| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94623782A>G | CA127753 | SERPINA3 | c.1240A>G (p.Met414Val) c.586A>G (p.Met196Val) c.2203A>G c.*315A>G (n.*315A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94623782A= | CA2156076321 | SERPINA3 | c.1240A= (p.Met414=) c.586A= (p.Met196=) c.2203A= c.*315A= (n.*315A=) | dbSNP |