| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378575T>A | CA127705 | SERPINA1 | c.1131A>T (p.Leu377Phe) c.*430A>T (n.*430A>T) | ClinVar dbSNP |
| 14 | g.94378575T>G | CA390847732 | SERPINA1 | c.1131A>C (p.Leu377Phe) c.*430A>C (n.*430A>C) | dbSNP gnomAD v4 |
| 14 | g.94378575T= | CA2155953433 | SERPINA1 | c.1131A= (p.Leu377=) c.*430A= (n.*430A=) | dbSNP |