| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35848788G>A | CA405406588 | NPHS1 | c.1019C>T (p.Pro340Leu) n.26C>T | dbSNP |
| 19 | g.35848788G>T | CA250079 | NPHS1 | c.1019C>A (p.Pro340His) n.26C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35848788G= | CA2333850568 | NPHS1 | c.1019C= (p.Pro340=) n.26C= | dbSNP |