| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6057930C>T | CA114156 | VWF | c.1648G>A (p.Gly550Arg) n.420+52585G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.6057930C>G | CA383498180 | VWF | c.1648G>C (p.Gly550Arg) n.420+52585G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6057930C>A | CA383498179 | VWF | c.1648G>T (p.Gly550Trp) n.420+52585G>T | dbSNP gnomAD v4 |
| 12 | g.6057930C= | CA2013892007 | VWF | c.1648G= (p.Gly550=) n.420+52585G= | dbSNP |