| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.13011692G>A | CA117232 | ELAC2 | c.650C>T (p.Ser217Leu) c.593C>T (p.Ser198Leu) c.560-1021C>T (n.560-1021C>T) n.912C>T c.278-1021C>T (n.278-1021C>T) c.368C>T (p.Ser123Leu) c.124C>T n.447C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.13011692G>C | CA398217421 | ELAC2 | c.650C>G (p.Ser217Trp) c.593C>G (p.Ser198Trp) c.560-1021C>G (n.560-1021C>G) n.912C>G c.278-1021C>G (n.278-1021C>G) c.368C>G (p.Ser123Trp) c.124C>G n.447C>G | dbSNP gnomAD v3 gnomAD v4 |