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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.3850689G>C
CA276987267
CREBBP
c.406C>G (p.Gln136Glu)
c.352C>G (p.Gln118Glu)
dbSNP
gnomAD v3
gnomAD v4
16
g.3850689G>A
CA254809
CREBBP
c.406C>T (p.Gln136Ter)
c.352C>T (p.Gln118Ter)
ClinVar
dbSNP
Number of alleles fetched
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