| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173914570G>A | CA210787 | SERPINC1 | c.391C>T (p.Leu131Phe) n.96C>T n.617C>T c.247C>T (p.Leu83Phe) c.472C>T (p.Leu158Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173914570G>C | CA343777244 | SERPINC1 | c.391C>G (p.Leu131Val) n.96C>G n.617C>G c.247C>G (p.Leu83Val) c.472C>G (p.Leu158Val) | ClinVar dbSNP |
| 1 | g.173914570G= | CA1141581227 | SERPINC1 | c.391C= (p.Leu131=) n.96C= n.617C= c.247C= (p.Leu83=) c.472C= (p.Leu158=) | dbSNP |