| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240786407T>C | CA10584199 | KIF1A | c.536A>G (p.Glu179Gly) n.694A>G n.687A>G n.692A>G | ClinVar dbSNP |
| 2 | g.240786407T>G | CA351306098 | KIF1A | c.536A>C (p.Glu179Ala) n.694A>C n.687A>C n.692A>C | dbSNP gnomAD v3 gnomAD v4 |