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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35848788G>A
CA405406588
NPHS1
c.1019C>T (p.Pro340Leu)
n.26C>T
dbSNP
19
g.35848788G>T
CA250079
NPHS1
c.1019C>A (p.Pro340His)
n.26C>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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