| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140696110A>G | CA128342035 | HARS2 | c.641A>G (p.Asp214Gly) c.411+265A>G (n.411+265A>G) c.431A>G (p.Asp144Gly) c.*219A>G (n.*219A>G) c.681A>G c.633+265A>G (n.633+265A>G) c.659A>G (p.Asp220Gly) c.*22A>G (n.*22A>G) c.216+265A>G (n.216+265A>G) c.566A>G (p.Asp189Gly) c.*698A>G (n.*698A>G) n.648A>G c.209A>G (p.Asp70Gly) c.651+265A>G (n.651+265A>G) c.-20A>G (n.-20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140696110A= | CA1586867417 | HARS2 | c.641A= (p.Asp214=) c.411+265A= (n.411+265A=) c.431A= (p.Asp144=) c.*219A= (n.*219A=) c.681A= c.633+265A= (n.633+265A=) c.659A= (p.Asp220=) c.*22A= (n.*22A=) c.216+265A= (n.216+265A=) c.566A= (p.Asp189=) c.*698A= (n.*698A=) n.648A= c.209A= (p.Asp70=) c.651+265A= (n.651+265A=) c.-20A= (n.-20A=) | dbSNP |