| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88086083G>A | CA277705 | CEP290 | c.4393C>T (p.Arg1465Ter) c.1677C>T c.*2564C>T (n.*2564C>T) n.2753C>T c.4372C>T (p.Arg1458Ter) c.5254C>T (p.Arg1752Ter) n.4620C>T c.5161C>T (p.Arg1721Ter) n.698C>T n.3321C>T n.10119C>T c.*2306C>T (n.*2306C>T) c.4399C>T (p.Arg1467Ter) c.1573C>T (p.Arg525Ter) c.4486C>T (p.Arg1496Ter) c.3715C>T (p.Arg1239Ter) n.5598C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88086083G= | CA2052915269 | CEP290 | c.4393C= (p.Arg1465=) c.1677C= c.*2564C= (n.*2564C=) n.2753C= c.4372C= (p.Arg1458=) c.5254C= (p.Arg1752=) n.4620C= c.5161C= (p.Arg1721=) n.698C= n.3321C= n.10119C= c.*2306C= (n.*2306C=) c.4399C= (p.Arg1467=) c.1573C= (p.Arg525=) c.4486C= (p.Arg1496=) c.3715C= (p.Arg1239=) n.5598C= | dbSNP |
| 12 | g.88086083G>T | CA481076800 | CEP290 | c.4393C>A (p.Arg1465=) c.1677C>A c.*2564C>A (n.*2564C>A) n.2753C>A c.4372C>A (p.Arg1458=) c.5254C>A (p.Arg1752=) n.4620C>A c.5161C>A (p.Arg1721=) n.698C>A n.3321C>A n.10119C>A c.*2306C>A (n.*2306C>A) c.4399C>A (p.Arg1467=) c.1573C>A (p.Arg525=) c.4486C>A (p.Arg1496=) c.3715C>A (p.Arg1239=) n.5598C>A | dbSNP gnomAD v4 |