| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.88067946C>T | CA3004244 | PKD2 | c.2407C>T (p.Arg803Ter) c.661C>T (p.Arg221Ter) n.659C>T n.885C>T c.2182C>T (p.Arg728Ter) c.1687C>T (p.Arg563Ter) c.1567C>T (p.Arg523Ter) n.2373C>T n.2385C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.88067946C>G | CA3004243 | PKD2 | c.2407C>G (p.Arg803Gly) c.661C>G (p.Arg221Gly) n.659C>G n.885C>G c.2182C>G (p.Arg728Gly) c.1687C>G (p.Arg563Gly) c.1567C>G (p.Arg523Gly) n.2373C>G n.2385C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |