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 |