| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.94459466G>A | CA382371799 | MRE11 | c.1442C>T (p.Thr481Ile) c.1451C>T (p.Thr484Ile) c.974C>T (p.Thr325Ile) n.1738C>T | ClinVar dbSNP |
| 11 | g.94459466G>T | CA119927 | MRE11 | c.1442C>A (p.Thr481Lys) c.1451C>A (p.Thr484Lys) c.974C>A (p.Thr325Lys) n.1738C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |