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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50627585del
CA278422
ARSA
c.195del (p.Tyr65Ter)
c.-34-179del (n.-34-179del)
n.586del
ClinVar
dbSNP
gnomAD v2
gnomAD v4
22
g.50627585G=
CA2410959724
ARSA
c.195C= (p.Tyr65=)
c.-34-179C= (n.-34-179C=)
n.586C=
dbSNP
dbSNP
Number of alleles fetched
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