| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1771040C>G | CA397584442 | SERPINF1 | c.295C>G (p.Arg99Gly) n.515C>G c.256C>G (p.Arg86Gly) n.536C>G c.*145C>G (n.*145C>G) c.-267C>G (n.-267C>G) | dbSNP |
| 17 | g.1771040C>T | CA397584444 | SERPINF1 | c.295C>T (p.Arg99Ter) n.515C>T c.256C>T (p.Arg86Ter) n.536C>T c.*145C>T (n.*145C>T) c.-267C>T (n.-267C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |