| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6063036T>C | CA6403395 | VWF | c.1451A>G (p.His484Arg) n.420+47479A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6063036T>G | CA383500851 | VWF | c.1451A>C (p.His484Pro) n.420+47479A>C | dbSNP |
| 12 | g.6063036T>A | CA6403396 | VWF | c.1451A>T (p.His484Leu) n.420+47479A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |