| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.132642843G>A | CA6892741 | POLE | n.2328C>T c.2378C>T (n.2378C>T) n.2359C>T c.4559C>T c.5263C>T c.4705C>T (p.Gln1569Ter) c.*4911C>T (n.*4911C>T) c.4624C>T (p.Gln1542Ter) c.*4456C>T (n.*4456C>T) c.4576C>T (p.Gln1526Ter) c.3784C>T (p.Gln1262Ter) c.3367C>T (p.Gln1123Ter) c.1693C>T (p.Gln565Ter) n.4963C>T n.4909C>T n.4958C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.132642843G= | CA2072988688 | POLE | n.2328C= c.2378C= (n.2378C=) n.2359C= c.4559C= c.5263C= c.4705C= (p.Gln1569=) c.*4911C= (n.*4911C=) c.4624C= (p.Gln1542=) c.*4456C= (n.*4456C=) c.4576C= (p.Gln1526=) c.3784C= (p.Gln1262=) c.3367C= (p.Gln1123=) c.1693C= (p.Gln565=) n.4963C= n.4909C= n.4958C= | dbSNP |