| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1776708T>C | CA8274896 | SERPINF1 | c.963T>C (p.Tyr321=) n.259T>C c.357T>C (p.Tyr119=) c.402T>C (p.Tyr134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1776708T>G | CA286851479 | SERPINF1 | c.963T>G (p.Tyr321Ter) n.259T>G c.357T>G (p.Tyr119Ter) c.402T>G (p.Tyr134Ter) | dbSNP |
| 17 | g.1776708T>A | CA397589918 | SERPINF1 | c.963T>A (p.Tyr321Ter) n.259T>A c.357T>A (p.Tyr119Ter) c.402T>A (p.Tyr134Ter) | dbSNP |