| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35848144A>G | CA405404427 | NPHS1 | c.1337T>C (p.Ile446Thr) n.344T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35848144A>T | CA250116 | NPHS1 | c.1337T>A (p.Ile446Asn) n.344T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848144A= | CA2333849920 | NPHS1 | c.1337T= (p.Ile446=) n.344T= | dbSNP |