| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88083161G>T | CA385992936 | CEP290 | c.4882C>A (p.Gln1628Lys) c.2166C>A c.*3053C>A (n.*3053C>A) n.3242C>A c.4861C>A (p.Gln1621Lys) c.5743C>A (p.Gln1915Lys) n.5109C>A c.5650C>A (p.Gln1884Lys) n.1187C>A n.3810C>A n.10608C>A c.*2795C>A (n.*2795C>A) c.4888C>A (p.Gln1630Lys) c.2062C>A (p.Gln688Lys) c.4975C>A (p.Gln1659Lys) c.4204C>A (p.Gln1402Lys) n.6087C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88083161G>A | CA277760 | CEP290 | c.4882C>T (p.Gln1628Ter) c.2166C>T c.*3053C>T (n.*3053C>T) n.3242C>T c.4861C>T (p.Gln1621Ter) c.5743C>T (p.Gln1915Ter) n.5109C>T c.5650C>T (p.Gln1884Ter) n.1187C>T n.3810C>T n.10608C>T c.*2795C>T (n.*2795C>T) c.4888C>T (p.Gln1630Ter) c.2062C>T (p.Gln688Ter) c.4975C>T (p.Gln1659Ter) c.4204C>T (p.Gln1402Ter) n.6087C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |