Summary of variations discovered in CHEK2 in an expanded DLBCL cohort (n = 235)
| DNA | Protein | Novel/SNP | Mutated tumors | Somatic/germline | Ethnic origin | MAF controls‡ | MAF 1000 genomes§ | SIFT | Polyphen |
| c.319+2T>A | - | Novel | 1/171 | ND | Swedish | 0 | 0 | - | - |
| c.876dupT | p.D293X | Novel | 1/171 | Somatic | Swedish | 0 | 0 | - | - |
| c.1007A>T | p.Q336L | Novel | 1/64 | Somatic | Chinese | 0 | 0 | Damaging | Damaging (possibly) |
| c.1091T>C | p.I364T | Novel | 1/171 | ND | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.7C>T | p.R3W | rs199708878 | 1/171 | Germline | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.349A>G | p.R117G | rs28909982 | 1/171 | ND | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.444+1G>A | - | Reported | 1/171 | Germline | Swedish | 0 | 0 | - | - |
| c.1312G>T | p.D438Y | rs200050883 | 2/164 | ND | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.1582G>A | p.E528K | rs138040612 | 1/64 | Germline | Chinese | 0 | 0 | Tolerated | Damaging (possibly) |
| c.470T>C | p.I157T | rs17879961 | 3/171 | Germline (1) | Swedish | 0.008 | 0.007 | Tolerated | Damaging (possibly) |
| c.538C>T | p.R180C | rs77130927 | 1/171 | ND | Swedish | 0.006 | 0.001 | Damaging | Damaging (possibly) |
| c.1100delC | p.T367Mfs*15 | Reported | 3/163 | ND | Swedish | 0.006 | 0 | - | - |
| c.1111C>T | p.H371Y | Reported | 2/64 | Somatic/germline | Chinese | 0.004 | 0 | Damaging | Benign |
| DNA | Protein | Novel/SNP | Mutated tumors | Somatic/germline | Ethnic origin | MAF controls‡ | MAF 1000 genomes§ | SIFT | Polyphen |
| c.319+2T>A | - | Novel | 1/171 | ND | Swedish | 0 | 0 | - | - |
| c.876dupT | p.D293X | Novel | 1/171 | Somatic | Swedish | 0 | 0 | - | - |
| c.1007A>T | p.Q336L | Novel | 1/64 | Somatic | Chinese | 0 | 0 | Damaging | Damaging (possibly) |
| c.1091T>C | p.I364T | Novel | 1/171 | ND | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.7C>T | p.R3W | rs199708878 | 1/171 | Germline | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.349A>G | p.R117G | rs28909982 | 1/171 | ND | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.444+1G>A | - | Reported | 1/171 | Germline | Swedish | 0 | 0 | - | - |
| c.1312G>T | p.D438Y | rs200050883 | 2/164 | ND | Swedish | 0 | 0 | Damaging | Damaging (probably) |
| c.1582G>A | p.E528K | rs138040612 | 1/64 | Germline | Chinese | 0 | 0 | Tolerated | Damaging (possibly) |
| c.470T>C | p.I157T | rs17879961 | 3/171 | Germline (1) | Swedish | 0.008 | 0.007 | Tolerated | Damaging (possibly) |
| c.538C>T | p.R180C | rs77130927 | 1/171 | ND | Swedish | 0.006 | 0.001 | Damaging | Damaging (possibly) |
| c.1100delC | p.T367Mfs*15 | Reported | 3/163 | ND | Swedish | 0.006 | 0 | - | - |
| c.1111C>T | p.H371Y | Reported | 2/64 | Somatic/germline | Chinese | 0.004 | 0 | Damaging | Benign |
The expanded DLBCL cohort was comprised of 171 Swedish and 64 Chinese cases. Population-specific MAFs for MAF controls were calculated by typing 1,030 Swedish or 429 Chinese controls, with an exception for p.D438Y, p.E528K, and c.1100delC variants, which were screened by Sanger in 703, 361, and 345 controls, respectively. For MAF, data from 1,000 genomes were available for 379 European and 197 Chinese controls. ND, not determined. (1), germline origin was confirmed in one patient.