Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94464121del | CA2615589366 | MRE11 | c.1222del (p.Thr408GlnfsTer20) c.1231del (p.Thr411GlnfsTer20) c.754del (p.Thr252GlnfsTer20) n.1518del | dbSNP gnomAD v4 |
11 | g.94464121dup | CA189291 | MRE11 | c.1222dup (p.Thr408AsnfsTer?) c.1231dup (p.Thr411AsnfsTer?) c.754dup (p.Thr252AsnfsTer?) n.1518dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |