| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48767448A>G | CA7548674 | CEP152 | c.2034T>C (p.Tyr678=) c.1755T>C (p.Tyr585=) c.75T>C (p.Tyr25=) c.69T>C (p.Tyr23=) n.2999T>C n.2985T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48767448A>C | CA211025 | CEP152 | c.2034T>G (p.Tyr678Ter) c.1755T>G (p.Tyr585Ter) c.75T>G (p.Tyr25Ter) c.69T>G (p.Tyr23Ter) n.2999T>G n.2985T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48767448A>T | CA392349021 | CEP152 | c.2034T>A (p.Tyr678Ter) c.1755T>A (p.Tyr585Ter) c.75T>A (p.Tyr25Ter) c.69T>A (p.Tyr23Ter) n.2999T>A n.2985T>A | dbSNP gnomAD v4 |
| 15 | g.48767448A= | CA2175642340 | CEP152 | c.2034T= (p.Tyr678=) c.1755T= (p.Tyr585=) c.75T= (p.Tyr25=) c.69T= (p.Tyr23=) n.2999T= n.2985T= | dbSNP |