| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71271802G>A | CA254266 | EYA1 | c.922C>T (p.Arg308Ter) c.820C>T (p.Arg274Ter) c.907C>T (p.Arg303Ter) c.*201C>T (n.*201C>T) c.158C>T n.1385C>T c.*689C>T (n.*689C>T) c.1009C>T (p.Arg337Ter) c.994C>T (p.Arg332Ter) c.991C>T (p.Arg331Ter) c.904C>T (p.Arg302Ter) c.823C>T (p.Arg275Ter) c.919C>T (p.Arg307Ter) c.-162C>T (n.-162C>T) n.1417C>T c.556C>T (p.Arg186Ter) c.859C>T (p.Arg287Ter) c.571C>T (p.Arg191Ter) c.1006C>T (p.Arg336Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.71271802G>C | CA4779621 | EYA1 | c.922C>G (p.Arg308Gly) c.820C>G (p.Arg274Gly) c.907C>G (p.Arg303Gly) c.*201C>G (n.*201C>G) c.158C>G n.1385C>G c.*689C>G (n.*689C>G) c.1009C>G (p.Arg337Gly) c.994C>G (p.Arg332Gly) c.991C>G (p.Arg331Gly) c.904C>G (p.Arg302Gly) c.823C>G (p.Arg275Gly) c.919C>G (p.Arg307Gly) c.-162C>G (n.-162C>G) n.1417C>G c.556C>G (p.Arg186Gly) c.859C>G (p.Arg287Gly) c.571C>G (p.Arg191Gly) c.1006C>G (p.Arg336Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |