| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.94478771G>A | CA166507 | MRE11 | c.508C>T (p.Gln170Ter) c.517C>T (p.Gln173Ter) n.584C>T c.40C>T (p.Gln14Ter) n.804C>T | ClinVar dbSNP |
| 11 | g.94478771G>T | CA6235382 | MRE11 | c.508C>A (p.Gln170Lys) c.517C>A (p.Gln173Lys) n.584C>A c.40C>A (p.Gln14Lys) n.804C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |