Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5981988C>A | CA114172 | VWF | c.7085G>T (p.Cys2362Phe) | ClinVar dbSNP gnomAD v4 |
12 | g.5981988C>G | CA383491382 | VWF | c.7085G>C (p.Cys2362Ser) | dbSNP |
12 | g.5981988C= | CA2013855922 | VWF | c.7085G= (p.Cys2362=) | dbSNP |