| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019564G>A | CA114164 | VWF | c.3854C>T (p.Ser1285Phe) n.421-25630C>T n.652C>T | ClinVar dbSNP |
| 12 | g.6019564G>C | CA383506757 | VWF | c.3854C>G (p.Ser1285Cys) n.421-25630C>G n.652C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019564G= | CA2013873043 | VWF | c.3854C= (p.Ser1285=) n.421-25630C= n.652C= | dbSNP |