| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855574C>A | CA303944686 | ELANE | c.377C>A (p.Ser126Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.855574C>T | CA281055 | ELANE | c.377C>T (p.Ser126Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.855574C>G | CA402917752 | ELANE | c.377C>G (p.Ser126Trp) | ClinVar dbSNP |
| 19 | g.855574C= | CA2317361346 | ELANE | c.377C= (p.Ser126=) | dbSNP |