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.214728613T>A | CA2701482482 | BARD1 | c.*63A>T (n.*63A>T) c.3772A>T c.540A>T n.732A>T n.2390A>T n.2333A>T n.1589A>T n.2763A>T n.2362A>T n.2305A>T n.1561A>T | dbSNP |
2 | g.214728613T>G | CA2577234221 | BARD1 | c.*63A>C (n.*63A>C) c.3772A>C c.540A>C n.732A>C n.2390A>C n.2333A>C n.1589A>C n.2763A>C n.2362A>C n.2305A>C n.1561A>C | |
2 | g.214728614A>G | CA2662969863 | BARD1 | c.*62T>C (n.*62T>C) c.3771T>C c.539T>C n.731T>C n.2389T>C n.2332T>C n.1588T>C n.2762T>C n.2361T>C n.2304T>C n.1560T>C | gnomAD v4 |
2 | g.214728614A>T | CA2972183779 | BARD1 | c.*62T>A (n.*62T>A) c.3771T>A c.539T>A n.731T>A n.2389T>A n.2332T>A n.1588T>A n.2762T>A n.2361T>A n.2304T>A n.1560T>A | |
2 | g.214728615C>A | CA2972183780 | BARD1 | c.*61G>T (n.*61G>T) c.3770G>T c.538G>T n.730G>T n.2388G>T n.2331G>T n.1587G>T n.2761G>T n.2360G>T n.2303G>T n.1559G>T | |
2 | g.214728615C>G | CA2662969865 | BARD1 | c.*61G>C (n.*61G>C) c.3770G>C c.538G>C n.730G>C n.2388G>C n.2331G>C n.1587G>C n.2761G>C n.2360G>C n.2303G>C n.1559G>C | gnomAD v4 |
2 | g.214728616A>G | CA2662969868 | BARD1 | c.*60T>C (n.*60T>C) c.3769T>C c.537T>C n.729T>C n.2387T>C n.2330T>C n.1586T>C n.2760T>C n.2359T>C n.2302T>C n.1558T>C | gnomAD v4 |
2 | g.214728616_214728618del | CA2662969867 | BARD1 | c.*58_*60del (n.*58_*60del) c.3767_3769del c.535_537del n.727_729del n.2385_2387del n.2328_2330del n.1584_1586del n.2758_2760del n.2357_2359del n.2300_2302del n.1556_1558del | gnomAD v4 |
2 | g.214728617A= | CA1327045403 | BARD1 | c.*59T= (n.*59T=) c.3768T= c.536T= n.728T= n.2386T= n.2329T= n.1585T= n.2759T= n.2358T= n.2301T= n.1557T= | |
2 | g.214728617A>C | CA2972183781 | BARD1 | c.*59T>G (n.*59T>G) c.3768T>G c.536T>G n.728T>G n.2386T>G n.2329T>G n.1585T>G n.2759T>G n.2358T>G n.2301T>G n.1557T>G | |
2 | g.214728617A>G | CA539837267 | BARD1 | c.*59T>C (n.*59T>C) c.3768T>C c.536T>C n.728T>C n.2386T>C n.2329T>C n.1585T>C n.2759T>C n.2358T>C n.2301T>C n.1557T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214728619G>A | CA2662969874 | BARD1 | c.*57C>T (n.*57C>T) c.3766C>T c.534C>T n.726C>T n.2384C>T n.2327C>T n.1583C>T n.2757C>T n.2356C>T n.2299C>T n.1555C>T | gnomAD v4 |
2 | g.214728619G>T | CA2662969876 | BARD1 | c.*57C>A (n.*57C>A) c.3766C>A c.534C>A n.726C>A n.2384C>A n.2327C>A n.1583C>A n.2757C>A n.2356C>A n.2299C>A n.1555C>A | gnomAD v4 |
2 | g.214728620A>C | CA2662969877 | BARD1 | c.*56T>G (n.*56T>G) c.3765T>G c.533T>G n.725T>G n.2383T>G n.2326T>G n.1582T>G n.2756T>G n.2355T>G n.2298T>G n.1554T>G | gnomAD v4 |
2 | g.214728621C>A | CA2662969879 | BARD1 | c.*55G>T (n.*55G>T) c.3764G>T c.532G>T n.724G>T n.2382G>T n.2325G>T n.1581G>T n.2755G>T n.2354G>T n.2297G>T n.1553G>T | gnomAD v4 |
2 | g.214728621C>T | CA2577234222 | BARD1 | c.*55G>A (n.*55G>A) c.3764G>A c.532G>A n.724G>A n.2382G>A n.2325G>A n.1581G>A n.2755G>A n.2354G>A n.2297G>A n.1553G>A | |
2 | g.214728623G>A | CA2662969884 | BARD1 | c.*53C>T (n.*53C>T) c.3762C>T c.530C>T n.722C>T n.2380C>T n.2323C>T n.1579C>T n.2753C>T n.2352C>T n.2295C>T n.1551C>T | gnomAD v4 |
2 | g.214728623G>C | CA1327045404 | BARD1 | c.*53C>G (n.*53C>G) c.3762C>G c.530C>G n.722C>G n.2380C>G n.2323C>G n.1579C>G n.2753C>G n.2352C>G n.2295C>G n.1551C>G | dbSNP gnomAD v4 |
2 | g.214728623G= | CA1327045405 | BARD1 | c.*53C= (n.*53C=) c.3762C= c.530C= n.722C= n.2380C= n.2323C= n.1579C= n.2753C= n.2352C= n.2295C= n.1551C= | |
2 | g.214728623G>T | CA2577234223 | BARD1 | c.*53C>A (n.*53C>A) c.3762C>A c.530C>A n.722C>A n.2380C>A n.2323C>A n.1579C>A n.2753C>A n.2352C>A n.2295C>A n.1551C>A | gnomAD v4 |
2 | g.214728625dup | CA2972183782 | BARD1 | c.*53dup (n.*53dup) c.3762dup c.530dup n.722dup n.2380dup n.2323dup n.1579dup n.2753dup n.2352dup n.2295dup n.1551dup | |
2 | g.214728625del | CA2662969882 | BARD1 | c.*53del (n.*53del) c.3762del c.530del n.722del n.2380del n.2323del n.1579del n.2753del n.2352del n.2295del n.1551del | gnomAD v4 |
2 | g.214728624G>A | CA2662969888 | BARD1 | c.*52C>T (n.*52C>T) c.3761C>T c.529C>T n.721C>T n.2379C>T n.2322C>T n.1578C>T n.2752C>T n.2351C>T n.2294C>T n.1550C>T | gnomAD v4 |
2 | g.214728624G>C | CA2662969891 | BARD1 | c.*52C>G (n.*52C>G) c.3761C>G c.529C>G n.721C>G n.2379C>G n.2322C>G n.1578C>G n.2752C>G n.2351C>G n.2294C>G n.1550C>G | gnomAD v4 |
2 | g.214728624G>T | CA2577234224 | BARD1 | c.*52C>A (n.*52C>A) c.3761C>A c.529C>A n.721C>A n.2379C>A n.2322C>A n.1578C>A n.2752C>A n.2351C>A n.2294C>A n.1550C>A | gnomAD v4 |
2 | g.214728625G>A | CA2972183784 | BARD1 | c.*51C>T (n.*51C>T) c.3760C>T c.528C>T n.720C>T n.2378C>T n.2321C>T n.1577C>T n.2751C>T n.2350C>T n.2293C>T n.1549C>T | |
2 | g.214728625G>C | CA2972183783 | BARD1 | c.*51C>G (n.*51C>G) c.3760C>G c.528C>G n.720C>G n.2378C>G n.2321C>G n.1577C>G n.2751C>G n.2350C>G n.2293C>G n.1549C>G | |
2 | g.214728625G>T | CA2577234225 | BARD1 | c.*51C>A (n.*51C>A) c.3760C>A c.528C>A n.720C>A n.2378C>A n.2321C>A n.1577C>A n.2751C>A n.2350C>A n.2293C>A n.1549C>A | gnomAD v4 |
2 | g.214728626C>A | CA2662969893 | BARD1 | c.*50G>T (n.*50G>T) c.3759G>T c.527G>T n.719G>T n.2377G>T n.2320G>T n.1576G>T n.2750G>T n.2349G>T n.2292G>T n.1548G>T | gnomAD v4 |
2 | g.214728626C= | CA1327045406 | BARD1 | c.*50G= (n.*50G=) c.3759G= c.527G= n.719G= n.2377G= n.2320G= n.1576G= n.2750G= n.2349G= n.2292G= n.1548G= | |
2 | g.214728626C>G | CA2662969894 | BARD1 | c.*50G>C (n.*50G>C) c.3759G>C c.527G>C n.719G>C n.2377G>C n.2320G>C n.1576G>C n.2750G>C n.2349G>C n.2292G>C n.1548G>C | gnomAD v4 |
2 | g.214728626C>T | CA539837268 | BARD1 | c.*50G>A (n.*50G>A) c.3759G>A c.527G>A n.719G>A n.2377G>A n.2320G>A n.1576G>A n.2750G>A n.2349G>A n.2292G>A n.1548G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728628C>T | CA2972183785 | BARD1 | c.*48G>A (n.*48G>A) c.3757G>A c.525G>A n.717G>A n.2375G>A n.2318G>A n.1574G>A n.2748G>A n.2347G>A n.2290G>A n.1546G>A | |
2 | g.214728629T>C | CA2972183786 | BARD1 | c.*47A>G (n.*47A>G) c.3756A>G c.524A>G n.716A>G n.2374A>G n.2317A>G n.1573A>G n.2747A>G n.2346A>G n.2289A>G n.1545A>G | |
2 | g.214728630C>A | CA2972183787 | BARD1 | c.*46G>T (n.*46G>T) c.3755G>T c.523G>T n.715G>T n.2373G>T n.2316G>T n.1572G>T n.2746G>T n.2345G>T n.2288G>T n.1544G>T | |
2 | g.214728630C>T | CA2701482483 | BARD1 | c.*46G>A (n.*46G>A) c.3755G>A c.523G>A n.715G>A n.2373G>A n.2316G>A n.1572G>A n.2746G>A n.2345G>A n.2288G>A n.1544G>A | dbSNP |
2 | g.214728630_214728634delinsCACAA | CA1327045407 | BARD1 | c.*42_*46delinsTTGTG (n.*42_*46delinsTTGTG) c.3751_3755delinsTTGTG c.519_523delinsTTGTG n.711_715delinsTTGTG n.2369_2373delinsTTGTG n.2312_2316delinsTTGTG n.1568_1572delinsTTGTG n.2742_2746delinsTTGTG n.2341_2345delinsTTGTG n.2284_2288delinsTTGTG n.1540_1544delinsTTGTG | |
2 | g.214728631A>C | CA2577234226 | BARD1 | c.*45T>G (n.*45T>G) c.3754T>G c.522T>G n.714T>G n.2372T>G n.2315T>G n.1571T>G n.2745T>G n.2344T>G n.2287T>G n.1543T>G | |
2 | g.214728633_214728636del | CA764557355 | BARD1 | c.*42_*45del (n.*42_*45del) c.3751_3754del c.519_522del n.711_714del n.2369_2372del n.2312_2315del n.1568_1571del n.2742_2745del n.2341_2344del n.2284_2287del n.1540_1543del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728632C>A | CA64792530 | BARD1 | c.*44G>T (n.*44G>T) c.3753G>T c.521G>T n.713G>T n.2371G>T n.2314G>T n.1570G>T n.2744G>T n.2343G>T n.2286G>T n.1542G>T | dbSNP |
2 | g.214728632C= | CA1327045408 | BARD1 | c.*44G= (n.*44G=) c.3753G= c.521G= n.713G= n.2371G= n.2314G= n.1570G= n.2744G= n.2343G= n.2286G= n.1542G= | |
2 | g.214728632C>T | CA539837269 | BARD1 | c.*44G>A (n.*44G>A) c.3753G>A c.521G>A n.713G>A n.2371G>A n.2314G>A n.1570G>A n.2744G>A n.2343G>A n.2286G>A n.1542G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728633A>C | CA2577234227 | BARD1 | c.*43T>G (n.*43T>G) c.3752T>G c.520T>G n.712T>G n.2370T>G n.2313T>G n.1569T>G n.2743T>G n.2342T>G n.2285T>G n.1541T>G | |
2 | g.214728634A>C | CA2577234228 | BARD1 | c.*42T>G (n.*42T>G) c.3751T>G c.519T>G n.711T>G n.2369T>G n.2312T>G n.1568T>G n.2742T>G n.2341T>G n.2284T>G n.1540T>G | |
2 | g.214728635A>C | CA2577234229 | BARD1 | c.*41T>G (n.*41T>G) c.3750T>G c.518T>G n.710T>G n.2368T>G n.2311T>G n.1567T>G n.2741T>G n.2340T>G n.2283T>G n.1539T>G | |
2 | g.214728635A>T | CA2662969895 | BARD1 | c.*41T>A (n.*41T>A) c.3750T>A c.518T>A n.710T>A n.2368T>A n.2311T>A n.1567T>A n.2741T>A n.2340T>A n.2283T>A n.1539T>A | gnomAD v4 |
2 | g.214728636C>A | CA2662969898 | BARD1 | c.*40G>T (n.*40G>T) c.3749G>T c.517G>T n.709G>T n.2367G>T n.2310G>T n.1566G>T n.2740G>T n.2339G>T n.2282G>T n.1538G>T | gnomAD v4 |
2 | g.214728636C>T | CA2662969897 | BARD1 | c.*40G>A (n.*40G>A) c.3749G>A c.517G>A n.709G>A n.2367G>A n.2310G>A n.1566G>A n.2740G>A n.2339G>A n.2282G>A n.1538G>A | gnomAD v4 |