| 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 | ClinVar 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 |
| 22 | g.28711922G>A | CA411103077 | CHEK2 | c.688C>T (n.688C>T) c.779C>T (p.Ser260Leu) c.578C>T (p.Ser193Leu) c.116C>T (p.Ser39Leu) c.119C>T (p.Ser40Leu) n.331C>T c.908C>T (p.Ser303Leu) c.506C>T (p.Ser169Leu) c.*269C>T (n.*269C>T) c.*504C>T (n.*504C>T) c.10C>T c.872C>T (p.Ser291Leu) c.250C>T (n.250C>T) c.669C>T (n.669C>T) c.34C>T n.336C>T c.299C>T (p.Ser100Leu) c.236C>T (p.Ser79Leu) c.938C>T (p.Ser313Leu) c.707C>T (p.Ser236Leu) c.608C>T (p.Ser203Leu) n.1000C>T n.995C>T c.332C>T (p.Ser111Leu) c.902C>T (p.Ser301Leu) c.809C>T (p.Ser270Leu) n.1011C>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.28711922G= | CA2400245952 | CHEK2 | c.688C= (n.688C=) c.779C= (p.Ser260=) c.578C= (p.Ser193=) c.116C= (p.Ser39=) c.119C= (p.Ser40=) n.331C= c.908C= (p.Ser303=) c.506C= (p.Ser169=) c.*269C= (n.*269C=) c.*504C= (n.*504C=) c.10C= c.872C= (p.Ser291=) c.250C= (n.250C=) c.669C= (n.669C=) c.34C= n.336C= c.299C= (p.Ser100=) c.236C= (p.Ser79=) c.938C= (p.Ser313=) c.707C= (p.Ser236=) c.608C= (p.Ser203=) n.1000C= n.995C= c.332C= (p.Ser111=) c.902C= (p.Ser301=) c.809C= (p.Ser270=) n.1011C= | dbSNP dbSNP |