| 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 |
| 11 | g.94479726T= | CA1992438815 | MRE11 | c.350A= (p.Asn117=) c.359A= (p.Asn120=) n.479-850A= c.-119A= (n.-119A=) n.646A= | dbSNP |