| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32755694G>C | CA6508221 | YARS2 | c.181C>G (p.Leu61Val) c.103C>G (p.Leu35Val) n.268C>G n.765C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.32755694G>A | CA235221501 | YARS2 | c.181C>T (p.Leu61Phe) c.103C>T (p.Leu35Phe) n.268C>T n.765C>T | dbSNP |
| 12 | g.32755694G= | CA2026286683 | YARS2 | c.181C= (p.Leu61=) c.103C= (p.Leu35=) n.268C= n.765C= | dbSNP |