| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28711922G>C | CA411103079 | CHEK2 | c.688C>G (n.688C>G) c.779C>G (p.Ser260Ter) c.578C>G (p.Ser193Ter) c.116C>G (p.Ser39Ter) c.119C>G (p.Ser40Ter) n.331C>G c.908C>G (p.Ser303Ter) c.506C>G (p.Ser169Ter) c.*269C>G (n.*269C>G) c.*504C>G (n.*504C>G) c.10C>G c.872C>G (p.Ser291Ter) c.250C>G (n.250C>G) c.669C>G (n.669C>G) c.34C>G n.336C>G c.299C>G (p.Ser100Ter) c.236C>G (p.Ser79Ter) c.938C>G (p.Ser313Ter) c.707C>G (p.Ser236Ter) c.608C>G (p.Ser203Ter) n.1000C>G n.995C>G c.332C>G (p.Ser111Ter) c.902C>G (p.Ser301Ter) c.809C>G (p.Ser270Ter) n.1011C>G | dbSNP |
| 22 | g.28711922G>T | CA16616334 | CHEK2 | c.688C>A (n.688C>A) c.779C>A (p.Ser260Ter) c.578C>A (p.Ser193Ter) c.116C>A (p.Ser39Ter) c.119C>A (p.Ser40Ter) n.331C>A c.908C>A (p.Ser303Ter) c.506C>A (p.Ser169Ter) c.*269C>A (n.*269C>A) c.*504C>A (n.*504C>A) c.10C>A c.872C>A (p.Ser291Ter) c.250C>A (n.250C>A) c.669C>A (n.669C>A) c.34C>A n.336C>A c.299C>A (p.Ser100Ter) c.236C>A (p.Ser79Ter) c.938C>A (p.Ser313Ter) c.707C>A (p.Ser236Ter) c.608C>A (p.Ser203Ter) n.1000C>A n.995C>A c.332C>A (p.Ser111Ter) c.902C>A (p.Ser301Ter) c.809C>A (p.Ser270Ter) n.1011C>A | ClinVar dbSNP |