| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32755639C>A | CA324467 | YARS2 | c.236G>T (p.Gly79Val) c.158G>T (p.Gly53Val) n.323G>T n.820G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.32755639C>T | CA384374306 | YARS2 | c.236G>A (p.Gly79Asp) c.158G>A (p.Gly53Asp) n.323G>A n.820G>A | dbSNP |
| 12 | g.32755639C= | CA2026286558 | YARS2 | c.236G= (p.Gly79=) c.158G= (p.Gly53=) n.323G= n.820G= | dbSNP |