| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94383008G>A | CA127738 | SERPINA1 | c.230C>T (p.Ser77Phe) c.-23-6C>T (n.-23-6C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383008G= | CA2155954887 | SERPINA1 | c.230C= (p.Ser77=) c.-23-6C= (n.-23-6C=) | dbSNP |
| 14 | g.94383008G>C | CA390850509 | SERPINA1 | c.230C>G (p.Ser77Cys) c.-23-6C>G (n.-23-6C>G) | dbSNP |