| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94383051G>C | CA390850601 | SERPINA1 | c.187C>G (p.Arg63Gly) c.-23-49C>G (n.-23-49C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383051G>A | CA325650 | SERPINA1 | c.187C>T (p.Arg63Cys) c.-23-49C>T (n.-23-49C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94383051G= | CA2155954911 | SERPINA1 | c.187C= (p.Arg63=) c.-23-49C= (n.-23-49C=) | dbSNP |