| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179564648A>C | CA10581520 | NPHS2 | c.378+42T>G (n.378+42T>G) c.275-4887T>G (n.275-4887T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564648A= | CA1210322067 | NPHS2 | c.378+42T= (n.378+42T=) c.275-4887T= (n.275-4887T=) | dbSNP |