| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48755931A>G | CA171728 | CEP152 | c.3317T>C (p.Val1106Ala) c.3038T>C (p.Val1013Ala) c.1358T>C (p.Val453Ala) c.1352T>C (p.Val451Ala) n.4282T>C n.4268T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48755931A= | CA2175628290 | CEP152 | c.3317T= (p.Val1106=) c.3038T= (p.Val1013=) c.1358T= (p.Val453=) c.1352T= (p.Val451=) n.4282T= n.4268T= | dbSNP |