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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.83322396A>T
CA1472744088
HPSE
c.228-32T>A (n.228-32T>A)
n.247-32T>A
dbSNP
4
g.83322396A>G
CA2989204
HPSE
c.228-32T>C (n.228-32T>C)
n.247-32T>C
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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