| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240785059G>C | CA10577243 | KIF1A | c.650C>G (p.Ser217Cys) n.808C>G n.801C>G n.806C>G c.72C>G | ClinVar dbSNP |
| 2 | g.240785059G>A | CA351304762 | KIF1A | c.650C>T (p.Ser217Phe) n.808C>T n.801C>T n.806C>T c.72C>T | ClinVar dbSNP |