| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32755259dup | CA645294068 | YARS2 | c.616dup (p.Leu206ProfsTer23) c.538dup (p.Leu180ProfsTer23) n.703dup n.1200dup | ClinVar dbSNP gnomAD v4 |
| 12 | g.32755259G= | CA3192155848 | YARS2 | c.616C= (p.Leu206=) c.538C= (p.Leu180=) n.703C= n.1200C= | dbSNP |