| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32755719G>A | CA6508227 | YARS2 | c.156C>T (p.Phe52=) c.78C>T (p.Phe26=) n.243C>T n.740C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.32755719G>C | CA114728 | YARS2 | c.156C>G (p.Phe52Leu) c.78C>G (p.Phe26Leu) n.243C>G n.740C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.32755719G= | CA2026286726 | YARS2 | c.156C= (p.Phe52=) c.78C= (p.Phe26=) n.243C= n.740C= | dbSNP |