| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240769153C>T | CA10584193 | KIF1A | c.1450G>A (p.Gly484Ser) c.1477G>A (p.Gly493Ser) c.688G>A (p.Gly230Ser) n.1608G>A n.747G>A c.1552G>A (p.Gly518Ser) n.1703G>A n.825G>A c.472G>A (p.Gly158Ser) c.1525G>A (p.Gly509Ser) | ClinVar dbSNP |
| 2 | g.240769153C>A | CA351329320 | KIF1A | c.1450G>T (p.Gly484Cys) c.1477G>T (p.Gly493Cys) c.688G>T (p.Gly230Cys) n.1608G>T n.747G>T c.1552G>T (p.Gly518Cys) n.1703G>T n.825G>T c.472G>T (p.Gly158Cys) c.1525G>T (p.Gly509Cys) | dbSNP |