| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179557227C>T | CA117458 | NPHS2 | c.538G>A (p.Val180Met) c.534+2452G>A (n.534+2452G>A) c.361G>A (p.Val121Met) c.461+2452G>A (n.461+2452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179557227C= | CA1140886938 | NPHS2 | c.538G= (p.Val180=) c.534+2452G= (n.534+2452G=) c.361G= (p.Val121=) c.461+2452G= (n.461+2452G=) | dbSNP |
| 1 | g.179557227C>G | CA343568396 | NPHS2 | c.538G>C (p.Val180Leu) c.534+2452G>C (n.534+2452G>C) c.361G>C (p.Val121Leu) c.461+2452G>C (n.461+2452G>C) | dbSNP gnomAD v4 |