| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48768237T>C | CA129630 | CEP152 | c.2000A>G (p.Lys667Arg) c.1721A>G (p.Lys574Arg) c.35A>G (p.Lys12Arg) n.2965A>G n.2951A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48768237T= | CA2175642637 | CEP152 | c.2000A= (p.Lys667=) c.1721A= (p.Lys574=) c.35A= (p.Lys12=) n.2965A= n.2951A= | dbSNP |