| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904010C>T | CA210766 | SERPINC1 | c.1274G>A (p.Arg425His) c.659G>A (p.Arg220His) c.1130G>A (p.Arg377His) c.1397G>A (p.Arg466His) c.1355G>A (p.Arg452His) c.1253G>A (p.Arg418His) c.1217G>A (p.Arg406His) c.1058G>A (p.Arg353His) | ClinVar dbSNP gnomAD v2 |
| 1 | g.173904010C>G | CA210752 | SERPINC1 | c.1274G>C (p.Arg425Pro) c.659G>C (p.Arg220Pro) c.1130G>C (p.Arg377Pro) c.1397G>C (p.Arg466Pro) c.1355G>C (p.Arg452Pro) c.1253G>C (p.Arg418Pro) c.1217G>C (p.Arg406Pro) c.1058G>C (p.Arg353Pro) | ClinVar dbSNP |
| 1 | g.173904010C= | CA1141581233 | SERPINC1 | c.1274G= (p.Arg425=) c.659G= (p.Arg220=) c.1130G= (p.Arg377=) c.1397G= (p.Arg466=) c.1355G= (p.Arg452=) c.1253G= (p.Arg418=) c.1217G= (p.Arg406=) c.1058G= (p.Arg353=) | dbSNP |