| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93905799T>C | CA123032 | PROS1 | c.586A>G (p.Lys196Glu) c.556+30A>G (n.556+30A>G) n.754A>G c.544A>G (p.Lys182Glu) c.685A>G (n.685A>G) c.682A>G (p.Lys228Glu) c.193A>G (p.Lys65Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93905799T= | CA1385042581 | PROS1 | c.586A= (p.Lys196=) c.556+30A= (n.556+30A=) n.754A= c.544A= (p.Lys182=) c.685A= (n.685A=) c.682A= (p.Lys228=) c.193A= (p.Lys65=) | dbSNP |
| 3 | g.93905799T>A | CA353673398 | PROS1 | c.586A>T (p.Lys196Ter) c.556+30A>T (n.556+30A>T) n.754A>T c.544A>T (p.Lys182Ter) c.685A>T (n.685A>T) c.682A>T (p.Lys228Ter) c.193A>T (p.Lys65Ter) | dbSNP |