| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57567508A>G | CA385499022 | KIF5A | c.604A>G (p.Ser202Gly) c.499A>G (p.Ser167Gly) c.337A>G (p.Ser113Gly) n.837A>G | ClinVar dbSNP |
| 12 | g.57567508A>C | CA16606674 | KIF5A | c.604A>C (p.Ser202Arg) c.499A>C (p.Ser167Arg) c.337A>C (p.Ser113Arg) n.837A>C | ClinVar dbSNP |