| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57567598G>A | CA174974 | KIF5A | c.694G>A (p.Asp232Asn) c.589G>A (p.Asp197Asn) c.427G>A (p.Asp143Asn) n.927G>A | ClinVar dbSNP |
| 12 | g.57567598G= | CA2038921765 | KIF5A | c.694G= (p.Asp232=) c.589G= (p.Asp197=) c.427G= (p.Asp143=) n.927G= | dbSNP |