| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93874245T>A | CA123033 | PROS1 | c.2031A>T (p.Ter677Tyr) c.1986A>T (p.Ter662Tyr) c.*134A>T (n.*134A>T) n.2199A>T c.1989A>T (p.Ter663Tyr) c.2127A>T (p.Ter709Tyr) c.1638A>T (p.Ter546Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.93874245T>C | CA2503051 | PROS1 | c.2031A>G (p.Ter677=) c.1986A>G (p.Ter662=) c.*134A>G (n.*134A>G) n.2199A>G c.1989A>G (p.Ter663=) c.2127A>G (p.Ter709=) c.1638A>G (p.Ter546=) | dbSNP ExAC gnomAD v2 gnomAD v4 |