| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6044349T>G | CA383522081 | VWF | c.2384A>C (p.Tyr795Ser) n.421-50415A>C | dbSNP |
| 12 | g.6044349T>C | CA114166 | VWF | c.2384A>G (p.Tyr795Cys) n.421-50415A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.6044349T= | CA2013884558 | VWF | c.2384A= (p.Tyr795=) n.421-50415A= | dbSNP |