| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240783776C>T | CA10602852 | KIF1A | c.761G>A (p.Arg254Gln) n.919G>A n.912G>A n.917G>A c.183G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.240783776C>G | CA16604439 | KIF1A | c.761G>C (p.Arg254Pro) n.919G>C n.912G>C n.917G>C c.183G>C | ClinVar dbSNP |
| 2 | g.240783776C= | CA1339288903 | KIF1A | c.761G= (p.Arg254=) n.919G= n.912G= n.917G= c.183G= | dbSNP |