Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6019472C>A | CA383506089 | VWF | c.3946G>T (p.Val1316Leu) n.421-25538G>T | ClinVar dbSNP |
12 | g.6019472C>G | CA6402646 | VWF | c.3946G>C (p.Val1316Leu) n.421-25538G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6019472C>T | CA114127 | VWF | c.3946G>A (p.Val1316Met) n.421-25538G>A | ClinVar dbSNP |