| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855649G>C | CA402918122 | ELANE | c.452G>C (p.Cys151Ser) | ClinVar dbSNP |
| 19 | g.855649G>T | CA10583962 | ELANE | c.452G>T (p.Cys151Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.855649G>A | CA303944794 | ELANE | c.452G>A (p.Cys151Tyr) | ClinVar dbSNP gnomAD v2 |
| 19 | g.855649G= | CA2317361392 | ELANE | c.452G= (p.Cys151=) | dbSNP |