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.214728552_214728553del | CA2662969737 | BARD1 | c.*123_*124del (n.*123_*124del) c.600_601del n.792_793del n.2450_2451del n.2393_2394del n.1649_1650del n.2823_2824del n.2422_2423del n.2365_2366del n.1621_1622del | gnomAD v4 |
2 | g.214728552_214728553delinsTG | CA1327045375 | BARD1 | c.*123_*124delinsCA (n.*123_*124delinsCA) c.600_601delinsCA n.792_793delinsCA n.2450_2451delinsCA n.2393_2394delinsCA n.1649_1650delinsCA n.2823_2824delinsCA n.2422_2423delinsCA n.2365_2366delinsCA n.1621_1622delinsCA | |
2 | g.214728552_214728554delinsTGA | CA1327045376 | BARD1 | c.*122_*124delinsTCA (n.*122_*124delinsTCA) c.599_601delinsTCA n.791_793delinsTCA n.2449_2451delinsTCA n.2392_2394delinsTCA n.1648_1650delinsTCA n.2822_2824delinsTCA n.2421_2423delinsTCA n.2364_2366delinsTCA n.1620_1622delinsTCA | |
2 | g.214728553del | CA539534878 | BARD1 | c.*123del (n.*123del) c.600del n.792del n.2450del n.2393del n.1649del n.2823del n.2422del n.2365del n.1621del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553G>A | CA539534876 | BARD1 | c.*123C>T (n.*123C>T) c.600C>T n.792C>T n.2450C>T n.2393C>T n.1649C>T n.2823C>T n.2422C>T n.2365C>T n.1621C>T | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553G>C | CA2662969751 | BARD1 | c.*123C>G (n.*123C>G) c.600C>G n.792C>G n.2450C>G n.2393C>G n.1649C>G n.2823C>G n.2422C>G n.2365C>G n.1621C>G | gnomAD v4 |
2 | g.214728553G= | CA1327045377 | BARD1 | c.*123C= (n.*123C=) c.600C= n.792C= n.2450C= n.2393C= n.1649C= n.2823C= n.2422C= n.2365C= n.1621C= | |
2 | g.214728553G>T | CA539534874 | BARD1 | c.*123C>A (n.*123C>A) c.600C>A n.792C>A n.2450C>A n.2393C>A n.1649C>A n.2823C>A n.2422C>A n.2365C>A n.1621C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553_214728554del | CA539534877 | BARD1 | c.*122_*123del (n.*122_*123del) c.599_600del n.791_792del n.2449_2450del n.2392_2393del n.1648_1649del n.2822_2823del n.2421_2422del n.2364_2365del n.1620_1621del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728553_214728554insT | CA647580017 | BARD1 | c.*122_*123insA (n.*122_*123insA) c.599_600insA n.791_792insA n.2449_2450insA n.2392_2393insA n.1648_1649insA n.2822_2823insA n.2421_2422insA n.2364_2365insA n.1620_1621insA | COSMIC |
2 | g.214728554del | CA1042200941 | BARD1 | c.*122del (n.*122del) c.599del n.791del n.2449del n.2392del n.1648del n.2822del n.2421del n.2364del n.1620del | gnomAD v3 gnomAD v4 |
2 | g.214728554A= | CA1327045378 | BARD1 | c.*122T= (n.*122T=) c.599T= n.791T= n.2449T= n.2392T= n.1648T= n.2822T= n.2421T= n.2364T= n.1620T= | |
2 | g.214728554A>C | CA2662969754 | BARD1 | c.*122T>G (n.*122T>G) c.599T>G n.791T>G n.2449T>G n.2392T>G n.1648T>G n.2822T>G n.2421T>G n.2364T>G n.1620T>G | gnomAD v4 |
2 | g.214728554A>G | CA2662969753 | BARD1 | c.*122T>C (n.*122T>C) c.599T>C n.791T>C n.2449T>C n.2392T>C n.1648T>C n.2822T>C n.2421T>C n.2364T>C n.1620T>C | gnomAD v4 |
2 | g.214728554A>T | CA431137501 | BARD1 | c.*122T>A (n.*122T>A) c.599T>A n.791T>A n.2449T>A n.2392T>A n.1648T>A n.2822T>A n.2421T>A n.2364T>A n.1620T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728554_214728555insCAAATA | CA2662969755 | BARD1 | c.*122_*123insATTTGT (n.*122_*123insATTTGT) c.599_600insATTTGT n.791_792insATTTGT n.2449_2450insATTTGT n.2392_2393insATTTGT n.1648_1649insATTTGT n.2822_2823insATTTGT n.2421_2422insATTTGT n.2364_2365insATTTGT n.1620_1621insATTTGT | gnomAD v4 |
2 | g.214728555T>A | CA2662969757 | BARD1 | c.*121A>T (n.*121A>T) c.598A>T n.790A>T n.2448A>T n.2391A>T n.1647A>T n.2821A>T n.2420A>T n.2363A>T n.1619A>T | gnomAD v4 |
2 | g.214728555T>G | CA2662969758 | BARD1 | c.*121A>C (n.*121A>C) c.598A>C n.790A>C n.2448A>C n.2391A>C n.1647A>C n.2821A>C n.2420A>C n.2363A>C n.1619A>C | dbSNP gnomAD v4 |
2 | g.214728556_214728557insTTT | CA539534882 | BARD1 | c.*121_*122insAAA (n.*121_*122insAAA) c.598_599insAAA n.790_791insAAA n.2448_2449insAAA n.2391_2392insAAA n.1647_1648insAAA n.2821_2822insAAA n.2420_2421insAAA n.2363_2364insAAA n.1619_1620insAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728556_214728557insTTTT | CA539534880 | BARD1 | c.*121_*122insAAAA (n.*121_*122insAAAA) c.598_599insAAAA n.790_791insAAAA n.2448_2449insAAAA n.2391_2392insAAAA n.1647_1648insAAAA n.2821_2822insAAAA n.2420_2421insAAAA n.2363_2364insAAAA n.1619_1620insAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728556_214728557insTTTTT | CA539534883 | BARD1 | c.*121_*122insAAAAA (n.*121_*122insAAAAA) c.598_599insAAAAA n.790_791insAAAAA n.2448_2449insAAAAA n.2391_2392insAAAAA n.1647_1648insAAAAA n.2821_2822insAAAAA n.2420_2421insAAAAA n.2363_2364insAAAAA n.1619_1620insAAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728556_214728557insTTTTTT | CA539534884 | BARD1 | c.*121_*122insAAAAAA (n.*121_*122insAAAAAA) c.598_599insAAAAAA n.790_791insAAAAAA n.2448_2449insAAAAAA n.2391_2392insAAAAAA n.1647_1648insAAAAAA n.2821_2822insAAAAAA n.2420_2421insAAAAAA n.2363_2364insAAAAAA n.1619_1620insAAAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728556_214728557insTTTTTTTTTT | CA1042200947 | BARD1 | c.*121_*122insAAAAAAAAAA (n.*121_*122insAAAAAAAAAA) c.598_599insAAAAAAAAAA n.790_791insAAAAAAAAAA n.2448_2449insAAAAAAAAAA n.2391_2392insAAAAAAAAAA n.1647_1648insAAAAAAAAAA n.2821_2822insAAAAAAAAAA n.2420_2421insAAAAAAAAAA n.2363_2364insAAAAAAAAAA n.1619_1620insAAAAAAAAAA | gnomAD v3 gnomAD v4 |
2 | g.214728556dup | CA2662969760 | BARD1 | c.*121dup (n.*121dup) c.598dup n.790dup n.2448dup n.2391dup n.1647dup n.2821dup n.2420dup n.2363dup n.1619dup | gnomAD v4 |
2 | g.214728556T>A | CA2662969766 | BARD1 | c.*120A>T (n.*120A>T) c.597A>T n.789A>T n.2447A>T n.2390A>T n.1646A>T n.2820A>T n.2419A>T n.2362A>T n.1618A>T | gnomAD v4 |
2 | g.214728556T>C | CA2662969767 | BARD1 | c.*120A>G (n.*120A>G) c.597A>G n.789A>G n.2447A>G n.2390A>G n.1646A>G n.2820A>G n.2419A>G n.2362A>G n.1618A>G | gnomAD v4 |
2 | g.214728556T>G | CA2662969769 | BARD1 | c.*120A>C (n.*120A>C) c.597A>C n.789A>C n.2447A>C n.2390A>C n.1646A>C n.2820A>C n.2419A>C n.2362A>C n.1618A>C | gnomAD v4 |
2 | g.214728556_214728557insGT | CA2662969764 | BARD1 | c.*120_*121insCA (n.*120_*121insCA) c.597_598insCA n.789_790insCA n.2447_2448insCA n.2390_2391insCA n.1646_1647insCA n.2820_2821insCA n.2419_2420insCA n.2362_2363insCA n.1618_1619insCA | gnomAD v4 |
2 | g.214728556_214728557insTGT | CA2662969765 | BARD1 | c.*120_*121insCAA (n.*120_*121insCAA) c.597_598insCAA n.789_790insCAA n.2447_2448insCAA n.2390_2391insCAA n.1646_1647insCAA n.2820_2821insCAA n.2419_2420insCAA n.2362_2363insCAA n.1618_1619insCAA | gnomAD v4 |
2 | g.214728556_214728558delinsTCA | CA1327045379 | BARD1 | c.*118_*120delinsTGA (n.*118_*120delinsTGA) c.595_597delinsTGA n.787_789delinsTGA n.2445_2447delinsTGA n.2388_2390delinsTGA n.1644_1646delinsTGA n.2818_2820delinsTGA n.2417_2419delinsTGA n.2360_2362delinsTGA n.1616_1618delinsTGA | |
2 | g.214728556_214728560del | CA1042200955 | BARD1 | c.*116_*120del (n.*116_*120del) c.593_597del n.785_789del n.2443_2447del n.2386_2390del n.1642_1646del n.2816_2820del n.2415_2419del n.2358_2362del n.1614_1618del | gnomAD v3 gnomAD v4 |
2 | g.214728557C>A | CA539534886 | BARD1 | c.*119G>T (n.*119G>T) c.596G>T n.788G>T n.2446G>T n.2389G>T n.1645G>T n.2819G>T n.2418G>T n.2361G>T n.1617G>T | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728557C= | CA1327045380 | BARD1 | c.*119G= (n.*119G=) c.596G= n.788G= n.2446G= n.2389G= n.1645G= n.2819G= n.2418G= n.2361G= n.1617G= | |
2 | g.214728557C>G | CA2662969772 | BARD1 | c.*119G>C (n.*119G>C) c.596G>C n.788G>C n.2446G>C n.2389G>C n.1645G>C n.2819G>C n.2418G>C n.2361G>C n.1617G>C | gnomAD v4 |
2 | g.214728557C>T | CA539534888 | BARD1 | c.*119G>A (n.*119G>A) c.596G>A n.788G>A n.2446G>A n.2389G>A n.1645G>A n.2819G>A n.2418G>A n.2361G>A n.1617G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728557_214728558del | CA539534885 | BARD1 | c.*118_*119del (n.*118_*119del) c.595_596del n.787_788del n.2445_2446del n.2388_2389del n.1644_1645del n.2818_2819del n.2417_2418del n.2360_2361del n.1616_1617del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728557_214728561del | CA2607394560 | BARD1 | c.*115_*119del (n.*115_*119del) c.592_596del n.784_788del n.2442_2446del n.2385_2389del n.1641_1645del n.2815_2819del n.2414_2418del n.2357_2361del n.1613_1617del | gnomAD v3 gnomAD v4 |
2 | g.214728557_214728563del | CA2662969773 | BARD1 | c.*113_*119del (n.*113_*119del) c.590_596del n.782_788del n.2440_2446del n.2383_2389del n.1639_1645del n.2813_2819del n.2412_2418del n.2355_2361del n.1611_1617del | gnomAD v4 |
2 | g.214728557_214728564del | CA1042200974 | BARD1 | c.*112_*119del (n.*112_*119del) c.589_596del n.781_788del n.2439_2446del n.2382_2389del n.1638_1645del n.2812_2819del n.2411_2418del n.2354_2361del n.1610_1617del | gnomAD v3 gnomAD v4 |
2 | g.214728557_214728566del | CA1042200978 | BARD1 | c.*110_*119del (n.*110_*119del) c.587_596del n.779_788del n.2437_2446del n.2380_2389del n.1636_1645del n.2810_2819del n.2409_2418del n.2352_2361del n.1608_1617del | gnomAD v3 gnomAD v4 |
2 | g.214728561_214728566del | CA1042200971 | BARD1 | c.*114_*119del (n.*114_*119del) c.591_596del n.783_788del n.2441_2446del n.2384_2389del n.1640_1645del n.2814_2819del n.2413_2418del n.2356_2361del n.1612_1617del | gnomAD v3 gnomAD v4 |
2 | g.214728558A= | CA1327045381 | BARD1 | c.*118T= (n.*118T=) c.595T= n.787T= n.2445T= n.2388T= n.1644T= n.2818T= n.2417T= n.2360T= n.1616T= | |
2 | g.214728558A>C | CA2662969776 | BARD1 | c.*118T>G (n.*118T>G) c.595T>G n.787T>G n.2445T>G n.2388T>G n.1644T>G n.2818T>G n.2417T>G n.2360T>G n.1616T>G | gnomAD v4 |
2 | g.214728558A>G | CA764557306 | BARD1 | c.*118T>C (n.*118T>C) c.595T>C n.787T>C n.2445T>C n.2388T>C n.1644T>C n.2818T>C n.2417T>C n.2360T>C n.1616T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728558A>T | CA2662969778 | BARD1 | c.*118T>A (n.*118T>A) c.595T>A n.787T>A n.2445T>A n.2388T>A n.1644T>A n.2818T>A n.2417T>A n.2360T>A n.1616T>A | gnomAD v4 |
2 | g.214728560del | CA2662969775 | BARD1 | c.*118del (n.*118del) c.595del n.787del n.2445del n.2388del n.1644del n.2818del n.2417del n.2360del n.1616del | gnomAD v4 |
2 | g.214728558_214728562del | CA1042200982 | BARD1 | c.*114_*118del (n.*114_*118del) c.591_595del n.783_787del n.2441_2445del n.2384_2388del n.1640_1644del n.2814_2818del n.2413_2417del n.2356_2360del n.1612_1616del | gnomAD v3 gnomAD v4 |
2 | g.214728558_214728559insTTTTT | CA539534890 | BARD1 | c.*117_*118insAAAAA (n.*117_*118insAAAAA) c.594_595insAAAAA n.786_787insAAAAA n.2444_2445insAAAAA n.2387_2388insAAAAA n.1643_1644insAAAAA n.2817_2818insAAAAA n.2416_2417insAAAAA n.2359_2360insAAAAA n.1615_1616insAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |