| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93877155G>A | CA350250 | PROS1 | c.1681C>T (p.Arg561Trp) c.1636C>T (p.Arg546Trp) c.1644+2008C>T (n.1644+2008C>T) n.1849C>T c.1639C>T (p.Arg547Trp) c.1780C>T (n.1780C>T) c.624C>T (n.624C>T) c.1777C>T (p.Arg593Trp) c.1288C>T (p.Arg430Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93877155G>C | CA123037 | PROS1 | c.1681C>G (p.Arg561Gly) c.1636C>G (p.Arg546Gly) c.1644+2008C>G (n.1644+2008C>G) n.1849C>G c.1639C>G (p.Arg547Gly) c.1780C>G (n.1780C>G) c.624C>G (n.624C>G) c.1777C>G (p.Arg593Gly) c.1288C>G (p.Arg430Gly) | ClinVar dbSNP |