| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019472C>A | CA383506089 | VWF | c.3946G>T (p.Val1316Leu) n.421-25538G>T | ClinVar dbSNP |
| 12 | g.6019472C>G | CA6402646 | VWF | c.3946G>C (p.Val1316Leu) n.421-25538G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6019472C>T | CA114127 | VWF | c.3946G>A (p.Val1316Met) n.421-25538G>A | ClinVar dbSNP |
| 12 | g.6019472C= | CA2013872998 | VWF | c.3946G= (p.Val1316=) n.421-25538G= | dbSNP |