| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378529G>A | CA7327256 | SERPINA1 | c.1177C>T (p.Pro393Ser) c.*476C>T (n.*476C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378529G>T | CA350451 | SERPINA1 | c.1177C>A (p.Pro393Thr) c.*476C>A (n.*476C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378529G= | CA2155953404 | SERPINA1 | c.1177C= (p.Pro393=) c.*476C= (n.*476C=) | dbSNP |
| 14 | g.94378529G>C | CA390847567 | SERPINA1 | c.1177C>G (p.Pro393Ala) c.*476C>G (n.*476C>G) | dbSNP gnomAD v4 |