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.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 |
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.214728538_214728539insG | CA2754202914 | BARD1 | c.*137_*138insC (n.*137_*138insC) c.614_615insC n.806_807insC n.2464_2465insC n.2407_2408insC n.1663_1664insC n.2837_2838insC n.2436_2437insC n.2379_2380insC n.1635_1636insC | |
2 | g.214728539T= | CA1327045369 | BARD1 | c.*137A= (n.*137A=) c.614A= n.806A= n.2464A= n.2407A= n.1663A= n.2837A= n.2436A= n.2379A= n.1635A= | |
2 | g.214728539_214728540insAT | CA2662969717 | BARD1 | c.*137_*138insTA (n.*137_*138insTA) c.614_615insTA n.806_807insTA n.2464_2465insTA n.2407_2408insTA n.1663_1664insTA n.2837_2838insTA n.2436_2437insTA n.2379_2380insTA n.1635_1636insTA | gnomAD v4 |
2 | g.214728539_214728540insGT | CA2754202932 | BARD1 | c.*137_*138insCA (n.*137_*138insCA) c.614_615insCA n.806_807insCA n.2464_2465insCA n.2407_2408insCA n.1663_1664insCA n.2837_2838insCA n.2436_2437insCA n.2379_2380insCA n.1635_1636insCA | |
2 | g.214728539_214728540insA | CA1327045370 | BARD1 | c.*136_*137insT (n.*136_*137insT) c.613_614insT n.805_806insT n.2463_2464insT n.2406_2407insT n.1662_1663insT n.2836_2837insT n.2435_2436insT n.2378_2379insT n.1634_1635insT | dbSNP gnomAD v4 |
2 | g.214728540T>A | CA2662969721 | BARD1 | c.*136A>T (n.*136A>T) c.613A>T n.805A>T n.2463A>T n.2406A>T n.1662A>T n.2836A>T n.2435A>T n.2378A>T n.1634A>T | gnomAD v4 |
2 | g.214728540T>C | CA2662969719 | BARD1 | c.*136A>G (n.*136A>G) c.613A>G n.805A>G n.2463A>G n.2406A>G n.1662A>G n.2836A>G n.2435A>G n.2378A>G n.1634A>G | gnomAD v4 |
2 | g.214728540T= | CA1327045371 | BARD1 | c.*136A= (n.*136A=) c.613A= n.805A= n.2463A= n.2406A= n.1662A= n.2836A= n.2435A= n.2378A= n.1634A= | |
2 | g.214728541_214728542insCT | CA539534873 | BARD1 | c.*135_*136insGA (n.*135_*136insGA) c.612_613insGA n.804_805insGA n.2462_2463insGA n.2405_2406insGA n.1661_1662insGA n.2835_2836insGA n.2434_2435insGA n.2377_2378insGA n.1633_1634insGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728542_214728543insCTT | CA2662969724 | BARD1 | c.*135_*136insGAA (n.*135_*136insGAA) c.612_613insGAA n.804_805insGAA n.2462_2463insGAA n.2405_2406insGAA n.1661_1662insGAA n.2835_2836insGAA n.2434_2435insGAA n.2377_2378insGAA n.1633_1634insGAA | gnomAD v4 |
2 | g.214728541_214728542insC | CA2662969727 | BARD1 | c.*134_*135insG (n.*134_*135insG) c.611_612insG n.803_804insG n.2461_2462insG n.2404_2405insG n.1660_1661insG n.2834_2835insG n.2433_2434insG n.2376_2377insG n.1632_1633insG | gnomAD v4 |
2 | g.214728544T= | CA1327045372 | BARD1 | c.*132A= (n.*132A=) c.609A= n.801A= n.2459A= n.2402A= n.1658A= n.2832A= n.2431A= n.2374A= n.1630A= | |
2 | g.214728544_214728545insCT | CA2662969729 | BARD1 | c.*132_*133insGA (n.*132_*133insGA) c.609_610insGA n.801_802insGA n.2459_2460insGA n.2402_2403insGA n.1658_1659insGA n.2832_2833insGA n.2431_2432insGA n.2374_2375insGA n.1630_1631insGA | gnomAD v4 |
2 | g.214728544_214728545insC | CA1327045373 | BARD1 | c.*131_*132insG (n.*131_*132insG) c.608_609insG n.800_801insG n.2458_2459insG n.2401_2402insG n.1657_1658insG n.2831_2832insG n.2430_2431insG n.2373_2374insG n.1629_1630insG | dbSNP gnomAD v4 |
2 | g.214728545_214728546insGT | CA2662969730 | BARD1 | c.*131_*132insCA (n.*131_*132insCA) c.608_609insCA n.800_801insCA n.2458_2459insCA n.2401_2402insCA n.1657_1658insCA n.2831_2832insCA n.2430_2431insCA n.2373_2374insCA n.1629_1630insCA | gnomAD v4 |
2 | g.214728546_214728547insAT | CA2662969731 | BARD1 | c.*130_*131insTA (n.*130_*131insTA) c.607_608insTA n.799_800insTA n.2457_2458insTA n.2400_2401insTA n.1656_1657insTA n.2830_2831insTA n.2429_2430insTA n.2372_2373insTA n.1628_1629insTA | gnomAD v4 |