| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88084768G>A | CA277724 | CEP290 | c.4522C>T (p.Arg1508Ter) c.1806C>T c.*2693C>T (n.*2693C>T) n.2882C>T c.4501C>T (p.Arg1501Ter) c.5383C>T (p.Arg1795Ter) n.4749C>T c.5290C>T (p.Arg1764Ter) n.827C>T n.3450C>T n.10248C>T c.*2435C>T (n.*2435C>T) c.4528C>T (p.Arg1510Ter) c.1702C>T (p.Arg568Ter) c.4615C>T (p.Arg1539Ter) c.3844C>T (p.Arg1282Ter) n.5727C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88084768G= | CA2052914170 | CEP290 | c.4522C= (p.Arg1508=) c.1806C= c.*2693C= (n.*2693C=) n.2882C= c.4501C= (p.Arg1501=) c.5383C= (p.Arg1795=) n.4749C= c.5290C= (p.Arg1764=) n.827C= n.3450C= n.10248C= c.*2435C= (n.*2435C=) c.4528C= (p.Arg1510=) c.1702C= (p.Arg568=) c.4615C= (p.Arg1539=) c.3844C= (p.Arg1282=) n.5727C= | dbSNP |