| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53199140G>C | CA413120751 | KDM5C | c.2080C>G (p.Arg694Gly) c.2077C>G (p.Arg693Gly) c.1585C>G (p.Arg529Gly) c.1957C>G (p.Arg653Gly) c.1879C>G (p.Arg627Gly) n.841C>G c.1096C>G (p.Arg366Gly) n.2426C>G n.2613C>G n.2610C>G n.2490C>G n.2406C>G n.2398C>G n.2395C>G n.2275C>G | dbSNP |
| X | g.53199140G>A | CA120653 | KDM5C | c.2080C>T (p.Arg694Ter) c.2077C>T (p.Arg693Ter) c.1585C>T (p.Arg529Ter) c.1957C>T (p.Arg653Ter) c.1879C>T (p.Arg627Ter) n.841C>T c.1096C>T (p.Arg366Ter) n.2426C>T n.2613C>T n.2610C>T n.2490C>T n.2406C>T n.2398C>T n.2395C>T n.2275C>T | ClinVar dbSNP |