Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214727991_214728680delinsATGTACAGAATAAAAATATGTACCATGAGCCTAGTGTTGATTTTTACCACACACACAAAAAAACCAATGTTAATGATTAAATCACAATTTCCTGATGATATACAAGATAAAAAACAGGGATGAAAGTGTAGAAACACACAACAAAGTAAATTATTAAGAAAAGAAATGAACACAATATAGGATAAAGACAATTGCAGATAGGAGAATTTAACACCTATGGTGGCACATTTAGACCAAATACTCTTTTTTCAATAAAGCCAAAATAAATTGTTTGATAATATTCTGTTTACTAAAAAAAAAAAAAAAAAAAAGGCAAGTTTTTTCACTGGTGGCAGGTATGGAGAATATTAAAAGACTCAAACAGTAATGATACCACTTGTCTATTTAACCAAGATTCTGGTGTCCTCATTAATCTTTGATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGC | CA1327045077 | BARD1 | c.2330_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2330_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser777=]) c.920_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.920_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser307=]) c.977_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.977_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser326=]) c.2273_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2273_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser758=]) c.791_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.791_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser264=]) n.2323_3012delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.2266_2955delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.1522_2211delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT c.2276_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2276_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser759=]) c.2429_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT (n.[c.2429_*685delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT;Ser810=]) n.2295_2984delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.2238_2927delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT n.1494_2183delinsGCTGAATATTATACCAGATGAACATTTCAAATTGAATTTGCACGGTTTGTGAGAGCCCAGTCATTGTACTGTTTTTAATGTTCACATTTTTACAAATAGGTAGAGTCATTCATATTTGTCTTTGAATCAAAAAAAAAAAAAAAGTCTAATGCCAGATTAGGAATTCATGTTATGTTTACCATTTAGAAGCTGGGATTGCTTTTAAAGGTTTTTCTTTTTAAAATTGGCATGTTTTTGATTTATCATGTCTTTCTATTCAGATTATTGGGTATCAAAGATTAATGAGGACACCAGAATCTTGGTTAAATAGACAAGTGGTATCATTACTGTTTGAGTCTTTTAATATTCTCCATACCTGCCACCAGTGAAAAAACTTGCCTTTTTTTTTTTTTTTTTTTTAGTAAACAGAATATTATCAAACAATTTATTTTGGCTTTATTGAAAAAAGAGTATTTGGTCTAAATGTGCCACCATAGGTGTTAAATTCTCCTATCTGCAATTGTCTTTATCCTATATTGTGTTCATTTCTTTTCTTAATAATTTACTTTGTTGTGTGTTTCTACACTTTCATCCCTGTTTTTTATCTTGTATATCATCAGGAAATTGTGATTTAATCATTAACATTGGTTTTTTTGTGTGTGTGGTAAAAATCAACACTAGGCTCATGGTACATATTTTTATTCTGTACAT | |
2 | g.214727995_214728683del | CA1139657666 | BARD1 | c.2330_*684del (n.[c.2330_*684del;Ser777IlefsTer4]) c.920_*684del (n.[c.920_*684del;Ser307IlefsTer4]) c.977_*684del (n.[c.977_*684del;Ser326IlefsTer4]) c.2273_*684del (n.[c.2273_*684del;Ser758IlefsTer4]) c.791_*684del (n.[c.791_*684del;Ser264IlefsTer4]) n.2323_3011del n.2266_2954del n.1522_2210del c.2276_*684del (n.[c.2276_*684del;Ser759IlefsTer4]) c.2429_*684del (n.[c.2429_*684del;Ser810IlefsTer4]) n.2295_2983del n.2238_2926del n.1494_2182del | ClinVar dbSNP |
2 | g.214728516_214728547del | CA2662969609 | BARD1 | c.*129_*160del (n.*129_*160del) n.798_829del n.2456_2487del n.2399_2430del n.1655_1686del n.2428_2459del n.2371_2402del n.1627_1658del | gnomAD v4 |
2 | g.214728552dup | CA10612770 | BARD1 | c.*138dup (n.*138dup) n.807dup n.2465dup n.2408dup n.1664dup n.2437dup n.2380dup n.1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728551_214728552dup | CA64792505 | BARD1 | c.*137_*138dup (n.*137_*138dup) n.806_807dup n.2464_2465dup n.2407_2408dup n.1663_1664dup n.2436_2437dup n.2379_2380dup n.1635_1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728550_214728552dup | CA64792510 | BARD1 | c.*136_*138dup (n.*136_*138dup) n.805_807dup n.2463_2465dup n.2406_2408dup n.1662_1664dup n.2435_2437dup n.2378_2380dup n.1634_1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728549_214728552dup | CA539534871 | BARD1 | c.*135_*138dup (n.*135_*138dup) n.804_807dup n.2462_2465dup n.2405_2408dup n.1661_1664dup n.2434_2437dup n.2377_2380dup n.1633_1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728548_214728552dup | CA1042200907 | BARD1 | c.*134_*138dup (n.*134_*138dup) n.803_807dup n.2461_2465dup n.2404_2408dup n.1660_1664dup n.2433_2437dup n.2376_2380dup n.1632_1636dup | gnomAD v3 gnomAD v4 |
2 | g.214728547_214728552dup | CA2662969694 | BARD1 | c.*133_*138dup (n.*133_*138dup) n.802_807dup n.2460_2465dup n.2403_2408dup n.1659_1664dup n.2432_2437dup n.2375_2380dup n.1631_1636dup | gnomAD v4 |
2 | g.214728546_214728552dup | CA1042200888 | BARD1 | c.*132_*138dup (n.*132_*138dup) n.801_807dup n.2459_2465dup n.2402_2408dup n.1658_1664dup n.2431_2437dup n.2374_2380dup n.1630_1636dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728545_214728552dup | CA1042200884 | BARD1 | c.*131_*138dup (n.*131_*138dup) n.800_807dup n.2458_2465dup n.2401_2408dup n.1657_1664dup n.2430_2437dup n.2373_2380dup n.1629_1636dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728552del | CA64792515 | BARD1 | c.*138del (n.*138del) c.615del n.807del n.2465del n.2408del n.1664del n.2838del n.2437del n.2380del n.1636del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728551_214728552del | CA431137485 | BARD1 | c.*137_*138del (n.*137_*138del) c.614_615del n.806_807del n.2464_2465del n.2407_2408del n.1663_1664del n.2837_2838del n.2436_2437del n.2379_2380del n.1635_1636del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728550_214728552del | CA915940755 | BARD1 | c.*136_*138del (n.*136_*138del) c.613_615del n.805_807del n.2463_2465del n.2406_2408del n.1662_1664del n.2836_2838del n.2435_2437del n.2378_2380del n.1634_1636del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728549_214728552del | CA1042200878 | BARD1 | c.*135_*138del (n.*135_*138del) c.612_615del n.804_807del n.2462_2465del n.2405_2408del n.1661_1664del n.2835_2838del n.2434_2437del n.2377_2380del n.1633_1636del | gnomAD v3 gnomAD v4 |
2 | g.214728548_214728552del | CA2662969689 | BARD1 | c.*134_*138del (n.*134_*138del) c.611_615del n.803_807del n.2461_2465del n.2404_2408del n.1660_1664del n.2834_2838del n.2433_2437del n.2376_2380del n.1632_1636del | gnomAD v4 |
2 | g.214728547_214728552del | CA2662969687 | BARD1 | c.*133_*138del (n.*133_*138del) c.610_615del n.802_807del n.2460_2465del n.2403_2408del n.1659_1664del n.2833_2838del n.2432_2437del n.2375_2380del n.1631_1636del | gnomAD v4 |
2 | g.214728547T>C | CA2546755399 | BARD1 | c.*129A>G (n.*129A>G) c.606A>G n.798A>G n.2456A>G n.2399A>G n.1655A>G n.2829A>G n.2428A>G n.2371A>G n.1627A>G | |
2 | g.214728549_214728550insAT | CA2662969732 | BARD1 | c.*127_*128insTA (n.*127_*128insTA) c.604_605insTA n.796_797insTA n.2454_2455insTA n.2397_2398insTA n.1653_1654insTA n.2827_2828insTA n.2426_2427insTA n.2369_2370insTA n.1625_1626insTA | gnomAD v4 |
2 | g.214728549_214728550insCT | CA2662969733 | BARD1 | c.*127_*128insGA (n.*127_*128insGA) c.604_605insGA n.796_797insGA n.2454_2455insGA n.2397_2398insGA n.1653_1654insGA n.2827_2828insGA n.2426_2427insGA n.2369_2370insGA n.1625_1626insGA | gnomAD v4 |
2 | g.214728552T>A | CA2662969736 | BARD1 | c.*124A>T (n.*124A>T) c.601A>T n.793A>T n.2451A>T n.2394A>T n.1650A>T n.2824A>T n.2423A>T n.2366A>T n.1622A>T | gnomAD v4 |
2 | g.214728552T= | CA1327045374 | BARD1 | c.*124A= (n.*124A=) c.601A= n.793A= n.2451A= n.2394A= n.1650A= n.2824A= n.2423A= n.2366A= n.1622A= | |
2 | g.214728552_214728553insTGATTCAAAT | CA2662969739 | BARD1 | c.*124_*125insTTTGAATCAA (n.*124_*125insTTTGAATCAA) c.601_602insTTTGAATCAA n.793_794insTTTGAATCAA n.2451_2452insTTTGAATCAA n.2394_2395insTTTGAATCAA n.1650_1651insTTTGAATCAA n.2824_2825insTTTGAATCAA n.2423_2424insTTTGAATCAA n.2366_2367insTTTGAATCAA n.1622_1623insTTTGAATCAA | gnomAD v4 |
2 | g.214728552_214728553insTGATTTAAAGACAAATATGAAT | CA2662969738 | BARD1 | c.*124_*125insTTCATATTTGTCTTTAAATCAA (n.*124_*125insTTCATATTTGTCTTTAAATCAA) c.601_602insTTCATATTTGTCTTTAAATCAA n.793_794insTTCATATTTGTCTTTAAATCAA n.2451_2452insTTCATATTTGTCTTTAAATCAA n.2394_2395insTTCATATTTGTCTTTAAATCAA n.1650_1651insTTCATATTTGTCTTTAAATCAA n.2824_2825insTTCATATTTGTCTTTAAATCAA n.2423_2424insTTCATATTTGTCTTTAAATCAA n.2366_2367insTTCATATTTGTCTTTAAATCAA n.1622_1623insTTCATATTTGTCTTTAAATCAA | gnomAD v4 |
2 | g.214728552_214728553del | CA2662969737 | BARD1 | c.*123_*124del (n.*123_*124del) c.600_601del n.792_793del n.2450_2451del n.2393_2394del n.1649_1650del n.2823_2824del n.2422_2423del n.2365_2366del n.1621_1622del | gnomAD v4 |
2 | g.214728552_214728553delinsTG | CA1327045375 | BARD1 | c.*123_*124delinsCA (n.*123_*124delinsCA) c.600_601delinsCA n.792_793delinsCA n.2450_2451delinsCA n.2393_2394delinsCA n.1649_1650delinsCA n.2823_2824delinsCA n.2422_2423delinsCA n.2365_2366delinsCA n.1621_1622delinsCA | |
2 | g.214728552_214728554delinsTGA | CA1327045376 | BARD1 | c.*122_*124delinsTCA (n.*122_*124delinsTCA) c.599_601delinsTCA n.791_793delinsTCA n.2449_2451delinsTCA n.2392_2394delinsTCA n.1648_1650delinsTCA n.2822_2824delinsTCA n.2421_2423delinsTCA n.2364_2366delinsTCA n.1620_1622delinsTCA | |
2 | g.214728552_214728553insA | CA2662969745 | BARD1 | c.*123_*124insT (n.*123_*124insT) c.600_601insT n.792_793insT n.2450_2451insT n.2393_2394insT n.1649_1650insT n.2823_2824insT n.2422_2423insT n.2365_2366insT n.1621_1622insT | gnomAD v4 |
2 | g.214728552_214728553insTA | CA764557263 | BARD1 | c.*123_*124insTA (n.*123_*124insTA) c.600_601insTA n.792_793insTA n.2450_2451insTA n.2393_2394insTA n.1649_1650insTA n.2823_2824insTA n.2422_2423insTA n.2365_2366insTA n.1621_1622insTA | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728552_214728553insTTTATTCAAA | CA2662969746 | BARD1 | c.*123_*124insTTTGAATAAA (n.*123_*124insTTTGAATAAA) c.600_601insTTTGAATAAA n.792_793insTTTGAATAAA n.2450_2451insTTTGAATAAA n.2393_2394insTTTGAATAAA n.1649_1650insTTTGAATAAA n.2823_2824insTTTGAATAAA n.2422_2423insTTTGAATAAA n.2365_2366insTTTGAATAAA n.1621_1622insTTTGAATAAA | gnomAD v4 |
2 | g.214728552_214728553insTTTTTTTTAA | CA1042200922 | BARD1 | c.*123_*124insTTAAAAAAAA (n.*123_*124insTTAAAAAAAA) c.600_601insTTAAAAAAAA n.792_793insTTAAAAAAAA n.2450_2451insTTAAAAAAAA n.2393_2394insTTAAAAAAAA n.1649_1650insTTAAAAAAAA n.2823_2824insTTAAAAAAAA n.2422_2423insTTAAAAAAAA n.2365_2366insTTAAAAAAAA n.1621_1622insTTAAAAAAAA | gnomAD v3 gnomAD v4 |
2 | g.214728552_214728553insTTTTATTCAAA | CA2662969748 | BARD1 | c.*123_*124insTTTGAATAAAA (n.*123_*124insTTTGAATAAAA) c.600_601insTTTGAATAAAA n.792_793insTTTGAATAAAA n.2450_2451insTTTGAATAAAA n.2393_2394insTTTGAATAAAA n.1649_1650insTTTGAATAAAA n.2823_2824insTTTGAATAAAA n.2422_2423insTTTGAATAAAA n.2365_2366insTTTGAATAAAA n.1621_1622insTTTGAATAAAA | gnomAD v4 |
2 | g.214728553del | CA539534878 | BARD1 | c.*123del (n.*123del) c.600del n.792del n.2450del n.2393del n.1649del n.2823del n.2422del n.2365del n.1621del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553G>A | CA539534876 | BARD1 | c.*123C>T (n.*123C>T) c.600C>T n.792C>T n.2450C>T n.2393C>T n.1649C>T n.2823C>T n.2422C>T n.2365C>T n.1621C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553G>C | CA2662969751 | BARD1 | c.*123C>G (n.*123C>G) c.600C>G n.792C>G n.2450C>G n.2393C>G n.1649C>G n.2823C>G n.2422C>G n.2365C>G n.1621C>G | gnomAD v4 |
2 | g.214728553G= | CA1327045377 | BARD1 | c.*123C= (n.*123C=) c.600C= n.792C= n.2450C= n.2393C= n.1649C= n.2823C= n.2422C= n.2365C= n.1621C= | |
2 | g.214728553G>T | CA539534874 | BARD1 | c.*123C>A (n.*123C>A) c.600C>A n.792C>A n.2450C>A n.2393C>A n.1649C>A n.2823C>A n.2422C>A n.2365C>A n.1621C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553_214728554del | CA539534877 | BARD1 | c.*122_*123del (n.*122_*123del) c.599_600del n.791_792del n.2449_2450del n.2392_2393del n.1648_1649del n.2822_2823del n.2421_2422del n.2364_2365del n.1620_1621del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553_214728554insT | CA647580017 | BARD1 | c.*122_*123insA (n.*122_*123insA) c.599_600insA n.791_792insA n.2449_2450insA n.2392_2393insA n.1648_1649insA n.2822_2823insA n.2421_2422insA n.2364_2365insA n.1620_1621insA | COSMIC |
2 | g.214728554del | CA1042200941 | BARD1 | c.*122del (n.*122del) c.599del n.791del n.2449del n.2392del n.1648del n.2822del n.2421del n.2364del n.1620del | gnomAD v3 gnomAD v4 |
2 | g.214728554A= | CA1327045378 | BARD1 | c.*122T= (n.*122T=) c.599T= n.791T= n.2449T= n.2392T= n.1648T= n.2822T= n.2421T= n.2364T= n.1620T= | |
2 | g.214728554A>C | CA2662969754 | BARD1 | c.*122T>G (n.*122T>G) c.599T>G n.791T>G n.2449T>G n.2392T>G n.1648T>G n.2822T>G n.2421T>G n.2364T>G n.1620T>G | gnomAD v4 |
2 | g.214728554A>G | CA2662969753 | BARD1 | c.*122T>C (n.*122T>C) c.599T>C n.791T>C n.2449T>C n.2392T>C n.1648T>C n.2822T>C n.2421T>C n.2364T>C n.1620T>C | gnomAD v4 |
2 | g.214728554A>T | CA431137501 | BARD1 | c.*122T>A (n.*122T>A) c.599T>A n.791T>A n.2449T>A n.2392T>A n.1648T>A n.2822T>A n.2421T>A n.2364T>A n.1620T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728554_214728555insCAAATA | CA2662969755 | BARD1 | c.*122_*123insATTTGT (n.*122_*123insATTTGT) c.599_600insATTTGT n.791_792insATTTGT n.2449_2450insATTTGT n.2392_2393insATTTGT n.1648_1649insATTTGT n.2822_2823insATTTGT n.2421_2422insATTTGT n.2364_2365insATTTGT n.1620_1621insATTTGT | gnomAD v4 |
2 | g.214728555T>A | CA2662969757 | BARD1 | c.*121A>T (n.*121A>T) c.598A>T n.790A>T n.2448A>T n.2391A>T n.1647A>T n.2821A>T n.2420A>T n.2363A>T n.1619A>T | gnomAD v4 |
2 | g.214728555T>G | CA2662969758 | BARD1 | c.*121A>C (n.*121A>C) c.598A>C n.790A>C n.2448A>C n.2391A>C n.1647A>C n.2821A>C n.2420A>C n.2363A>C n.1619A>C | dbSNP gnomAD v4 |
2 | g.214728556_214728557insTTT | CA539534882 | BARD1 | c.*121_*122insAAA (n.*121_*122insAAA) c.598_599insAAA n.790_791insAAA n.2448_2449insAAA n.2391_2392insAAA n.1647_1648insAAA n.2821_2822insAAA n.2420_2421insAAA n.2363_2364insAAA n.1619_1620insAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728556_214728557insTTTT | CA539534880 | BARD1 | c.*121_*122insAAAA (n.*121_*122insAAAA) c.598_599insAAAA n.790_791insAAAA n.2448_2449insAAAA n.2391_2392insAAAA n.1647_1648insAAAA n.2821_2822insAAAA n.2420_2421insAAAA n.2363_2364insAAAA n.1619_1620insAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728556_214728557insTTTTT | CA539534883 | BARD1 | c.*121_*122insAAAAA (n.*121_*122insAAAAA) c.598_599insAAAAA n.790_791insAAAAA n.2448_2449insAAAAA n.2391_2392insAAAAA n.1647_1648insAAAAA n.2821_2822insAAAAA n.2420_2421insAAAAA n.2363_2364insAAAAA n.1619_1620insAAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |