Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3736616_3736636delinsACAAAAGCCACCACCTTCCTTCA2202936484CREBBPc.4560+14_4560+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4560+14_4560+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.4446+14_4446+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4446+14_4446+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.3195+14_3195+34delinsAAGGAAGGTGGTGGCTTTTGT (n.3195+14_3195+34delinsAAGGAAGGTGGTGGCTTTTGT)
n.350+14_350+34delinsAAGGAAGGTGGTGGCTTTTGT
n.395_415delinsAAGGAAGGTGGTGGCTTTTGT
n.3383+14_3383+34delinsAAGGAAGGTGGTGGCTTTTGT
c.4515+14_4515+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4515+14_4515+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.4143+14_4143+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4143+14_4143+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.4299+14_4299+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4299+14_4299+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.4506+14_4506+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4506+14_4506+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.3807+14_3807+34delinsAAGGAAGGTGGTGGCTTTTGT (n.3807+14_3807+34delinsAAGGAAGGTGGTGGCTTTTGT)
c.4554+14_4554+34delinsAAGGAAGGTGGTGGCTTTTGT (n.4554+14_4554+34delinsAAGGAAGGTGGTGGCTTTTGT)
16g.3736619_3736638delCA973906933CREBBPc.4560+14_4560+33del (n.4560+14_4560+33del)
c.4446+14_4446+33del (n.4446+14_4446+33del)
c.3195+14_3195+33del (n.3195+14_3195+33del)
n.350+14_350+33del
n.395_414del
n.3383+14_3383+33del
c.4515+14_4515+33del (n.4515+14_4515+33del)
c.4143+14_4143+33del (n.4143+14_4143+33del)
c.4299+14_4299+33del (n.4299+14_4299+33del)
c.4506+14_4506+33del (n.4506+14_4506+33del)
c.3807+14_3807+33del (n.3807+14_3807+33del)
c.4554+14_4554+33del (n.4554+14_4554+33del)
dbSNP gnomAD v3 gnomAD v4
16g.3736626C>ACA720725220CREBBPc.4560+24G>T (n.4560+24G>T)
c.4446+24G>T (n.4446+24G>T)
c.3195+24G>T (n.3195+24G>T)
n.350+24G>T
n.405G>T
n.3383+24G>T
c.4515+24G>T (n.4515+24G>T)
c.4143+24G>T (n.4143+24G>T)
c.4299+24G>T (n.4299+24G>T)
c.4506+24G>T (n.4506+24G>T)
c.3807+24G>T (n.3807+24G>T)
c.4554+24G>T (n.4554+24G>T)
dbSNP gnomAD v4
16g.3736626C=CA2202936493CREBBPc.4560+24G= (n.4560+24G=)
c.4446+24G= (n.4446+24G=)
c.3195+24G= (n.3195+24G=)
n.350+24G=
n.405G=
n.3383+24G=
c.4515+24G= (n.4515+24G=)
c.4143+24G= (n.4143+24G=)
c.4299+24G= (n.4299+24G=)
c.4506+24G= (n.4506+24G=)
c.3807+24G= (n.3807+24G=)
c.4554+24G= (n.4554+24G=)
16g.3736626C>GCA2731608570CREBBPc.4560+24G>C (n.4560+24G>C)
c.4446+24G>C (n.4446+24G>C)
c.3195+24G>C (n.3195+24G>C)
n.350+24G>C
n.405G>C
n.3383+24G>C
c.4515+24G>C (n.4515+24G>C)
c.4143+24G>C (n.4143+24G>C)
c.4299+24G>C (n.4299+24G>C)
c.4506+24G>C (n.4506+24G>C)
c.3807+24G>C (n.3807+24G>C)
c.4554+24G>C (n.4554+24G>C)
dbSNP
16g.3736626C>TCA620714588CREBBPc.4560+24G>A (n.4560+24G>A)
c.4446+24G>A (n.4446+24G>A)
c.3195+24G>A (n.3195+24G>A)
n.350+24G>A
n.405G>A
n.3383+24G>A
c.4515+24G>A (n.4515+24G>A)
c.4143+24G>A (n.4143+24G>A)
c.4299+24G>A (n.4299+24G>A)
c.4506+24G>A (n.4506+24G>A)
c.3807+24G>A (n.3807+24G>A)
c.4554+24G>A (n.4554+24G>A)
dbSNP gnomAD v2 gnomAD v4
16g.3736627C>ACA2731849726CREBBPc.4560+23G>T (n.4560+23G>T)
c.4446+23G>T (n.4446+23G>T)
c.3195+23G>T (n.3195+23G>T)
n.350+23G>T
n.404G>T
n.3383+23G>T
c.4515+23G>T (n.4515+23G>T)
c.4143+23G>T (n.4143+23G>T)
c.4299+23G>T (n.4299+23G>T)
c.4506+23G>T (n.4506+23G>T)
c.3807+23G>T (n.3807+23G>T)
c.4554+23G>T (n.4554+23G>T)
dbSNP
16g.3736627C>TCA2731849698CREBBPc.4560+23G>A (n.4560+23G>A)
c.4446+23G>A (n.4446+23G>A)
c.3195+23G>A (n.3195+23G>A)
n.350+23G>A
n.404G>A
n.3383+23G>A
c.4515+23G>A (n.4515+23G>A)
c.4143+23G>A (n.4143+23G>A)
c.4299+23G>A (n.4299+23G>A)
c.4506+23G>A (n.4506+23G>A)
c.3807+23G>A (n.3807+23G>A)
c.4554+23G>A (n.4554+23G>A)
dbSNP
16g.3736628A>GCA2631401575CREBBPc.4560+22T>C (n.4560+22T>C)
c.4446+22T>C (n.4446+22T>C)
c.3195+22T>C (n.3195+22T>C)
n.350+22T>C
n.403T>C
n.3383+22T>C
c.4515+22T>C (n.4515+22T>C)
c.4143+22T>C (n.4143+22T>C)
c.4299+22T>C (n.4299+22T>C)
c.4506+22T>C (n.4506+22T>C)
c.3807+22T>C (n.3807+22T>C)
c.4554+22T>C (n.4554+22T>C)
gnomAD v4
16g.3736628A>TCA2731849731CREBBPc.4560+22T>A (n.4560+22T>A)
c.4446+22T>A (n.4446+22T>A)
c.3195+22T>A (n.3195+22T>A)
n.350+22T>A
n.403T>A
n.3383+22T>A
c.4515+22T>A (n.4515+22T>A)
c.4143+22T>A (n.4143+22T>A)
c.4299+22T>A (n.4299+22T>A)
c.4506+22T>A (n.4506+22T>A)
c.3807+22T>A (n.3807+22T>A)
c.4554+22T>A (n.4554+22T>A)
dbSNP
16g.3736629C>ACA7869503CREBBPc.4560+21G>T (n.4560+21G>T)
c.4446+21G>T (n.4446+21G>T)
c.3195+21G>T (n.3195+21G>T)
n.350+21G>T
n.402G>T
n.3383+21G>T
c.4515+21G>T (n.4515+21G>T)
c.4143+21G>T (n.4143+21G>T)
c.4299+21G>T (n.4299+21G>T)
c.4506+21G>T (n.4506+21G>T)
c.3807+21G>T (n.3807+21G>T)
c.4554+21G>T (n.4554+21G>T)
dbSNP ExAC
16g.3736629C=CA2202936497CREBBPc.4560+21G= (n.4560+21G=)
c.4446+21G= (n.4446+21G=)
c.3195+21G= (n.3195+21G=)
n.350+21G=
n.402G=
n.3383+21G=
c.4515+21G= (n.4515+21G=)
c.4143+21G= (n.4143+21G=)
c.4299+21G= (n.4299+21G=)
c.4506+21G= (n.4506+21G=)
c.3807+21G= (n.3807+21G=)
c.4554+21G= (n.4554+21G=)
16g.3736629C>GCA2731577953CREBBPc.4560+21G>C (n.4560+21G>C)
c.4446+21G>C (n.4446+21G>C)
c.3195+21G>C (n.3195+21G>C)
n.350+21G>C
n.402G>C
n.3383+21G>C
c.4515+21G>C (n.4515+21G>C)
c.4143+21G>C (n.4143+21G>C)
c.4299+21G>C (n.4299+21G>C)
c.4506+21G>C (n.4506+21G>C)
c.3807+21G>C (n.3807+21G>C)
c.4554+21G>C (n.4554+21G>C)
dbSNP
16g.3736629C>TCA2731577954CREBBPc.4560+21G>A (n.4560+21G>A)
c.4446+21G>A (n.4446+21G>A)
c.3195+21G>A (n.3195+21G>A)
n.350+21G>A
n.402G>A
n.3383+21G>A
c.4515+21G>A (n.4515+21G>A)
c.4143+21G>A (n.4143+21G>A)
c.4299+21G>A (n.4299+21G>A)
c.4506+21G>A (n.4506+21G>A)
c.3807+21G>A (n.3807+21G>A)
c.4554+21G>A (n.4554+21G>A)
dbSNP
16g.3736630C>ACA2631401577CREBBPc.4560+20G>T (n.4560+20G>T)
c.4446+20G>T (n.4446+20G>T)
c.3195+20G>T (n.3195+20G>T)
n.350+20G>T
n.401G>T
n.3383+20G>T
c.4515+20G>T (n.4515+20G>T)
c.4143+20G>T (n.4143+20G>T)
c.4299+20G>T (n.4299+20G>T)
c.4506+20G>T (n.4506+20G>T)
c.3807+20G>T (n.3807+20G>T)
c.4554+20G>T (n.4554+20G>T)
ClinVar dbSNP gnomAD v4
16g.3736630C=CA2202936500CREBBPc.4560+20G= (n.4560+20G=)
c.4446+20G= (n.4446+20G=)
c.3195+20G= (n.3195+20G=)
n.350+20G=
n.401G=
n.3383+20G=
c.4515+20G= (n.4515+20G=)
c.4143+20G= (n.4143+20G=)
c.4299+20G= (n.4299+20G=)
c.4506+20G= (n.4506+20G=)
c.3807+20G= (n.3807+20G=)
c.4554+20G= (n.4554+20G=)
16g.3736630C>GCA2631401578CREBBPc.4560+20G>C (n.4560+20G>C)
c.4446+20G>C (n.4446+20G>C)
c.3195+20G>C (n.3195+20G>C)
n.350+20G>C
n.401G>C
n.3383+20G>C
c.4515+20G>C (n.4515+20G>C)
c.4143+20G>C (n.4143+20G>C)
c.4299+20G>C (n.4299+20G>C)
c.4506+20G>C (n.4506+20G>C)
c.3807+20G>C (n.3807+20G>C)
c.4554+20G>C (n.4554+20G>C)
dbSNP gnomAD v4
16g.3736630C>TCA720725231CREBBPc.4560+20G>A (n.4560+20G>A)
c.4446+20G>A (n.4446+20G>A)
c.3195+20G>A (n.3195+20G>A)
n.350+20G>A
n.401G>A
n.3383+20G>A
c.4515+20G>A (n.4515+20G>A)
c.4143+20G>A (n.4143+20G>A)
c.4299+20G>A (n.4299+20G>A)
c.4506+20G>A (n.4506+20G>A)
c.3807+20G>A (n.3807+20G>A)
c.4554+20G>A (n.4554+20G>A)
dbSNP
16g.3736631T>ACA2731849737CREBBPc.4560+19A>T (n.4560+19A>T)
c.4446+19A>T (n.4446+19A>T)
c.3195+19A>T (n.3195+19A>T)
n.350+19A>T
n.400A>T
n.3383+19A>T
c.4515+19A>T (n.4515+19A>T)
c.4143+19A>T (n.4143+19A>T)
c.4299+19A>T (n.4299+19A>T)
c.4506+19A>T (n.4506+19A>T)
c.3807+19A>T (n.3807+19A>T)
c.4554+19A>T (n.4554+19A>T)
dbSNP
16g.3736631T>CCA2731849733CREBBPc.4560+19A>G (n.4560+19A>G)
c.4446+19A>G (n.4446+19A>G)
c.3195+19A>G (n.3195+19A>G)
n.350+19A>G
n.400A>G
n.3383+19A>G
c.4515+19A>G (n.4515+19A>G)
c.4143+19A>G (n.4143+19A>G)
c.4299+19A>G (n.4299+19A>G)
c.4506+19A>G (n.4506+19A>G)
c.3807+19A>G (n.3807+19A>G)
c.4554+19A>G (n.4554+19A>G)
dbSNP
16g.3736632T>CCA7869504CREBBPc.4560+18A>G (n.4560+18A>G)
c.4446+18A>G (n.4446+18A>G)
c.3195+18A>G (n.3195+18A>G)
n.350+18A>G
n.399A>G
n.3383+18A>G
c.4515+18A>G (n.4515+18A>G)
c.4143+18A>G (n.4143+18A>G)
c.4299+18A>G (n.4299+18A>G)
c.4506+18A>G (n.4506+18A>G)
c.3807+18A>G (n.3807+18A>G)
c.4554+18A>G (n.4554+18A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3736632T>GCA620714589CREBBPc.4560+18A>C (n.4560+18A>C)
c.4446+18A>C (n.4446+18A>C)
c.3195+18A>C (n.3195+18A>C)
n.350+18A>C
n.399A>C
n.3383+18A>C
c.4515+18A>C (n.4515+18A>C)
c.4143+18A>C (n.4143+18A>C)
c.4299+18A>C (n.4299+18A>C)
c.4506+18A>C (n.4506+18A>C)
c.3807+18A>C (n.3807+18A>C)
c.4554+18A>C (n.4554+18A>C)
dbSNP gnomAD v2 gnomAD v4
16g.3736632T=CA2202936502CREBBPc.4560+18A= (n.4560+18A=)
c.4446+18A= (n.4446+18A=)
c.3195+18A= (n.3195+18A=)
n.350+18A=
n.399A=
n.3383+18A=
c.4515+18A= (n.4515+18A=)
c.4143+18A= (n.4143+18A=)
c.4299+18A= (n.4299+18A=)
c.4506+18A= (n.4506+18A=)
c.3807+18A= (n.3807+18A=)
c.4554+18A= (n.4554+18A=)
16g.3736633C>ACA2731849754CREBBPc.4560+17G>T (n.4560+17G>T)
c.4446+17G>T (n.4446+17G>T)
c.3195+17G>T (n.3195+17G>T)
n.350+17G>T
n.398G>T
n.3383+17G>T
c.4515+17G>T (n.4515+17G>T)
c.4143+17G>T (n.4143+17G>T)
c.4299+17G>T (n.4299+17G>T)
c.4506+17G>T (n.4506+17G>T)
c.3807+17G>T (n.3807+17G>T)
c.4554+17G>T (n.4554+17G>T)
dbSNP
16g.3736633C>GCA2731849752CREBBPc.4560+17G>C (n.4560+17G>C)
c.4446+17G>C (n.4446+17G>C)
c.3195+17G>C (n.3195+17G>C)
n.350+17G>C
n.398G>C
n.3383+17G>C
c.4515+17G>C (n.4515+17G>C)
c.4143+17G>C (n.4143+17G>C)
c.4299+17G>C (n.4299+17G>C)
c.4506+17G>C (n.4506+17G>C)
c.3807+17G>C (n.3807+17G>C)
c.4554+17G>C (n.4554+17G>C)
dbSNP
16g.3736633C>TCA2731849768CREBBPc.4560+17G>A (n.4560+17G>A)
c.4446+17G>A (n.4446+17G>A)
c.3195+17G>A (n.3195+17G>A)
n.350+17G>A
n.398G>A
n.3383+17G>A
c.4515+17G>A (n.4515+17G>A)
c.4143+17G>A (n.4143+17G>A)
c.4299+17G>A (n.4299+17G>A)
c.4506+17G>A (n.4506+17G>A)
c.3807+17G>A (n.3807+17G>A)
c.4554+17G>A (n.4554+17G>A)
dbSNP
16g.3736634C=CA2202936505CREBBPc.4560+16G= (n.4560+16G=)
c.4446+16G= (n.4446+16G=)
c.3195+16G= (n.3195+16G=)
n.350+16G=
n.397G=
n.3383+16G=
c.4515+16G= (n.4515+16G=)
c.4143+16G= (n.4143+16G=)
c.4299+16G= (n.4299+16G=)
c.4506+16G= (n.4506+16G=)
c.3807+16G= (n.3807+16G=)
c.4554+16G= (n.4554+16G=)
16g.3736634C>TCA720725238CREBBPc.4560+16G>A (n.4560+16G>A)
c.4446+16G>A (n.4446+16G>A)
c.3195+16G>A (n.3195+16G>A)
n.350+16G>A
n.397G>A
n.3383+16G>A
c.4515+16G>A (n.4515+16G>A)
c.4143+16G>A (n.4143+16G>A)
c.4299+16G>A (n.4299+16G>A)
c.4506+16G>A (n.4506+16G>A)
c.3807+16G>A (n.3807+16G>A)
c.4554+16G>A (n.4554+16G>A)
dbSNP gnomAD v3 gnomAD v4
16g.3736635T>ACA2731849770CREBBPc.4560+15A>T (n.4560+15A>T)
c.4446+15A>T (n.4446+15A>T)
c.3195+15A>T (n.3195+15A>T)
n.350+15A>T
n.396A>T
n.3383+15A>T
c.4515+15A>T (n.4515+15A>T)
c.4143+15A>T (n.4143+15A>T)
c.4299+15A>T (n.4299+15A>T)
c.4506+15A>T (n.4506+15A>T)
c.3807+15A>T (n.3807+15A>T)
c.4554+15A>T (n.4554+15A>T)
dbSNP
16g.3736635T>CCA2731849771CREBBPc.4560+15A>G (n.4560+15A>G)
c.4446+15A>G (n.4446+15A>G)
c.3195+15A>G (n.3195+15A>G)
n.350+15A>G
n.396A>G
n.3383+15A>G
c.4515+15A>G (n.4515+15A>G)
c.4143+15A>G (n.4143+15A>G)
c.4299+15A>G (n.4299+15A>G)
c.4506+15A>G (n.4506+15A>G)
c.3807+15A>G (n.3807+15A>G)
c.4554+15A>G (n.4554+15A>G)
dbSNP
16g.3736636T>ACA2731570842CREBBPc.4560+14A>T (n.4560+14A>T)
c.4446+14A>T (n.4446+14A>T)
c.3195+14A>T (n.3195+14A>T)
n.350+14A>T
n.395A>T
n.3383+14A>T
c.4515+14A>T (n.4515+14A>T)
c.4143+14A>T (n.4143+14A>T)
c.4299+14A>T (n.4299+14A>T)
c.4506+14A>T (n.4506+14A>T)
c.3807+14A>T (n.3807+14A>T)
c.4554+14A>T (n.4554+14A>T)
dbSNP
16g.3736636T>CCA171795CREBBPc.4560+14A>G (n.4560+14A>G)
c.4446+14A>G (n.4446+14A>G)
c.3195+14A>G (n.3195+14A>G)
n.350+14A>G
n.395A>G
n.3383+14A>G
c.4515+14A>G (n.4515+14A>G)
c.4143+14A>G (n.4143+14A>G)
c.4299+14A>G (n.4299+14A>G)
c.4506+14A>G (n.4506+14A>G)
c.3807+14A>G (n.3807+14A>G)
c.4554+14A>G (n.4554+14A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736636T=CA2202936509CREBBPc.4560+14A= (n.4560+14A=)
c.4446+14A= (n.4446+14A=)
c.3195+14A= (n.3195+14A=)
n.350+14A=
n.395A=
n.3383+14A=
c.4515+14A= (n.4515+14A=)
c.4143+14A= (n.4143+14A=)
c.4299+14A= (n.4299+14A=)
c.4506+14A= (n.4506+14A=)
c.3807+14A= (n.3807+14A=)
c.4554+14A= (n.4554+14A=)
16g.3736637C>ACA2731849774CREBBPc.4560+13G>T (n.4560+13G>T)
c.4446+13G>T (n.4446+13G>T)
c.3195+13G>T (n.3195+13G>T)
n.350+13G>T
n.394G>T
n.3383+13G>T
c.4515+13G>T (n.4515+13G>T)
c.4143+13G>T (n.4143+13G>T)
c.4299+13G>T (n.4299+13G>T)
c.4506+13G>T (n.4506+13G>T)
c.3807+13G>T (n.3807+13G>T)
c.4554+13G>T (n.4554+13G>T)
dbSNP
16g.3736637C>GCA2731849787CREBBPc.4560+13G>C (n.4560+13G>C)
c.4446+13G>C (n.4446+13G>C)
c.3195+13G>C (n.3195+13G>C)
n.350+13G>C
n.394G>C
n.3383+13G>C
c.4515+13G>C (n.4515+13G>C)
c.4143+13G>C (n.4143+13G>C)
c.4299+13G>C (n.4299+13G>C)
c.4506+13G>C (n.4506+13G>C)
c.3807+13G>C (n.3807+13G>C)
c.4554+13G>C (n.4554+13G>C)
dbSNP
16g.3736637C>TCA2631401586CREBBPc.4560+13G>A (n.4560+13G>A)
c.4446+13G>A (n.4446+13G>A)
c.3195+13G>A (n.3195+13G>A)
n.350+13G>A
n.394G>A
n.3383+13G>A
c.4515+13G>A (n.4515+13G>A)
c.4143+13G>A (n.4143+13G>A)
c.4299+13G>A (n.4299+13G>A)
c.4506+13G>A (n.4506+13G>A)
c.3807+13G>A (n.3807+13G>A)
c.4554+13G>A (n.4554+13G>A)
dbSNP gnomAD v4
16g.3736638A=CA2202936514CREBBPc.4560+12T= (n.4560+12T=)
c.4446+12T= (n.4446+12T=)
c.3195+12T= (n.3195+12T=)
n.350+12T=
n.393T=
n.3383+12T=
c.4515+12T= (n.4515+12T=)
c.4143+12T= (n.4143+12T=)
c.4299+12T= (n.4299+12T=)
c.4506+12T= (n.4506+12T=)
c.3807+12T= (n.3807+12T=)
c.4554+12T= (n.4554+12T=)
16g.3736638A>CCA276979988CREBBPc.4560+12T>G (n.4560+12T>G)
c.4446+12T>G (n.4446+12T>G)
c.3195+12T>G (n.3195+12T>G)
n.350+12T>G
n.393T>G
n.3383+12T>G
c.4515+12T>G (n.4515+12T>G)
c.4143+12T>G (n.4143+12T>G)
c.4299+12T>G (n.4299+12T>G)
c.4506+12T>G (n.4506+12T>G)
c.3807+12T>G (n.3807+12T>G)
c.4554+12T>G (n.4554+12T>G)
dbSNP
16g.3736638A>GCA2731567158CREBBPc.4560+12T>C (n.4560+12T>C)
c.4446+12T>C (n.4446+12T>C)
c.3195+12T>C (n.3195+12T>C)
n.350+12T>C
n.393T>C
n.3383+12T>C
c.4515+12T>C (n.4515+12T>C)
c.4143+12T>C (n.4143+12T>C)
c.4299+12T>C (n.4299+12T>C)
c.4506+12T>C (n.4506+12T>C)
c.3807+12T>C (n.3807+12T>C)
c.4554+12T>C (n.4554+12T>C)
dbSNP
16g.3736638A>TCA2731567157CREBBPc.4560+12T>A (n.4560+12T>A)
c.4446+12T>A (n.4446+12T>A)
c.3195+12T>A (n.3195+12T>A)
n.350+12T>A
n.393T>A
n.3383+12T>A
c.4515+12T>A (n.4515+12T>A)
c.4143+12T>A (n.4143+12T>A)
c.4299+12T>A (n.4299+12T>A)
c.4506+12T>A (n.4506+12T>A)
c.3807+12T>A (n.3807+12T>A)
c.4554+12T>A (n.4554+12T>A)
dbSNP
16g.3736639G>ACA2631401589CREBBPc.4560+11C>T (n.4560+11C>T)
c.4446+11C>T (n.4446+11C>T)
c.3195+11C>T (n.3195+11C>T)
n.350+11C>T
n.392C>T
n.3383+11C>T
c.4515+11C>T (n.4515+11C>T)
c.4143+11C>T (n.4143+11C>T)
c.4299+11C>T (n.4299+11C>T)
c.4506+11C>T (n.4506+11C>T)
c.3807+11C>T (n.3807+11C>T)
c.4554+11C>T (n.4554+11C>T)
dbSNP gnomAD v4
16g.3736639G>CCA7869505CREBBPc.4560+11C>G (n.4560+11C>G)
c.4446+11C>G (n.4446+11C>G)
c.3195+11C>G (n.3195+11C>G)
n.350+11C>G
n.392C>G
n.3383+11C>G
c.4515+11C>G (n.4515+11C>G)
c.4143+11C>G (n.4143+11C>G)
c.4299+11C>G (n.4299+11C>G)
c.4506+11C>G (n.4506+11C>G)
c.3807+11C>G (n.3807+11C>G)
c.4554+11C>G (n.4554+11C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.3736639G=CA2202936519CREBBPc.4560+11C= (n.4560+11C=)
c.4446+11C= (n.4446+11C=)
c.3195+11C= (n.3195+11C=)
n.350+11C=
n.392C=
n.3383+11C=
c.4515+11C= (n.4515+11C=)
c.4143+11C= (n.4143+11C=)
c.4299+11C= (n.4299+11C=)
c.4506+11C= (n.4506+11C=)
c.3807+11C= (n.3807+11C=)
c.4554+11C= (n.4554+11C=)
16g.3736639G>TCA276979991CREBBPc.4560+11C>A (n.4560+11C>A)
c.4446+11C>A (n.4446+11C>A)
c.3195+11C>A (n.3195+11C>A)
n.350+11C>A
n.392C>A
n.3383+11C>A
c.4515+11C>A (n.4515+11C>A)
c.4143+11C>A (n.4143+11C>A)
c.4299+11C>A (n.4299+11C>A)
c.4506+11C>A (n.4506+11C>A)
c.3807+11C>A (n.3807+11C>A)
c.4554+11C>A (n.4554+11C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3736640C>ACA2731576855CREBBPc.4560+10G>T (n.4560+10G>T)
c.4446+10G>T (n.4446+10G>T)
c.3195+10G>T (n.3195+10G>T)
n.350+10G>T
n.391G>T
n.3383+10G>T
c.4515+10G>T (n.4515+10G>T)
c.4143+10G>T (n.4143+10G>T)
c.4299+10G>T (n.4299+10G>T)
c.4506+10G>T (n.4506+10G>T)
c.3807+10G>T (n.3807+10G>T)
c.4554+10G>T (n.4554+10G>T)
dbSNP
16g.3736640C=CA2202936522CREBBPc.4560+10G= (n.4560+10G=)
c.4446+10G= (n.4446+10G=)
c.3195+10G= (n.3195+10G=)
n.350+10G=
n.391G=
n.3383+10G=
c.4515+10G= (n.4515+10G=)
c.4143+10G= (n.4143+10G=)
c.4299+10G= (n.4299+10G=)
c.4506+10G= (n.4506+10G=)
c.3807+10G= (n.3807+10G=)
c.4554+10G= (n.4554+10G=)
16g.3736640C>GCA2731576851CREBBPc.4560+10G>C (n.4560+10G>C)
c.4446+10G>C (n.4446+10G>C)
c.3195+10G>C (n.3195+10G>C)
n.350+10G>C
n.391G>C
n.3383+10G>C
c.4515+10G>C (n.4515+10G>C)
c.4143+10G>C (n.4143+10G>C)
c.4299+10G>C (n.4299+10G>C)
c.4506+10G>C (n.4506+10G>C)
c.3807+10G>C (n.3807+10G>C)
c.4554+10G>C (n.4554+10G>C)
dbSNP
16g.3736640C>TCA7869506CREBBPc.4560+10G>A (n.4560+10G>A)
c.4446+10G>A (n.4446+10G>A)
c.3195+10G>A (n.3195+10G>A)
n.350+10G>A
n.391G>A
n.3383+10G>A
c.4515+10G>A (n.4515+10G>A)
c.4143+10G>A (n.4143+10G>A)
c.4299+10G>A (n.4299+10G>A)
c.4506+10G>A (n.4506+10G>A)
c.3807+10G>A (n.3807+10G>A)
c.4554+10G>A (n.4554+10G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736640_3736643dupCA2631401594CREBBPc.4560+7_4560+10dup (n.4560+7_4560+10dup)
c.4446+7_4446+10dup (n.4446+7_4446+10dup)
c.3195+7_3195+10dup (n.3195+7_3195+10dup)
n.350+7_350+10dup
n.388_391dup
n.3383+7_3383+10dup
c.4515+7_4515+10dup (n.4515+7_4515+10dup)
c.4143+7_4143+10dup (n.4143+7_4143+10dup)
c.4299+7_4299+10dup (n.4299+7_4299+10dup)
c.4506+7_4506+10dup (n.4506+7_4506+10dup)
c.3807+7_3807+10dup (n.3807+7_3807+10dup)
c.4554+7_4554+10dup (n.4554+7_4554+10dup)
gnomAD v4
16g.3736641G>ACA7869507CREBBPc.4560+9C>T (n.4560+9C>T)
c.4446+9C>T (n.4446+9C>T)
c.3195+9C>T (n.3195+9C>T)
n.350+9C>T
n.390C>T
n.3383+9C>T
c.4515+9C>T (n.4515+9C>T)
c.4143+9C>T (n.4143+9C>T)
c.4299+9C>T (n.4299+9C>T)
c.4506+9C>T (n.4506+9C>T)
c.3807+9C>T (n.3807+9C>T)
c.4554+9C>T (n.4554+9C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736641G>CCA2731570843CREBBPc.4560+9C>G (n.4560+9C>G)
c.4446+9C>G (n.4446+9C>G)
c.3195+9C>G (n.3195+9C>G)
n.350+9C>G
n.390C>G
n.3383+9C>G
c.4515+9C>G (n.4515+9C>G)
c.4143+9C>G (n.4143+9C>G)
c.4299+9C>G (n.4299+9C>G)
c.4506+9C>G (n.4506+9C>G)
c.3807+9C>G (n.3807+9C>G)
c.4554+9C>G (n.4554+9C>G)
dbSNP
16g.3736641G=CA2202936524CREBBPc.4560+9C= (n.4560+9C=)
c.4446+9C= (n.4446+9C=)
c.3195+9C= (n.3195+9C=)
n.350+9C=
n.390C=
n.3383+9C=
c.4515+9C= (n.4515+9C=)
c.4143+9C= (n.4143+9C=)
c.4299+9C= (n.4299+9C=)
c.4506+9C= (n.4506+9C=)
c.3807+9C= (n.3807+9C=)
c.4554+9C= (n.4554+9C=)
16g.3736641G>TCA2731570844CREBBPc.4560+9C>A (n.4560+9C>A)
c.4446+9C>A (n.4446+9C>A)
c.3195+9C>A (n.3195+9C>A)
n.350+9C>A
n.390C>A
n.3383+9C>A
c.4515+9C>A (n.4515+9C>A)
c.4143+9C>A (n.4143+9C>A)
c.4299+9C>A (n.4299+9C>A)
c.4506+9C>A (n.4506+9C>A)
c.3807+9C>A (n.3807+9C>A)
c.4554+9C>A (n.4554+9C>A)
dbSNP
16g.3736642C>GCA2731849840CREBBPc.4560+8G>C (n.4560+8G>C)
c.4446+8G>C (n.4446+8G>C)
c.3195+8G>C (n.3195+8G>C)
n.350+8G>C
n.389G>C
n.3383+8G>C
c.4515+8G>C (n.4515+8G>C)
c.4143+8G>C (n.4143+8G>C)
c.4299+8G>C (n.4299+8G>C)
c.4506+8G>C (n.4506+8G>C)
c.3807+8G>C (n.3807+8G>C)
c.4554+8G>C (n.4554+8G>C)
dbSNP
16g.3736642C>TCA2731849832CREBBPc.4560+8G>A (n.4560+8G>A)
c.4446+8G>A (n.4446+8G>A)
c.3195+8G>A (n.3195+8G>A)
n.350+8G>A
n.389G>A
n.3383+8G>A
c.4515+8G>A (n.4515+8G>A)
c.4143+8G>A (n.4143+8G>A)
c.4299+8G>A (n.4299+8G>A)
c.4506+8G>A (n.4506+8G>A)
c.3807+8G>A (n.3807+8G>A)
c.4554+8G>A (n.4554+8G>A)
dbSNP
16g.3736645_3736670delCA2739290734CREBBPc.4543_4560+8del
c.4429_4446+8del
c.3178_3195+8del
n.333_350+8del
n.364_389del
n.3366_3383+8del
c.4498_4515+8del
c.4126_4143+8del
c.4282_4299+8del
c.4489_4506+8del
c.3790_3807+8del
c.4537_4554+8del
16g.3736643C=CA2202936530CREBBPc.4560+7G= (n.4560+7G=)
c.4446+7G= (n.4446+7G=)
c.3195+7G= (n.3195+7G=)
n.350+7G=
n.388G=
n.3383+7G=
c.4515+7G= (n.4515+7G=)
c.4143+7G= (n.4143+7G=)
c.4299+7G= (n.4299+7G=)
c.4506+7G= (n.4506+7G=)
c.3807+7G= (n.3807+7G=)
c.4554+7G= (n.4554+7G=)
16g.3736643C>GCA7869508CREBBPc.4560+7G>C (n.4560+7G>C)
c.4446+7G>C (n.4446+7G>C)
c.3195+7G>C (n.3195+7G>C)
n.350+7G>C
n.388G>C
n.3383+7G>C
c.4515+7G>C (n.4515+7G>C)
c.4143+7G>C (n.4143+7G>C)
c.4299+7G>C (n.4299+7G>C)
c.4506+7G>C (n.4506+7G>C)
c.3807+7G>C (n.3807+7G>C)
c.4554+7G>C (n.4554+7G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736643C>TCA171796CREBBPc.4560+7G>A (n.4560+7G>A)
c.4446+7G>A (n.4446+7G>A)
c.3195+7G>A (n.3195+7G>A)
n.350+7G>A
n.388G>A
n.3383+7G>A
c.4515+7G>A (n.4515+7G>A)
c.4143+7G>A (n.4143+7G>A)
c.4299+7G>A (n.4299+7G>A)
c.4506+7G>A (n.4506+7G>A)
c.3807+7G>A (n.3807+7G>A)
c.4554+7G>A (n.4554+7G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736644G>ACA7869509CREBBPc.4560+6C>T (n.4560+6C>T)
c.4446+6C>T (n.4446+6C>T)
c.3195+6C>T (n.3195+6C>T)
n.350+6C>T
n.387C>T
n.3383+6C>T
c.4515+6C>T (n.4515+6C>T)
c.4143+6C>T (n.4143+6C>T)
c.4299+6C>T (n.4299+6C>T)
c.4506+6C>T (n.4506+6C>T)
c.3807+6C>T (n.3807+6C>T)
c.4554+6C>T (n.4554+6C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736644G>CCA2631401606CREBBPc.4560+6C>G (n.4560+6C>G)
c.4446+6C>G (n.4446+6C>G)
c.3195+6C>G (n.3195+6C>G)
n.350+6C>G
n.387C>G
n.3383+6C>G
c.4515+6C>G (n.4515+6C>G)
c.4143+6C>G (n.4143+6C>G)
c.4299+6C>G (n.4299+6C>G)
c.4506+6C>G (n.4506+6C>G)
c.3807+6C>G (n.3807+6C>G)
c.4554+6C>G (n.4554+6C>G)
dbSNP gnomAD v4
16g.3736644G=CA2202936538CREBBPc.4560+6C= (n.4560+6C=)
c.4446+6C= (n.4446+6C=)
c.3195+6C= (n.3195+6C=)
n.350+6C=
n.387C=
n.3383+6C=
c.4515+6C= (n.4515+6C=)
c.4143+6C= (n.4143+6C=)
c.4299+6C= (n.4299+6C=)
c.4506+6C= (n.4506+6C=)
c.3807+6C= (n.3807+6C=)
c.4554+6C= (n.4554+6C=)
16g.3736644G>TCA720725258CREBBPc.4560+6C>A (n.4560+6C>A)
c.4446+6C>A (n.4446+6C>A)
c.3195+6C>A (n.3195+6C>A)
n.350+6C>A
n.387C>A
n.3383+6C>A
c.4515+6C>A (n.4515+6C>A)
c.4143+6C>A (n.4143+6C>A)
c.4299+6C>A (n.4299+6C>A)
c.4506+6C>A (n.4506+6C>A)
c.3807+6C>A (n.3807+6C>A)
c.4554+6C>A (n.4554+6C>A)
dbSNP gnomAD v3 gnomAD v4
16g.3736646delCA2631401603CREBBPc.4560+6del (n.4560+6del)
c.4446+6del (n.4446+6del)
c.3195+6del (n.3195+6del)
n.350+6del
n.387del
n.3383+6del
c.4515+6del (n.4515+6del)
c.4143+6del (n.4143+6del)
c.4299+6del (n.4299+6del)
c.4506+6del (n.4506+6del)
c.3807+6del (n.3807+6del)
c.4554+6del (n.4554+6del)
gnomAD v4
16g.3736645G>ACA2631401609CREBBPc.4560+5C>T (n.4560+5C>T)
c.4446+5C>T (n.4446+5C>T)
c.3195+5C>T (n.3195+5C>T)
n.350+5C>T
n.386C>T
n.3383+5C>T
c.4515+5C>T (n.4515+5C>T)
c.4143+5C>T (n.4143+5C>T)
c.4299+5C>T (n.4299+5C>T)
c.4506+5C>T (n.4506+5C>T)
c.3807+5C>T (n.3807+5C>T)
c.4554+5C>T (n.4554+5C>T)
dbSNP gnomAD v4
16g.3736645G>CCA7869510CREBBPc.4560+5C>G (n.4560+5C>G)
c.4446+5C>G (n.4446+5C>G)
c.3195+5C>G (n.3195+5C>G)
n.350+5C>G
n.386C>G
n.3383+5C>G
c.4515+5C>G (n.4515+5C>G)
c.4143+5C>G (n.4143+5C>G)
c.4299+5C>G (n.4299+5C>G)
c.4506+5C>G (n.4506+5C>G)
c.3807+5C>G (n.3807+5C>G)
c.4554+5C>G (n.4554+5C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736645G=CA2202936540CREBBPc.4560+5C= (n.4560+5C=)
c.4446+5C= (n.4446+5C=)
c.3195+5C= (n.3195+5C=)
n.350+5C=
n.386C=
n.3383+5C=
c.4515+5C= (n.4515+5C=)
c.4143+5C= (n.4143+5C=)
c.4299+5C= (n.4299+5C=)
c.4506+5C= (n.4506+5C=)
c.3807+5C= (n.3807+5C=)
c.4554+5C= (n.4554+5C=)
16g.3736645G>TCA2731569877CREBBPc.4560+5C>A (n.4560+5C>A)
c.4446+5C>A (n.4446+5C>A)
c.3195+5C>A (n.3195+5C>A)
n.350+5C>A
n.386C>A
n.3383+5C>A
c.4515+5C>A (n.4515+5C>A)
c.4143+5C>A (n.4143+5C>A)
c.4299+5C>A (n.4299+5C>A)
c.4506+5C>A (n.4506+5C>A)
c.3807+5C>A (n.3807+5C>A)
c.4554+5C>A (n.4554+5C>A)
dbSNP
16g.3736646G>ACA2202936542CREBBPc.4560+4C>T (n.4560+4C>T)
c.4446+4C>T (n.4446+4C>T)
c.3195+4C>T (n.3195+4C>T)
n.350+4C>T
n.385C>T
n.3383+4C>T
c.4515+4C>T (n.4515+4C>T)
c.4143+4C>T (n.4143+4C>T)
c.4299+4C>T (n.4299+4C>T)
c.4506+4C>T (n.4506+4C>T)
c.3807+4C>T (n.3807+4C>T)
c.4554+4C>T (n.4554+4C>T)
dbSNP gnomAD v4
16g.3736646G>CCA2731630263CREBBPc.4560+4C>G (n.4560+4C>G)
c.4446+4C>G (n.4446+4C>G)
c.3195+4C>G (n.3195+4C>G)
n.350+4C>G
n.385C>G
n.3383+4C>G
c.4515+4C>G (n.4515+4C>G)
c.4143+4C>G (n.4143+4C>G)
c.4299+4C>G (n.4299+4C>G)
c.4506+4C>G (n.4506+4C>G)
c.3807+4C>G (n.3807+4C>G)
c.4554+4C>G (n.4554+4C>G)
dbSNP
16g.3736646G=CA2202936541CREBBPc.4560+4C= (n.4560+4C=)
c.4446+4C= (n.4446+4C=)
c.3195+4C= (n.3195+4C=)
n.350+4C=
n.385C=
n.3383+4C=
c.4515+4C= (n.4515+4C=)
c.4143+4C= (n.4143+4C=)
c.4299+4C= (n.4299+4C=)
c.4506+4C= (n.4506+4C=)
c.3807+4C= (n.3807+4C=)
c.4554+4C= (n.4554+4C=)
16g.3736647T>ACA2731849843CREBBPc.4560+3A>T (n.4560+3A>T)
c.4446+3A>T (n.4446+3A>T)
c.3195+3A>T (n.3195+3A>T)
n.350+3A>T
n.384A>T
n.3383+3A>T
c.4515+3A>T (n.4515+3A>T)
c.4143+3A>T (n.4143+3A>T)
c.4299+3A>T (n.4299+3A>T)
c.4506+3A>T (n.4506+3A>T)
c.3807+3A>T (n.3807+3A>T)
c.4554+3A>T (n.4554+3A>T)
dbSNP
16g.3736647T>CCA2731849841CREBBPc.4560+3A>G (n.4560+3A>G)
c.4446+3A>G (n.4446+3A>G)
c.3195+3A>G (n.3195+3A>G)
n.350+3A>G
n.384A>G
n.3383+3A>G
c.4515+3A>G (n.4515+3A>G)
c.4143+3A>G (n.4143+3A>G)
c.4299+3A>G (n.4299+3A>G)
c.4506+3A>G (n.4506+3A>G)
c.3807+3A>G (n.3807+3A>G)
c.4554+3A>G (n.4554+3A>G)
dbSNP
16g.3736647T>GCA645575174CREBBPc.4560+3A>C (n.4560+3A>C)
c.4446+3A>C (n.4446+3A>C)
c.3195+3A>C (n.3195+3A>C)
n.350+3A>C
n.384A>C
n.3383+3A>C
c.4515+3A>C (n.4515+3A>C)
c.4143+3A>C (n.4143+3A>C)
c.4299+3A>C (n.4299+3A>C)
c.4506+3A>C (n.4506+3A>C)
c.3807+3A>C (n.3807+3A>C)
c.4554+3A>C (n.4554+3A>C)
dbSNP COSMIC
16g.3736648A>CCA394563228CREBBPc.4560+2T>G (n.4560+2T>G)
c.4446+2T>G (n.4446+2T>G)
c.3195+2T>G (n.3195+2T>G)
n.350+2T>G
n.383T>G
n.3383+2T>G
c.4515+2T>G (n.4515+2T>G)
c.4143+2T>G (n.4143+2T>G)
c.4299+2T>G (n.4299+2T>G)
c.4506+2T>G (n.4506+2T>G)
c.3807+2T>G (n.3807+2T>G)
c.4554+2T>G (n.4554+2T>G)
16g.3736648A>GCA394563225CREBBPc.4560+2T>C (n.4560+2T>C)
c.4446+2T>C (n.4446+2T>C)
c.3195+2T>C (n.3195+2T>C)
n.350+2T>C
n.383T>C
n.3383+2T>C
c.4515+2T>C (n.4515+2T>C)
c.4143+2T>C (n.4143+2T>C)
c.4299+2T>C (n.4299+2T>C)
c.4506+2T>C (n.4506+2T>C)
c.3807+2T>C (n.3807+2T>C)
c.4554+2T>C (n.4554+2T>C)
dbSNP
16g.3736648A>TCA394563227CREBBPc.4560+2T>A (n.4560+2T>A)
c.4446+2T>A (n.4446+2T>A)
c.3195+2T>A (n.3195+2T>A)
n.350+2T>A
n.383T>A
n.3383+2T>A
c.4515+2T>A (n.4515+2T>A)
c.4143+2T>A (n.4143+2T>A)
c.4299+2T>A (n.4299+2T>A)
c.4506+2T>A (n.4506+2T>A)
c.3807+2T>A (n.3807+2T>A)
c.4554+2T>A (n.4554+2T>A)
dbSNP
16g.3736649C>ACA394563230CREBBPc.4560+1G>T (n.4560+1G>T)
c.4446+1G>T (n.4446+1G>T)
c.3195+1G>T (n.3195+1G>T)
n.350+1G>T
n.382G>T
n.3383+1G>T
c.4515+1G>T (n.4515+1G>T)
c.4143+1G>T (n.4143+1G>T)
c.4299+1G>T (n.4299+1G>T)
c.4506+1G>T (n.4506+1G>T)
c.3807+1G>T (n.3807+1G>T)
c.4554+1G>T (n.4554+1G>T)
16g.3736649C>GCA394563232CREBBPc.4560+1G>C (n.4560+1G>C)
c.4446+1G>C (n.4446+1G>C)
c.3195+1G>C (n.3195+1G>C)
n.350+1G>C
n.382G>C
n.3383+1G>C
c.4515+1G>C (n.4515+1G>C)
c.4143+1G>C (n.4143+1G>C)
c.4299+1G>C (n.4299+1G>C)
c.4506+1G>C (n.4506+1G>C)
c.3807+1G>C (n.3807+1G>C)
c.4554+1G>C (n.4554+1G>C)
dbSNP
16g.3736649C>TCA394563234CREBBPc.4560+1G>A (n.4560+1G>A)
c.4446+1G>A (n.4446+1G>A)
c.3195+1G>A (n.3195+1G>A)
n.350+1G>A
n.382G>A
n.3383+1G>A
c.4515+1G>A (n.4515+1G>A)
c.4143+1G>A (n.4143+1G>A)
c.4299+1G>A (n.4299+1G>A)
c.4506+1G>A (n.4506+1G>A)
c.3807+1G>A (n.3807+1G>A)
c.4554+1G>A (n.4554+1G>A)
dbSNP
16g.3736650C>ACA394563236CREBBPc.4560G>T (p.Lys1520Asn)
c.4446G>T (p.Lys1482Asn)
c.3195G>T (p.Lys1065Asn)
n.350G>T
n.381G>T
n.3383G>T
c.4515G>T (p.Lys1505Asn)
c.4143G>T (p.Lys1381Asn)
c.4299G>T (p.Lys1433Asn)
c.4506G>T (p.Lys1502Asn)
c.3807G>T (p.Lys1269Asn)
c.4554G>T (p.Lys1518Asn)
16g.3736650C>GCA394563239CREBBPc.4560G>C (p.Lys1520Asn)
c.4446G>C (p.Lys1482Asn)
c.3195G>C (p.Lys1065Asn)
n.350G>C
n.381G>C
n.3383G>C
c.4515G>C (p.Lys1505Asn)
c.4143G>C (p.Lys1381Asn)
c.4299G>C (p.Lys1433Asn)
c.4506G>C (p.Lys1502Asn)
c.3807G>C (p.Lys1269Asn)
c.4554G>C (p.Lys1518Asn)
16g.3736650C>TCA493279088CREBBPc.4560G>A (p.Lys1520=)
c.4446G>A (p.Lys1482=)
c.3195G>A (p.Lys1065=)
n.350G>A
n.381G>A
n.3383G>A
c.4515G>A (p.Lys1505=)
c.4143G>A (p.Lys1381=)
c.4299G>A (p.Lys1433=)
c.4506G>A (p.Lys1502=)
c.3807G>A (p.Lys1269=)
c.4554G>A (p.Lys1518=)
16g.3736651T>ACA394563242CREBBPc.4559A>T (p.Lys1520Met)
c.4445A>T (p.Lys1482Met)
c.3194A>T (p.Lys1065Met)
n.349A>T
n.380A>T
n.3382A>T
c.4514A>T (p.Lys1505Met)
c.4142A>T (p.Lys1381Met)
c.4298A>T (p.Lys1433Met)
c.4505A>T (p.Lys1502Met)
c.3806A>T (p.Lys1269Met)
c.4553A>T (p.Lys1518Met)
ClinVar dbSNP
16g.3736651T>CCA394563244CREBBPc.4559A>G (p.Lys1520Arg)
c.4445A>G (p.Lys1482Arg)
c.3194A>G (p.Lys1065Arg)
n.349A>G
n.380A>G
n.3382A>G
c.4514A>G (p.Lys1505Arg)
c.4142A>G (p.Lys1381Arg)
c.4298A>G (p.Lys1433Arg)
c.4505A>G (p.Lys1502Arg)
c.3806A>G (p.Lys1269Arg)
c.4553A>G (p.Lys1518Arg)
ClinVar dbSNP
16g.3736651T>GCA394563245CREBBPc.4559A>C (p.Lys1520Thr)
c.4445A>C (p.Lys1482Thr)
c.3194A>C (p.Lys1065Thr)
n.349A>C
n.380A>C
n.3382A>C
c.4514A>C (p.Lys1505Thr)
c.4142A>C (p.Lys1381Thr)
c.4298A>C (p.Lys1433Thr)
c.4505A>C (p.Lys1502Thr)
c.3806A>C (p.Lys1269Thr)
c.4553A>C (p.Lys1518Thr)
16g.3736651T=CA2202936547CREBBPc.4559A= (p.Lys1520=)
c.4445A= (p.Lys1482=)
c.3194A= (p.Lys1065=)
n.349A=
n.380A=
n.3382A=
c.4514A= (p.Lys1505=)
c.4142A= (p.Lys1381=)
c.4298A= (p.Lys1433=)
c.4505A= (p.Lys1502=)
c.3806A= (p.Lys1269=)
c.4553A= (p.Lys1518=)
16g.3736652T>ACA394563247CREBBPc.4558A>T (p.Lys1520Ter)
c.4444A>T (p.Lys1482Ter)
c.3193A>T (p.Lys1065Ter)
n.348A>T
n.379A>T
n.3381A>T
c.4513A>T (p.Lys1505Ter)
c.4141A>T (p.Lys1381Ter)
c.4297A>T (p.Lys1433Ter)
c.4504A>T (p.Lys1502Ter)
c.3805A>T (p.Lys1269Ter)
c.4552A>T (p.Lys1518Ter)
16g.3736652T>CCA394563250CREBBPc.4558A>G (p.Lys1520Glu)
c.4444A>G (p.Lys1482Glu)
c.3193A>G (p.Lys1065Glu)
n.348A>G
n.379A>G
n.3381A>G
c.4513A>G (p.Lys1505Glu)
c.4141A>G (p.Lys1381Glu)
c.4297A>G (p.Lys1433Glu)
c.4504A>G (p.Lys1502Glu)
c.3805A>G (p.Lys1269Glu)
c.4552A>G (p.Lys1518Glu)
16g.3736652T>GCA394563253CREBBPc.4558A>C (p.Lys1520Gln)
c.4444A>C (p.Lys1482Gln)
c.3193A>C (p.Lys1065Gln)
n.348A>C
n.379A>C
n.3381A>C
c.4513A>C (p.Lys1505Gln)
c.4141A>C (p.Lys1381Gln)
c.4297A>C (p.Lys1433Gln)
c.4504A>C (p.Lys1502Gln)
c.3805A>C (p.Lys1269Gln)
c.4552A>C (p.Lys1518Gln)
16g.3736653G>ACA493279095CREBBPc.4557C>T (p.Tyr1519=)
c.4443C>T (p.Tyr1481=)
c.3192C>T (p.Tyr1064=)
n.347C>T
n.378C>T
n.3380C>T
c.4512C>T (p.Tyr1504=)
c.4140C>T (p.Tyr1380=)
c.4296C>T (p.Tyr1432=)
c.4503C>T (p.Tyr1501=)
c.3804C>T (p.Tyr1268=)
c.4551C>T (p.Tyr1517=)
dbSNP
16g.3736653G>CCA394563256CREBBPc.4557C>G (p.Tyr1519Ter)
c.4443C>G (p.Tyr1481Ter)
c.3192C>G (p.Tyr1064Ter)
n.347C>G
n.378C>G
n.3380C>G
c.4512C>G (p.Tyr1504Ter)
c.4140C>G (p.Tyr1380Ter)
c.4296C>G (p.Tyr1432Ter)
c.4503C>G (p.Tyr1501Ter)
c.3804C>G (p.Tyr1268Ter)
c.4551C>G (p.Tyr1517Ter)
dbSNP
16g.3736653G>TCA394563258CREBBPc.4557C>A (p.Tyr1519Ter)
c.4443C>A (p.Tyr1481Ter)
c.3192C>A (p.Tyr1064Ter)
n.347C>A
n.378C>A
n.3380C>A
c.4512C>A (p.Tyr1504Ter)
c.4140C>A (p.Tyr1380Ter)
c.4296C>A (p.Tyr1432Ter)
c.4503C>A (p.Tyr1501Ter)
c.3804C>A (p.Tyr1268Ter)
c.4551C>A (p.Tyr1517Ter)
16g.3736654T>ACA394563259CREBBPc.4556A>T (p.Tyr1519Phe)
c.4442A>T (p.Tyr1481Phe)
c.3191A>T (p.Tyr1064Phe)
n.346A>T
n.377A>T
n.3379A>T
c.4511A>T (p.Tyr1504Phe)
c.4139A>T (p.Tyr1380Phe)
c.4295A>T (p.Tyr1432Phe)
c.4502A>T (p.Tyr1501Phe)
c.3803A>T (p.Tyr1268Phe)
c.4550A>T (p.Tyr1517Phe)
dbSNP
16g.3736654T>CCA394563265CREBBPc.4556A>G (p.Tyr1519Cys)
c.4442A>G (p.Tyr1481Cys)
c.3191A>G (p.Tyr1064Cys)
n.346A>G
n.377A>G
n.3379A>G
c.4511A>G (p.Tyr1504Cys)
c.4139A>G (p.Tyr1380Cys)
c.4295A>G (p.Tyr1432Cys)
c.4502A>G (p.Tyr1501Cys)
c.3803A>G (p.Tyr1268Cys)
c.4550A>G (p.Tyr1517Cys)
dbSNP COSMIC
16g.3736654T>GCA394563262CREBBPc.4556A>C (p.Tyr1519Ser)
c.4442A>C (p.Tyr1481Ser)
c.3191A>C (p.Tyr1064Ser)
n.346A>C
n.377A>C
n.3379A>C
c.4511A>C (p.Tyr1504Ser)
c.4139A>C (p.Tyr1380Ser)
c.4295A>C (p.Tyr1432Ser)
c.4502A>C (p.Tyr1501Ser)
c.3803A>C (p.Tyr1268Ser)
c.4550A>C (p.Tyr1517Ser)
dbSNP
16g.3736655A>CCA394563267CREBBPc.4555T>G (p.Tyr1519Asp)
c.4441T>G (p.Tyr1481Asp)
c.3190T>G (p.Tyr1064Asp)
n.345T>G
n.376T>G
n.3378T>G
c.4510T>G (p.Tyr1504Asp)
c.4138T>G (p.Tyr1380Asp)
c.4294T>G (p.Tyr1432Asp)
c.4501T>G (p.Tyr1501Asp)
c.3802T>G (p.Tyr1268Asp)
c.4549T>G (p.Tyr1517Asp)
16g.3736655A>GCA394563269CREBBPc.4555T>C (p.Tyr1519His)
c.4441T>C (p.Tyr1481His)
c.3190T>C (p.Tyr1064His)
n.345T>C
n.376T>C
n.3378T>C
c.4510T>C (p.Tyr1504His)
c.4138T>C (p.Tyr1380His)
c.4294T>C (p.Tyr1432His)
c.4501T>C (p.Tyr1501His)
c.3802T>C (p.Tyr1268His)
c.4549T>C (p.Tyr1517His)
16g.3736655A>TCA394563272CREBBPc.4555T>A (p.Tyr1519Asn)
c.4441T>A (p.Tyr1481Asn)
c.3190T>A (p.Tyr1064Asn)
n.345T>A
n.376T>A
n.3378T>A
c.4510T>A (p.Tyr1504Asn)
c.4138T>A (p.Tyr1380Asn)
c.4294T>A (p.Tyr1432Asn)
c.4501T>A (p.Tyr1501Asn)
c.3802T>A (p.Tyr1268Asn)
c.4549T>A (p.Tyr1517Asn)
dbSNP
16g.3736656G>ACA493279106CREBBPc.4554C>T (p.Asp1518=)
c.4440C>T (p.Asp1480=)
c.3189C>T (p.Asp1063=)
n.344C>T
n.375C>T
n.3377C>T
c.4509C>T (p.Asp1503=)
c.4137C>T (p.Asp1379=)
c.4293C>T (p.Asp1431=)
c.4500C>T (p.Asp1500=)
c.3801C>T (p.Asp1267=)
c.4548C>T (p.Asp1516=)
16g.3736656G>CCA394563275CREBBPc.4554C>G (p.Asp1518Glu)
c.4440C>G (p.Asp1480Glu)
c.3189C>G (p.Asp1063Glu)
n.344C>G
n.375C>G
n.3377C>G
c.4509C>G (p.Asp1503Glu)
c.4137C>G (p.Asp1379Glu)
c.4293C>G (p.Asp1431Glu)
c.4500C>G (p.Asp1500Glu)
c.3801C>G (p.Asp1267Glu)
c.4548C>G (p.Asp1516Glu)
ClinVar dbSNP
16g.3736656G>TCA394563278CREBBPc.4554C>A (p.Asp1518Glu)
c.4440C>A (p.Asp1480Glu)
c.3189C>A (p.Asp1063Glu)
n.344C>A
n.375C>A
n.3377C>A
c.4509C>A (p.Asp1503Glu)
c.4137C>A (p.Asp1379Glu)
c.4293C>A (p.Asp1431Glu)
c.4500C>A (p.Asp1500Glu)
c.3801C>A (p.Asp1267Glu)
c.4548C>A (p.Asp1516Glu)
16g.3736657T>ACA394563280CREBBPc.4553A>T (p.Asp1518Val)
c.4439A>T (p.Asp1480Val)
c.3188A>T (p.Asp1063Val)
n.343A>T
n.374A>T
n.3376A>T
c.4508A>T (p.Asp1503Val)
c.4136A>T (p.Asp1379Val)
c.4292A>T (p.Asp1431Val)
c.4499A>T (p.Asp1500Val)
c.3800A>T (p.Asp1267Val)
c.4547A>T (p.Asp1516Val)
dbSNP
16g.3736657T>CCA394563283CREBBPc.4553A>G (p.Asp1518Gly)
c.4439A>G (p.Asp1480Gly)
c.3188A>G (p.Asp1063Gly)
n.343A>G
n.374A>G
n.3376A>G
c.4508A>G (p.Asp1503Gly)
c.4136A>G (p.Asp1379Gly)
c.4292A>G (p.Asp1431Gly)
c.4499A>G (p.Asp1500Gly)
c.3800A>G (p.Asp1267Gly)
c.4547A>G (p.Asp1516Gly)
16g.3736657T>GCA394563285CREBBPc.4553A>C (p.Asp1518Ala)
c.4439A>C (p.Asp1480Ala)
c.3188A>C (p.Asp1063Ala)
n.343A>C
n.374A>C
n.3376A>C
c.4508A>C (p.Asp1503Ala)
c.4136A>C (p.Asp1379Ala)
c.4292A>C (p.Asp1431Ala)
c.4499A>C (p.Asp1500Ala)
c.3800A>C (p.Asp1267Ala)
c.4547A>C (p.Asp1516Ala)
dbSNP
16g.3736658C>ACA394563286CREBBPc.4552G>T (p.Asp1518Tyr)
c.4438G>T (p.Asp1480Tyr)
c.3187G>T (p.Asp1063Tyr)
n.342G>T
n.373G>T
n.3375G>T
c.4507G>T (p.Asp1503Tyr)
c.4135G>T (p.Asp1379Tyr)
c.4291G>T (p.Asp1431Tyr)
c.4498G>T (p.Asp1500Tyr)
c.3799G>T (p.Asp1267Tyr)
c.4546G>T (p.Asp1516Tyr)
dbSNP
16g.3736658C>GCA394563289CREBBPc.4552G>C (p.Asp1518His)
c.4438G>C (p.Asp1480His)
c.3187G>C (p.Asp1063His)
n.342G>C
n.373G>C
n.3375G>C
c.4507G>C (p.Asp1503His)
c.4135G>C (p.Asp1379His)
c.4291G>C (p.Asp1431His)
c.4498G>C (p.Asp1500His)
c.3799G>C (p.Asp1267His)
c.4546G>C (p.Asp1516His)
dbSNP
16g.3736658C>TCA394563293CREBBPc.4552G>A (p.Asp1518Asn)
c.4438G>A (p.Asp1480Asn)
c.3187G>A (p.Asp1063Asn)
n.342G>A
n.373G>A
n.3375G>A
c.4507G>A (p.Asp1503Asn)
c.4135G>A (p.Asp1379Asn)
c.4291G>A (p.Asp1431Asn)
c.4498G>A (p.Asp1500Asn)
c.3799G>A (p.Asp1267Asn)
c.4546G>A (p.Asp1516Asn)
dbSNP
16g.3736659A>CCA394563295CREBBPc.4551T>G (p.His1517Gln)
c.4437T>G (p.His1479Gln)
c.3186T>G (p.His1062Gln)
n.341T>G
n.372T>G
n.3374T>G
c.4506T>G (p.His1502Gln)
c.4134T>G (p.His1378Gln)
c.4290T>G (p.His1430Gln)
c.4497T>G (p.His1499Gln)
c.3798T>G (p.His1266Gln)
c.4545T>G (p.His1515Gln)
16g.3736659A>GCA493279117CREBBPc.4551T>C (p.His1517=)
c.4437T>C (p.His1479=)
c.3186T>C (p.His1062=)
n.341T>C
n.372T>C
n.3374T>C
c.4506T>C (p.His1502=)
c.4134T>C (p.His1378=)
c.4290T>C (p.His1430=)
c.4497T>C (p.His1499=)
c.3798T>C (p.His1266=)
c.4545T>C (p.His1515=)
16g.3736659A>TCA394563296CREBBPc.4551T>A (p.His1517Gln)
c.4437T>A (p.His1479Gln)
c.3186T>A (p.His1062Gln)
n.341T>A
n.372T>A
n.3374T>A
c.4506T>A (p.His1502Gln)
c.4134T>A (p.His1378Gln)
c.4290T>A (p.His1430Gln)
c.4497T>A (p.His1499Gln)
c.3798T>A (p.His1266Gln)
c.4545T>A (p.His1515Gln)
dbSNP
16g.3736660T>ACA394563303CREBBPc.4550A>T (p.His1517Leu)
c.4436A>T (p.His1479Leu)
c.3185A>T (p.His1062Leu)
n.340A>T
n.371A>T
n.3373A>T
c.4505A>T (p.His1502Leu)
c.4133A>T (p.His1378Leu)
c.4289A>T (p.His1430Leu)
c.4496A>T (p.His1499Leu)
c.3797A>T (p.His1266Leu)
c.4544A>T (p.His1515Leu)
16g.3736660T>CCA394563299CREBBPc.4550A>G (p.His1517Arg)
c.4436A>G (p.His1479Arg)
c.3185A>G (p.His1062Arg)
n.340A>G
n.371A>G
n.3373A>G
c.4505A>G (p.His1502Arg)
c.4133A>G (p.His1378Arg)
c.4289A>G (p.His1430Arg)
c.4496A>G (p.His1499Arg)
c.3797A>G (p.His1266Arg)
c.4544A>G (p.His1515Arg)
dbSNP gnomAD v4
16g.3736660T>GCA394563300CREBBPc.4550A>C (p.His1517Pro)
c.4436A>C (p.His1479Pro)
c.3185A>C (p.His1062Pro)
n.340A>C
n.371A>C
n.3373A>C
c.4505A>C (p.His1502Pro)
c.4133A>C (p.His1378Pro)
c.4289A>C (p.His1430Pro)
c.4496A>C (p.His1499Pro)
c.3797A>C (p.His1266Pro)
c.4544A>C (p.His1515Pro)
16g.3736660T=CA2202936554CREBBPc.4550A= (p.His1517=)
c.4436A= (p.His1479=)
c.3185A= (p.His1062=)
n.340A=
n.371A=
n.3373A=
c.4505A= (p.His1502=)
c.4133A= (p.His1378=)
c.4289A= (p.His1430=)
c.4496A= (p.His1499=)
c.3797A= (p.His1266=)
c.4544A= (p.His1515=)
16g.3736661G>ACA394563307CREBBPc.4549C>T (p.His1517Tyr)
c.4435C>T (p.His1479Tyr)
c.3184C>T (p.His1062Tyr)
n.339C>T
n.370C>T
n.3372C>T
c.4504C>T (p.His1502Tyr)
c.4132C>T (p.His1378Tyr)
c.4288C>T (p.His1430Tyr)
c.4495C>T (p.His1499Tyr)
c.3796C>T (p.His1266Tyr)
c.4543C>T (p.His1515Tyr)
dbSNP
16g.3736661G>CCA394563309CREBBPc.4549C>G (p.His1517Asp)
c.4435C>G (p.His1479Asp)
c.3184C>G (p.His1062Asp)
n.339C>G
n.370C>G
n.3372C>G
c.4504C>G (p.His1502Asp)
c.4132C>G (p.His1378Asp)
c.4288C>G (p.His1430Asp)
c.4495C>G (p.His1499Asp)
c.3796C>G (p.His1266Asp)
c.4543C>G (p.His1515Asp)
dbSNP
16g.3736661G>TCA394563319CREBBPc.4549C>A (p.His1517Asn)
c.4435C>A (p.His1479Asn)
c.3184C>A (p.His1062Asn)
n.339C>A
n.370C>A
n.3372C>A
c.4504C>A (p.His1502Asn)
c.4132C>A (p.His1378Asn)
c.4288C>A (p.His1430Asn)
c.4495C>A (p.His1499Asn)
c.3796C>A (p.His1266Asn)
c.4543C>A (p.His1515Asn)
16g.3736662G>ACA493279125CREBBPc.4548C>T (p.Ile1516=)
c.4434C>T (p.Ile1478=)
c.3183C>T (p.Ile1061=)
n.338C>T
n.369C>T
n.3371C>T
c.4503C>T (p.Ile1501=)
c.4131C>T (p.Ile1377=)
c.4287C>T (p.Ile1429=)
c.4494C>T (p.Ile1498=)
c.3795C>T (p.Ile1265=)
c.4542C>T (p.Ile1514=)
ClinVar dbSNP
16g.3736662G>CCA394563322CREBBPc.4548C>G (p.Ile1516Met)
c.4434C>G (p.Ile1478Met)
c.3183C>G (p.Ile1061Met)
n.338C>G
n.369C>G
n.3371C>G
c.4503C>G (p.Ile1501Met)
c.4131C>G (p.Ile1377Met)
c.4287C>G (p.Ile1429Met)
c.4494C>G (p.Ile1498Met)
c.3795C>G (p.Ile1265Met)
c.4542C>G (p.Ile1514Met)
COSMIC
16g.3736662G>TCA493279129CREBBPc.4548C>A (p.Ile1516=)
c.4434C>A (p.Ile1478=)
c.3183C>A (p.Ile1061=)
n.338C>A
n.369C>A
n.3371C>A
c.4503C>A (p.Ile1501=)
c.4131C>A (p.Ile1377=)
c.4287C>A (p.Ile1429=)
c.4494C>A (p.Ile1498=)
c.3795C>A (p.Ile1265=)
c.4542C>A (p.Ile1514=)
16g.3736663A>CCA394563326CREBBPc.4547T>G (p.Ile1516Ser)
c.4433T>G (p.Ile1478Ser)
c.3182T>G (p.Ile1061Ser)
n.337T>G
n.368T>G
n.3370T>G
c.4502T>G (p.Ile1501Ser)
c.4130T>G (p.Ile1377Ser)
c.4286T>G (p.Ile1429Ser)
c.4493T>G (p.Ile1498Ser)
c.3794T>G (p.Ile1265Ser)
c.4541T>G (p.Ile1514Ser)
16g.3736663A>GCA394563329CREBBPc.4547T>C (p.Ile1516Thr)
c.4433T>C (p.Ile1478Thr)
c.3182T>C (p.Ile1061Thr)
n.337T>C
n.368T>C
n.3370T>C
c.4502T>C (p.Ile1501Thr)
c.4130T>C (p.Ile1377Thr)
c.4286T>C (p.Ile1429Thr)
c.4493T>C (p.Ile1498Thr)
c.3794T>C (p.Ile1265Thr)
c.4541T>C (p.Ile1514Thr)
dbSNP
16g.3736663A>TCA394563331CREBBPc.4547T>A (p.Ile1516Asn)
c.4433T>A (p.Ile1478Asn)
c.3182T>A (p.Ile1061Asn)
n.337T>A
n.368T>A
n.3370T>A
c.4502T>A (p.Ile1501Asn)
c.4130T>A (p.Ile1377Asn)
c.4286T>A (p.Ile1429Asn)
c.4493T>A (p.Ile1498Asn)
c.3794T>A (p.Ile1265Asn)
c.4541T>A (p.Ile1514Asn)
dbSNP
16g.3736664T>ACA394563335CREBBPc.4546A>T (p.Ile1516Phe)
c.4432A>T (p.Ile1478Phe)
c.3181A>T (p.Ile1061Phe)
n.336A>T
n.367A>T
n.3369A>T
c.4501A>T (p.Ile1501Phe)
c.4129A>T (p.Ile1377Phe)
c.4285A>T (p.Ile1429Phe)
c.4492A>T (p.Ile1498Phe)
c.3793A>T (p.Ile1265Phe)
c.4540A>T (p.Ile1514Phe)
dbSNP
16g.3736664T>CCA394563336CREBBPc.4546A>G (p.Ile1516Val)
c.4432A>G (p.Ile1478Val)
c.3181A>G (p.Ile1061Val)
n.336A>G
n.367A>G
n.3369A>G
c.4501A>G (p.Ile1501Val)
c.4129A>G (p.Ile1377Val)
c.4285A>G (p.Ile1429Val)
c.4492A>G (p.Ile1498Val)
c.3793A>G (p.Ile1265Val)
c.4540A>G (p.Ile1514Val)
dbSNP gnomAD v4
16g.3736664T>GCA394563338CREBBPc.4546A>C (p.Ile1516Leu)
c.4432A>C (p.Ile1478Leu)
c.3181A>C (p.Ile1061Leu)
n.336A>C
n.367A>C
n.3369A>C
c.4501A>C (p.Ile1501Leu)
c.4129A>C (p.Ile1377Leu)
c.4285A>C (p.Ile1429Leu)
c.4492A>C (p.Ile1498Leu)
c.3793A>C (p.Ile1265Leu)
c.4540A>C (p.Ile1514Leu)
dbSNP
16g.3736665G>ACA493279141CREBBPc.4545C>T (p.Ile1515=)
c.4431C>T (p.Ile1477=)
c.3180C>T (p.Ile1060=)
n.335C>T
n.366C>T
n.3368C>T
c.4500C>T (p.Ile1500=)
c.4128C>T (p.Ile1376=)
c.4284C>T (p.Ile1428=)
c.4491C>T (p.Ile1497=)
c.3792C>T (p.Ile1264=)
c.4539C>T (p.Ile1513=)
dbSNP
16g.3736665G>CCA394563345CREBBPc.4545C>G (p.Ile1515Met)
c.4431C>G (p.Ile1477Met)
c.3180C>G (p.Ile1060Met)
n.335C>G
n.366C>G
n.3368C>G
c.4500C>G (p.Ile1500Met)
c.4128C>G (p.Ile1376Met)
c.4284C>G (p.Ile1428Met)
c.4491C>G (p.Ile1497Met)
c.3792C>G (p.Ile1264Met)
c.4539C>G (p.Ile1513Met)
dbSNP COSMIC
16g.3736665G>TCA493279139CREBBPc.4545C>A (p.Ile1515=)
c.4431C>A (p.Ile1477=)
c.3180C>A (p.Ile1060=)
n.335C>A
n.366C>A
n.3368C>A
c.4500C>A (p.Ile1500=)
c.4128C>A (p.Ile1376=)
c.4284C>A (p.Ile1428=)
c.4491C>A (p.Ile1497=)
c.3792C>A (p.Ile1264=)
c.4539C>A (p.Ile1513=)
16g.3736666A>CCA394563350CREBBPc.4544T>G (p.Ile1515Ser)
c.4430T>G (p.Ile1477Ser)
c.3179T>G (p.Ile1060Ser)
n.334T>G
n.365T>G
n.3367T>G
c.4499T>G (p.Ile1500Ser)
c.4127T>G (p.Ile1376Ser)
c.4283T>G (p.Ile1428Ser)
c.4490T>G (p.Ile1497Ser)
c.3791T>G (p.Ile1264Ser)
c.4538T>G (p.Ile1513Ser)
dbSNP
16g.3736666A>GCA394563348CREBBPc.4544T>C (p.Ile1515Thr)
c.4430T>C (p.Ile1477Thr)
c.3179T>C (p.Ile1060Thr)
n.334T>C
n.365T>C
n.3367T>C
c.4499T>C (p.Ile1500Thr)
c.4127T>C (p.Ile1376Thr)
c.4283T>C (p.Ile1428Thr)
c.4490T>C (p.Ile1497Thr)
c.3791T>C (p.Ile1264Thr)
c.4538T>C (p.Ile1513Thr)
16g.3736666A>TCA394563349CREBBPc.4544T>A (p.Ile1515Asn)
c.4430T>A (p.Ile1477Asn)
c.3179T>A (p.Ile1060Asn)
n.334T>A
n.365T>A
n.3367T>A
c.4499T>A (p.Ile1500Asn)
c.4127T>A (p.Ile1376Asn)
c.4283T>A (p.Ile1428Asn)
c.4490T>A (p.Ile1497Asn)
c.3791T>A (p.Ile1264Asn)
c.4538T>A (p.Ile1513Asn)
dbSNP
16g.3736667T>ACA394563353CREBBPc.4543A>T (p.Ile1515Phe)
c.4429A>T (p.Ile1477Phe)
c.3178A>T (p.Ile1060Phe)
n.333A>T
n.364A>T
n.3366A>T
c.4498A>T (p.Ile1500Phe)
c.4126A>T (p.Ile1376Phe)
c.4282A>T (p.Ile1428Phe)
c.4489A>T (p.Ile1497Phe)
c.3790A>T (p.Ile1264Phe)
c.4537A>T (p.Ile1513Phe)
dbSNP
16g.3736667T>CCA394563363CREBBPc.4543A>G (p.Ile1515Val)
c.4429A>G (p.Ile1477Val)
c.3178A>G (p.Ile1060Val)
n.333A>G
n.364A>G
n.3366A>G
c.4498A>G (p.Ile1500Val)
c.4126A>G (p.Ile1376Val)
c.4282A>G (p.Ile1428Val)
c.4489A>G (p.Ile1497Val)
c.3790A>G (p.Ile1264Val)
c.4537A>G (p.Ile1513Val)
16g.3736667T>GCA394563360CREBBPc.4543A>C (p.Ile1515Leu)
c.4429A>C (p.Ile1477Leu)
c.3178A>C (p.Ile1060Leu)
n.333A>C
n.364A>C
n.3366A>C
c.4498A>C (p.Ile1500Leu)
c.4126A>C (p.Ile1376Leu)
c.4282A>C (p.Ile1428Leu)
c.4489A>C (p.Ile1497Leu)
c.3790A>C (p.Ile1264Leu)
c.4537A>C (p.Ile1513Leu)
dbSNP
16g.3736668C>ACA493279150CREBBPc.4542G>T (p.Arg1514=)
c.4428G>T (p.Arg1476=)
c.3177G>T (p.Arg1059=)
n.332G>T
n.363G>T
n.3365G>T
c.4497G>T (p.Arg1499=)
c.4125G>T (p.Arg1375=)
c.4281G>T (p.Arg1427=)
c.4488G>T (p.Arg1496=)
c.3789G>T (p.Arg1263=)
c.4536G>T (p.Arg1512=)
dbSNP gnomAD v4
16g.3736668C=CA2202936558CREBBPc.4542G= (p.Arg1514=)
c.4428G= (p.Arg1476=)
c.3177G= (p.Arg1059=)
n.332G=
n.363G=
n.3365G=
c.4497G= (p.Arg1499=)
c.4125G= (p.Arg1375=)
c.4281G= (p.Arg1427=)
c.4488G= (p.Arg1496=)
c.3789G= (p.Arg1263=)
c.4536G= (p.Arg1512=)
16g.3736668C>GCA276980031CREBBPc.4542G>C (p.Arg1514=)
c.4428G>C (p.Arg1476=)
c.3177G>C (p.Arg1059=)
n.332G>C
n.363G>C
n.3365G>C
c.4497G>C (p.Arg1499=)
c.4125G>C (p.Arg1375=)
c.4281G>C (p.Arg1427=)
c.4488G>C (p.Arg1496=)
c.3789G>C (p.Arg1263=)
c.4536G>C (p.Arg1512=)
dbSNP gnomAD v2 gnomAD v4
16g.3736668C>TCA493279153CREBBPc.4542G>A (p.Arg1514=)
c.4428G>A (p.Arg1476=)
c.3177G>A (p.Arg1059=)
n.332G>A
n.363G>A
n.3365G>A
c.4497G>A (p.Arg1499=)
c.4125G>A (p.Arg1375=)
c.4281G>A (p.Arg1427=)
c.4488G>A (p.Arg1496=)
c.3789G>A (p.Arg1263=)
c.4536G>A (p.Arg1512=)
dbSNP
16g.3736669C>ACA394563366CREBBPc.4541G>T (p.Arg1514Leu)
c.4427G>T (p.Arg1476Leu)
c.3176G>T (p.Arg1059Leu)
n.331G>T
n.362G>T
n.3364G>T
c.4496G>T (p.Arg1499Leu)
c.4124G>T (p.Arg1375Leu)
c.4280G>T (p.Arg1427Leu)
c.4487G>T (p.Arg1496Leu)
c.3788G>T (p.Arg1263Leu)
c.4535G>T (p.Arg1512Leu)
dbSNP
16g.3736669C>GCA394563367CREBBPc.4541G>C (p.Arg1514Pro)
c.4427G>C (p.Arg1476Pro)
c.3176G>C (p.Arg1059Pro)
n.331G>C
n.362G>C
n.3364G>C
c.4496G>C (p.Arg1499Pro)
c.4124G>C (p.Arg1375Pro)
c.4280G>C (p.Arg1427Pro)
c.4487G>C (p.Arg1496Pro)
c.3788G>C (p.Arg1263Pro)
c.4535G>C (p.Arg1512Pro)
16g.3736669C>TCA394563369CREBBPc.4541G>A (p.Arg1514Gln)
c.4427G>A (p.Arg1476Gln)
c.3176G>A (p.Arg1059Gln)
n.331G>A
n.362G>A
n.3364G>A
c.4496G>A (p.Arg1499Gln)
c.4124G>A (p.Arg1375Gln)
c.4280G>A (p.Arg1427Gln)
c.4487G>A (p.Arg1496Gln)
c.3788G>A (p.Arg1263Gln)
c.4535G>A (p.Arg1512Gln)
dbSNP
16g.3736670G>ACA394563371CREBBPc.4540C>T (p.Arg1514Trp)
c.4426C>T (p.Arg1476Trp)
c.3175C>T (p.Arg1059Trp)
n.330C>T
n.361C>T
n.3363C>T
c.4495C>T (p.Arg1499Trp)
c.4123C>T (p.Arg1375Trp)
c.4279C>T (p.Arg1427Trp)
c.4486C>T (p.Arg1496Trp)
c.3787C>T (p.Arg1263Trp)
c.4534C>T (p.Arg1512Trp)
dbSNP gnomAD v4
16g.3736670G>CCA394563372CREBBPc.4540C>G (p.Arg1514Gly)
c.4426C>G (p.Arg1476Gly)
c.3175C>G (p.Arg1059Gly)
n.330C>G
n.361C>G
n.3363C>G
c.4495C>G (p.Arg1499Gly)
c.4123C>G (p.Arg1375Gly)
c.4279C>G (p.Arg1427Gly)
c.4486C>G (p.Arg1496Gly)
c.3787C>G (p.Arg1263Gly)
c.4534C>G (p.Arg1512Gly)
dbSNP gnomAD v2 gnomAD v4
16g.3736670G=CA2202936560CREBBPc.4540C= (p.Arg1514=)
c.4426C= (p.Arg1476=)
c.3175C= (p.Arg1059=)
n.330C=
n.361C=
n.3363C=
c.4495C= (p.Arg1499=)
c.4123C= (p.Arg1375=)
c.4279C= (p.Arg1427=)
c.4486C= (p.Arg1496=)
c.3787C= (p.Arg1263=)
c.4534C= (p.Arg1512=)
16g.3736670G>TCA493279159CREBBPc.4540C>A (p.Arg1514=)
c.4426C>A (p.Arg1476=)
c.3175C>A (p.Arg1059=)
n.330C>A
n.361C>A
n.3363C>A
c.4495C>A (p.Arg1499=)
c.4123C>A (p.Arg1375=)
c.4279C>A (p.Arg1427=)
c.4486C>A (p.Arg1496=)
c.3787C>A (p.Arg1263=)
c.4534C>A (p.Arg1512=)
16g.3736671C>ACA394563375CREBBPc.4539G>T (p.Glu1513Asp)
c.4425G>T (p.Glu1475Asp)
c.3174G>T (p.Glu1058Asp)
n.329G>T
n.360G>T
n.3362G>T
c.4494G>T (p.Glu1498Asp)
c.4122G>T (p.Glu1374Asp)
c.4278G>T (p.Glu1426Asp)
c.4485G>T (p.Glu1495Asp)
c.3786G>T (p.Glu1262Asp)
c.4533G>T (p.Glu1511Asp)
dbSNP
16g.3736671C=CA2202936563CREBBPc.4539G= (p.Glu1513=)
c.4425G= (p.Glu1475=)
c.3174G= (p.Glu1058=)
n.329G=
n.360G=
n.3362G=
c.4494G= (p.Glu1498=)
c.4122G= (p.Glu1374=)
c.4278G= (p.Glu1426=)
c.4485G= (p.Glu1495=)
c.3786G= (p.Glu1262=)
c.4533G= (p.Glu1511=)
16g.3736671C>GCA394563378CREBBPc.4539G>C (p.Glu1513Asp)
c.4425G>C (p.Glu1475Asp)
c.3174G>C (p.Glu1058Asp)
n.329G>C
n.360G>C
n.3362G>C
c.4494G>C (p.Glu1498Asp)
c.4122G>C (p.Glu1374Asp)
c.4278G>C (p.Glu1426Asp)
c.4485G>C (p.Glu1495Asp)
c.3786G>C (p.Glu1262Asp)
c.4533G>C (p.Glu1511Asp)
dbSNP
16g.3736671C>TCA493279164CREBBPc.4539G>A (p.Glu1513=)
c.4425G>A (p.Glu1475=)
c.3174G>A (p.Glu1058=)
n.329G>A
n.360G>A
n.3362G>A
c.4494G>A (p.Glu1498=)
c.4122G>A (p.Glu1374=)
c.4278G>A (p.Glu1426=)
c.4485G>A (p.Glu1495=)
c.3786G>A (p.Glu1262=)
c.4533G>A (p.Glu1511=)
dbSNP gnomAD v3 gnomAD v4
16g.3736672T>ACA394563380CREBBPc.4538A>T (p.Glu1513Val)
c.4424A>T (p.Glu1475Val)
c.3173A>T (p.Glu1058Val)
n.328A>T
n.359A>T
n.3361A>T
c.4493A>T (p.Glu1498Val)
c.4121A>T (p.Glu1374Val)
c.4277A>T (p.Glu1426Val)
c.4484A>T (p.Glu1495Val)
c.3785A>T (p.Glu1262Val)
c.4532A>T (p.Glu1511Val)
dbSNP
16g.3736672T>CCA394563381CREBBPc.4538A>G (p.Glu1513Gly)
c.4424A>G (p.Glu1475Gly)
c.3173A>G (p.Glu1058Gly)
n.328A>G
n.359A>G
n.3361A>G
c.4493A>G (p.Glu1498Gly)
c.4121A>G (p.Glu1374Gly)
c.4277A>G (p.Glu1426Gly)
c.4484A>G (p.Glu1495Gly)
c.3785A>G (p.Glu1262Gly)
c.4532A>G (p.Glu1511Gly)
dbSNP
16g.3736672T>GCA394563384CREBBPc.4538A>C (p.Glu1513Ala)
c.4424A>C (p.Glu1475Ala)
c.3173A>C (p.Glu1058Ala)
n.328A>C
n.359A>C
n.3361A>C
c.4493A>C (p.Glu1498Ala)
c.4121A>C (p.Glu1374Ala)
c.4277A>C (p.Glu1426Ala)
c.4484A>C (p.Glu1495Ala)
c.3785A>C (p.Glu1262Ala)
c.4532A>C (p.Glu1511Ala)
16g.3736673C>ACA394563388CREBBPc.4537G>T (p.Glu1513Ter)
c.4423G>T (p.Glu1475Ter)
c.3172G>T (p.Glu1058Ter)
n.327G>T
n.358G>T
n.3360G>T
c.4492G>T (p.Glu1498Ter)
c.4120G>T (p.Glu1374Ter)
c.4276G>T (p.Glu1426Ter)
c.4483G>T (p.Glu1495Ter)
c.3784G>T (p.Glu1262Ter)
c.4531G>T (p.Glu1511Ter)
dbSNP
16g.3736673C>GCA394563390CREBBPc.4537G>C (p.Glu1513Gln)
c.4423G>C (p.Glu1475Gln)
c.3172G>C (p.Glu1058Gln)
n.327G>C
n.358G>C
n.3360G>C
c.4492G>C (p.Glu1498Gln)
c.4120G>C (p.Glu1374Gln)
c.4276G>C (p.Glu1426Gln)
c.4483G>C (p.Glu1495Gln)
c.3784G>C (p.Glu1262Gln)
c.4531G>C (p.Glu1511Gln)
dbSNP
16g.3736673C>TCA394563392CREBBPc.4537G>A (p.Glu1513Lys)
c.4423G>A (p.Glu1475Lys)
c.3172G>A (p.Glu1058Lys)
n.327G>A
n.358G>A
n.3360G>A
c.4492G>A (p.Glu1498Lys)
c.4120G>A (p.Glu1374Lys)
c.4276G>A (p.Glu1426Lys)
c.4483G>A (p.Glu1495Lys)
c.3784G>A (p.Glu1262Lys)
c.4531G>A (p.Glu1511Lys)
dbSNP
16g.3736674T>ACA493279172CREBBPc.4536A>T (p.Ala1512=)
c.4422A>T (p.Ala1474=)
c.3171A>T (p.Ala1057=)
n.326A>T
n.357A>T
n.3359A>T
c.4491A>T (p.Ala1497=)
c.4119A>T (p.Ala1373=)
c.4275A>T (p.Ala1425=)
c.4482A>T (p.Ala1494=)
c.3783A>T (p.Ala1261=)
c.4530A>T (p.Ala1510=)
dbSNP
16g.3736674T>CCA493279174CREBBPc.4536A>G (p.Ala1512=)
c.4422A>G (p.Ala1474=)
c.3171A>G (p.Ala1057=)
n.326A>G
n.357A>G
n.3359A>G
c.4491A>G (p.Ala1497=)
c.4119A>G (p.Ala1373=)
c.4275A>G (p.Ala1425=)
c.4482A>G (p.Ala1494=)
c.3783A>G (p.Ala1261=)
c.4530A>G (p.Ala1510=)
dbSNP
16g.3736674T>GCA493279176CREBBPc.4536A>C (p.Ala1512=)
c.4422A>C (p.Ala1474=)
c.3171A>C (p.Ala1057=)
n.326A>C
n.357A>C
n.3359A>C
c.4491A>C (p.Ala1497=)
c.4119A>C (p.Ala1373=)
c.4275A>C (p.Ala1425=)
c.4482A>C (p.Ala1494=)
c.3783A>C (p.Ala1261=)
c.4530A>C (p.Ala1510=)
16g.3736675G>ACA394563395CREBBPc.4535C>T (p.Ala1512Val)
c.4421C>T (p.Ala1474Val)
c.3170C>T (p.Ala1057Val)
n.325C>T
n.356C>T
n.3358C>T
c.4490C>T (p.Ala1497Val)
c.4118C>T (p.Ala1373Val)
c.4274C>T (p.Ala1425Val)
c.4481C>T (p.Ala1494Val)
c.3782C>T (p.Ala1261Val)
c.4529C>T (p.Ala1510Val)
dbSNP
16g.3736675G>CCA394563399CREBBPc.4535C>G (p.Ala1512Gly)
c.4421C>G (p.Ala1474Gly)
c.3170C>G (p.Ala1057Gly)
n.325C>G
n.356C>G
n.3358C>G
c.4490C>G (p.Ala1497Gly)
c.4118C>G (p.Ala1373Gly)
c.4274C>G (p.Ala1425Gly)
c.4481C>G (p.Ala1494Gly)
c.3782C>G (p.Ala1261Gly)
c.4529C>G (p.Ala1510Gly)
dbSNP
16g.3736675G>TCA394563397CREBBPc.4535C>A (p.Ala1512Glu)
c.4421C>A (p.Ala1474Glu)
c.3170C>A (p.Ala1057Glu)
n.325C>A
n.356C>A
n.3358C>A
c.4490C>A (p.Ala1497Glu)
c.4118C>A (p.Ala1373Glu)
c.4274C>A (p.Ala1425Glu)
c.4481C>A (p.Ala1494Glu)
c.3782C>A (p.Ala1261Glu)
c.4529C>A (p.Ala1510Glu)
dbSNP
16g.3736676C>ACA394563402CREBBPc.4534G>T (p.Ala1512Ser)
c.4420G>T (p.Ala1474Ser)
c.3169G>T (p.Ala1057Ser)
n.324G>T
n.355G>T
n.3357G>T
c.4489G>T (p.Ala1497Ser)
c.4117G>T (p.Ala1373Ser)
c.4273G>T (p.Ala1425Ser)
c.4480G>T (p.Ala1494Ser)
c.3781G>T (p.Ala1261Ser)
c.4528G>T (p.Ala1510Ser)
16g.3736676C>GCA394563404CREBBPc.4534G>C (p.Ala1512Pro)
c.4420G>C (p.Ala1474Pro)
c.3169G>C (p.Ala1057Pro)
n.324G>C
n.355G>C
n.3357G>C
c.4489G>C (p.Ala1497Pro)
c.4117G>C (p.Ala1373Pro)
c.4273G>C (p.Ala1425Pro)
c.4480G>C (p.Ala1494Pro)
c.3781G>C (p.Ala1261Pro)
c.4528G>C (p.Ala1510Pro)
16g.3736676C>TCA394563406CREBBPc.4534G>A (p.Ala1512Thr)
c.4420G>A (p.Ala1474Thr)
c.3169G>A (p.Ala1057Thr)
n.324G>A
n.355G>A
n.3357G>A
c.4489G>A (p.Ala1497Thr)
c.4117G>A (p.Ala1373Thr)
c.4273G>A (p.Ala1425Thr)
c.4480G>A (p.Ala1494Thr)
c.3781G>A (p.Ala1261Thr)
c.4528G>A (p.Ala1510Thr)
16g.3736677A=CA2202936567CREBBPc.4533T= (p.Phe1511=)
c.4419T= (p.Phe1473=)
c.3168T= (p.Phe1056=)
n.323T=
n.354T=
n.3356T=
c.4488T= (p.Phe1496=)
c.4116T= (p.Phe1372=)
c.4272T= (p.Phe1424=)
c.4479T= (p.Phe1493=)
c.3780T= (p.Phe1260=)
c.4527T= (p.Phe1509=)
16g.3736677A>CCA394563408CREBBPc.4533T>G (p.Phe1511Leu)
c.4419T>G (p.Phe1473Leu)
c.3168T>G (p.Phe1056Leu)
n.323T>G
n.354T>G
n.3356T>G
c.4488T>G (p.Phe1496Leu)
c.4116T>G (p.Phe1372Leu)
c.4272T>G (p.Phe1424Leu)
c.4479T>G (p.Phe1493Leu)
c.3780T>G (p.Phe1260Leu)
c.4527T>G (p.Phe1509Leu)
16g.3736677A>GCA493279185CREBBPc.4533T>C (p.Phe1511=)
c.4419T>C (p.Phe1473=)
c.3168T>C (p.Phe1056=)
n.323T>C
n.354T>C
n.3356T>C
c.4488T>C (p.Phe1496=)
c.4116T>C (p.Phe1372=)
c.4272T>C (p.Phe1424=)
c.4479T>C (p.Phe1493=)
c.3780T>C (p.Phe1260=)
c.4527T>C (p.Phe1509=)
dbSNP gnomAD v4
16g.3736677A>TCA394563410CREBBPc.4533T>A (p.Phe1511Leu)
c.4419T>A (p.Phe1473Leu)
c.3168T>A (p.Phe1056Leu)
n.323T>A
n.354T>A
n.3356T>A
c.4488T>A (p.Phe1496Leu)
c.4116T>A (p.Phe1372Leu)
c.4272T>A (p.Phe1424Leu)
c.4479T>A (p.Phe1493Leu)
c.3780T>A (p.Phe1260Leu)
c.4527T>A (p.Phe1509Leu)
dbSNP
16g.3736678A>CCA394563413CREBBPc.4532T>G (p.Phe1511Cys)
c.4418T>G (p.Phe1473Cys)
c.3167T>G (p.Phe1056Cys)
n.322T>G
n.353T>G
n.3355T>G
c.4487T>G (p.Phe1496Cys)
c.4115T>G (p.Phe1372Cys)
c.4271T>G (p.Phe1424Cys)
c.4478T>G (p.Phe1493Cys)
c.3779T>G (p.Phe1260Cys)
c.4526T>G (p.Phe1509Cys)
dbSNP
16g.3736678A>GCA394563416CREBBPc.4532T>C (p.Phe1511Ser)
c.4418T>C (p.Phe1473Ser)
c.3167T>C (p.Phe1056Ser)
n.322T>C
n.353T>C
n.3355T>C
c.4487T>C (p.Phe1496Ser)
c.4115T>C (p.Phe1372Ser)
c.4271T>C (p.Phe1424Ser)
c.4478T>C (p.Phe1493Ser)
c.3779T>C (p.Phe1260Ser)
c.4526T>C (p.Phe1509Ser)
dbSNP gnomAD v4
16g.3736678A>TCA394563417CREBBPc.4532T>A (p.Phe1511Tyr)
c.4418T>A (p.Phe1473Tyr)
c.3167T>A (p.Phe1056Tyr)
n.322T>A
n.353T>A
n.3355T>A
c.4487T>A (p.Phe1496Tyr)
c.4115T>A (p.Phe1372Tyr)
c.4271T>A (p.Phe1424Tyr)
c.4478T>A (p.Phe1493Tyr)
c.3779T>A (p.Phe1260Tyr)
c.4526T>A (p.Phe1509Tyr)
dbSNP
16g.3736679A>CCA394563421CREBBPc.4531T>G (p.Phe1511Val)
c.4417T>G (p.Phe1473Val)
c.3166T>G (p.Phe1056Val)
n.321T>G
n.352T>G
n.3354T>G
c.4486T>G (p.Phe1496Val)
c.4114T>G (p.Phe1372Val)
c.4270T>G (p.Phe1424Val)
c.4477T>G (p.Phe1493Val)
c.3778T>G (p.Phe1260Val)
c.4525T>G (p.Phe1509Val)
dbSNP
16g.3736679A>GCA394563424CREBBPc.4531T>C (p.Phe1511Leu)
c.4417T>C (p.Phe1473Leu)
c.3166T>C (p.Phe1056Leu)
n.321T>C
n.352T>C
n.3354T>C
c.4486T>C (p.Phe1496Leu)
c.4114T>C (p.Phe1372Leu)
c.4270T>C (p.Phe1424Leu)
c.4477T>C (p.Phe1493Leu)
c.3778T>C (p.Phe1260Leu)
c.4525T>C (p.Phe1509Leu)
dbSNP
16g.3736679A>TCA394563426CREBBPc.4531T>A (p.Phe1511Ile)
c.4417T>A (p.Phe1473Ile)
c.3166T>A (p.Phe1056Ile)
n.321T>A
n.352T>A
n.3354T>A
c.4486T>A (p.Phe1496Ile)
c.4114T>A (p.Phe1372Ile)
c.4270T>A (p.Phe1424Ile)
c.4477T>A (p.Phe1493Ile)
c.3778T>A (p.Phe1260Ile)
c.4525T>A (p.Phe1509Ile)
dbSNP
16g.3736680C>ACA7869512CREBBPc.4530G>T (p.Ala1510=)
c.4416G>T (p.Ala1472=)
c.3165G>T (p.Ala1055=)
n.320G>T
n.351G>T
n.3353G>T
c.4485G>T (p.Ala1495=)
c.4113G>T (p.Ala1371=)
c.4269G>T (p.Ala1423=)
c.4476G>T (p.Ala1492=)
c.3777G>T (p.Ala1259=)
c.4524G>T (p.Ala1508=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736680C=CA2202936571CREBBPc.4530G= (p.Ala1510=)
c.4416G= (p.Ala1472=)
c.3165G= (p.Ala1055=)
n.320G=
n.351G=
n.3353G=
c.4485G= (p.Ala1495=)
c.4113G= (p.Ala1371=)
c.4269G= (p.Ala1423=)
c.4476G= (p.Ala1492=)
c.3777G= (p.Ala1259=)
c.4524G= (p.Ala1508=)
16g.3736680C>GCA493279194CREBBPc.4530G>C (p.Ala1510=)
c.4416G>C (p.Ala1472=)
c.3165G>C (p.Ala1055=)
n.320G>C
n.351G>C
n.3353G>C
c.4485G>C (p.Ala1495=)
c.4113G>C (p.Ala1371=)
c.4269G>C (p.Ala1423=)
c.4476G>C (p.Ala1492=)
c.3777G>C (p.Ala1259=)
c.4524G>C (p.Ala1508=)
dbSNP
16g.3736680C>TCA7869511CREBBPc.4530G>A (p.Ala1510=)
c.4416G>A (p.Ala1472=)
c.3165G>A (p.Ala1055=)
n.320G>A
n.351G>A
n.3353G>A
c.4485G>A (p.Ala1495=)
c.4113G>A (p.Ala1371=)
c.4269G>A (p.Ala1423=)
c.4476G>A (p.Ala1492=)
c.3777G>A (p.Ala1259=)
c.4524G>A (p.Ala1508=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736681G>ACA7869513CREBBPc.4529C>T (p.Ala1510Val)
c.4415C>T (p.Ala1472Val)
c.3164C>T (p.Ala1055Val)
n.319C>T
n.350C>T
n.3352C>T
c.4484C>T (p.Ala1495Val)
c.4112C>T (p.Ala1371Val)
c.4268C>T (p.Ala1423Val)
c.4475C>T (p.Ala1492Val)
c.3776C>T (p.Ala1259Val)
c.4523C>T (p.Ala1508Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3736681G>CCA394563434CREBBPc.4529C>G (p.Ala1510Gly)
c.4415C>G (p.Ala1472Gly)
c.3164C>G (p.Ala1055Gly)
n.319C>G
n.350C>G
n.3352C>G
c.4484C>G (p.Ala1495Gly)
c.4112C>G (p.Ala1371Gly)
c.4268C>G (p.Ala1423Gly)
c.4475C>G (p.Ala1492Gly)
c.3776C>G (p.Ala1259Gly)
c.4523C>G (p.Ala1508Gly)
dbSNP gnomAD v4
16g.3736681G=CA2202936573CREBBPc.4529C= (p.Ala1510=)
c.4415C= (p.Ala1472=)
c.3164C= (p.Ala1055=)
n.319C=
n.350C=
n.3352C=
c.4484C= (p.Ala1495=)
c.4112C= (p.Ala1371=)
c.4268C= (p.Ala1423=)
c.4475C= (p.Ala1492=)
c.3776C= (p.Ala1259=)
c.4523C= (p.Ala1508=)
16g.3736681G>TCA394563436CREBBPc.4529C>A (p.Ala1510Glu)
c.4415C>A (p.Ala1472Glu)
c.3164C>A (p.Ala1055Glu)
n.319C>A
n.350C>A
n.3352C>A
c.4484C>A (p.Ala1495Glu)
c.4112C>A (p.Ala1371Glu)
c.4268C>A (p.Ala1423Glu)
c.4475C>A (p.Ala1492Glu)
c.3776C>A (p.Ala1259Glu)
c.4523C>A (p.Ala1508Glu)
dbSNP
16g.3736682C>ACA394563437CREBBPc.4528G>T (p.Ala1510Ser)
c.4414G>T (p.Ala1472Ser)
c.3163G>T (p.Ala1055Ser)
n.318G>T
n.349G>T
n.3351G>T
c.4483G>T (p.Ala1495Ser)
c.4111G>T (p.Ala1371Ser)
c.4267G>T (p.Ala1423Ser)
c.4474G>T (p.Ala1492Ser)
c.3775G>T (p.Ala1259Ser)
c.4522G>T (p.Ala1508Ser)
dbSNP COSMIC
16g.3736682C>GCA394563439CREBBPc.4528G>C (p.Ala1510Pro)
c.4414G>C (p.Ala1472Pro)
c.3163G>C (p.Ala1055Pro)
n.318G>C
n.349G>C
n.3351G>C
c.4483G>C (p.Ala1495Pro)
c.4111G>C (p.Ala1371Pro)
c.4267G>C (p.Ala1423Pro)
c.4474G>C (p.Ala1492Pro)
c.3775G>C (p.Ala1259Pro)
c.4522G>C (p.Ala1508Pro)
dbSNP
16g.3736682C>TCA394563440CREBBPc.4528G>A (p.Ala1510Thr)
c.4414G>A (p.Ala1472Thr)
c.3163G>A (p.Ala1055Thr)
n.318G>A
n.349G>A
n.3351G>A
c.4483G>A (p.Ala1495Thr)
c.4111G>A (p.Ala1371Thr)
c.4267G>A (p.Ala1423Thr)
c.4474G>A (p.Ala1492Thr)
c.3775G>A (p.Ala1259Thr)
c.4522G>A (p.Ala1508Thr)
dbSNP
16g.3736683C>ACA394563442CREBBPc.4527G>T (p.Lys1509Asn)
c.4413G>T (p.Lys1471Asn)
c.3162G>T (p.Lys1054Asn)
n.317G>T
n.348G>T
n.3350G>T
c.4482G>T (p.Lys1494Asn)
c.4110G>T (p.Lys1370Asn)
c.4266G>T (p.Lys1422Asn)
c.4473G>T (p.Lys1491Asn)
c.3774G>T (p.Lys1258Asn)
c.4521G>T (p.Lys1507Asn)
dbSNP
16g.3736683C=CA2202936576CREBBPc.4527G= (p.Lys1509=)
c.4413G= (p.Lys1471=)
c.3162G= (p.Lys1054=)
n.317G=
n.348G=
n.3350G=
c.4482G= (p.Lys1494=)
c.4110G= (p.Lys1370=)
c.4266G= (p.Lys1422=)
c.4473G= (p.Lys1491=)
c.3774G= (p.Lys1258=)
c.4521G= (p.Lys1507=)
16g.3736683C>GCA394563443CREBBPc.4527G>C (p.Lys1509Asn)
c.4413G>C (p.Lys1471Asn)
c.3162G>C (p.Lys1054Asn)
n.317G>C
n.348G>C
n.3350G>C
c.4482G>C (p.Lys1494Asn)
c.4110G>C (p.Lys1370Asn)
c.4266G>C (p.Lys1422Asn)
c.4473G>C (p.Lys1491Asn)
c.3774G>C (p.Lys1258Asn)
c.4521G>C (p.Lys1507Asn)
dbSNP
16g.3736683C>TCA493279206CREBBPc.4527G>A (p.Lys1509=)
c.4413G>A (p.Lys1471=)
c.3162G>A (p.Lys1054=)
n.317G>A
n.348G>A
n.3350G>A
c.4482G>A (p.Lys1494=)
c.4110G>A (p.Lys1370=)
c.4266G>A (p.Lys1422=)
c.4473G>A (p.Lys1491=)
c.3774G>A (p.Lys1258=)
c.4521G>A (p.Lys1507=)
dbSNP
16g.3736684T>ACA394563446CREBBPc.4526A>T (p.Lys1509Met)
c.4412A>T (p.Lys1471Met)
c.3161A>T (p.Lys1054Met)
n.316A>T
n.347A>T
n.3349A>T
c.4481A>T (p.Lys1494Met)
c.4109A>T (p.Lys1370Met)
c.4265A>T (p.Lys1422Met)
c.4472A>T (p.Lys1491Met)
c.3773A>T (p.Lys1258Met)
c.4520A>T (p.Lys1507Met)
dbSNP
16g.3736684T>CCA394563449CREBBPc.4526A>G (p.Lys1509Arg)
c.4412A>G (p.Lys1471Arg)
c.3161A>G (p.Lys1054Arg)
n.316A>G
n.347A>G
n.3349A>G
c.4481A>G (p.Lys1494Arg)
c.4109A>G (p.Lys1370Arg)
c.4265A>G (p.Lys1422Arg)
c.4472A>G (p.Lys1491Arg)
c.3773A>G (p.Lys1258Arg)
c.4520A>G (p.Lys1507Arg)
dbSNP
16g.3736684T>GCA394563451CREBBPc.4526A>C (p.Lys1509Thr)
c.4412A>C (p.Lys1471Thr)
c.3161A>C (p.Lys1054Thr)
n.316A>C
n.347A>C
n.3349A>C
c.4481A>C (p.Lys1494Thr)
c.4109A>C (p.Lys1370Thr)
c.4265A>C (p.Lys1422Thr)
c.4472A>C (p.Lys1491Thr)
c.3773A>C (p.Lys1258Thr)
c.4520A>C (p.Lys1507Thr)
16g.3736685T>ACA394563453CREBBPc.4525A>T (p.Lys1509Ter)
c.4411A>T (p.Lys1471Ter)
c.3160A>T (p.Lys1054Ter)
n.315A>T
n.346A>T
n.3348A>T
c.4480A>T (p.Lys1494Ter)
c.4108A>T (p.Lys1370Ter)
c.4264A>T (p.Lys1422Ter)
c.4471A>T (p.Lys1491Ter)
c.3772A>T (p.Lys1258Ter)
c.4519A>T (p.Lys1507Ter)
dbSNP
16g.3736685T>CCA394563455CREBBPc.4525A>G (p.Lys1509Glu)
c.4411A>G (p.Lys1471Glu)
c.3160A>G (p.Lys1054Glu)
n.315A>G
n.346A>G
n.3348A>G
c.4480A>G (p.Lys1494Glu)
c.4108A>G (p.Lys1370Glu)
c.4264A>G (p.Lys1422Glu)
c.4471A>G (p.Lys1491Glu)
c.3772A>G (p.Lys1258Glu)
c.4519A>G (p.Lys1507Glu)
16g.3736685T>GCA394563458CREBBPc.4525A>C (p.Lys1509Gln)
c.4411A>C (p.Lys1471Gln)
c.3160A>C (p.Lys1054Gln)
n.315A>C
n.346A>C
n.3348A>C
c.4480A>C (p.Lys1494Gln)
c.4108A>C (p.Lys1370Gln)
c.4264A>C (p.Lys1422Gln)
c.4471A>C (p.Lys1491Gln)
c.3772A>C (p.Lys1258Gln)
c.4519A>C (p.Lys1507Gln)
16g.3736686G>ACA493279215CREBBPc.4524C>T (p.Asp1508=)
c.4410C>T (p.Asp1470=)
c.3159C>T (p.Asp1053=)
n.314C>T
n.345C>T
n.3347C>T
c.4479C>T (p.Asp1493=)
c.4107C>T (p.Asp1369=)
c.4263C>T (p.Asp1421=)
c.4470C>T (p.Asp1490=)
c.3771C>T (p.Asp1257=)
c.4518C>T (p.Asp1506=)
dbSNP gnomAD v2
16g.3736686G>CCA394563463CREBBPc.4524C>G (p.Asp1508Glu)
c.4410C>G (p.Asp1470Glu)
c.3159C>G (p.Asp1053Glu)
n.314C>G
n.345C>G
n.3347C>G
c.4479C>G (p.Asp1493Glu)
c.4107C>G (p.Asp1369Glu)
c.4263C>G (p.Asp1421Glu)
c.4470C>G (p.Asp1490Glu)
c.3771C>G (p.Asp1257Glu)
c.4518C>G (p.Asp1506Glu)
dbSNP
16g.3736686G=CA2202936579CREBBPc.4524C= (p.Asp1508=)
c.4410C= (p.Asp1470=)
c.3159C= (p.Asp1053=)
n.314C=
n.345C=
n.3347C=
c.4479C= (p.Asp1493=)
c.4107C= (p.Asp1369=)
c.4263C= (p.Asp1421=)
c.4470C= (p.Asp1490=)
c.3771C= (p.Asp1257=)
c.4518C= (p.Asp1506=)
16g.3736686G>TCA394563461CREBBPc.4524C>A (p.Asp1508Glu)
c.4410C>A (p.Asp1470Glu)
c.3159C>A (p.Asp1053Glu)
n.314C>A
n.345C>A
n.3347C>A
c.4479C>A (p.Asp1493Glu)
c.4107C>A (p.Asp1369Glu)
c.4263C>A (p.Asp1421Glu)
c.4470C>A (p.Asp1490Glu)
c.3771C>A (p.Asp1257Glu)
c.4518C>A (p.Asp1506Glu)
gnomAD v4
16g.3736687T>ACA394563466CREBBPc.4523A>T (p.Asp1508Val)
c.4409A>T (p.Asp1470Val)
c.3158A>T (p.Asp1053Val)
n.313A>T
n.344A>T
n.3346A>T
c.4478A>T (p.Asp1493Val)
c.4106A>T (p.Asp1369Val)
c.4262A>T (p.Asp1421Val)
c.4469A>T (p.Asp1490Val)
c.3770A>T (p.Asp1257Val)
c.4517A>T (p.Asp1506Val)
dbSNP
16g.3736687T>CCA394563468CREBBPc.4523A>G (p.Asp1508Gly)
c.4409A>G (p.Asp1470Gly)
c.3158A>G (p.Asp1053Gly)
n.313A>G
n.344A>G
n.3346A>G
c.4478A>G (p.Asp1493Gly)
c.4106A>G (p.Asp1369Gly)
c.4262A>G (p.Asp1421Gly)
c.4469A>G (p.Asp1490Gly)
c.3770A>G (p.Asp1257Gly)
c.4517A>G (p.Asp1506Gly)
16g.3736687T>GCA394563470CREBBPc.4523A>C (p.Asp1508Ala)
c.4409A>C (p.Asp1470Ala)
c.3158A>C (p.Asp1053Ala)
n.313A>C
n.344A>C
n.3346A>C
c.4478A>C (p.Asp1493Ala)
c.4106A>C (p.Asp1369Ala)
c.4262A>C (p.Asp1421Ala)
c.4469A>C (p.Asp1490Ala)
c.3770A>C (p.Asp1257Ala)
c.4517A>C (p.Asp1506Ala)
dbSNP
16g.3736688C>ACA394563471CREBBPc.4522G>T (p.Asp1508Tyr)
c.4408G>T (p.Asp1470Tyr)
c.3157G>T (p.Asp1053Tyr)
n.312G>T
n.343G>T
n.3345G>T
c.4477G>T (p.Asp1493Tyr)
c.4105G>T (p.Asp1369Tyr)
c.4261G>T (p.Asp1421Tyr)
c.4468G>T (p.Asp1490Tyr)
c.3769G>T (p.Asp1257Tyr)
c.4516G>T (p.Asp1506Tyr)
dbSNP
16g.3736688C>GCA394563472CREBBPc.4522G>C (p.Asp1508His)
c.4408G>C (p.Asp1470His)
c.3157G>C (p.Asp1053His)
n.312G>C
n.343G>C
n.3345G>C
c.4477G>C (p.Asp1493His)
c.4105G>C (p.Asp1369His)
c.4261G>C (p.Asp1421His)
c.4468G>C (p.Asp1490His)
c.3769G>C (p.Asp1257His)
c.4516G>C (p.Asp1506His)
dbSNP
16g.3736688C>TCA394563474CREBBPc.4522G>A (p.Asp1508Asn)
c.4408G>A (p.Asp1470Asn)
c.3157G>A (p.Asp1053Asn)
n.312G>A
n.343G>A
n.3345G>A
c.4477G>A (p.Asp1493Asn)
c.4105G>A (p.Asp1369Asn)
c.4261G>A (p.Asp1421Asn)
c.4468G>A (p.Asp1490Asn)
c.3769G>A (p.Asp1257Asn)
c.4516G>A (p.Asp1506Asn)
dbSNP
16g.3736689C>ACA493279222CREBBPc.4521G>T (p.Leu1507=)
c.4407G>T (p.Leu1469=)
c.3156G>T (p.Leu1052=)
n.311G>T
n.342G>T
n.3344G>T
c.4476G>T (p.Leu1492=)
c.4104G>T (p.Leu1368=)
c.4260G>T (p.Leu1420=)
c.4467G>T (p.Leu1489=)
c.3768G>T (p.Leu1256=)
c.4515G>T (p.Leu1505=)
dbSNP
16g.3736689C=CA2202936580CREBBPc.4521G= (p.Leu1507=)
c.4407G= (p.Leu1469=)
c.3156G= (p.Leu1052=)
n.311G=
n.342G=
n.3344G=
c.4476G= (p.Leu1492=)
c.4104G= (p.Leu1368=)
c.4260G= (p.Leu1420=)
c.4467G= (p.Leu1489=)
c.3768G= (p.Leu1256=)
c.4515G= (p.Leu1505=)
16g.3736689C>GCA493279223CREBBPc.4521G>C (p.Leu1507=)
c.4407G>C (p.Leu1469=)
c.3156G>C (p.Leu1052=)
n.311G>C
n.342G>C
n.3344G>C
c.4476G>C (p.Leu1492=)
c.4104G>C (p.Leu1368=)
c.4260G>C (p.Leu1420=)
c.4467G>C (p.Leu1489=)
c.3768G>C (p.Leu1256=)
c.4515G>C (p.Leu1505=)
16g.3736689C>TCA493279225CREBBPc.4521G>A (p.Leu1507=)
c.4407G>A (p.Leu1469=)
c.3156G>A (p.Leu1052=)
n.311G>A
n.342G>A
n.3344G>A
c.4476G>A (p.Leu1492=)
c.4104G>A (p.Leu1368=)
c.4260G>A (p.Leu1420=)
c.4467G>A (p.Leu1489=)
c.3768G>A (p.Leu1256=)
c.4515G>A (p.Leu1505=)
dbSNP gnomAD v2 gnomAD v4
16g.3736690A=CA2202936586CREBBPc.4520T= (p.Leu1507=)
c.4406T= (p.Leu1469=)
c.3155T= (p.Leu1052=)
n.310T=
n.341T=
n.3343T=
c.4475T= (p.Leu1492=)
c.4103T= (p.Leu1368=)
c.4259T= (p.Leu1420=)
c.4466T= (p.Leu1489=)
c.3767T= (p.Leu1256=)
c.4514T= (p.Leu1505=)
16g.3736690A>CCA394563477CREBBPc.4520T>G (p.Leu1507Arg)
c.4406T>G (p.Leu1469Arg)
c.3155T>G (p.Leu1052Arg)
n.310T>G
n.341T>G
n.3343T>G
c.4475T>G (p.Leu1492Arg)
c.4103T>G (p.Leu1368Arg)
c.4259T>G (p.Leu1420Arg)
c.4466T>G (p.Leu1489Arg)
c.3767T>G (p.Leu1256Arg)
c.4514T>G (p.Leu1505Arg)
16g.3736690A>GCA16603336CREBBPc.4520T>C (p.Leu1507Pro)
c.4406T>C (p.Leu1469Pro)
c.3155T>C (p.Leu1052Pro)
n.310T>C
n.341T>C
n.3343T>C
c.4475T>C (p.Leu1492Pro)
c.4103T>C (p.Leu1368Pro)
c.4259T>C (p.Leu1420Pro)
c.4466T>C (p.Leu1489Pro)
c.3767T>C (p.Leu1256Pro)
c.4514T>C (p.Leu1505Pro)
ClinVar dbSNP COSMIC
16g.3736690A>TCA394563476CREBBPc.4520T>A (p.Leu1507Gln)
c.4406T>A (p.Leu1469Gln)
c.3155T>A (p.Leu1052Gln)
n.310T>A
n.341T>A
n.3343T>A
c.4475T>A (p.Leu1492Gln)
c.4103T>A (p.Leu1368Gln)
c.4259T>A (p.Leu1420Gln)
c.4466T>A (p.Leu1489Gln)
c.3767T>A (p.Leu1256Gln)
c.4514T>A (p.Leu1505Gln)
dbSNP
16g.3736691G>ACA493279231CREBBPc.4519C>T (p.Leu1507=)
c.4405C>T (p.Leu1469=)
c.3154C>T (p.Leu1052=)
n.309C>T
n.340C>T
n.3342C>T
c.4474C>T (p.Leu1492=)
c.4102C>T (p.Leu1368=)
c.4258C>T (p.Leu1420=)
c.4465C>T (p.Leu1489=)
c.3766C>T (p.Leu1256=)
c.4513C>T (p.Leu1505=)
dbSNP
16g.3736691G>CCA394563479CREBBPc.4519C>G (p.Leu1507Val)
c.4405C>G (p.Leu1469Val)
c.3154C>G (p.Leu1052Val)
n.309C>G
n.340C>G
n.3342C>G
c.4474C>G (p.Leu1492Val)
c.4102C>G (p.Leu1368Val)
c.4258C>G (p.Leu1420Val)
c.4465C>G (p.Leu1489Val)
c.3766C>G (p.Leu1256Val)
c.4513C>G (p.Leu1505Val)
dbSNP gnomAD v4
16g.3736691G>TCA394563482CREBBPc.4519C>A (p.Leu1507Met)
c.4405C>A (p.Leu1469Met)
c.3154C>A (p.Leu1052Met)
n.309C>A
n.340C>A
n.3342C>A
c.4474C>A (p.Leu1492Met)
c.4102C>A (p.Leu1368Met)
c.4258C>A (p.Leu1420Met)
c.4465C>A (p.Leu1489Met)
c.3766C>A (p.Leu1256Met)
c.4513C>A (p.Leu1505Met)
dbSNP
16g.3736692C>ACA394563485CREBBPc.4518G>T (p.Met1506Ile)
c.4404G>T (p.Met1468Ile)
c.3153G>T (p.Met1051Ile)
n.308G>T
n.339G>T
n.3341G>T
c.4473G>T (p.Met1491Ile)
c.4101G>T (p.Met1367Ile)
c.4257G>T (p.Met1419Ile)
c.4464G>T (p.Met1488Ile)
c.3765G>T (p.Met1255Ile)
c.4512G>T (p.Met1504Ile)
dbSNP gnomAD v4
16g.3736692C=CA2202936592CREBBPc.4518G= (p.Met1506=)
c.4404G= (p.Met1468=)
c.3153G= (p.Met1051=)
n.308G=
n.339G=
n.3341G=
c.4473G= (p.Met1491=)
c.4101G= (p.Met1367=)
c.4257G= (p.Met1419=)
c.4464G= (p.Met1488=)
c.3765G= (p.Met1255=)
c.4512G= (p.Met1504=)
16g.3736692C>GCA394563486CREBBPc.4518G>C (p.Met1506Ile)
c.4404G>C (p.Met1468Ile)
c.3153G>C (p.Met1051Ile)
n.308G>C
n.339G>C
n.3341G>C
c.4473G>C (p.Met1491Ile)
c.4101G>C (p.Met1367Ile)
c.4257G>C (p.Met1419Ile)
c.4464G>C (p.Met1488Ile)
c.3765G>C (p.Met1255Ile)
c.4512G>C (p.Met1504Ile)
dbSNP gnomAD v3 gnomAD v4
16g.3736692C>TCA394563487CREBBPc.4518G>A (p.Met1506Ile)
c.4404G>A (p.Met1468Ile)
c.3153G>A (p.Met1051Ile)
n.308G>A
n.339G>A
n.3341G>A
c.4473G>A (p.Met1491Ile)
c.4101G>A (p.Met1367Ile)
c.4257G>A (p.Met1419Ile)
c.4464G>A (p.Met1488Ile)
c.3765G>A (p.Met1255Ile)
c.4512G>A (p.Met1504Ile)
dbSNP
16g.3736693A>CCA394563490CREBBPc.4517T>G (p.Met1506Arg)
c.4403T>G (p.Met1468Arg)
c.3152T>G (p.Met1051Arg)
n.307T>G
n.338T>G
n.3340T>G
c.4472T>G (p.Met1491Arg)
c.4100T>G (p.Met1367Arg)
c.4256T>G (p.Met1419Arg)
c.4463T>G (p.Met1488Arg)
c.3764T>G (p.Met1255Arg)
c.4511T>G (p.Met1504Arg)
16g.3736693A>GCA394563493CREBBPc.4517T>C (p.Met1506Thr)
c.4403T>C (p.Met1468Thr)
c.3152T>C (p.Met1051Thr)
n.307T>C
n.338T>C
n.3340T>C
c.4472T>C (p.Met1491Thr)
c.4100T>C (p.Met1367Thr)
c.4256T>C (p.Met1419Thr)
c.4463T>C (p.Met1488Thr)
c.3764T>C (p.Met1255Thr)
c.4511T>C (p.Met1504Thr)
16g.3736693A>TCA394563492CREBBPc.4517T>A (p.Met1506Lys)
c.4403T>A (p.Met1468Lys)
c.3152T>A (p.Met1051Lys)
n.307T>A
n.338T>A
n.3340T>A
c.4472T>A (p.Met1491Lys)
c.4100T>A (p.Met1367Lys)
c.4256T>A (p.Met1419Lys)
c.4463T>A (p.Met1488Lys)
c.3764T>A (p.Met1255Lys)
c.4511T>A (p.Met1504Lys)
dbSNP
16g.3736694T>ACA394563495CREBBPc.4516A>T (p.Met1506Leu)
c.4402A>T (p.Met1468Leu)
c.3151A>T (p.Met1051Leu)
n.306A>T
n.337A>T
n.3339A>T
c.4471A>T (p.Met1491Leu)
c.4099A>T (p.Met1367Leu)
c.4255A>T (p.Met1419Leu)
c.4462A>T (p.Met1488Leu)
c.3763A>T (p.Met1255Leu)
c.4510A>T (p.Met1504Leu)
dbSNP
16g.3736694T>CCA394563498CREBBPc.4516A>G (p.Met1506Val)
c.4402A>G (p.Met1468Val)
c.3151A>G (p.Met1051Val)
n.306A>G
n.337A>G
n.3339A>G
c.4471A>G (p.Met1491Val)
c.4099A>G (p.Met1367Val)
c.4255A>G (p.Met1419Val)
c.4462A>G (p.Met1488Val)
c.3763A>G (p.Met1255Val)
c.4510A>G (p.Met1504Val)
gnomAD v4
16g.3736694T>GCA394563501CREBBPc.4516A>C (p.Met1506Leu)
c.4402A>C (p.Met1468Leu)
c.3151A>C (p.Met1051Leu)
n.306A>C
n.337A>C
n.3339A>C
c.4471A>C (p.Met1491Leu)
c.4099A>C (p.Met1367Leu)
c.4255A>C (p.Met1419Leu)
c.4462A>C (p.Met1488Leu)
c.3763A>C (p.Met1255Leu)
c.4510A>C (p.Met1504Leu)
dbSNP
16g.3736695C>ACA394563504CREBBPc.4515G>T (p.Lys1505Asn)
c.4401G>T (p.Lys1467Asn)
c.3150G>T (p.Lys1050Asn)
n.305G>T
n.336G>T
n.3338G>T
c.4470G>T (p.Lys1490Asn)
c.4098G>T (p.Lys1366Asn)
c.4254G>T (p.Lys1418Asn)
c.4461G>T (p.Lys1487Asn)
c.3762G>T (p.Lys1254Asn)
c.4509G>T (p.Lys1503Asn)
16g.3736695C>GCA394563506CREBBPc.4515G>C (p.Lys1505Asn)
c.4401G>C (p.Lys1467Asn)
c.3150G>C (p.Lys1050Asn)
n.305G>C
n.336G>C
n.3338G>C
c.4470G>C (p.Lys1490Asn)
c.4098G>C (p.Lys1366Asn)
c.4254G>C (p.Lys1418Asn)
c.4461G>C (p.Lys1487Asn)
c.3762G>C (p.Lys1254Asn)
c.4509G>C (p.Lys1503Asn)
16g.3736695C>TCA493279245CREBBPc.4515G>A (p.Lys1505=)
c.4401G>A (p.Lys1467=)
c.3150G>A (p.Lys1050=)
n.305G>A
n.336G>A
n.3338G>A
c.4470G>A (p.Lys1490=)
c.4098G>A (p.Lys1366=)
c.4254G>A (p.Lys1418=)
c.4461G>A (p.Lys1487=)
c.3762G>A (p.Lys1254=)
c.4509G>A (p.Lys1503=)
16g.3736696T>ACA394563510CREBBPc.4514A>T (p.Lys1505Met)
c.4400A>T (p.Lys1467Met)
c.3149A>T (p.Lys1050Met)
n.304A>T
n.335A>T
n.3337A>T
c.4469A>T (p.Lys1490Met)
c.4097A>T (p.Lys1366Met)
c.4253A>T (p.Lys1418Met)
c.4460A>T (p.Lys1487Met)
c.3761A>T (p.Lys1254Met)
c.4508A>T (p.Lys1503Met)
dbSNP
16g.3736696T>CCA394563511CREBBPc.4514A>G (p.Lys1505Arg)
c.4400A>G (p.Lys1467Arg)
c.3149A>G (p.Lys1050Arg)
n.304A>G
n.335A>G
n.3337A>G
c.4469A>G (p.Lys1490Arg)
c.4097A>G (p.Lys1366Arg)
c.4253A>G (p.Lys1418Arg)
c.4460A>G (p.Lys1487Arg)
c.3761A>G (p.Lys1254Arg)
c.4508A>G (p.Lys1503Arg)
dbSNP
16g.3736696T>GCA394563514CREBBPc.4514A>C (p.Lys1505Thr)
c.4400A>C (p.Lys1467Thr)
c.3149A>C (p.Lys1050Thr)
n.304A>C
n.335A>C
n.3337A>C
c.4469A>C (p.Lys1490Thr)
c.4097A>C (p.Lys1366Thr)
c.4253A>C (p.Lys1418Thr)
c.4460A>C (p.Lys1487Thr)
c.3761A>C (p.Lys1254Thr)
c.4508A>C (p.Lys1503Thr)
16g.3736697T>ACA394563517CREBBPc.4513A>T (p.Lys1505Ter)
c.4399A>T (p.Lys1467Ter)
c.3148A>T (p.Lys1050Ter)
n.303A>T
n.334A>T
n.3336A>T
c.4468A>T (p.Lys1490Ter)
c.4096A>T (p.Lys1366Ter)
c.4252A>T (p.Lys1418Ter)
c.4459A>T (p.Lys1487Ter)
c.3760A>T (p.Lys1254Ter)
c.4507A>T (p.Lys1503Ter)
dbSNP
16g.3736697T>CCA394563519CREBBPc.4513A>G (p.Lys1505Glu)
c.4399A>G (p.Lys1467Glu)
c.3148A>G (p.Lys1050Glu)
n.303A>G
n.334A>G
n.3336A>G
c.4468A>G (p.Lys1490Glu)
c.4096A>G (p.Lys1366Glu)
c.4252A>G (p.Lys1418Glu)
c.4459A>G (p.Lys1487Glu)
c.3760A>G (p.Lys1254Glu)
c.4507A>G (p.Lys1503Glu)
16g.3736697T>GCA394563520CREBBPc.4513A>C (p.Lys1505Gln)
c.4399A>C (p.Lys1467Gln)
c.3148A>C (p.Lys1050Gln)
n.303A>C
n.334A>C
n.3336A>C
c.4468A>C (p.Lys1490Gln)
c.4096A>C (p.Lys1366Gln)
c.4252A>C (p.Lys1418Gln)
c.4459A>C (p.Lys1487Gln)
c.3760A>C (p.Lys1254Gln)
c.4507A>C (p.Lys1503Gln)
16g.3736698T>ACA394563524CREBBPc.4512A>T (p.Lys1504Asn)
c.4398A>T (p.Lys1466Asn)
c.3147A>T (p.Lys1049Asn)
n.302A>T
n.333A>T
n.3335A>T
c.4467A>T (p.Lys1489Asn)
c.4095A>T (p.Lys1365Asn)
c.4251A>T (p.Lys1417Asn)
c.4458A>T (p.Lys1486Asn)
c.3759A>T (p.Lys1253Asn)
c.4506A>T (p.Lys1502Asn)
16g.3736698T>CCA493279254CREBBPc.4512A>G (p.Lys1504=)
c.4398A>G (p.Lys1466=)
c.3147A>G (p.Lys1049=)
n.302A>G
n.333A>G
n.3335A>G
c.4467A>G (p.Lys1489=)
c.4095A>G (p.Lys1365=)
c.4251A>G (p.Lys1417=)
c.4458A>G (p.Lys1486=)
c.3759A>G (p.Lys1253=)
c.4506A>G (p.Lys1502=)
dbSNP
16g.3736698T>GCA394563526CREBBPc.4512A>C (p.Lys1504Asn)
c.4398A>C (p.Lys1466Asn)
c.3147A>C (p.Lys1049Asn)
n.302A>C
n.333A>C
n.3335A>C
c.4467A>C (p.Lys1489Asn)
c.4095A>C (p.Lys1365Asn)
c.4251A>C (p.Lys1417Asn)
c.4458A>C (p.Lys1486Asn)
c.3759A>C (p.Lys1253Asn)
c.4506A>C (p.Lys1502Asn)
16g.3736698T=CA2202936595CREBBPc.4512A= (p.Lys1504=)
c.4398A= (p.Lys1466=)
c.3147A= (p.Lys1049=)
n.302A=
n.333A=
n.3335A=
c.4467A= (p.Lys1489=)
c.4095A= (p.Lys1365=)
c.4251A= (p.Lys1417=)
c.4458A= (p.Lys1486=)
c.3759A= (p.Lys1253=)
c.4506A= (p.Lys1502=)
16g.3736699T>ACA394563533CREBBPc.4511A>T (p.Lys1504Ile)
c.4397A>T (p.Lys1466Ile)
c.3146A>T (p.Lys1049Ile)
n.301A>T
n.332A>T
n.3334A>T
c.4466A>T (p.Lys1489Ile)
c.4094A>T (p.Lys1365Ile)
c.4250A>T (p.Lys1417Ile)
c.4457A>T (p.Lys1486Ile)
c.3758A>T (p.Lys1253Ile)
c.4505A>T (p.Lys1502Ile)
dbSNP
16g.3736699T>CCA394563530CREBBPc.4511A>G (p.Lys1504Arg)
c.4397A>G (p.Lys1466Arg)
c.3146A>G (p.Lys1049Arg)
n.301A>G
n.332A>G
n.3334A>G
c.4466A>G (p.Lys1489Arg)
c.4094A>G (p.Lys1365Arg)
c.4250A>G (p.Lys1417Arg)
c.4457A>G (p.Lys1486Arg)
c.3758A>G (p.Lys1253Arg)
c.4505A>G (p.Lys1502Arg)
16g.3736699T>GCA394563529CREBBPc.4511A>C (p.Lys1504Thr)
c.4397A>C (p.Lys1466Thr)
c.3146A>C (p.Lys1049Thr)
n.301A>C
n.332A>C
n.3334A>C
c.4466A>C (p.Lys1489Thr)
c.4094A>C (p.Lys1365Thr)
c.4250A>C (p.Lys1417Thr)
c.4457A>C (p.Lys1486Thr)
c.3758A>C (p.Lys1253Thr)
c.4505A>C (p.Lys1502Thr)
dbSNP
16g.3736700T>ACA394563535CREBBPc.4510A>T (p.Lys1504Ter)
c.4396A>T (p.Lys1466Ter)
c.3145A>T (p.Lys1049Ter)
n.300A>T
n.331A>T
n.3333A>T
c.4465A>T (p.Lys1489Ter)
c.4093A>T (p.Lys1365Ter)
c.4249A>T (p.Lys1417Ter)
c.4456A>T (p.Lys1486Ter)
c.3757A>T (p.Lys1253Ter)
c.4504A>T (p.Lys1502Ter)
16g.3736700T>CCA394563537CREBBPc.4510A>G (p.Lys1504Glu)
c.4396A>G (p.Lys1466Glu)
c.3145A>G (p.Lys1049Glu)
n.300A>G
n.331A>G
n.3333A>G
c.4465A>G (p.Lys1489Glu)
c.4093A>G (p.Lys1365Glu)
c.4249A>G (p.Lys1417Glu)
c.4456A>G (p.Lys1486Glu)
c.3757A>G (p.Lys1253Glu)
c.4504A>G (p.Lys1502Glu)
dbSNP
16g.3736700T>GCA394563539CREBBPc.4510A>C (p.Lys1504Gln)
c.4396A>C (p.Lys1466Gln)
c.3145A>C (p.Lys1049Gln)
n.300A>C
n.331A>C
n.3333A>C
c.4465A>C (p.Lys1489Gln)
c.4093A>C (p.Lys1365Gln)
c.4249A>C (p.Lys1417Gln)
c.4456A>C (p.Lys1486Gln)
c.3757A>C (p.Lys1253Gln)
c.4504A>C (p.Lys1502Gln)
dbSNP
16g.3736701G>ACA493279261CREBBPc.4509C>T (p.Tyr1503=)
c.4395C>T (p.Tyr1465=)
c.3144C>T (p.Tyr1048=)
n.299C>T
n.330C>T
n.3332C>T
c.4464C>T (p.Tyr1488=)
c.4092C>T (p.Tyr1364=)
c.4248C>T (p.Tyr1416=)
c.4455C>T (p.Tyr1485=)
c.3756C>T (p.Tyr1252=)
c.4503C>T (p.Tyr1501=)
16g.3736701G>CCA394563542CREBBPc.4509C>G (p.Tyr1503Ter)
c.4395C>G (p.Tyr1465Ter)
c.3144C>G (p.Tyr1048Ter)
n.299C>G
n.330C>G
n.3332C>G
c.4464C>G (p.Tyr1488Ter)
c.4092C>G (p.Tyr1364Ter)
c.4248C>G (p.Tyr1416Ter)
c.4455C>G (p.Tyr1485Ter)
c.3756C>G (p.Tyr1252Ter)
c.4503C>G (p.Tyr1501Ter)
ClinVar dbSNP
16g.3736701G=CA2202936599CREBBPc.4509C= (p.Tyr1503=)
c.4395C= (p.Tyr1465=)
c.3144C= (p.Tyr1048=)
n.299C=
n.330C=
n.3332C=
c.4464C= (p.Tyr1488=)
c.4092C= (p.Tyr1364=)
c.4248C= (p.Tyr1416=)
c.4455C= (p.Tyr1485=)
c.3756C= (p.Tyr1252=)
c.4503C= (p.Tyr1501=)
16g.3736701G>TCA394563545CREBBPc.4509C>A (p.Tyr1503Ter)
c.4395C>A (p.Tyr1465Ter)
c.3144C>A (p.Tyr1048Ter)
n.299C>A
n.330C>A
n.3332C>A
c.4464C>A (p.Tyr1488Ter)
c.4092C>A (p.Tyr1364Ter)
c.4248C>A (p.Tyr1416Ter)
c.4455C>A (p.Tyr1485Ter)
c.3756C>A (p.Tyr1252Ter)
c.4503C>A (p.Tyr1501Ter)
dbSNP
16g.3736702T>ACA394563547CREBBPc.4508A>T (p.Tyr1503Phe)
c.4394A>T (p.Tyr1465Phe)
c.3143A>T (p.Tyr1048Phe)
n.298A>T
n.329A>T
n.3331A>T
c.4463A>T (p.Tyr1488Phe)
c.4091A>T (p.Tyr1364Phe)
c.4247A>T (p.Tyr1416Phe)
c.4454A>T (p.Tyr1485Phe)
c.3755A>T (p.Tyr1252Phe)
c.4502A>T (p.Tyr1501Phe)
dbSNP COSMIC
16g.3736702T>CCA271419CREBBPc.4508A>G (p.Tyr1503Cys)
c.4394A>G (p.Tyr1465Cys)
c.3143A>G (p.Tyr1048Cys)
n.298A>G
n.329A>G
n.3331A>G
c.4463A>G (p.Tyr1488Cys)
c.4091A>G (p.Tyr1364Cys)
c.4247A>G (p.Tyr1416Cys)
c.4454A>G (p.Tyr1485Cys)
c.3755A>G (p.Tyr1252Cys)
c.4502A>G (p.Tyr1501Cys)
ClinVar dbSNP
16g.3736702T>GCA394563551CREBBPc.4508A>C (p.Tyr1503Ser)
c.4394A>C (p.Tyr1465Ser)
c.3143A>C (p.Tyr1048Ser)
n.298A>C
n.329A>C
n.3331A>C
c.4463A>C (p.Tyr1488Ser)
c.4091A>C (p.Tyr1364Ser)
c.4247A>C (p.Tyr1416Ser)
c.4454A>C (p.Tyr1485Ser)
c.3755A>C (p.Tyr1252Ser)
c.4502A>C (p.Tyr1501Ser)
dbSNP gnomAD v4 COSMIC
16g.3736702T=CA2202936603CREBBPc.4508A= (p.Tyr1503=)
c.4394A= (p.Tyr1465=)
c.3143A= (p.Tyr1048=)
n.298A=
n.329A=
n.3331A=
c.4463A= (p.Tyr1488=)
c.4091A= (p.Tyr1364=)
c.4247A= (p.Tyr1416=)
c.4454A= (p.Tyr1485=)
c.3755A= (p.Tyr1252=)
c.4502A= (p.Tyr1501=)
16g.3736703A>CCA394563554CREBBPc.4507T>G (p.Tyr1503Asp)
c.4393T>G (p.Tyr1465Asp)
c.3142T>G (p.Tyr1048Asp)
n.297T>G
n.328T>G
n.3330T>G
c.4462T>G (p.Tyr1488Asp)
c.4090T>G (p.Tyr1364Asp)
c.4246T>G (p.Tyr1416Asp)
c.4453T>G (p.Tyr1485Asp)
c.3754T>G (p.Tyr1252Asp)
c.4501T>G (p.Tyr1501Asp)
dbSNP COSMIC
16g.3736703A>GCA394563556CREBBPc.4507T>C (p.Tyr1503His)
c.4393T>C (p.Tyr1465His)
c.3142T>C (p.Tyr1048His)
n.297T>C
n.328T>C
n.3330T>C
c.4462T>C (p.Tyr1488His)
c.4090T>C (p.Tyr1364His)
c.4246T>C (p.Tyr1416His)
c.4453T>C (p.Tyr1485His)
c.3754T>C (p.Tyr1252His)
c.4501T>C (p.Tyr1501His)
dbSNP COSMIC
16g.3736703A>TCA394563559CREBBPc.4507T>A (p.Tyr1503Asn)
c.4393T>A (p.Tyr1465Asn)
c.3142T>A (p.Tyr1048Asn)
n.297T>A
n.328T>A
n.3330T>A
c.4462T>A (p.Tyr1488Asn)
c.4090T>A (p.Tyr1364Asn)
c.4246T>A (p.Tyr1416Asn)
c.4453T>A (p.Tyr1485Asn)
c.3754T>A (p.Tyr1252Asn)
c.4501T>A (p.Tyr1501Asn)
dbSNP COSMIC
16g.3736704C>ACA394563562CREBBPc.4506G>T (p.Trp1502Cys)
c.4392G>T (p.Trp1464Cys)
c.3141G>T (p.Trp1047Cys)
n.296G>T
n.327G>T
n.3329G>T
c.4461G>T (p.Trp1487Cys)
c.4089G>T (p.Trp1363Cys)
c.4245G>T (p.Trp1415Cys)
c.4452G>T (p.Trp1484Cys)
c.3753G>T (p.Trp1251Cys)
c.4500G>T (p.Trp1500Cys)
dbSNP COSMIC
16g.3736704C>GCA394563564CREBBPc.4506G>C (p.Trp1502Cys)
c.4392G>C (p.Trp1464Cys)
c.3141G>C (p.Trp1047Cys)
n.296G>C
n.327G>C
n.3329G>C
c.4461G>C (p.Trp1487Cys)
c.4089G>C (p.Trp1363Cys)
c.4245G>C (p.Trp1415Cys)
c.4452G>C (p.Trp1484Cys)
c.3753G>C (p.Trp1251Cys)
c.4500G>C (p.Trp1500Cys)
dbSNP
16g.3736704C>TCA394563567CREBBPc.4506G>A (p.Trp1502Ter)
c.4392G>A (p.Trp1464Ter)
c.3141G>A (p.Trp1047Ter)
n.296G>A
n.327G>A
n.3329G>A
c.4461G>A (p.Trp1487Ter)
c.4089G>A (p.Trp1363Ter)
c.4245G>A (p.Trp1415Ter)
c.4452G>A (p.Trp1484Ter)
c.3753G>A (p.Trp1251Ter)
c.4500G>A (p.Trp1500Ter)
dbSNP COSMIC
16g.3736705C>ACA394563571CREBBPc.4505G>T (p.Trp1502Leu)
c.4391G>T (p.Trp1464Leu)
c.3140G>T (p.Trp1047Leu)
n.295G>T
n.326G>T
n.3328G>T
c.4460G>T (p.Trp1487Leu)
c.4088G>T (p.Trp1363Leu)
c.4244G>T (p.Trp1415Leu)
c.4451G>T (p.Trp1484Leu)
c.3752G>T (p.Trp1251Leu)
c.4499G>T (p.Trp1500Leu)
dbSNP
16g.3736705C>GCA394563574CREBBPc.4505G>C (p.Trp1502Ser)
c.4391G>C (p.Trp1464Ser)
c.3140G>C (p.Trp1047Ser)
n.295G>C
n.326G>C
n.3328G>C
c.4460G>C (p.Trp1487Ser)
c.4088G>C (p.Trp1363Ser)
c.4244G>C (p.Trp1415Ser)
c.4451G>C (p.Trp1484Ser)
c.3752G>C (p.Trp1251Ser)
c.4499G>C (p.Trp1500Ser)
16g.3736705C>TCA394563570CREBBPc.4505G>A (p.Trp1502Ter)
c.4391G>A (p.Trp1464Ter)
c.3140G>A (p.Trp1047Ter)
n.295G>A
n.326G>A
n.3328G>A
c.4460G>A (p.Trp1487Ter)
c.4088G>A (p.Trp1363Ter)
c.4244G>A (p.Trp1415Ter)
c.4451G>A (p.Trp1484Ter)
c.3752G>A (p.Trp1251Ter)
c.4499G>A (p.Trp1500Ter)
dbSNP COSMIC
16g.3736706A>CCA394563576CREBBPc.4504T>G (p.Trp1502Gly)
c.4390T>G (p.Trp1464Gly)
c.3139T>G (p.Trp1047Gly)
n.294T>G
n.325T>G
n.3327T>G
c.4459T>G (p.Trp1487Gly)
c.4087T>G (p.Trp1363Gly)
c.4243T>G (p.Trp1415Gly)
c.4450T>G (p.Trp1484Gly)
c.3751T>G (p.Trp1251Gly)
c.4498T>G (p.Trp1500Gly)
dbSNP
16g.3736706A>GCA394563577CREBBPc.4504T>C (p.Trp1502Arg)
c.4390T>C (p.Trp1464Arg)
c.3139T>C (p.Trp1047Arg)
n.294T>C
n.325T>C
n.3327T>C
c.4459T>C (p.Trp1487Arg)
c.4087T>C (p.Trp1363Arg)
c.4243T>C (p.Trp1415Arg)
c.4450T>C (p.Trp1484Arg)
c.3751T>C (p.Trp1251Arg)
c.4498T>C (p.Trp1500Arg)
dbSNP COSMIC
16g.3736706A>TCA394563579CREBBPc.4504T>A (p.Trp1502Arg)
c.4390T>A (p.Trp1464Arg)
c.3139T>A (p.Trp1047Arg)
n.294T>A
n.325T>A
n.3327T>A
c.4459T>A (p.Trp1487Arg)
c.4087T>A (p.Trp1363Arg)
c.4243T>A (p.Trp1415Arg)
c.4450T>A (p.Trp1484Arg)
c.3751T>A (p.Trp1251Arg)
c.4498T>A (p.Trp1500Arg)
dbSNP
16g.3736707C>ACA394563580CREBBPc.4503G>T (p.Glu1501Asp)
c.4389G>T (p.Glu1463Asp)
c.3138G>T (p.Glu1046Asp)
n.293G>T
n.324G>T
n.3326G>T
c.4458G>T (p.Glu1486Asp)
c.4086G>T (p.Glu1362Asp)
c.4242G>T (p.Glu1414Asp)
c.4449G>T (p.Glu1483Asp)
c.3750G>T (p.Glu1250Asp)
c.4497G>T (p.Glu1499Asp)
16g.3736707C=CA2202936607CREBBPc.4503G= (p.Glu1501=)
c.4389G= (p.Glu1463=)
c.3138G= (p.Glu1046=)
n.293G=
n.324G=
n.3326G=
c.4458G= (p.Glu1486=)
c.4086G= (p.Glu1362=)
c.4242G= (p.Glu1414=)
c.4449G= (p.Glu1483=)
c.3750G= (p.Glu1250=)
c.4497G= (p.Glu1499=)
16g.3736707C>GCA394563582CREBBPc.4503G>C (p.Glu1501Asp)
c.4389G>C (p.Glu1463Asp)
c.3138G>C (p.Glu1046Asp)
n.293G>C
n.324G>C
n.3326G>C
c.4458G>C (p.Glu1486Asp)
c.4086G>C (p.Glu1362Asp)
c.4242G>C (p.Glu1414Asp)
c.4449G>C (p.Glu1483Asp)
c.3750G>C (p.Glu1250Asp)
c.4497G>C (p.Glu1499Asp)
dbSNP
16g.3736707C>TCA7869514CREBBPc.4503G>A (p.Glu1501=)
c.4389G>A (p.Glu1463=)
c.3138G>A (p.Glu1046=)
n.293G>A
n.324G>A
n.3326G>A
c.4458G>A (p.Glu1486=)
c.4086G>A (p.Glu1362=)
c.4242G>A (p.Glu1414=)
c.4449G>A (p.Glu1483=)
c.3750G>A (p.Glu1250=)
c.4497G>A (p.Glu1499=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736709_3736711delCA645575175CREBBPc.4501_4503del (p.Glu1501del)
c.4387_4389del (p.Glu1463del)
c.3136_3138del (p.Glu1046del)
n.291_293del
n.322_324del
n.3324_3326del
c.4456_4458del (p.Glu1486del)
c.4084_4086del (p.Glu1362del)
c.4240_4242del (p.Glu1414del)
c.4447_4449del (p.Glu1483del)
c.3748_3750del (p.Glu1250del)
c.4495_4497del (p.Glu1499del)
COSMIC
16g.3736708T>ACA394563584CREBBPc.4502A>T (p.Glu1501Val)
c.4388A>T (p.Glu1463Val)
c.3137A>T (p.Glu1046Val)
n.292A>T
n.323A>T
n.3325A>T
c.4457A>T (p.Glu1486Val)
c.4085A>T (p.Glu1362Val)
c.4241A>T (p.Glu1414Val)
c.4448A>T (p.Glu1483Val)
c.3749A>T (p.Glu1250Val)
c.4496A>T (p.Glu1499Val)
16g.3736708T>CCA394563586CREBBPc.4502A>G (p.Glu1501Gly)
c.4388A>G (p.Glu1463Gly)
c.3137A>G (p.Glu1046Gly)
n.292A>G
n.323A>G
n.3325A>G
c.4457A>G (p.Glu1486Gly)
c.4085A>G (p.Glu1362Gly)
c.4241A>G (p.Glu1414Gly)
c.4448A>G (p.Glu1483Gly)
c.3749A>G (p.Glu1250Gly)
c.4496A>G (p.Glu1499Gly)
dbSNP
16g.3736708T>GCA394563587CREBBPc.4502A>C (p.Glu1501Ala)
c.4388A>C (p.Glu1463Ala)
c.3137A>C (p.Glu1046Ala)
n.292A>C
n.323A>C
n.3325A>C
c.4457A>C (p.Glu1486Ala)
c.4085A>C (p.Glu1362Ala)
c.4241A>C (p.Glu1414Ala)
c.4448A>C (p.Glu1483Ala)
c.3749A>C (p.Glu1250Ala)
c.4496A>C (p.Glu1499Ala)
16g.3736709C>ACA394563589CREBBPc.4501G>T (p.Glu1501Ter)
c.4387G>T (p.Glu1463Ter)
c.3136G>T (p.Glu1046Ter)
n.291G>T
n.322G>T
n.3324G>T
c.4456G>T (p.Glu1486Ter)
c.4084G>T (p.Glu1362Ter)
c.4240G>T (p.Glu1414Ter)
c.4447G>T (p.Glu1483Ter)
c.3748G>T (p.Glu1250Ter)
c.4495G>T (p.Glu1499Ter)
dbSNP
16g.3736709C>GCA394563591CREBBPc.4501G>C (p.Glu1501Gln)
c.4387G>C (p.Glu1463Gln)
c.3136G>C (p.Glu1046Gln)
n.291G>C
n.322G>C
n.3324G>C
c.4456G>C (p.Glu1486Gln)
c.4084G>C (p.Glu1362Gln)
c.4240G>C (p.Glu1414Gln)
c.4447G>C (p.Glu1483Gln)
c.3748G>C (p.Glu1250Gln)
c.4495G>C (p.Glu1499Gln)
dbSNP
16g.3736709C>TCA394563593CREBBPc.4501G>A (p.Glu1501Lys)
c.4387G>A (p.Glu1463Lys)
c.3136G>A (p.Glu1046Lys)
n.291G>A
n.322G>A
n.3324G>A
c.4456G>A (p.Glu1486Lys)
c.4084G>A (p.Glu1362Lys)
c.4240G>A (p.Glu1414Lys)
c.4447G>A (p.Glu1483Lys)
c.3748G>A (p.Glu1250Lys)
c.4495G>A (p.Glu1499Lys)
dbSNP
16g.3736710C>ACA394563599CREBBPc.4500G>T (p.Gln1500His)
c.4386G>T (p.Gln1462His)
c.3135G>T (p.Gln1045His)
n.290G>T
n.321G>T
n.3323G>T
c.4455G>T (p.Gln1485His)
c.4083G>T (p.Gln1361His)
c.4239G>T (p.Gln1413His)
c.4446G>T (p.Gln1482His)
c.3747G>T (p.Gln1249His)
c.4494G>T (p.Gln1498His)
16g.3736710C>GCA394563596CREBBPc.4500G>C (p.Gln1500His)
c.4386G>C (p.Gln1462His)
c.3135G>C (p.Gln1045His)
n.290G>C
n.321G>C
n.3323G>C
c.4455G>C (p.Gln1485His)
c.4083G>C (p.Gln1361His)
c.4239G>C (p.Gln1413His)
c.4446G>C (p.Gln1482His)
c.3747G>C (p.Gln1249His)
c.4494G>C (p.Gln1498His)
dbSNP
16g.3736710C>TCA493279293CREBBPc.4500G>A (p.Gln1500=)
c.4386G>A (p.Gln1462=)
c.3135G>A (p.Gln1045=)
n.290G>A
n.321G>A
n.3323G>A
c.4455G>A (p.Gln1485=)
c.4083G>A (p.Gln1361=)
c.4239G>A (p.Gln1413=)
c.4446G>A (p.Gln1482=)
c.3747G>A (p.Gln1249=)
c.4494G>A (p.Gln1498=)
dbSNP gnomAD v4
16g.3736711T>ACA394563602CREBBPc.4499A>T (p.Gln1500Leu)
c.4385A>T (p.Gln1462Leu)
c.3134A>T (p.Gln1045Leu)
n.289A>T
n.320A>T
n.3322A>T
c.4454A>T (p.Gln1485Leu)
c.4082A>T (p.Gln1361Leu)
c.4238A>T (p.Gln1413Leu)
c.4445A>T (p.Gln1482Leu)
c.3746A>T (p.Gln1249Leu)
c.4493A>T (p.Gln1498Leu)
COSMIC
16g.3736711T>CCA394563605CREBBPc.4499A>G (p.Gln1500Arg)
c.4385A>G (p.Gln1462Arg)
c.3134A>G (p.Gln1045Arg)
n.289A>G
n.320A>G
n.3322A>G
c.4454A>G (p.Gln1485Arg)
c.4082A>G (p.Gln1361Arg)
c.4238A>G (p.Gln1413Arg)
c.4445A>G (p.Gln1482Arg)
c.3746A>G (p.Gln1249Arg)
c.4493A>G (p.Gln1498Arg)
dbSNP
16g.3736711T>GCA394563607CREBBPc.4499A>C (p.Gln1500Pro)
c.4385A>C (p.Gln1462Pro)
c.3134A>C (p.Gln1045Pro)
n.289A>C
n.320A>C
n.3322A>C
c.4454A>C (p.Gln1485Pro)
c.4082A>C (p.Gln1361Pro)
c.4238A>C (p.Gln1413Pro)
c.4445A>C (p.Gln1482Pro)
c.3746A>C (p.Gln1249Pro)
c.4493A>C (p.Gln1498Pro)
COSMIC
16g.3736712G>ACA394563610CREBBPc.4498C>T (p.Gln1500Ter)
c.4384C>T (p.Gln1462Ter)
c.3133C>T (p.Gln1045Ter)
n.288C>T
n.319C>T
n.3321C>T
c.4453C>T (p.Gln1485Ter)
c.4081C>T (p.Gln1361Ter)
c.4237C>T (p.Gln1413Ter)
c.4444C>T (p.Gln1482Ter)
c.3745C>T (p.Gln1249Ter)
c.4492C>T (p.Gln1498Ter)
dbSNP
16g.3736712G>CCA394563613CREBBPc.4498C>G (p.Gln1500Glu)
c.4384C>G (p.Gln1462Glu)
c.3133C>G (p.Gln1045Glu)
n.288C>G
n.319C>G
n.3321C>G
c.4453C>G (p.Gln1485Glu)
c.4081C>G (p.Gln1361Glu)
c.4237C>G (p.Gln1413Glu)
c.4444C>G (p.Gln1482Glu)
c.3745C>G (p.Gln1249Glu)
c.4492C>G (p.Gln1498Glu)
dbSNP
16g.3736712G>TCA394563616CREBBPc.4498C>A (p.Gln1500Lys)
c.4384C>A (p.Gln1462Lys)
c.3133C>A (p.Gln1045Lys)
n.288C>A
n.319C>A
n.3321C>A
c.4453C>A (p.Gln1485Lys)
c.4081C>A (p.Gln1361Lys)
c.4237C>A (p.Gln1413Lys)
c.4444C>A (p.Gln1482Lys)
c.3745C>A (p.Gln1249Lys)
c.4492C>A (p.Gln1498Lys)
dbSNP
16g.3736713C>ACA493279301CREBBPc.4497G>T (p.Leu1499=)
c.4383G>T (p.Leu1461=)
c.3132G>T (p.Leu1044=)
n.287G>T
n.318G>T
n.3320G>T
c.4452G>T (p.Leu1484=)
c.4080G>T (p.Leu1360=)
c.4236G>T (p.Leu1412=)
c.4443G>T (p.Leu1481=)
c.3744G>T (p.Leu1248=)
c.4491G>T (p.Leu1497=)
dbSNP
16g.3736713C>GCA493279305CREBBPc.4497G>C (p.Leu1499=)
c.4383G>C (p.Leu1461=)
c.3132G>C (p.Leu1044=)
n.287G>C
n.318G>C
n.3320G>C
c.4452G>C (p.Leu1484=)
c.4080G>C (p.Leu1360=)
c.4236G>C (p.Leu1412=)
c.4443G>C (p.Leu1481=)
c.3744G>C (p.Leu1248=)
c.4491G>C (p.Leu1497=)
dbSNP gnomAD v4
16g.3736713C>TCA493279303CREBBPc.4497G>A (p.Leu1499=)
c.4383G>A (p.Leu1461=)
c.3132G>A (p.Leu1044=)
n.287G>A
n.318G>A
n.3320G>A
c.4452G>A (p.Leu1484=)
c.4080G>A (p.Leu1360=)
c.4236G>A (p.Leu1412=)
c.4443G>A (p.Leu1481=)
c.3744G>A (p.Leu1248=)
c.4491G>A (p.Leu1497=)
dbSNP
16g.3736714A>CCA394563618CREBBPc.4496T>G (p.Leu1499Arg)
c.4382T>G (p.Leu1461Arg)
c.3131T>G (p.Leu1044Arg)
n.286T>G
n.317T>G
n.3319T>G
c.4451T>G (p.Leu1484Arg)
c.4079T>G (p.Leu1360Arg)
c.4235T>G (p.Leu1412Arg)
c.4442T>G (p.Leu1481Arg)
c.3743T>G (p.Leu1248Arg)
c.4490T>G (p.Leu1497Arg)
COSMIC
16g.3736714A>GCA394563621CREBBPc.4496T>C (p.Leu1499Pro)
c.4382T>C (p.Leu1461Pro)
c.3131T>C (p.Leu1044Pro)
n.286T>C
n.317T>C
n.3319T>C
c.4451T>C (p.Leu1484Pro)
c.4079T>C (p.Leu1360Pro)
c.4235T>C (p.Leu1412Pro)
c.4442T>C (p.Leu1481Pro)
c.3743T>C (p.Leu1248Pro)
c.4490T>C (p.Leu1497Pro)
gnomAD v4 COSMIC
16g.3736714A>TCA394563624CREBBPc.4496T>A (p.Leu1499Gln)
c.4382T>A (p.Leu1461Gln)
c.3131T>A (p.Leu1044Gln)
n.286T>A
n.317T>A
n.3319T>A
c.4451T>A (p.Leu1484Gln)
c.4079T>A (p.Leu1360Gln)
c.4235T>A (p.Leu1412Gln)
c.4442T>A (p.Leu1481Gln)
c.3743T>A (p.Leu1248Gln)
c.4490T>A (p.Leu1497Gln)
dbSNP COSMIC
16g.3736715G>ACA493279311CREBBPc.4495C>T (p.Leu1499=)
c.4381C>T (p.Leu1461=)
c.3130C>T (p.Leu1044=)
n.285C>T
n.316C>T
n.3318C>T
c.4450C>T (p.Leu1484=)
c.4078C>T (p.Leu1360=)
c.4234C>T (p.Leu1412=)
c.4441C>T (p.Leu1481=)
c.3742C>T (p.Leu1248=)
c.4489C>T (p.Leu1497=)
dbSNP
16g.3736715G>CCA394563628CREBBPc.4495C>G (p.Leu1499Val)
c.4381C>G (p.Leu1461Val)
c.3130C>G (p.Leu1044Val)
n.285C>G
n.316C>G
n.3318C>G
c.4450C>G (p.Leu1484Val)
c.4078C>G (p.Leu1360Val)
c.4234C>G (p.Leu1412Val)
c.4441C>G (p.Leu1481Val)
c.3742C>G (p.Leu1248Val)
c.4489C>G (p.Leu1497Val)
ClinVar dbSNP
16g.3736715G=CA2202936613CREBBPc.4495C= (p.Leu1499=)
c.4381C= (p.Leu1461=)
c.3130C= (p.Leu1044=)
n.285C=
n.316C=
n.3318C=
c.4450C= (p.Leu1484=)
c.4078C= (p.Leu1360=)
c.4234C= (p.Leu1412=)
c.4441C= (p.Leu1481=)
c.3742C= (p.Leu1248=)
c.4489C= (p.Leu1497=)
16g.3736715G>TCA394563629CREBBPc.4495C>A (p.Leu1499Met)
c.4381C>A (p.Leu1461Met)
c.3130C>A (p.Leu1044Met)
n.285C>A
n.316C>A
n.3318C>A
c.4450C>A (p.Leu1484Met)
c.4078C>A (p.Leu1360Met)
c.4234C>A (p.Leu1412Met)
c.4441C>A (p.Leu1481Met)
c.3742C>A (p.Leu1248Met)
c.4489C>A (p.Leu1497Met)
16g.3736716T>ACA493279312CREBBPc.4494A>T (p.Arg1498=)
c.4380A>T (p.Arg1460=)
c.3129A>T (p.Arg1043=)
n.284A>T
n.315A>T
n.3317A>T
c.4449A>T (p.Arg1483=)
c.4077A>T (p.Arg1359=)
c.4233A>T (p.Arg1411=)
c.4440A>T (p.Arg1480=)
c.3741A>T (p.Arg1247=)
c.4488A>T (p.Arg1496=)
16g.3736716T>CCA202087CREBBPc.4494A>G (p.Arg1498=)
c.4380A>G (p.Arg1460=)
c.3129A>G (p.Arg1043=)
n.284A>G
n.315A>G
n.3317A>G
c.4449A>G (p.Arg1483=)
c.4077A>G (p.Arg1359=)
c.4233A>G (p.Arg1411=)
c.4440A>G (p.Arg1480=)
c.3741A>G (p.Arg1247=)
c.4488A>G (p.Arg1496=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3736716T>GCA493279316CREBBPc.4494A>C (p.Arg1498=)
c.4380A>C (p.Arg1460=)
c.3129A>C (p.Arg1043=)
n.284A>C
n.315A>C
n.3317A>C
c.4449A>C (p.Arg1483=)
c.4077A>C (p.Arg1359=)
c.4233A>C (p.Arg1411=)
c.4440A>C (p.Arg1480=)
c.3741A>C (p.Arg1247=)
c.4488A>C (p.Arg1496=)
16g.3736716T=CA2202936620CREBBPc.4494A= (p.Arg1498=)
c.4380A= (p.Arg1460=)
c.3129A= (p.Arg1043=)
n.284A=
n.315A=
n.3317A=
c.4449A= (p.Arg1483=)
c.4077A= (p.Arg1359=)
c.4233A= (p.Arg1411=)
c.4440A= (p.Arg1480=)
c.3741A= (p.Arg1247=)
c.4488A= (p.Arg1496=)
16g.3736717C>ACA394563634CREBBPc.4493G>T (p.Arg1498Leu)
c.4379G>T (p.Arg1460Leu)
c.3128G>T (p.Arg1043Leu)
n.283G>T
n.314G>T
n.3316G>T
c.4448G>T (p.Arg1483Leu)
c.4076G>T (p.Arg1359Leu)
c.4232G>T (p.Arg1411Leu)
c.4439G>T (p.Arg1480Leu)
c.3740G>T (p.Arg1247Leu)
c.4487G>T (p.Arg1496Leu)
dbSNP gnomAD v4
16g.3736717C=CA2202936625CREBBPc.4493G= (p.Arg1498=)
c.4379G= (p.Arg1460=)
c.3128G= (p.Arg1043=)
n.283G=
n.314G=
n.3316G=
c.4448G= (p.Arg1483=)
c.4076G= (p.Arg1359=)
c.4232G= (p.Arg1411=)
c.4439G= (p.Arg1480=)
c.3740G= (p.Arg1247=)
c.4487G= (p.Arg1496=)
16g.3736717C>GCA394563637CREBBPc.4493G>C (p.Arg1498Pro)
c.4379G>C (p.Arg1460Pro)
c.3128G>C (p.Arg1043Pro)
n.283G>C
n.314G>C
n.3316G>C
c.4448G>C (p.Arg1483Pro)
c.4076G>C (p.Arg1359Pro)
c.4232G>C (p.Arg1411Pro)
c.4439G>C (p.Arg1480Pro)
c.3740G>C (p.Arg1247Pro)
c.4487G>C (p.Arg1496Pro)
dbSNP
16g.3736717C>TCA394563635CREBBPc.4493G>A (p.Arg1498Gln)
c.4379G>A (p.Arg1460Gln)
c.3128G>A (p.Arg1043Gln)
n.283G>A
n.314G>A
n.3316G>A
c.4448G>A (p.Arg1483Gln)
c.4076G>A (p.Arg1359Gln)
c.4232G>A (p.Arg1411Gln)
c.4439G>A (p.Arg1480Gln)
c.3740G>A (p.Arg1247Gln)
c.4487G>A (p.Arg1496Gln)
ClinVar dbSNP gnomAD v4
16g.3736718G>ACA394563638CREBBPc.4492C>T (p.Arg1498Ter)
c.4378C>T (p.Arg1460Ter)
c.3127C>T (p.Arg1043Ter)
n.282C>T
n.313C>T
n.3315C>T
c.4447C>T (p.Arg1483Ter)
c.4075C>T (p.Arg1359Ter)
c.4231C>T (p.Arg1411Ter)
c.4438C>T (p.Arg1480Ter)
c.3739C>T (p.Arg1247Ter)
c.4486C>T (p.Arg1496Ter)
ClinVar dbSNP COSMIC
16g.3736718G>CCA394563641CREBBPc.4492C>G (p.Arg1498Gly)
c.4378C>G (p.Arg1460Gly)
c.3127C>G (p.Arg1043Gly)
n.282C>G
n.313C>G
n.3315C>G
c.4447C>G (p.Arg1483Gly)
c.4075C>G (p.Arg1359Gly)
c.4231C>G (p.Arg1411Gly)
c.4438C>G (p.Arg1480Gly)
c.3739C>G (p.Arg1247Gly)
c.4486C>G (p.Arg1496Gly)
16g.3736718G=CA2202936630CREBBPc.4492C= (p.Arg1498=)
c.4378C= (p.Arg1460=)
c.3127C= (p.Arg1043=)
n.282C=
n.313C=
n.3315C=
c.4447C= (p.Arg1483=)
c.4075C= (p.Arg1359=)
c.4231C= (p.Arg1411=)
c.4438C= (p.Arg1480=)
c.3739C= (p.Arg1247=)
c.4486C= (p.Arg1496=)
16g.3736718G>TCA493279326CREBBPc.4492C>A (p.Arg1498=)
c.4378C>A (p.Arg1460=)
c.3127C>A (p.Arg1043=)
n.282C>A
n.313C>A
n.3315C>A
c.4447C>A (p.Arg1483=)
c.4075C>A (p.Arg1359=)
c.4231C>A (p.Arg1411=)
c.4438C>A (p.Arg1480=)
c.3739C>A (p.Arg1247=)
c.4486C>A (p.Arg1496=)
16g.3736719T>ACA394563643CREBBPc.4491A>T (p.Lys1497Asn)
c.4377A>T (p.Lys1459Asn)
c.3126A>T (p.Lys1042Asn)
n.281A>T
n.312A>T
n.3314A>T
c.4446A>T (p.Lys1482Asn)
c.4074A>T (p.Lys1358Asn)
c.4230A>T (p.Lys1410Asn)
c.4437A>T (p.Lys1479Asn)
c.3738A>T (p.Lys1246Asn)
c.4485A>T (p.Lys1495Asn)
dbSNP
16g.3736719T>CCA493279329CREBBPc.4491A>G (p.Lys1497=)
c.4377A>G (p.Lys1459=)
c.3126A>G (p.Lys1042=)
n.281A>G
n.312A>G
n.3314A>G
c.4446A>G (p.Lys1482=)
c.4074A>G (p.Lys1358=)
c.4230A>G (p.Lys1410=)
c.4437A>G (p.Lys1479=)
c.3738A>G (p.Lys1246=)
c.4485A>G (p.Lys1495=)
16g.3736719T>GCA394563646CREBBPc.4491A>C (p.Lys1497Asn)
c.4377A>C (p.Lys1459Asn)
c.3126A>C (p.Lys1042Asn)
n.281A>C
n.312A>C
n.3314A>C
c.4446A>C (p.Lys1482Asn)
c.4074A>C (p.Lys1358Asn)
c.4230A>C (p.Lys1410Asn)
c.4437A>C (p.Lys1479Asn)
c.3738A>C (p.Lys1246Asn)
c.4485A>C (p.Lys1495Asn)
dbSNP
16g.3736719_3736720insGCA2631401613CREBBPc.4490_4491insC (p.Lys1497AsnfsTer22)
c.4376_4377insC (p.Lys1459AsnfsTer22)
c.3125_3126insC (p.Lys1042AsnfsTer22)
n.280_281insC
n.311_312insC
n.3313_3314insC
c.4445_4446insC (p.Lys1482AsnfsTer22)
c.4073_4074insC (p.Lys1358AsnfsTer22)
c.4229_4230insC (p.Lys1410AsnfsTer22)
c.4436_4437insC (p.Lys1479AsnfsTer22)
c.3737_3738insC (p.Lys1246AsnfsTer22)
c.4484_4485insC (p.Lys1495AsnfsTer22)
gnomAD v4
16g.3736720T>ACA394563650CREBBPc.4490A>T (p.Lys1497Ile)
c.4376A>T (p.Lys1459Ile)
c.3125A>T (p.Lys1042Ile)
n.280A>T
n.311A>T
n.3313A>T
c.4445A>T (p.Lys1482Ile)
c.4073A>T (p.Lys1358Ile)
c.4229A>T (p.Lys1410Ile)
c.4436A>T (p.Lys1479Ile)
c.3737A>T (p.Lys1246Ile)
c.4484A>T (p.Lys1495Ile)
dbSNP
16g.3736720T>CCA394563654CREBBPc.4490A>G (p.Lys1497Arg)
c.4376A>G (p.Lys1459Arg)
c.3125A>G (p.Lys1042Arg)
n.280A>G
n.311A>G
n.3313A>G
c.4445A>G (p.Lys1482Arg)
c.4073A>G (p.Lys1358Arg)
c.4229A>G (p.Lys1410Arg)
c.4436A>G (p.Lys1479Arg)
c.3737A>G (p.Lys1246Arg)
c.4484A>G (p.Lys1495Arg)
dbSNP
16g.3736720T>GCA394563651CREBBPc.4490A>C (p.Lys1497Thr)
c.4376A>C (p.Lys1459Thr)
c.3125A>C (p.Lys1042Thr)
n.280A>C
n.311A>C
n.3313A>C
c.4445A>C (p.Lys1482Thr)
c.4073A>C (p.Lys1358Thr)
c.4229A>C (p.Lys1410Thr)
c.4436A>C (p.Lys1479Thr)
c.3737A>C (p.Lys1246Thr)
c.4484A>C (p.Lys1495Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3736720T=CA2202936635CREBBPc.4490A= (p.Lys1497=)
c.4376A= (p.Lys1459=)
c.3125A= (p.Lys1042=)
n.280A=
n.311A=
n.3313A=
c.4445A= (p.Lys1482=)
c.4073A= (p.Lys1358=)
c.4229A= (p.Lys1410=)
c.4436A= (p.Lys1479=)
c.3737A= (p.Lys1246=)
c.4484A= (p.Lys1495=)
16g.3736721T>ACA394563657CREBBPc.4489A>T (p.Lys1497Ter)
c.4375A>T (p.Lys1459Ter)
c.3124A>T (p.Lys1042Ter)
n.279A>T
n.310A>T
n.3312A>T
c.4444A>T (p.Lys1482Ter)
c.4072A>T (p.Lys1358Ter)
c.4228A>T (p.Lys1410Ter)
c.4435A>T (p.Lys1479Ter)
c.3736A>T (p.Lys1246Ter)
c.4483A>T (p.Lys1495Ter)
dbSNP
16g.3736721T>CCA394563658CREBBPc.4489A>G (p.Lys1497Glu)
c.4375A>G (p.Lys1459Glu)
c.3124A>G (p.Lys1042Glu)
n.279A>G
n.310A>G
n.3312A>G
c.4444A>G (p.Lys1482Glu)
c.4072A>G (p.Lys1358Glu)
c.4228A>G (p.Lys1410Glu)
c.4435A>G (p.Lys1479Glu)
c.3736A>G (p.Lys1246Glu)
c.4483A>G (p.Lys1495Glu)
dbSNP
16g.3736721T>GCA394563660CREBBPc.4489A>C (p.Lys1497Gln)
c.4375A>C (p.Lys1459Gln)
c.3124A>C (p.Lys1042Gln)
n.279A>C
n.310A>C
n.3312A>C
c.4444A>C (p.Lys1482Gln)
c.4072A>C (p.Lys1358Gln)
c.4228A>C (p.Lys1410Gln)
c.4435A>C (p.Lys1479Gln)
c.3736A>C (p.Lys1246Gln)
c.4483A>C (p.Lys1495Gln)
16g.3736722T>ACA493279335CREBBPc.4488A>T (p.Pro1496=)
c.4374A>T (p.Pro1458=)
c.3123A>T (p.Pro1041=)
n.278A>T
n.309A>T
n.3311A>T
c.4443A>T (p.Pro1481=)
c.4071A>T (p.Pro1357=)
c.4227A>T (p.Pro1409=)
c.4434A>T (p.Pro1478=)
c.3735A>T (p.Pro1245=)
c.4482A>T (p.Pro1494=)
dbSNP
16g.3736722T>CCA493279337CREBBPc.4488A>G (p.Pro1496=)
c.4374A>G (p.Pro1458=)
c.3123A>G (p.Pro1041=)
n.278A>G
n.309A>G
n.3311A>G
c.4443A>G (p.Pro1481=)
c.4071A>G (p.Pro1357=)
c.4227A>G (p.Pro1409=)
c.4434A>G (p.Pro1478=)
c.3735A>G (p.Pro1245=)
c.4482A>G (p.Pro1494=)
ClinVar dbSNP gnomAD v4
16g.3736722T>GCA493279339CREBBPc.4488A>C (p.Pro1496=)
c.4374A>C (p.Pro1458=)
c.3123A>C (p.Pro1041=)
n.278A>C
n.309A>C
n.3311A>C
c.4443A>C (p.Pro1481=)
c.4071A>C (p.Pro1357=)
c.4227A>C (p.Pro1409=)
c.4434A>C (p.Pro1478=)
c.3735A>C (p.Pro1245=)
c.4482A>C (p.Pro1494=)
gnomAD v4
16g.3736722T=CA2202936639CREBBPc.4488A= (p.Pro1496=)
c.4374A= (p.Pro1458=)
c.3123A= (p.Pro1041=)
n.278A=
n.309A=
n.3311A=
c.4443A= (p.Pro1481=)
c.4071A= (p.Pro1357=)
c.4227A= (p.Pro1409=)
c.4434A= (p.Pro1478=)
c.3735A= (p.Pro1245=)
c.4482A= (p.Pro1494=)
16g.3736723G>ACA394563662CREBBPc.4487C>T (p.Pro1496Leu)
c.4373C>T (p.Pro1458Leu)
c.3122C>T (p.Pro1041Leu)
n.277C>T
n.308C>T
n.3310C>T
c.4442C>T (p.Pro1481Leu)
c.4070C>T (p.Pro1357Leu)
c.4226C>T (p.Pro1409Leu)
c.4433C>T (p.Pro1478Leu)
c.3734C>T (p.Pro1245Leu)
c.4481C>T (p.Pro1494Leu)
dbSNP
16g.3736723G>CCA394563664CREBBPc.4487C>G (p.Pro1496Arg)
c.4373C>G (p.Pro1458Arg)
c.3122C>G (p.Pro1041Arg)
n.277C>G
n.308C>G
n.3310C>G
c.4442C>G (p.Pro1481Arg)
c.4070C>G (p.Pro1357Arg)
c.4226C>G (p.Pro1409Arg)
c.4433C>G (p.Pro1478Arg)
c.3734C>G (p.Pro1245Arg)
c.4481C>G (p.Pro1494Arg)
dbSNP
16g.3736723G>TCA394563665CREBBPc.4487C>A (p.Pro1496Gln)
c.4373C>A (p.Pro1458Gln)
c.3122C>A (p.Pro1041Gln)
n.277C>A
n.308C>A
n.3310C>A
c.4442C>A (p.Pro1481Gln)
c.4070C>A (p.Pro1357Gln)
c.4226C>A (p.Pro1409Gln)
c.4433C>A (p.Pro1478Gln)
c.3734C>A (p.Pro1245Gln)
c.4481C>A (p.Pro1494Gln)
dbSNP gnomAD v4
16g.3736724G>ACA394563666CREBBPc.4486C>T (p.Pro1496Ser)
c.4372C>T (p.Pro1458Ser)
c.3121C>T (p.Pro1041Ser)
n.276C>T
n.307C>T
n.3309C>T
c.4441C>T (p.Pro1481Ser)
c.4069C>T (p.Pro1357Ser)
c.4225C>T (p.Pro1409Ser)
c.4432C>T (p.Pro1478Ser)
c.3733C>T (p.Pro1245Ser)
c.4480C>T (p.Pro1494Ser)
dbSNP
16g.3736724G>CCA394563668CREBBPc.4486C>G (p.Pro1496Ala)
c.4372C>G (p.Pro1458Ala)
c.3121C>G (p.Pro1041Ala)
n.276C>G
n.307C>G
n.3309C>G
c.4441C>G (p.Pro1481Ala)
c.4069C>G (p.Pro1357Ala)
c.4225C>G (p.Pro1409Ala)
c.4432C>G (p.Pro1478Ala)
c.3733C>G (p.Pro1245Ala)
c.4480C>G (p.Pro1494Ala)
dbSNP
16g.3736724G>TCA394563671CREBBPc.4486C>A (p.Pro1496Thr)
c.4372C>A (p.Pro1458Thr)
c.3121C>A (p.Pro1041Thr)
n.276C>A
n.307C>A
n.3309C>A
c.4441C>A (p.Pro1481Thr)
c.4069C>A (p.Pro1357Thr)
c.4225C>A (p.Pro1409Thr)
c.4432C>A (p.Pro1478Thr)
c.3733C>A (p.Pro1245Thr)
c.4480C>A (p.Pro1494Thr)
dbSNP
16g.3736725delCA2631401615CREBBPc.4485del (p.Lys1495AsnfsTer?)
c.4371del (p.Lys1457AsnfsTer?)
c.3120del (p.Lys1040AsnfsTer?)
n.275del
n.306del
n.3308del
c.4440del (p.Lys1480AsnfsTer?)
c.4068del (p.Lys1356AsnfsTer?)
c.4224del (p.Lys1408AsnfsTer?)
c.4431del (p.Lys1477AsnfsTer?)
c.3732del (p.Lys1244AsnfsTer?)
c.4479del (p.Lys1493AsnfsTer?)
gnomAD v4
16g.3736725C>ACA394563672CREBBPc.4485G>T (p.Lys1495Asn)
c.4371G>T (p.Lys1457Asn)
c.3120G>T (p.Lys1040Asn)
n.275G>T
n.306G>T
n.3308G>T
c.4440G>T (p.Lys1480Asn)
c.4068G>T (p.Lys1356Asn)
c.4224G>T (p.Lys1408Asn)
c.4431G>T (p.Lys1477Asn)
c.3732G>T (p.Lys1244Asn)
c.4479G>T (p.Lys1493Asn)
dbSNP
16g.3736725C>GCA394563675CREBBPc.4485G>C (p.Lys1495Asn)
c.4371G>C (p.Lys1457Asn)
c.3120G>C (p.Lys1040Asn)
n.275G>C
n.306G>C
n.3308G>C
c.4440G>C (p.Lys1480Asn)
c.4068G>C (p.Lys1356Asn)
c.4224G>C (p.Lys1408Asn)
c.4431G>C (p.Lys1477Asn)
c.3732G>C (p.Lys1244Asn)
c.4479G>C (p.Lys1493Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3736725C>TCA493279352CREBBPc.4485G>A (p.Lys1495=)
c.4371G>A (p.Lys1457=)
c.3120G>A (p.Lys1040=)
n.275G>A
n.306G>A
n.3308G>A
c.4440G>A (p.Lys1480=)
c.4068G>A (p.Lys1356=)
c.4224G>A (p.Lys1408=)
c.4431G>A (p.Lys1477=)
c.3732G>A (p.Lys1244=)
c.4479G>A (p.Lys1493=)
dbSNP

Number of alleles fetched