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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35848759A>G
CA250083
NPHS1
c.1048T>C (p.Ser350Pro)
n.55T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
19
g.35848759A>C
CA405406529
NPHS1
c.1048T>G (p.Ser350Ala)
n.55T>G
dbSNP
Number of alleles fetched
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