| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.45438039C>T | CA280139 | RUNX2 | c.631C>T (p.Arg211Trp) c.673C>T (p.Arg225Trp) c.*194C>T (n.*194C>T) c.877C>T (p.Arg293Trp) c.205C>T (p.Arg69Trp) n.1389C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.45438039C= | CA1625444641 | RUNX2 | c.631C= (p.Arg211=) c.673C= (p.Arg225=) c.*194C= (n.*194C=) c.877C= (p.Arg293=) c.205C= (p.Arg69=) n.1389C= | dbSNP |