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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35831092G>A
CA250315
NPHS1
c.3442C>T (p.Gln1148Ter)
c.3322C>T (p.Gln1108Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
19
g.35831092G=
CA2333841999
NPHS1
c.3442C= (p.Gln1148=)
c.3322C= (p.Gln1108=)
dbSNP
Number of alleles fetched
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