| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378506T>C | CA487621111 | SERPINA1 | c.1200A>G (p.Glu400=) c.*499A>G (n.*499A>G) | dbSNP |
| 14 | g.94378506T>G | CA127624 | SERPINA1 | c.1200A>C (p.Glu400Asp) c.*499A>C (n.*499A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378506T>A | CA390847475 | SERPINA1 | c.1200A>T (p.Glu400Asp) c.*499A>T (n.*499A>T) | dbSNP |
| 14 | g.94378506T= | CA2155953392 | SERPINA1 | c.1200A= (p.Glu400=) c.*499A= (n.*499A=) | dbSNP |