| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88071373G>A | CA277735 | CEP290 | c.5932C>T (p.Arg1978Ter) c.3216C>T c.*4103C>T (n.*4103C>T) n.4292C>T c.5911C>T (p.Arg1971Ter) c.6793C>T (p.Arg2265Ter) n.6159C>T c.6700C>T (p.Arg2234Ter) n.2237C>T n.4860C>T n.11658C>T c.*3845C>T (n.*3845C>T) c.5938C>T (p.Arg1980Ter) c.3112C>T (p.Arg1038Ter) c.6025C>T (p.Arg2009Ter) c.5254C>T (p.Arg1752Ter) n.968-10940G>A n.7137C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.88071373G>C | CA385983738 | CEP290 | c.5932C>G (p.Arg1978Gly) c.3216C>G c.*4103C>G (n.*4103C>G) n.4292C>G c.5911C>G (p.Arg1971Gly) c.6793C>G (p.Arg2265Gly) n.6159C>G c.6700C>G (p.Arg2234Gly) n.2237C>G n.4860C>G n.11658C>G c.*3845C>G (n.*3845C>G) c.5938C>G (p.Arg1980Gly) c.3112C>G (p.Arg1038Gly) c.6025C>G (p.Arg2009Gly) c.5254C>G (p.Arg1752Gly) n.968-10940G>C n.7137C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.88071373G= | CA2052911272 | CEP290 | c.5932C= (p.Arg1978=) c.3216C= c.*4103C= (n.*4103C=) n.4292C= c.5911C= (p.Arg1971=) c.6793C= (p.Arg2265=) n.6159C= c.6700C= (p.Arg2234=) n.2237C= n.4860C= n.11658C= c.*3845C= (n.*3845C=) c.5938C= (p.Arg1980=) c.3112C= (p.Arg1038=) c.6025C= (p.Arg2009=) c.5254C= (p.Arg1752=) n.968-10940G= n.7137C= | dbSNP |