Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179559710C>TCA199046NPHS2c.503G>A (p.Arg168His)
c.326G>A (p.Arg109His)
c.430G>A (p.Val144Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.179559710C=CA1144468076NPHS2c.503G= (p.Arg168=)
c.326G= (p.Arg109=)
c.430G= (p.Val144=)
dbSNP

Number of alleles fetched