Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3740442T>ACA394565291CREBBPc.4090A>T (p.Ser1364Cys)
c.3976A>T (p.Ser1326Cys)
c.2725A>T (p.Ser909Cys)
c.396A>T
n.172A>T
n.3027A>T
c.4045A>T (p.Ser1349Cys)
c.3673A>T (p.Ser1225Cys)
c.4036A>T (p.Ser1346Cys)
c.3337A>T (p.Ser1113Cys)
c.4084A>T (p.Ser1362Cys)
16g.3740442T>CCA394565292CREBBPc.4090A>G (p.Ser1364Gly)
c.3976A>G (p.Ser1326Gly)
c.2725A>G (p.Ser909Gly)
c.396A>G
n.172A>G
n.3027A>G
c.4045A>G (p.Ser1349Gly)
c.3673A>G (p.Ser1225Gly)
c.4036A>G (p.Ser1346Gly)
c.3337A>G (p.Ser1113Gly)
c.4084A>G (p.Ser1362Gly)
 ClinVar gnomAD v4
16g.3740442T>GCA394565293CREBBPc.4090A>C (p.Ser1364Arg)
c.3976A>C (p.Ser1326Arg)
c.2725A>C (p.Ser909Arg)
c.396A>C
n.172A>C
n.3027A>C
c.4045A>C (p.Ser1349Arg)
c.3673A>C (p.Ser1225Arg)
c.4036A>C (p.Ser1346Arg)
c.3337A>C (p.Ser1113Arg)
c.4084A>C (p.Ser1362Arg)
 gnomAD v4
16g.3740442_3740452delCA2695222657CREBBPc.4080_4090del (p.Val1361LeufsTer23)
c.3966_3976del (p.Val1323LeufsTer23)
c.2715_2725del (p.Val906LeufsTer23)
c.386_396del
n.162_172del
n.3017_3027del
c.4035_4045del (p.Val1346LeufsTer23)
c.3663_3673del (p.Val1222LeufsTer23)
c.4080_4090del (p.Val1361LeufsTer27)
c.4026_4036del (p.Val1343LeufsTer23)
c.3327_3337del (p.Val1110LeufsTer23)
c.4074_4084del (p.Val1359LeufsTer23)
16g.3740443G>ACA493280337CREBBPc.4089C>T (p.Ala1363=)
c.3975C>T (p.Ala1325=)
c.2724C>T (p.Ala908=)
n.553C>T
c.395C>T
n.171C>T
n.3026C>T
c.4044C>T (p.Ala1348=)
c.3672C>T (p.Ala1224=)
c.4035C>T (p.Ala1345=)
c.3336C>T (p.Ala1112=)
c.4083C>T (p.Ala1361=)
 dbSNP
16g.3740443G>CCA493280335CREBBPc.4089C>G (p.Ala1363=)
c.3975C>G (p.Ala1325=)
c.2724C>G (p.Ala908=)
n.553C>G
c.395C>G
n.171C>G
n.3026C>G
c.4044C>G (p.Ala1348=)
c.3672C>G (p.Ala1224=)
c.4035C>G (p.Ala1345=)
c.3336C>G (p.Ala1112=)
c.4083C>G (p.Ala1361=)
 dbSNP
16g.3740443G=CA2202940826CREBBPc.4089C= (p.Ala1363=)
c.3975C= (p.Ala1325=)
c.2724C= (p.Ala908=)
n.553C=
c.395C=
n.171C=
n.3026C=
c.4044C= (p.Ala1348=)
c.3672C= (p.Ala1224=)
c.4035C= (p.Ala1345=)
c.3336C= (p.Ala1112=)
c.4083C= (p.Ala1361=)
16g.3740443G>TCA493280336CREBBPc.4089C>A (p.Ala1363=)
c.3975C>A (p.Ala1325=)
c.2724C>A (p.Ala908=)
n.553C>A
c.395C>A
n.171C>A
n.3026C>A
c.4044C>A (p.Ala1348=)
c.3672C>A (p.Ala1224=)
c.4035C>A (p.Ala1345=)
c.3336C>A (p.Ala1112=)
c.4083C>A (p.Ala1361=)
 dbSNP gnomAD v2 gnomAD v4
16g.3740444G>ACA394565296CREBBPc.4088C>T (p.Ala1363Val)
c.3974C>T (p.Ala1325Val)
c.2723C>T (p.Ala908Val)
n.552C>T
c.394C>T
n.170C>T
n.3025C>T
c.4043C>T (p.Ala1348Val)
c.3671C>T (p.Ala1224Val)
c.4034C>T (p.Ala1345Val)
c.3335C>T (p.Ala1112Val)
c.4082C>T (p.Ala1361Val)
16g.3740444G>CCA394565295CREBBPc.4088C>G (p.Ala1363Gly)
c.3974C>G (p.Ala1325Gly)
c.2723C>G (p.Ala908Gly)
n.552C>G
c.394C>G
n.170C>G
n.3025C>G
c.4043C>G (p.Ala1348Gly)
c.3671C>G (p.Ala1224Gly)
c.4034C>G (p.Ala1345Gly)
c.3335C>G (p.Ala1112Gly)
c.4082C>G (p.Ala1361Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.3740444G=CA2202940828CREBBPc.4088C= (p.Ala1363=)
c.3974C= (p.Ala1325=)
c.2723C= (p.Ala908=)
n.552C=
c.394C=
n.170C=
n.3025C=
c.4043C= (p.Ala1348=)
c.3671C= (p.Ala1224=)
c.4034C= (p.Ala1345=)
c.3335C= (p.Ala1112=)
c.4082C= (p.Ala1361=)
16g.3740444G>TCA394565294CREBBPc.4088C>A (p.Ala1363Asp)
c.3974C>A (p.Ala1325Asp)
c.2723C>A (p.Ala908Asp)
n.552C>A
c.394C>A
n.170C>A
n.3025C>A
c.4043C>A (p.Ala1348Asp)
c.3671C>A (p.Ala1224Asp)
c.4034C>A (p.Ala1345Asp)
c.3335C>A (p.Ala1112Asp)
c.4082C>A (p.Ala1361Asp)
16g.3740445C>ACA394565297CREBBPc.4087G>T (p.Ala1363Ser)
c.3973G>T (p.Ala1325Ser)
c.2722G>T (p.Ala908Ser)
n.551G>T
c.393G>T
n.169G>T
n.3024G>T
c.4042G>T (p.Ala1348Ser)
c.3670G>T (p.Ala1224Ser)
c.4033G>T (p.Ala1345Ser)
c.3334G>T (p.Ala1112Ser)
c.4081G>T (p.Ala1361Ser)
 gnomAD v4
16g.3740445C>GCA394565298CREBBPc.4087G>C (p.Ala1363Pro)
c.3973G>C (p.Ala1325Pro)
c.2722G>C (p.Ala908Pro)
n.551G>C
c.393G>C
n.169G>C
n.3024G>C
c.4042G>C (p.Ala1348Pro)
c.3670G>C (p.Ala1224Pro)
c.4033G>C (p.Ala1345Pro)
c.3334G>C (p.Ala1112Pro)
c.4081G>C (p.Ala1361Pro)
 dbSNP
16g.3740445C>TCA394565299CREBBPc.4087G>A (p.Ala1363Thr)
c.3973G>A (p.Ala1325Thr)
c.2722G>A (p.Ala908Thr)
n.551G>A
c.393G>A
n.169G>A
n.3024G>A
c.4042G>A (p.Ala1348Thr)
c.3670G>A (p.Ala1224Thr)
c.4033G>A (p.Ala1345Thr)
c.3334G>A (p.Ala1112Thr)
c.4081G>A (p.Ala1361Thr)
 dbSNP gnomAD v4
16g.3740446C>ACA493280341CREBBPc.4086G>T (p.Val1362=)
c.3972G>T (p.Val1324=)
c.2721G>T (p.Val907=)
n.550G>T
c.392G>T
n.168G>T
n.3023G>T
c.4041G>T (p.Val1347=)
c.3669G>T (p.Val1223=)
c.4032G>T (p.Val1344=)
c.3333G>T (p.Val1111=)
c.4080G>T (p.Val1360=)
 dbSNP
16g.3740446C>GCA493280342CREBBPc.4086G>C (p.Val1362=)
c.3972G>C (p.Val1324=)
c.2721G>C (p.Val907=)
n.550G>C
c.392G>C
n.168G>C
n.3023G>C
c.4041G>C (p.Val1347=)
c.3669G>C (p.Val1223=)
c.4032G>C (p.Val1344=)
c.3333G>C (p.Val1111=)
c.4080G>C (p.Val1360=)
 dbSNP
16g.3740446C>TCA493280344CREBBPc.4086G>A (p.Val1362=)
c.3972G>A (p.Val1324=)
c.2721G>A (p.Val907=)
n.550G>A
c.392G>A
n.168G>A
n.3023G>A
c.4041G>A (p.Val1347=)
c.3669G>A (p.Val1223=)
c.4032G>A (p.Val1344=)
c.3333G>A (p.Val1111=)
c.4080G>A (p.Val1360=)
 dbSNP gnomAD v4
16g.3740447A>CCA394565300CREBBPc.4085T>G (p.Val1362Gly)
c.3971T>G (p.Val1324Gly)
c.2720T>G (p.Val907Gly)
n.549T>G
c.391T>G
n.167T>G
n.3022T>G
c.4040T>G (p.Val1347Gly)
c.3668T>G (p.Val1223Gly)
c.4031T>G (p.Val1344Gly)
c.3332T>G (p.Val1111Gly)
c.4079T>G (p.Val1360Gly)
16g.3740447A>GCA394565301CREBBPc.4085T>C (p.Val1362Ala)
c.3971T>C (p.Val1324Ala)
c.2720T>C (p.Val907Ala)
n.549T>C
c.391T>C
n.167T>C
n.3022T>C
c.4040T>C (p.Val1347Ala)
c.3668T>C (p.Val1223Ala)
c.4031T>C (p.Val1344Ala)
c.3332T>C (p.Val1111Ala)
c.4079T>C (p.Val1360Ala)
16g.3740447A>TCA394565302CREBBPc.4085T>A (p.Val1362Glu)
c.3971T>A (p.Val1324Glu)
c.2720T>A (p.Val907Glu)
n.549T>A
c.391T>A
n.167T>A
n.3022T>A
c.4040T>A (p.Val1347Glu)
c.3668T>A (p.Val1223Glu)
c.4031T>A (p.Val1344Glu)
c.3332T>A (p.Val1111Glu)
c.4079T>A (p.Val1360Glu)
 dbSNP
16g.3740448C>ACA394565303CREBBPc.4084G>T (p.Val1362Leu)
c.3970G>T (p.Val1324Leu)
c.2719G>T (p.Val907Leu)
n.548G>T
c.390G>T
n.166G>T
n.3021G>T
c.4039G>T (p.Val1347Leu)
c.3667G>T (p.Val1223Leu)
c.4030G>T (p.Val1344Leu)
c.3331G>T (p.Val1111Leu)
c.4078G>T (p.Val1360Leu)
 gnomAD v4
16g.3740448C=CA2202940830CREBBPc.4084G= (p.Val1362=)
c.3970G= (p.Val1324=)
c.2719G= (p.Val907=)
n.548G=
c.390G=
n.166G=
n.3021G=
c.4039G= (p.Val1347=)
c.3667G= (p.Val1223=)
c.4030G= (p.Val1344=)
c.3331G= (p.Val1111=)
c.4078G= (p.Val1360=)
16g.3740448C>GCA394565304CREBBPc.4084G>C (p.Val1362Leu)
c.3970G>C (p.Val1324Leu)
c.2719G>C (p.Val907Leu)
n.548G>C
c.390G>C
n.166G>C
n.3021G>C
c.4039G>C (p.Val1347Leu)
c.3667G>C (p.Val1223Leu)
c.4030G>C (p.Val1344Leu)
c.3331G>C (p.Val1111Leu)
c.4078G>C (p.Val1360Leu)
 dbSNP
16g.3740448C>TCA394565305CREBBPc.4084G>A (p.Val1362Met)
c.3970G>A (p.Val1324Met)
c.2719G>A (p.Val907Met)
n.548G>A
c.390G>A
n.166G>A
n.3021G>A
c.4039G>A (p.Val1347Met)
c.3667G>A (p.Val1223Met)
c.4030G>A (p.Val1344Met)
c.3331G>A (p.Val1111Met)
c.4078G>A (p.Val1360Met)
 dbSNP gnomAD v3 gnomAD v4
16g.3740449C>ACA493280348CREBBPc.4083G>T (p.Val1361=)
c.3969G>T (p.Val1323=)
c.2718G>T (p.Val906=)
n.547G>T
c.389G>T
n.165G>T
n.3020G>T
c.4038G>T (p.Val1346=)
c.3666G>T (p.Val1222=)
c.4029G>T (p.Val1343=)
c.3330G>T (p.Val1110=)
c.4077G>T (p.Val1359=)
16g.3740449C>GCA493280349CREBBPc.4083G>C (p.Val1361=)
c.3969G>C (p.Val1323=)
c.2718G>C (p.Val906=)
n.547G>C
c.389G>C
n.165G>C
n.3020G>C
c.4038G>C (p.Val1346=)
c.3666G>C (p.Val1222=)
c.4029G>C (p.Val1343=)
c.3330G>C (p.Val1110=)
c.4077G>C (p.Val1359=)
 gnomAD v4
16g.3740449C>TCA493280350CREBBPc.4083G>A (p.Val1361=)
c.3969G>A (p.Val1323=)
c.2718G>A (p.Val906=)
n.547G>A
c.389G>A
n.165G>A
n.3020G>A
c.4038G>A (p.Val1346=)
c.3666G>A (p.Val1222=)
c.4029G>A (p.Val1343=)
c.3330G>A (p.Val1110=)
c.4077G>A (p.Val1359=)
 dbSNP
16g.3740450A>CCA394565306CREBBPc.4082T>G (p.Val1361Gly)
c.3968T>G (p.Val1323Gly)
c.2717T>G (p.Val906Gly)
n.546T>G
c.388T>G
n.164T>G
n.3019T>G
c.4037T>G (p.Val1346Gly)
c.3665T>G (p.Val1222Gly)
c.4028T>G (p.Val1343Gly)
c.3329T>G (p.Val1110Gly)
c.4076T>G (p.Val1359Gly)
 dbSNP
16g.3740450A>GCA394565307CREBBPc.4082T>C (p.Val1361Ala)
c.3968T>C (p.Val1323Ala)
c.2717T>C (p.Val906Ala)
n.546T>C
c.388T>C
n.164T>C
n.3019T>C
c.4037T>C (p.Val1346Ala)
c.3665T>C (p.Val1222Ala)
c.4028T>C (p.Val1343Ala)
c.3329T>C (p.Val1110Ala)
c.4076T>C (p.Val1359Ala)
 dbSNP
16g.3740450A>TCA394565308CREBBPc.4082T>A (p.Val1361Glu)
c.3968T>A (p.Val1323Glu)
c.2717T>A (p.Val906Glu)
n.546T>A
c.388T>A
n.164T>A
n.3019T>A
c.4037T>A (p.Val1346Glu)
c.3665T>A (p.Val1222Glu)
c.4028T>A (p.Val1343Glu)
c.3329T>A (p.Val1110Glu)
c.4076T>A (p.Val1359Glu)
 dbSNP
16g.3740451C>ACA394565310CREBBPc.4081G>T (p.Val1361Leu)
c.3967G>T (p.Val1323Leu)
c.2716G>T (p.Val906Leu)
n.545G>T
c.387G>T
n.163G>T
n.3018G>T
c.4036G>T (p.Val1346Leu)
c.3664G>T (p.Val1222Leu)
c.4027G>T (p.Val1343Leu)
c.3328G>T (p.Val1110Leu)
c.4075G>T (p.Val1359Leu)
16g.3740451C=CA2202940832CREBBPc.4081G= (p.Val1361=)
c.3967G= (p.Val1323=)
c.2716G= (p.Val906=)
n.545G=
c.387G=
n.163G=
n.3018G=
c.4036G= (p.Val1346=)
c.3664G= (p.Val1222=)
c.4027G= (p.Val1343=)
c.3328G= (p.Val1110=)
c.4075G= (p.Val1359=)
16g.3740451C>GCA276983206CREBBPc.4081G>C (p.Val1361Leu)
c.3967G>C (p.Val1323Leu)
c.2716G>C (p.Val906Leu)
n.545G>C
c.387G>C
n.163G>C
n.3018G>C
c.4036G>C (p.Val1346Leu)
c.3664G>C (p.Val1222Leu)
c.4027G>C (p.Val1343Leu)
c.3328G>C (p.Val1110Leu)
c.4075G>C (p.Val1359Leu)
 dbSNP
16g.3740451C>TCA394565309CREBBPc.4081G>A (p.Val1361Met)
c.3967G>A (p.Val1323Met)
c.2716G>A (p.Val906Met)
n.545G>A
c.387G>A
n.163G>A
n.3018G>A
c.4036G>A (p.Val1346Met)
c.3664G>A (p.Val1222Met)
c.4027G>A (p.Val1343Met)
c.3328G>A (p.Val1110Met)
c.4075G>A (p.Val1359Met)
 gnomAD v4
16g.3740452T>ACA493280352CREBBPc.4080A>T (p.Arg1360=)
c.3966A>T (p.Arg1322=)
c.2715A>T (p.Arg905=)
n.544A>T
c.386A>T
n.162A>T
n.3017A>T
c.4035A>T (p.Arg1345=)
c.3663A>T (p.Arg1221=)
c.4026A>T (p.Arg1342=)
c.3327A>T (p.Arg1109=)
c.4074A>T (p.Arg1358=)
 dbSNP
16g.3740452T>CCA493280353CREBBPc.4080A>G (p.Arg1360=)
c.3966A>G (p.Arg1322=)
c.2715A>G (p.Arg905=)
n.544A>G
c.386A>G
n.162A>G
n.3017A>G
c.4035A>G (p.Arg1345=)
c.3663A>G (p.Arg1221=)
c.4026A>G (p.Arg1342=)
c.3327A>G (p.Arg1109=)
c.4074A>G (p.Arg1358=)
 dbSNP
16g.3740452T>GCA493280354CREBBPc.4080A>C (p.Arg1360=)
c.3966A>C (p.Arg1322=)
c.2715A>C (p.Arg905=)
n.544A>C
c.386A>C
n.162A>C
n.3017A>C
c.4035A>C (p.Arg1345=)
c.3663A>C (p.Arg1221=)
c.4026A>C (p.Arg1342=)
c.3327A>C (p.Arg1109=)
c.4074A>C (p.Arg1358=)
16g.3740453C>ACA394565311CREBBPc.4079G>T (p.Arg1360Leu)
c.3965G>T (p.Arg1322Leu)
c.2714G>T (p.Arg905Leu)
n.543G>T
c.385G>T
n.161G>T
n.3016G>T
c.4034G>T (p.Arg1345Leu)
c.3662G>T (p.Arg1221Leu)
c.4025G>T (p.Arg1342Leu)
c.3326G>T (p.Arg1109Leu)
c.4073G>T (p.Arg1358Leu)
 dbSNP
16g.3740453C=CA2202940835CREBBPc.4079G= (p.Arg1360=)
c.3965G= (p.Arg1322=)
c.2714G= (p.Arg905=)
n.543G=
c.385G=
n.161G=
n.3016G=
c.4034G= (p.Arg1345=)
c.3662G= (p.Arg1221=)
c.4025G= (p.Arg1342=)
c.3326G= (p.Arg1109=)
c.4073G= (p.Arg1358=)
16g.3740453C>GCA394565312CREBBPc.4079G>C (p.Arg1360Pro)
c.3965G>C (p.Arg1322Pro)
c.2714G>C (p.Arg905Pro)
n.543G>C
c.385G>C
n.161G>C
n.3016G>C
c.4034G>C (p.Arg1345Pro)
c.3662G>C (p.Arg1221Pro)
c.4025G>C (p.Arg1342Pro)
c.3326G>C (p.Arg1109Pro)
c.4073G>C (p.Arg1358Pro)
 dbSNP
16g.3740453C>TCA394565313CREBBPc.4079G>A (p.Arg1360Gln)
c.3965G>A (p.Arg1322Gln)
c.2714G>A (p.Arg905Gln)
n.543G>A
c.385G>A
n.161G>A
n.3016G>A
c.4034G>A (p.Arg1345Gln)
c.3662G>A (p.Arg1221Gln)
c.4025G>A (p.Arg1342Gln)
c.3326G>A (p.Arg1109Gln)
c.4073G>A (p.Arg1358Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.3740454G>ACA271405CREBBPc.4078C>T (p.Arg1360Ter)
c.3964C>T (p.Arg1322Ter)
c.2713C>T (p.Arg905Ter)
n.542C>T
c.384C>T
n.160C>T
n.3015C>T
c.4033C>T (p.Arg1345Ter)
c.3661C>T (p.Arg1221Ter)
c.4024C>T (p.Arg1342Ter)
c.3325C>T (p.Arg1109Ter)
c.4072C>T (p.Arg1358Ter)
 ClinVar dbSNP COSMIC
16g.3740454G>CCA394565314CREBBPc.4078C>G (p.Arg1360Gly)
c.3964C>G (p.Arg1322Gly)
c.2713C>G (p.Arg905Gly)
n.542C>G
c.384C>G
n.160C>G
n.3015C>G
c.4033C>G (p.Arg1345Gly)
c.3661C>G (p.Arg1221Gly)
c.4024C>G (p.Arg1342Gly)
c.3325C>G (p.Arg1109Gly)
c.4072C>G (p.Arg1358Gly)
 dbSNP
16g.3740454G=CA2202940843CREBBPc.4078C= (p.Arg1360=)
c.3964C= (p.Arg1322=)
c.2713C= (p.Arg905=)
n.542C=
c.384C=
n.160C=
n.3015C=
c.4033C= (p.Arg1345=)
c.3661C= (p.Arg1221=)
c.4024C= (p.Arg1342=)
c.3325C= (p.Arg1109=)
c.4072C= (p.Arg1358=)
16g.3740454G>TCA493280357CREBBPc.4078C>A (p.Arg1360=)
c.3964C>A (p.Arg1322=)
c.2713C>A (p.Arg905=)
n.542C>A
c.384C>A
n.160C>A
n.3015C>A
c.4033C>A (p.Arg1345=)
c.3661C>A (p.Arg1221=)
c.4024C>A (p.Arg1342=)
c.3325C>A (p.Arg1109=)
c.4072C>A (p.Arg1358=)
 dbSNP
16g.3740455dupCA915949075CREBBPc.4078dup (p.Arg1360ProfsTer28)
c.3964dup (p.Arg1322ProfsTer28)
c.2713dup (p.Arg905ProfsTer28)
n.542dup
c.384dup
n.160dup
n.3015dup
c.4033dup (p.Arg1345ProfsTer28)
c.3661dup (p.Arg1221ProfsTer28)
c.4078dup (p.Arg1360ProfsTer?)
c.4024dup (p.Arg1342ProfsTer28)
c.3325dup (p.Arg1109ProfsTer28)
c.4072dup (p.Arg1358ProfsTer28)
 ClinVar dbSNP
16g.3740455G>ACA493280359CREBBPc.4077C>T (p.Val1359=)
c.3963C>T (p.Val1321=)
c.2712C>T (p.Val904=)
n.541C>T
c.383C>T
n.159C>T
n.3014C>T
c.4032C>T (p.Val1344=)
c.3660C>T (p.Val1220=)
c.4023C>T (p.Val1341=)
c.3324C>T (p.Val1108=)
c.4071C>T (p.Val1357=)
 dbSNP
16g.3740455G>CCA493280360CREBBPc.4077C>G (p.Val1359=)
c.3963C>G (p.Val1321=)
c.2712C>G (p.Val904=)
n.541C>G
c.383C>G
n.159C>G
n.3014C>G
c.4032C>G (p.Val1344=)
c.3660C>G (p.Val1220=)
c.4023C>G (p.Val1341=)
c.3324C>G (p.Val1108=)
c.4071C>G (p.Val1357=)
 dbSNP
16g.3740455G>TCA493280361CREBBPc.4077C>A (p.Val1359=)
c.3963C>A (p.Val1321=)
c.2712C>A (p.Val904=)
n.541C>A
c.383C>A
n.159C>A
n.3014C>A
c.4032C>A (p.Val1344=)
c.3660C>A (p.Val1220=)
c.4023C>A (p.Val1341=)
c.3324C>A (p.Val1108=)
c.4071C>A (p.Val1357=)
 dbSNP
16g.3740456A>CCA394565315CREBBPc.4076T>G (p.Val1359Gly)
c.3962T>G (p.Val1321Gly)
c.2711T>G (p.Val904Gly)
n.540T>G
c.382T>G
n.158T>G
n.3013T>G
c.4031T>G (p.Val1344Gly)
c.3659T>G (p.Val1220Gly)
c.4022T>G (p.Val1341Gly)
c.3323T>G (p.Val1108Gly)
c.4070T>G (p.Val1357Gly)
 dbSNP
16g.3740456A>GCA394565316CREBBPc.4076T>C (p.Val1359Ala)
c.3962T>C (p.Val1321Ala)
c.2711T>C (p.Val904Ala)
n.540T>C
c.382T>C
n.158T>C
n.3013T>C
c.4031T>C (p.Val1344Ala)
c.3659T>C (p.Val1220Ala)
c.4022T>C (p.Val1341Ala)
c.3323T>C (p.Val1108Ala)
c.4070T>C (p.Val1357Ala)
16g.3740456A>TCA394565317CREBBPc.4076T>A (p.Val1359Asp)
c.3962T>A (p.Val1321Asp)
c.2711T>A (p.Val904Asp)
n.540T>A
c.382T>A
n.158T>A
n.3013T>A
c.4031T>A (p.Val1344Asp)
c.3659T>A (p.Val1220Asp)
c.4022T>A (p.Val1341Asp)
c.3323T>A (p.Val1108Asp)
c.4070T>A (p.Val1357Asp)
 dbSNP gnomAD v4
16g.3740457C>ACA394565318CREBBPc.4075G>T (p.Val1359Phe)
c.3961G>T (p.Val1321Phe)
c.2710G>T (p.Val904Phe)
n.539G>T
c.381G>T
n.157G>T
n.3012G>T
c.4030G>T (p.Val1344Phe)
c.3658G>T (p.Val1220Phe)
c.4021G>T (p.Val1341Phe)
c.3322G>T (p.Val1108Phe)
c.4069G>T (p.Val1357Phe)
 dbSNP
16g.3740457C=CA2202940846CREBBPc.4075G= (p.Val1359=)
c.3961G= (p.Val1321=)
c.2710G= (p.Val904=)
n.539G=
c.381G=
n.157G=
n.3012G=
c.4030G= (p.Val1344=)
c.3658G= (p.Val1220=)
c.4021G= (p.Val1341=)
c.3322G= (p.Val1108=)
c.4069G= (p.Val1357=)
16g.3740457C>GCA394565319CREBBPc.4075G>C (p.Val1359Leu)
c.3961G>C (p.Val1321Leu)
c.2710G>C (p.Val904Leu)
n.539G>C
c.381G>C
n.157G>C
n.3012G>C
c.4030G>C (p.Val1344Leu)
c.3658G>C (p.Val1220Leu)
c.4021G>C (p.Val1341Leu)
c.3322G>C (p.Val1108Leu)
c.4069G>C (p.Val1357Leu)
 dbSNP
16g.3740457C>TCA394565320CREBBPc.4075G>A (p.Val1359Ile)
c.3961G>A (p.Val1321Ile)
c.2710G>A (p.Val904Ile)
n.539G>A
c.381G>A
n.157G>A
n.3012G>A
c.4030G>A (p.Val1344Ile)
c.3658G>A (p.Val1220Ile)
c.4021G>A (p.Val1341Ile)
c.3322G>A (p.Val1108Ile)
c.4069G>A (p.Val1357Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.3740458A=CA2202940848CREBBPc.4074T= (p.Phe1358=)
c.3960T= (p.Phe1320=)
c.2709T= (p.Phe903=)
n.538T=
c.380T=
n.156T=
n.3011T=
c.4029T= (p.Phe1343=)
c.3657T= (p.Phe1219=)
c.4020T= (p.Phe1340=)
c.3321T= (p.Phe1107=)
c.4068T= (p.Phe1356=)
16g.3740458A>CCA394565321CREBBPc.4074T>G (p.Phe1358Leu)
c.3960T>G (p.Phe1320Leu)
c.2709T>G (p.Phe903Leu)
n.538T>G
c.380T>G
n.156T>G
n.3011T>G
c.4029T>G (p.Phe1343Leu)
c.3657T>G (p.Phe1219Leu)
c.4020T>G (p.Phe1340Leu)
c.3321T>G (p.Phe1107Leu)
c.4068T>G (p.Phe1356Leu)
16g.3740458A>GCA493280365CREBBPc.4074T>C (p.Phe1358=)
c.3960T>C (p.Phe1320=)
c.2709T>C (p.Phe903=)
n.538T>C
c.380T>C
n.156T>C
n.3011T>C
c.4029T>C (p.Phe1343=)
c.3657T>C (p.Phe1219=)
c.4020T>C (p.Phe1340=)
c.3321T>C (p.Phe1107=)
c.4068T>C (p.Phe1356=)
 dbSNP gnomAD v3 gnomAD v4
16g.3740458A>TCA394565322CREBBPc.4074T>A (p.Phe1358Leu)
c.3960T>A (p.Phe1320Leu)
c.2709T>A (p.Phe903Leu)
n.538T>A
c.380T>A
n.156T>A
n.3011T>A
c.4029T>A (p.Phe1343Leu)
c.3657T>A (p.Phe1219Leu)
c.4020T>A (p.Phe1340Leu)
c.3321T>A (p.Phe1107Leu)
c.4068T>A (p.Phe1356Leu)
16g.3740462delCA493280367CREBBPc.4074del (p.Phe1358LeufsTer18)
c.3960del (p.Phe1320LeufsTer18)
c.2709del (p.Phe903LeufsTer18)
n.538del
c.380del
n.156del
n.3011del
c.4029del (p.Phe1343LeufsTer18)
c.3657del (p.Phe1219LeufsTer18)
c.4020del (p.Phe1340LeufsTer18)
c.3321del (p.Phe1107LeufsTer18)
c.4068del (p.Phe1356LeufsTer18)
 COSMIC
16g.3740459A=CA2202940851CREBBPc.4073T= (p.Phe1358=)
c.3959T= (p.Phe1320=)
c.2708T= (p.Phe903=)
n.537T=
c.379T=
n.155T=
n.3010T=
c.4028T= (p.Phe1343=)
c.3656T= (p.Phe1219=)
c.4019T= (p.Phe1340=)
c.3320T= (p.Phe1107=)
c.4067T= (p.Phe1356=)
16g.3740459A>CCA394565324CREBBPc.4073T>G (p.Phe1358Cys)
c.3959T>G (p.Phe1320Cys)
c.2708T>G (p.Phe903Cys)
n.537T>G
c.379T>G
n.155T>G
n.3010T>G
c.4028T>G (p.Phe1343Cys)
c.3656T>G (p.Phe1219Cys)
c.4019T>G (p.Phe1340Cys)
c.3320T>G (p.Phe1107Cys)
c.4067T>G (p.Phe1356Cys)
 dbSNP
16g.3740459A>GCA7869624CREBBPc.4073T>C (p.Phe1358Ser)
c.3959T>C (p.Phe1320Ser)
c.2708T>C (p.Phe903Ser)
n.537T>C
c.379T>C
n.155T>C
n.3010T>C
c.4028T>C (p.Phe1343Ser)
c.3656T>C (p.Phe1219Ser)
c.4019T>C (p.Phe1340Ser)
c.3320T>C (p.Phe1107Ser)
c.4067T>C (p.Phe1356Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3740459A>TCA394565323CREBBPc.4073T>A (p.Phe1358Tyr)
c.3959T>A (p.Phe1320Tyr)
c.2708T>A (p.Phe903Tyr)
n.537T>A
c.379T>A
n.155T>A
n.3010T>A
c.4028T>A (p.Phe1343Tyr)
c.3656T>A (p.Phe1219Tyr)
c.4019T>A (p.Phe1340Tyr)
c.3320T>A (p.Phe1107Tyr)
c.4067T>A (p.Phe1356Tyr)
 dbSNP
16g.3740460A>CCA394565325CREBBPc.4072T>G (p.Phe1358Val)
c.3958T>G (p.Phe1320Val)
c.2707T>G (p.Phe903Val)
n.536T>G
c.378T>G
n.154T>G
n.3009T>G
c.4027T>G (p.Phe1343Val)
c.3655T>G (p.Phe1219Val)
c.4018T>G (p.Phe1340Val)
c.3319T>G (p.Phe1107Val)
c.4066T>G (p.Phe1356Val)
16g.3740460A>GCA394565327CREBBPc.4072T>C (p.Phe1358Leu)
c.3958T>C (p.Phe1320Leu)
c.2707T>C (p.Phe903Leu)
n.536T>C
c.378T>C
n.154T>C
n.3009T>C
c.4027T>C (p.Phe1343Leu)
c.3655T>C (p.Phe1219Leu)
c.4018T>C (p.Phe1340Leu)
c.3319T>C (p.Phe1107Leu)
c.4066T>C (p.Phe1356Leu)
 dbSNP
16g.3740460A>TCA394565326CREBBPc.4072T>A (p.Phe1358Ile)
c.3958T>A (p.Phe1320Ile)
c.2707T>A (p.Phe903Ile)
n.536T>A
c.378T>A
n.154T>A
n.3009T>A
c.4027T>A (p.Phe1343Ile)
c.3655T>A (p.Phe1219Ile)
c.4018T>A (p.Phe1340Ile)
c.3319T>A (p.Phe1107Ile)
c.4066T>A (p.Phe1356Ile)
16g.3740461A>CCA493280370CREBBPc.4071T>G (p.Val1357=)
c.3957T>G (p.Val1319=)
c.2706T>G (p.Val902=)
n.535T>G
c.377T>G
n.153T>G
n.3008T>G
c.4026T>G (p.Val1342=)
c.3654T>G (p.Val1218=)
c.4017T>G (p.Val1339=)
c.3318T>G (p.Val1106=)
c.4065T>G (p.Val1355=)
 dbSNP
16g.3740461A>GCA493280371CREBBPc.4071T>C (p.Val1357=)
c.3957T>C (p.Val1319=)
c.2706T>C (p.Val902=)
n.535T>C
c.377T>C
n.153T>C
n.3008T>C
c.4026T>C (p.Val1342=)
c.3654T>C (p.Val1218=)
c.4017T>C (p.Val1339=)
c.3318T>C (p.Val1106=)
c.4065T>C (p.Val1355=)
16g.3740461A>TCA493280372CREBBPc.4071T>A (p.Val1357=)
c.3957T>A (p.Val1319=)
c.2706T>A (p.Val902=)
n.535T>A
c.377T>A
n.153T>A
n.3008T>A
c.4026T>A (p.Val1342=)
c.3654T>A (p.Val1218=)
c.4017T>A (p.Val1339=)
c.3318T>A (p.Val1106=)
c.4065T>A (p.Val1355=)
 dbSNP
16g.3740461_3740465delCA2580091123CREBBPc.4067_4071del (p.Glu1356ValfsTer30)
c.3953_3957del (p.Glu1318ValfsTer30)
c.2702_2706del (p.Glu901ValfsTer30)
n.531_535del
c.373_377del
n.149_153del
n.3004_3008del
c.4022_4026del (p.Glu1341ValfsTer30)
c.3650_3654del (p.Glu1217ValfsTer30)
c.4067_4071del (p.Glu1356ValfsTer?)
c.4013_4017del (p.Glu1338ValfsTer30)
c.3314_3318del (p.Glu1105ValfsTer30)
c.4061_4065del (p.Glu1354ValfsTer30)
 ClinVar
16g.3740462A>CCA394565328CREBBPc.4070T>G (p.Val1357Gly)
c.3956T>G (p.Val1319Gly)
c.2705T>G (p.Val902Gly)
n.534T>G
c.376T>G
n.152T>G
n.3007T>G
c.4025T>G (p.Val1342Gly)
c.3653T>G (p.Val1218Gly)
c.4016T>G (p.Val1339Gly)
c.3317T>G (p.Val1106Gly)
c.4064T>G (p.Val1355Gly)
 dbSNP
16g.3740462A>GCA394565329CREBBPc.4070T>C (p.Val1357Ala)
c.3956T>C (p.Val1319Ala)
c.2705T>C (p.Val902Ala)
n.534T>C
c.376T>C
n.152T>C
n.3007T>C
c.4025T>C (p.Val1342Ala)
c.3653T>C (p.Val1218Ala)
c.4016T>C (p.Val1339Ala)
c.3317T>C (p.Val1106Ala)
c.4064T>C (p.Val1355Ala)
 dbSNP
16g.3740462A>TCA394565330CREBBPc.4070T>A (p.Val1357Asp)
c.3956T>A (p.Val1319Asp)
c.2705T>A (p.Val902Asp)
n.534T>A
c.376T>A
n.152T>A
n.3007T>A
c.4025T>A (p.Val1342Asp)
c.3653T>A (p.Val1218Asp)
c.4016T>A (p.Val1339Asp)
c.3317T>A (p.Val1106Asp)
c.4064T>A (p.Val1355Asp)
 dbSNP
16g.3740463C>ACA394565331CREBBPc.4069G>T (p.Val1357Phe)
c.3955G>T (p.Val1319Phe)
c.2704G>T (p.Val902Phe)
n.533G>T
c.375G>T
n.151G>T
n.3006G>T
c.4024G>T (p.Val1342Phe)
c.3652G>T (p.Val1218Phe)
c.4015G>T (p.Val1339Phe)
c.3316G>T (p.Val1106Phe)
c.4063G>T (p.Val1355Phe)
 dbSNP
16g.3740463C=CA2202940855CREBBPc.4069G= (p.Val1357=)
c.3955G= (p.Val1319=)
c.2704G= (p.Val902=)
n.533G=
c.375G=
n.151G=
n.3006G=
c.4024G= (p.Val1342=)
c.3652G= (p.Val1218=)
c.4015G= (p.Val1339=)
c.3316G= (p.Val1106=)
c.4063G= (p.Val1355=)
16g.3740463C>GCA394565332CREBBPc.4069G>C (p.Val1357Leu)
c.3955G>C (p.Val1319Leu)
c.2704G>C (p.Val902Leu)
n.533G>C
c.375G>C
n.151G>C
n.3006G>C
c.4024G>C (p.Val1342Leu)
c.3652G>C (p.Val1218Leu)
c.4015G>C (p.Val1339Leu)
c.3316G>C (p.Val1106Leu)
c.4063G>C (p.Val1355Leu)
 dbSNP
16g.3740463C>TCA394565333CREBBPc.4069G>A (p.Val1357Ile)
c.3955G>A (p.Val1319Ile)
c.2704G>A (p.Val902Ile)
n.533G>A
c.375G>A
n.151G>A
n.3006G>A
c.4024G>A (p.Val1342Ile)
c.3652G>A (p.Val1218Ile)
c.4015G>A (p.Val1339Ile)
c.3316G>A (p.Val1106Ile)
c.4063G>A (p.Val1355Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.3740464C>ACA394565334CREBBPc.4068G>T (p.Glu1356Asp)
c.3954G>T (p.Glu1318Asp)
c.2703G>T (p.Glu901Asp)
n.532G>T
c.374G>T
n.150G>T
n.3005G>T
c.4023G>T (p.Glu1341Asp)
c.3651G>T (p.Glu1217Asp)
c.4014G>T (p.Glu1338Asp)
c.3315G>T (p.Glu1105Asp)
c.4062G>T (p.Glu1354Asp)
 dbSNP
16g.3740464C=CA2202940857CREBBPc.4068G= (p.Glu1356=)
c.3954G= (p.Glu1318=)
c.2703G= (p.Glu901=)
n.532G=
c.374G=
n.150G=
n.3005G=
c.4023G= (p.Glu1341=)
c.3651G= (p.Glu1217=)
c.4014G= (p.Glu1338=)
c.3315G= (p.Glu1105=)
c.4062G= (p.Glu1354=)
16g.3740464C>GCA394565335CREBBPc.4068G>C (p.Glu1356Asp)
c.3954G>C (p.Glu1318Asp)
c.2703G>C (p.Glu901Asp)
n.532G>C
c.374G>C
n.150G>C
n.3005G>C
c.4023G>C (p.Glu1341Asp)
c.3651G>C (p.Glu1217Asp)
c.4014G>C (p.Glu1338Asp)
c.3315G>C (p.Glu1105Asp)
c.4062G>C (p.Glu1354Asp)
 dbSNP
16g.3740464C>TCA7869625CREBBPc.4068G>A (p.Glu1356=)
c.3954G>A (p.Glu1318=)
c.2703G>A (p.Glu901=)
n.532G>A
c.374G>A
n.150G>A
n.3005G>A
c.4023G>A (p.Glu1341=)
c.3651G>A (p.Glu1217=)
c.4014G>A (p.Glu1338=)
c.3315G>A (p.Glu1105=)
c.4062G>A (p.Glu1354=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3740465T>ACA394565336CREBBPc.4067A>T (p.Glu1356Val)
c.3953A>T (p.Glu1318Val)
c.2702A>T (p.Glu901Val)
n.531A>T
c.373A>T
n.149A>T
n.3004A>T
c.4022A>T (p.Glu1341Val)
c.3650A>T (p.Glu1217Val)
c.4013A>T (p.Glu1338Val)
c.3314A>T (p.Glu1105Val)
c.4061A>T (p.Glu1354Val)
16g.3740465T>CCA394565337CREBBPc.4067A>G (p.Glu1356Gly)
c.3953A>G (p.Glu1318Gly)
c.2702A>G (p.Glu901Gly)
n.531A>G
c.373A>G
n.149A>G
n.3004A>G
c.4022A>G (p.Glu1341Gly)
c.3650A>G (p.Glu1217Gly)
c.4013A>G (p.Glu1338Gly)
c.3314A>G (p.Glu1105Gly)
c.4061A>G (p.Glu1354Gly)
 dbSNP
16g.3740465T>GCA394565338CREBBPc.4067A>C (p.Glu1356Ala)
c.3953A>C (p.Glu1318Ala)
c.2702A>C (p.Glu901Ala)
n.531A>C
c.373A>C
n.149A>C
n.3004A>C
c.4022A>C (p.Glu1341Ala)
c.3650A>C (p.Glu1217Ala)
c.4013A>C (p.Glu1338Ala)
c.3314A>C (p.Glu1105Ala)
c.4061A>C (p.Glu1354Ala)
16g.3740466C>ACA394565341CREBBPc.4066G>T (p.Glu1356Ter)
c.3952G>T (p.Glu1318Ter)
c.2701G>T (p.Glu901Ter)
n.530G>T
c.372G>T
n.148G>T
n.3003G>T
c.4021G>T (p.Glu1341Ter)
c.3649G>T (p.Glu1217Ter)
c.4012G>T (p.Glu1338Ter)
c.3313G>T (p.Glu1105Ter)
c.4060G>T (p.Glu1354Ter)
 dbSNP
16g.3740466C=CA2202940862CREBBPc.4066G= (p.Glu1356=)
c.3952G= (p.Glu1318=)
c.2701G= (p.Glu901=)
n.530G=
c.372G=
n.148G=
n.3003G=
c.4021G= (p.Glu1341=)
c.3649G= (p.Glu1217=)
c.4012G= (p.Glu1338=)
c.3313G= (p.Glu1105=)
c.4060G= (p.Glu1354=)
16g.3740466C>GCA394565339CREBBPc.4066G>C (p.Glu1356Gln)
c.3952G>C (p.Glu1318Gln)
c.2701G>C (p.Glu901Gln)
n.530G>C
c.372G>C
n.148G>C
n.3003G>C
c.4021G>C (p.Glu1341Gln)
c.3649G>C (p.Glu1217Gln)
c.4012G>C (p.Glu1338Gln)
c.3313G>C (p.Glu1105Gln)
c.4060G>C (p.Glu1354Gln)
 dbSNP
16g.3740466C>TCA394565340CREBBPc.4066G>A (p.Glu1356Lys)
c.3952G>A (p.Glu1318Lys)
c.2701G>A (p.Glu901Lys)
n.530G>A
c.372G>A
n.148G>A
n.3003G>A
c.4021G>A (p.Glu1341Lys)
c.3649G>A (p.Glu1217Lys)
c.4012G>A (p.Glu1338Lys)
c.3313G>A (p.Glu1105Lys)
c.4060G>A (p.Glu1354Lys)
 ClinVar dbSNP
16g.3740467C>ACA493280377CREBBPc.4065G>T (p.Gly1355=)
c.3951G>T (p.Gly1317=)
c.2700G>T (p.Gly900=)
n.529G>T
c.371G>T
n.147G>T
n.3002G>T
c.4020G>T (p.Gly1340=)
c.3648G>T (p.Gly1216=)
c.4011G>T (p.Gly1337=)
c.3312G>T (p.Gly1104=)
c.4059G>T (p.Gly1353=)
 dbSNP
16g.3740467C>GCA493280378CREBBPc.4065G>C (p.Gly1355=)
c.3951G>C (p.Gly1317=)
c.2700G>C (p.Gly900=)
n.529G>C
c.371G>C
n.147G>C
n.3002G>C
c.4020G>C (p.Gly1340=)
c.3648G>C (p.Gly1216=)
c.4011G>C (p.Gly1337=)
c.3312G>C (p.Gly1104=)
c.4059G>C (p.Gly1353=)
 dbSNP
16g.3740467C>TCA493280379CREBBPc.4065G>A (p.Gly1355=)
c.3951G>A (p.Gly1317=)
c.2700G>A (p.Gly900=)
n.529G>A
c.371G>A
n.147G>A
n.3002G>A
c.4020G>A (p.Gly1340=)
c.3648G>A (p.Gly1216=)
c.4011G>A (p.Gly1337=)
c.3312G>A (p.Gly1104=)
c.4059G>A (p.Gly1353=)
 dbSNP
16g.3740468C>ACA394565342CREBBPc.4064G>T (p.Gly1355Val)
c.3950G>T (p.Gly1317Val)
c.2699G>T (p.Gly900Val)
n.528G>T
c.370G>T
n.146G>T
n.3001G>T
c.4019G>T (p.Gly1340Val)
c.3647G>T (p.Gly1216Val)
c.4010G>T (p.Gly1337Val)
c.3311G>T (p.Gly1104Val)
c.4058G>T (p.Gly1353Val)
 dbSNP
16g.3740468C>GCA394565343CREBBPc.4064G>C (p.Gly1355Ala)
c.3950G>C (p.Gly1317Ala)
c.2699G>C (p.Gly900Ala)
n.528G>C
c.370G>C
n.146G>C
n.3001G>C
c.4019G>C (p.Gly1340Ala)
c.3647G>C (p.Gly1216Ala)
c.4010G>C (p.Gly1337Ala)
c.3311G>C (p.Gly1104Ala)
c.4058G>C (p.Gly1353Ala)
 dbSNP
16g.3740468C>TCA394565344CREBBPc.4064G>A (p.Gly1355Glu)
c.3950G>A (p.Gly1317Glu)
c.2699G>A (p.Gly900Glu)
n.528G>A
c.370G>A
n.146G>A
n.3001G>A
c.4019G>A (p.Gly1340Glu)
c.3647G>A (p.Gly1216Glu)
c.4010G>A (p.Gly1337Glu)
c.3311G>A (p.Gly1104Glu)
c.4058G>A (p.Gly1353Glu)
 dbSNP
16g.3740469C>ACA394565345CREBBPc.4063G>T (p.Gly1355Trp)
c.3949G>T (p.Gly1317Trp)
c.2698G>T (p.Gly900Trp)
n.527G>T
c.369G>T
n.145G>T
n.3000G>T
c.4018G>T (p.Gly1340Trp)
c.3646G>T (p.Gly1216Trp)
c.4009G>T (p.Gly1337Trp)
c.3310G>T (p.Gly1104Trp)
c.4057G>T (p.Gly1353Trp)
 dbSNP
16g.3740469C=CA2202940864CREBBPc.4063G= (p.Gly1355=)
c.3949G= (p.Gly1317=)
c.2698G= (p.Gly900=)
n.527G=
c.369G=
n.145G=
n.3000G=
c.4018G= (p.Gly1340=)
c.3646G= (p.Gly1216=)
c.4009G= (p.Gly1337=)
c.3310G= (p.Gly1104=)
c.4057G= (p.Gly1353=)
16g.3740469C>GCA394565346CREBBPc.4063G>C (p.Gly1355Arg)
c.3949G>C (p.Gly1317Arg)
c.2698G>C (p.Gly900Arg)
n.527G>C
c.369G>C
n.145G>C
n.3000G>C
c.4018G>C (p.Gly1340Arg)
c.3646G>C (p.Gly1216Arg)
c.4009G>C (p.Gly1337Arg)
c.3310G>C (p.Gly1104Arg)
c.4057G>C (p.Gly1353Arg)
16g.3740469C>TCA7869626CREBBPc.4063G>A (p.Gly1355Arg)
c.3949G>A (p.Gly1317Arg)
c.2698G>A (p.Gly900Arg)
n.527G>A
c.369G>A
n.145G>A
n.3000G>A
c.4018G>A (p.Gly1340Arg)
c.3646G>A (p.Gly1216Arg)
c.4009G>A (p.Gly1337Arg)
c.3310G>A (p.Gly1104Arg)
c.4057G>A (p.Gly1353Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3740470G>ACA7869627CREBBPc.4062C>T (p.Ala1354=)
c.3948C>T (p.Ala1316=)
c.2697C>T (p.Ala899=)
n.526C>T
c.368C>T
n.144C>T
n.2999C>T
c.4017C>T (p.Ala1339=)
c.3645C>T (p.Ala1215=)
c.4008C>T (p.Ala1336=)
c.3309C>T (p.Ala1103=)
c.4056C>T (p.Ala1352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3740470G>CCA493280383CREBBPc.4062C>G (p.Ala1354=)
c.3948C>G (p.Ala1316=)
c.2697C>G (p.Ala899=)
n.526C>G
c.368C>G
n.144C>G
n.2999C>G
c.4017C>G (p.Ala1339=)
c.3645C>G (p.Ala1215=)
c.4008C>G (p.Ala1336=)
c.3309C>G (p.Ala1103=)
c.4056C>G (p.Ala1352=)
 ClinVar dbSNP gnomAD v4
16g.3740470G=CA2202940866CREBBPc.4062C= (p.Ala1354=)
c.3948C= (p.Ala1316=)
c.2697C= (p.Ala899=)
n.526C=
c.368C=
n.144C=
n.2999C=
c.4017C= (p.Ala1339=)
c.3645C= (p.Ala1215=)
c.4008C= (p.Ala1336=)
c.3309C= (p.Ala1103=)
c.4056C= (p.Ala1352=)
16g.3740470G>TCA493280384CREBBPc.4062C>A (p.Ala1354=)
c.3948C>A (p.Ala1316=)
c.2697C>A (p.Ala899=)
n.526C>A
c.368C>A
n.144C>A
n.2999C>A
c.4017C>A (p.Ala1339=)
c.3645C>A (p.Ala1215=)
c.4008C>A (p.Ala1336=)
c.3309C>A (p.Ala1103=)
c.4056C>A (p.Ala1352=)
 dbSNP
16g.3740471G>ACA394565347CREBBPc.4061C>T (p.Ala1354Val)
c.3947C>T (p.Ala1316Val)
c.2696C>T (p.Ala899Val)
n.525C>T
c.367C>T
n.143C>T
n.2998C>T
c.4016C>T (p.Ala1339Val)
c.3644C>T (p.Ala1215Val)
c.4007C>T (p.Ala1336Val)
c.3308C>T (p.Ala1103Val)
c.4055C>T (p.Ala1352Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3740471G>CCA394565348CREBBPc.4061C>G (p.Ala1354Gly)
c.3947C>G (p.Ala1316Gly)
c.2696C>G (p.Ala899Gly)
n.525C>G
c.367C>G
n.143C>G
n.2998C>G
c.4016C>G (p.Ala1339Gly)
c.3644C>G (p.Ala1215Gly)
c.4007C>G (p.Ala1336Gly)
c.3308C>G (p.Ala1103Gly)
c.4055C>G (p.Ala1352Gly)
 dbSNP
16g.3740471G=CA2202940869CREBBPc.4061C= (p.Ala1354=)
c.3947C= (p.Ala1316=)
c.2696C= (p.Ala899=)
n.525C=
c.367C=
n.143C=
n.2998C=
c.4016C= (p.Ala1339=)
c.3644C= (p.Ala1215=)
c.4007C= (p.Ala1336=)
c.3308C= (p.Ala1103=)
c.4055C= (p.Ala1352=)
16g.3740471G>TCA394565349CREBBPc.4061C>A (p.Ala1354Asp)
c.3947C>A (p.Ala1316Asp)
c.2696C>A (p.Ala899Asp)
n.525C>A
c.367C>A
n.143C>A
n.2998C>A
c.4016C>A (p.Ala1339Asp)
c.3644C>A (p.Ala1215Asp)
c.4007C>A (p.Ala1336Asp)
c.3308C>A (p.Ala1103Asp)
c.4055C>A (p.Ala1352Asp)
 dbSNP
16g.3740472C>ACA394565352CREBBPc.4060G>T (p.Ala1354Ser)
c.3946G>T (p.Ala1316Ser)
c.2695G>T (p.Ala899Ser)
n.524G>T
c.366G>T
n.142G>T
n.2997G>T
c.4015G>T (p.Ala1339Ser)
c.3643G>T (p.Ala1215Ser)
c.4006G>T (p.Ala1336Ser)
c.3307G>T (p.Ala1103Ser)
c.4054G>T (p.Ala1352Ser)
 dbSNP
16g.3740472C=CA2202940870CREBBPc.4060G= (p.Ala1354=)
c.3946G= (p.Ala1316=)
c.2695G= (p.Ala899=)
n.524G=
c.366G=
n.142G=
n.2997G=
c.4015G= (p.Ala1339=)
c.3643G= (p.Ala1215=)
c.4006G= (p.Ala1336=)
c.3307G= (p.Ala1103=)
c.4054G= (p.Ala1352=)
16g.3740472C>GCA394565351CREBBPc.4060G>C (p.Ala1354Pro)
c.3946G>C (p.Ala1316Pro)
c.2695G>C (p.Ala899Pro)
n.524G>C
c.366G>C
n.142G>C
n.2997G>C
c.4015G>C (p.Ala1339Pro)
c.3643G>C (p.Ala1215Pro)
c.4006G>C (p.Ala1336Pro)
c.3307G>C (p.Ala1103Pro)
c.4054G>C (p.Ala1352Pro)
 dbSNP
16g.3740472C>TCA394565350CREBBPc.4060G>A (p.Ala1354Thr)
c.3946G>A (p.Ala1316Thr)
c.2695G>A (p.Ala899Thr)
n.524G>A
c.366G>A
n.142G>A
n.2997G>A
c.4015G>A (p.Ala1339Thr)
c.3643G>A (p.Ala1215Thr)
c.4006G>A (p.Ala1336Thr)
c.3307G>A (p.Ala1103Thr)
c.4054G>A (p.Ala1352Thr)
 dbSNP
16g.3740473T>ACA394565353CREBBPc.4059A>T (p.Glu1353Asp)
c.3945A>T (p.Glu1315Asp)
c.2694A>T (p.Glu898Asp)
n.523A>T
c.365A>T
n.141A>T
n.2996A>T
c.4014A>T (p.Glu1338Asp)
c.3642A>T (p.Glu1214Asp)
c.4005A>T (p.Glu1335Asp)
c.3306A>T (p.Glu1102Asp)
c.4053A>T (p.Glu1351Asp)
 dbSNP
16g.3740473T>CCA493280385CREBBPc.4059A>G (p.Glu1353=)
c.3945A>G (p.Glu1315=)
c.2694A>G (p.Glu898=)
n.523A>G
c.365A>G
n.141A>G
n.2996A>G
c.4014A>G (p.Glu1338=)
c.3642A>G (p.Glu1214=)
c.4005A>G (p.Glu1335=)
c.3306A>G (p.Glu1102=)
c.4053A>G (p.Glu1351=)
 gnomAD v4
16g.3740473T>GCA394565354CREBBPc.4059A>C (p.Glu1353Asp)
c.3945A>C (p.Glu1315Asp)
c.2694A>C (p.Glu898Asp)
n.523A>C
c.365A>C
n.141A>C
n.2996A>C
c.4014A>C (p.Glu1338Asp)
c.3642A>C (p.Glu1214Asp)
c.4005A>C (p.Glu1335Asp)
c.3306A>C (p.Glu1102Asp)
c.4053A>C (p.Glu1351Asp)
16g.3740474T>ACA394565355CREBBPc.4058A>T (p.Glu1353Val)
c.3944A>T (p.Glu1315Val)
c.2693A>T (p.Glu898Val)
n.522A>T
c.364A>T
n.140A>T
n.2995A>T
c.4013A>T (p.Glu1338Val)
c.3641A>T (p.Glu1214Val)
c.4004A>T (p.Glu1335Val)
c.3305A>T (p.Glu1102Val)
c.4052A>T (p.Glu1351Val)
 dbSNP
16g.3740474T>CCA394565356CREBBPc.4058A>G (p.Glu1353Gly)
c.3944A>G (p.Glu1315Gly)
c.2693A>G (p.Glu898Gly)
n.522A>G
c.364A>G
n.140A>G
n.2995A>G
c.4013A>G (p.Glu1338Gly)
c.3641A>G (p.Glu1214Gly)
c.4004A>G (p.Glu1335Gly)
c.3305A>G (p.Glu1102Gly)
c.4052A>G (p.Glu1351Gly)
 dbSNP
16g.3740474T>GCA394565357CREBBPc.4058A>C (p.Glu1353Ala)
c.3944A>C (p.Glu1315Ala)
c.2693A>C (p.Glu898Ala)
n.522A>C
c.364A>C
n.140A>C
n.2995A>C
c.4013A>C (p.Glu1338Ala)
c.3641A>C (p.Glu1214Ala)
c.4004A>C (p.Glu1335Ala)
c.3305A>C (p.Glu1102Ala)
c.4052A>C (p.Glu1351Ala)
 gnomAD v4
16g.3740474_3740488delinsTCAGGGTGATTCTGGCA2202940871CREBBPc.4044_4058delinsCCAGAATCACCCTGA (p.Arg1348=)
c.3930_3944delinsCCAGAATCACCCTGA (p.Arg1310=)
c.2679_2693delinsCCAGAATCACCCTGA (p.Arg893=)
n.508_522delinsCCAGAATCACCCTGA
c.350_364delinsCCAGAATCACCCTGA
n.126_140delinsCCAGAATCACCCTGA
n.2981_2995delinsCCAGAATCACCCTGA
c.3999_4013delinsCCAGAATCACCCTGA (p.Arg1333=)
c.3627_3641delinsCCAGAATCACCCTGA (p.Arg1209=)
c.3990_4004delinsCCAGAATCACCCTGA (p.Arg1330=)
c.3291_3305delinsCCAGAATCACCCTGA (p.Arg1097=)
c.4038_4052delinsCCAGAATCACCCTGA (p.Arg1346=)
16g.3740475C>ACA394565358CREBBPc.4057G>T (p.Glu1353Ter)
c.3943G>T (p.Glu1315Ter)
c.2692G>T (p.Glu898Ter)
n.521G>T
c.363G>T
n.139G>T
n.2994G>T
c.4012G>T (p.Glu1338Ter)
c.3640G>T (p.Glu1214Ter)
c.4003G>T (p.Glu1335Ter)
c.3304G>T (p.Glu1102Ter)
c.4051G>T (p.Glu1351Ter)
 dbSNP
16g.3740475C>GCA394565359CREBBPc.4057G>C (p.Glu1353Gln)
c.3943G>C (p.Glu1315Gln)
c.2692G>C (p.Glu898Gln)
n.521G>C
c.363G>C
n.139G>C
n.2994G>C
c.4012G>C (p.Glu1338Gln)
c.3640G>C (p.Glu1214Gln)
c.4003G>C (p.Glu1335Gln)
c.3304G>C (p.Glu1102Gln)
c.4051G>C (p.Glu1351Gln)
 dbSNP
16g.3740475C>TCA394565360CREBBPc.4057G>A (p.Glu1353Lys)
c.3943G>A (p.Glu1315Lys)
c.2692G>A (p.Glu898Lys)
n.521G>A
c.363G>A
n.139G>A
n.2994G>A
c.4012G>A (p.Glu1338Lys)
c.3640G>A (p.Glu1214Lys)
c.4003G>A (p.Glu1335Lys)
c.3304G>A (p.Glu1102Lys)
c.4051G>A (p.Glu1351Lys)
 dbSNP
16g.3740476_3740489delCA658798531CREBBPc.4044_4057del (p.Gln1349SerfsTer?)
c.3930_3943del (p.Gln1311SerfsTer?)
c.2679_2692del (p.Gln894SerfsTer?)
n.508_521del
c.350_363del
n.126_139del
n.2981_2994del
c.3999_4012del (p.Gln1334SerfsTer?)
c.3627_3640del (p.Gln1210SerfsTer?)
c.3990_4003del (p.Gln1331SerfsTer?)
c.3291_3304del (p.Gln1098SerfsTer?)
c.4038_4051del (p.Gln1347SerfsTer?)
 ClinVar dbSNP
16g.3740476A>CCA493280386CREBBPc.4056T>G (p.Pro1352=)
c.3942T>G (p.Pro1314=)
c.2691T>G (p.Pro897=)
n.520T>G
c.362T>G
n.138T>G
n.2993T>G
c.4011T>G (p.Pro1337=)
c.3639T>G (p.Pro1213=)
c.4002T>G (p.Pro1334=)
c.3303T>G (p.Pro1101=)
c.4050T>G (p.Pro1350=)
 gnomAD v4
16g.3740476A>GCA493280388CREBBPc.4056T>C (p.Pro1352=)
c.3942T>C (p.Pro1314=)
c.2691T>C (p.Pro897=)
n.520T>C
c.362T>C
n.138T>C
n.2993T>C
c.4011T>C (p.Pro1337=)
c.3639T>C (p.Pro1213=)
c.4002T>C (p.Pro1334=)
c.3303T>C (p.Pro1101=)
c.4050T>C (p.Pro1350=)
 dbSNP gnomAD v4
16g.3740476A>TCA493280387CREBBPc.4056T>A (p.Pro1352=)
c.3942T>A (p.Pro1314=)
c.2691T>A (p.Pro897=)
n.520T>A
c.362T>A
n.138T>A
n.2993T>A
c.4011T>A (p.Pro1337=)
c.3639T>A (p.Pro1213=)
c.4002T>A (p.Pro1334=)
c.3303T>A (p.Pro1101=)
c.4050T>A (p.Pro1350=)
 dbSNP
16g.3740477G>ACA394565361CREBBPc.4055C>T (p.Pro1352Leu)
c.3941C>T (p.Pro1314Leu)
c.2690C>T (p.Pro897Leu)
n.519C>T
c.361C>T
n.137C>T
n.2992C>T
c.4010C>T (p.Pro1337Leu)
c.3638C>T (p.Pro1213Leu)
c.4001C>T (p.Pro1334Leu)
c.3302C>T (p.Pro1101Leu)
c.4049C>T (p.Pro1350Leu)
 dbSNP
16g.3740477G>CCA394565362CREBBPc.4055C>G (p.Pro1352Arg)
c.3941C>G (p.Pro1314Arg)
c.2690C>G (p.Pro897Arg)
n.519C>G
c.361C>G
n.137C>G
n.2992C>G
c.4010C>G (p.Pro1337Arg)
c.3638C>G (p.Pro1213Arg)
c.4001C>G (p.Pro1334Arg)
c.3302C>G (p.Pro1101Arg)
c.4049C>G (p.Pro1350Arg)
 dbSNP gnomAD v4
16g.3740477G>TCA394565363CREBBPc.4055C>A (p.Pro1352His)
c.3941C>A (p.Pro1314His)
c.2690C>A (p.Pro897His)
n.519C>A
c.361C>A
n.137C>A
n.2992C>A
c.4010C>A (p.Pro1337His)
c.3638C>A (p.Pro1213His)
c.4001C>A (p.Pro1334His)
c.3302C>A (p.Pro1101His)
c.4049C>A (p.Pro1350His)
 dbSNP gnomAD v4
16g.3740478G>ACA394565364CREBBPc.4054C>T (p.Pro1352Ser)
c.3940C>T (p.Pro1314Ser)
c.2689C>T (p.Pro897Ser)
n.518C>T
c.360C>T
n.136C>T
n.2991C>T
c.4009C>T (p.Pro1337Ser)
c.3637C>T (p.Pro1213Ser)
c.4000C>T (p.Pro1334Ser)
c.3301C>T (p.Pro1101Ser)
c.4048C>T (p.Pro1350Ser)
 dbSNP
16g.3740478G>CCA394565365CREBBPc.4054C>G (p.Pro1352Ala)
c.3940C>G (p.Pro1314Ala)
c.2689C>G (p.Pro897Ala)
n.518C>G
c.360C>G
n.136C>G
n.2991C>G
c.4009C>G (p.Pro1337Ala)
c.3637C>G (p.Pro1213Ala)
c.4000C>G (p.Pro1334Ala)
c.3301C>G (p.Pro1101Ala)
c.4048C>G (p.Pro1350Ala)
 dbSNP
16g.3740478G>TCA394565366CREBBPc.4054C>A (p.Pro1352Thr)
c.3940C>A (p.Pro1314Thr)
c.2689C>A (p.Pro897Thr)
n.518C>A
c.360C>A
n.136C>A
n.2991C>A
c.4009C>A (p.Pro1337Thr)
c.3637C>A (p.Pro1213Thr)
c.4000C>A (p.Pro1334Thr)
c.3301C>A (p.Pro1101Thr)
c.4048C>A (p.Pro1350Thr)
 dbSNP
16g.3740478_3740479insCTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGCA2805633186CREBBPc.4054_4055insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1351_Pro1352insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
c.3940_3941insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1313_Pro1314insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
c.2689_2690insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His896_Pro897insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
n.518_519insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC
c.360_361insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC
n.136_137insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC
n.2991_2992insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC
c.4009_4010insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1336_Pro1337insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
c.3637_3638insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1212_Pro1213insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
c.4000_4001insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1333_Pro1334insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
c.3301_3302insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1100_Pro1101insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
c.4048_4049insGTGTTAGCCAGGTTGGTCTTGATTTCCTGACCTCGAGATCCGCCTGCCTTGGCCTTCCAAAGC (p.His1349_Pro1350insArgValSerGlnValGlyLeuAspPheLeuThrSerArgSerAlaCysLeuGlyLeuProLys)
16g.3740479G>ACA493280389CREBBPc.4053C>T (p.His1351=)
c.3939C>T (p.His1313=)
c.2688C>T (p.His896=)
n.517C>T
c.359C>T
n.135C>T
n.2990C>T
c.4008C>T (p.His1336=)
c.3636C>T (p.His1212=)
c.3999C>T (p.His1333=)
c.3300C>T (p.His1100=)
c.4047C>T (p.His1349=)
 dbSNP gnomAD v4
16g.3740479G>CCA394565367CREBBPc.4053C>G (p.His1351Gln)
c.3939C>G (p.His1313Gln)
c.2688C>G (p.His896Gln)
n.517C>G
c.359C>G
n.135C>G
n.2990C>G
c.4008C>G (p.His1336Gln)
c.3636C>G (p.His1212Gln)
c.3999C>G (p.His1333Gln)
c.3300C>G (p.His1100Gln)
c.4047C>G (p.His1349Gln)
 dbSNP
16g.3740479G>TCA394565368CREBBPc.4053C>A (p.His1351Gln)
c.3939C>A (p.His1313Gln)
c.2688C>A (p.His896Gln)
n.517C>A
c.359C>A
n.135C>A
n.2990C>A
c.4008C>A (p.His1336Gln)
c.3636C>A (p.His1212Gln)
c.3999C>A (p.His1333Gln)
c.3300C>A (p.His1100Gln)
c.4047C>A (p.His1349Gln)
 dbSNP
16g.3740480T>ACA394565369CREBBPc.4052A>T (p.His1351Leu)
c.3938A>T (p.His1313Leu)
c.2687A>T (p.His896Leu)
n.516A>T
c.358A>T
n.134A>T
n.2989A>T
c.4007A>T (p.His1336Leu)
c.3635A>T (p.His1212Leu)
c.3998A>T (p.His1333Leu)
c.3299A>T (p.His1100Leu)
c.4046A>T (p.His1349Leu)
 dbSNP
16g.3740480T>CCA394565370CREBBPc.4052A>G (p.His1351Arg)
c.3938A>G (p.His1313Arg)
c.2687A>G (p.His896Arg)
n.516A>G
c.358A>G
n.134A>G
n.2989A>G
c.4007A>G (p.His1336Arg)
c.3635A>G (p.His1212Arg)
c.3998A>G (p.His1333Arg)
c.3299A>G (p.His1100Arg)
c.4046A>G (p.His1349Arg)
 ClinVar
16g.3740480T>GCA394565371CREBBPc.4052A>C (p.His1351Pro)
c.3938A>C (p.His1313Pro)
c.2687A>C (p.His896Pro)
n.516A>C
c.358A>C
n.134A>C
n.2989A>C
c.4007A>C (p.His1336Pro)
c.3635A>C (p.His1212Pro)
c.3998A>C (p.His1333Pro)
c.3299A>C (p.His1100Pro)
c.4046A>C (p.His1349Pro)
 dbSNP
16g.3740480T=CA2202940875CREBBPc.4052A= (p.His1351=)
c.3938A= (p.His1313=)
c.2687A= (p.His896=)
n.516A=
c.358A=
n.134A=
n.2989A=
c.4007A= (p.His1336=)
c.3635A= (p.His1212=)
c.3998A= (p.His1333=)
c.3299A= (p.His1100=)
c.4046A= (p.His1349=)
16g.3740481delCA493280390CREBBPc.4051del (p.His1351ThrfsTer25)
c.3937del (p.His1313ThrfsTer25)
c.2686del (p.His896ThrfsTer25)
n.515del
c.357del
n.133del
n.2988del
c.4006del (p.His1336ThrfsTer25)
c.3634del (p.His1212ThrfsTer25)
c.3997del (p.His1333ThrfsTer25)
c.3298del (p.His1100ThrfsTer25)
c.4045del (p.His1349ThrfsTer25)
 COSMIC
16g.3740481G>ACA394565372CREBBPc.4051C>T (p.His1351Tyr)
c.3937C>T (p.His1313Tyr)
c.2686C>T (p.His896Tyr)
n.515C>T
c.357C>T
n.133C>T
n.2988C>T
c.4006C>T (p.His1336Tyr)
c.3634C>T (p.His1212Tyr)
c.3997C>T (p.His1333Tyr)
c.3298C>T (p.His1100Tyr)
c.4045C>T (p.His1349Tyr)
 dbSNP
16g.3740481G>CCA394565373CREBBPc.4051C>G (p.His1351Asp)
c.3937C>G (p.His1313Asp)
c.2686C>G (p.His896Asp)
n.515C>G
c.357C>G
n.133C>G
n.2988C>G
c.4006C>G (p.His1336Asp)
c.3634C>G (p.His1212Asp)
c.3997C>G (p.His1333Asp)
c.3298C>G (p.His1100Asp)
c.4045C>G (p.His1349Asp)
 dbSNP
16g.3740481G>TCA394565374CREBBPc.4051C>A (p.His1351Asn)
c.3937C>A (p.His1313Asn)
c.2686C>A (p.His896Asn)
n.515C>A
c.357C>A
n.133C>A
n.2988C>A
c.4006C>A (p.His1336Asn)
c.3634C>A (p.His1212Asn)
c.3997C>A (p.His1333Asn)
c.3298C>A (p.His1100Asn)
c.4045C>A (p.His1349Asn)
16g.3740482A=CA2202940877CREBBPc.4050T= (p.Asn1350=)
c.3936T= (p.Asn1312=)
c.2685T= (p.Asn895=)
n.514T=
c.356T=
n.132T=
n.2987T=
c.4005T= (p.Asn1335=)
c.3633T= (p.Asn1211=)
c.3996T= (p.Asn1332=)
c.3297T= (p.Asn1099=)
c.4044T= (p.Asn1348=)
16g.3740482A>CCA394565375CREBBPc.4050T>G (p.Asn1350Lys)
c.3936T>G (p.Asn1312Lys)
c.2685T>G (p.Asn895Lys)
n.514T>G
c.356T>G
n.132T>G
n.2987T>G
c.4005T>G (p.Asn1335Lys)
c.3633T>G (p.Asn1211Lys)
c.3996T>G (p.Asn1332Lys)
c.3297T>G (p.Asn1099Lys)
c.4044T>G (p.Asn1348Lys)
 dbSNP
16g.3740482A>GCA493280391CREBBPc.4050T>C (p.Asn1350=)
c.3936T>C (p.Asn1312=)
c.2685T>C (p.Asn895=)
n.514T>C
c.356T>C
n.132T>C
n.2987T>C
c.4005T>C (p.Asn1335=)
c.3633T>C (p.Asn1211=)
c.3996T>C (p.Asn1332=)
c.3297T>C (p.Asn1099=)
c.4044T>C (p.Asn1348=)
 dbSNP
16g.3740482A>TCA394565376CREBBPc.4050T>A (p.Asn1350Lys)
c.3936T>A (p.Asn1312Lys)
c.2685T>A (p.Asn895Lys)
n.514T>A
c.356T>A
n.132T>A
n.2987T>A
c.4005T>A (p.Asn1335Lys)
c.3633T>A (p.Asn1211Lys)
c.3996T>A (p.Asn1332Lys)
c.3297T>A (p.Asn1099Lys)
c.4044T>A (p.Asn1348Lys)
 ClinVar dbSNP
16g.3740483T>ACA394565377CREBBPc.4049A>T (p.Asn1350Ile)
c.3935A>T (p.Asn1312Ile)
c.2684A>T (p.Asn895Ile)
n.513A>T
c.355A>T
n.131A>T
n.2986A>T
c.4004A>T (p.Asn1335Ile)
c.3632A>T (p.Asn1211Ile)
c.3995A>T (p.Asn1332Ile)
c.3296A>T (p.Asn1099Ile)
c.4043A>T (p.Asn1348Ile)
 dbSNP
16g.3740483T>CCA394565378CREBBPc.4049A>G (p.Asn1350Ser)
c.3935A>G (p.Asn1312Ser)
c.2684A>G (p.Asn895Ser)
n.513A>G
c.355A>G
n.131A>G
n.2986A>G
c.4004A>G (p.Asn1335Ser)
c.3632A>G (p.Asn1211Ser)
c.3995A>G (p.Asn1332Ser)
c.3296A>G (p.Asn1099Ser)
c.4043A>G (p.Asn1348Ser)
16g.3740483T>GCA394565379CREBBPc.4049A>C (p.Asn1350Thr)
c.3935A>C (p.Asn1312Thr)
c.2684A>C (p.Asn895Thr)
n.513A>C
c.355A>C
n.131A>C
n.2986A>C
c.4004A>C (p.Asn1335Thr)
c.3632A>C (p.Asn1211Thr)
c.3995A>C (p.Asn1332Thr)
c.3296A>C (p.Asn1099Thr)
c.4043A>C (p.Asn1348Thr)
 dbSNP
16g.3740484T>ACA394565382CREBBPc.4048A>T (p.Asn1350Tyr)
c.3934A>T (p.Asn1312Tyr)
c.2683A>T (p.Asn895Tyr)
n.512A>T
c.354A>T
n.130A>T
n.2985A>T
c.4003A>T (p.Asn1335Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3295A>T (p.Asn1099Tyr)
c.4042A>T (p.Asn1348Tyr)
 dbSNP
16g.3740484T>CCA394565381CREBBPc.4048A>G (p.Asn1350Asp)
c.3934A>G (p.Asn1312Asp)
c.2683A>G (p.Asn895Asp)
n.512A>G
c.354A>G
n.130A>G
n.2985A>G
c.4003A>G (p.Asn1335Asp)
c.3631A>G (p.Asn1211Asp)
c.3994A>G (p.Asn1332Asp)
c.3295A>G (p.Asn1099Asp)
c.4042A>G (p.Asn1348Asp)
 dbSNP
16g.3740484T>GCA394565380CREBBPc.4048A>C (p.Asn1350His)
c.3934A>C (p.Asn1312His)
c.2683A>C (p.Asn895His)
n.512A>C
c.354A>C
n.130A>C
n.2985A>C
c.4003A>C (p.Asn1335His)
c.3631A>C (p.Asn1211His)
c.3994A>C (p.Asn1332His)
c.3295A>C (p.Asn1099His)
c.4042A>C (p.Asn1348His)
 dbSNP
16g.3740485C>ACA394565383CREBBPc.4047G>T (p.Gln1349His)
c.3933G>T (p.Gln1311His)
c.2682G>T (p.Gln894His)
n.511G>T
c.353G>T
n.129G>T
n.2984G>T
c.4002G>T (p.Gln1334His)
c.3630G>T (p.Gln1210His)
c.3993G>T (p.Gln1331His)
c.3294G>T (p.Gln1098His)
c.4041G>T (p.Gln1347His)
 dbSNP
16g.3740485C>GCA394565384CREBBPc.4047G>C (p.Gln1349His)
c.3933G>C (p.Gln1311His)
c.2682G>C (p.Gln894His)
n.511G>C
c.353G>C
n.129G>C
n.2984G>C
c.4002G>C (p.Gln1334His)
c.3630G>C (p.Gln1210His)
c.3993G>C (p.Gln1331His)
c.3294G>C (p.Gln1098His)
c.4041G>C (p.Gln1347His)
 dbSNP gnomAD v4
16g.3740485C>TCA493280392CREBBPc.4047G>A (p.Gln1349=)
c.3933G>A (p.Gln1311=)
c.2682G>A (p.Gln894=)
n.511G>A
c.353G>A
n.129G>A
n.2984G>A
c.4002G>A (p.Gln1334=)
c.3630G>A (p.Gln1210=)
c.3993G>A (p.Gln1331=)
c.3294G>A (p.Gln1098=)
c.4041G>A (p.Gln1347=)
 dbSNP
16g.3740486T>ACA394565385CREBBPc.4046A>T (p.Gln1349Leu)
c.3932A>T (p.Gln1311Leu)
c.2681A>T (p.Gln894Leu)
n.510A>T
c.352A>T
n.128A>T
n.2983A>T
c.4001A>T (p.Gln1334Leu)
c.3629A>T (p.Gln1210Leu)
c.3992A>T (p.Gln1331Leu)
c.3293A>T (p.Gln1098Leu)
c.4040A>T (p.Gln1347Leu)
16g.3740486T>CCA394565387CREBBPc.4046A>G (p.Gln1349Arg)
c.3932A>G (p.Gln1311Arg)
c.2681A>G (p.Gln894Arg)
n.510A>G
c.352A>G
n.128A>G
n.2983A>G
c.4001A>G (p.Gln1334Arg)
c.3629A>G (p.Gln1210Arg)
c.3992A>G (p.Gln1331Arg)
c.3293A>G (p.Gln1098Arg)
c.4040A>G (p.Gln1347Arg)
16g.3740486T>GCA394565386CREBBPc.4046A>C (p.Gln1349Pro)
c.3932A>C (p.Gln1311Pro)
c.2681A>C (p.Gln894Pro)
n.510A>C
c.352A>C
n.128A>C
n.2983A>C
c.4001A>C (p.Gln1334Pro)
c.3629A>C (p.Gln1210Pro)
c.3992A>C (p.Gln1331Pro)
c.3293A>C (p.Gln1098Pro)
c.4040A>C (p.Gln1347Pro)
16g.3740487G>ACA271403CREBBPc.4045C>T (p.Gln1349Ter)
c.3931C>T (p.Gln1311Ter)
c.2680C>T (p.Gln894Ter)
n.509C>T
c.351C>T
n.127C>T
n.2982C>T
c.4000C>T (p.Gln1334Ter)
c.3628C>T (p.Gln1210Ter)
c.3991C>T (p.Gln1331Ter)
c.3292C>T (p.Gln1098Ter)
c.4039C>T (p.Gln1347Ter)
 ClinVar dbSNP
16g.3740487G>CCA394565388CREBBPc.4045C>G (p.Gln1349Glu)
c.3931C>G (p.Gln1311Glu)
c.2680C>G (p.Gln894Glu)
n.509C>G
c.351C>G
n.127C>G
n.2982C>G
c.4000C>G (p.Gln1334Glu)
c.3628C>G (p.Gln1210Glu)
c.3991C>G (p.Gln1331Glu)
c.3292C>G (p.Gln1098Glu)
c.4039C>G (p.Gln1347Glu)
 dbSNP
16g.3740487G=CA2202940883CREBBPc.4045C= (p.Gln1349=)
c.3931C= (p.Gln1311=)
c.2680C= (p.Gln894=)
n.509C=
c.351C=
n.127C=
n.2982C=
c.4000C= (p.Gln1334=)
c.3628C= (p.Gln1210=)
c.3991C= (p.Gln1331=)
c.3292C= (p.Gln1098=)
c.4039C= (p.Gln1347=)
16g.3740487G>TCA394565389CREBBPc.4045C>A (p.Gln1349Lys)
c.3931C>A (p.Gln1311Lys)
c.2680C>A (p.Gln894Lys)
n.509C>A
c.351C>A
n.127C>A
n.2982C>A
c.4000C>A (p.Gln1334Lys)
c.3628C>A (p.Gln1210Lys)
c.3991C>A (p.Gln1331Lys)
c.3292C>A (p.Gln1098Lys)
c.4039C>A (p.Gln1347Lys)
 dbSNP
16g.3740488G>ACA493280393CREBBPc.4044C>T (p.Arg1348=)
c.3930C>T (p.Arg1310=)
c.2679C>T (p.Arg893=)
n.508C>T
c.350C>T
n.126C>T
n.2981C>T
c.3999C>T (p.Arg1333=)
c.3627C>T (p.Arg1209=)
c.3990C>T (p.Arg1330=)
c.3291C>T (p.Arg1097=)
c.4038C>T (p.Arg1346=)
 gnomAD v4
16g.3740488G>CCA493280394CREBBPc.4044C>G (p.Arg1348=)
c.3930C>G (p.Arg1310=)
c.2679C>G (p.Arg893=)
n.508C>G
c.350C>G
n.126C>G
n.2981C>G
c.3999C>G (p.Arg1333=)
c.3627C>G (p.Arg1209=)
c.3990C>G (p.Arg1330=)
c.3291C>G (p.Arg1097=)
c.4038C>G (p.Arg1346=)
 gnomAD v4
16g.3740488G>TCA493280395CREBBPc.4044C>A (p.Arg1348=)
c.3930C>A (p.Arg1310=)
c.2679C>A (p.Arg893=)
n.508C>A
c.350C>A
n.126C>A
n.2981C>A
c.3999C>A (p.Arg1333=)
c.3627C>A (p.Arg1209=)
c.3990C>A (p.Arg1330=)
c.3291C>A (p.Arg1097=)
c.4038C>A (p.Arg1346=)
 dbSNP
16g.3740489C>ACA394565390CREBBPc.4043G>T (p.Arg1348Leu)
c.3929G>T (p.Arg1310Leu)
c.2678G>T (p.Arg893Leu)
n.507G>T
c.349G>T
n.125G>T
n.2980G>T
c.3998G>T (p.Arg1333Leu)
c.3626G>T (p.Arg1209Leu)
c.3989G>T (p.Arg1330Leu)
c.3290G>T (p.Arg1097Leu)
c.4037G>T (p.Arg1346Leu)
 dbSNP gnomAD v4
16g.3740489C=CA2202940885CREBBPc.4043G= (p.Arg1348=)
c.3929G= (p.Arg1310=)
c.2678G= (p.Arg893=)
n.507G=
c.349G=
n.125G=
n.2980G=
c.3998G= (p.Arg1333=)
c.3626G= (p.Arg1209=)
c.3989G= (p.Arg1330=)
c.3290G= (p.Arg1097=)
c.4037G= (p.Arg1346=)
16g.3740489C>GCA394565391CREBBPc.4043G>C (p.Arg1348Pro)
c.3929G>C (p.Arg1310Pro)
c.2678G>C (p.Arg893Pro)
n.507G>C
c.349G>C
n.125G>C
n.2980G>C
c.3998G>C (p.Arg1333Pro)
c.3626G>C (p.Arg1209Pro)
c.3989G>C (p.Arg1330Pro)
c.3290G>C (p.Arg1097Pro)
c.4037G>C (p.Arg1346Pro)
 dbSNP
16g.3740489C>TCA394565392CREBBPc.4043G>A (p.Arg1348His)
c.3929G>A (p.Arg1310His)
c.2678G>A (p.Arg893His)
n.507G>A
c.349G>A
n.125G>A
n.2980G>A
c.3998G>A (p.Arg1333His)
c.3626G>A (p.Arg1209His)
c.3989G>A (p.Arg1330His)
c.3290G>A (p.Arg1097His)
c.4037G>A (p.Arg1346His)
 ClinVar dbSNP gnomAD v2
16g.3740490G>ACA394565393CREBBPc.4042C>T (p.Arg1348Cys)
c.3928C>T (p.Arg1310Cys)
c.2677C>T (p.Arg893Cys)
n.506C>T
c.348C>T
n.124C>T
n.2979C>T
c.3997C>T (p.Arg1333Cys)
c.3625C>T (p.Arg1209Cys)
c.3988C>T (p.Arg1330Cys)
c.3289C>T (p.Arg1097Cys)
c.4036C>T (p.Arg1346Cys)
 dbSNP
16g.3740490G>CCA394565394CREBBPc.4042C>G (p.Arg1348Gly)
c.3928C>G (p.Arg1310Gly)
c.2677C>G (p.Arg893Gly)
n.506C>G
c.348C>G
n.124C>G
n.2979C>G
c.3997C>G (p.Arg1333Gly)
c.3625C>G (p.Arg1209Gly)
c.3988C>G (p.Arg1330Gly)
c.3289C>G (p.Arg1097Gly)
c.4036C>G (p.Arg1346Gly)
 dbSNP
16g.3740490G=CA2202940887CREBBPc.4042C= (p.Arg1348=)
c.3928C= (p.Arg1310=)
c.2677C= (p.Arg893=)
n.506C=
c.348C=
n.124C=
n.2979C=
c.3997C= (p.Arg1333=)
c.3625C= (p.Arg1209=)
c.3988C= (p.Arg1330=)
c.3289C= (p.Arg1097=)
c.4036C= (p.Arg1346=)
16g.3740490G>TCA394565395CREBBPc.4042C>A (p.Arg1348Ser)
c.3928C>A (p.Arg1310Ser)
c.2677C>A (p.Arg893Ser)
n.506C>A
c.348C>A
n.124C>A
n.2979C>A
c.3997C>A (p.Arg1333Ser)
c.3625C>A (p.Arg1209Ser)
c.3988C>A (p.Arg1330Ser)
c.3289C>A (p.Arg1097Ser)
c.4036C>A (p.Arg1346Ser)
 dbSNP
16g.3740491C>ACA493280396CREBBPc.4041G>T (p.Arg1347=)
c.3927G>T (p.Arg1309=)
c.2676G>T (p.Arg892=)
n.505G>T
c.347G>T
n.123G>T
n.2978G>T
c.3996G>T (p.Arg1332=)
c.3624G>T (p.Arg1208=)
c.3987G>T (p.Arg1329=)
c.3288G>T (p.Arg1096=)
c.4035G>T (p.Arg1345=)
 dbSNP
16g.3740491C=CA2202940889CREBBPc.4041G= (p.Arg1347=)
c.3927G= (p.Arg1309=)
c.2676G= (p.Arg892=)
n.505G=
c.347G=
n.123G=
n.2978G=
c.3996G= (p.Arg1332=)
c.3624G= (p.Arg1208=)
c.3987G= (p.Arg1329=)
c.3288G= (p.Arg1096=)
c.4035G= (p.Arg1345=)
16g.3740491C>GCA493280397CREBBPc.4041G>C (p.Arg1347=)
c.3927G>C (p.Arg1309=)
c.2676G>C (p.Arg892=)
n.505G>C
c.347G>C
n.123G>C
n.2978G>C
c.3996G>C (p.Arg1332=)
c.3624G>C (p.Arg1208=)
c.3987G>C (p.Arg1329=)
c.3288G>C (p.Arg1096=)
c.4035G>C (p.Arg1345=)
 dbSNP
16g.3740491C>TCA493280398CREBBPc.4041G>A (p.Arg1347=)
c.3927G>A (p.Arg1309=)
c.2676G>A (p.Arg892=)
n.505G>A
c.347G>A
n.123G>A
n.2978G>A
c.3996G>A (p.Arg1332=)
c.3624G>A (p.Arg1208=)
c.3987G>A (p.Arg1329=)
c.3288G>A (p.Arg1096=)
c.4035G>A (p.Arg1345=)
 dbSNP
16g.3740492C>ACA394565396CREBBPc.4040G>T (p.Arg1347Leu)
c.3926G>T (p.Arg1309Leu)
c.2675G>T (p.Arg892Leu)
n.504G>T
c.346G>T
n.122G>T
n.2977G>T
c.3995G>T (p.Arg1332Leu)
c.3623G>T (p.Arg1208Leu)
c.3986G>T (p.Arg1329Leu)
c.3287G>T (p.Arg1096Leu)
c.4034G>T (p.Arg1345Leu)
 dbSNP
16g.3740492C=CA2202940893CREBBPc.4040G= (p.Arg1347=)
c.3926G= (p.Arg1309=)
c.2675G= (p.Arg892=)
n.504G=
c.346G=
n.122G=
n.2977G=
c.3995G= (p.Arg1332=)
c.3623G= (p.Arg1208=)
c.3986G= (p.Arg1329=)
c.3287G= (p.Arg1096=)
c.4034G= (p.Arg1345=)
16g.3740492C>GCA394565397CREBBPc.4040G>C (p.Arg1347Pro)
c.3926G>C (p.Arg1309Pro)
c.2675G>C (p.Arg892Pro)
n.504G>C
c.346G>C
n.122G>C
n.2977G>C
c.3995G>C (p.Arg1332Pro)
c.3623G>C (p.Arg1208Pro)
c.3986G>C (p.Arg1329Pro)
c.3287G>C (p.Arg1096Pro)
c.4034G>C (p.Arg1345Pro)
 ClinVar dbSNP
16g.3740492C>TCA394565398CREBBPc.4040G>A (p.Arg1347Gln)
c.3926G>A (p.Arg1309Gln)
c.2675G>A (p.Arg892Gln)
n.504G>A
c.346G>A
n.122G>A
n.2977G>A
c.3995G>A (p.Arg1332Gln)
c.3623G>A (p.Arg1208Gln)
c.3986G>A (p.Arg1329Gln)
c.3287G>A (p.Arg1096Gln)
c.4034G>A (p.Arg1345Gln)
 dbSNP gnomAD v4
16g.3740493G>ACA276983219CREBBPc.4039C>T (p.Arg1347Trp)
c.3925C>T (p.Arg1309Trp)
c.2674C>T (p.Arg892Trp)
n.503C>T
c.345C>T
n.121C>T
n.2976C>T
c.3994C>T (p.Arg1332Trp)
c.3622C>T (p.Arg1208Trp)
c.3985C>T (p.Arg1329Trp)
c.3286C>T (p.Arg1096Trp)
c.4033C>T (p.Arg1345Trp)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3740493G>CCA394565399CREBBPc.4039C>G (p.Arg1347Gly)
c.3925C>G (p.Arg1309Gly)
c.2674C>G (p.Arg892Gly)
n.503C>G
c.345C>G
n.121C>G
n.2976C>G
c.3994C>G (p.Arg1332Gly)
c.3622C>G (p.Arg1208Gly)
c.3985C>G (p.Arg1329Gly)
c.3286C>G (p.Arg1096Gly)
c.4033C>G (p.Arg1345Gly)
 dbSNP
16g.3740493G=CA2202940897CREBBPc.4039C= (p.Arg1347=)
c.3925C= (p.Arg1309=)
c.2674C= (p.Arg892=)
n.503C=
c.345C=
n.121C=
n.2976C=
c.3994C= (p.Arg1332=)
c.3622C= (p.Arg1208=)
c.3985C= (p.Arg1329=)
c.3286C= (p.Arg1096=)
c.4033C= (p.Arg1345=)
16g.3740493G>TCA493280399CREBBPc.4039C>A (p.Arg1347=)
c.3925C>A (p.Arg1309=)
c.2674C>A (p.Arg892=)
n.503C>A
c.345C>A
n.121C>A
n.2976C>A
c.3994C>A (p.Arg1332=)
c.3622C>A (p.Arg1208=)
c.3985C>A (p.Arg1329=)
c.3286C>A (p.Arg1096=)
c.4033C>A (p.Arg1345=)
 gnomAD v4
16g.3740494C>ACA394565400CREBBPc.4038G>T (p.Leu1346Phe)
c.3924G>T (p.Leu1308Phe)
c.2673G>T (p.Leu891Phe)
n.502G>T
c.344G>T
n.120G>T
n.2975G>T
c.3993G>T (p.Leu1331Phe)
c.3621G>T (p.Leu1207Phe)
c.3984G>T (p.Leu1328Phe)
c.3285G>T (p.Leu1095Phe)
c.4032G>T (p.Leu1344Phe)
16g.3740494C>GCA394565401CREBBPc.4038G>C (p.Leu1346Phe)
c.3924G>C (p.Leu1308Phe)
c.2673G>C (p.Leu891Phe)
n.502G>C
c.344G>C
n.120G>C
n.2975G>C
c.3993G>C (p.Leu1331Phe)
c.3621G>C (p.Leu1207Phe)
c.3984G>C (p.Leu1328Phe)
c.3285G>C (p.Leu1095Phe)
c.4032G>C (p.Leu1344Phe)
16g.3740494C>TCA493280400CREBBPc.4038G>A (p.Leu1346=)
c.3924G>A (p.Leu1308=)
c.2673G>A (p.Leu891=)
n.502G>A
c.344G>A
n.120G>A
n.2975G>A
c.3993G>A (p.Leu1331=)
c.3621G>A (p.Leu1207=)
c.3984G>A (p.Leu1328=)
c.3285G>A (p.Leu1095=)
c.4032G>A (p.Leu1344=)
 gnomAD v4
16g.3740495A>CCA394565402CREBBPc.4037T>G (p.Leu1346Trp)
c.3923T>G (p.Leu1308Trp)
c.2672T>G (p.Leu891Trp)
n.501T>G
c.343T>G
n.119T>G
n.2974T>G
c.3992T>G (p.Leu1331Trp)
c.3620T>G (p.Leu1207Trp)
c.3983T>G (p.Leu1328Trp)
c.3284T>G (p.Leu1095Trp)
c.4031T>G (p.Leu1344Trp)
 dbSNP
16g.3740495A>GCA394565403CREBBPc.4037T>C (p.Leu1346Ser)
c.3923T>C (p.Leu1308Ser)
c.2672T>C (p.Leu891Ser)
n.501T>C
c.343T>C
n.119T>C
n.2974T>C
c.3992T>C (p.Leu1331Ser)
c.3620T>C (p.Leu1207Ser)
c.3983T>C (p.Leu1328Ser)
c.3284T>C (p.Leu1095Ser)
c.4031T>C (p.Leu1344Ser)
16g.3740495A>TCA394565404CREBBPc.4037T>A (p.Leu1346Ter)
c.3923T>A (p.Leu1308Ter)
c.2672T>A (p.Leu891Ter)
n.501T>A
c.343T>A
n.119T>A
n.2974T>A
c.3992T>A (p.Leu1331Ter)
c.3620T>A (p.Leu1207Ter)
c.3983T>A (p.Leu1328Ter)
c.3284T>A (p.Leu1095Ter)
c.4031T>A (p.Leu1344Ter)
 dbSNP
16g.3740496A=CA2202940900CREBBPc.4036T= (p.Leu1346=)
c.3922T= (p.Leu1308=)
c.2671T= (p.Leu891=)
n.500T=
c.342T=
n.118T=
n.2973T=
c.3991T= (p.Leu1331=)
c.3619T= (p.Leu1207=)
c.3982T= (p.Leu1328=)
c.3283T= (p.Leu1095=)
c.4030T= (p.Leu1344=)
16g.3740496A>CCA394565405CREBBPc.4036T>G (p.Leu1346Val)
c.3922T>G (p.Leu1308Val)
c.2671T>G (p.Leu891Val)
n.500T>G
c.342T>G
n.118T>G
n.2973T>G
c.3991T>G (p.Leu1331Val)
c.3619T>G (p.Leu1207Val)
c.3982T>G (p.Leu1328Val)
c.3283T>G (p.Leu1095Val)
c.4030T>G (p.Leu1344Val)
16g.3740496A>GCA7869628CREBBPc.4036T>C (p.Leu1346=)
c.3922T>C (p.Leu1308=)
c.2671T>C (p.Leu891=)
n.500T>C
c.342T>C
n.118T>C
n.2973T>C
c.3991T>C (p.Leu1331=)
c.3619T>C (p.Leu1207=)
c.3982T>C (p.Leu1328=)
c.3283T>C (p.Leu1095=)
c.4030T>C (p.Leu1344=)
 dbSNP ExAC gnomAD v2
16g.3740496A>TCA394565406CREBBPc.4036T>A (p.Leu1346Met)
c.3922T>A (p.Leu1308Met)
c.2671T>A (p.Leu891Met)
n.500T>A
c.342T>A
n.118T>A
n.2973T>A
c.3991T>A (p.Leu1331Met)
c.3619T>A (p.Leu1207Met)
c.3982T>A (p.Leu1328Met)
c.3283T>A (p.Leu1095Met)
c.4030T>A (p.Leu1344Met)
 dbSNP
16g.3740497A>CCA394565407CREBBPc.4035T>G (p.Phe1345Leu)
c.3921T>G (p.Phe1307Leu)
c.2670T>G (p.Phe890Leu)
n.499T>G
c.341T>G
n.117T>G
n.2972T>G
c.3990T>G (p.Phe1330Leu)
c.3618T>G (p.Phe1206Leu)
c.3981T>G (p.Phe1327Leu)
c.3282T>G (p.Phe1094Leu)
c.4029T>G (p.Phe1343Leu)
16g.3740497A>GCA493280401CREBBPc.4035T>C (p.Phe1345=)
c.3921T>C (p.Phe1307=)
c.2670T>C (p.Phe890=)
n.499T>C
c.341T>C
n.117T>C
n.2972T>C
c.3990T>C (p.Phe1330=)
c.3618T>C (p.Phe1206=)
c.3981T>C (p.Phe1327=)
c.3282T>C (p.Phe1094=)
c.4029T>C (p.Phe1343=)
 dbSNP gnomAD v4
16g.3740497A>TCA394565408CREBBPc.4035T>A (p.Phe1345Leu)
c.3921T>A (p.Phe1307Leu)
c.2670T>A (p.Phe890Leu)
n.499T>A
c.341T>A
n.117T>A
n.2972T>A
c.3990T>A (p.Phe1330Leu)
c.3618T>A (p.Phe1206Leu)
c.3981T>A (p.Phe1327Leu)
c.3282T>A (p.Phe1094Leu)
c.4029T>A (p.Phe1343Leu)
 dbSNP
16g.3740498A>CCA394565409CREBBPc.4034T>G (p.Phe1345Cys)
c.3920T>G (p.Phe1307Cys)
c.2669T>G (p.Phe890Cys)
n.498T>G
c.340T>G
n.116T>G
n.2971T>G
c.3989T>G (p.Phe1330Cys)
c.3617T>G (p.Phe1206Cys)
c.3980T>G (p.Phe1327Cys)
c.3281T>G (p.Phe1094Cys)
c.4028T>G (p.Phe1343Cys)
 dbSNP COSMIC
16g.3740498A>GCA394565410CREBBPc.4034T>C (p.Phe1345Ser)
c.3920T>C (p.Phe1307Ser)
c.2669T>C (p.Phe890Ser)
n.498T>C
c.340T>C
n.116T>C
n.2971T>C
c.3989T>C (p.Phe1330Ser)
c.3617T>C (p.Phe1206Ser)
c.3980T>C (p.Phe1327Ser)
c.3281T>C (p.Phe1094Ser)
c.4028T>C (p.Phe1343Ser)
16g.3740498A>TCA394565411CREBBPc.4034T>A (p.Phe1345Tyr)
c.3920T>A (p.Phe1307Tyr)
c.2669T>A (p.Phe890Tyr)
n.498T>A
c.340T>A
n.116T>A
n.2971T>A
c.3989T>A (p.Phe1330Tyr)
c.3617T>A (p.Phe1206Tyr)
c.3980T>A (p.Phe1327Tyr)
c.3281T>A (p.Phe1094Tyr)
c.4028T>A (p.Phe1343Tyr)
 dbSNP
16g.3740499A>CCA394565412CREBBPc.4033T>G (p.Phe1345Val)
c.3919T>G (p.Phe1307Val)
c.2668T>G (p.Phe890Val)
n.497T>G
c.339T>G
n.115T>G
n.2970T>G
c.3988T>G (p.Phe1330Val)
c.3616T>G (p.Phe1206Val)
c.3979T>G (p.Phe1327Val)
c.3280T>G (p.Phe1094Val)
c.4027T>G (p.Phe1343Val)
 dbSNP
16g.3740499A>GCA394565414CREBBPc.4033T>C (p.Phe1345Leu)
c.3919T>C (p.Phe1307Leu)
c.2668T>C (p.Phe890Leu)
n.497T>C
c.339T>C
n.115T>C
n.2970T>C
c.3988T>C (p.Phe1330Leu)
c.3616T>C (p.Phe1206Leu)
c.3979T>C (p.Phe1327Leu)
c.3280T>C (p.Phe1094Leu)
c.4027T>C (p.Phe1343Leu)
 dbSNP
16g.3740499A>TCA394565413CREBBPc.4033T>A (p.Phe1345Ile)
c.3919T>A (p.Phe1307Ile)
c.2668T>A (p.Phe890Ile)
n.497T>A
c.339T>A
n.115T>A
n.2970T>A
c.3988T>A (p.Phe1330Ile)
c.3616T>A (p.Phe1206Ile)
c.3979T>A (p.Phe1327Ile)
c.3280T>A (p.Phe1094Ile)
c.4027T>A (p.Phe1343Ile)
 dbSNP
16g.3740500T>ACA394565415CREBBPc.4032A>T (p.Lys1344Asn)
c.3918A>T (p.Lys1306Asn)
c.2667A>T (p.Lys889Asn)
n.496A>T
c.338A>T
n.114A>T
n.2969A>T
c.3987A>T (p.Lys1329Asn)
c.3615A>T (p.Lys1205Asn)
c.3978A>T (p.Lys1326Asn)
c.3279A>T (p.Lys1093Asn)
c.4026A>T (p.Lys1342Asn)
 dbSNP
16g.3740500T>CCA493280402CREBBPc.4032A>G (p.Lys1344=)
c.3918A>G (p.Lys1306=)
c.2667A>G (p.Lys889=)
n.496A>G
c.338A>G
n.114A>G
n.2969A>G
c.3987A>G (p.Lys1329=)
c.3615A>G (p.Lys1205=)
c.3978A>G (p.Lys1326=)
c.3279A>G (p.Lys1093=)
c.4026A>G (p.Lys1342=)
16g.3740500T>GCA394565416CREBBPc.4032A>C (p.Lys1344Asn)
c.3918A>C (p.Lys1306Asn)
c.2667A>C (p.Lys889Asn)
n.496A>C
c.338A>C
n.114A>C
n.2969A>C
c.3987A>C (p.Lys1329Asn)
c.3615A>C (p.Lys1205Asn)
c.3978A>C (p.Lys1326Asn)
c.3279A>C (p.Lys1093Asn)
c.4026A>C (p.Lys1342Asn)
 dbSNP
16g.3740501T>ACA394565417CREBBPc.4031A>T (p.Lys1344Ile)
c.3917A>T (p.Lys1306Ile)
c.2666A>T (p.Lys889Ile)
n.495A>T
c.337A>T
n.113A>T
n.2968A>T
c.3986A>T (p.Lys1329Ile)
c.3614A>T (p.Lys1205Ile)
c.3977A>T (p.Lys1326Ile)
c.3278A>T (p.Lys1093Ile)
c.4025A>T (p.Lys1342Ile)
16g.3740501T>CCA394565418CREBBPc.4031A>G (p.Lys1344Arg)
c.3917A>G (p.Lys1306Arg)
c.2666A>G (p.Lys889Arg)
n.495A>G
c.337A>G
n.113A>G
n.2968A>G
c.3986A>G (p.Lys1329Arg)
c.3614A>G (p.Lys1205Arg)
c.3977A>G (p.Lys1326Arg)
c.3278A>G (p.Lys1093Arg)
c.4025A>G (p.Lys1342Arg)
16g.3740501T>GCA394565419CREBBPc.4031A>C (p.Lys1344Thr)
c.3917A>C (p.Lys1306Thr)
c.2666A>C (p.Lys889Thr)
n.495A>C
c.337A>C
n.113A>C
n.2968A>C
c.3986A>C (p.Lys1329Thr)
c.3614A>C (p.Lys1205Thr)
c.3977A>C (p.Lys1326Thr)
c.3278A>C (p.Lys1093Thr)
c.4025A>C (p.Lys1342Thr)
16g.3740502T>ACA394565420CREBBPc.4030A>T (p.Lys1344Ter)
c.3916A>T (p.Lys1306Ter)
c.2665A>T (p.Lys889Ter)
n.494A>T
c.336A>T
n.112A>T
n.2967A>T
c.3985A>T (p.Lys1329Ter)
c.3613A>T (p.Lys1205Ter)
c.3976A>T (p.Lys1326Ter)
c.3277A>T (p.Lys1093Ter)
c.4024A>T (p.Lys1342Ter)
 dbSNP
16g.3740502T>CCA394565421CREBBPc.4030A>G (p.Lys1344Glu)
c.3916A>G (p.Lys1306Glu)
c.2665A>G (p.Lys889Glu)
n.494A>G
c.336A>G
n.112A>G
n.2967A>G
c.3985A>G (p.Lys1329Glu)
c.3613A>G (p.Lys1205Glu)
c.3976A>G (p.Lys1326Glu)
c.3277A>G (p.Lys1093Glu)
c.4024A>G (p.Lys1342Glu)
16g.3740502T>GCA394565422CREBBPc.4030A>C (p.Lys1344Gln)
c.3916A>C (p.Lys1306Gln)
c.2665A>C (p.Lys889Gln)
n.494A>C
c.336A>C
n.112A>C
n.2967A>C
c.3985A>C (p.Lys1329Gln)
c.3613A>C (p.Lys1205Gln)
c.3976A>C (p.Lys1326Gln)
c.3277A>C (p.Lys1093Gln)
c.4024A>C (p.Lys1342Gln)
 dbSNP
16g.3740503G>ACA493280407CREBBPc.4029C>T (p.Asn1343=)
c.3915C>T (p.Asn1305=)
c.2664C>T (p.Asn888=)
n.493C>T
c.335C>T
n.111C>T
n.2966C>T
c.3984C>T (p.Asn1328=)
c.3612C>T (p.Asn1204=)
c.3975C>T (p.Asn1325=)
c.3276C>T (p.Asn1092=)
c.4023C>T (p.Asn1341=)
 dbSNP gnomAD v4
16g.3740503G>CCA394565423CREBBPc.4029C>G (p.Asn1343Lys)
c.3915C>G (p.Asn1305Lys)
c.2664C>G (p.Asn888Lys)
n.493C>G
c.335C>G
n.111C>G
n.2966C>G
c.3984C>G (p.Asn1328Lys)
c.3612C>G (p.Asn1204Lys)
c.3975C>G (p.Asn1325Lys)
c.3276C>G (p.Asn1092Lys)
c.4023C>G (p.Asn1341Lys)
 dbSNP
16g.3740503G>TCA394565424CREBBPc.4029C>A (p.Asn1343Lys)
c.3915C>A (p.Asn1305Lys)
c.2664C>A (p.Asn888Lys)
n.493C>A
c.335C>A
n.111C>A
n.2966C>A
c.3984C>A (p.Asn1328Lys)
c.3612C>A (p.Asn1204Lys)
c.3975C>A (p.Asn1325Lys)
c.3276C>A (p.Asn1092Lys)
c.4023C>A (p.Asn1341Lys)
 dbSNP
16g.3740504T>ACA394565425CREBBPc.4028A>T (p.Asn1343Ile)
c.3914A>T (p.Asn1305Ile)
c.2663A>T (p.Asn888Ile)
n.492A>T
c.334A>T
n.110A>T
n.2965A>T
c.3983A>T (p.Asn1328Ile)
c.3611A>T (p.Asn1204Ile)
c.3974A>T (p.Asn1325Ile)
c.3275A>T (p.Asn1092Ile)
c.4022A>T (p.Asn1341Ile)
 dbSNP
16g.3740504T>CCA394565426CREBBPc.4028A>G (p.Asn1343Ser)
c.3914A>G (p.Asn1305Ser)
c.2663A>G (p.Asn888Ser)
n.492A>G
c.334A>G
n.110A>G
n.2965A>G
c.3983A>G (p.Asn1328Ser)
c.3611A>G (p.Asn1204Ser)
c.3974A>G (p.Asn1325Ser)
c.3275A>G (p.Asn1092Ser)
c.4022A>G (p.Asn1341Ser)
 dbSNP gnomAD v4
16g.3740504T>GCA394565427CREBBPc.4028A>C (p.Asn1343Thr)
c.3914A>C (p.Asn1305Thr)
c.2663A>C (p.Asn888Thr)
n.492A>C
c.334A>C
n.110A>C
n.2965A>C
c.3983A>C (p.Asn1328Thr)
c.3611A>C (p.Asn1204Thr)
c.3974A>C (p.Asn1325Thr)
c.3275A>C (p.Asn1092Thr)
c.4022A>C (p.Asn1341Thr)
 dbSNP
16g.3740505T>ACA394565428CREBBPc.4027A>T (p.Asn1343Tyr)
c.3913A>T (p.Asn1305Tyr)
c.2662A>T (p.Asn888Tyr)
n.491A>T
c.333A>T
n.109A>T
n.2964A>T
c.3982A>T (p.Asn1328Tyr)
c.3610A>T (p.Asn1204Tyr)
c.3973A>T (p.Asn1325Tyr)
c.3274A>T (p.Asn1092Tyr)
c.4021A>T (p.Asn1341Tyr)
 dbSNP
16g.3740505T>CCA394565430CREBBPc.4027A>G (p.Asn1343Asp)
c.3913A>G (p.Asn1305Asp)
c.2662A>G (p.Asn888Asp)
n.491A>G
c.333A>G
n.109A>G
n.2964A>G
c.3982A>G (p.Asn1328Asp)
c.3610A>G (p.Asn1204Asp)
c.3973A>G (p.Asn1325Asp)
c.3274A>G (p.Asn1092Asp)
c.4021A>G (p.Asn1341Asp)
 dbSNP
16g.3740505T>GCA394565429CREBBPc.4027A>C (p.Asn1343His)
c.3913A>C (p.Asn1305His)
c.2662A>C (p.Asn888His)
n.491A>C
c.333A>C
n.109A>C
n.2964A>C
c.3982A>C (p.Asn1328His)
c.3610A>C (p.Asn1204His)
c.3973A>C (p.Asn1325His)
c.3274A>C (p.Asn1092His)
c.4021A>C (p.Asn1341His)
16g.3740506C>ACA493280416CREBBPc.4026G>T (p.Val1342=)
c.3912G>T (p.Val1304=)
c.2661G>T (p.Val887=)
n.490G>T
c.332G>T
n.108G>T
n.2963G>T
c.3981G>T (p.Val1327=)
c.3609G>T (p.Val1203=)
c.3972G>T (p.Val1324=)
c.3273G>T (p.Val1091=)
c.4020G>T (p.Val1340=)
 dbSNP
16g.3740506C>GCA493280419CREBBPc.4026G>C (p.Val1342=)
c.3912G>C (p.Val1304=)
c.2661G>C (p.Val887=)
n.490G>C
c.332G>C
n.108G>C
n.2963G>C
c.3981G>C (p.Val1327=)
c.3609G>C (p.Val1203=)
c.3972G>C (p.Val1324=)
c.3273G>C (p.Val1091=)
c.4020G>C (p.Val1340=)
 dbSNP
16g.3740506C>TCA493280417CREBBPc.4026G>A (p.Val1342=)
c.3912G>A (p.Val1304=)
c.2661G>A (p.Val887=)
n.490G>A
c.332G>A
n.108G>A
n.2963G>A
c.3981G>A (p.Val1327=)
c.3609G>A (p.Val1203=)
c.3972G>A (p.Val1324=)
c.3273G>A (p.Val1091=)
c.4020G>A (p.Val1340=)
 dbSNP
16g.3740507A>CCA394565431CREBBPc.4025T>G (p.Val1342Gly)
c.3911T>G (p.Val1304Gly)
c.2660T>G (p.Val887Gly)
n.489T>G
c.331T>G
n.107T>G
n.2962T>G
c.3980T>G (p.Val1327Gly)
c.3608T>G (p.Val1203Gly)
c.3971T>G (p.Val1324Gly)
c.3272T>G (p.Val1091Gly)
c.4019T>G (p.Val1340Gly)
 dbSNP
16g.3740507A>GCA394565432CREBBPc.4025T>C (p.Val1342Ala)
c.3911T>C (p.Val1304Ala)
c.2660T>C (p.Val887Ala)
n.489T>C
c.331T>C
n.107T>C
n.2962T>C
c.3980T>C (p.Val1327Ala)
c.3608T>C (p.Val1203Ala)
c.3971T>C (p.Val1324Ala)
c.3272T>C (p.Val1091Ala)
c.4019T>C (p.Val1340Ala)
 dbSNP
16g.3740507A>TCA394565433CREBBPc.4025T>A (p.Val1342Glu)
c.3911T>A (p.Val1304Glu)
c.2660T>A (p.Val887Glu)
n.489T>A
c.331T>A
n.107T>A
n.2962T>A
c.3980T>A (p.Val1327Glu)
c.3608T>A (p.Val1203Glu)
c.3971T>A (p.Val1324Glu)
c.3272T>A (p.Val1091Glu)
c.4019T>A (p.Val1340Glu)
 dbSNP
16g.3740508C>ACA394565434CREBBPc.4024G>T (p.Val1342Leu)
c.3910G>T (p.Val1304Leu)
c.2659G>T (p.Val887Leu)
n.488G>T
c.330G>T
n.106G>T
n.2961G>T
c.3979G>T (p.Val1327Leu)
c.3607G>T (p.Val1203Leu)
c.3970G>T (p.Val1324Leu)
c.3271G>T (p.Val1091Leu)
c.4018G>T (p.Val1340Leu)
16g.3740508C>GCA394565435CREBBPc.4024G>C (p.Val1342Leu)
c.3910G>C (p.Val1304Leu)
c.2659G>C (p.Val887Leu)
n.488G>C
c.330G>C
n.106G>C
n.2961G>C
c.3979G>C (p.Val1327Leu)
c.3607G>C (p.Val1203Leu)
c.3970G>C (p.Val1324Leu)
c.3271G>C (p.Val1091Leu)
c.4018G>C (p.Val1340Leu)
 dbSNP
16g.3740508C>TCA394565436CREBBPc.4024G>A (p.Val1342Met)
c.3910G>A (p.Val1304Met)
c.2659G>A (p.Val887Met)
n.488G>A
c.330G>A
n.106G>A
n.2961G>A
c.3979G>A (p.Val1327Met)
c.3607G>A (p.Val1203Met)
c.3970G>A (p.Val1324Met)
c.3271G>A (p.Val1091Met)
c.4018G>A (p.Val1340Met)
 dbSNP
16g.3740509T>ACA493280428CREBBPc.4023A>T (p.Arg1341=)
c.3909A>T (p.Arg1303=)
c.2658A>T (p.Arg886=)
n.487A>T
c.329A>T
n.105A>T
n.2960A>T
c.3978A>T (p.Arg1326=)
c.3606A>T (p.Arg1202=)
c.3969A>T (p.Arg1323=)
c.3270A>T (p.Arg1090=)
c.4017A>T (p.Arg1339=)
 dbSNP
16g.3740509T>CCA493280429CREBBPc.4023A>G (p.Arg1341=)
c.3909A>G (p.Arg1303=)
c.2658A>G (p.Arg886=)
n.487A>G
c.329A>G
n.105A>G
n.2960A>G
c.3978A>G (p.Arg1326=)
c.3606A>G (p.Arg1202=)
c.3969A>G (p.Arg1323=)
c.3270A>G (p.Arg1090=)
c.4017A>G (p.Arg1339=)
 dbSNP
16g.3740509T>GCA493280431CREBBPc.4023A>C (p.Arg1341=)
c.3909A>C (p.Arg1303=)
c.2658A>C (p.Arg886=)
n.487A>C
c.329A>C
n.105A>C
n.2960A>C
c.3978A>C (p.Arg1326=)
c.3606A>C (p.Arg1202=)
c.3969A>C (p.Arg1323=)
c.3270A>C (p.Arg1090=)
c.4017A>C (p.Arg1339=)
16g.3740510C>ACA394565437CREBBPc.4022G>T (p.Arg1341Leu)
c.3908G>T (p.Arg1303Leu)
c.2657G>T (p.Arg886Leu)
n.486G>T
c.328G>T
n.104G>T
n.2959G>T
c.3977G>T (p.Arg1326Leu)
c.3605G>T (p.Arg1202Leu)
c.3968G>T (p.Arg1323Leu)
c.3269G>T (p.Arg1090Leu)
c.4016G>T (p.Arg1339Leu)
16g.3740510C=CA2202940904CREBBPc.4022G= (p.Arg1341=)
c.3908G= (p.Arg1303=)
c.2657G= (p.Arg886=)
n.486G=
c.328G=
n.104G=
n.2959G=
c.3977G= (p.Arg1326=)
c.3605G= (p.Arg1202=)
c.3968G= (p.Arg1323=)
c.3269G= (p.Arg1090=)
c.4016G= (p.Arg1339=)
16g.3740510C>GCA271401CREBBPc.4022G>C (p.Arg1341Pro)
c.3908G>C (p.Arg1303Pro)
c.2657G>C (p.Arg886Pro)
n.486G>C
c.328G>C
n.104G>C
n.2959G>C
c.3977G>C (p.Arg1326Pro)
c.3605G>C (p.Arg1202Pro)
c.3968G>C (p.Arg1323Pro)
c.3269G>C (p.Arg1090Pro)
c.4016G>C (p.Arg1339Pro)
 ClinVar dbSNP
16g.3740510C>TCA394565438CREBBPc.4022G>A (p.Arg1341Gln)
c.3908G>A (p.Arg1303Gln)
c.2657G>A (p.Arg886Gln)
n.486G>A
c.328G>A
n.104G>A
n.2959G>A
c.3977G>A (p.Arg1326Gln)
c.3605G>A (p.Arg1202Gln)
c.3968G>A (p.Arg1323Gln)
c.3269G>A (p.Arg1090Gln)
c.4016G>A (p.Arg1339Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3740511G>ACA394565439CREBBPc.4021C>T (p.Arg1341Ter)
c.3907C>T (p.Arg1303Ter)
c.2656C>T (p.Arg886Ter)
n.485C>T
c.327C>T
n.103C>T
n.2958C>T
c.3976C>T (p.Arg1326Ter)
c.3604C>T (p.Arg1202Ter)
c.3967C>T (p.Arg1323Ter)
c.3268C>T (p.Arg1090Ter)
c.4015C>T (p.Arg1339Ter)
 ClinVar dbSNP COSMIC
16g.3740511G>CCA394565440CREBBPc.4021C>G (p.Arg1341Gly)
c.3907C>G (p.Arg1303Gly)
c.2656C>G (p.Arg886Gly)
n.485C>G
c.327C>G
n.103C>G
n.2958C>G
c.3976C>G (p.Arg1326Gly)
c.3604C>G (p.Arg1202Gly)
c.3967C>G (p.Arg1323Gly)
c.3268C>G (p.Arg1090Gly)
c.4015C>G (p.Arg1339Gly)
 dbSNP
16g.3740511G=CA2202940907CREBBPc.4021C= (p.Arg1341=)
c.3907C= (p.Arg1303=)
c.2656C= (p.Arg886=)
n.485C=
c.327C=
n.103C=
n.2958C=
c.3976C= (p.Arg1326=)
c.3604C= (p.Arg1202=)
c.3967C= (p.Arg1323=)
c.3268C= (p.Arg1090=)
c.4015C= (p.Arg1339=)
16g.3740511G>TCA493280437CREBBPc.4021C>A (p.Arg1341=)
c.3907C>A (p.Arg1303=)
c.2656C>A (p.Arg886=)
n.485C>A
c.327C>A
n.103C>A
n.2958C>A
c.3976C>A (p.Arg1326=)
c.3604C>A (p.Arg1202=)
c.3967C>A (p.Arg1323=)
c.3268C>A (p.Arg1090=)
c.4015C>A (p.Arg1339=)
 dbSNP gnomAD v2
16g.3740512G>ACA493280441CREBBPc.4020C>T (p.Asp1340=)
c.3906C>T (p.Asp1302=)
c.2655C>T (p.Asp885=)
n.484C>T
c.326C>T
n.102C>T
n.2957C>T
c.3975C>T (p.Asp1325=)
c.3603C>T (p.Asp1201=)
c.3966C>T (p.Asp1322=)
c.3267C>T (p.Asp1089=)
c.4014C>T (p.Asp1338=)
 ClinVar dbSNP gnomAD v4
16g.3740512G>CCA394565441CREBBPc.4020C>G (p.Asp1340Glu)
c.3906C>G (p.Asp1302Glu)
c.2655C>G (p.Asp885Glu)
n.484C>G
c.326C>G
n.102C>G
n.2957C>G
c.3975C>G (p.Asp1325Glu)
c.3603C>G (p.Asp1201Glu)
c.3966C>G (p.Asp1322Glu)
c.3267C>G (p.Asp1089Glu)
c.4014C>G (p.Asp1338Glu)
 dbSNP
16g.3740512G=CA2202940912CREBBPc.4020C= (p.Asp1340=)
c.3906C= (p.Asp1302=)
c.2655C= (p.Asp885=)
n.484C=
c.326C=
n.102C=
n.2957C=
c.3975C= (p.Asp1325=)
c.3603C= (p.Asp1201=)
c.3966C= (p.Asp1322=)
c.3267C= (p.Asp1089=)
c.4014C= (p.Asp1338=)
16g.3740512G>TCA394565442CREBBPc.4020C>A (p.Asp1340Glu)
c.3906C>A (p.Asp1302Glu)
c.2655C>A (p.Asp885Glu)
n.484C>A
c.326C>A
n.102C>A
n.2957C>A
c.3975C>A (p.Asp1325Glu)
c.3603C>A (p.Asp1201Glu)
c.3966C>A (p.Asp1322Glu)
c.3267C>A (p.Asp1089Glu)
c.4014C>A (p.Asp1338Glu)
 dbSNP
16g.3740513T>ACA394565443CREBBPc.4019A>T (p.Asp1340Val)
c.3905A>T (p.Asp1302Val)
c.2654A>T (p.Asp885Val)
n.483A>T
c.325A>T
n.101A>T
n.2956A>T
c.3974A>T (p.Asp1325Val)
c.3602A>T (p.Asp1201Val)
c.3965A>T (p.Asp1322Val)
c.3266A>T (p.Asp1089Val)
c.4013A>T (p.Asp1338Val)
 dbSNP
16g.3740513T>CCA394565445CREBBPc.4019A>G (p.Asp1340Gly)
c.3905A>G (p.Asp1302Gly)
c.2654A>G (p.Asp885Gly)
n.483A>G
c.325A>G
n.101A>G
n.2956A>G
c.3974A>G (p.Asp1325Gly)
c.3602A>G (p.Asp1201Gly)
c.3965A>G (p.Asp1322Gly)
c.3266A>G (p.Asp1089Gly)
c.4013A>G (p.Asp1338Gly)
 dbSNP
16g.3740513T>GCA394565444CREBBPc.4019A>C (p.Asp1340Ala)
c.3905A>C (p.Asp1302Ala)
c.2654A>C (p.Asp885Ala)
n.483A>C
c.325A>C
n.101A>C
n.2956A>C
c.3974A>C (p.Asp1325Ala)
c.3602A>C (p.Asp1201Ala)
c.3965A>C (p.Asp1322Ala)
c.3266A>C (p.Asp1089Ala)
c.4013A>C (p.Asp1338Ala)
16g.3740514C>ACA394565446CREBBPc.4018G>T (p.Asp1340Tyr)
c.3904G>T (p.Asp1302Tyr)
c.2653G>T (p.Asp885Tyr)
n.482G>T
c.324G>T
n.100G>T
n.2955G>T
c.3973G>T (p.Asp1325Tyr)
c.3601G>T (p.Asp1201Tyr)
c.3964G>T (p.Asp1322Tyr)
c.3265G>T (p.Asp1089Tyr)
c.4012G>T (p.Asp1338Tyr)
16g.3740514C>GCA394565447CREBBPc.4018G>C (p.Asp1340His)
c.3904G>C (p.Asp1302His)
c.2653G>C (p.Asp885His)
n.482G>C
c.324G>C
n.100G>C
n.2955G>C
c.3973G>C (p.Asp1325His)
c.3601G>C (p.Asp1201His)
c.3964G>C (p.Asp1322His)
c.3265G>C (p.Asp1089His)
c.4012G>C (p.Asp1338His)
16g.3740514C>TCA394565448CREBBPc.4018G>A (p.Asp1340Asn)
c.3904G>A (p.Asp1302Asn)
c.2653G>A (p.Asp885Asn)
n.482G>A
c.324G>A
n.100G>A
n.2955G>A
c.3973G>A (p.Asp1325Asn)
c.3601G>A (p.Asp1201Asn)
c.3964G>A (p.Asp1322Asn)
c.3265G>A (p.Asp1089Asn)
c.4012G>A (p.Asp1338Asn)
16g.3740515T>ACA394565449CREBBPc.4017A>T (p.Glu1339Asp)
c.3903A>T (p.Glu1301Asp)
c.2652A>T (p.Glu884Asp)
n.481A>T
c.323A>T
n.99A>T
n.2954A>T
c.3972A>T (p.Glu1324Asp)
c.3600A>T (p.Glu1200Asp)
c.3963A>T (p.Glu1321Asp)
c.3264A>T (p.Glu1088Asp)
c.4011A>T (p.Glu1337Asp)
 dbSNP
16g.3740515T>CCA7869629CREBBPc.4017A>G (p.Glu1339=)
c.3903A>G (p.Glu1301=)
c.2652A>G (p.Glu884=)
n.481A>G
c.323A>G
n.99A>G
n.2954A>G
c.3972A>G (p.Glu1324=)
c.3600A>G (p.Glu1200=)
c.3963A>G (p.Glu1321=)
c.3264A>G (p.Glu1088=)
c.4011A>G (p.Glu1337=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3740515T>GCA394565450CREBBPc.4017A>C (p.Glu1339Asp)
c.3903A>C (p.Glu1301Asp)
c.2652A>C (p.Glu884Asp)
n.481A>C
c.323A>C
n.99A>C
n.2954A>C
c.3972A>C (p.Glu1324Asp)
c.3600A>C (p.Glu1200Asp)
c.3963A>C (p.Glu1321Asp)
c.3264A>C (p.Glu1088Asp)
c.4011A>C (p.Glu1337Asp)
16g.3740515T=CA2202940915CREBBPc.4017A= (p.Glu1339=)
c.3903A= (p.Glu1301=)
c.2652A= (p.Glu884=)
n.481A=
c.323A=
n.99A=
n.2954A=
c.3972A= (p.Glu1324=)
c.3600A= (p.Glu1200=)
c.3963A= (p.Glu1321=)
c.3264A= (p.Glu1088=)
c.4011A= (p.Glu1337=)
16g.3740516T>ACA394565451CREBBPc.4016A>T (p.Glu1339Val)
c.3902A>T (p.Glu1301Val)
c.2651A>T (p.Glu884Val)
n.480A>T
c.322A>T
n.98A>T
n.2953A>T
c.3971A>T (p.Glu1324Val)
c.3599A>T (p.Glu1200Val)
c.3962A>T (p.Glu1321Val)
c.3263A>T (p.Glu1088Val)
c.4010A>T (p.Glu1337Val)
16g.3740516T>CCA394565452CREBBPc.4016A>G (p.Glu1339Gly)
c.3902A>G (p.Glu1301Gly)
c.2651A>G (p.Glu884Gly)
n.480A>G
c.322A>G
n.98A>G
n.2953A>G
c.3971A>G (p.Glu1324Gly)
c.3599A>G (p.Glu1200Gly)
c.3962A>G (p.Glu1321Gly)
c.3263A>G (p.Glu1088Gly)
c.4010A>G (p.Glu1337Gly)
16g.3740516T>GCA394565453CREBBPc.4016A>C (p.Glu1339Ala)
c.3902A>C (p.Glu1301Ala)
c.2651A>C (p.Glu884Ala)
n.480A>C
c.322A>C
n.98A>C
n.2953A>C
c.3971A>C (p.Glu1324Ala)
c.3599A>C (p.Glu1200Ala)
c.3962A>C (p.Glu1321Ala)
c.3263A>C (p.Glu1088Ala)
c.4010A>C (p.Glu1337Ala)
16g.3740516_3740517insGACA2805633190CREBBPc.4015_4016insTC (p.Glu1339ValfsTer5)
c.3901_3902insTC (p.Glu1301ValfsTer5)
c.2650_2651insTC (p.Glu884ValfsTer5)
n.479_480insTC
c.321_322insTC
n.97_98insTC
n.2952_2953insTC
c.3970_3971insTC (p.Glu1324ValfsTer5)
c.3598_3599insTC (p.Glu1200ValfsTer5)
c.3961_3962insTC (p.Glu1321ValfsTer5)
c.3262_3263insTC (p.Glu1088ValfsTer5)
c.4009_4010insTC (p.Glu1337ValfsTer5)
16g.3740517C>ACA394565454CREBBPc.4015G>T (p.Glu1339Ter)
c.3901G>T (p.Glu1301Ter)
c.2650G>T (p.Glu884Ter)
n.479G>T
c.321G>T
n.97G>T
n.2952G>T
c.3970G>T (p.Glu1324Ter)
c.3598G>T (p.Glu1200Ter)
c.3961G>T (p.Glu1321Ter)
c.3262G>T (p.Glu1088Ter)
c.4009G>T (p.Glu1337Ter)
 dbSNP
16g.3740517C>GCA394565455CREBBPc.4015G>C (p.Glu1339Gln)
c.3901G>C (p.Glu1301Gln)
c.2650G>C (p.Glu884Gln)
n.479G>C
c.321G>C
n.97G>C
n.2952G>C
c.3970G>C (p.Glu1324Gln)
c.3598G>C (p.Glu1200Gln)
c.3961G>C (p.Glu1321Gln)
c.3262G>C (p.Glu1088Gln)
c.4009G>C (p.Glu1337Gln)
 dbSNP
16g.3740517C>TCA394565456CREBBPc.4015G>A (p.Glu1339Lys)
c.3901G>A (p.Glu1301Lys)
c.2650G>A (p.Glu884Lys)
n.479G>A
c.321G>A
n.97G>A
n.2952G>A
c.3970G>A (p.Glu1324Lys)
c.3598G>A (p.Glu1200Lys)
c.3961G>A (p.Glu1321Lys)
c.3262G>A (p.Glu1088Lys)
c.4009G>A (p.Glu1337Lys)
 dbSNP
16g.3740518C>ACA394565458CREBBPc.4014G>T (p.Leu1338Phe)
c.3900G>T (p.Leu1300Phe)
c.2649G>T (p.Leu883Phe)
n.478G>T
c.320G>T
n.96G>T
n.2951G>T
c.3969G>T (p.Leu1323Phe)
c.3597G>T (p.Leu1199Phe)
c.3960G>T (p.Leu1320Phe)
c.3261G>T (p.Leu1087Phe)
c.4008G>T (p.Leu1336Phe)
 dbSNP
16g.3740518C=CA2202940917CREBBPc.4014G= (p.Leu1338=)
c.3900G= (p.Leu1300=)
c.2649G= (p.Leu883=)
n.478G=
c.320G=
n.96G=
n.2951G=
c.3969G= (p.Leu1323=)
c.3597G= (p.Leu1199=)
c.3960G= (p.Leu1320=)
c.3261G= (p.Leu1087=)
c.4008G= (p.Leu1336=)
16g.3740518C>GCA394565457CREBBPc.4014G>C (p.Leu1338Phe)
c.3900G>C (p.Leu1300Phe)
c.2649G>C (p.Leu883Phe)
n.478G>C
c.320G>C
n.96G>C
n.2951G>C
c.3969G>C (p.Leu1323Phe)
c.3597G>C (p.Leu1199Phe)
c.3960G>C (p.Leu1320Phe)
c.3261G>C (p.Leu1087Phe)
c.4008G>C (p.Leu1336Phe)
 dbSNP
16g.3740518C>TCA493280459CREBBPc.4014G>A (p.Leu1338=)
c.3900G>A (p.Leu1300=)
c.2649G>A (p.Leu883=)
n.478G>A
c.320G>A
n.96G>A
n.2951G>A
c.3969G>A (p.Leu1323=)
c.3597G>A (p.Leu1199=)
c.3960G>A (p.Leu1320=)
c.3261G>A (p.Leu1087=)
c.4008G>A (p.Leu1336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3740519A>CCA394565459CREBBPc.4013T>G (p.Leu1338Trp)
c.3899T>G (p.Leu1300Trp)
c.2648T>G (p.Leu883Trp)
n.477T>G
c.319T>G
n.95T>G
n.2950T>G
c.3968T>G (p.Leu1323Trp)
c.3596T>G (p.Leu1199Trp)
c.3959T>G (p.Leu1320Trp)
c.3260T>G (p.Leu1087Trp)
c.4007T>G (p.Leu1336Trp)
 ClinVar dbSNP
16g.3740519A>GCA394565460CREBBPc.4013T>C (p.Leu1338Ser)
c.3899T>C (p.Leu1300Ser)
c.2648T>C (p.Leu883Ser)
n.477T>C
c.319T>C
n.95T>C
n.2950T>C
c.3968T>C (p.Leu1323Ser)
c.3596T>C (p.Leu1199Ser)
c.3959T>C (p.Leu1320Ser)
c.3260T>C (p.Leu1087Ser)
c.4007T>C (p.Leu1336Ser)
 COSMIC
16g.3740519A>TCA394565461CREBBPc.4013T>A (p.Leu1338Ter)
c.3899T>A (p.Leu1300Ter)
c.2648T>A (p.Leu883Ter)
n.477T>A
c.319T>A
n.95T>A
n.2950T>A
c.3968T>A (p.Leu1323Ter)
c.3596T>A (p.Leu1199Ter)
c.3959T>A (p.Leu1320Ter)
c.3260T>A (p.Leu1087Ter)
c.4007T>A (p.Leu1336Ter)
 dbSNP
16g.3740520A=CA2202940919CREBBPc.4012T= (p.Leu1338=)
c.3898T= (p.Leu1300=)
c.2647T= (p.Leu883=)
n.476T=
c.318T=
n.94T=
n.2949T=
c.3967T= (p.Leu1323=)
c.3595T= (p.Leu1199=)
c.3958T= (p.Leu1320=)
c.3259T= (p.Leu1087=)
c.4006T= (p.Leu1336=)
16g.3740520A>CCA394565462CREBBPc.4012T>G (p.Leu1338Val)
c.3898T>G (p.Leu1300Val)
c.2647T>G (p.Leu883Val)
n.476T>G
c.318T>G
n.94T>G
n.2949T>G
c.3967T>G (p.Leu1323Val)
c.3595T>G (p.Leu1199Val)
c.3958T>G (p.Leu1320Val)
c.3259T>G (p.Leu1087Val)
c.4006T>G (p.Leu1336Val)
16g.3740520A>GCA493280465CREBBPc.4012T>C (p.Leu1338=)
c.3898T>C (p.Leu1300=)
c.2647T>C (p.Leu883=)
n.476T>C
c.318T>C
n.94T>C
n.2949T>C
c.3967T>C (p.Leu1323=)
c.3595T>C (p.Leu1199=)
c.3958T>C (p.Leu1320=)
c.3259T>C (p.Leu1087=)
c.4006T>C (p.Leu1336=)
 dbSNP gnomAD v3 gnomAD v4
16g.3740520A>TCA394565463CREBBPc.4012T>A (p.Leu1338Met)
c.3898T>A (p.Leu1300Met)
c.2647T>A (p.Leu883Met)
n.476T>A
c.318T>A
n.94T>A
n.2949T>A
c.3967T>A (p.Leu1323Met)
c.3595T>A (p.Leu1199Met)
c.3958T>A (p.Leu1320Met)
c.3259T>A (p.Leu1087Met)
c.4006T>A (p.Leu1336Met)
 dbSNP
16g.3740521G>ACA276983232CREBBPc.4011C>T (p.His1337=)
c.3897C>T (p.His1299=)
c.2646C>T (p.His882=)
n.475C>T
c.317C>T
n.93C>T
n.2948C>T
c.3966C>T (p.His1322=)
c.3594C>T (p.His1198=)
c.3957C>T (p.His1319=)
c.3258C>T (p.His1086=)
c.4005C>T (p.His1335=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3740521G>CCA394565464CREBBPc.4011C>G (p.His1337Gln)
c.3897C>G (p.His1299Gln)
c.2646C>G (p.His882Gln)
n.475C>G
c.317C>G
n.93C>G
n.2948C>G
c.3966C>G (p.His1322Gln)
c.3594C>G (p.His1198Gln)
c.3957C>G (p.His1319Gln)
c.3258C>G (p.His1086Gln)
c.4005C>G (p.His1335Gln)
 ClinVar dbSNP
16g.3740521G=CA2202940921CREBBPc.4011C= (p.His1337=)
c.3897C= (p.His1299=)
c.2646C= (p.His882=)
n.475C=
c.317C=
n.93C=
n.2948C=
c.3966C= (p.His1322=)
c.3594C= (p.His1198=)
c.3957C= (p.His1319=)
c.3258C= (p.His1086=)
c.4005C= (p.His1335=)
16g.3740521G>TCA394565465CREBBPc.4011C>A (p.His1337Gln)
c.3897C>A (p.His1299Gln)
c.2646C>A (p.His882Gln)
n.475C>A
c.317C>A
n.93C>A
n.2948C>A
c.3966C>A (p.His1322Gln)
c.3594C>A (p.His1198Gln)
c.3957C>A (p.His1319Gln)
c.3258C>A (p.His1086Gln)
c.4005C>A (p.His1335Gln)
16g.3740522T>ACA394565466CREBBPc.4010A>T (p.His1337Leu)
c.3896A>T (p.His1299Leu)
c.2645A>T (p.His882Leu)
n.474A>T
c.316A>T
n.92A>T
n.2947A>T
c.3965A>T (p.His1322Leu)
c.3593A>T (p.His1198Leu)
c.3956A>T (p.His1319Leu)
c.3257A>T (p.His1086Leu)
c.4004A>T (p.His1335Leu)
 dbSNP
16g.3740522T>CCA394565467CREBBPc.4010A>G (p.His1337Arg)
c.3896A>G (p.His1299Arg)
c.2645A>G (p.His882Arg)
n.474A>G
c.316A>G
n.92A>G
n.2947A>G
c.3965A>G (p.His1322Arg)
c.3593A>G (p.His1198Arg)
c.3956A>G (p.His1319Arg)
c.3257A>G (p.His1086Arg)
c.4004A>G (p.His1335Arg)
 dbSNP gnomAD v4
16g.3740522T>GCA394565468CREBBPc.4010A>C (p.His1337Pro)
c.3896A>C (p.His1299Pro)
c.2645A>C (p.His882Pro)
n.474A>C
c.316A>C
n.92A>C
n.2947A>C
c.3965A>C (p.His1322Pro)
c.3593A>C (p.His1198Pro)
c.3956A>C (p.His1319Pro)
c.3257A>C (p.His1086Pro)
c.4004A>C (p.His1335Pro)
 dbSNP
16g.3740523G>ACA394565469CREBBPc.4009C>T (p.His1337Tyr)
c.3895C>T (p.His1299Tyr)
c.2644C>T (p.His882Tyr)
n.473C>T
c.315C>T
n.91C>T
n.2946C>T
c.3964C>T (p.His1322Tyr)
c.3592C>T (p.His1198Tyr)
c.3955C>T (p.His1319Tyr)
c.3256C>T (p.His1086Tyr)
c.4003C>T (p.His1335Tyr)
 dbSNP
16g.3740523G>CCA394565470CREBBPc.4009C>G (p.His1337Asp)
c.3895C>G (p.His1299Asp)
c.2644C>G (p.His882Asp)
n.473C>G
c.315C>G
n.91C>G
n.2946C>G
c.3964C>G (p.His1322Asp)
c.3592C>G (p.His1198Asp)
c.3955C>G (p.His1319Asp)
c.3256C>G (p.His1086Asp)
c.4003C>G (p.His1335Asp)
 dbSNP
16g.3740523G>TCA394565471CREBBPc.4009C>A (p.His1337Asn)
c.3895C>A (p.His1299Asn)
c.2644C>A (p.His882Asn)
n.473C>A
c.315C>A
n.91C>A
n.2946C>A
c.3964C>A (p.His1322Asn)
c.3592C>A (p.His1198Asn)
c.3955C>A (p.His1319Asn)
c.3256C>A (p.His1086Asn)
c.4003C>A (p.His1335Asn)
16g.3740524G>ACA493280477CREBBPc.4008C>T (p.Asn1336=)
c.3894C>T (p.Asn1298=)
c.2643C>T (p.Asn881=)
n.472C>T
c.314C>T
n.90C>T
n.2945C>T
c.3963C>T (p.Asn1321=)
c.3591C>T (p.Asn1197=)
c.3954C>T (p.Asn1318=)
c.3255C>T (p.Asn1085=)
c.4002C>T (p.Asn1334=)
16g.3740524G>CCA394565472CREBBPc.4008C>G (p.Asn1336Lys)
c.3894C>G (p.Asn1298Lys)
c.2643C>G (p.Asn881Lys)
n.472C>G
c.314C>G
n.90C>G
n.2945C>G
c.3963C>G (p.Asn1321Lys)
c.3591C>G (p.Asn1197Lys)
c.3954C>G (p.Asn1318Lys)
c.3255C>G (p.Asn1085Lys)
c.4002C>G (p.Asn1334Lys)
 COSMIC
16g.3740524G>TCA394565473CREBBPc.4008C>A (p.Asn1336Lys)
c.3894C>A (p.Asn1298Lys)
c.2643C>A (p.Asn881Lys)
n.472C>A
c.314C>A
n.90C>A
n.2945C>A
c.3963C>A (p.Asn1321Lys)
c.3591C>A (p.Asn1197Lys)
c.3954C>A (p.Asn1318Lys)
c.3255C>A (p.Asn1085Lys)
c.4002C>A (p.Asn1334Lys)
16g.3740525T>ACA394565474CREBBPc.4007A>T (p.Asn1336Ile)
c.3893A>T (p.Asn1298Ile)
c.2642A>T (p.Asn881Ile)
n.471A>T
c.313A>T
n.89A>T
n.2944A>T
c.3962A>T (p.Asn1321Ile)
c.3590A>T (p.Asn1197Ile)
c.3953A>T (p.Asn1318Ile)
c.3254A>T (p.Asn1085Ile)
c.4001A>T (p.Asn1334Ile)
 dbSNP
16g.3740525T>CCA394565475CREBBPc.4007A>G (p.Asn1336Ser)
c.3893A>G (p.Asn1298Ser)
c.2642A>G (p.Asn881Ser)
n.471A>G
c.313A>G
n.89A>G
n.2944A>G
c.3962A>G (p.Asn1321Ser)
c.3590A>G (p.Asn1197Ser)
c.3953A>G (p.Asn1318Ser)
c.3254A>G (p.Asn1085Ser)
c.4001A>G (p.Asn1334Ser)
 dbSNP
16g.3740525T>GCA394565476CREBBPc.4007A>C (p.Asn1336Thr)
c.3893A>C (p.Asn1298Thr)
c.2642A>C (p.Asn881Thr)
n.471A>C
c.313A>C
n.89A>C
n.2944A>C
c.3962A>C (p.Asn1321Thr)
c.3590A>C (p.Asn1197Thr)
c.3953A>C (p.Asn1318Thr)
c.3254A>C (p.Asn1085Thr)
c.4001A>C (p.Asn1334Thr)
16g.3740526T>ACA394565477CREBBPc.4006A>T (p.Asn1336Tyr)
c.3892A>T (p.Asn1298Tyr)
c.2641A>T (p.Asn881Tyr)
n.470A>T
c.312A>T
n.88A>T
n.2943A>T
c.3961A>T (p.Asn1321Tyr)
c.3589A>T (p.Asn1197Tyr)
c.3952A>T (p.Asn1318Tyr)
c.3253A>T (p.Asn1085Tyr)
c.4000A>T (p.Asn1334Tyr)
 dbSNP gnomAD v4
16g.3740526T>CCA394565478CREBBPc.4006A>G (p.Asn1336Asp)
c.3892A>G (p.Asn1298Asp)
c.2641A>G (p.Asn881Asp)
n.470A>G
c.312A>G
n.88A>G
n.2943A>G
c.3961A>G (p.Asn1321Asp)
c.3589A>G (p.Asn1197Asp)
c.3952A>G (p.Asn1318Asp)
c.3253A>G (p.Asn1085Asp)
c.4000A>G (p.Asn1334Asp)
 dbSNP
16g.3740526T>GCA394565479CREBBPc.4006A>C (p.Asn1336His)
c.3892A>C (p.Asn1298His)
c.2641A>C (p.Asn881His)
n.470A>C
c.312A>C
n.88A>C
n.2943A>C
c.3961A>C (p.Asn1321His)
c.3589A>C (p.Asn1197His)
c.3952A>C (p.Asn1318His)
c.3253A>C (p.Asn1085His)
c.4000A>C (p.Asn1334His)
16g.3740527T>ACA493280487CREBBPc.4005A>T (p.Gly1335=)
c.3891A>T (p.Gly1297=)
c.2640A>T (p.Gly880=)
n.469A>T
c.311A>T
n.87A>T
n.2942A>T
c.3960A>T (p.Gly1320=)
c.3588A>T (p.Gly1196=)
c.3951A>T (p.Gly1317=)
c.3252A>T (p.Gly1084=)
c.3999A>T (p.Gly1333=)
 dbSNP
16g.3740527T>CCA493280489CREBBPc.4005A>G (p.Gly1335=)
c.3891A>G (p.Gly1297=)
c.2640A>G (p.Gly880=)
n.469A>G
c.311A>G
n.87A>G
n.2942A>G
c.3960A>G (p.Gly1320=)
c.3588A>G (p.Gly1196=)
c.3951A>G (p.Gly1317=)
c.3252A>G (p.Gly1084=)
c.3999A>G (p.Gly1333=)
16g.3740527T>GCA493280491CREBBPc.4005A>C (p.Gly1335=)
c.3891A>C (p.Gly1297=)
c.2640A>C (p.Gly880=)
n.469A>C
c.311A>C
n.87A>C
n.2942A>C
c.3960A>C (p.Gly1320=)
c.3588A>C (p.Gly1196=)
c.3951A>C (p.Gly1317=)
c.3252A>C (p.Gly1084=)
c.3999A>C (p.Gly1333=)
16g.3740528C>ACA394565480CREBBPc.4004G>T (p.Gly1335Val)
c.3890G>T (p.Gly1297Val)
c.2639G>T (p.Gly880Val)
n.468G>T
c.310G>T
n.86G>T
n.2941G>T
c.3959G>T (p.Gly1320Val)
c.3587G>T (p.Gly1196Val)
c.3950G>T (p.Gly1317Val)
c.3251G>T (p.Gly1084Val)
c.3998G>T (p.Gly1333Val)
 dbSNP
16g.3740528C>GCA394565481CREBBPc.4004G>C (p.Gly1335Ala)
c.3890G>C (p.Gly1297Ala)
c.2639G>C (p.Gly880Ala)
n.468G>C
c.310G>C
n.86G>C
n.2941G>C
c.3959G>C (p.Gly1320Ala)
c.3587G>C (p.Gly1196Ala)
c.3950G>C (p.Gly1317Ala)
c.3251G>C (p.Gly1084Ala)
c.3998G>C (p.Gly1333Ala)
 dbSNP
16g.3740528C>TCA394565482CREBBPc.4004G>A (p.Gly1335Glu)
c.3890G>A (p.Gly1297Glu)
c.2639G>A (p.Gly880Glu)
n.468G>A
c.310G>A
n.86G>A
n.2941G>A
c.3959G>A (p.Gly1320Glu)
c.3587G>A (p.Gly1196Glu)
c.3950G>A (p.Gly1317Glu)
c.3251G>A (p.Gly1084Glu)
c.3998G>A (p.Gly1333Glu)
 dbSNP gnomAD v4
16g.3740529C>ACA394565483CREBBPc.4003G>T (p.Gly1335Ter)
c.3889G>T (p.Gly1297Ter)
c.2638G>T (p.Gly880Ter)
n.467G>T
c.309G>T
n.85G>T
n.2940G>T
c.3958G>T (p.Gly1320Ter)
c.3586G>T (p.Gly1196Ter)
c.3949G>T (p.Gly1317Ter)
c.3250G>T (p.Gly1084Ter)
c.3997G>T (p.Gly1333Ter)
 dbSNP
16g.3740529C>GCA394565484CREBBPc.4003G>C (p.Gly1335Arg)
c.3889G>C (p.Gly1297Arg)
c.2638G>C (p.Gly880Arg)
n.467G>C
c.309G>C
n.85G>C
n.2940G>C
c.3958G>C (p.Gly1320Arg)
c.3586G>C (p.Gly1196Arg)
c.3949G>C (p.Gly1317Arg)
c.3250G>C (p.Gly1084Arg)
c.3997G>C (p.Gly1333Arg)
 dbSNP
16g.3740529C>TCA394565485CREBBPc.4003G>A (p.Gly1335Arg)
c.3889G>A (p.Gly1297Arg)
c.2638G>A (p.Gly880Arg)
n.467G>A
c.309G>A
n.85G>A
n.2940G>A
c.3958G>A (p.Gly1320Arg)
c.3586G>A (p.Gly1196Arg)
c.3949G>A (p.Gly1317Arg)
c.3250G>A (p.Gly1084Arg)
c.3997G>A (p.Gly1333Arg)
 dbSNP
16g.3740530C>ACA493280499CREBBPc.4002G>T (p.Leu1334=)
c.3888G>T (p.Leu1296=)
c.2637G>T (p.Leu879=)
n.466G>T
c.308G>T
n.84G>T
n.2939G>T
c.3957G>T (p.Leu1319=)
c.3585G>T (p.Leu1195=)
c.3948G>T (p.Leu1316=)
c.3249G>T (p.Leu1083=)
c.3996G>T (p.Leu1332=)
16g.3740530C>GCA493280501CREBBPc.4002G>C (p.Leu1334=)
c.3888G>C (p.Leu1296=)
c.2637G>C (p.Leu879=)
n.466G>C
c.308G>C
n.84G>C
n.2939G>C
c.3957G>C (p.Leu1319=)
c.3585G>C (p.Leu1195=)
c.3948G>C (p.Leu1316=)
c.3249G>C (p.Leu1083=)
c.3996G>C (p.Leu1332=)
 dbSNP
16g.3740530C>TCA493280503CREBBPc.4002G>A (p.Leu1334=)
c.3888G>A (p.Leu1296=)
c.2637G>A (p.Leu879=)
n.466G>A
c.308G>A
n.84G>A
n.2939G>A
c.3957G>A (p.Leu1319=)
c.3585G>A (p.Leu1195=)
c.3948G>A (p.Leu1316=)
c.3249G>A (p.Leu1083=)
c.3996G>A (p.Leu1332=)
 dbSNP gnomAD v4
16g.3740531A>CCA394565487CREBBPc.4001T>G (p.Leu1334Arg)
c.3887T>G (p.Leu1296Arg)
c.2636T>G (p.Leu879Arg)
n.465T>G
c.307T>G
n.83T>G
n.2938T>G
c.3956T>G (p.Leu1319Arg)
c.3584T>G (p.Leu1195Arg)
c.3947T>G (p.Leu1316Arg)
c.3248T>G (p.Leu1083Arg)
c.3995T>G (p.Leu1332Arg)
16g.3740531A>GCA394565488CREBBPc.4001T>C (p.Leu1334Pro)
c.3887T>C (p.Leu1296Pro)
c.2636T>C (p.Leu879Pro)
n.465T>C
c.307T>C
n.83T>C
n.2938T>C
c.3956T>C (p.Leu1319Pro)
c.3584T>C (p.Leu1195Pro)
c.3947T>C (p.Leu1316Pro)
c.3248T>C (p.Leu1083Pro)
c.3995T>C (p.Leu1332Pro)
 dbSNP
16g.3740531A>TCA394565486CREBBPc.4001T>A (p.Leu1334Gln)
c.3887T>A (p.Leu1296Gln)
c.2636T>A (p.Leu879Gln)
n.465T>A
c.307T>A
n.83T>A
n.2938T>A
c.3956T>A (p.Leu1319Gln)
c.3584T>A (p.Leu1195Gln)
c.3947T>A (p.Leu1316Gln)
c.3248T>A (p.Leu1083Gln)
c.3995T>A (p.Leu1332Gln)
 dbSNP
16g.3740532G>ACA493280508CREBBPc.4000C>T (p.Leu1334=)
c.3886C>T (p.Leu1296=)
c.2635C>T (p.Leu879=)
n.464C>T
c.306C>T
n.82C>T
n.2937C>T
c.3955C>T (p.Leu1319=)
c.3583C>T (p.Leu1195=)
c.3946C>T (p.Leu1316=)
c.3247C>T (p.Leu1083=)
c.3994C>T (p.Leu1332=)
16g.3740532G>CCA394565489CREBBPc.4000C>G (p.Leu1334Val)
c.3886C>G (p.Leu1296Val)
c.2635C>G (p.Leu879Val)
n.464C>G
c.306C>G
n.82C>G
n.2937C>G
c.3955C>G (p.Leu1319Val)
c.3583C>G (p.Leu1195Val)
c.3946C>G (p.Leu1316Val)
c.3247C>G (p.Leu1083Val)
c.3994C>G (p.Leu1332Val)
 dbSNP
16g.3740532G>TCA394565490CREBBPc.4000C>A (p.Leu1334Met)
c.3886C>A (p.Leu1296Met)
c.2635C>A (p.Leu879Met)
n.464C>A
c.306C>A
n.82C>A
n.2937C>A
c.3955C>A (p.Leu1319Met)
c.3583C>A (p.Leu1195Met)
c.3946C>A (p.Leu1316Met)
c.3247C>A (p.Leu1083Met)
c.3994C>A (p.Leu1332Met)
16g.3740533T>ACA394565491CREBBPc.3999A>T (p.Arg1333Ser)
c.3885A>T (p.Arg1295Ser)
c.2634A>T (p.Arg878Ser)
n.463A>T
c.305A>T
n.81A>T
n.2936A>T
c.3954A>T (p.Arg1318Ser)
c.3582A>T (p.Arg1194Ser)
c.3945A>T (p.Arg1315Ser)
c.3246A>T (p.Arg1082Ser)
c.3993A>T (p.Arg1331Ser)
 dbSNP
16g.3740533T>CCA493280512CREBBPc.3999A>G (p.Arg1333=)
c.3885A>G (p.Arg1295=)
c.2634A>G (p.Arg878=)
n.463A>G
c.305A>G
n.81A>G
n.2936A>G
c.3954A>G (p.Arg1318=)
c.3582A>G (p.Arg1194=)
c.3945A>G (p.Arg1315=)
c.3246A>G (p.Arg1082=)
c.3993A>G (p.Arg1331=)
16g.3740533T>GCA394565492CREBBPc.3999A>C (p.Arg1333Ser)
c.3885A>C (p.Arg1295Ser)
c.2634A>C (p.Arg878Ser)
n.463A>C
c.305A>C
n.81A>C
n.2936A>C
c.3954A>C (p.Arg1318Ser)
c.3582A>C (p.Arg1194Ser)
c.3945A>C (p.Arg1315Ser)
c.3246A>C (p.Arg1082Ser)
c.3993A>C (p.Arg1331Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.3740533T=CA2202940923CREBBPc.3999A= (p.Arg1333=)
c.3885A= (p.Arg1295=)
c.2634A= (p.Arg878=)
n.463A=
c.305A=
n.81A=
n.2936A=
c.3954A= (p.Arg1318=)
c.3582A= (p.Arg1194=)
c.3945A= (p.Arg1315=)
c.3246A= (p.Arg1082=)
c.3993A= (p.Arg1331=)
16g.3740533_3740534insAGCA7869630CREBBPc.3998_3999insCT (p.Arg1333SerfsTer11)
c.3884_3885insCT (p.Arg1295SerfsTer11)
c.2633_2634insCT (p.Arg878SerfsTer11)
n.462_463insCT
c.304_305insCT
n.80_81insCT
n.2935_2936insCT
c.3953_3954insCT (p.Arg1318SerfsTer11)
c.3581_3582insCT (p.Arg1194SerfsTer11)
c.3944_3945insCT (p.Arg1315SerfsTer11)
c.3245_3246insCT (p.Arg1082SerfsTer11)
c.3992_3993insCT (p.Arg1331SerfsTer11)
 dbSNP ExAC gnomAD v2
16g.3740534C>ACA394565495CREBBPc.3998G>T (p.Arg1333Ile)
c.3884G>T (p.Arg1295Ile)
c.2633G>T (p.Arg878Ile)
n.462G>T
c.304G>T
n.80G>T
n.2935G>T
c.3953G>T (p.Arg1318Ile)
c.3581G>T (p.Arg1194Ile)
c.3944G>T (p.Arg1315Ile)
c.3245G>T (p.Arg1082Ile)
c.3992G>T (p.Arg1331Ile)
 dbSNP
16g.3740534C>GCA394565493CREBBPc.3998G>C (p.Arg1333Thr)
c.3884G>C (p.Arg1295Thr)
c.2633G>C (p.Arg878Thr)
n.462G>C
c.304G>C
n.80G>C
n.2935G>C
c.3953G>C (p.Arg1318Thr)
c.3581G>C (p.Arg1194Thr)
c.3944G>C (p.Arg1315Thr)
c.3245G>C (p.Arg1082Thr)
c.3992G>C (p.Arg1331Thr)
 dbSNP
16g.3740534C>TCA394565494CREBBPc.3998G>A (p.Arg1333Lys)
c.3884G>A (p.Arg1295Lys)
c.2633G>A (p.Arg878Lys)
n.462G>A
c.304G>A
n.80G>A
n.2935G>A
c.3953G>A (p.Arg1318Lys)
c.3581G>A (p.Arg1194Lys)
c.3944G>A (p.Arg1315Lys)
c.3245G>A (p.Arg1082Lys)
c.3992G>A (p.Arg1331Lys)
 dbSNP
16g.3740534_3740535insGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGCA7869631CREBBPc.3997_3998insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1332_Arg1333insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
c.3883_3884insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1294_Arg1295insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
c.2632_2633insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr877_Arg878insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
n.461_462insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
c.303_304insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
n.79_80insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
n.2934_2935insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
c.3952_3953insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1317_Arg1318insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
c.3580_3581insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1193_Arg1194insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
c.3943_3944insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1314_Arg1315insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
c.3244_3245insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1081_Arg1082insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
c.3991_3992insCTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Thr1330_Arg1331insThrValGluMetThrAlaValSerValPheCysValAlaSerLeuCysGlyThr)
 ExAC
16g.3740534_3740535insGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCACA620464205CREBBPc.3997_3998insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1333MetfsTer4)
c.3883_3884insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1295MetfsTer4)
c.2632_2633insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg878MetfsTer4)
n.461_462insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
c.303_304insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
n.79_80insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
n.2934_2935insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC
c.3952_3953insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1318MetfsTer4)
c.3580_3581insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1194MetfsTer4)
c.3943_3944insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1315MetfsTer4)
c.3244_3245insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1082MetfsTer4)
c.3991_3992insTGAACTGTTGAGATGACTGCAGTGAGCGTGTTTTGTGTGGCGAGTCTGTGTGGGACCC (p.Arg1331MetfsTer4)
 gnomAD v2
16g.3740535T>ACA394565496CREBBPc.3997A>T (p.Arg1333Ter)
c.3883A>T (p.Arg1295Ter)
c.2632A>T (p.Arg878Ter)
n.461A>T
c.303A>T
n.79A>T
n.2934A>T
c.3952A>T (p.Arg1318Ter)
c.3580A>T (p.Arg1194Ter)
c.3943A>T (p.Arg1315Ter)
c.3244A>T (p.Arg1082Ter)
c.3991A>T (p.Arg1331Ter)
 dbSNP
16g.3740535T>CCA394565497CREBBPc.3997A>G (p.Arg1333Gly)
c.3883A>G (p.Arg1295Gly)
c.2632A>G (p.Arg878Gly)
n.461A>G
c.303A>G
n.79A>G
n.2934A>G
c.3952A>G (p.Arg1318Gly)
c.3580A>G (p.Arg1194Gly)
c.3943A>G (p.Arg1315Gly)
c.3244A>G (p.Arg1082Gly)
c.3991A>G (p.Arg1331Gly)
16g.3740535T>GCA493280520CREBBPc.3997A>C (p.Arg1333=)
c.3883A>C (p.Arg1295=)
c.2632A>C (p.Arg878=)
n.461A>C
c.303A>C
n.79A>C
n.2934A>C
c.3952A>C (p.Arg1318=)
c.3580A>C (p.Arg1194=)
c.3943A>C (p.Arg1315=)
c.3244A>C (p.Arg1082=)
c.3991A>C (p.Arg1331=)
16g.3740536T>ACA493280522CREBBPc.3996A>T (p.Thr1332=)
c.3882A>T (p.Thr1294=)
c.2631A>T (p.Thr877=)
n.460A>T
c.302A>T
n.78A>T
n.2933A>T
c.3951A>T (p.Thr1317=)
c.3579A>T (p.Thr1193=)
c.3942A>T (p.Thr1314=)
c.3243A>T (p.Thr1081=)
c.3990A>T (p.Thr1330=)
 dbSNP
16g.3740536T>CCA493280524CREBBPc.3996A>G (p.Thr1332=)
c.3882A>G (p.Thr1294=)
c.2631A>G (p.Thr877=)
n.460A>G
c.302A>G
n.78A>G
n.2933A>G
c.3951A>G (p.Thr1317=)
c.3579A>G (p.Thr1193=)
c.3942A>G (p.Thr1314=)
c.3243A>G (p.Thr1081=)
c.3990A>G (p.Thr1330=)
 dbSNP gnomAD v2 gnomAD v4
16g.3740536T>GCA493280526CREBBPc.3996A>C (p.Thr1332=)
c.3882A>C (p.Thr1294=)
c.2631A>C (p.Thr877=)
n.460A>C
c.302A>C
n.78A>C
n.2933A>C
c.3951A>C (p.Thr1317=)
c.3579A>C (p.Thr1193=)
c.3942A>C (p.Thr1314=)
c.3243A>C (p.Thr1081=)
c.3990A>C (p.Thr1330=)
16g.3740536T=CA2202940926CREBBPc.3996A= (p.Thr1332=)
c.3882A= (p.Thr1294=)
c.2631A= (p.Thr877=)
n.460A=
c.302A=
n.78A=
n.2933A=
c.3951A= (p.Thr1317=)
c.3579A= (p.Thr1193=)
c.3942A= (p.Thr1314=)
c.3243A= (p.Thr1081=)
c.3990A= (p.Thr1330=)
16g.3740537G>ACA394565498CREBBPc.3995C>T (p.Thr1332Ile)
c.3881C>T (p.Thr1294Ile)
c.2630C>T (p.Thr877Ile)
n.459C>T
c.301C>T
n.77C>T
n.2932C>T
c.3950C>T (p.Thr1317Ile)
c.3578C>T (p.Thr1193Ile)
c.3941C>T (p.Thr1314Ile)
c.3242C>T (p.Thr1081Ile)
c.3989C>T (p.Thr1330Ile)
 dbSNP
16g.3740537G>CCA394565499CREBBPc.3995C>G (p.Thr1332Arg)
c.3881C>G (p.Thr1294Arg)
c.2630C>G (p.Thr877Arg)
n.459C>G
c.301C>G
n.77C>G
n.2932C>G
c.3950C>G (p.Thr1317Arg)
c.3578C>G (p.Thr1193Arg)
c.3941C>G (p.Thr1314Arg)
c.3242C>G (p.Thr1081Arg)
c.3989C>G (p.Thr1330Arg)
 dbSNP
16g.3740537G>TCA394565500CREBBPc.3995C>A (p.Thr1332Lys)
c.3881C>A (p.Thr1294Lys)
c.2630C>A (p.Thr877Lys)
n.459C>A
c.301C>A
n.77C>A
n.2932C>A
c.3950C>A (p.Thr1317Lys)
c.3578C>A (p.Thr1193Lys)
c.3941C>A (p.Thr1314Lys)
c.3242C>A (p.Thr1081Lys)
c.3989C>A (p.Thr1330Lys)
 dbSNP
16g.3740538T>ACA394565503CREBBPc.3994A>T (p.Thr1332Ser)
c.3880A>T (p.Thr1294Ser)
c.2629A>T (p.Thr877Ser)
n.458A>T
c.300A>T
n.76A>T
n.2931A>T
c.3949A>T (p.Thr1317Ser)
c.3577A>T (p.Thr1193Ser)
c.3940A>T (p.Thr1314Ser)
c.3241A>T (p.Thr1081Ser)
c.3988A>T (p.Thr1330Ser)
16g.3740538T>CCA394565502CREBBPc.3994A>G (p.Thr1332Ala)
c.3880A>G (p.Thr1294Ala)
c.2629A>G (p.Thr877Ala)
n.458A>G
c.300A>G
n.76A>G
n.2931A>G
c.3949A>G (p.Thr1317Ala)
c.3577A>G (p.Thr1193Ala)
c.3940A>G (p.Thr1314Ala)
c.3241A>G (p.Thr1081Ala)
c.3988A>G (p.Thr1330Ala)
16g.3740538T>GCA394565501CREBBPc.3994A>C (p.Thr1332Pro)
c.3880A>C (p.Thr1294Pro)
c.2629A>C (p.Thr877Pro)
n.458A>C
c.300A>C
n.76A>C
n.2931A>C
c.3949A>C (p.Thr1317Pro)
c.3577A>C (p.Thr1193Pro)
c.3940A>C (p.Thr1314Pro)
c.3241A>C (p.Thr1081Pro)
c.3988A>C (p.Thr1330Pro)
16g.3740538_3740539delinsTGCA2202940928CREBBPc.3993_3994delinsCA (p.Thr1331=)
c.3879_3880delinsCA (p.Thr1293=)
c.2628_2629delinsCA (p.Thr876=)
n.457_458delinsCA
c.299_300delinsCA
n.75_76delinsCA
n.2930_2931delinsCA
c.3948_3949delinsCA (p.Thr1316=)
c.3576_3577delinsCA (p.Thr1192=)
c.3939_3940delinsCA (p.Thr1313=)
c.3240_3241delinsCA (p.Thr1080=)
c.3987_3988delinsCA (p.Thr1329=)
16g.3740539G>ACA493280533CREBBPc.3993C>T (p.Thr1331=)
c.3879C>T (p.Thr1293=)
c.2628C>T (p.Thr876=)
n.457C>T
c.299C>T
n.75C>T
n.2930C>T
c.3948C>T (p.Thr1316=)
c.3576C>T (p.Thr1192=)
c.3939C>T (p.Thr1313=)
c.3240C>T (p.Thr1080=)
c.3987C>T (p.Thr1329=)
 dbSNP gnomAD v4
16g.3740539G>CCA493280535CREBBPc.3993C>G (p.Thr1331=)
c.3879C>G (p.Thr1293=)
c.2628C>G (p.Thr876=)
n.457C>G
c.299C>G
n.75C>G
n.2930C>G
c.3948C>G (p.Thr1316=)
c.3576C>G (p.Thr1192=)
c.3939C>G (p.Thr1313=)
c.3240C>G (p.Thr1080=)
c.3987C>G (p.Thr1329=)
 dbSNP gnomAD v4
16g.3740539G>TCA493280537CREBBPc.3993C>A (p.Thr1331=)
c.3879C>A (p.Thr1293=)
c.2628C>A (p.Thr876=)
n.457C>A
c.299C>A
n.75C>A
n.2930C>A
c.3948C>A (p.Thr1316=)
c.3576C>A (p.Thr1192=)
c.3939C>A (p.Thr1313=)
c.3240C>A (p.Thr1080=)
c.3987C>A (p.Thr1329=)
 dbSNP
16g.3740540delCA275120CREBBPc.3993del (p.Thr1332GlnfsTer11)
c.3879del (p.Thr1294GlnfsTer11)
c.2628del (p.Thr877GlnfsTer11)
n.457del
c.299del
n.75del
n.2930del
c.3948del (p.Thr1317GlnfsTer11)
c.3576del (p.Thr1193GlnfsTer11)
c.3939del (p.Thr1314GlnfsTer11)
c.3240del (p.Thr1081GlnfsTer11)
c.3987del (p.Thr1330GlnfsTer11)
 ClinVar dbSNP
16g.3740540G>ACA394565505CREBBPc.3992C>T (p.Thr1331Ile)
c.3878C>T (p.Thr1293Ile)
c.2627C>T (p.Thr876Ile)
n.456C>T
c.298C>T
n.74C>T
n.2929C>T
c.3947C>T (p.Thr1316Ile)
c.3575C>T (p.Thr1192Ile)
c.3938C>T (p.Thr1313Ile)
c.3239C>T (p.Thr1080Ile)
c.3986C>T (p.Thr1329Ile)
 dbSNP
16g.3740540G>CCA394565504CREBBPc.3992C>G (p.Thr1331Ser)
c.3878C>G (p.Thr1293Ser)
c.2627C>G (p.Thr876Ser)
n.456C>G
c.298C>G
n.74C>G
n.2929C>G
c.3947C>G (p.Thr1316Ser)
c.3575C>G (p.Thr1192Ser)
c.3938C>G (p.Thr1313Ser)
c.3239C>G (p.Thr1080Ser)
c.3986C>G (p.Thr1329Ser)
 dbSNP
16g.3740540G>TCA394565506CREBBPc.3992C>A (p.Thr1331Asn)
c.3878C>A (p.Thr1293Asn)
c.2627C>A (p.Thr876Asn)
n.456C>A
c.298C>A
n.74C>A
n.2929C>A
c.3947C>A (p.Thr1316Asn)
c.3575C>A (p.Thr1192Asn)
c.3938C>A (p.Thr1313Asn)
c.3239C>A (p.Thr1080Asn)
c.3986C>A (p.Thr1329Asn)
 dbSNP
16g.3740541T>ACA394565507CREBBPc.3991A>T (p.Thr1331Ser)
c.3877A>T (p.Thr1293Ser)
c.2626A>T (p.Thr876Ser)
n.455A>T
c.297A>T
n.73A>T
n.2928A>T
c.3946A>T (p.Thr1316Ser)
c.3574A>T (p.Thr1192Ser)
c.3937A>T (p.Thr1313Ser)
c.3238A>T (p.Thr1080Ser)
c.3985A>T (p.Thr1329Ser)
 dbSNP
16g.3740541T>CCA7869632CREBBPc.3991A>G (p.Thr1331Ala)
c.3877A>G (p.Thr1293Ala)
c.2626A>G (p.Thr876Ala)
n.455A>G
c.297A>G
n.73A>G
n.2928A>G
c.3946A>G (p.Thr1316Ala)
c.3574A>G (p.Thr1192Ala)
c.3937A>G (p.Thr1313Ala)
c.3238A>G (p.Thr1080Ala)
c.3985A>G (p.Thr1329Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3740541T>GCA394565508CREBBPc.3991A>C (p.Thr1331Pro)
c.3877A>C (p.Thr1293Pro)
c.2626A>C (p.Thr876Pro)
n.455A>C
c.297A>C
n.73A>C
n.2928A>C
c.3946A>C (p.Thr1316Pro)
c.3574A>C (p.Thr1192Pro)
c.3937A>C (p.Thr1313Pro)
c.3238A>C (p.Thr1080Pro)
c.3985A>C (p.Thr1329Pro)
 dbSNP
16g.3740541T=CA2202940939CREBBPc.3991A= (p.Thr1331=)
c.3877A= (p.Thr1293=)
c.2626A= (p.Thr876=)
n.455A=
c.297A=
n.73A=
n.2928A=
c.3946A= (p.Thr1316=)
c.3574A= (p.Thr1192=)
c.3937A= (p.Thr1313=)
c.3238A= (p.Thr1080=)
c.3985A= (p.Thr1329=)
16g.3740542C>ACA394565509CREBBPc.3990G>T (p.Gln1330His)
c.3876G>T (p.Gln1292His)
c.2625G>T (p.Gln875His)
n.454G>T
c.296G>T
n.72G>T
n.2927G>T
c.3945G>T (p.Gln1315His)
c.3573G>T (p.Gln1191His)
c.3936G>T (p.Gln1312His)
c.3237G>T (p.Gln1079His)
c.3984G>T (p.Gln1328His)
 dbSNP
16g.3740542C>GCA394565510CREBBPc.3990G>C (p.Gln1330His)
c.3876G>C (p.Gln1292His)
c.2625G>C (p.Gln875His)
n.454G>C
c.296G>C
n.72G>C
n.2927G>C
c.3945G>C (p.Gln1315His)
c.3573G>C (p.Gln1191His)
c.3936G>C (p.Gln1312His)
c.3237G>C (p.Gln1079His)
c.3984G>C (p.Gln1328His)
 dbSNP
16g.3740542C>TCA493280546CREBBPc.3990G>A (p.Gln1330=)
c.3876G>A (p.Gln1292=)
c.2625G>A (p.Gln875=)
n.454G>A
c.296G>A
n.72G>A
n.2927G>A
c.3945G>A (p.Gln1315=)
c.3573G>A (p.Gln1191=)
c.3936G>A (p.Gln1312=)
c.3237G>A (p.Gln1079=)
c.3984G>A (p.Gln1328=)
 dbSNP

Number of alleles fetched