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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.65641466C>G
CA381352665
SIPA1
c.545C>G (p.Ser182Cys)
n.654C>G
dbSNP
gnomAD v3
gnomAD v4
11
g.65641466C>T
CA6105895
SIPA1
c.545C>T (p.Ser182Phe)
n.654C>T
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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