| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93893025G>A | CA128688 | PROS1 | c.1063C>T (p.Arg355Cys) c.1018C>T (p.Arg340Cys) n.1231C>T c.1021C>T (p.Arg341Cys) c.1162C>T (n.1162C>T) c.1159C>T (p.Arg387Cys) c.670C>T (p.Arg224Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.93893025G= | CA1385036830 | PROS1 | c.1063C= (p.Arg355=) c.1018C= (p.Arg340=) n.1231C= c.1021C= (p.Arg341=) c.1162C= (n.1162C=) c.1159C= (p.Arg387=) c.670C= (p.Arg224=) | dbSNP |