| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.94456323C>T | CA194035 | MRE11A | c.1516G>A (p.Glu506Lys) c.1048G>A (p.Glu350Lys) n.1812G>A c.1525G>A (p.Glu509Lys) | ClinVar dbSNP |
| 11 | g.94456323C>A | CA163970 | MRE11A | c.1516G>T (p.Glu506Ter) c.1048G>T (p.Glu350Ter) n.1812G>T c.1525G>T (p.Glu509Ter) | ClinVar dbSNP ExAC gnomAD |