| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88089157G>A | CA277711 | CEP290 | c.3904C>T (p.Gln1302Ter) c.1188C>T c.*2075C>T (n.*2075C>T) n.2264C>T c.3883C>T (p.Gln1295Ter) c.4765C>T (p.Gln1589Ter) n.4131C>T c.4672C>T (p.Gln1558Ter) n.2832C>T n.9630C>T c.*1817C>T (n.*1817C>T) c.3910C>T (p.Gln1304Ter) c.1084C>T (p.Gln362Ter) c.3997C>T (p.Gln1333Ter) c.3226C>T (p.Gln1076Ter) n.5109C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.88089157G= | CA2052918402 | CEP290 | c.3904C= (p.Gln1302=) c.1188C= c.*2075C= (n.*2075C=) n.2264C= c.3883C= (p.Gln1295=) c.4765C= (p.Gln1589=) n.4131C= c.4672C= (p.Gln1558=) n.2832C= n.9630C= c.*1817C= (n.*1817C=) c.3910C= (p.Gln1304=) c.1084C= (p.Gln362=) c.3997C= (p.Gln1333=) c.3226C= (p.Gln1076=) n.5109C= | dbSNP |