| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6013544G>A | CA114143 | VWF | c.5557C>T (p.Arg1853Ter) n.421-19610C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6013544G>T | CA478100493 | VWF | c.5557C>A (p.Arg1853=) n.421-19610C>A | dbSNP gnomAD v2 |
| 12 | g.6013544G= | CA2013870356 | VWF | c.5557C= (p.Arg1853=) n.421-19610C= | dbSNP |