| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.135920591G>C | CA56842322 | DARS1 | c.821C>G (p.Ala274Gly) c.521C>G (p.Ala174Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.135920591G>A | CA143917 | DARS1 | c.821C>T (p.Ala274Val) c.521C>T (p.Ala174Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.135920591G= | CA1290880548 | DARS1 | c.821C= (p.Ala274=) c.521C= (p.Ala174=) | dbSNP |