| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88102888G>A | CA16043473 | CEP290 | c.2941C>T (p.Gln981Ter) c.225C>T c.*1112C>T (n.*1112C>T) n.1301C>T c.124C>T (p.Gln42Ter) c.2920C>T (p.Gln974Ter) c.3802C>T (p.Gln1268Ter) n.3168C>T c.3709C>T (p.Gln1237Ter) n.629C>T n.8667C>T c.*854C>T (n.*854C>T) c.2947C>T (p.Gln983Ter) c.121C>T (p.Gln41Ter) c.2200C>T (p.Gln734Ter) c.3034C>T (p.Gln1012Ter) c.2263C>T (p.Gln755Ter) n.4146C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.88102888G= | CA2052914431 | CEP290 | c.2941C= (p.Gln981=) c.225C= c.*1112C= (n.*1112C=) n.1301C= c.124C= (p.Gln42=) c.2920C= (p.Gln974=) c.3802C= (p.Gln1268=) n.3168C= c.3709C= (p.Gln1237=) n.629C= n.8667C= c.*854C= (n.*854C=) c.2947C= (p.Gln983=) c.121C= (p.Gln41=) c.2200C= (p.Gln734=) c.3034C= (p.Gln1012=) c.2263C= (p.Gln755=) n.4146C= | dbSNP |