| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378610C>G | CA390847805 | SERPINA1 | c.1096G>C (p.Glu366Gln) c.*395G>C (n.*395G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378610C>T | CA127676 | SERPINA1 | c.1096G>A (p.Glu366Lys) c.*395G>A (n.*395G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378610C>A | CA390847804 | SERPINA1 | c.1096G>T (p.Glu366Ter) c.*395G>T (n.*395G>T) | dbSNP gnomAD v4 |
| 14 | g.94378610C= | CA2155953456 | SERPINA1 | c.1096G= (p.Glu366=) c.*395G= (n.*395G=) | dbSNP |