| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179557122G>C | CA1267162 | NPHS2 | c.643C>G (p.Gln215Glu) c.534+2557C>G (n.534+2557C>G) c.466C>G (p.Gln156Glu) c.461+2557C>G (n.461+2557C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179557122G>A | CA16040669 | NPHS2 | c.643C>T (p.Gln215Ter) c.534+2557C>T (n.534+2557C>T) c.466C>T (p.Gln156Ter) c.461+2557C>T (n.461+2557C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179557122G= | CA1210319254 | NPHS2 | c.643C= (p.Gln215=) c.534+2557C= (n.534+2557C=) c.466C= (p.Gln156=) c.461+2557C= (n.461+2557C=) | dbSNP |