| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378628C>G | CA7327289 | SERPINA1 | c.1078G>C (p.Ala360Pro) c.*377G>C (n.*377G>C) | dbSNP ExAC gnomAD v4 |
| 14 | g.94378628C>A | CA390847830 | SERPINA1 | c.1078G>T (p.Ala360Ser) c.*377G>T (n.*377G>T) | dbSNP |
| 14 | g.94378628C>T | CA127731 | SERPINA1 | c.1078G>A (p.Ala360Thr) c.*377G>A (n.*377G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |