| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57569274C>T | CA118521 | KIF5A | c.838C>T (p.Arg280Cys) c.733C>T (p.Arg245Cys) c.571C>T (p.Arg191Cys) n.1071C>T | ClinVar dbSNP |
| 12 | g.57569274C= | CA2038925750 | KIF5A | c.838C= (p.Arg280=) c.733C= (p.Arg245=) c.571C= (p.Arg191=) n.1071C= | dbSNP |