| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179557079C>T | CA117462 | NPHS2 | c.686G>A (p.Arg229Gln) c.535-2548G>A (n.535-2548G>A) c.509G>A (p.Arg170Gln) c.461+2600G>A (n.461+2600G>A) c.534+2600G>A (n.534+2600G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179557079C>G | CA343567609 | NPHS2 | c.686G>C (p.Arg229Pro) c.535-2548G>C (n.535-2548G>C) c.509G>C (p.Arg170Pro) c.461+2600G>C (n.461+2600G>C) c.534+2600G>C (n.534+2600G>C) | dbSNP |