| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.132604850C>T | CA16611837 | RAD50 | c.2569C>T (p.Gln857Ter) c.2272C>T (p.Gln758Ter) n.2177C>T n.3088C>T c.*713C>T (n.*713C>T) c.*2652C>T (n.*2652C>T) c.*786C>T (n.*786C>T) c.2602C>T (p.Gln868Ter) c.*755C>T (n.*755C>T) c.*2195C>T (n.*2195C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.132604850C= | CA1583246284 | RAD50 | c.2569C= (p.Gln857=) c.2272C= (p.Gln758=) n.2177C= n.3088C= c.*713C= (n.*713C=) c.*2652C= (n.*2652C=) c.*786C= (n.*786C=) c.2602C= (p.Gln868=) c.*755C= (n.*755C=) c.*2195C= (n.*2195C=) | dbSNP |