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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35848318C>A
CA250111
NPHS1
c.1250G>T (p.Cys417Phe)
n.257G>T
ClinVar
dbSNP
19
g.35848318C>T
CA405405349
NPHS1
c.1250G>A (p.Cys417Tyr)
n.257G>A
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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