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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.22163524C>A
CA177956
SFTPC
c.413C>A (p.Thr138Asn)
c.254C>A (p.Thr85Asn)
n.212C>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
8
g.22163524C>T
CA370537893
SFTPC
c.413C>T (p.Thr138Ile)
c.254C>T (p.Thr85Ile)
n.212C>T
dbSNP
gnomAD v4
Number of alleles fetched
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