| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6046725C>A | CA383523252 | VWF | c.2279G>T (p.Arg760Leu) n.421-52791G>T | dbSNP gnomAD v4 |
| 12 | g.6046725C>T | CA228316 | VWF | c.2279G>A (p.Arg760His) n.421-52791G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6046725C= | CA2013885659 | VWF | c.2279G= (p.Arg760=) n.421-52791G= | dbSNP |