Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94379979G>T | CA710094929 | SERPINA1 | c.918-368C>A (n.918-368C>A) c.*217-368C>A (n.*217-368C>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94379979G>A | CA13947657 | SERPINA1 | c.918-368C>T (n.918-368C>T) c.*217-368C>T (n.*217-368C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |