| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.36089289C>A | CA9395780 | WDR62 | c.1941C>A (p.Cys647Ter) c.*631C>A (n.*631C>A) c.259C>A c.1926C>A (p.Cys642Ter) c.1935C>A (p.Cys645Ter) c.1590C>A (p.Cys530Ter) c.*738C>A (n.*738C>A) c.391C>A n.2264C>A c.*340C>A (n.*340C>A) c.*770C>A (n.*770C>A) c.933C>A (p.Cys311Ter) c.519C>A (p.Cys173Ter) c.372C>A (p.Cys124Ter) n.2032C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.36089289C= | CA2333964902 | WDR62 | c.1941C= (p.Cys647=) c.*631C= (n.*631C=) c.259C= c.1926C= (p.Cys642=) c.1935C= (p.Cys645=) c.1590C= (p.Cys530=) c.*738C= (n.*738C=) c.391C= n.2264C= c.*340C= (n.*340C=) c.*770C= (n.*770C=) c.933C= (p.Cys311=) c.519C= (p.Cys173=) c.372C= (p.Cys124=) n.2032C= | dbSNP |
| 19 | g.36089289C>T | CA507110939 | WDR62 | c.1941C>T (p.Cys647=) c.*631C>T (n.*631C>T) c.259C>T c.1926C>T (p.Cys642=) c.1935C>T (p.Cys645=) c.1590C>T (p.Cys530=) c.*738C>T (n.*738C>T) c.391C>T n.2264C>T c.*340C>T (n.*340C>T) c.*770C>T (n.*770C>T) c.933C>T (p.Cys311=) c.519C>T (p.Cys173=) c.372C>T (p.Cys124=) n.2032C>T | dbSNP gnomAD v4 |