| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179557179G>A | CA199089 | NPHS2 | c.586C>T (p.Arg196Ter) c.534+2500C>T (n.534+2500C>T) c.409C>T (p.Arg137Ter) c.461+2500C>T (n.461+2500C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179557179G>C | CA1267178 | NPHS2 | c.586C>G (p.Arg196Gly) c.534+2500C>G (n.534+2500C>G) c.409C>G (p.Arg137Gly) c.461+2500C>G (n.461+2500C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179557179G>T | CA422025801 | NPHS2 | c.586C>A (p.Arg196=) c.534+2500C>A (n.534+2500C>A) c.409C>A (p.Arg137=) c.461+2500C>A (n.461+2500C>A) | dbSNP gnomAD v2 |