| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94614674T>A | CA265879819 | SERPINA3 | c.233T>A (p.Leu78Gln) c.1196T>A n.57+2227T>A | dbSNP |
| 14 | g.94614674T>C | CA127755 | SERPINA3 | c.233T>C (p.Leu78Pro) c.1196T>C n.57+2227T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.94614674T= | CA2156072179 | SERPINA3 | c.233T= (p.Leu78=) c.1196T= n.57+2227T= | dbSNP |