| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378561A>C | CA127707 | SERPINA1 | c.1145T>G (p.Met382Arg) c.*444T>G (n.*444T>G) | ClinVar dbSNP |
| 14 | g.94378561A>G | CA390847680 | SERPINA1 | c.1145T>C (p.Met382Thr) c.*444T>C (n.*444T>C) | dbSNP |
| 14 | g.94378561A= | CA2155953422 | SERPINA1 | c.1145T= (p.Met382=) c.*444T= (n.*444T=) | dbSNP |