| 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 |