| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35844249G>T | CA9390241 | NPHS1 | c.2072-6C>A (n.2072-6C>A) n.254-6C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35844249G>C | CA250166 | NPHS1 | c.2072-6C>G (n.2072-6C>G) n.254-6C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35844249G>A | CA9390240 | NPHS1 | c.2072-6C>T (n.2072-6C>T) n.254-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |