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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50627165C>T
CA215122
ARSA
c.465+1G>A (n.465+1G>A)
c.207+1G>A (n.207+1G>A)
n.857G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50627165C=
CA2410959463
ARSA
c.465+1G= (n.465+1G=)
c.207+1G= (n.207+1G=)
n.857G=
dbSNP
Number of alleles fetched
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