| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88139174T>A | CA16042812 | CEP290 | c.268A>T (p.Lys90Ter) n.495A>T c.166A>T (p.Lys56Ter) c.127A>T (p.Lys43Ter) n.612A>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.88139174T= | CA2052934125 | CEP290 | c.268A= (p.Lys90=) n.495A= c.166A= (p.Lys56=) c.127A= (p.Lys43=) n.612A= | dbSNP |
| 12 | g.88139174T>G | CA385988774 | CEP290 | c.268A>C (p.Lys90Gln) n.495A>C c.166A>C (p.Lys56Gln) c.127A>C (p.Lys43Gln) n.612A>C | dbSNP gnomAD v4 |