| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6044348A>G | CA6403087 | VWF | c.2385T>C (p.Tyr795=) n.421-50414T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6044348A>C | CA383522074 | VWF | c.2385T>G (p.Tyr795Ter) n.421-50414T>G | dbSNP |
| 12 | g.6044348A= | CA1630855466 | VWF | c.2385T= (p.Tyr795=) n.421-50414T= | dbSNP |
| 12 | g.6044348A>T | CA383522077 | VWF | c.2385T>A (p.Tyr795Ter) n.421-50414T>A | dbSNP |