| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57569263A>G | CA118522 | KIF5A | c.827A>G (p.Tyr276Cys) c.722A>G (p.Tyr241Cys) c.560A>G (p.Tyr187Cys) n.1060A>G | ClinVar dbSNP |
| 12 | g.57569263A= | CA2038925696 | KIF5A | c.827A= (p.Tyr276=) c.722A= (p.Tyr241=) c.560A= (p.Tyr187=) n.1060A= | dbSNP |