| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019478C>G | CA114151 | VWF | c.3940G>C (p.Val1314Leu) n.421-25544G>C | ClinVar dbSNP |
| 12 | g.6019478C>A | CA228498 | VWF | c.3940G>T (p.Val1314Phe) n.421-25544G>T | ClinVar dbSNP |
| 12 | g.6019478C= | CA2013873003 | VWF | c.3940G= (p.Val1314=) n.421-25544G= | dbSNP |
| 12 | g.6019478C>T | CA383506114 | VWF | c.3940G>A (p.Val1314Ile) n.421-25544G>A | dbSNP gnomAD v4 |