| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88089032C>T | CA16043895 | CEP290 | c.4029G>A (p.Lys1343=) c.1313G>A c.*2200G>A (n.*2200G>A) n.2389G>A c.4008G>A (p.Lys1336=) c.4890G>A (p.Lys1630=) n.4256G>A c.4797G>A (p.Lys1599=) n.2957G>A n.9755G>A c.*1942G>A (n.*1942G>A) c.4035G>A (p.Lys1345=) c.1209G>A (p.Lys403=) c.4122G>A (p.Lys1374=) c.3351G>A (p.Lys1117=) n.5234G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88089032C= | CA2052918235 | CEP290 | c.4029G= (p.Lys1343=) c.1313G= c.*2200G= (n.*2200G=) n.2389G= c.4008G= (p.Lys1336=) c.4890G= (p.Lys1630=) n.4256G= c.4797G= (p.Lys1599=) n.2957G= n.9755G= c.*1942G= (n.*1942G=) c.4035G= (p.Lys1345=) c.1209G= (p.Lys403=) c.4122G= (p.Lys1374=) c.3351G= (p.Lys1117=) n.5234G= | dbSNP |