| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240783791A>T | CA212639 | KIF1A | c.746T>A (p.Leu249Gln) n.904T>A n.897T>A n.902T>A c.168T>A | ClinVar dbSNP |
| 2 | g.240783791A>G | CA351303238 | KIF1A | c.746T>C (p.Leu249Pro) n.904T>C n.897T>C n.902T>C c.168T>C | ClinVar dbSNP |
| 2 | g.240783791A= | CA1339288911 | KIF1A | c.746T= (p.Leu249=) n.904T= n.897T= n.902T= c.168T= | dbSNP |