| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.853345G>C | CA402916128 | ELANE | c.308G>C (p.Arg103Pro) | ClinVar dbSNP |
| 19 | g.853345G>A | CA9025998 | ELANE | c.308G>A (p.Arg103His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.853345G>T | CA16620913 | ELANE | c.308G>T (p.Arg103Leu) | ClinVar dbSNP |
| 19 | g.853345G= | CA2317360169 | ELANE | c.308G= (p.Arg103=) | dbSNP |