| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855799G>T | CA2499225649 | ELANE | c.597+5G>T (n.597+5G>T) | ClinVar dbSNP |
| 19 | g.855799G>A | CA10584621 | ELANE | c.597+5G>A (n.597+5G>A) | ClinVar dbSNP gnomAD v4 |
| 19 | g.855799G= | CA2317361486 | ELANE | c.597+5G= (n.597+5G=) | dbSNP |
| 19 | g.855799G>C | CA2740091834 | ELANE | c.597+5G>C (n.597+5G>C) | ClinVar dbSNP |