| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019277T>A | CA383504420 | VWF | c.4141A>T (p.Thr1381Ser) n.421-25343A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019277T>C | CA6402593 | VWF | c.4141A>G (p.Thr1381Ala) n.421-25343A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019277T= | CA1630855462 | VWF | c.4141A= (p.Thr1381=) n.421-25343A= | dbSNP |