| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.94456323C>T | CA194035 | MRE11 | c.1516G>A (p.Glu506Lys) c.1525G>A (p.Glu509Lys) c.1048G>A (p.Glu350Lys) n.1812G>A | ClinVar dbSNP |
| 11 | g.94456323C>A | CA163970 | MRE11 | c.1516G>T (p.Glu506Ter) c.1525G>T (p.Glu509Ter) c.1048G>T (p.Glu350Ter) n.1812G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |