339A>C (p.Thr447Pro)
c.2689A>C (p.Thr897Pro)
c.2464-1363A>C (n.2464-1363A>C)
c.2680A>C (p.Thr894Pro)
c.1981A>C (p.Thr661Pro)
c.2728A>C (p.Thr910Pro)
 dbSNP
16g.3770717T>ACA394550998CREBBPc.2733A>T (p.Gln911His)
c.2619A>T (p.Gln873His)
c.1338A>T (p.Gln446His)
c.2688A>T (p.Gln896His)
c.2464-1364A>T (n.2464-1364A>T)
c.2679A>T (p.Gln893His)
c.1980A>T (p.Gln660His)
c.2727A>T (p.Gln909His)
 dbSNP
16g.3770717T>CCA493394894CREBBPc.2733A>G (p.Gln911=)
c.2619A>G (p.Gln873=)
c.1338A>G (p.Gln446=)
c.2688A>G (p.Gln896=)
c.2464-1364A>G (n.2464-1364A>G)
c.2679A>G (p.Gln893=)
c.1980A>G (p.Gln660=)
c.2727A>G (p.Gln909=)
 dbSNP gnomAD v4
16g.3770717T>GCA394551000CREBBPc.2733A>C (p.Gln911His)
c.2619A>C (p.Gln873His)
c.1338A>C (p.Gln446His)
c.2688A>C (p.Gln896His)
c.2464-1364A>C (n.2464-1364A>C)
c.2679A>C (p.Gln893His)
c.1980A>C (p.Gln660His)
c.2727A>C (p.Gln909His)
 dbSNP
16g.3770717T=CA2202950843CREBBPc.2733A= (p.Gln911=)
c.2619A= (p.Gln873=)
c.1338A= (p.Gln446=)
c.2688A= (p.Gln896=)
c.2464-1364A= (n.2464-1364A=)
c.2679A= (p.Gln893=)
c.1980A= (p.Gln660=)
c.2727A= (p.Gln909=)
16g.3770718T>ACA394551006CREBBPc.2732A>T (p.Gln911Leu)
c.2618A>T (p.Gln873Leu)
c.1337A>T (p.Gln446Leu)
c.2687A>T (p.Gln896Leu)
c.2464-1365A>T (n.2464-1365A>T)
c.2678A>T (p.Gln893Leu)
c.1979A>T (p.Gln660Leu)
c.2726A>T (p.Gln909Leu)
16g.3770718T>CCA394551004CREBBPc.2732A>G (p.Gln911Arg)
c.2618A>G (p.Gln873Arg)
c.1337A>G (p.Gln446Arg)
c.2687A>G (p.Gln896Arg)
c.2464-1365A>G (n.2464-1365A>G)
c.2678A>G (p.Gln893Arg)
c.1979A>G (p.Gln660Arg)
c.2726A>G (p.Gln909Arg)
16g.3770718T>GCA394551002CREBBPc.2732A>C (p.Gln911Pro)
c.2618A>C (p.Gln873Pro)
c.1337A>C (p.Gln446Pro)
c.2687A>C (p.Gln896Pro)
c.2464-1365A>C (n.2464-1365A>C)
c.2678A>C (p.Gln893Pro)
c.1979A>C (p.Gln660Pro)
c.2726A>C (p.Gln909Pro)
16g.3770719G>ACA394551008CREBBPc.2731C>T (p.Gln911Ter)
c.2617C>T (p.Gln873Ter)
c.1336C>T (p.Gln446Ter)
c.2686C>T (p.Gln896Ter)
c.2464-1366C>T (n.2464-1366C>T)
c.2677C>T (p.Gln893Ter)
c.1978C>T (p.Gln660Ter)
c.2725C>T (p.Gln909Ter)
 dbSNP COSMIC
16g.3770719G>CCA394551010CREBBPc.2731C>G (p.Gln911Glu)
c.2617C>G (p.Gln873Glu)
c.1336C>G (p.Gln446Glu)
c.2686C>G (p.Gln896Glu)
c.2464-1366C>G (n.2464-1366C>G)
c.2677C>G (p.Gln893Glu)
c.1978C>G (p.Gln660Glu)
c.2725C>G (p.Gln909Glu)
 dbSNP
16g.3770719G>TCA394551012CREBBPc.2731C>A (p.Gln911Lys)
c.2617C>A (p.Gln873Lys)
c.1336C>A (p.Gln446Lys)
c.2686C>A (p.Gln896Lys)
c.2464-1366C>A (n.2464-1366C>A)
c.2677C>A (p.Gln893Lys)
c.1978C>A (p.Gln660Lys)
c.2725C>A (p.Gln909Lys)
 dbSNP
16g.3770721dupCA2731730270CREBBPc.2731dup (p.Gln911ProfsTer?)
c.2617dup (p.Gln873ProfsTer?)
c.1336dup (p.Gln446ProfsTer?)
c.2686dup (p.Gln896ProfsTer?)
c.2464-1366dup (n.2464-1366dup)
c.2677dup (p.Gln893ProfsTer?)
c.1978dup (p.Gln660ProfsTer?)
c.2725dup (p.Gln909ProfsTer?)
 dbSNP
16g.3770720G>ACA493394898CREBBPc.2730C>T (p.Thr910=)
c.2616C>T (p.Thr872=)
c.1335C>T (p.Thr445=)
c.2685C>T (p.Thr895=)
c.2464-1367C>T (n.2464-1367C>T)
c.2676C>T (p.Thr892=)
c.1977C>T (p.Thr659=)
c.2724C>T (p.Thr908=)
 dbSNP
16g.3770720G>CCA493394899CREBBPc.2730C>G (p.Thr910=)
c.2616C>G (p.Thr872=)
c.1335C>G (p.Thr445=)
c.2685C>G (p.Thr895=)
c.2464-1367C>G (n.2464-1367C>G)
c.2676C>G (p.Thr892=)
c.1977C>G (p.Thr659=)
c.2724C>G (p.Thr908=)
 dbSNP gnomAD v4
16g.3770720G>TCA493394900CREBBPc.2730C>A (p.Thr910=)
c.2616C>A (p.Thr872=)
c.1335C>A (p.Thr445=)
c.2685C>A (p.Thr895=)
c.2464-1367C>A (n.2464-1367C>A)
c.2676C>A (p.Thr892=)
c.1977C>A (p.Thr659=)
c.2724C>A (p.Thr908=)
 dbSNP
16g.3770721G>ACA276969032CREBBPc.2729C>T (p.Thr910Ile)
c.2615C>T (p.Thr872Ile)
c.1334C>T (p.Thr445Ile)
c.2684C>T (p.Thr895Ile)
c.2464-1368C>T (n.2464-1368C>T)
c.2675C>T (p.Thr892Ile)
c.1976C>T (p.Thr659Ile)
c.2723C>T (p.Thr908Ile)
 dbSNP
16g.3770721G>CCA394551014CREBBPc.2729C>G (p.Thr910Ser)
c.2615C>G (p.Thr872Ser)
c.1334C>G (p.Thr445Ser)
c.2684C>G (p.Thr895Ser)
c.2464-1368C>G (n.2464-1368C>G)
c.2675C>G (p.Thr892Ser)
c.1976C>G (p.Thr659Ser)
c.2723C>G (p.Thr908Ser)
 dbSNP
16g.3770721G=CA2202950844CREBBPc.2729C= (p.Thr910=)
c.2615C= (p.Thr872=)
c.1334C= (p.Thr445=)
c.2684C= (p.Thr895=)
c.2464-1368C= (n.2464-1368C=)
c.2675C= (p.Thr892=)
c.1976C= (p.Thr659=)
c.2723C= (p.Thr908=)
16g.3770721G>TCA394551016CREBBPc.2729C>A (p.Thr910Asn)
c.2615C>A (p.Thr872Asn)
c.1334C>A (p.Thr445Asn)
c.2684C>A (p.Thr895Asn)
c.2464-1368C>A (n.2464-1368C>A)
c.2675C>A (p.Thr892Asn)
c.1976C>A (p.Thr659Asn)
c.2723C>A (p.Thr908Asn)
 dbSNP
16g.3770722T>ACA158166CREBBPc.2728A>T (p.Thr910Ser)
c.2614A>T (p.Thr872Ser)
c.1333A>T (p.Thr445Ser)
c.2683A>T (p.Thr895Ser)
c.2464-1369A>T (n.2464-1369A>T)
c.2674A>T (p.Thr892Ser)
c.1975A>T (p.Thr659Ser)
c.2722A>T (p.Thr908Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770722T>CCA171789CREBBPc.2728A>G (p.Thr910Ala)
c.2614A>G (p.Thr872Ala)
c.1333A>G (p.Thr445Ala)
c.2683A>G (p.Thr895Ala)
c.2464-1369A>G (n.2464-1369A>G)
c.2674A>G (p.Thr892Ala)
c.1975A>G (p.Thr659Ala)
c.2722A>G (p.Thr908Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770722T>GCA394551019CREBBPc.2728A>C (p.Thr910Pro)
c.2614A>C (p.Thr872Pro)
c.1333A>C (p.Thr445Pro)
c.2683A>C (p.Thr895Pro)
c.2464-1369A>C (n.2464-1369A>C)
c.2674A>C (p.Thr892Pro)
c.1975A>C (p.Thr659Pro)
c.2722A>C (p.Thr908Pro)
 dbSNP
16g.3770722T=CA2202950845CREBBPc.2728A= (p.Thr910=)
c.2614A= (p.Thr872=)
c.1333A= (p.Thr445=)
c.2683A= (p.Thr895=)
c.2464-1369A= (n.2464-1369A=)
c.2674A= (p.Thr892=)
c.1975A= (p.Thr659=)
c.2722A= (p.Thr908=)
16g.3770723A>CCA493394901CREBBPc.2727T>G (p.Ala909=)
c.2613T>G (p.Ala871=)
c.1332T>G (p.Ala444=)
c.2682T>G (p.Ala894=)
c.2464-1370T>G (n.2464-1370T>G)
c.2673T>G (p.Ala891=)
c.1974T>G (p.Ala658=)
c.2721T>G (p.Ala907=)
16g.3770723A>GCA493394903CREBBPc.2727T>C (p.Ala909=)
c.2613T>C (p.Ala871=)
c.1332T>C (p.Ala444=)
c.2682T>C (p.Ala894=)
c.2464-1370T>C (n.2464-1370T>C)
c.2673T>C (p.Ala891=)
c.1974T>C (p.Ala658=)
c.2721T>C (p.Ala907=)
 dbSNP gnomAD v4
16g.3770723A>TCA493394905CREBBPc.2727T>A (p.Ala909=)
c.2613T>A (p.Ala871=)
c.1332T>A (p.Ala444=)
c.2682T>A (p.Ala894=)
c.2464-1370T>A (n.2464-1370T>A)
c.2673T>A (p.Ala891=)
c.1974T>A (p.Ala658=)
c.2721T>A (p.Ala907=)
16g.3770724G>ACA7870043CREBBPc.2726C>T (p.Ala909Val)
c.2612C>T (p.Ala871Val)
c.1331C>T (p.Ala444Val)
c.2681C>T (p.Ala894Val)
c.2464-1371C>T (n.2464-1371C>T)
c.2672C>T (p.Ala891Val)
c.1973C>T (p.Ala658Val)
c.2720C>T (p.Ala907Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770724G>CCA394551021CREBBPc.2726C>G (p.Ala909Gly)
c.2612C>G (p.Ala871Gly)
c.1331C>G (p.Ala444Gly)
c.2681C>G (p.Ala894Gly)
c.2464-1371C>G (n.2464-1371C>G)
c.2672C>G (p.Ala891Gly)
c.1973C>G (p.Ala658Gly)
c.2720C>G (p.Ala907Gly)
 ClinVar dbSNP
16g.3770724G=CA2202950846CREBBPc.2726C= (p.Ala909=)
c.2612C= (p.Ala871=)
c.1331C= (p.Ala444=)
c.2681C= (p.Ala894=)
c.2464-1371C= (n.2464-1371C=)
c.2672C= (p.Ala891=)
c.1973C= (p.Ala658=)
c.2720C= (p.Ala907=)
16g.3770724G>TCA394551023CREBBPc.2726C>A (p.Ala909Asp)
c.2612C>A (p.Ala871Asp)
c.1331C>A (p.Ala444Asp)
c.2681C>A (p.Ala894Asp)
c.2464-1371C>A (n.2464-1371C>A)
c.2672C>A (p.Ala891Asp)
c.1973C>A (p.Ala658Asp)
c.2720C>A (p.Ala907Asp)
16g.3770725C>ACA394551026CREBBPc.2725G>T (p.Ala909Ser)
c.2611G>T (p.Ala871Ser)
c.1330G>T (p.Ala444Ser)
c.2680G>T (p.Ala894Ser)
c.2464-1372G>T (n.2464-1372G>T)
c.2671G>T (p.Ala891Ser)
c.1972G>T (p.Ala658Ser)
c.2719G>T (p.Ala907Ser)
 dbSNP
16g.3770725C>GCA394551028CREBBPc.2725G>C (p.Ala909Pro)
c.2611G>C (p.Ala871Pro)
c.1330G>C (p.Ala444Pro)
c.2680G>C (p.Ala894Pro)
c.2464-1372G>C (n.2464-1372G>C)
c.2671G>C (p.Ala891Pro)
c.1972G>C (p.Ala658Pro)
c.2719G>C (p.Ala907Pro)
 dbSNP
16g.3770725C>TCA394551030CREBBPc.2725G>A (p.Ala909Thr)
c.2611G>A (p.Ala871Thr)
c.1330G>A (p.Ala444Thr)
c.2680G>A (p.Ala894Thr)
c.2464-1372G>A (n.2464-1372G>A)
c.2671G>A (p.Ala891Thr)
c.1972G>A (p.Ala658Thr)
c.2719G>A (p.Ala907Thr)
 dbSNP
16g.3770726A>CCA394551032CREBBPc.2724T>G (p.Ser908Arg)
c.2610T>G (p.Ser870Arg)
c.1329T>G (p.Ser443Arg)
c.2679T>G (p.Ser893Arg)
c.2464-1373T>G (n.2464-1373T>G)
c.2670T>G (p.Ser890Arg)
c.1971T>G (p.Ser657Arg)
c.2718T>G (p.Ser906Arg)
 dbSNP
16g.3770726A>GCA493394910CREBBPc.2724T>C (p.Ser908=)
c.2610T>C (p.Ser870=)
c.1329T>C (p.Ser443=)
c.2679T>C (p.Ser893=)
c.2464-1373T>C (n.2464-1373T>C)
c.2670T>C (p.Ser890=)
c.1971T>C (p.Ser657=)
c.2718T>C (p.Ser906=)
16g.3770726A>TCA394551034CREBBPc.2724T>A (p.Ser908Arg)
c.2610T>A (p.Ser870Arg)
c.1329T>A (p.Ser443Arg)
c.2679T>A (p.Ser893Arg)
c.2464-1373T>A (n.2464-1373T>A)
c.2670T>A (p.Ser890Arg)
c.1971T>A (p.Ser657Arg)
c.2718T>A (p.Ser906Arg)
 dbSNP gnomAD v4
16g.3770727C>ACA394551037CREBBPc.2723G>T (p.Ser908Ile)
c.2609G>T (p.Ser870Ile)
c.1328G>T (p.Ser443Ile)
c.2678G>T (p.Ser893Ile)
c.2464-1374G>T (n.2464-1374G>T)
c.2669G>T (p.Ser890Ile)
c.1970G>T (p.Ser657Ile)
c.2717G>T (p.Ser906Ile)
 dbSNP
16g.3770727C=CA2202950847CREBBPc.2723G= (p.Ser908=)
c.2609G= (p.Ser870=)
c.1328G= (p.Ser443=)
c.2678G= (p.Ser893=)
c.2464-1374G= (n.2464-1374G=)
c.2669G= (p.Ser890=)
c.1970G= (p.Ser657=)
c.2717G= (p.Ser906=)
16g.3770727C>GCA394551038CREBBPc.2723G>C (p.Ser908Thr)
c.2609G>C (p.Ser870Thr)
c.1328G>C (p.Ser443Thr)
c.2678G>C (p.Ser893Thr)
c.2464-1374G>C (n.2464-1374G>C)
c.2669G>C (p.Ser890Thr)
c.1970G>C (p.Ser657Thr)
c.2717G>C (p.Ser906Thr)
 dbSNP
16g.3770727C>TCA394551040CREBBPc.2723G>A (p.Ser908Asn)
c.2609G>A (p.Ser870Asn)
c.1328G>A (p.Ser443Asn)
c.2678G>A (p.Ser893Asn)
c.2464-1374G>A (n.2464-1374G>A)
c.2669G>A (p.Ser890Asn)
c.1970G>A (p.Ser657Asn)
c.2717G>A (p.Ser906Asn)
 dbSNP gnomAD v4
16g.3770728T>ACA394551045CREBBPc.2722A>T (p.Ser908Cys)
c.2608A>T (p.Ser870Cys)
c.1327A>T (p.Ser443Cys)
c.2677A>T (p.Ser893Cys)
c.2464-1375A>T (n.2464-1375A>T)
c.2668A>T (p.Ser890Cys)
c.1969A>T (p.Ser657Cys)
c.2716A>T (p.Ser906Cys)
16g.3770728T>CCA7870044CREBBPc.2722A>G (p.Ser908Gly)
c.2608A>G (p.Ser870Gly)
c.1327A>G (p.Ser443Gly)
c.2677A>G (p.Ser893Gly)
c.2464-1375A>G (n.2464-1375A>G)
c.2668A>G (p.Ser890Gly)
c.1969A>G (p.Ser657Gly)
c.2716A>G (p.Ser906Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770728T>GCA394551043CREBBPc.2722A>C (p.Ser908Arg)
c.2608A>C (p.Ser870Arg)
c.1327A>C (p.Ser443Arg)
c.2677A>C (p.Ser893Arg)
c.2464-1375A>C (n.2464-1375A>C)
c.2668A>C (p.Ser890Arg)
c.1969A>C (p.Ser657Arg)
c.2716A>C (p.Ser906Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.3770728T=CA2202950848CREBBPc.2722A= (p.Ser908=)
c.2608A= (p.Ser870=)
c.1327A= (p.Ser443=)
c.2677A= (p.Ser893=)
c.2464-1375A= (n.2464-1375A=)
c.2668A= (p.Ser890=)
c.1969A= (p.Ser657=)
c.2716A= (p.Ser906=)
16g.3770729G>ACA493394914CREBBPc.2721C>T (p.Pro907=)
c.2607C>T (p.Pro869=)
c.1326C>T (p.Pro442=)
c.2676C>T (p.Pro892=)
c.2464-1376C>T (n.2464-1376C>T)
c.2667C>T (p.Pro889=)
c.1968C>T (p.Pro656=)
c.2715C>T (p.Pro905=)
 gnomAD v4
16g.3770729G>CCA493394916CREBBPc.2721C>G (p.Pro907=)
c.2607C>G (p.Pro869=)
c.1326C>G (p.Pro442=)
c.2676C>G (p.Pro892=)
c.2464-1376C>G (n.2464-1376C>G)
c.2667C>G (p.Pro889=)
c.1968C>G (p.Pro656=)
c.2715C>G (p.Pro905=)
16g.3770729G>TCA493394918CREBBPc.2721C>A (p.Pro907=)
c.2607C>A (p.Pro869=)
c.1326C>A (p.Pro442=)
c.2676C>A (p.Pro892=)
c.2464-1376C>A (n.2464-1376C>A)
c.2667C>A (p.Pro889=)
c.1968C>A (p.Pro656=)
c.2715C>A (p.Pro905=)
16g.3770730G>ACA394551047CREBBPc.2720C>T (p.Pro907Leu)
c.2606C>T (p.Pro869Leu)
c.1325C>T (p.Pro442Leu)
c.2675C>T (p.Pro892Leu)
c.2464-1377C>T (n.2464-1377C>T)
c.2666C>T (p.Pro889Leu)
c.1967C>T (p.Pro656Leu)
c.2714C>T (p.Pro905Leu)
 dbSNP
16g.3770730G>CCA394551051CREBBPc.2720C>G (p.Pro907Arg)
c.2606C>G (p.Pro869Arg)
c.1325C>G (p.Pro442Arg)
c.2675C>G (p.Pro892Arg)
c.2464-1377C>G (n.2464-1377C>G)
c.2666C>G (p.Pro889Arg)
c.1967C>G (p.Pro656Arg)
c.2714C>G (p.Pro905Arg)
 dbSNP
16g.3770730G>TCA394551048CREBBPc.2720C>A (p.Pro907His)
c.2606C>A (p.Pro869His)
c.1325C>A (p.Pro442His)
c.2675C>A (p.Pro892His)
c.2464-1377C>A (n.2464-1377C>A)
c.2666C>A (p.Pro889His)
c.1967C>A (p.Pro656His)
c.2714C>A (p.Pro905His)
 dbSNP
16g.3770730_3770737delinsGGCACTGACA2202950849CREBBPc.2713_2720delinsTCAGTGCC (p.Ser905=)
c.2599_2606delinsTCAGTGCC (p.Ser867=)
c.1318_1325delinsTCAGTGCC (p.Ser440=)
c.2668_2675delinsTCAGTGCC (p.Ser890=)
c.2464-1384_2464-1377delinsTCAGTGCC (n.2464-1384_2464-1377delinsTCAGTGCC)
c.2659_2666delinsTCAGTGCC (p.Ser887=)
c.1960_1967delinsTCAGTGCC (p.Ser654=)
c.2707_2714delinsTCAGTGCC (p.Ser903=)
16g.3770731G>ACA394551053CREBBPc.2719C>T (p.Pro907Ser)
c.2605C>T (p.Pro869Ser)
c.1324C>T (p.Pro442Ser)
c.2674C>T (p.Pro892Ser)
c.2464-1378C>T (n.2464-1378C>T)
c.2665C>T (p.Pro889Ser)
c.1966C>T (p.Pro656Ser)
c.2713C>T (p.Pro905Ser)
 dbSNP gnomAD v4
16g.3770731G>CCA394551057CREBBPc.2719C>G (p.Pro907Ala)
c.2605C>G (p.Pro869Ala)
c.1324C>G (p.Pro442Ala)
c.2674C>G (p.Pro892Ala)
c.2464-1378C>G (n.2464-1378C>G)
c.2665C>G (p.Pro889Ala)
c.1966C>G (p.Pro656Ala)
c.2713C>G (p.Pro905Ala)
 dbSNP
16g.3770731G=CA2202950850CREBBPc.2719C= (p.Pro907=)
c.2605C= (p.Pro869=)
c.1324C= (p.Pro442=)
c.2674C= (p.Pro892=)
c.2464-1378C= (n.2464-1378C=)
c.2665C= (p.Pro889=)
c.1966C= (p.Pro656=)
c.2713C= (p.Pro905=)
16g.3770731G>TCA394551055CREBBPc.2719C>A (p.Pro907Thr)
c.2605C>A (p.Pro869Thr)
c.1324C>A (p.Pro442Thr)
c.2674C>A (p.Pro892Thr)
c.2464-1378C>A (n.2464-1378C>A)
c.2665C>A (p.Pro889Thr)
c.1966C>A (p.Pro656Thr)
c.2713C>A (p.Pro905Thr)
 dbSNP
16g.3770733_3770739delCA915949093CREBBPc.2713_2719del (p.Ser905ProfsTer20)
c.2599_2605del (p.Ser867ProfsTer20)
c.1318_1324del (p.Ser440ProfsTer20)
c.2668_2674del (p.Ser890ProfsTer20)
c.2464-1384_2464-1378del (n.2464-1384_2464-1378del)
c.2659_2665del (p.Ser887ProfsTer20)
c.1960_1966del (p.Ser654ProfsTer20)
c.2707_2713del (p.Ser903ProfsTer20)
 ClinVar dbSNP
16g.3770732C>ACA493394920CREBBPc.2718G>T (p.Val906=)
c.2604G>T (p.Val868=)
c.1323G>T (p.Val441=)
c.2673G>T (p.Val891=)
c.2464-1379G>T (n.2464-1379G>T)
c.2664G>T (p.Val888=)
c.1965G>T (p.Val655=)
c.2712G>T (p.Val904=)
 dbSNP
16g.3770732C>GCA493394922CREBBPc.2718G>C (p.Val906=)
c.2604G>C (p.Val868=)
c.1323G>C (p.Val441=)
c.2673G>C (p.Val891=)
c.2464-1379G>C (n.2464-1379G>C)
c.2664G>C (p.Val888=)
c.1965G>C (p.Val655=)
c.2712G>C (p.Val904=)
 dbSNP
16g.3770732C>TCA493394921CREBBPc.2718G>A (p.Val906=)
c.2604G>A (p.Val868=)
c.1323G>A (p.Val441=)
c.2673G>A (p.Val891=)
c.2464-1379G>A (n.2464-1379G>A)
c.2664G>A (p.Val888=)
c.1965G>A (p.Val655=)
c.2712G>A (p.Val904=)
 dbSNP gnomAD v4
16g.3770733A>CCA394551059CREBBPc.2717T>G (p.Val906Gly)
c.2603T>G (p.Val868Gly)
c.1322T>G (p.Val441Gly)
c.2672T>G (p.Val891Gly)
c.2464-1380T>G (n.2464-1380T>G)
c.2663T>G (p.Val888Gly)
c.1964T>G (p.Val655Gly)
c.2711T>G (p.Val904Gly)
 dbSNP
16g.3770733A>GCA394551060CREBBPc.2717T>C (p.Val906Ala)
c.2603T>C (p.Val868Ala)
c.1322T>C (p.Val441Ala)
c.2672T>C (p.Val891Ala)
c.2464-1380T>C (n.2464-1380T>C)
c.2663T>C (p.Val888Ala)
c.1964T>C (p.Val655Ala)
c.2711T>C (p.Val904Ala)
 dbSNP
16g.3770733A>TCA394551062CREBBPc.2717T>A (p.Val906Glu)
c.2603T>A (p.Val868Glu)
c.1322T>A (p.Val441Glu)
c.2672T>A (p.Val891Glu)
c.2464-1380T>A (n.2464-1380T>A)
c.2663T>A (p.Val888Glu)
c.1964T>A (p.Val655Glu)
c.2711T>A (p.Val904Glu)
 dbSNP
16g.3770734C>ACA394551064CREBBPc.2716G>T (p.Val906Leu)
c.2602G>T (p.Val868Leu)
c.1321G>T (p.Val441Leu)
c.2671G>T (p.Val891Leu)
c.2464-1381G>T (n.2464-1381G>T)
c.2662G>T (p.Val888Leu)
c.1963G>T (p.Val655Leu)
c.2710G>T (p.Val904Leu)
 dbSNP
16g.3770734C>GCA394551065CREBBPc.2716G>C (p.Val906Leu)
c.2602G>C (p.Val868Leu)
c.1321G>C (p.Val441Leu)
c.2671G>C (p.Val891Leu)
c.2464-1381G>C (n.2464-1381G>C)
c.2662G>C (p.Val888Leu)
c.1963G>C (p.Val655Leu)
c.2710G>C (p.Val904Leu)
 ClinVar dbSNP
16g.3770734C>TCA394551067CREBBPc.2716G>A (p.Val906Met)
c.2602G>A (p.Val868Met)
c.1321G>A (p.Val441Met)
c.2671G>A (p.Val891Met)
c.2464-1381G>A (n.2464-1381G>A)
c.2662G>A (p.Val888Met)
c.1963G>A (p.Val655Met)
c.2710G>A (p.Val904Met)
 dbSNP
16g.3770734_3770735delCA2695222748CREBBPc.2715_2716del (p.Val906AlafsTer?)
c.2601_2602del (p.Val868AlafsTer?)
c.1320_1321del (p.Val441AlafsTer?)
c.2670_2671del (p.Val891AlafsTer?)
c.2464-1382_2464-1381del (n.2464-1382_2464-1381del)
c.2661_2662del (p.Val888AlafsTer?)
c.1962_1963del (p.Val655AlafsTer?)
c.2709_2710del (p.Val904AlafsTer?)
16g.3770735T>ACA493394927CREBBPc.2715A>T (p.Ser905=)
c.2601A>T (p.Ser867=)
c.1320A>T (p.Ser440=)
c.2670A>T (p.Ser890=)
c.2464-1382A>T (n.2464-1382A>T)
c.2661A>T (p.Ser887=)
c.1962A>T (p.Ser654=)
c.2709A>T (p.Ser903=)
 dbSNP
16g.3770735T>CCA493394929CREBBPc.2715A>G (p.Ser905=)
c.2601A>G (p.Ser867=)
c.1320A>G (p.Ser440=)
c.2670A>G (p.Ser890=)
c.2464-1382A>G (n.2464-1382A>G)
c.2661A>G (p.Ser887=)
c.1962A>G (p.Ser654=)
c.2709A>G (p.Ser903=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3770735T>GCA493394931CREBBPc.2715A>C (p.Ser905=)
c.2601A>C (p.Ser867=)
c.1320A>C (p.Ser440=)
c.2670A>C (p.Ser890=)
c.2464-1382A>C (n.2464-1382A>C)
c.2661A>C (p.Ser887=)
c.1962A>C (p.Ser654=)
c.2709A>C (p.Ser903=)
 dbSNP
16g.3770735T=CA2202950851CREBBPc.2715A= (p.Ser905=)
c.2601A= (p.Ser867=)
c.1320A= (p.Ser440=)
c.2670A= (p.Ser890=)
c.2464-1382A= (n.2464-1382A=)
c.2661A= (p.Ser887=)
c.1962A= (p.Ser654=)
c.2709A= (p.Ser903=)
16g.3770736G>ACA394551069CREBBPc.2714C>T (p.Ser905Leu)
c.2600C>T (p.Ser867Leu)
c.1319C>T (p.Ser440Leu)
c.2669C>T (p.Ser890Leu)
c.2464-1383C>T (n.2464-1383C>T)
c.2660C>T (p.Ser887Leu)
c.1961C>T (p.Ser654Leu)
c.2708C>T (p.Ser903Leu)
 dbSNP gnomAD v4
16g.3770736G>CCA394551070CREBBPc.2714C>G (p.Ser905Ter)
c.2600C>G (p.Ser867Ter)
c.1319C>G (p.Ser440Ter)
c.2669C>G (p.Ser890Ter)
c.2464-1383C>G (n.2464-1383C>G)
c.2660C>G (p.Ser887Ter)
c.1961C>G (p.Ser654Ter)
c.2708C>G (p.Ser903Ter)
 dbSNP
16g.3770736G=CA2202950852CREBBPc.2714C= (p.Ser905=)
c.2600C= (p.Ser867=)
c.1319C= (p.Ser440=)
c.2669C= (p.Ser890=)
c.2464-1383C= (n.2464-1383C=)
c.2660C= (p.Ser887=)
c.1961C= (p.Ser654=)
c.2708C= (p.Ser903=)
16g.3770736G>TCA394551072CREBBPc.2714C>A (p.Ser905Ter)
c.2600C>A (p.Ser867Ter)
c.1319C>A (p.Ser440Ter)
c.2669C>A (p.Ser890Ter)
c.2464-1383C>A (n.2464-1383C>A)
c.2660C>A (p.Ser887Ter)
c.1961C>A (p.Ser654Ter)
c.2708C>A (p.Ser903Ter)
 dbSNP
16g.3770737A=CA2202950853CREBBPc.2713T= (p.Ser905=)
c.2599T= (p.Ser867=)
c.1318T= (p.Ser440=)
c.2668T= (p.Ser890=)
c.2464-1384T= (n.2464-1384T=)
c.2659T= (p.Ser887=)
c.1960T= (p.Ser654=)
c.2707T= (p.Ser903=)
16g.3770737A>CCA394551074CREBBPc.2713T>G (p.Ser905Ala)
c.2599T>G (p.Ser867Ala)
c.1318T>G (p.Ser440Ala)
c.2668T>G (p.Ser890Ala)
c.2464-1384T>G (n.2464-1384T>G)
c.2659T>G (p.Ser887Ala)
c.1960T>G (p.Ser654Ala)
c.2707T>G (p.Ser903Ala)
16g.3770737A>GCA394551076CREBBPc.2713T>C (p.Ser905Pro)
c.2599T>C (p.Ser867Pro)
c.1318T>C (p.Ser440Pro)
c.2668T>C (p.Ser890Pro)
c.2464-1384T>C (n.2464-1384T>C)
c.2659T>C (p.Ser887Pro)
c.1960T>C (p.Ser654Pro)
c.2707T>C (p.Ser903Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.3770737A>TCA394551078CREBBPc.2713T>A (p.Ser905Thr)
c.2599T>A (p.Ser867Thr)
c.1318T>A (p.Ser440Thr)
c.2668T>A (p.Ser890Thr)
c.2464-1384T>A (n.2464-1384T>A)
c.2659T>A (p.Ser887Thr)
c.1960T>A (p.Ser654Thr)
c.2707T>A (p.Ser903Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3770738G>ACA493394933CREBBPc.2712C>T (p.Gly904=)
c.2598C>T (p.Gly866=)
c.1317C>T (p.Gly439=)
c.2667C>T (p.Gly889=)
c.2464-1385C>T (n.2464-1385C>T)
c.2658C>T (p.Gly886=)
c.1959C>T (p.Gly653=)
c.2706C>T (p.Gly902=)
16g.3770738G>CCA493394934CREBBPc.2712C>G (p.Gly904=)
c.2598C>G (p.Gly866=)
c.1317C>G (p.Gly439=)
c.2667C>G (p.Gly889=)
c.2464-1385C>G (n.2464-1385C>G)
c.2658C>G (p.Gly886=)
c.1959C>G (p.Gly653=)
c.2706C>G (p.Gly902=)
 ClinVar
16g.3770738G=CA2202950854CREBBPc.2712C= (p.Gly904=)
c.2598C= (p.Gly866=)
c.1317C= (p.Gly439=)
c.2667C= (p.Gly889=)
c.2464-1385C= (n.2464-1385C=)
c.2658C= (p.Gly886=)
c.1959C= (p.Gly653=)
c.2706C= (p.Gly902=)
16g.3770738G>TCA493394935CREBBPc.2712C>A (p.Gly904=)
c.2598C>A (p.Gly866=)
c.1317C>A (p.Gly439=)
c.2667C>A (p.Gly889=)
c.2464-1385C>A (n.2464-1385C>A)
c.2658C>A (p.Gly886=)
c.1959C>A (p.Gly653=)
c.2706C>A (p.Gly902=)
16g.3770739C>ACA276969041CREBBPc.2711G>T (p.Gly904Val)
c.2597G>T (p.Gly866Val)
c.1316G>T (p.Gly439Val)
c.2666G>T (p.Gly889Val)
c.2464-1386G>T (n.2464-1386G>T)
c.2657G>T (p.Gly886Val)
c.1958G>T (p.Gly653Val)
c.2705G>T (p.Gly902Val)
 ClinVar dbSNP gnomAD v4
16g.3770739C=CA2202950855CREBBPc.2711G= (p.Gly904=)
c.2597G= (p.Gly866=)
c.1316G= (p.Gly439=)
c.2666G= (p.Gly889=)
c.2464-1386G= (n.2464-1386G=)
c.2657G= (p.Gly886=)
c.1958G= (p.Gly653=)
c.2705G= (p.Gly902=)
16g.3770739C>GCA394551082CREBBPc.2711G>C (p.Gly904Ala)
c.2597G>C (p.Gly866Ala)
c.1316G>C (p.Gly439Ala)
c.2666G>C (p.Gly889Ala)
c.2464-1386G>C (n.2464-1386G>C)
c.2657G>C (p.Gly886Ala)
c.1958G>C (p.Gly653Ala)
c.2705G>C (p.Gly902Ala)
 dbSNP
16g.3770739C>TCA394551081CREBBPc.2711G>A (p.Gly904Asp)
c.2597G>A (p.Gly866Asp)
c.1316G>A (p.Gly439Asp)
c.2666G>A (p.Gly889Asp)
c.2464-1386G>A (n.2464-1386G>A)
c.2657G>A (p.Gly886Asp)
c.1958G>A (p.Gly653Asp)
c.2705G>A (p.Gly902Asp)
 dbSNP
16g.3770740dupCA276969039CREBBPc.2711dup (p.Ser905LeufsTer?)
c.2597dup (p.Ser867LeufsTer?)
c.1316dup (p.Ser440LeufsTer?)
c.2666dup (p.Ser890LeufsTer?)
c.2464-1386dup (n.2464-1386dup)
c.2657dup (p.Ser887LeufsTer?)
c.1958dup (p.Ser654LeufsTer?)
c.2705dup (p.Ser903LeufsTer?)
 dbSNP
16g.3770740C>ACA394551084CREBBPc.2710G>T (p.Gly904Cys)
c.2596G>T (p.Gly866Cys)
c.1315G>T (p.Gly439Cys)
c.2665G>T (p.Gly889Cys)
c.2464-1387G>T (n.2464-1387G>T)
c.2656G>T (p.Gly886Cys)
c.1957G>T (p.Gly653Cys)
c.2704G>T (p.Gly902Cys)
 dbSNP
16g.3770740C>GCA394551085CREBBPc.2710G>C (p.Gly904Arg)
c.2596G>C (p.Gly866Arg)
c.1315G>C (p.Gly439Arg)
c.2665G>C (p.Gly889Arg)
c.2464-1387G>C (n.2464-1387G>C)
c.2656G>C (p.Gly886Arg)
c.1957G>C (p.Gly653Arg)
c.2704G>C (p.Gly902Arg)
 dbSNP
16g.3770740C>TCA394551088CREBBPc.2710G>A (p.Gly904Ser)
c.2596G>A (p.Gly866Ser)
c.1315G>A (p.Gly439Ser)
c.2665G>A (p.Gly889Ser)
c.2464-1387G>A (n.2464-1387G>A)
c.2656G>A (p.Gly886Ser)
c.1957G>A (p.Gly653Ser)
c.2704G>A (p.Gly902Ser)
 dbSNP
16g.3770741A>CCA493394939CREBBPc.2709T>G (p.Pro903=)
c.2595T>G (p.Pro865=)
c.1314T>G (p.Pro438=)
c.2664T>G (p.Pro888=)
c.2464-1388T>G (n.2464-1388T>G)
c.2655T>G (p.Pro885=)
c.1956T>G (p.Pro652=)
c.2703T>G (p.Pro901=)
16g.3770741A>GCA493394940CREBBPc.2709T>C (p.Pro903=)
c.2595T>C (p.Pro865=)
c.1314T>C (p.Pro438=)
c.2664T>C (p.Pro888=)
c.2464-1388T>C (n.2464-1388T>C)
c.2655T>C (p.Pro885=)
c.1956T>C (p.Pro652=)
c.2703T>C (p.Pro901=)
 dbSNP
16g.3770741A>TCA493394941CREBBPc.2709T>A (p.Pro903=)
c.2595T>A (p.Pro865=)
c.1314T>A (p.Pro438=)
c.2664T>A (p.Pro888=)
c.2464-1388T>A (n.2464-1388T>A)
c.2655T>A (p.Pro885=)
c.1956T>A (p.Pro652=)
c.2703T>A (p.Pro901=)
 dbSNP
16g.3770741_3770753delinsAGGAGTCGGGGTGCA2202950856CREBBPc.2697_2709delinsCACCCCGACTCCT (p.Pro899=)
c.2583_2595delinsCACCCCGACTCCT (p.Pro861=)
c.1302_1314delinsCACCCCGACTCCT (p.Pro434=)
c.2652_2664delinsCACCCCGACTCCT (p.Pro884=)
c.2464-1400_2464-1388delinsCACCCCGACTCCT (n.2464-1400_2464-1388delinsCACCCCGACTCCT)
c.2643_2655delinsCACCCCGACTCCT (p.Pro881=)
c.1944_1956delinsCACCCCGACTCCT (p.Pro648=)
c.2691_2703delinsCACCCCGACTCCT (p.Pro897=)
16g.3770742G>ACA394551090CREBBPc.2708C>T (p.Pro903Leu)
c.2594C>T (p.Pro865Leu)
c.1313C>T (p.Pro438Leu)
c.2663C>T (p.Pro888Leu)
c.2464-1389C>T (n.2464-1389C>T)
c.2654C>T (p.Pro885Leu)
c.1955C>T (p.Pro652Leu)
c.2702C>T (p.Pro901Leu)
 dbSNP
16g.3770742G>CCA394551091CREBBPc.2708C>G (p.Pro903Arg)
c.2594C>G (p.Pro865Arg)
c.1313C>G (p.Pro438Arg)
c.2663C>G (p.Pro888Arg)
c.2464-1389C>G (n.2464-1389C>G)
c.2654C>G (p.Pro885Arg)
c.1955C>G (p.Pro652Arg)
c.2702C>G (p.Pro901Arg)
 dbSNP gnomAD v4
16g.3770742G>TCA394551093CREBBPc.2708C>A (p.Pro903His)
c.2594C>A (p.Pro865His)
c.1313C>A (p.Pro438His)
c.2663C>A (p.Pro888His)
c.2464-1389C>A (n.2464-1389C>A)
c.2654C>A (p.Pro885His)
c.1955C>A (p.Pro652His)
c.2702C>A (p.Pro901His)
 dbSNP COSMIC
16g.3770748_3770759delCA720703450CREBBPc.2697_2708del (p.Thr900_Pro903del)
c.2583_2594del (p.Thr862_Pro865del)
c.1302_1313del (p.Thr435_Pro438del)
c.2652_2663del (p.Thr885_Pro888del)
c.2464-1400_2464-1389del (n.2464-1400_2464-1389del)
c.2643_2654del (p.Thr882_Pro885del)
c.1944_1955del (p.Thr649_Pro652del)
c.2691_2702del (p.Thr898_Pro901del)
 dbSNP gnomAD v3 gnomAD v4
16g.3770743G>ACA394551095CREBBPc.2707C>T (p.Pro903Ser)
c.2593C>T (p.Pro865Ser)
c.1312C>T (p.Pro438Ser)
c.2662C>T (p.Pro888Ser)
c.2464-1390C>T (n.2464-1390C>T)
c.2653C>T (p.Pro885Ser)
c.1954C>T (p.Pro652Ser)
c.2701C>T (p.Pro901Ser)
 dbSNP gnomAD v4
16g.3770743G>CCA394551097CREBBPc.2707C>G (p.Pro903Ala)
c.2593C>G (p.Pro865Ala)
c.1312C>G (p.Pro438Ala)
c.2662C>G (p.Pro888Ala)
c.2464-1390C>G (n.2464-1390C>G)
c.2653C>G (p.Pro885Ala)
c.1954C>G (p.Pro652Ala)
c.2701C>G (p.Pro901Ala)
 dbSNP gnomAD v4
16g.3770743G>TCA394551099CREBBPc.2707C>A (p.Pro903Thr)
c.2593C>A (p.Pro865Thr)
c.1312C>A (p.Pro438Thr)
c.2662C>A (p.Pro888Thr)
c.2464-1390C>A (n.2464-1390C>A)
c.2653C>A (p.Pro885Thr)
c.1954C>A (p.Pro652Thr)
c.2701C>A (p.Pro901Thr)
 dbSNP gnomAD v4
16g.3770744A>CCA493394943CREBBPc.2706T>G (p.Thr902=)
c.2592T>G (p.Thr864=)
c.1311T>G (p.Thr437=)
c.2661T>G (p.Thr887=)
c.2464-1391T>G (n.2464-1391T>G)
c.2652T>G (p.Thr884=)
c.1953T>G (p.Thr651=)
c.2700T>G (p.Thr900=)
16g.3770744A>GCA493394947CREBBPc.2706T>C (p.Thr902=)
c.2592T>C (p.Thr864=)
c.1311T>C (p.Thr437=)
c.2661T>C (p.Thr887=)
c.2464-1391T>C (n.2464-1391T>C)
c.2652T>C (p.Thr884=)
c.1953T>C (p.Thr651=)
c.2700T>C (p.Thr900=)
16g.3770744A>TCA493394945CREBBPc.2706T>A (p.Thr902=)
c.2592T>A (p.Thr864=)
c.1311T>A (p.Thr437=)
c.2661T>A (p.Thr887=)
c.2464-1391T>A (n.2464-1391T>A)
c.2652T>A (p.Thr884=)
c.1953T>A (p.Thr651=)
c.2700T>A (p.Thr900=)
16g.3770745G>ACA394551105CREBBPc.2705C>T (p.Thr902Ile)
c.2591C>T (p.Thr864Ile)
c.1310C>T (p.Thr437Ile)
c.2660C>T (p.Thr887Ile)
c.2464-1392C>T (n.2464-1392C>T)
c.2651C>T (p.Thr884Ile)
c.1952C>T (p.Thr651Ile)
c.2699C>T (p.Thr900Ile)
 ClinVar dbSNP COSMIC
16g.3770745G>CCA394551103CREBBPc.2705C>G (p.Thr902Ser)
c.2591C>G (p.Thr864Ser)
c.1310C>G (p.Thr437Ser)
c.2660C>G (p.Thr887Ser)
c.2464-1392C>G (n.2464-1392C>G)
c.2651C>G (p.Thr884Ser)
c.1952C>G (p.Thr651Ser)
c.2699C>G (p.Thr900Ser)
 dbSNP
16g.3770745G=CA2202950857CREBBPc.2705C= (p.Thr902=)
c.2591C= (p.Thr864=)
c.1310C= (p.Thr437=)
c.2660C= (p.Thr887=)
c.2464-1392C= (n.2464-1392C=)
c.2651C= (p.Thr884=)
c.1952C= (p.Thr651=)
c.2699C= (p.Thr900=)
16g.3770745G>TCA394551101CREBBPc.2705C>A (p.Thr902Asn)
c.2591C>A (p.Thr864Asn)
c.1310C>A (p.Thr437Asn)
c.2660C>A (p.Thr887Asn)
c.2464-1392C>A (n.2464-1392C>A)
c.2651C>A (p.Thr884Asn)
c.1952C>A (p.Thr651Asn)
c.2699C>A (p.Thr900Asn)
 ClinVar dbSNP gnomAD v4
16g.3770746T>ACA394551107CREBBPc.2704A>T (p.Thr902Ser)
c.2590A>T (p.Thr864Ser)
c.1309A>T (p.Thr437Ser)
c.2659A>T (p.Thr887Ser)
c.2464-1393A>T (n.2464-1393A>T)
c.2650A>T (p.Thr884Ser)
c.1951A>T (p.Thr651Ser)
c.2698A>T (p.Thr900Ser)
 dbSNP
16g.3770746T>CCA394551108CREBBPc.2704A>G (p.Thr902Ala)
c.2590A>G (p.Thr864Ala)
c.1309A>G (p.Thr437Ala)
c.2659A>G (p.Thr887Ala)
c.2464-1393A>G (n.2464-1393A>G)
c.2650A>G (p.Thr884Ala)
c.1951A>G (p.Thr651Ala)
c.2698A>G (p.Thr900Ala)
 dbSNP
16g.3770746T>GCA394551111CREBBPc.2704A>C (p.Thr902Pro)
c.2590A>C (p.Thr864Pro)
c.1309A>C (p.Thr437Pro)
c.2659A>C (p.Thr887Pro)
c.2464-1393A>C (n.2464-1393A>C)
c.2650A>C (p.Thr884Pro)
c.1951A>C (p.Thr651Pro)
c.2698A>C (p.Thr900Pro)
 dbSNP
16g.3770747C>ACA493394951CREBBPc.2703G>T (p.Pro901=)
c.2589G>T (p.Pro863=)
c.1308G>T (p.Pro436=)
c.2658G>T (p.Pro886=)
c.2464-1394G>T (n.2464-1394G>T)
c.2649G>T (p.Pro883=)
c.1950G>T (p.Pro650=)
c.2697G>T (p.Pro899=)
 dbSNP
16g.3770747C=CA2202950858CREBBPc.2703G= (p.Pro901=)
c.2589G= (p.Pro863=)
c.1308G= (p.Pro436=)
c.2658G= (p.Pro886=)
c.2464-1394G= (n.2464-1394G=)
c.2649G= (p.Pro883=)
c.1950G= (p.Pro650=)
c.2697G= (p.Pro899=)
16g.3770747C>GCA493394952CREBBPc.2703G>C (p.Pro901=)
c.2589G>C (p.Pro863=)
c.1308G>C (p.Pro436=)
c.2658G>C (p.Pro886=)
c.2464-1394G>C (n.2464-1394G>C)
c.2649G>C (p.Pro883=)
c.1950G>C (p.Pro650=)
c.2697G>C (p.Pro899=)
 dbSNP
16g.3770747C>TCA7870045CREBBPc.2703G>A (p.Pro901=)
c.2589G>A (p.Pro863=)
c.1308G>A (p.Pro436=)
c.2658G>A (p.Pro886=)
c.2464-1394G>A (n.2464-1394G>A)
c.2649G>A (p.Pro883=)
c.1950G>A (p.Pro650=)
c.2697G>A (p.Pro899=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770748G>ACA394551113CREBBPc.2702C>T (p.Pro901Leu)
c.2588C>T (p.Pro863Leu)
c.1307C>T (p.Pro436Leu)
c.2657C>T (p.Pro886Leu)
c.2464-1395C>T (n.2464-1395C>T)
c.2648C>T (p.Pro883Leu)
c.1949C>T (p.Pro650Leu)
c.2696C>T (p.Pro899Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3770748G>CCA394551115CREBBPc.2702C>G (p.Pro901Arg)
c.2588C>G (p.Pro863Arg)
c.1307C>G (p.Pro436Arg)
c.2657C>G (p.Pro886Arg)
c.2464-1395C>G (n.2464-1395C>G)
c.2648C>G (p.Pro883Arg)
c.1949C>G (p.Pro650Arg)
c.2696C>G (p.Pro899Arg)
 dbSNP
16g.3770748G=CA2202950859CREBBPc.2702C= (p.Pro901=)
c.2588C= (p.Pro863=)
c.1307C= (p.Pro436=)
c.2657C= (p.Pro886=)
c.2464-1395C= (n.2464-1395C=)
c.2648C= (p.Pro883=)
c.1949C= (p.Pro650=)
c.2696C= (p.Pro899=)
16g.3770748G>TCA394551117CREBBPc.2702C>A (p.Pro901Gln)
c.2588C>A (p.Pro863Gln)
c.1307C>A (p.Pro436Gln)
c.2657C>A (p.Pro886Gln)
c.2464-1395C>A (n.2464-1395C>A)
c.2648C>A (p.Pro883Gln)
c.1949C>A (p.Pro650Gln)
c.2696C>A (p.Pro899Gln)
 dbSNP
16g.3770748_3770749insTCA645593151CREBBPc.2701_2702insA (p.Pro901HisfsTer?)
c.2587_2588insA (p.Pro863HisfsTer?)
c.1306_1307insA (p.Pro436HisfsTer?)
c.2656_2657insA (p.Pro886HisfsTer?)
c.2464-1396_2464-1395insA (n.2464-1396_2464-1395insA)
c.2647_2648insA (p.Pro883HisfsTer?)
c.1948_1949insA (p.Pro650HisfsTer?)
c.2695_2696insA (p.Pro899HisfsTer?)
 COSMIC
16g.3770749G>ACA7870046CREBBPc.2701C>T (p.Pro901Ser)
c.2587C>T (p.Pro863Ser)
c.1306C>T (p.Pro436Ser)
c.2656C>T (p.Pro886Ser)
c.2464-1396C>T (n.2464-1396C>T)
c.2647C>T (p.Pro883Ser)
c.1948C>T (p.Pro650Ser)
c.2695C>T (p.Pro899Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770749G>CCA394551120CREBBPc.2701C>G (p.Pro901Ala)
c.2587C>G (p.Pro863Ala)
c.1306C>G (p.Pro436Ala)
c.2656C>G (p.Pro886Ala)
c.2464-1396C>G (n.2464-1396C>G)
c.2647C>G (p.Pro883Ala)
c.1948C>G (p.Pro650Ala)
c.2695C>G (p.Pro899Ala)
 dbSNP
16g.3770749G=CA2202950860CREBBPc.2701C= (p.Pro901=)
c.2587C= (p.Pro863=)
c.1306C= (p.Pro436=)
c.2656C= (p.Pro886=)
c.2464-1396C= (n.2464-1396C=)
c.2647C= (p.Pro883=)
c.1948C= (p.Pro650=)
c.2695C= (p.Pro899=)
16g.3770749G>TCA394551122CREBBPc.2701C>A (p.Pro901Thr)
c.2587C>A (p.Pro863Thr)
c.1306C>A (p.Pro436Thr)
c.2656C>A (p.Pro886Thr)
c.2464-1396C>A (n.2464-1396C>A)
c.2647C>A (p.Pro883Thr)
c.1948C>A (p.Pro650Thr)
c.2695C>A (p.Pro899Thr)
 dbSNP
16g.3770750G>ACA7870047CREBBPc.2700C>T (p.Thr900=)
c.2586C>T (p.Thr862=)
c.1305C>T (p.Thr435=)
c.2655C>T (p.Thr885=)
c.2464-1397C>T (n.2464-1397C>T)
c.2646C>T (p.Thr882=)
c.1947C>T (p.Thr649=)
c.2694C>T (p.Thr898=)
 dbSNP ExAC gnomAD v2
16g.3770750G>CCA493394957CREBBPc.2700C>G (p.Thr900=)
c.2586C>G (p.Thr862=)
c.1305C>G (p.Thr435=)
c.2655C>G (p.Thr885=)
c.2464-1397C>G (n.2464-1397C>G)
c.2646C>G (p.Thr882=)
c.1947C>G (p.Thr649=)
c.2694C>G (p.Thr898=)
 dbSNP gnomAD v4
16g.3770750G=CA2202950861CREBBPc.2700C= (p.Thr900=)
c.2586C= (p.Thr862=)
c.1305C= (p.Thr435=)
c.2655C= (p.Thr885=)
c.2464-1397C= (n.2464-1397C=)
c.2646C= (p.Thr882=)
c.1947C= (p.Thr649=)
c.2694C= (p.Thr898=)
16g.3770750G>TCA493394958CREBBPc.2700C>A (p.Thr900=)
c.2586C>A (p.Thr862=)
c.1305C>A (p.Thr435=)
c.2655C>A (p.Thr885=)
c.2464-1397C>A (n.2464-1397C>A)
c.2646C>A (p.Thr882=)
c.1947C>A (p.Thr649=)
c.2694C>A (p.Thr898=)
 dbSNP
16g.3770751G>ACA394551128CREBBPc.2699C>T (p.Thr900Ile)
c.2585C>T (p.Thr862Ile)
c.1304C>T (p.Thr435Ile)
c.2654C>T (p.Thr885Ile)
c.2464-1398C>T (n.2464-1398C>T)
c.2645C>T (p.Thr882Ile)
c.1946C>T (p.Thr649Ile)
c.2693C>T (p.Thr898Ile)
 dbSNP gnomAD v4
16g.3770751G>CCA394551127CREBBPc.2699C>G (p.Thr900Ser)
c.2585C>G (p.Thr862Ser)
c.1304C>G (p.Thr435Ser)
c.2654C>G (p.Thr885Ser)
c.2464-1398C>G (n.2464-1398C>G)
c.2645C>G (p.Thr882Ser)
c.1946C>G (p.Thr649Ser)
c.2693C>G (p.Thr898Ser)
 dbSNP
16g.3770751G>TCA394551125CREBBPc.2699C>A (p.Thr900Asn)
c.2585C>A (p.Thr862Asn)
c.1304C>A (p.Thr435Asn)
c.2654C>A (p.Thr885Asn)
c.2464-1398C>A (n.2464-1398C>A)
c.2645C>A (p.Thr882Asn)
c.1946C>A (p.Thr649Asn)
c.2693C>A (p.Thr898Asn)
 dbSNP
16g.3770752T>ACA394551131CREBBPc.2698A>T (p.Thr900Ser)
c.2584A>T (p.Thr862Ser)
c.1303A>T (p.Thr435Ser)
c.2653A>T (p.Thr885Ser)
c.2464-1399A>T (n.2464-1399A>T)
c.2644A>T (p.Thr882Ser)
c.1945A>T (p.Thr649Ser)
c.2692A>T (p.Thr898Ser)
 dbSNP
16g.3770752T>CCA394551133CREBBPc.2698A>G (p.Thr900Ala)
c.2584A>G (p.Thr862Ala)
c.1303A>G (p.Thr435Ala)
c.2653A>G (p.Thr885Ala)
c.2464-1399A>G (n.2464-1399A>G)
c.2644A>G (p.Thr882Ala)
c.1945A>G (p.Thr649Ala)
c.2692A>G (p.Thr898Ala)
 dbSNP
16g.3770752T>GCA394551134CREBBPc.2698A>C (p.Thr900Pro)
c.2584A>C (p.Thr862Pro)
c.1303A>C (p.Thr435Pro)
c.2653A>C (p.Thr885Pro)
c.2464-1399A>C (n.2464-1399A>C)
c.2644A>C (p.Thr882Pro)
c.1945A>C (p.Thr649Pro)
c.2692A>C (p.Thr898Pro)
16g.3770752T=CA2202950862CREBBPc.2698A= (p.Thr900=)
c.2584A= (p.Thr862=)
c.1303A= (p.Thr435=)
c.2653A= (p.Thr885=)
c.2464-1399A= (n.2464-1399A=)
c.2644A= (p.Thr882=)
c.1945A= (p.Thr649=)
c.2692A= (p.Thr898=)
16g.3770753G>ACA7870048CREBBPc.2697C>T (p.Pro899=)
c.2583C>T (p.Pro861=)
c.1302C>T (p.Pro434=)
c.2652C>T (p.Pro884=)
c.2464-1400C>T (n.2464-1400C>T)
c.2643C>T (p.Pro881=)
c.1944C>T (p.Pro648=)
c.2691C>T (p.Pro897=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770753G>CCA493394963CREBBPc.2697C>G (p.Pro899=)
c.2583C>G (p.Pro861=)
c.1302C>G (p.Pro434=)
c.2652C>G (p.Pro884=)
c.2464-1400C>G (n.2464-1400C>G)
c.2643C>G (p.Pro881=)
c.1944C>G (p.Pro648=)
c.2691C>G (p.Pro897=)
 dbSNP
16g.3770753G=CA2202950863CREBBPc.2697C= (p.Pro899=)
c.2583C= (p.Pro861=)
c.1302C= (p.Pro434=)
c.2652C= (p.Pro884=)
c.2464-1400C= (n.2464-1400C=)
c.2643C= (p.Pro881=)
c.1944C= (p.Pro648=)
c.2691C= (p.Pro897=)
16g.3770753G>TCA493394959CREBBPc.2697C>A (p.Pro899=)
c.2583C>A (p.Pro861=)
c.1302C>A (p.Pro434=)
c.2652C>A (p.Pro884=)
c.2464-1400C>A (n.2464-1400C>A)
c.2643C>A (p.Pro881=)
c.1944C>A (p.Pro648=)
c.2691C>A (p.Pro897=)
16g.3770754G>ACA394551138CREBBPc.2696C>T (p.Pro899Leu)
c.2582C>T (p.Pro861Leu)
c.1301C>T (p.Pro434Leu)
c.2651C>T (p.Pro884Leu)
c.2464-1401C>T (n.2464-1401C>T)
c.2642C>T (p.Pro881Leu)
c.1943C>T (p.Pro648Leu)
c.2690C>T (p.Pro897Leu)
 dbSNP
16g.3770754G>CCA394551140CREBBPc.2696C>G (p.Pro899Arg)
c.2582C>G (p.Pro861Arg)
c.1301C>G (p.Pro434Arg)
c.2651C>G (p.Pro884Arg)
c.2464-1401C>G (n.2464-1401C>G)
c.2642C>G (p.Pro881Arg)
c.1943C>G (p.Pro648Arg)
c.2690C>G (p.Pro897Arg)
 dbSNP
16g.3770754G>TCA394551141CREBBPc.2696C>A (p.Pro899His)
c.2582C>A (p.Pro861His)
c.1301C>A (p.Pro434His)
c.2651C>A (p.Pro884His)
c.2464-1401C>A (n.2464-1401C>A)
c.2642C>A (p.Pro881His)
c.1943C>A (p.Pro648His)
c.2690C>A (p.Pro897His)
 dbSNP
16g.3770755G>ACA394551143CREBBPc.2695C>T (p.Pro899Ser)
c.2581C>T (p.Pro861Ser)
c.1300C>T (p.Pro434Ser)
c.2650C>T (p.Pro884Ser)
c.2464-1402C>T (n.2464-1402C>T)
c.2641C>T (p.Pro881Ser)
c.1942C>T (p.Pro648Ser)
c.2689C>T (p.Pro897Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3770755G>CCA394551145CREBBPc.2695C>G (p.Pro899Ala)
c.2581C>G (p.Pro861Ala)
c.1300C>G (p.Pro434Ala)
c.2650C>G (p.Pro884Ala)
c.2464-1402C>G (n.2464-1402C>G)
c.2641C>G (p.Pro881Ala)
c.1942C>G (p.Pro648Ala)
c.2689C>G (p.Pro897Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3770755G=CA2202950864CREBBPc.2695C= (p.Pro899=)
c.2581C= (p.Pro861=)
c.1300C= (p.Pro434=)
c.2650C= (p.Pro884=)
c.2464-1402C= (n.2464-1402C=)
c.2641C= (p.Pro881=)
c.1942C= (p.Pro648=)
c.2689C= (p.Pro897=)
16g.3770755G>TCA394551146CREBBPc.2695C>A (p.Pro899Thr)
c.2581C>A (p.Pro861Thr)
c.1300C>A (p.Pro434Thr)
c.2650C>A (p.Pro884Thr)
c.2464-1402C>A (n.2464-1402C>A)
c.2641C>A (p.Pro881Thr)
c.1942C>A (p.Pro648Thr)
c.2689C>A (p.Pro897Thr)
 dbSNP
16g.3770756A>CCA493394967CREBBPc.2694T>G (p.Thr898=)
c.2580T>G (p.Thr860=)
c.1299T>G (p.Thr433=)
c.2649T>G (p.Thr883=)
c.2464-1403T>G (n.2464-1403T>G)
c.2640T>G (p.Thr880=)
c.1941T>G (p.Thr647=)
c.2688T>G (p.Thr896=)
16g.3770756A>GCA493394968CREBBPc.2694T>C (p.Thr898=)
c.2580T>C (p.Thr860=)
c.1299T>C (p.Thr433=)
c.2649T>C (p.Thr883=)
c.2464-1403T>C (n.2464-1403T>C)
c.2640T>C (p.Thr880=)
c.1941T>C (p.Thr647=)
c.2688T>C (p.Thr896=)
 gnomAD v4
16g.3770756A>TCA493394969CREBBPc.2694T>A (p.Thr898=)
c.2580T>A (p.Thr860=)
c.1299T>A (p.Thr433=)
c.2649T>A (p.Thr883=)
c.2464-1403T>A (n.2464-1403T>A)
c.2640T>A (p.Thr880=)
c.1941T>A (p.Thr647=)
c.2688T>A (p.Thr896=)
 dbSNP
16g.3770757G>ACA394551148CREBBPc.2693C>T (p.Thr898Ile)
c.2579C>T (p.Thr860Ile)
c.1298C>T (p.Thr433Ile)
c.2648C>T (p.Thr883Ile)
c.2464-1404C>T (n.2464-1404C>T)
c.2639C>T (p.Thr880Ile)
c.1940C>T (p.Thr647Ile)
c.2687C>T (p.Thr896Ile)
 dbSNP
16g.3770757G>CCA394551150CREBBPc.2693C>G (p.Thr898Ser)
c.2579C>G (p.Thr860Ser)
c.1298C>G (p.Thr433Ser)
c.2648C>G (p.Thr883Ser)
c.2464-1404C>G (n.2464-1404C>G)
c.2639C>G (p.Thr880Ser)
c.1940C>G (p.Thr647Ser)
c.2687C>G (p.Thr896Ser)
 dbSNP
16g.3770757G>TCA394551151CREBBPc.2693C>A (p.Thr898Asn)
c.2579C>A (p.Thr860Asn)
c.1298C>A (p.Thr433Asn)
c.2648C>A (p.Thr883Asn)
c.2464-1404C>A (n.2464-1404C>A)
c.2639C>A (p.Thr880Asn)
c.1940C>A (p.Thr647Asn)
c.2687C>A (p.Thr896Asn)
16g.3770758T>ACA394551155CREBBPc.2692A>T (p.Thr898Ser)
c.2578A>T (p.Thr860Ser)
c.1297A>T (p.Thr433Ser)
c.2647A>T (p.Thr883Ser)
c.2464-1405A>T (n.2464-1405A>T)
c.2638A>T (p.Thr880Ser)
c.1939A>T (p.Thr647Ser)
c.2686A>T (p.Thr896Ser)
 dbSNP
16g.3770758T>CCA394551157CREBBPc.2692A>G (p.Thr898Ala)
c.2578A>G (p.Thr860Ala)
c.1297A>G (p.Thr433Ala)
c.2647A>G (p.Thr883Ala)
c.2464-1405A>G (n.2464-1405A>G)
c.2638A>G (p.Thr880Ala)
c.1939A>G (p.Thr647Ala)
c.2686A>G (p.Thr896Ala)
 dbSNP
16g.3770758T>GCA394551154CREBBPc.2692A>C (p.Thr898Pro)
c.2578A>C (p.Thr860Pro)
c.1297A>C (p.Thr433Pro)
c.2647A>C (p.Thr883Pro)
c.2464-1405A>C (n.2464-1405A>C)
c.2638A>C (p.Thr880Pro)
c.1939A>C (p.Thr647Pro)
c.2686A>C (p.Thr896Pro)
 dbSNP
16g.3770759C>ACA394551162CREBBPc.2691G>T (p.Gln897His)
c.2577G>T (p.Gln859His)
c.1296G>T (p.Gln432His)
c.2646G>T (p.Gln882His)
c.2464-1406G>T (n.2464-1406G>T)
c.2637G>T (p.Gln879His)
c.1938G>T (p.Gln646His)
c.2685G>T (p.Gln895His)
 dbSNP
16g.3770759C>GCA394551160CREBBPc.2691G>C (p.Gln897His)
c.2577G>C (p.Gln859His)
c.1296G>C (p.Gln432His)
c.2646G>C (p.Gln882His)
c.2464-1406G>C (n.2464-1406G>C)
c.2637G>C (p.Gln879His)
c.1938G>C (p.Gln646His)
c.2685G>C (p.Gln895His)
 dbSNP
16g.3770759C>TCA493394973CREBBPc.2691G>A (p.Gln897=)
c.2577G>A (p.Gln859=)
c.1296G>A (p.Gln432=)
c.2646G>A (p.Gln882=)
c.2464-1406G>A (n.2464-1406G>A)
c.2637G>A (p.Gln879=)
c.1938G>A (p.Gln646=)
c.2685G>A (p.Gln895=)
 dbSNP
16g.3770759_3770771delinsCTGCCCGGAAGACCA2202950865CREBBPc.2679_2691delinsGTCTTCCGGGCAG (p.Ser893=)
c.2565_2577delinsGTCTTCCGGGCAG (p.Ser855=)
c.1284_1296delinsGTCTTCCGGGCAG (p.Ser428=)
c.2634_2646delinsGTCTTCCGGGCAG (p.Ser878=)
c.2464-1418_2464-1406delinsGTCTTCCGGGCAG (n.2464-1418_2464-1406delinsGTCTTCCGGGCAG)
c.2625_2637delinsGTCTTCCGGGCAG (p.Ser875=)
c.1926_1938delinsGTCTTCCGGGCAG (p.Ser642=)
c.2673_2685delinsGTCTTCCGGGCAG (p.Ser891=)
16g.3770760T>ACA394551164CREBBPc.2690A>T (p.Gln897Leu)
c.2576A>T (p.Gln859Leu)
c.1295A>T (p.Gln432Leu)
c.2645A>T (p.Gln882Leu)
c.2464-1407A>T (n.2464-1407A>T)
c.2636A>T (p.Gln879Leu)
c.1937A>T (p.Gln646Leu)
c.2684A>T (p.Gln895Leu)
 dbSNP
16g.3770760T>CCA394551166CREBBPc.2690A>G (p.Gln897Arg)
c.2576A>G (p.Gln859Arg)
c.1295A>G (p.Gln432Arg)
c.2645A>G (p.Gln882Arg)
c.2464-1407A>G (n.2464-1407A>G)
c.2636A>G (p.Gln879Arg)
c.1937A>G (p.Gln646Arg)
c.2684A>G (p.Gln895Arg)
 dbSNP
16g.3770760T>GCA394551168CREBBPc.2690A>C (p.Gln897Pro)
c.2576A>C (p.Gln859Pro)
c.1295A>C (p.Gln432Pro)
c.2645A>C (p.Gln882Pro)
c.2464-1407A>C (n.2464-1407A>C)
c.2636A>C (p.Gln879Pro)
c.1937A>C (p.Gln646Pro)
c.2684A>C (p.Gln895Pro)
 dbSNP
16g.3770760_3770771delinsGGCA277190CREBBPc.2679_2690delinsCC (p.Ser894ArgfsTer30)
c.2565_2576delinsCC (p.Ser856ArgfsTer30)
c.1284_1295delinsCC (p.Ser429ArgfsTer30)
c.2634_2645delinsCC (p.Ser879ArgfsTer30)
c.2464-1418_2464-1407delinsCC (n.2464-1418_2464-1407delinsCC)
c.2625_2636delinsCC (p.Ser876ArgfsTer30)
c.1926_1937delinsCC (p.Ser643ArgfsTer30)
c.2673_2684delinsCC (p.Ser892ArgfsTer30)
 ClinVar dbSNP
16g.3770761G>ACA394551170CREBBPc.2689C>T (p.Gln897Ter)
c.2575C>T (p.Gln859Ter)
c.1294C>T (p.Gln432Ter)
c.2644C>T (p.Gln882Ter)
c.2464-1408C>T (n.2464-1408C>T)
c.2635C>T (p.Gln879Ter)
c.1936C>T (p.Gln646Ter)
c.2683C>T (p.Gln895Ter)
 dbSNP
16g.3770761G>CCA394551172CREBBPc.2689C>G (p.Gln897Glu)
c.2575C>G (p.Gln859Glu)
c.1294C>G (p.Gln432Glu)
c.2644C>G (p.Gln882Glu)
c.2464-1408C>G (n.2464-1408C>G)
c.2635C>G (p.Gln879Glu)
c.1936C>G (p.Gln646Glu)
c.2683C>G (p.Gln895Glu)
 dbSNP
16g.3770761G>TCA394551174CREBBPc.2689C>A (p.Gln897Lys)
c.2575C>A (p.Gln859Lys)
c.1294C>A (p.Gln432Lys)
c.2644C>A (p.Gln882Lys)
c.2464-1408C>A (n.2464-1408C>A)
c.2635C>A (p.Gln879Lys)
c.1936C>A (p.Gln646Lys)
c.2683C>A (p.Gln895Lys)
 dbSNP
16g.3770762C>ACA493394977CREBBPc.2688G>T (p.Gly896=)
c.2574G>T (p.Gly858=)
c.1293G>T (p.Gly431=)
c.2643G>T (p.Gly881=)
c.2464-1409G>T (n.2464-1409G>T)
c.2634G>T (p.Gly878=)
c.1935G>T (p.Gly645=)
c.2682G>T (p.Gly894=)
 dbSNP
16g.3770762C>GCA493394979CREBBPc.2688G>C (p.Gly896=)
c.2574G>C (p.Gly858=)
c.1293G>C (p.Gly431=)
c.2643G>C (p.Gly881=)
c.2464-1409G>C (n.2464-1409G>C)
c.2634G>C (p.Gly878=)
c.1935G>C (p.Gly645=)
c.2682G>C (p.Gly894=)
 dbSNP
16g.3770762C>TCA493394981CREBBPc.2688G>A (p.Gly896=)
c.2574G>A (p.Gly858=)
c.1293G>A (p.Gly431=)
c.2643G>A (p.Gly881=)
c.2464-1409G>A (n.2464-1409G>A)
c.2634G>A (p.Gly878=)
c.1935G>A (p.Gly645=)
c.2682G>A (p.Gly894=)
 dbSNP COSMIC
16g.3770763C>ACA394551176CREBBPc.2687G>T (p.Gly896Val)
c.2573G>T (p.Gly858Val)
c.1292G>T (p.Gly431Val)
c.2642G>T (p.Gly881Val)
c.2464-1410G>T (n.2464-1410G>T)
c.2633G>T (p.Gly878Val)
c.1934G>T (p.Gly645Val)
c.2681G>T (p.Gly894Val)
 dbSNP
16g.3770763C>GCA394551177CREBBPc.2687G>C (p.Gly896Ala)
c.2573G>C (p.Gly858Ala)
c.1292G>C (p.Gly431Ala)
c.2642G>C (p.Gly881Ala)
c.2464-1410G>C (n.2464-1410G>C)
c.2633G>C (p.Gly878Ala)
c.1934G>C (p.Gly645Ala)
c.2681G>C (p.Gly894Ala)
 dbSNP
16g.3770763C>TCA394551178CREBBPc.2687G>A (p.Gly896Glu)
c.2573G>A (p.Gly858Glu)
c.1292G>A (p.Gly431Glu)
c.2642G>A (p.Gly881Glu)
c.2464-1410G>A (n.2464-1410G>A)
c.2633G>A (p.Gly878Glu)
c.1934G>A (p.Gly645Glu)
c.2681G>A (p.Gly894Glu)
 dbSNP
16g.3770764C>ACA394551180CREBBPc.2686G>T (p.Gly896Trp)
c.2572G>T (p.Gly858Trp)
c.1291G>T (p.Gly431Trp)
c.2641G>T (p.Gly881Trp)
c.2464-1411G>T (n.2464-1411G>T)
c.2632G>T (p.Gly878Trp)
c.1933G>T (p.Gly645Trp)
c.2680G>T (p.Gly894Trp)
 dbSNP
16g.3770764C=CA2202950867CREBBPc.2686G= (p.Gly896=)
c.2572G= (p.Gly858=)
c.1291G= (p.Gly431=)
c.2641G= (p.Gly881=)
c.2464-1411G= (n.2464-1411G=)
c.2632G= (p.Gly878=)
c.1933G= (p.Gly645=)
c.2680G= (p.Gly894=)
16g.3770764C>GCA7870049CREBBPc.2686G>C (p.Gly896Arg)
c.2572G>C (p.Gly858Arg)
c.1291G>C (p.Gly431Arg)
c.2641G>C (p.Gly881Arg)
c.2464-1411G>C (n.2464-1411G>C)
c.2632G>C (p.Gly878Arg)
c.1933G>C (p.Gly645Arg)
c.2680G>C (p.Gly894Arg)
 dbSNP ExAC gnomAD v4
16g.3770764C>TCA394551183CREBBPc.2686G>A (p.Gly896Arg)
c.2572G>A (p.Gly858Arg)
c.1291G>A (p.Gly431Arg)
c.2641G>A (p.Gly881Arg)
c.2464-1411G>A (n.2464-1411G>A)
c.2632G>A (p.Gly878Arg)
c.1933G>A (p.Gly645Arg)
c.2680G>A (p.Gly894Arg)
 dbSNP COSMIC
16g.3770764_3770765delinsCGCA2202950866CREBBPc.2685_2686delinsCG (p.Ser895=)
c.2571_2572delinsCG (p.Ser857=)
c.1290_1291delinsCG (p.Ser430=)
c.2640_2641delinsCG (p.Ser880=)
c.2464-1412_2464-1411delinsCG (n.2464-1412_2464-1411delinsCG)
c.2631_2632delinsCG (p.Ser877=)
c.1932_1933delinsCG (p.Ser644=)
c.2679_2680delinsCG (p.Ser893=)
16g.3770765G>ACA7870050CREBBPc.2685C>T (p.Ser895=)
c.2571C>T (p.Ser857=)
c.1290C>T (p.Ser430=)
c.2640C>T (p.Ser880=)
c.2464-1412C>T (n.2464-1412C>T)
c.2631C>T (p.Ser877=)
c.1932C>T (p.Ser644=)
c.2679C>T (p.Ser893=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3770765G>CCA493394985CREBBPc.2685C>G (p.Ser895=)
c.2571C>G (p.Ser857=)
c.1290C>G (p.Ser430=)
c.2640C>G (p.Ser880=)
c.2464-1412C>G (n.2464-1412C>G)
c.2631C>G (p.Ser877=)
c.1932C>G (p.Ser644=)
c.2679C>G (p.Ser893=)
 dbSNP
16g.3770765G=CA2202950868CREBBPc.2685C= (p.Ser895=)
c.2571C= (p.Ser857=)
c.1290C= (p.Ser430=)
c.2640C= (p.Ser880=)
c.2464-1412C= (n.2464-1412C=)
c.2631C= (p.Ser877=)
c.1932C= (p.Ser644=)
c.2679C= (p.Ser893=)
16g.3770765G>TCA493394987CREBBPc.2685C>A (p.Ser895=)
c.2571C>A (p.Ser857=)
c.1290C>A (p.Ser430=)
c.2640C>A (p.Ser880=)
c.2464-1412C>A (n.2464-1412C>A)
c.2631C>A (p.Ser877=)
c.1932C>A (p.Ser644=)
c.2679C>A (p.Ser893=)
 dbSNP
16g.3770766delCA275010CREBBPc.2685del (p.Gln897ArgfsTer?)
c.2571del (p.Gln859ArgfsTer?)
c.1290del (p.Gln432ArgfsTer?)
c.2640del (p.Gln882ArgfsTer?)
c.2464-1412del (n.2464-1412del)
c.2631del (p.Gln879ArgfsTer?)
c.1932del (p.Gln646ArgfsTer?)
c.2679del (p.Gln895ArgfsTer?)
 ClinVar dbSNP COSMIC
16g.3770766G>ACA394551187CREBBPc.2684C>T (p.Ser895Phe)
c.2570C>T (p.Ser857Phe)
c.1289C>T (p.Ser430Phe)
c.2639C>T (p.Ser880Phe)
c.2464-1413C>T (n.2464-1413C>T)
c.2630C>T (p.Ser877Phe)
c.1931C>T (p.Ser644Phe)
c.2678C>T (p.Ser893Phe)
 dbSNP
16g.3770766G>CCA394551188CREBBPc.2684C>G (p.Ser895Cys)
c.2570C>G (p.Ser857Cys)
c.1289C>G (p.Ser430Cys)
c.2639C>G (p.Ser880Cys)
c.2464-1413C>G (n.2464-1413C>G)
c.2630C>G (p.Ser877Cys)
c.1931C>G (p.Ser644Cys)
c.2678C>G (p.Ser893Cys)
 dbSNP
16g.3770766G>TCA394551190CREBBPc.2684C>A (p.Ser895Tyr)
c.2570C>A (p.Ser857Tyr)
c.1289C>A (p.Ser430Tyr)
c.2639C>A (p.Ser880Tyr)
c.2464-1413C>A (n.2464-1413C>A)
c.2630C>A (p.Ser877Tyr)
c.1931C>A (p.Ser644Tyr)
c.2678C>A (p.Ser893Tyr)
 dbSNP
16g.3770767A>CCA394551193CREBBPc.2683T>G (p.Ser895Ala)
c.2569T>G (p.Ser857Ala)
c.1288T>G (p.Ser430Ala)
c.2638T>G (p.Ser880Ala)
c.2464-1414T>G (n.2464-1414T>G)
c.2629T>G (p.Ser877Ala)
c.1930T>G (p.Ser644Ala)
c.2677T>G (p.Ser893Ala)
16g.3770767A>GCA394551194CREBBPc.2683T>C (p.Ser895Pro)
c.2569T>C (p.Ser857Pro)
c.1288T>C (p.Ser430Pro)
c.2638T>C (p.Ser880Pro)
c.2464-1414T>C (n.2464-1414T>C)
c.2629T>C (p.Ser877Pro)
c.1930T>C (p.Ser644Pro)
c.2677T>C (p.Ser893Pro)
 dbSNP
16g.3770767A>TCA394551195CREBBPc.2683T>A (p.Ser895Thr)
c.2569T>A (p.Ser857Thr)
c.1288T>A (p.Ser430Thr)
c.2638T>A (p.Ser880Thr)
c.2464-1414T>A (n.2464-1414T>A)
c.2629T>A (p.Ser877Thr)
c.1930T>A (p.Ser644Thr)
c.2677T>A (p.Ser893Thr)
 dbSNP
16g.3770768A=CA2202950870CREBBPc.2682T= (p.Ser894=)
c.2568T= (p.Ser856=)
c.1287T= (p.Ser429=)
c.2637T= (p.Ser879=)
c.2464-1415T= (n.2464-1415T=)
c.2628T= (p.Ser876=)
c.1929T= (p.Ser643=)
c.2676T= (p.Ser892=)
16g.3770768A>CCA493394993CREBBPc.2682T>G (p.Ser894=)
c.2568T>G (p.Ser856=)
c.1287T>G (p.Ser429=)
c.2637T>G (p.Ser879=)
c.2464-1415T>G (n.2464-1415T>G)
c.2628T>G (p.Ser876=)
c.1929T>G (p.Ser643=)
c.2676T>G (p.Ser892=)
16g.3770768A>GCA493394994CREBBPc.2682T>C (p.Ser894=)
c.2568T>C (p.Ser856=)
c.1287T>C (p.Ser429=)
c.2637T>C (p.Ser879=)
c.2464-1415T>C (n.2464-1415T>C)
c.2628T>C (p.Ser876=)
c.1929T>C (p.Ser643=)
c.2676T>C (p.Ser892=)
 dbSNP gnomAD v3 gnomAD v4
16g.3770768A>TCA493394995CREBBPc.2682T>A (p.Ser894=)
c.2568T>A (p.Ser856=)
c.1287T>A (p.Ser429=)
c.2637T>A (p.Ser879=)
c.2464-1415T>A (n.2464-1415T>A)
c.2628T>A (p.Ser876=)
c.1929T>A (p.Ser643=)
c.2676T>A (p.Ser892=)
 dbSNP
16g.3770768_3770771delinsAGACCA2202950869CREBBPc.2679_2682delinsGTCT (p.Ser893=)
c.2565_2568delinsGTCT (p.Ser855=)
c.1284_1287delinsGTCT (p.Ser428=)
c.2634_2637delinsGTCT (p.Ser878=)
c.2464-1418_2464-1415delinsGTCT (n.2464-1418_2464-1415delinsGTCT)
c.2625_2628delinsGTCT (p.Ser875=)
c.1926_1929delinsGTCT (p.Ser642=)
c.2673_2676delinsGTCT (p.Ser891=)
16g.3770769G>ACA394551198CREBBPc.2681C>T (p.Ser894Phe)
c.2567C>T (p.Ser856Phe)
c.1286C>T (p.Ser429Phe)
c.2636C>T (p.Ser879Phe)
c.2464-1416C>T (n.2464-1416C>T)
c.2627C>T (p.Ser876Phe)
c.1928C>T (p.Ser643Phe)
c.2675C>T (p.Ser892Phe)
 dbSNP
16g.3770769G>CCA394551200CREBBPc.2681C>G (p.Ser894Cys)
c.2567C>G (p.Ser856Cys)
c.1286C>G (p.Ser429Cys)
c.2636C>G (p.Ser879Cys)
c.2464-1416C>G (n.2464-1416C>G)
c.2627C>G (p.Ser876Cys)
c.1928C>G (p.Ser643Cys)
c.2675C>G (p.Ser892Cys)
 dbSNP
16g.3770769G>TCA394551201CREBBPc.2681C>A (p.Ser894Tyr)
c.2567C>A (p.Ser856Tyr)
c.1286C>A (p.Ser429Tyr)
c.2636C>A (p.Ser879Tyr)
c.2464-1416C>A (n.2464-1416C>A)
c.2627C>A (p.Ser876Tyr)
c.1928C>A (p.Ser643Tyr)
c.2675C>A (p.Ser892Tyr)
 dbSNP
16g.3770772_3770774delCA7870051CREBBPc.2679_2681del (p.Ser894del)
c.2565_2567del (p.Ser856del)
c.1284_1286del (p.Ser429del)
c.2634_2636del (p.Ser879del)
c.2464-1418_2464-1416del (n.2464-1418_2464-1416del)
c.2625_2627del (p.Ser876del)
c.1926_1928del (p.Ser643del)
c.2673_2675del (p.Ser892del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3770770A>CCA394551203CREBBPc.2680T>G (p.Ser894Ala)
c.2566T>G (p.Ser856Ala)
c.1285T>G (p.Ser429Ala)
c.2635T>G (p.Ser879Ala)
c.2464-1417T>G (n.2464-1417T>G)
c.2626T>G (p.Ser876Ala)
c.1927T>G (p.Ser643Ala)
c.2674T>G (p.Ser892Ala)
 dbSNP
16g.3770770A>GCA394551205CREBBPc.2680T>C (p.Ser894Pro)
c.2566T>C (p.Ser856Pro)
c.1285T>C (p.Ser429Pro)
c.2635T>C (p.Ser879Pro)
c.2464-1417T>C (n.2464-1417T>C)
c.2626T>C (p.Ser876Pro)
c.1927T>C (p.Ser643Pro)
c.2674T>C (p.Ser892Pro)
 dbSNP
16g.3770770A>TCA394551207CREBBPc.2680T>A (p.Ser894Thr)
c.2566T>A (p.Ser856Thr)
c.1285T>A (p.Ser429Thr)
c.2635T>A (p.Ser879Thr)
c.2464-1417T>A (n.2464-1417T>A)
c.2626T>A (p.Ser876Thr)
c.1927T>A (p.Ser643Thr)
c.2674T>A (p.Ser892Thr)
 dbSNP
16g.3770771C>ACA493395000CREBBPc.2679G>T (p.Ser893=)
c.2565G>T (p.Ser855=)
c.1284G>T (p.Ser428=)
c.2634G>T (p.Ser878=)
c.2464-1418G>T (n.2464-1418G>T)
c.2625G>T (p.Ser875=)
c.1926G>T (p.Ser642=)
c.2673G>T (p.Ser891=)
 dbSNP
16g.3770771C=CA2202950871CREBBPc.2679G= (p.Ser893=)
c.2565G= (p.Ser855=)
c.1284G= (p.Ser428=)
c.2634G= (p.Ser878=)
c.2464-1418G= (n.2464-1418G=)
c.2625G= (p.Ser875=)
c.1926G= (p.Ser642=)
c.2673G= (p.Ser891=)
16g.3770771C>GCA493395001CREBBPc.2679G>C (p.Ser893=)
c.2565G>C (p.Ser855=)
c.1284G>C (p.Ser428=)
c.2634G>C (p.Ser878=)
c.2464-1418G>C (n.2464-1418G>C)
c.2625G>C (p.Ser875=)
c.1926G>C (p.Ser642=)
c.2673G>C (p.Ser891=)
 dbSNP
16g.3770771C>TCA271377CREBBPc.2679G>A (p.Ser893=)
c.2565G>A (p.Ser855=)
c.1284G>A (p.Ser428=)
c.2634G>A (p.Ser878=)
c.2464-1418G>A (n.2464-1418G>A)
c.2625G>A (p.Ser875=)
c.1926G>A (p.Ser642=)
c.2673G>A (p.Ser891=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched