| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.856000G>T | CA402918996 | ELANE | c.640G>T (p.Gly214Ter) | dbSNP |
| 19 | g.856000G>A | CA281059 | ELANE | c.640G>A (p.Gly214Arg) | ClinVar dbSNP COSMIC |
| 19 | g.856000G= | CA2317361621 | ELANE | c.640G= (p.Gly214=) | dbSNP |
| 19 | g.856000G>C | CA402918995 | ELANE | c.640G>C (p.Gly214Arg) | ClinVar dbSNP |