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.214728638G>A | CA2090040 | BARD1 | c.*38C>T (n.*38C>T) c.3747C>T c.515C>T n.707C>T n.2365C>T n.2308C>T n.1564C>T n.2738C>T n.2337C>T n.2280C>T n.1536C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728638G= | CA1327045410 | BARD1 | c.*38C= (n.*38C=) c.3747C= c.515C= n.707C= n.2365C= n.2308C= n.1564C= n.2738C= n.2337C= n.2280C= n.1536C= | |
2 | g.214728638_214728639insA | CA647580019 | BARD1 | c.*37_*38insT (n.*37_*38insT) c.3746_3747insT c.514_515insT n.706_707insT n.2364_2365insT n.2307_2308insT n.1563_1564insT n.2737_2738insT n.2336_2337insT n.2279_2280insT n.1535_1536insT | COSMIC |
2 | g.214728639T>G | CA1327045412 | BARD1 | c.*37A>C (n.*37A>C) c.3746A>C c.514A>C n.706A>C n.2364A>C n.2307A>C n.1563A>C n.2737A>C n.2336A>C n.2279A>C n.1535A>C | dbSNP |
2 | g.214728639T= | CA1327045411 | BARD1 | c.*37A= (n.*37A=) c.3746A= c.514A= n.706A= n.2364A= n.2307A= n.1563A= n.2737A= n.2336A= n.2279A= n.1535A= | |
2 | g.214728641C= | CA1327045413 | BARD1 | c.*35G= (n.*35G=) c.3744G= c.512G= n.704G= n.2362G= n.2305G= n.1561G= n.2735G= n.2334G= n.2277G= n.1533G= | |
2 | g.214728641C>G | CA539837270 | BARD1 | c.*35G>C (n.*35G>C) c.3744G>C c.512G>C n.704G>C n.2362G>C n.2305G>C n.1561G>C n.2735G>C n.2334G>C n.2277G>C n.1533G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214728641C>T | CA2662969906 | BARD1 | c.*35G>A (n.*35G>A) c.3744G>A c.512G>A n.704G>A n.2362G>A n.2305G>A n.1561G>A n.2735G>A n.2334G>A n.2277G>A n.1533G>A | gnomAD v4 |
2 | g.214728642A>G | CA2662969908 | BARD1 | c.*34T>C (n.*34T>C) c.3743T>C c.511T>C n.703T>C n.2361T>C n.2304T>C n.1560T>C n.2734T>C n.2333T>C n.2276T>C n.1532T>C | gnomAD v4 |
2 | g.214728645T>G | CA764557364 | BARD1 | c.*31A>C (n.*31A>C) c.3740A>C c.508A>C n.700A>C n.2358A>C n.2301A>C n.1557A>C n.2731A>C n.2330A>C n.2273A>C n.1529A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728645T= | CA1327045414 | BARD1 | c.*31A= (n.*31A=) c.3740A= c.508A= n.700A= n.2358A= n.2301A= n.1557A= n.2731A= n.2330A= n.2273A= n.1529A= | |
2 | g.214728647C>A | CA2577234230 | BARD1 | c.*29G>T (n.*29G>T) c.3738G>T c.506G>T n.698G>T n.2356G>T n.2299G>T n.1555G>T n.2729G>T n.2328G>T n.2271G>T n.1527G>T | |
2 | g.214728647_214728648delinsCA | CA1327045415 | BARD1 | c.*28_*29delinsTG (n.*28_*29delinsTG) c.3737_3738delinsTG c.505_506delinsTG n.697_698delinsTG n.2355_2356delinsTG n.2298_2299delinsTG n.1554_1555delinsTG n.2728_2729delinsTG n.2327_2328delinsTG n.2270_2271delinsTG n.1526_1527delinsTG | |
2 | g.214728649del | CA2090041 | BARD1 | c.*28del (n.*28del) c.3737del c.505del n.697del n.2355del n.2298del n.1554del n.2728del n.2327del n.2270del n.1526del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214728649A= | CA1327045416 | BARD1 | c.*27T= (n.*27T=) c.3736T= c.504T= n.696T= n.2354T= n.2297T= n.1553T= n.2727T= n.2326T= n.2269T= n.1525T= | |
2 | g.214728649A>C | CA2662969913 | BARD1 | c.*27T>G (n.*27T>G) c.3736T>G c.504T>G n.696T>G n.2354T>G n.2297T>G n.1553T>G n.2727T>G n.2326T>G n.2269T>G n.1525T>G | gnomAD v4 |
2 | g.214728649A>T | CA2090042 | BARD1 | c.*27T>A (n.*27T>A) c.3736T>A c.504T>A n.696T>A n.2354T>A n.2297T>A n.1553T>A n.2727T>A n.2326T>A n.2269T>A n.1525T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728650T>C | CA2577234231 | BARD1 | c.*26A>G (n.*26A>G) c.3735A>G c.503A>G n.695A>G n.2353A>G n.2296A>G n.1552A>G n.2726A>G n.2325A>G n.2268A>G n.1524A>G | |
2 | g.214728651T>A | CA2090043 | BARD1 | c.*25A>T (n.*25A>T) c.3734A>T c.502A>T n.694A>T n.2352A>T n.2295A>T n.1551A>T n.2725A>T n.2324A>T n.2267A>T n.1523A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214728651T>C | CA1327045418 | BARD1 | c.*25A>G (n.*25A>G) c.3734A>G c.502A>G n.694A>G n.2352A>G n.2295A>G n.1551A>G n.2725A>G n.2324A>G n.2267A>G n.1523A>G | dbSNP |
2 | g.214728651T= | CA1327045417 | BARD1 | c.*25A= (n.*25A=) c.3734A= c.502A= n.694A= n.2352A= n.2295A= n.1551A= n.2725A= n.2324A= n.2267A= n.1523A= | |
2 | g.214728652T>G | CA2577234232 | BARD1 | c.*24A>C (n.*24A>C) c.3733A>C c.501A>C n.693A>C n.2351A>C n.2294A>C n.1550A>C n.2724A>C n.2323A>C n.2266A>C n.1522A>C | |
2 | g.214728653G>C | CA2090044 | BARD1 | c.*23C>G (n.*23C>G) c.3732C>G c.500C>G n.692C>G n.2350C>G n.2293C>G n.1549C>G n.2723C>G n.2322C>G n.2265C>G n.1521C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728653G= | CA1327045419 | BARD1 | c.*23C= (n.*23C=) c.3732C= c.500C= n.692C= n.2350C= n.2293C= n.1549C= n.2723C= n.2322C= n.2265C= n.1521C= | |
2 | g.214728654A>C | CA2701482484 | BARD1 | c.*22T>G (n.*22T>G) c.3731T>G c.499T>G n.691T>G n.2349T>G n.2292T>G n.1548T>G n.2722T>G n.2321T>G n.2264T>G n.1520T>G | dbSNP |
2 | g.214728655A>G | CA2662969917 | BARD1 | c.*21T>C (n.*21T>C) c.3730T>C c.498T>C n.690T>C n.2348T>C n.2291T>C n.1547T>C n.2721T>C n.2320T>C n.2263T>C n.1519T>C | gnomAD v4 |
2 | g.214728658G>A | CA2577234233 | BARD1 | c.*18C>T (n.*18C>T) c.3727C>T c.495C>T n.687C>T n.2345C>T n.2288C>T n.1544C>T n.2718C>T n.2317C>T n.2260C>T n.1516C>T | |
2 | g.214728658G>T | CA2662969919 | BARD1 | c.*18C>A (n.*18C>A) c.3727C>A c.495C>A n.687C>A n.2345C>A n.2288C>A n.1544C>A n.2718C>A n.2317C>A n.2260C>A n.1516C>A | gnomAD v4 |
2 | g.214728659T>A | CA1327045421 | BARD1 | c.*17A>T (n.*17A>T) c.3726A>T c.494A>T n.686A>T n.2344A>T n.2287A>T n.1543A>T n.2717A>T n.2316A>T n.2259A>T n.1515A>T | dbSNP |
2 | g.214728659T>G | CA2577234234 | BARD1 | c.*17A>C (n.*17A>C) c.3726A>C c.494A>C n.686A>C n.2344A>C n.2287A>C n.1543A>C n.2717A>C n.2316A>C n.2259A>C n.1515A>C | |
2 | g.214728659T= | CA1327045420 | BARD1 | c.*17A= (n.*17A=) c.3726A= c.494A= n.686A= n.2344A= n.2287A= n.1543A= n.2717A= n.2316A= n.2259A= n.1515A= | |
2 | g.214728660T>A | CA2518078858 | BARD1 | c.*16A>T (n.*16A>T) c.3725A>T c.493A>T n.685A>T n.2343A>T n.2286A>T n.1542A>T n.2716A>T n.2315A>T n.2258A>T n.1514A>T | gnomAD v4 |
2 | g.214728661del | CA2586971185 | BARD1 | c.*15del (n.*15del) c.3724del c.492del n.684del n.2342del n.2285del n.1541del n.2715del n.2314del n.2257del n.1513del | |
2 | g.214728662A>G | CA2662969922 | BARD1 | c.*14T>C (n.*14T>C) c.3723T>C c.491T>C n.683T>C n.2341T>C n.2284T>C n.1540T>C n.2714T>C n.2313T>C n.2256T>C n.1512T>C | gnomAD v4 |
2 | g.214728663T>C | CA539837271 | BARD1 | c.*13A>G (n.*13A>G) c.3722A>G c.490A>G n.682A>G n.2340A>G n.2283A>G n.1539A>G n.2713A>G n.2312A>G n.2255A>G n.1511A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214728663T>G | CA2090045 | BARD1 | c.*13A>C (n.*13A>C) c.3722A>C c.490A>C n.682A>C n.2340A>C n.2283A>C n.1539A>C n.2713A>C n.2312A>C n.2255A>C n.1511A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728663T= | CA1327045422 | BARD1 | c.*13A= (n.*13A=) c.3722A= c.490A= n.682A= n.2340A= n.2283A= n.1539A= n.2713A= n.2312A= n.2255A= n.1511A= | |
2 | g.214728664C>A | CA2662969924 | BARD1 | c.*12G>T (n.*12G>T) c.3721G>T c.489G>T n.681G>T n.2339G>T n.2282G>T n.1538G>T n.2712G>T n.2311G>T n.2254G>T n.1510G>T | gnomAD v4 |
2 | g.214728664C= | CA1327045423 | BARD1 | c.*12G= (n.*12G=) c.3721G= c.489G= n.681G= n.2339G= n.2282G= n.1538G= n.2712G= n.2311G= n.2254G= n.1510G= | |
2 | g.214728664C>G | CA2090046 | BARD1 | c.*12G>C (n.*12G>C) c.3721G>C c.489G>C n.681G>C n.2339G>C n.2282G>C n.1538G>C n.2712G>C n.2311G>C n.2254G>C n.1510G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728665T>C | CA2662969926 | BARD1 | c.*11A>G (n.*11A>G) c.3720A>G c.488A>G n.680A>G n.2338A>G n.2281A>G n.1537A>G n.2711A>G n.2310A>G n.2253A>G n.1509A>G | gnomAD v4 |
2 | g.214728666G>A | CA1042201145 | BARD1 | c.*10C>T (n.*10C>T) c.3719C>T c.487C>T n.679C>T n.2337C>T n.2280C>T n.1536C>T n.2710C>T n.2309C>T n.2252C>T n.1508C>T | gnomAD v3 gnomAD v4 |
2 | g.214728667G>A | CA2090047 | BARD1 | c.*9C>T (n.*9C>T) c.3718C>T c.486C>T n.678C>T n.2336C>T n.2279C>T n.1535C>T n.2709C>T n.2308C>T n.2251C>T n.1507C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214728667G>C | CA2701328389 | BARD1 | c.*9C>G (n.*9C>G) c.3718C>G c.486C>G n.678C>G n.2336C>G n.2279C>G n.1535C>G n.2709C>G n.2308C>G n.2251C>G n.1507C>G | dbSNP |
2 | g.214728667G= | CA1327045424 | BARD1 | c.*9C= (n.*9C=) c.3718C= c.486C= n.678C= n.2336C= n.2279C= n.1535C= n.2709C= n.2308C= n.2251C= n.1507C= | |
2 | g.214728668T>A | CA2662969927 | BARD1 | c.*8A>T (n.*8A>T) c.3717A>T c.485A>T n.677A>T n.2335A>T n.2278A>T n.1534A>T n.2708A>T n.2307A>T n.2250A>T n.1506A>T | gnomAD v4 |
2 | g.214728668T>C | CA2577234235 | BARD1 | c.*8A>G (n.*8A>G) c.3717A>G c.485A>G n.677A>G n.2335A>G n.2278A>G n.1534A>G n.2708A>G n.2307A>G n.2250A>G n.1506A>G | ClinVar |
2 | g.214728669A= | CA1327045426 | BARD1 | c.*7T= (n.*7T=) c.3716T= c.484T= n.676T= n.2334T= n.2277T= n.1533T= n.2707T= n.2306T= n.2249T= n.1505T= |