Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3773912G>CCA394553116CREBBPc.2302C>G (p.Arg768Gly)
c.2188C>G (p.Arg730Gly)
c.907C>G (p.Arg303Gly)
c.351C>G
c.570C>G
n.197C>G
c.2257C>G (p.Arg753Gly)
c.2248C>G (p.Arg750Gly)
c.1549C>G (p.Arg517Gly)
dbSNP
16g.3773912G>ACA16608189CREBBPc.2302C>T (p.Arg768Ter)
c.2188C>T (p.Arg730Ter)
c.907C>T (p.Arg303Ter)
c.351C>T
c.570C>T
n.197C>T
c.2257C>T (p.Arg753Ter)
c.2248C>T (p.Arg750Ter)
c.1549C>T (p.Arg517Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3773912G>TCA493274521CREBBPc.2302C>A (p.Arg768=)
c.2188C>A (p.Arg730=)
c.907C>A (p.Arg303=)
c.351C>A
c.570C>A
n.197C>A
c.2257C>A (p.Arg753=)
c.2248C>A (p.Arg750=)
c.1549C>A (p.Arg517=)
dbSNP

Number of alleles fetched