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.214728532T>A | CA2554931825 | BARD1 | c.*144A>T (n.*144A>T) n.813A>T n.2471A>T n.2414A>T n.1670A>T n.2443A>T n.2386A>T n.1642A>T | gnomAD v4 |
2 | g.214728532T>C | CA1042200848 | BARD1 | c.*144A>G (n.*144A>G) n.813A>G n.2471A>G n.2414A>G n.1670A>G n.2443A>G n.2386A>G n.1642A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728532T>G | CA2662969646 | BARD1 | c.*144A>C (n.*144A>C) n.813A>C n.2471A>C n.2414A>C n.1670A>C n.2443A>C n.2386A>C n.1642A>C | gnomAD v4 |
2 | g.214728532T= | CA1327045355 | BARD1 | c.*144A= (n.*144A=) n.813A= n.2471A= n.2414A= n.1670A= n.2443A= n.2386A= n.1642A= | |
2 | g.214728533T>A | CA2662969647 | BARD1 | c.*143A>T (n.*143A>T) n.812A>T n.2470A>T n.2413A>T n.1669A>T n.2442A>T n.2385A>T n.1641A>T | gnomAD v4 |
2 | g.214728533T>G | CA2662969648 | BARD1 | c.*143A>C (n.*143A>C) n.812A>C n.2470A>C n.2413A>C n.1669A>C n.2442A>C n.2385A>C n.1641A>C | gnomAD v4 |
2 | g.214728533_214728535delinsTAG | CA1327045356 | BARD1 | c.*141_*143delinsCTA (n.*141_*143delinsCTA) n.810_812delinsCTA n.2468_2470delinsCTA n.2411_2413delinsCTA n.1667_1669delinsCTA n.2440_2442delinsCTA n.2383_2385delinsCTA n.1639_1641delinsCTA | |
2 | g.214728534A= | CA1327045357 | BARD1 | c.*142T= (n.*142T=) n.811T= n.2469T= n.2412T= n.1668T= n.2441T= n.2384T= n.1640T= | |
2 | g.214728534A>C | CA2662969650 | BARD1 | c.*142T>G (n.*142T>G) n.811T>G n.2469T>G n.2412T>G n.1668T>G n.2441T>G n.2384T>G n.1640T>G | gnomAD v4 |
2 | g.214728534A>G | CA1042200849 | BARD1 | c.*142T>C (n.*142T>C) n.811T>C n.2469T>C n.2412T>C n.1668T>C n.2441T>C n.2384T>C n.1640T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728534A>T | CA2500351879 | BARD1 | c.*142T>A (n.*142T>A) n.811T>A n.2469T>A n.2412T>A n.1668T>A n.2441T>A n.2384T>A n.1640T>A | gnomAD v4 |
2 | g.214728535_214728536del | CA1042200851 | BARD1 | c.*141_*142del (n.*141_*142del) n.810_811del n.2468_2469del n.2411_2412del n.1667_1668del n.2440_2441del n.2383_2384del n.1639_1640del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728535G>C | CA1327045359 | BARD1 | c.*141C>G (n.*141C>G) n.810C>G n.2468C>G n.2411C>G n.1667C>G n.2440C>G n.2383C>G n.1639C>G | dbSNP gnomAD v4 |
2 | g.214728535G= | CA1327045358 | BARD1 | c.*141C= (n.*141C=) n.810C= n.2468C= n.2411C= n.1667C= n.2440C= n.2383C= n.1639C= | |
2 | g.214728535G>T | CA1327045360 | BARD1 | c.*141C>A (n.*141C>A) n.810C>A n.2468C>A n.2411C>A n.1667C>A n.2440C>A n.2383C>A n.1639C>A | dbSNP gnomAD v4 |
2 | g.214728536A= | CA1327045361 | BARD1 | c.*140T= (n.*140T=) n.809T= n.2467T= n.2410T= n.1666T= n.2439T= n.2382T= n.1638T= | |
2 | g.214728536A>T | CA1327045362 | BARD1 | c.*140T>A (n.*140T>A) n.809T>A n.2467T>A n.2410T>A n.1666T>A n.2439T>A n.2382T>A n.1638T>A | dbSNP gnomAD v4 |
2 | g.214728536_214728537insAT | CA2662969655 | BARD1 | c.*139_*140insAT (n.*139_*140insAT) n.808_809insAT n.2466_2467insAT n.2409_2410insAT n.1665_1666insAT n.2438_2439insAT n.2381_2382insAT n.1637_1638insAT | gnomAD v4 |
2 | g.214728536_214728537insATT | CA2662969657 | BARD1 | c.*139_*140insAAT (n.*139_*140insAAT) n.808_809insAAT n.2466_2467insAAT n.2409_2410insAAT n.1665_1666insAAT n.2438_2439insAAT n.2381_2382insAAT n.1637_1638insAAT | gnomAD v4 |
2 | g.214728537C>A | CA2662969656 | BARD1 | c.*139G>T (n.*139G>T) n.808G>T n.2466G>T n.2409G>T n.1665G>T n.2438G>T n.2381G>T n.1637G>T | gnomAD v4 |
2 | g.214728537C= | CA1327045363 | BARD1 | c.*139G= (n.*139G=) n.808G= n.2466G= n.2409G= n.1665G= n.2438G= n.2381G= n.1637G= | |
2 | g.214728537C>T | CA1042200859 | BARD1 | c.*139G>A (n.*139G>A) n.808G>A n.2466G>A n.2409G>A n.1665G>A n.2438G>A n.2381G>A n.1637G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728537_214728538delinsCT | CA2497029600 | BARD1 | c.*138_*139delinsAG (n.*138_*139delinsAG) n.807_808delinsAG n.2465_2466delinsAG n.2408_2409delinsAG n.1664_1665delinsAG n.2437_2438delinsAG n.2380_2381delinsAG n.1636_1637delinsAG | |
2 | g.214728537_214728540delinsCTTT | CA1327045364 | BARD1 | c.*136_*139delinsAAAG (n.*136_*139delinsAAAG) n.805_808delinsAAAG n.2463_2466delinsAAAG n.2406_2409delinsAAAG n.1662_1665delinsAAAG n.2435_2438delinsAAAG n.2378_2381delinsAAAG n.1634_1637delinsAAAG | |
2 | g.214728537_214728538insA | CA1327045367 | BARD1 | c.*138_*139insT (n.*138_*139insT) n.807_808insT n.2465_2466insT n.2408_2409insT n.1664_1665insT n.2437_2438insT n.2380_2381insT n.1636_1637insT | dbSNP gnomAD v4 |
2 | g.214728537_214728538insG | CA2662969699 | BARD1 | c.*138_*139insC (n.*138_*139insC) n.807_808insC n.2465_2466insC n.2408_2409insC n.1664_1665insC n.2437_2438insC n.2380_2381insC n.1636_1637insC | gnomAD v4 |
2 | g.214728537_214728538insAT | CA1327045368 | BARD1 | c.*138_*139insAT (n.*138_*139insAT) n.807_808insAT n.2465_2466insAT n.2408_2409insAT n.1664_1665insAT n.2437_2438insAT n.2380_2381insAT n.1636_1637insAT | dbSNP gnomAD v4 |
2 | g.214728537_214728538insCT | CA764557238 | BARD1 | c.*138_*139insAG (n.*138_*139insAG) n.807_808insAG n.2465_2466insAG n.2408_2409insAG n.1664_1665insAG n.2437_2438insAG n.2380_2381insAG n.1636_1637insAG | dbSNP |
2 | g.214728537_214728538insGT | CA764557231 | BARD1 | c.*138_*139insAC (n.*138_*139insAC) n.807_808insAC n.2465_2466insAC n.2408_2409insAC n.1664_1665insAC n.2437_2438insAC n.2380_2381insAC n.1636_1637insAC | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728537_214728538insATT | CA2662969696 | BARD1 | c.*138_*139insAAT (n.*138_*139insAAT) n.807_808insAAT n.2465_2466insAAT n.2408_2409insAAT n.1664_1665insAAT n.2437_2438insAAT n.2380_2381insAAT n.1636_1637insAAT | gnomAD v4 |
2 | g.214728537_214728538insATTT | CA764557222 | BARD1 | c.*138_*139insAAAT (n.*138_*139insAAAT) n.807_808insAAAT n.2465_2466insAAAT n.2408_2409insAAAT n.1664_1665insAAAT n.2437_2438insAAAT n.2380_2381insAAAT n.1636_1637insAAAT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728537_214728538insATTTT | CA2662969698 | BARD1 | c.*138_*139insAAAAT (n.*138_*139insAAAAT) n.807_808insAAAAT n.2465_2466insAAAAT n.2408_2409insAAAAT n.1664_1665insAAAAT n.2437_2438insAAAAT n.2380_2381insAAAAT n.1636_1637insAAAAT | gnomAD v4 |
2 | g.214728537_214728538insATTTTT | CA1042200905 | BARD1 | c.*138_*139insAAAAAT (n.*138_*139insAAAAAT) n.807_808insAAAAAT n.2465_2466insAAAAAT n.2408_2409insAAAAAT n.1664_1665insAAAAAT n.2437_2438insAAAAAT n.2380_2381insAAAAAT n.1636_1637insAAAAAT | gnomAD v3 gnomAD v4 |
2 | g.214728538T>A | CA1327045366 | BARD1 | c.*138A>T (n.*138A>T) c.615A>T n.807A>T n.2465A>T n.2408A>T n.1664A>T n.2838A>T n.2437A>T n.2380A>T n.1636A>T | dbSNP gnomAD v4 |
2 | g.214728538T= | CA1327045365 | BARD1 | c.*138A= (n.*138A=) c.615A= n.807A= n.2465A= n.2408A= n.1664A= n.2838A= n.2437A= n.2380A= n.1636A= | |
2 | g.214728538_214728539insCTT | CA2662969703 | BARD1 | c.*138_*139insAGA (n.*138_*139insAGA) n.807_808insAGA n.2465_2466insAGA n.2408_2409insAGA n.1664_1665insAGA n.2437_2438insAGA n.2380_2381insAGA n.1636_1637insAGA | 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 |