| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6018443G>T | CA478493990 | VWF | c.4975C>A (p.Arg1659=) n.421-24509C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018443G>A | CA114141 | VWF | c.4975C>T (p.Arg1659Ter) n.421-24509C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.6018443G= | CA2013872513 | VWF | c.4975C= (p.Arg1659=) n.421-24509C= | dbSNP |