| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173833388C>G | CA343759615 | DARS2 | c.*195C>G (n.*195C>G) c.505C>G (p.Leu169Val) n.888C>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173833388C>T | CA16617024 | DARS2 | c.*195C>T (n.*195C>T) c.505C>T (p.Leu169Phe) n.888C>T | ClinVar dbSNP gnomAD v4 |