| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93898462G>A | CA123035 | PROS1 | c.835C>T (p.Gln279Ter) c.790C>T (p.Gln264Ter) n.1003C>T c.793C>T (p.Gln265Ter) c.934C>T (n.934C>T) c.931C>T (p.Gln311Ter) c.442C>T (p.Gln148Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.93898462G= | CA1385039107 | PROS1 | c.835C= (p.Gln279=) c.790C= (p.Gln264=) n.1003C= c.793C= (p.Gln265=) c.934C= (n.934C=) c.931C= (p.Gln311=) c.442C= (p.Gln148=) | dbSNP |