Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94470569dup | CA165722 | MRE11 | c.923dup (p.Met309HisfsTer8) c.932dup (p.Met312HisfsTer8) c.455dup (p.Met153HisfsTer8) n.1219dup | ClinVar dbSNP gnomAD v4 |
11 | g.94470569del | CA2831038851 | MRE11 | c.923del (p.Phe308SerfsTer7) c.932del (p.Phe311SerfsTer7) c.455del (p.Phe152SerfsTer7) n.1219del | ClinVar dbSNP |