| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019396C>G | CA228516 | VWF | c.4022G>C (p.Arg1341Pro) n.421-25462G>C | ClinVar dbSNP |
| 12 | g.6019396C>A | CA228518 | VWF | c.4022G>T (p.Arg1341Leu) n.421-25462G>T | ClinVar dbSNP |
| 12 | g.6019396C>T | CA114129 | VWF | c.4022G>A (p.Arg1341Gln) n.421-25462G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |