| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.852978C>T | CA16603237 | ELANE | c.170C>T (p.Ala57Val) | ClinVar dbSNP |
| 19 | g.852978C= | CA2317360136 | ELANE | c.170C= (p.Ala57=) | dbSNP |
| 19 | g.852978C>A | CA402914711 | ELANE | c.170C>A (p.Ala57Asp) | ClinVar dbSNP gnomAD v4 |