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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50627329C>T
CA115958
ARSA
c.302G>A (p.Gly101Asp)
c.44G>A (p.Gly15Asp)
n.693G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
22
g.50627329C>A
CA219014
ARSA
c.302G>T (p.Gly101Val)
c.44G>T (p.Gly15Val)
n.693G>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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