Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3810669delCA222707CREBBPc.910del (p.Val304SerfsTer?)
c.856del (p.Val286SerfsTer?)
c.157del (p.Val53SerfsTer?)
 ClinVar dbSNP
16g.3810669C>ACA394565972CREBBPc.909G>T (p.Met303Ile)
c.855G>T (p.Met285Ile)
c.156G>T (p.Met52Ile)
16g.3810669C>GCA394565973CREBBPc.909G>C (p.Met303Ile)
c.855G>C (p.Met285Ile)
c.156G>C (p.Met52Ile)
16g.3810669C>TCA394565974CREBBPc.909G>A (p.Met303Ile)
c.855G>A (p.Met285Ile)
c.156G>A (p.Met52Ile)
16g.3810670A>CCA394565975CREBBPc.908T>G (p.Met303Arg)
c.854T>G (p.Met285Arg)
c.155T>G (p.Met52Arg)
16g.3810670A>GCA394565976CREBBPc.908T>C (p.Met303Thr)
c.854T>C (p.Met285Thr)
c.155T>C (p.Met52Thr)
16g.3810670A>TCA394565977CREBBPc.908T>A (p.Met303Lys)
c.854T>A (p.Met285Lys)
c.155T>A (p.Met52Lys)
16g.3810671T>ACA394565978CREBBPc.907A>T (p.Met303Leu)
c.853A>T (p.Met285Leu)
c.154A>T (p.Met52Leu)
16g.3810671T>CCA394565979CREBBPc.907A>G (p.Met303Val)
c.853A>G (p.Met285Val)
c.154A>G (p.Met52Val)
 ClinVar dbSNP gnomAD v4
16g.3810671T>GCA394565980CREBBPc.907A>C (p.Met303Leu)
c.853A>C (p.Met285Leu)
c.154A>C (p.Met52Leu)
16g.3810671T=CA2202971842CREBBPc.907A= (p.Met303=)
c.853A= (p.Met285=)
c.154A= (p.Met52=)
16g.3810672G>ACA493277618CREBBPc.906C>T (p.Ser302=)
c.852C>T (p.Ser284=)
c.153C>T (p.Ser51=)
 dbSNP gnomAD v4
16g.3810672G>CCA394565981CREBBPc.906C>G (p.Ser302Arg)
c.852C>G (p.Ser284Arg)
c.153C>G (p.Ser51Arg)
16g.3810672G=CA2202971843CREBBPc.906C= (p.Ser302=)
c.852C= (p.Ser284=)
c.153C= (p.Ser51=)
16g.3810672G>TCA394565982CREBBPc.906C>A (p.Ser302Arg)
c.852C>A (p.Ser284Arg)
c.153C>A (p.Ser51Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.3810673C>ACA394565983CREBBPc.905G>T (p.Ser302Ile)
c.851G>T (p.Ser284Ile)
c.152G>T (p.Ser51Ile)
16g.3810673C=CA2202971844CREBBPc.905G= (p.Ser302=)
c.851G= (p.Ser284=)
c.152G= (p.Ser51=)
16g.3810673C>GCA394565984CREBBPc.905G>C (p.Ser302Thr)
c.851G>C (p.Ser284Thr)
c.152G>C (p.Ser51Thr)
16g.3810673C>TCA7870566CREBBPc.905G>A (p.Ser302Asn)
c.851G>A (p.Ser284Asn)
c.152G>A (p.Ser51Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810675_3810676delCA2695222699CREBBPc.904_905del (p.Ser302HisfsTer?)
c.850_851del (p.Ser284HisfsTer?)
c.151_152del (p.Ser51HisfsTer?)
16g.3810674T>ACA394565985CREBBPc.904A>T (p.Ser302Cys)
c.850A>T (p.Ser284Cys)
c.151A>T (p.Ser51Cys)
16g.3810674T>CCA394565986CREBBPc.904A>G (p.Ser302Gly)
c.850A>G (p.Ser284Gly)
c.151A>G (p.Ser51Gly)
16g.3810674T>GCA394565987CREBBPc.904A>C (p.Ser302Arg)
c.850A>C (p.Ser284Arg)
c.151A>C (p.Ser51Arg)
 gnomAD v4
16g.3810675C>ACA394565988CREBBPc.903G>T (p.Gln301His)
c.849G>T (p.Gln283His)
c.150G>T (p.Gln50His)
 COSMIC
16g.3810675C>GCA394565989CREBBPc.903G>C (p.Gln301His)
c.849G>C (p.Gln283His)
c.150G>C (p.Gln50His)
 dbSNP
16g.3810675C>TCA493277619CREBBPc.903G>A (p.Gln301=)
c.849G>A (p.Gln283=)
c.150G>A (p.Gln50=)
16g.3810676T>ACA394565992CREBBPc.902A>T (p.Gln301Leu)
c.848A>T (p.Gln283Leu)
c.149A>T (p.Gln50Leu)
16g.3810676T>CCA394565990CREBBPc.902A>G (p.Gln301Arg)
c.848A>G (p.Gln283Arg)
c.149A>G (p.Gln50Arg)
16g.3810676T>GCA394565991CREBBPc.902A>C (p.Gln301Pro)
c.848A>C (p.Gln283Pro)
c.149A>C (p.Gln50Pro)
16g.3810677G>ACA394565993CREBBPc.901C>T (p.Gln301Ter)
c.847C>T (p.Gln283Ter)
c.148C>T (p.Gln50Ter)
16g.3810677G>CCA394565994CREBBPc.901C>G (p.Gln301Glu)
c.847C>G (p.Gln283Glu)
c.148C>G (p.Gln50Glu)
16g.3810677G>TCA394565995CREBBPc.901C>A (p.Gln301Lys)
c.847C>A (p.Gln283Lys)
c.148C>A (p.Gln50Lys)
16g.3810678T>ACA394565996CREBBPc.900A>T (p.Lys300Asn)
c.846A>T (p.Lys282Asn)
c.147A>T (p.Lys49Asn)
16g.3810678T>CCA493277620CREBBPc.900A>G (p.Lys300=)
c.846A>G (p.Lys282=)
c.147A>G (p.Lys49=)
 gnomAD v4
16g.3810678T>GCA394565997CREBBPc.900A>C (p.Lys300Asn)
c.846A>C (p.Lys282Asn)
c.147A>C (p.Lys49Asn)
16g.3810679T>ACA394566000CREBBPc.899A>T (p.Lys300Ile)
c.845A>T (p.Lys282Ile)
c.146A>T (p.Lys49Ile)
16g.3810679T>CCA394565999CREBBPc.899A>G (p.Lys300Arg)
c.845A>G (p.Lys282Arg)
c.146A>G (p.Lys49Arg)
16g.3810679T>GCA394565998CREBBPc.899A>C (p.Lys300Thr)
c.845A>C (p.Lys282Thr)
c.146A>C (p.Lys49Thr)
16g.3810680T>ACA394566001CREBBPc.898A>T (p.Lys300Ter)
c.844A>T (p.Lys282Ter)
c.145A>T (p.Lys49Ter)
16g.3810680T>CCA394566002CREBBPc.898A>G (p.Lys300Glu)
c.844A>G (p.Lys282Glu)
c.145A>G (p.Lys49Glu)
16g.3810680T>GCA394566003CREBBPc.898A>C (p.Lys300Gln)
c.844A>C (p.Lys282Gln)
c.145A>C (p.Lys49Gln)
16g.3810681G>ACA493277621CREBBPc.897C>T (p.Ser299=)
c.843C>T (p.Ser281=)
c.144C>T (p.Ser48=)
 dbSNP
16g.3810681G>CCA394566004CREBBPc.897C>G (p.Ser299Arg)
c.843C>G (p.Ser281Arg)
c.144C>G (p.Ser48Arg)
 gnomAD v4
16g.3810681G>TCA394566005CREBBPc.897C>A (p.Ser299Arg)
c.843C>A (p.Ser281Arg)
c.144C>A (p.Ser48Arg)
16g.3810682C>ACA394566008CREBBPc.896G>T (p.Ser299Ile)
c.842G>T (p.Ser281Ile)
c.143G>T (p.Ser48Ile)
16g.3810682C>GCA394566007CREBBPc.896G>C (p.Ser299Thr)
c.842G>C (p.Ser281Thr)
c.143G>C (p.Ser48Thr)
16g.3810682C>TCA394566006CREBBPc.896G>A (p.Ser299Asn)
c.842G>A (p.Ser281Asn)
c.143G>A (p.Ser48Asn)
 dbSNP
16g.3810683T>ACA394566009CREBBPc.895A>T (p.Ser299Cys)
c.841A>T (p.Ser281Cys)
c.142A>T (p.Ser48Cys)
16g.3810683T>CCA158188CREBBPc.895A>G (p.Ser299Gly)
c.841A>G (p.Ser281Gly)
c.142A>G (p.Ser48Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810683T>GCA394566010CREBBPc.895A>C (p.Ser299Arg)
c.841A>C (p.Ser281Arg)
c.142A>C (p.Ser48Arg)

Number of alleles fetched