| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.132642586C>T | CA6892693 | POLE | n.2495G>A c.2545G>A (n.2545G>A) n.2526G>A c.4726G>A c.5430G>A c.4872G>A (p.Trp1624Ter) c.*5078G>A (n.*5078G>A) c.4791G>A (p.Trp1597Ter) c.*4623G>A (n.*4623G>A) c.4743G>A (p.Trp1581Ter) c.3951G>A (p.Trp1317Ter) c.3534G>A (p.Trp1178Ter) c.1860G>A (p.Trp620Ter) n.5076G>A n.5125G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.132642586C= | CA2072988131 | POLE | n.2495G= c.2545G= (n.2545G=) n.2526G= c.4726G= c.5430G= c.4872G= (p.Trp1624=) c.*5078G= (n.*5078G=) c.4791G= (p.Trp1597=) c.*4623G= (n.*4623G=) c.4743G= (p.Trp1581=) c.3951G= (p.Trp1317=) c.3534G= (p.Trp1178=) c.1860G= (p.Trp620=) n.5076G= n.5125G= | dbSNP |