| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48756099A>G | CA210980 | CEP152 | c.3149T>C (p.Leu1050Pro) c.2870T>C (p.Leu957Pro) c.1190T>C (p.Leu397Pro) c.1184T>C (p.Leu395Pro) n.4114T>C n.4100T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756099A= | CA2175628533 | CEP152 | c.3149T= (p.Leu1050=) c.2870T= (p.Leu957=) c.1190T= (p.Leu397=) c.1184T= (p.Leu395=) n.4114T= n.4100T= | dbSNP |