Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94479726T>C | CA119921 | MRE11 | c.350A>G (p.Asn117Ser) c.359A>G (p.Asn120Ser) n.479-850A>G c.-119A>G (n.-119A>G) n.646A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94479726T>A | CA382378508 | MRE11 | c.350A>T (p.Asn117Ile) c.359A>T (p.Asn120Ile) n.479-850A>T c.-119A>T (n.-119A>T) n.646A>T | dbSNP |