| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019222C>A | CA383504076 | VWF | c.4196G>T (p.Arg1399Leu) n.421-25288G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019222C>T | CA114133 | VWF | c.4196G>A (p.Arg1399His) n.421-25288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019222C= | CA2013872863 | VWF | c.4196G= (p.Arg1399=) n.421-25288G= | dbSNP |