| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.94437206G>A | CA119918 | MRE11 | c.1897C>T (p.Arg633Ter) c.1813C>T (p.Arg605Ter) c.1894C>T (p.Arg632Ter) c.1906C>T (p.Arg636Ter) c.1429C>T (p.Arg477Ter) n.2193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94437206G>C | CA382374743 | MRE11 | c.1897C>G (p.Arg633Gly) c.1813C>G (p.Arg605Gly) c.1894C>G (p.Arg632Gly) c.1906C>G (p.Arg636Gly) c.1429C>G (p.Arg477Gly) n.2193C>G | dbSNP gnomAD v4 |
| 11 | g.94437206G>T | CA226550803 | MRE11 | c.1897C>A (p.Arg633=) c.1813C>A (p.Arg605=) c.1894C>A (p.Arg632=) c.1906C>A (p.Arg636=) c.1429C>A (p.Arg477=) n.2193C>A | dbSNP gnomAD v4 |