| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88117076A>T | CA6712475 | CEP290 | c.1781T>A (p.Leu594Ter) c.1727T>A (p.Leu576Ter) n.3380+1407T>A c.1711+1407T>A (n.1711+1407T>A) c.1760T>A (p.Leu587Ter) c.*327T>A (n.*327T>A) n.2008T>A c.*2736T>A (n.*2736T>A) n.3844T>A c.1787T>A (p.Leu596Ter) c.1679T>A (p.Leu560Ter) c.947T>A (p.Leu316Ter) c.242T>A (p.Leu81Ter) n.2125T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88117076A>G | CA385978145 | CEP290 | c.1781T>C (p.Leu594Ser) c.1727T>C (p.Leu576Ser) n.3380+1407T>C c.1711+1407T>C (n.1711+1407T>C) c.1760T>C (p.Leu587Ser) c.*327T>C (n.*327T>C) n.2008T>C c.*2736T>C (n.*2736T>C) n.3844T>C c.1787T>C (p.Leu596Ser) c.1679T>C (p.Leu560Ser) c.947T>C (p.Leu316Ser) c.242T>C (p.Leu81Ser) n.2125T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.88117076A= | CA2052928028 | CEP290 | c.1781T= (p.Leu594=) c.1727T= (p.Leu576=) n.3380+1407T= c.1711+1407T= (n.1711+1407T=) c.1760T= (p.Leu587=) c.*327T= (n.*327T=) n.2008T= c.*2736T= (n.*2736T=) n.3844T= c.1787T= (p.Leu596=) c.1679T= (p.Leu560=) c.947T= (p.Leu316=) c.242T= (p.Leu81=) n.2125T= | dbSNP |