| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5887394G>A | CA116183 | NPHP4 | c.2377C>T (p.Gln793Ter) c.*1278C>T (n.*1278C>T) c.606C>T n.2109C>T c.2374C>T (p.Gln792Ter) c.838C>T (p.Gln280Ter) c.841C>T (p.Gln281Ter) n.2642C>T c.2266C>T (p.Gln756Ter) c.2323C>T (p.Gln775Ter) n.2415C>T n.2254C>T c.1849C>T (p.Gln617Ter) c.1579C>T (p.Gln527Ter) n.2594C>T | ClinVar dbSNP |
| 1 | g.5887394G= | CA1141580545 | NPHP4 | c.2377C= (p.Gln793=) c.*1278C= (n.*1278C=) c.606C= n.2109C= c.2374C= (p.Gln792=) c.838C= (p.Gln280=) c.841C= (p.Gln281=) n.2642C= c.2266C= (p.Gln756=) c.2323C= (p.Gln775=) n.2415C= n.2254C= c.1849C= (p.Gln617=) c.1579C= (p.Gln527=) n.2594C= | dbSNP |