| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28720697_28727416dup | CA2580615278 | CHEK2 | c.320-2048_592+4281dup c.320-2048_593-1211dup c.320-2048_482+4190dup c.-344-2048_-71-1211dup c.-71-7930_-71-1211dup (n.-71-7930_-71-1211dup) c.449-2048_722-1211dup c.319+6988_320-1211dup (n.319+6988_320-1211dup) c.320-2048_*82+822dup c.320-2048_*318-1211dup c.413-2048_686-1211dup c.320-2048_483-1211dup c.-458-2048_-72+822dup c.479-2048_752-1211dup c.449-2048_611+4190dup c.350-2048_512+4190dup n.541-2048_814-1211dup n.536-2048_809-1211dup c.443-2048_716-1211dup c.350-2048_623-1211dup n.552-2048_825-1211dup | |
| 22 | g.28724168_28725100delinsGAGGCTGAAGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAGTACAAAAAAATTAGATGGGTGTGGTGGCAGGAGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGGAGAATCGCTTGAAACTGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCACCACTGCACTCCAGCCCAGGTGACAGTGCAAGACTCCGTCTAAAAAAAAACAAAACAAAACAAAACAAAAAAAACAGTATATGGCATTACATAAAACCAATTAAACCTTAAAACCTTAAAAATCTGTCTGGATGGAACTTTTTCATAATTTTACAATGCAACTAGGACGGCAAAGTTGAATCTTGAGTGCTAACTTACTCATCTTTTTTTTTGTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTTATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTGGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCAACTTACTCATCTTTACTCACTTAAACCATATTCTGTAAGGACAGGACAAATTTTCCTCCTATGAGAGAGTGGAAAAAAAAAATTCCAGTAACCATAAGATAATAATATTACCTTTATTTCTGCTTAGTGACAGTGCAATTTCAGAATTGTTATTCAAAGGACGGCGTTTTCCTTTCCCTACAAGCTCTGTATTTACAAAGGTTCCATTGCCACTGTGATCTTCTATGTATGCAAT | CA2400251742 | CHEK2 | c.469_592+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.444+143_482+718delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.-195_-72+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.-71-5615_-71-4683delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC (n.-71-5615_-71-4683delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC) c.598_721+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.320-5615_320-4683delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC (n.320-5615_320-4683delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC) c.444+143_*317+397delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.562_685+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.31_154+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.-309_-186+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.628_751+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.573+143_611+718delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.474+143_512+718delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC n.690_813+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC n.685_808+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.592_715+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC c.499_622+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC n.701_824+809delinsATTGCATACATAGAAGATCACAGTGGCAATGGAACCTTTGTAAATACAGAGCTTGTAGGGAAAGGAAAACGCCGTCCTTTGAATAACAATTCTGAAATTGCACTGTCACTAAGCAGAAATAAAGGTAATATTATTATCTTATGGTTACTGGAATTTTTTTTTTCCACTCTCTCATAGGAGGAAAATTTGTCCTGTCCTTACAGAATATGGTTTAAGTGAGTAAAGATGAGTAAGTTGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCCACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATAAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAACAAAAAAAAAGATGAGTAAGTTAGCACTCAAGATTCAACTTTGCCGTCCTAGTTGCATTGTAAAATTATGAAAAAGTTCCATCCAGACAGATTTTTAAGGTTTTAAGGTTTAATTGGTTTTATGTAATGCCATATACTGTTTTTTTTGTTTTGTTTTGTTTTGTTTTTTTTTAGACGGAGTCTTGCACTGTCACCTGGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGTTTCAAGCGATTCTCCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCATCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTCAGCCTC | |
| 22 | g.28724169_28725100del | CA916083802 | CHEK2 | c.469_592+808del c.444+143_482+717del c.-195_-72+808del c.-71-5615_-71-4684del (n.-71-5615_-71-4684del) c.598_721+808del c.320-5615_320-4684del (n.320-5615_320-4684del) c.444+143_*317+396del c.562_685+808del c.31_154+808del c.-309_-186+808del c.628_751+808del c.573+143_611+717del c.474+143_512+717del n.690_813+808del n.685_808+808del c.592_715+808del c.499_622+808del n.701_824+808del | ClinVar dbSNP |
| 22 | g.28724637_28727210dup | CA2580099400 | CHEK2 | c.320-1843_592+340dup c.320-1843_482+249dup c.-344-1843_-72+340dup c.-71-7725_-71-5152dup (n.-71-7725_-71-5152dup) c.449-1843_721+340dup c.319+7193_320-5152dup (n.319+7193_320-5152dup) c.320-1843_*245dup c.413-1843_685+340dup c.-458-1843_-186+340dup c.479-1843_751+340dup c.449-1843_611+249dup c.350-1843_512+249dup n.541-1843_813+340dup n.536-1843_808+340dup c.443-1843_715+340dup c.350-1843_622+340dup n.552-1843_824+340dup | ClinVar |
| 22 | g.28724661_28727169dup | CA2580099401 | CHEK2 | c.320-1801_592+317dup c.320-1801_482+226dup c.-344-1801_-72+317dup c.-71-7683_-71-5175dup (n.-71-7683_-71-5175dup) c.449-1801_721+317dup c.319+7235_320-5175dup (n.319+7235_320-5175dup) c.320-1801_*222dup c.413-1801_685+317dup c.-458-1801_-186+317dup c.479-1801_751+317dup c.449-1801_611+226dup c.350-1801_512+226dup n.541-1801_813+317dup n.536-1801_808+317dup c.443-1801_715+317dup c.350-1801_622+317dup n.552-1801_824+317dup | ClinVar |
| 22 | g.28724974_28725249del | CA2499226086 | CHEK2 | c.438_592+3del c.*418_*575del c.438_445-51del c.-226_-72+3del c.-71-5764_-71-5489del (n.-71-5764_-71-5489del) c.567_721+3del c.320-5764_320-5489del (n.320-5764_320-5489del) c.531_685+3del c.556_713del c.-340_-186+3del c.597_751+3del c.567_574-51del c.468_475-51del n.659_813+3del n.654_808+3del c.561_715+3del c.468_622+3del n.670_824+3del | ClinVar dbSNP |
| 22 | g.28724985_28725015del | CA2582342772 | CHEK2 | c.555_585del (p.Asn185LysfsTer19) c.*535_*565del (n.*535_*565del) c.555_585del (p.Asn185LysfsTer10) c.445-91_445-61del (n.445-91_445-61del) c.-109_-79del (n.-109_-79del) c.-71-5529_-71-5499del (n.-71-5529_-71-5499del) c.555_585del (p.Asn185LysfsTer?) c.684_714del (p.Asn228LysfsTer10) c.320-5529_320-5499del (n.320-5529_320-5499del) c.648_678del (p.Asn216LysfsTer10) c.117_147del (p.Asn39LysfsTer19) c.673_703del (n.673_703del) c.-223_-193del (n.-223_-193del) c.714_744del (p.Asn238LysfsTer10) c.574-91_574-61del (n.574-91_574-61del) c.475-91_475-61del (n.475-91_475-61del) n.776_806del n.771_801del c.678_708del (p.Asn226LysfsTer10) c.585_615del (p.Asn195LysfsTer10) n.787_817del | ClinVar |
| 22 | g.28724995_28725000del | CA2580099410 | CHEK2 | c.573_578del (p.Ser192_Leu193del) c.*553_*558del (n.*553_*558del) c.445-73_445-68del (n.445-73_445-68del) c.-91_-86del (n.-91_-86del) c.-71-5511_-71-5506del (n.-71-5511_-71-5506del) c.702_707del (p.Ser235_Leu236del) c.320-5511_320-5506del (n.320-5511_320-5506del) c.666_671del (p.Ser223_Leu224del) c.135_140del (p.Ser46_Leu47del) c.691_696del (n.691_696del) c.-205_-200del (n.-205_-200del) c.732_737del (p.Ser245_Leu246del) c.574-73_574-68del (n.574-73_574-68del) c.475-73_475-68del (n.475-73_475-68del) n.794_799del n.789_794del c.696_701del (p.Ser233_Leu234del) c.603_608del (p.Ser202_Leu203del) n.805_810del | ClinVar |
| 22 | g.28724999del | CA2580099413 | CHEK2 | c.570del (p.Leu191CysfsTer3) c.*550del (n.*550del) c.445-76del (n.445-76del) c.-94del (n.-94del) c.-71-5514del (n.-71-5514del) c.699del (p.Leu234CysfsTer3) c.320-5514del (n.320-5514del) c.663del (p.Leu222CysfsTer3) c.132del (p.Leu45CysfsTer3) c.688del (n.688del) c.-208del (n.-208del) c.729del (p.Leu244CysfsTer3) c.574-76del (n.574-76del) c.475-76del (n.475-76del) n.791del n.786del c.693del (p.Leu232CysfsTer3) c.600del (p.Leu201CysfsTer3) n.802del | ClinVar |
| 22 | g.28724999T>A | CA10167980 | CHEK2 | c.570A>T (p.Ala190=) c.*550A>T (n.*550A>T) c.445-76A>T (n.445-76A>T) c.-94A>T (n.-94A>T) c.-71-5514A>T (n.-71-5514A>T) c.699A>T (p.Ala233=) c.320-5514A>T (n.320-5514A>T) c.663A>T (p.Ala221=) c.132A>T (p.Ala44=) c.688A>T (n.688A>T) c.-208A>T (n.-208A>T) c.729A>T (p.Ala243=) c.574-76A>T (n.574-76A>T) c.475-76A>T (n.475-76A>T) n.791A>T n.786A>T c.693A>T (p.Ala231=) c.600A>T (p.Ala200=) n.802A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 22 | g.28724999T>C | CA514168716 | CHEK2 | c.570A>G (p.Ala190=) c.*550A>G (n.*550A>G) c.445-76A>G (n.445-76A>G) c.-94A>G (n.-94A>G) c.-71-5514A>G (n.-71-5514A>G) c.699A>G (p.Ala233=) c.320-5514A>G (n.320-5514A>G) c.663A>G (p.Ala221=) c.132A>G (p.Ala44=) c.688A>G (n.688A>G) c.-208A>G (n.-208A>G) c.729A>G (p.Ala243=) c.574-76A>G (n.574-76A>G) c.475-76A>G (n.475-76A>G) n.791A>G n.786A>G c.693A>G (p.Ala231=) c.600A>G (p.Ala200=) n.802A>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.28724999T>G | CA514168715 | CHEK2 | c.570A>C (p.Ala190=) c.*550A>C (n.*550A>C) c.445-76A>C (n.445-76A>C) c.-94A>C (n.-94A>C) c.-71-5514A>C (n.-71-5514A>C) c.699A>C (p.Ala233=) c.320-5514A>C (n.320-5514A>C) c.663A>C (p.Ala221=) c.132A>C (p.Ala44=) c.688A>C (n.688A>C) c.-208A>C (n.-208A>C) c.729A>C (p.Ala243=) c.574-76A>C (n.574-76A>C) c.475-76A>C (n.475-76A>C) n.791A>C n.786A>C c.693A>C (p.Ala231=) c.600A>C (p.Ala200=) n.802A>C | dbSNP gnomAD v4 |
| 22 | g.28724999T= | CA2400252187 | CHEK2 | c.570A= (p.Ala190=) c.*550A= (n.*550A=) c.445-76A= (n.445-76A=) c.-94A= (n.-94A=) c.-71-5514A= (n.-71-5514A=) c.699A= (p.Ala233=) c.320-5514A= (n.320-5514A=) c.663A= (p.Ala221=) c.132A= (p.Ala44=) c.688A= (n.688A=) c.-208A= (n.-208A=) c.729A= (p.Ala243=) c.574-76A= (n.574-76A=) c.475-76A= (n.475-76A=) n.791A= n.786A= c.693A= (p.Ala231=) c.600A= (p.Ala200=) n.802A= | |
| 22 | g.28725000G>A | CA196768 | CHEK2 | c.569C>T (p.Ala190Val) c.*549C>T (n.*549C>T) c.445-77C>T (n.445-77C>T) c.-95C>T (n.-95C>T) c.-71-5515C>T (n.-71-5515C>T) c.698C>T (p.Ala233Val) c.320-5515C>T (n.320-5515C>T) c.662C>T (p.Ala221Val) c.131C>T (p.Ala44Val) c.687C>T (n.687C>T) c.-209C>T (n.-209C>T) c.728C>T (p.Ala243Val) c.574-77C>T (n.574-77C>T) c.475-77C>T (n.475-77C>T) n.790C>T n.785C>T c.692C>T (p.Ala231Val) c.599C>T (p.Ala200Val) n.801C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.28725000G>C | CA411107066 | CHEK2 | c.569C>G (p.Ala190Gly) c.*549C>G (n.*549C>G) c.445-77C>G (n.445-77C>G) c.-95C>G (n.-95C>G) c.-71-5515C>G (n.-71-5515C>G) c.698C>G (p.Ala233Gly) c.320-5515C>G (n.320-5515C>G) c.662C>G (p.Ala221Gly) c.131C>G (p.Ala44Gly) c.687C>G (n.687C>G) c.-209C>G (n.-209C>G) c.728C>G (p.Ala243Gly) c.574-77C>G (n.574-77C>G) c.475-77C>G (n.475-77C>G) n.790C>G n.785C>G c.692C>G (p.Ala231Gly) c.599C>G (p.Ala200Gly) n.801C>G | ClinVar dbSNP |
| 22 | g.28725000G= | CA2400252188 | CHEK2 | c.569C= (p.Ala190=) c.*549C= (n.*549C=) c.445-77C= (n.445-77C=) c.-95C= (n.-95C=) c.-71-5515C= (n.-71-5515C=) c.698C= (p.Ala233=) c.320-5515C= (n.320-5515C=) c.662C= (p.Ala221=) c.131C= (p.Ala44=) c.687C= (n.687C=) c.-209C= (n.-209C=) c.728C= (p.Ala243=) c.574-77C= (n.574-77C=) c.475-77C= (n.475-77C=) n.790C= n.785C= c.692C= (p.Ala231=) c.599C= (p.Ala200=) n.801C= | |
| 22 | g.28725000G>T | CA411107068 | CHEK2 | c.569C>A (p.Ala190Glu) c.*549C>A (n.*549C>A) c.445-77C>A (n.445-77C>A) c.-95C>A (n.-95C>A) c.-71-5515C>A (n.-71-5515C>A) c.698C>A (p.Ala233Glu) c.320-5515C>A (n.320-5515C>A) c.662C>A (p.Ala221Glu) c.131C>A (p.Ala44Glu) c.687C>A (n.687C>A) c.-209C>A (n.-209C>A) c.728C>A (p.Ala243Glu) c.574-77C>A (n.574-77C>A) c.475-77C>A (n.475-77C>A) n.790C>A n.785C>A c.692C>A (p.Ala231Glu) c.599C>A (p.Ala200Glu) n.801C>A | dbSNP |
| 22 | g.28725000_28725001insTCAATTTCAGAATTGTTATTCAAAGG | CA916084191 | CHEK2 | c.569_570insCTTTGAATAACAATTCTGAAATTGAC (p.Leu191PhefsTer3) c.*549_*550insCTTTGAATAACAATTCTGAAATTGAC (n.*549_*550insCTTTGAATAACAATTCTGAAATTGAC) c.445-77_445-76insCTTTGAATAACAATTCTGAAATTGAC (n.445-77_445-76insCTTTGAATAACAATTCTGAAATTGAC) c.-95_-94insCTTTGAATAACAATTCTGAAATTGAC (n.-95_-94insCTTTGAATAACAATTCTGAAATTGAC) c.-71-5515_-71-5514insCTTTGAATAACAATTCTGAAATTGAC (n.-71-5515_-71-5514insCTTTGAATAACAATTCTGAAATTGAC) c.698_699insCTTTGAATAACAATTCTGAAATTGAC (p.Leu234PhefsTer3) c.320-5515_320-5514insCTTTGAATAACAATTCTGAAATTGAC (n.320-5515_320-5514insCTTTGAATAACAATTCTGAAATTGAC) c.662_663insCTTTGAATAACAATTCTGAAATTGAC (p.Leu222PhefsTer3) c.131_132insCTTTGAATAACAATTCTGAAATTGAC (p.Leu45PhefsTer3) c.687_688insCTTTGAATAACAATTCTGAAATTGAC (n.687_688insCTTTGAATAACAATTCTGAAATTGAC) c.-209_-208insCTTTGAATAACAATTCTGAAATTGAC (n.-209_-208insCTTTGAATAACAATTCTGAAATTGAC) c.728_729insCTTTGAATAACAATTCTGAAATTGAC (p.Leu244PhefsTer3) c.574-77_574-76insCTTTGAATAACAATTCTGAAATTGAC (n.574-77_574-76insCTTTGAATAACAATTCTGAAATTGAC) c.475-77_475-76insCTTTGAATAACAATTCTGAAATTGAC (n.475-77_475-76insCTTTGAATAACAATTCTGAAATTGAC) n.790_791insCTTTGAATAACAATTCTGAAATTGAC n.785_786insCTTTGAATAACAATTCTGAAATTGAC c.692_693insCTTTGAATAACAATTCTGAAATTGAC (p.Leu232PhefsTer3) c.599_600insCTTTGAATAACAATTCTGAAATTGAC (p.Leu201PhefsTer3) n.801_802insCTTTGAATAACAATTCTGAAATTGAC | |
| 22 | g.28725000_28725001delinsCA | CA2580099414 | CHEK2 | c.568_569delinsTG (p.Ala190Ter) c.*548_*549delinsTG (n.*548_*549delinsTG) c.445-78_445-77delinsTG (n.445-78_445-77delinsTG) c.-96_-95delinsTG (n.-96_-95delinsTG) c.-71-5516_-71-5515delinsTG (n.-71-5516_-71-5515delinsTG) c.697_698delinsTG (p.Ala233Ter) c.320-5516_320-5515delinsTG (n.320-5516_320-5515delinsTG) c.661_662delinsTG (p.Ala221Ter) c.130_131delinsTG (p.Ala44Ter) c.686_687delinsTG (n.686_687delinsTG) c.-210_-209delinsTG (n.-210_-209delinsTG) c.727_728delinsTG (p.Ala243Ter) c.574-78_574-77delinsTG (n.574-78_574-77delinsTG) c.475-78_475-77delinsTG (n.475-78_475-77delinsTG) n.789_790delinsTG n.784_785delinsTG c.691_692delinsTG (p.Ala231Ter) c.598_599delinsTG (p.Ala200Ter) n.800_801delinsTG | ClinVar |
| 22 | g.28725000_28725001delinsGC | CA2400252189 | CHEK2 | c.568_569delinsGC (p.Ala190=) c.*548_*549delinsGC (n.*548_*549delinsGC) c.445-78_445-77delinsGC (n.445-78_445-77delinsGC) c.-96_-95delinsGC (n.-96_-95delinsGC) c.-71-5516_-71-5515delinsGC (n.-71-5516_-71-5515delinsGC) c.697_698delinsGC (p.Ala233=) c.320-5516_320-5515delinsGC (n.320-5516_320-5515delinsGC) c.661_662delinsGC (p.Ala221=) c.130_131delinsGC (p.Ala44=) c.686_687delinsGC (n.686_687delinsGC) c.-210_-209delinsGC (n.-210_-209delinsGC) c.727_728delinsGC (p.Ala243=) c.574-78_574-77delinsGC (n.574-78_574-77delinsGC) c.475-78_475-77delinsGC (n.475-78_475-77delinsGC) n.789_790delinsGC n.784_785delinsGC c.691_692delinsGC (p.Ala231=) c.598_599delinsGC (p.Ala200=) n.800_801delinsGC | |
| 22 | g.28725000_28725001delinsTT | CA915952734 | CHEK2 | c.568_569delinsAA (p.Ala190Lys) c.*548_*549delinsAA (n.*548_*549delinsAA) c.445-78_445-77delinsAA (n.445-78_445-77delinsAA) c.-96_-95delinsAA (n.-96_-95delinsAA) c.-71-5516_-71-5515delinsAA (n.-71-5516_-71-5515delinsAA) c.697_698delinsAA (p.Ala233Lys) c.320-5516_320-5515delinsAA (n.320-5516_320-5515delinsAA) c.661_662delinsAA (p.Ala221Lys) c.130_131delinsAA (p.Ala44Lys) c.686_687delinsAA (n.686_687delinsAA) c.-210_-209delinsAA (n.-210_-209delinsAA) c.727_728delinsAA (p.Ala243Lys) c.574-78_574-77delinsAA (n.574-78_574-77delinsAA) c.475-78_475-77delinsAA (n.475-78_475-77delinsAA) n.789_790delinsAA n.784_785delinsAA c.691_692delinsAA (p.Ala231Lys) c.598_599delinsAA (p.Ala200Lys) n.800_801delinsAA | ClinVar dbSNP |
| 22 | g.28725001C>A | CA411107071 | CHEK2 | c.568G>T (p.Ala190Ser) c.*548G>T (n.*548G>T) c.445-78G>T (n.445-78G>T) c.-96G>T (n.-96G>T) c.-71-5516G>T (n.-71-5516G>T) c.697G>T (p.Ala233Ser) c.320-5516G>T (n.320-5516G>T) c.661G>T (p.Ala221Ser) c.130G>T (p.Ala44Ser) c.686G>T (n.686G>T) c.-210G>T (n.-210G>T) c.727G>T (p.Ala243Ser) c.574-78G>T (n.574-78G>T) c.475-78G>T (n.475-78G>T) n.789G>T n.784G>T c.691G>T (p.Ala231Ser) c.598G>T (p.Ala200Ser) n.800G>T | dbSNP |
| 22 | g.28725001C= | CA2400252190 | CHEK2 | c.568G= (p.Ala190=) c.*548G= (n.*548G=) c.445-78G= (n.445-78G=) c.-96G= (n.-96G=) c.-71-5516G= (n.-71-5516G=) c.697G= (p.Ala233=) c.320-5516G= (n.320-5516G=) c.661G= (p.Ala221=) c.130G= (p.Ala44=) c.686G= (n.686G=) c.-210G= (n.-210G=) c.727G= (p.Ala243=) c.574-78G= (n.574-78G=) c.475-78G= (n.475-78G=) n.789G= n.784G= c.691G= (p.Ala231=) c.598G= (p.Ala200=) n.800G= | |
| 22 | g.28725001C>G | CA411107073 | CHEK2 | c.568G>C (p.Ala190Pro) c.*548G>C (n.*548G>C) c.445-78G>C (n.445-78G>C) c.-96G>C (n.-96G>C) c.-71-5516G>C (n.-71-5516G>C) c.697G>C (p.Ala233Pro) c.320-5516G>C (n.320-5516G>C) c.661G>C (p.Ala221Pro) c.130G>C (p.Ala44Pro) c.686G>C (n.686G>C) c.-210G>C (n.-210G>C) c.727G>C (p.Ala243Pro) c.574-78G>C (n.574-78G>C) c.475-78G>C (n.475-78G>C) n.789G>C n.784G>C c.691G>C (p.Ala231Pro) c.598G>C (p.Ala200Pro) n.800G>C | dbSNP |
| 22 | g.28725001C>T | CA10167981 | CHEK2 | c.568G>A (p.Ala190Thr) c.*548G>A (n.*548G>A) c.445-78G>A (n.445-78G>A) c.-96G>A (n.-96G>A) c.-71-5516G>A (n.-71-5516G>A) c.697G>A (p.Ala233Thr) c.320-5516G>A (n.320-5516G>A) c.661G>A (p.Ala221Thr) c.130G>A (p.Ala44Thr) c.686G>A (n.686G>A) c.-210G>A (n.-210G>A) c.727G>A (p.Ala243Thr) c.574-78G>A (n.574-78G>A) c.475-78G>A (n.475-78G>A) n.789G>A n.784G>A c.691G>A (p.Ala231Thr) c.598G>A (p.Ala200Thr) n.800G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.28725025_28725026insTCAATTTCAGAATTGTTATTCAAAGG | CA915952735 | CHEK2 | c.568_569insACCTTTGAATAACAATTCTGAAATTG (p.Ala190AspfsTer3) c.*548_*549insACCTTTGAATAACAATTCTGAAATTG (n.*548_*549insACCTTTGAATAACAATTCTGAAATTG) c.445-78_445-77insACCTTTGAATAACAATTCTGAAATTG (n.445-78_445-77insACCTTTGAATAACAATTCTGAAATTG) c.-96_-95insACCTTTGAATAACAATTCTGAAATTG (n.-96_-95insACCTTTGAATAACAATTCTGAAATTG) c.-71-5516_-71-5515insACCTTTGAATAACAATTCTGAAATTG (n.-71-5516_-71-5515insACCTTTGAATAACAATTCTGAAATTG) c.697_698insACCTTTGAATAACAATTCTGAAATTG (p.Ala233AspfsTer3) c.320-5516_320-5515insACCTTTGAATAACAATTCTGAAATTG (n.320-5516_320-5515insACCTTTGAATAACAATTCTGAAATTG) c.661_662insACCTTTGAATAACAATTCTGAAATTG (p.Ala221AspfsTer3) c.130_131insACCTTTGAATAACAATTCTGAAATTG (p.Ala44AspfsTer3) c.686_687insACCTTTGAATAACAATTCTGAAATTG (n.686_687insACCTTTGAATAACAATTCTGAAATTG) c.-210_-209insACCTTTGAATAACAATTCTGAAATTG (n.-210_-209insACCTTTGAATAACAATTCTGAAATTG) c.727_728insACCTTTGAATAACAATTCTGAAATTG (p.Ala243AspfsTer3) c.574-78_574-77insACCTTTGAATAACAATTCTGAAATTG (n.574-78_574-77insACCTTTGAATAACAATTCTGAAATTG) c.475-78_475-77insACCTTTGAATAACAATTCTGAAATTG (n.475-78_475-77insACCTTTGAATAACAATTCTGAAATTG) n.789_790insACCTTTGAATAACAATTCTGAAATTG n.784_785insACCTTTGAATAACAATTCTGAAATTG c.691_692insACCTTTGAATAACAATTCTGAAATTG (p.Ala231AspfsTer3) c.598_599insACCTTTGAATAACAATTCTGAAATTG (p.Ala200AspfsTer3) n.800_801insACCTTTGAATAACAATTCTGAAATTG | ClinVar dbSNP |
| 22 | g.28725002A= | CA2400252191 | CHEK2 | c.567T= (p.Ile189=) c.*547T= (n.*547T=) c.445-79T= (n.445-79T=) c.-97T= (n.-97T=) c.-71-5517T= (n.-71-5517T=) c.696T= (p.Ile232=) c.320-5517T= (n.320-5517T=) c.660T= (p.Ile220=) c.129T= (p.Ile43=) c.685T= (n.685T=) c.-211T= (n.-211T=) c.726T= (p.Ile242=) c.574-79T= (n.574-79T=) c.475-79T= (n.475-79T=) n.788T= n.783T= c.690T= (p.Ile230=) c.597T= (p.Ile199=) n.799T= | |
| 22 | g.28725002A>C | CA411107077 | CHEK2 | c.567T>G (p.Ile189Met) c.*547T>G (n.*547T>G) c.445-79T>G (n.445-79T>G) c.-97T>G (n.-97T>G) c.-71-5517T>G (n.-71-5517T>G) c.696T>G (p.Ile232Met) c.320-5517T>G (n.320-5517T>G) c.660T>G (p.Ile220Met) c.129T>G (p.Ile43Met) c.685T>G (n.685T>G) c.-211T>G (n.-211T>G) c.726T>G (p.Ile242Met) c.574-79T>G (n.574-79T>G) c.475-79T>G (n.475-79T>G) n.788T>G n.783T>G c.690T>G (p.Ile230Met) c.597T>G (p.Ile199Met) n.799T>G | gnomAD v4 |
| 22 | g.28725002A>G | CA514168717 | CHEK2 | c.567T>C (p.Ile189=) c.*547T>C (n.*547T>C) c.445-79T>C (n.445-79T>C) c.-97T>C (n.-97T>C) c.-71-5517T>C (n.-71-5517T>C) c.696T>C (p.Ile232=) c.320-5517T>C (n.320-5517T>C) c.660T>C (p.Ile220=) c.129T>C (p.Ile43=) c.685T>C (n.685T>C) c.-211T>C (n.-211T>C) c.726T>C (p.Ile242=) c.574-79T>C (n.574-79T>C) c.475-79T>C (n.475-79T>C) n.788T>C n.783T>C c.690T>C (p.Ile230=) c.597T>C (p.Ile199=) n.799T>C | ClinVar dbSNP |
| 22 | g.28725002A>T | CA514168718 | CHEK2 | c.567T>A (p.Ile189=) c.*547T>A (n.*547T>A) c.445-79T>A (n.445-79T>A) c.-97T>A (n.-97T>A) c.-71-5517T>A (n.-71-5517T>A) c.696T>A (p.Ile232=) c.320-5517T>A (n.320-5517T>A) c.660T>A (p.Ile220=) c.129T>A (p.Ile43=) c.685T>A (n.685T>A) c.-211T>A (n.-211T>A) c.726T>A (p.Ile242=) c.574-79T>A (n.574-79T>A) c.475-79T>A (n.475-79T>A) n.788T>A n.783T>A c.690T>A (p.Ile230=) c.597T>A (p.Ile199=) n.799T>A | dbSNP |
| 22 | g.28725003A= | CA2400252192 | CHEK2 | c.566T= (p.Ile189=) c.*546T= (n.*546T=) c.445-80T= (n.445-80T=) c.-98T= (n.-98T=) c.-71-5518T= (n.-71-5518T=) c.695T= (p.Ile232=) c.320-5518T= (n.320-5518T=) c.659T= (p.Ile220=) c.128T= (p.Ile43=) c.684T= (n.684T=) c.-212T= (n.-212T=) c.725T= (p.Ile242=) c.574-80T= (n.574-80T=) c.475-80T= (n.475-80T=) n.787T= n.782T= c.689T= (p.Ile230=) c.596T= (p.Ile199=) n.798T= | |
| 22 | g.28725003A>C | CA411107079 | CHEK2 | c.566T>G (p.Ile189Ser) c.*546T>G (n.*546T>G) c.445-80T>G (n.445-80T>G) c.-98T>G (n.-98T>G) c.-71-5518T>G (n.-71-5518T>G) c.695T>G (p.Ile232Ser) c.320-5518T>G (n.320-5518T>G) c.659T>G (p.Ile220Ser) c.128T>G (p.Ile43Ser) c.684T>G (n.684T>G) c.-212T>G (n.-212T>G) c.725T>G (p.Ile242Ser) c.574-80T>G (n.574-80T>G) c.475-80T>G (n.475-80T>G) n.787T>G n.782T>G c.689T>G (p.Ile230Ser) c.596T>G (p.Ile199Ser) n.798T>G | ClinVar dbSNP |
| 22 | g.28725003A>G | CA411107081 | CHEK2 | c.566T>C (p.Ile189Thr) c.*546T>C (n.*546T>C) c.445-80T>C (n.445-80T>C) c.-98T>C (n.-98T>C) c.-71-5518T>C (n.-71-5518T>C) c.695T>C (p.Ile232Thr) c.320-5518T>C (n.320-5518T>C) c.659T>C (p.Ile220Thr) c.128T>C (p.Ile43Thr) c.684T>C (n.684T>C) c.-212T>C (n.-212T>C) c.725T>C (p.Ile242Thr) c.574-80T>C (n.574-80T>C) c.475-80T>C (n.475-80T>C) n.787T>C n.782T>C c.689T>C (p.Ile230Thr) c.596T>C (p.Ile199Thr) n.798T>C | ClinVar dbSNP gnomAD v2 |
| 22 | g.28725003A>T | CA411107085 | CHEK2 | c.566T>A (p.Ile189Asn) c.*546T>A (n.*546T>A) c.445-80T>A (n.445-80T>A) c.-98T>A (n.-98T>A) c.-71-5518T>A (n.-71-5518T>A) c.695T>A (p.Ile232Asn) c.320-5518T>A (n.320-5518T>A) c.659T>A (p.Ile220Asn) c.128T>A (p.Ile43Asn) c.684T>A (n.684T>A) c.-212T>A (n.-212T>A) c.725T>A (p.Ile242Asn) c.574-80T>A (n.574-80T>A) c.475-80T>A (n.475-80T>A) n.787T>A n.782T>A c.689T>A (p.Ile230Asn) c.596T>A (p.Ile199Asn) n.798T>A | |
| 22 | g.28725004T>A | CA411107090 | CHEK2 | c.565A>T (p.Ile189Phe) c.*545A>T (n.*545A>T) c.445-81A>T (n.445-81A>T) c.-99A>T (n.-99A>T) c.-71-5519A>T (n.-71-5519A>T) c.694A>T (p.Ile232Phe) c.320-5519A>T (n.320-5519A>T) c.658A>T (p.Ile220Phe) c.127A>T (p.Ile43Phe) c.683A>T (n.683A>T) c.-213A>T (n.-213A>T) c.724A>T (p.Ile242Phe) c.574-81A>T (n.574-81A>T) c.475-81A>T (n.475-81A>T) n.786A>T n.781A>T c.688A>T (p.Ile230Phe) c.595A>T (p.Ile199Phe) n.797A>T | ClinVar dbSNP |
| 22 | g.28725004T>C | CA288319 | CHEK2 | c.565A>G (p.Ile189Val) c.*545A>G (n.*545A>G) c.445-81A>G (n.445-81A>G) c.-99A>G (n.-99A>G) c.-71-5519A>G (n.-71-5519A>G) c.694A>G (p.Ile232Val) c.320-5519A>G (n.320-5519A>G) c.658A>G (p.Ile220Val) c.127A>G (p.Ile43Val) c.683A>G (n.683A>G) c.-213A>G (n.-213A>G) c.724A>G (p.Ile242Val) c.574-81A>G (n.574-81A>G) c.475-81A>G (n.475-81A>G) n.786A>G n.781A>G c.688A>G (p.Ile230Val) c.595A>G (p.Ile199Val) n.797A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28725004T>G | CA411107093 | CHEK2 | c.565A>C (p.Ile189Leu) c.*545A>C (n.*545A>C) c.445-81A>C (n.445-81A>C) c.-99A>C (n.-99A>C) c.-71-5519A>C (n.-71-5519A>C) c.694A>C (p.Ile232Leu) c.320-5519A>C (n.320-5519A>C) c.658A>C (p.Ile220Leu) c.127A>C (p.Ile43Leu) c.683A>C (n.683A>C) c.-213A>C (n.-213A>C) c.724A>C (p.Ile242Leu) c.574-81A>C (n.574-81A>C) c.475-81A>C (n.475-81A>C) n.786A>C n.781A>C c.688A>C (p.Ile230Leu) c.595A>C (p.Ile199Leu) n.797A>C | dbSNP |
| 22 | g.28725004T= | CA2400252193 | CHEK2 | c.565A= (p.Ile189=) c.*545A= (n.*545A=) c.445-81A= (n.445-81A=) c.-99A= (n.-99A=) c.-71-5519A= (n.-71-5519A=) c.694A= (p.Ile232=) c.320-5519A= (n.320-5519A=) c.658A= (p.Ile220=) c.127A= (p.Ile43=) c.683A= (n.683A=) c.-213A= (n.-213A=) c.724A= (p.Ile242=) c.574-81A= (n.574-81A=) c.475-81A= (n.475-81A=) n.786A= n.781A= c.688A= (p.Ile230=) c.595A= (p.Ile199=) n.797A= | |
| 22 | g.28725005T>A | CA411107106 | CHEK2 | c.564A>T (p.Glu188Asp) c.*544A>T (n.*544A>T) c.445-82A>T (n.445-82A>T) c.-100A>T (n.-100A>T) c.-71-5520A>T (n.-71-5520A>T) c.693A>T (p.Glu231Asp) c.320-5520A>T (n.320-5520A>T) c.657A>T (p.Glu219Asp) c.126A>T (p.Glu42Asp) c.682A>T (n.682A>T) c.-214A>T (n.-214A>T) c.723A>T (p.Glu241Asp) c.574-82A>T (n.574-82A>T) c.475-82A>T (n.475-82A>T) n.785A>T n.780A>T c.687A>T (p.Glu229Asp) c.594A>T (p.Glu198Asp) n.796A>T | dbSNP COSMIC |
| 22 | g.28725005T>C | CA514168719 | CHEK2 | c.564A>G (p.Glu188=) c.*544A>G (n.*544A>G) c.445-82A>G (n.445-82A>G) c.-100A>G (n.-100A>G) c.-71-5520A>G (n.-71-5520A>G) c.693A>G (p.Glu231=) c.320-5520A>G (n.320-5520A>G) c.657A>G (p.Glu219=) c.126A>G (p.Glu42=) c.682A>G (n.682A>G) c.-214A>G (n.-214A>G) c.723A>G (p.Glu241=) c.574-82A>G (n.574-82A>G) c.475-82A>G (n.475-82A>G) n.785A>G n.780A>G c.687A>G (p.Glu229=) c.594A>G (p.Glu198=) n.796A>G | dbSNP |
| 22 | g.28725005T>G | CA411107108 | CHEK2 | c.564A>C (p.Glu188Asp) c.*544A>C (n.*544A>C) c.445-82A>C (n.445-82A>C) c.-100A>C (n.-100A>C) c.-71-5520A>C (n.-71-5520A>C) c.693A>C (p.Glu231Asp) c.320-5520A>C (n.320-5520A>C) c.657A>C (p.Glu219Asp) c.126A>C (p.Glu42Asp) c.682A>C (n.682A>C) c.-214A>C (n.-214A>C) c.723A>C (p.Glu241Asp) c.574-82A>C (n.574-82A>C) c.475-82A>C (n.475-82A>C) n.785A>C n.780A>C c.687A>C (p.Glu229Asp) c.594A>C (p.Glu198Asp) n.796A>C | |
| 22 | g.28725006T>A | CA411107111 | CHEK2 | c.563A>T (p.Glu188Val) c.*543A>T (n.*543A>T) c.445-83A>T (n.445-83A>T) c.-101A>T (n.-101A>T) c.-71-5521A>T (n.-71-5521A>T) c.692A>T (p.Glu231Val) c.320-5521A>T (n.320-5521A>T) c.656A>T (p.Glu219Val) c.125A>T (p.Glu42Val) c.681A>T (n.681A>T) c.-215A>T (n.-215A>T) c.722A>T (p.Glu241Val) c.574-83A>T (n.574-83A>T) c.475-83A>T (n.475-83A>T) n.784A>T n.779A>T c.686A>T (p.Glu229Val) c.593A>T (p.Glu198Val) n.795A>T | dbSNP |
| 22 | g.28725006T>C | CA10167982 | CHEK2 | c.563A>G (p.Glu188Gly) c.*543A>G (n.*543A>G) c.445-83A>G (n.445-83A>G) c.-101A>G (n.-101A>G) c.-71-5521A>G (n.-71-5521A>G) c.692A>G (p.Glu231Gly) c.320-5521A>G (n.320-5521A>G) c.656A>G (p.Glu219Gly) c.125A>G (p.Glu42Gly) c.681A>G (n.681A>G) c.-215A>G (n.-215A>G) c.722A>G (p.Glu241Gly) c.574-83A>G (n.574-83A>G) c.475-83A>G (n.475-83A>G) n.784A>G n.779A>G c.686A>G (p.Glu229Gly) c.593A>G (p.Glu198Gly) n.795A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.28725006T>G | CA411107114 | CHEK2 | c.563A>C (p.Glu188Ala) c.*543A>C (n.*543A>C) c.445-83A>C (n.445-83A>C) c.-101A>C (n.-101A>C) c.-71-5521A>C (n.-71-5521A>C) c.692A>C (p.Glu231Ala) c.320-5521A>C (n.320-5521A>C) c.656A>C (p.Glu219Ala) c.125A>C (p.Glu42Ala) c.681A>C (n.681A>C) c.-215A>C (n.-215A>C) c.722A>C (p.Glu241Ala) c.574-83A>C (n.574-83A>C) c.475-83A>C (n.475-83A>C) n.784A>C n.779A>C c.686A>C (p.Glu229Ala) c.593A>C (p.Glu198Ala) n.795A>C | |
| 22 | g.28725006T= | CA2400252194 | CHEK2 | c.563A= (p.Glu188=) c.*543A= (n.*543A=) c.445-83A= (n.445-83A=) c.-101A= (n.-101A=) c.-71-5521A= (n.-71-5521A=) c.692A= (p.Glu231=) c.320-5521A= (n.320-5521A=) c.656A= (p.Glu219=) c.125A= (p.Glu42=) c.681A= (n.681A=) c.-215A= (n.-215A=) c.722A= (p.Glu241=) c.574-83A= (n.574-83A=) c.475-83A= (n.475-83A=) n.784A= n.779A= c.686A= (p.Glu229=) c.593A= (p.Glu198=) n.795A= | |
| 22 | g.28725007C>A | CA411107115 | CHEK2 | c.562G>T (p.Glu188Ter) c.*542G>T (n.*542G>T) c.445-84G>T (n.445-84G>T) c.-102G>T (n.-102G>T) c.-71-5522G>T (n.-71-5522G>T) c.691G>T (p.Glu231Ter) c.320-5522G>T (n.320-5522G>T) c.655G>T (p.Glu219Ter) c.124G>T (p.Glu42Ter) c.680G>T (n.680G>T) c.-216G>T (n.-216G>T) c.721G>T (p.Glu241Ter) c.574-84G>T (n.574-84G>T) c.475-84G>T (n.475-84G>T) n.783G>T n.778G>T c.685G>T (p.Glu229Ter) c.592G>T (p.Glu198Ter) n.794G>T | dbSNP |
| 22 | g.28725007C= | CA2400252195 | CHEK2 | c.562G= (p.Glu188=) c.*542G= (n.*542G=) c.445-84G= (n.445-84G=) c.-102G= (n.-102G=) c.-71-5522G= (n.-71-5522G=) c.691G= (p.Glu231=) c.320-5522G= (n.320-5522G=) c.655G= (p.Glu219=) c.124G= (p.Glu42=) c.680G= (n.680G=) c.-216G= (n.-216G=) c.721G= (p.Glu241=) c.574-84G= (n.574-84G=) c.475-84G= (n.475-84G=) n.783G= n.778G= c.685G= (p.Glu229=) c.592G= (p.Glu198=) n.794G= | |
| 22 | g.28725007C>G | CA411107116 | CHEK2 | c.562G>C (p.Glu188Gln) c.*542G>C (n.*542G>C) c.445-84G>C (n.445-84G>C) c.-102G>C (n.-102G>C) c.-71-5522G>C (n.-71-5522G>C) c.691G>C (p.Glu231Gln) c.320-5522G>C (n.320-5522G>C) c.655G>C (p.Glu219Gln) c.124G>C (p.Glu42Gln) c.680G>C (n.680G>C) c.-216G>C (n.-216G>C) c.721G>C (p.Glu241Gln) c.574-84G>C (n.574-84G>C) c.475-84G>C (n.475-84G>C) n.783G>C n.778G>C c.685G>C (p.Glu229Gln) c.592G>C (p.Glu198Gln) n.794G>C | dbSNP |
| 22 | g.28725007C>T | CA411107117 | CHEK2 | c.562G>A (p.Glu188Lys) c.*542G>A (n.*542G>A) c.445-84G>A (n.445-84G>A) c.-102G>A (n.-102G>A) c.-71-5522G>A (n.-71-5522G>A) c.691G>A (p.Glu231Lys) c.320-5522G>A (n.320-5522G>A) c.655G>A (p.Glu219Lys) c.124G>A (p.Glu42Lys) c.680G>A (n.680G>A) c.-216G>A (n.-216G>A) c.721G>A (p.Glu241Lys) c.574-84G>A (n.574-84G>A) c.475-84G>A (n.475-84G>A) n.783G>A n.778G>A c.685G>A (p.Glu229Lys) c.592G>A (p.Glu198Lys) n.794G>A | ClinVar dbSNP |
| 22 | g.28725008del | CA2739265658 | CHEK2 | c.561del (p.Glu188LysfsTer6) c.*541del (n.*541del) c.445-85del (n.445-85del) c.-103del (n.-103del) c.-71-5523del (n.-71-5523del) c.690del (p.Glu231LysfsTer6) c.320-5523del (n.320-5523del) c.654del (p.Glu219LysfsTer6) c.123del (p.Glu42LysfsTer6) c.679del (n.679del) c.-217del (n.-217del) c.720del (p.Glu241LysfsTer6) c.574-85del (n.574-85del) c.475-85del (n.475-85del) n.782del n.777del c.684del (p.Glu229LysfsTer6) c.591del (p.Glu198LysfsTer6) n.793del | ClinVar |