| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382700G>C | CA390849523 | SERPINA1 | c.538C>G (p.Gln180Glu) c.280C>G (p.Gln94Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382700G>A | CA348651 | SERPINA1 | c.538C>T (p.Gln180Ter) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382700G= | CA2155954739 | SERPINA1 | c.538C= (p.Gln180=) c.280C= (p.Gln94=) | dbSNP |
| 14 | g.94382700G>T | CA390849524 | SERPINA1 | c.538C>A (p.Gln180Lys) c.280C>A (p.Gln94Lys) | dbSNP gnomAD v4 |