| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240788182C>G | CA351310814 | KIF1A | c.232G>C (p.Gly78Arg) n.390G>C n.383G>C n.388G>C c.255G>C | ClinVar dbSNP |
| 2 | g.240788182C>T | CA16043389 | KIF1A | c.232G>A (p.Gly78Ser) n.390G>A n.383G>A n.388G>A c.255G>A | ClinVar dbSNP gnomAD v4 |