| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94383237T>C | CA16041711 | SERPINA1 | c.1A>G (p.Met1Val) c.-23-235A>G (n.-23-235A>G) | ClinVar dbSNP |
| 14 | g.94383237T= | CA2155955018 | SERPINA1 | c.1A= (p.Met1=) c.-23-235A= (n.-23-235A=) | dbSNP |
| 14 | g.94383237T>A | CA390850977 | SERPINA1 | c.1A>T (p.Met1Leu) c.-23-235A>T (n.-23-235A>T) | dbSNP gnomAD v4 |