Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35848102C>GCA405404044NPHS1c.1379G>C (p.Arg460Pro)
n.386G>C
dbSNP gnomAD v2 gnomAD v4
19g.35848102C>TCA250119NPHS1c.1379G>A (p.Arg460Gln)
n.386G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched