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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5234132G>A
CA5839947
HBD
c.174C>T (p.Asn58=)
c.92+210C>T (n.92+210C>T)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.5234132G>T
CA124701
HBD
c.174C>A (p.Asn58Lys)
c.92+210C>A (n.92+210C>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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