| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94383217C>T | CA16041710 | SERPINA1 | c.21G>A (p.Trp7Ter) c.-23-215G>A (n.-23-215G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383217C>A | CA7327569 | SERPINA1 | c.21G>T (p.Trp7Cys) c.-23-215G>T (n.-23-215G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383217C= | CA2155955005 | SERPINA1 | c.21G= (p.Trp7=) c.-23-215G= (n.-23-215G=) | dbSNP |