| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6044368T>G | CA228336 | VWF | c.2365A>C (p.Thr789Pro) n.421-50434A>C | ClinVar dbSNP |
| 12 | g.6044368T>C | CA6403090 | VWF | c.2365A>G (p.Thr789Ala) n.421-50434A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6044368T= | CA1630855467 | VWF | c.2365A= (p.Thr789=) n.421-50434A= | dbSNP |