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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.215007788T>C
CA2091944
ABCA12
c.2531A>G (p.Asp844Gly)
c.1577A>G (p.Asp526Gly)
n.2775A>G
n.2973A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
2
g.215007788T=
CA1327172344
ABCA12
c.2531A= (p.Asp844=)
c.1577A= (p.Asp526=)
n.2775A=
n.2973A=
dbSNP
Number of alleles fetched
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