| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378547C>T | CA127650 | SERPINA1 | c.1159G>A (p.Glu387Lys) c.*458G>A (n.*458G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378547C>A | CA390847611 | SERPINA1 | c.1159G>T (p.Glu387Ter) c.*458G>T (n.*458G>T) | dbSNP |
| 14 | g.94378547C= | CA2155953411 | SERPINA1 | c.1159G= (p.Glu387=) c.*458G= (n.*458G=) | dbSNP |
| 14 | g.94378547C>G | CA390847612 | SERPINA1 | c.1159G>C (p.Glu387Gln) c.*458G>C (n.*458G>C) | dbSNP gnomAD v4 |