| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240783777G>C | CA351303126 | KIF1A | c.760C>G (p.Arg254Gly) n.918C>G n.911C>G n.916C>G c.182C>G | ClinVar dbSNP |
| 2 | g.240783777G>A | CA10584198 | KIF1A | c.760C>T (p.Arg254Trp) n.918C>T n.911C>T n.916C>T c.182C>T | ClinVar dbSNP gnomAD v4 |