| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.852990C>G | CA9025947 | ELANE | c.182C>G (p.Ala61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.852990C>T | CA281048 | ELANE | c.182C>T (p.Ala61Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.852990C>A | CA9025948 | ELANE | c.182C>A (p.Ala61Glu) | ClinVar dbSNP ExAC gnomAD v4 |
| 19 | g.852990C= | CA2317360143 | ELANE | c.182C= (p.Ala61=) | dbSNP |