| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.16877053T>G | CA376131778 | CUBN | c.8950A>C (p.Ile2984Leu) c.4936A>C (p.Ile1646Leu) c.4912A>C (p.Ile1638Leu) c.4792A>C (p.Ile1598Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.16877053T>C | CA5422849 | CUBN | c.8950A>G (p.Ile2984Val) c.4936A>G (p.Ile1646Val) c.4912A>G (p.Ile1638Val) c.4792A>G (p.Ile1598Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.16877053T>A | CA376131779 | CUBN | c.8950A>T (p.Ile2984Phe) c.4936A>T (p.Ile1646Phe) c.4912A>T (p.Ile1638Phe) c.4792A>T (p.Ile1598Phe) | dbSNP |