Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132618277T>G | CA3405561 | RAD50 | c.3372T>G (p.Tyr1124Ter) c.3075T>G (p.Tyr1025Ter) n.2980T>G n.3891T>G c.208T>G c.7T>G c.*2998T>G (n.*2998T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132618277T>A | CA10578599 | RAD50 | c.3372T>A (p.Tyr1124Ter) c.3075T>A (p.Tyr1025Ter) n.2980T>A n.3891T>A c.208T>A c.7T>A c.*2998T>A (n.*2998T>A) | ClinVar dbSNP gnomAD v4 |