| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378528G>T | CA7327255 | SERPINA1 | c.1178C>A (p.Pro393His) c.*477C>A (n.*477C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378528G>A | CA127662 | SERPINA1 | c.1178C>T (p.Pro393Leu) c.*477C>T (n.*477C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378528G>C | CA265860619 | SERPINA1 | c.1178C>G (p.Pro393Arg) c.*477C>G (n.*477C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |