| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6016197A>C | CA228715 | VWF | c.5347T>G (p.Ser1783Ala) n.421-22263T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6016197A= | CA2013871502 | VWF | c.5347T= (p.Ser1783=) n.421-22263T= | dbSNP |
| 12 | g.6016197A>T | CA383495595 | VWF | c.5347T>A (p.Ser1783Thr) n.421-22263T>A | dbSNP |