| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57567515G>A | CA130087 | KIF5A | c.611G>A (p.Arg204Gln) c.506G>A (p.Arg169Gln) c.344G>A (p.Arg115Gln) n.844G>A | ClinVar dbSNP |
| 12 | g.57567515G>T | CA385499056 | KIF5A | c.611G>T (p.Arg204Leu) c.506G>T (p.Arg169Leu) c.344G>T (p.Arg115Leu) n.844G>T | ClinVar dbSNP |
| 12 | g.57567515G= | CA2038921634 | KIF5A | c.611G= (p.Arg204=) c.506G= (p.Arg169=) c.344G= (p.Arg115=) n.844G= | dbSNP |