| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382823C>T | CA127734 | SERPINA1 | c.415G>A (p.Gly139Ser) c.157G>A (p.Gly53Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382823C>A | CA390849993 | SERPINA1 | c.415G>T (p.Gly139Cys) c.157G>T (p.Gly53Cys) | ClinVar dbSNP |
| 14 | g.94382823C= | CA2155954793 | SERPINA1 | c.415G= (p.Gly139=) c.157G= (p.Gly53=) | dbSNP |