| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.36097074C>T | CA054127 | WDR62 | c.2515C>T (p.Arg839Trp) c.*1205C>T (n.*1205C>T) c.305C>T c.2500C>T (p.Arg834Trp) c.2509C>T (p.Arg837Trp) c.2164C>T (p.Arg722Trp) c.*1312C>T (n.*1312C>T) n.498C>T c.789C>T c.*914C>T (n.*914C>T) c.*1344C>T (n.*1344C>T) c.713C>T c.901C>T c.1507C>T (p.Arg503Trp) c.1093C>T (p.Arg365Trp) c.946C>T (p.Arg316Trp) c.262C>T (p.Arg88Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.36097074C= | CA2333968533 | WDR62 | c.2515C= (p.Arg839=) c.*1205C= (n.*1205C=) c.305C= c.2500C= (p.Arg834=) c.2509C= (p.Arg837=) c.2164C= (p.Arg722=) c.*1312C= (n.*1312C=) n.498C= c.789C= c.*914C= (n.*914C=) c.*1344C= (n.*1344C=) c.713C= c.901C= c.1507C= (p.Arg503=) c.1093C= (p.Arg365=) c.946C= (p.Arg316=) c.262C= (p.Arg88=) | dbSNP |