| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32755501C>G | CA321124 | YARS2 | c.374G>C (p.Arg125Pro) c.296G>C (p.Arg99Pro) n.461G>C n.958G>C | ClinVar dbSNP |
| 12 | g.32755501C>T | CA384374028 | YARS2 | c.374G>A (p.Arg125His) c.296G>A (p.Arg99His) n.461G>A n.958G>A | dbSNP gnomAD v4 |
| 12 | g.32755501C= | CA2026286173 | YARS2 | c.374G= (p.Arg125=) c.296G= (p.Arg99=) n.461G= n.958G= | dbSNP |