| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6018629G>C | CA228653 | VWF | c.4789C>G (p.Arg1597Gly) n.421-24695C>G | ClinVar dbSNP |
| 12 | g.6018629G>T | CA478502045 | VWF | c.4789C>A (p.Arg1597=) n.421-24695C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018629G>A | CA114117 | VWF | c.4789C>T (p.Arg1597Trp) n.421-24695C>T | ClinVar dbSNP gnomAD v4 COSMIC |