| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88053733G>T | CA16043896 | CEP290 | c.7057C>A (p.Gln2353Lys) c.4017C>A c.7048C>A (p.Gln2350Lys) n.827C>A c.*5054C>A (n.*5054C>A) n.5408C>A c.6925C>A (p.Gln2309Lys) n.575C>A n.4001C>A c.*5C>A (n.*5C>A) c.7027C>A (p.Gln2343Lys) c.6883C>A (p.Gln2295Lys) c.7909C>A (p.Gln2637Lys) n.9030C>A c.*5219C>A (n.*5219C>A) c.7816C>A (p.Gln2606Lys) n.3353C>A n.7731C>A n.3242C>A n.12774C>A c.7054C>A (p.Gln2352Lys) c.4228C>A (p.Gln1410Lys) c.7918C>A (p.Gln2640Lys) c.7915C>A (p.Gln2639Lys) c.7795C>A (p.Gln2599Lys) c.7753C>A (p.Gln2585Lys) c.7150C>A (p.Gln2384Lys) c.6379C>A (p.Gln2127Lys) c.7786C>A (p.Gln2596Lys) c.7744C>A (p.Gln2582Lys) c.7036C>A (p.Gln2346Lys) n.8179C>A n.8014C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.88053733G>A | CA6711362 | CEP290 | c.7057C>T (p.Gln2353Ter) c.4017C>T c.7048C>T (p.Gln2350Ter) n.827C>T c.*5054C>T (n.*5054C>T) n.5408C>T c.6925C>T (p.Gln2309Ter) n.575C>T n.4001C>T c.*5C>T (n.*5C>T) c.7027C>T (p.Gln2343Ter) c.6883C>T (p.Gln2295Ter) c.7909C>T (p.Gln2637Ter) n.9030C>T c.*5219C>T (n.*5219C>T) c.7816C>T (p.Gln2606Ter) n.3353C>T n.7731C>T n.3242C>T n.12774C>T c.7054C>T (p.Gln2352Ter) c.4228C>T (p.Gln1410Ter) c.7918C>T (p.Gln2640Ter) c.7915C>T (p.Gln2639Ter) c.7795C>T (p.Gln2599Ter) c.7753C>T (p.Gln2585Ter) c.7150C>T (p.Gln2384Ter) c.6379C>T (p.Gln2127Ter) c.7786C>T (p.Gln2596Ter) c.7744C>T (p.Gln2582Ter) c.7036C>T (p.Gln2346Ter) n.8179C>T n.8014C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |