| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240788110C>T | CA16617512 | KIF1A | c.304G>A (p.Gly102Ser) n.462G>A n.455G>A n.460G>A c.327G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.240788110C= | CA1339291443 | KIF1A | c.304G= (p.Gly102=) n.462G= n.455G= n.460G= c.327G= | dbSNP |