Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132618134C>A | CA10578595 | RAD50 | c.3229C>A (p.Arg1077=) c.2932C>A (p.Arg978=) n.2837C>A n.3748C>A c.65C>A c.*2855C>A (n.*2855C>A) | ClinVar dbSNP gnomAD v4 |
5 | g.132618134C>T | CA3405544 | RAD50 | c.3229C>T (p.Arg1077Ter) c.2932C>T (p.Arg978Ter) n.2837C>T n.3748C>T c.65C>T c.*2855C>T (n.*2855C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |