| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904044C>T | CA210768 | SERPINC1 | c.1240G>A (p.Ala414Thr) c.625G>A (p.Ala209Thr) c.1096G>A (p.Ala366Thr) c.1363G>A (p.Ala455Thr) c.1321G>A (p.Ala441Thr) c.1219G>A (p.Ala407Thr) c.1183G>A (p.Ala395Thr) c.1024G>A (p.Ala342Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173904044C= | CA1141581243 | SERPINC1 | c.1240G= (p.Ala414=) c.625G= (p.Ala209=) c.1096G= (p.Ala366=) c.1363G= (p.Ala455=) c.1321G= (p.Ala441=) c.1219G= (p.Ala407=) c.1183G= (p.Ala395=) c.1024G= (p.Ala342=) | dbSNP |