| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240785066T>G | CA212627 | KIF1A | c.643A>C (p.Ser215Arg) n.801A>C n.794A>C n.799A>C c.65A>C | ClinVar dbSNP |
| 2 | g.240785066T= | CA1339289547 | KIF1A | c.643A= (p.Ser215=) n.801A= n.794A= n.799A= c.65A= | dbSNP |
| 2 | g.240785066T>A | CA351304809 | KIF1A | c.643A>T (p.Ser215Cys) n.801A>T n.794A>T n.799A>T c.65A>T | dbSNP |