| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48767444G>C | CA392348990 | CEP152 | c.2038C>G (p.Gln680Glu) c.1759C>G (p.Gln587Glu) c.79C>G (p.Gln27Glu) c.73C>G (p.Gln25Glu) n.3003C>G n.2989C>G | dbSNP |
| 15 | g.48767444G>A | CA10588590 | CEP152 | c.2038C>T (p.Gln680Ter) c.1759C>T (p.Gln587Ter) c.79C>T (p.Gln27Ter) c.73C>T (p.Gln25Ter) n.3003C>T n.2989C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48767444G= | CA2175642336 | CEP152 | c.2038C= (p.Gln680=) c.1759C= (p.Gln587=) c.79C= (p.Gln27=) c.73C= (p.Gln25=) n.3003C= n.2989C= | dbSNP |