| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48756289G>A | CA210938 | CEP152 | c.2959C>T (p.Arg987Ter) c.2680C>T (p.Arg894Ter) c.1000C>T (p.Arg334Ter) c.994C>T (p.Arg332Ter) n.3924C>T n.3910C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756289G>C | CA7548439 | CEP152 | c.2959C>G (p.Arg987Gly) c.2680C>G (p.Arg894Gly) c.1000C>G (p.Arg334Gly) c.994C>G (p.Arg332Gly) n.3924C>G n.3910C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |