| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378554dup | CA274031 | SERPINA1 | c.1158dup (p.Glu387ArgfsTer14) c.*457dup (n.*457dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.94378554del | CA7327257 | SERPINA1 | c.1158del (p.Glu387ArgfsTer11) c.*457del (n.*457del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |