Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018535A>G | CA114115 | VWF | c.4883T>C (p.Ile1628Thr) n.421-24601T>C | ClinVar dbSNP gnomAD v4 |
12 | g.6018535A>T | CA383498769 | VWF | c.4883T>A (p.Ile1628Asn) n.421-24601T>A | ClinVar dbSNP |
12 | g.6018535A= | CA2013872560 | VWF | c.4883T= (p.Ile1628=) n.421-24601T= | dbSNP |