| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904028G>A | CA210789 | SERPINC1 | c.1256C>T (p.Ala419Val) c.641C>T (p.Ala214Val) c.1112C>T (p.Ala371Val) c.1379C>T (p.Ala460Val) c.1337C>T (p.Ala446Val) c.1235C>T (p.Ala412Val) c.1199C>T (p.Ala400Val) c.1040C>T (p.Ala347Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904028G= | CA1141581240 | SERPINC1 | c.1256C= (p.Ala419=) c.641C= (p.Ala214=) c.1112C= (p.Ala371=) c.1379C= (p.Ala460=) c.1337C= (p.Ala446=) c.1235C= (p.Ala412=) c.1199C= (p.Ala400=) c.1040C= (p.Ala347=) | dbSNP |
| 1 | g.173904028G>C | CA343772623 | SERPINC1 | c.1256C>G (p.Ala419Gly) c.641C>G (p.Ala214Gly) c.1112C>G (p.Ala371Gly) c.1379C>G (p.Ala460Gly) c.1337C>G (p.Ala446Gly) c.1235C>G (p.Ala412Gly) c.1199C>G (p.Ala400Gly) c.1040C>G (p.Ala347Gly) | dbSNP |