| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.45512277G>A | CA280134 | RUNX2 | c.849G>A (p.Trp283Ter) c.891G>A (p.Trp297Ter) c.675G>A (p.Trp225Ter) c.*412G>A (n.*412G>A) c.1095G>A (p.Trp365Ter) c.921G>A (p.Trp307Ter) c.423G>A (p.Trp141Ter) n.1689G>A | ClinVar dbSNP |
| 6 | g.45512277G= | CA1625477250 | RUNX2 | c.849G= (p.Trp283=) c.891G= (p.Trp297=) c.675G= (p.Trp225=) c.*412G= (n.*412G=) c.1095G= (p.Trp365=) c.921G= (p.Trp307=) c.423G= (p.Trp141=) n.1689G= | dbSNP |