| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35842421C>T | CA250042 | NPHS1 | c.2464G>A (p.Val822Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35842421C>G | CA405392851 | NPHS1 | c.2464G>C (p.Val822Leu) | dbSNP gnomAD v4 |
| 19 | g.35842421C= | CA2333847511 | NPHS1 | c.2464G= (p.Val822=) | dbSNP |
| 19 | g.35842421C>A | CA405392843 | NPHS1 | c.2464G>T (p.Val822Leu) | dbSNP gnomAD v4 |