| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35848318C>A | CA250111 | NPHS1 | c.1250G>T (p.Cys417Phe) n.257G>T | ClinVar dbSNP |
| 19 | g.35848318C>T | CA405405349 | NPHS1 | c.1250G>A (p.Cys417Tyr) n.257G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35848318C= | CA2333850093 | NPHS1 | c.1250G= (p.Cys417=) n.257G= | dbSNP |