| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88114488G>A | CA144389 | CEP290 | c.1984C>T (p.Gln662Ter) c.1909+610C>T (n.1909+610C>T) n.3540C>T c.*155C>T (n.*155C>T) c.1963C>T (p.Gln655Ter) c.2845C>T (p.Gln949Ter) n.2211C>T c.2752C>T (p.Gln918Ter) n.4047C>T c.1990C>T (p.Gln664Ter) c.1807+610C>T (n.1807+610C>T) c.1243C>T (p.Gln415Ter) c.2077C>T (p.Gln693Ter) c.1306C>T (p.Gln436Ter) n.3189C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88114488G= | CA2052924225 | CEP290 | c.1984C= (p.Gln662=) c.1909+610C= (n.1909+610C=) n.3540C= c.*155C= (n.*155C=) c.1963C= (p.Gln655=) c.2845C= (p.Gln949=) n.2211C= c.2752C= (p.Gln918=) n.4047C= c.1990C= (p.Gln664=) c.1807+610C= (n.1807+610C=) c.1243C= (p.Gln415=) c.2077C= (p.Gln693=) c.1306C= (p.Gln436=) n.3189C= | dbSNP |