| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6018667T>C | CA114162 | VWF | c.4751A>G (p.Tyr1584Cys) n.421-24733A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018667T>A | CA383499630 | VWF | c.4751A>T (p.Tyr1584Phe) n.421-24733A>T | dbSNP gnomAD v4 |
| 12 | g.6018667T= | CA2013872618 | VWF | c.4751A= (p.Tyr1584=) n.421-24733A= | dbSNP |