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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626618G>T
CA412175847
ARSA
c.827C>A (p.Thr276Lys)
c.569C>A (p.Thr190Lys)
n.1404C>A
ClinVar
dbSNP
22
g.50626618G>A
CA115985
ARSA
c.827C>T (p.Thr276Met)
c.569C>T (p.Thr190Met)
n.1404C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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