| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88130324G>C | CA385986280 | CEP290 | c.613C>G (p.Arg205Gly) c.559C>G (p.Arg187Gly) n.840C>G c.592C>G (p.Arg198Gly) c.*126C>G (n.*126C>G) n.2676C>G c.511C>G (p.Arg171Gly) n.957C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.88130324G>A | CA114937 | CEP290 | c.613C>T (p.Arg205Ter) c.559C>T (p.Arg187Ter) n.840C>T c.592C>T (p.Arg198Ter) c.*126C>T (n.*126C>T) n.2676C>T c.511C>T (p.Arg171Ter) n.957C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.88130324G= | CA2052923128 | CEP290 | c.613C= (p.Arg205=) c.559C= (p.Arg187=) n.840C= c.592C= (p.Arg198=) c.*126C= (n.*126C=) n.2676C= c.511C= (p.Arg171=) n.957C= | dbSNP |