| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240788208G>A | CA346824 | KIF1A | c.206C>T (p.Ser69Leu) n.364C>T n.357C>T n.362C>T c.229C>T | ClinVar dbSNP |
| 2 | g.240788208G>C | CA351310990 | KIF1A | c.206C>G (p.Ser69Trp) n.364C>G n.357C>G n.362C>G c.229C>G | ClinVar dbSNP |
| 2 | g.240788208G= | CA1339291479 | KIF1A | c.206C= (p.Ser69=) n.364C= n.357C= n.362C= c.229C= | dbSNP |