| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32755738C>T | CA150747 | YARS2 | c.137G>A (p.Gly46Asp) c.59G>A (p.Gly20Asp) n.224G>A n.721G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.32755738C>A | CA384374517 | YARS2 | c.137G>T (p.Gly46Val) c.59G>T (p.Gly20Val) n.224G>T n.721G>T | dbSNP gnomAD v4 |
| 12 | g.32755738C= | CA2026286772 | YARS2 | c.137G= (p.Gly46=) c.59G= (p.Gly20=) n.224G= n.721G= | dbSNP |