| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240783773G>A | CA128997 | KIF1A | c.764C>T (p.Ala255Val) n.922C>T n.915C>T n.920C>T c.186C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.240783773G= | CA1339288901 | KIF1A | c.764C= (p.Ala255=) n.922C= n.915C= n.920C= c.186C= | dbSNP |
| 2 | g.240783773G>T | CA351303108 | KIF1A | c.764C>A (p.Ala255Asp) n.922C>A n.915C>A n.920C>A c.186C>A | ClinVar dbSNP gnomAD v4 |