| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149894C>A | CA351756418 | VHL | c.*248C>A (n.*248C>A) c.707C>A (n.707C>A) c.682C>A (p.His228Asn) c.571C>A (p.His191Asn) c.448C>A (p.His150Asn) n.707C>A c.*125C>A (n.*125C>A) | dbSNP |
| 3 | g.10149894C>G | CA020495 | VHL | c.*248C>G (n.*248C>G) c.707C>G (n.707C>G) c.682C>G (p.His228Asp) c.571C>G (p.His191Asp) c.448C>G (p.His150Asp) n.707C>G c.*125C>G (n.*125C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149894C>T | CA351756416 | VHL | c.*248C>T (n.*248C>T) c.707C>T (n.707C>T) c.682C>T (p.His228Tyr) c.571C>T (p.His191Tyr) c.448C>T (p.His150Tyr) n.707C>T c.*125C>T (n.*125C>T) | ClinVar dbSNP gnomAD v4 |