| 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.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= | |
| 2 | g.214728669A>C | CA2662969928 | BARD1 | c.*7T>G (n.*7T>G) c.3716T>G c.484T>G n.676T>G n.2334T>G n.2277T>G n.1533T>G n.2707T>G n.2306T>G n.2249T>G n.1505T>G | gnomAD v4 |
| 2 | g.214728669A>G | CA1327045425 | BARD1 | c.*7T>C (n.*7T>C) c.3716T>C c.484T>C n.676T>C n.2334T>C n.2277T>C n.1533T>C n.2707T>C n.2306T>C n.2249T>C n.1505T>C | dbSNP gnomAD v4 |
| 2 | g.214728672A>C | CA2662969930 | BARD1 | c.*4T>G (n.*4T>G) c.3713T>G c.481T>G n.673T>G n.2331T>G n.2274T>G n.1530T>G n.2704T>G n.2303T>G n.2246T>G n.1502T>G | gnomAD v4 |
| 2 | g.214728673T>C | CA2662969932 | BARD1 | c.*3A>G (n.*3A>G) c.3712A>G c.480A>G n.672A>G n.2330A>G n.2273A>G n.1529A>G n.2703A>G n.2302A>G n.2245A>G n.1501A>G | gnomAD v4 |
| 2 | g.214728674_214731010del | CA2499215601 | BARD1 | c.1904-502_*2del c.494-502_*2del c.1496-502_*2del c.1847-502_*2del c.365-502_*2del c.3279-502_3711del n.136_671del c.551-502_*2del n.1897-502_2329del n.1840-502_2272del n.1096-502_1528del c.1850-502_*2del c.2003-502_*2del n.2094-502_2702del n.1869-502_2301del n.1812-502_2244del n.1068-502_1500del | ClinVar |
| 2 | g.214728675T>C | CA539837272 | BARD1 | c.*1A>G (n.*1A>G) c.3710A>G c.478A>G n.670A>G n.2328A>G n.2271A>G n.1527A>G n.2701A>G n.2300A>G n.2243A>G n.1499A>G | dbSNP gnomAD v2 |
| 2 | g.214728675T= | CA1327045427 | BARD1 | c.*1A= (n.*1A=) c.3710A= c.478A= n.670A= n.2328A= n.2271A= n.1527A= n.2701A= n.2300A= n.2243A= n.1499A= | |
| 2 | g.214728676T>A | CA350449594 | BARD1 | c.2334A>T (p.Ter778Cys) c.981A>T (p.Ter327Cys) c.*397A>T (n.*397A>T) c.924A>T (p.Ter308Cys) c.1926A>T (p.Ter642Cys) c.2277A>T (p.Ter759Cys) c.795A>T (p.Ter265Cys) c.3709A>T c.477A>T n.669A>T c.504A>T (p.Ter168Cys) n.2327A>T n.2270A>T n.1526A>T c.2280A>T (p.Ter760Cys) c.2433A>T (p.Ter811Cys) n.2700A>T n.2299A>T n.2242A>T n.1498A>T | |
| 2 | g.214728676T>C | CA350449597 | BARD1 | c.2334A>G (p.Ter778Trp) c.981A>G (p.Ter327Trp) c.*397A>G (n.*397A>G) c.924A>G (p.Ter308Trp) c.1926A>G (p.Ter642Trp) c.2277A>G (p.Ter759Trp) c.795A>G (p.Ter265Trp) c.3709A>G c.477A>G n.669A>G c.504A>G (p.Ter168Trp) n.2327A>G n.2270A>G n.1526A>G c.2280A>G (p.Ter760Trp) c.2433A>G (p.Ter811Trp) n.2700A>G n.2299A>G n.2242A>G n.1498A>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.214728676T>G | CA350449600 | BARD1 | c.2334A>C (p.Ter778Cys) c.981A>C (p.Ter327Cys) c.*397A>C (n.*397A>C) c.924A>C (p.Ter308Cys) c.1926A>C (p.Ter642Cys) c.2277A>C (p.Ter759Cys) c.795A>C (p.Ter265Cys) c.3709A>C c.477A>C n.669A>C c.504A>C (p.Ter168Cys) n.2327A>C n.2270A>C n.1526A>C c.2280A>C (p.Ter760Cys) c.2433A>C (p.Ter811Cys) n.2700A>C n.2299A>C n.2242A>C n.1498A>C | ClinVar dbSNP |
| 2 | g.214728676T= | CA1327045428 | BARD1 | c.2334A= (p.Ter778=) c.981A= (p.Ter327=) c.*397A= (n.*397A=) c.924A= (p.Ter308=) c.1926A= (p.Ter642=) c.2277A= (p.Ter759=) c.795A= (p.Ter265=) c.3709A= c.477A= n.669A= c.504A= (p.Ter168=) n.2327A= n.2270A= n.1526A= c.2280A= (p.Ter760=) c.2433A= (p.Ter811=) n.2700A= n.2299A= n.2242A= n.1498A= | |
| 2 | g.214728677C>A | CA350449602 | BARD1 | c.2333G>T (p.Ter778Leu) c.980G>T (p.Ter327Leu) c.*396G>T (n.*396G>T) c.923G>T (p.Ter308Leu) c.1925G>T (p.Ter642Leu) c.2276G>T (p.Ter759Leu) c.794G>T (p.Ter265Leu) c.3708G>T c.476G>T n.668G>T c.503G>T (p.Ter168Leu) c.*999G>T (n.*999G>T) n.2326G>T n.2269G>T n.1525G>T c.2279G>T (p.Ter760Leu) c.2432G>T (p.Ter811Leu) n.2699G>T n.2298G>T n.2241G>T n.1497G>T | |
| 2 | g.214728677C= | CA1327045429 | BARD1 | c.2333G= (p.Ter778=) c.980G= (p.Ter327=) c.*396G= (n.*396G=) c.923G= (p.Ter308=) c.1925G= (p.Ter642=) c.2276G= (p.Ter759=) c.794G= (p.Ter265=) c.3708G= c.476G= n.668G= c.503G= (p.Ter168=) c.*999G= (n.*999G=) n.2326G= n.2269G= n.1525G= c.2279G= (p.Ter760=) c.2432G= (p.Ter811=) n.2699G= n.2298G= n.2241G= n.1497G= | |
| 2 | g.214728677C>G | CA350449604 | BARD1 | c.2333G>C (p.Ter778Ser) c.980G>C (p.Ter327Ser) c.*396G>C (n.*396G>C) c.923G>C (p.Ter308Ser) c.1925G>C (p.Ter642Ser) c.2276G>C (p.Ter759Ser) c.794G>C (p.Ter265Ser) c.3708G>C c.476G>C n.668G>C c.503G>C (p.Ter168Ser) c.*999G>C (n.*999G>C) n.2326G>C n.2269G>C n.1525G>C c.2279G>C (p.Ter760Ser) c.2432G>C (p.Ter811Ser) n.2699G>C n.2298G>C n.2241G>C n.1497G>C | ClinVar dbSNP |
| 2 | g.214728677C>T | CA2090048 | BARD1 | c.2333G>A (p.Ter778=) c.980G>A (p.Ter327=) c.*396G>A (n.*396G>A) c.923G>A (p.Ter308=) c.1925G>A (p.Ter642=) c.2276G>A (p.Ter759=) c.794G>A (p.Ter265=) c.3708G>A c.476G>A n.668G>A c.503G>A (p.Ter168=) c.*999G>A (n.*999G>A) n.2326G>A n.2269G>A n.1525G>A c.2279G>A (p.Ter760=) c.2432G>A (p.Ter811=) n.2699G>A n.2298G>A n.2241G>A n.1497G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214728678A= | CA1327045430 | BARD1 | c.2332T= (p.Ter778=) c.979T= (p.Ter327=) c.*395T= (n.*395T=) c.922T= (p.Ter308=) c.1924T= (p.Ter642=) c.2275T= (p.Ter759=) c.793T= (p.Ter265=) c.3707T= c.475T= n.667T= c.502T= (p.Ter168=) c.*998T= (n.*998T=) n.2325T= n.2268T= n.1524T= c.2278T= (p.Ter760=) c.2431T= (p.Ter811=) n.2698T= n.2297T= n.2240T= n.1496T= | |
| 2 | g.214728678A>C | CA350449608 | BARD1 | c.2332T>G (p.Ter778Gly) c.979T>G (p.Ter327Gly) c.*395T>G (n.*395T>G) c.922T>G (p.Ter308Gly) c.1924T>G (p.Ter642Gly) c.2275T>G (p.Ter759Gly) c.793T>G (p.Ter265Gly) c.3707T>G c.475T>G n.667T>G c.502T>G (p.Ter168Gly) c.*998T>G (n.*998T>G) n.2325T>G n.2268T>G n.1524T>G c.2278T>G (p.Ter760Gly) c.2431T>G (p.Ter811Gly) n.2698T>G n.2297T>G n.2240T>G n.1496T>G | |
| 2 | g.214728678A>G | CA196342 | BARD1 | c.2332T>C (p.Ter778Arg) c.979T>C (p.Ter327Arg) c.*395T>C (n.*395T>C) c.922T>C (p.Ter308Arg) c.1924T>C (p.Ter642Arg) c.2275T>C (p.Ter759Arg) c.793T>C (p.Ter265Arg) c.3707T>C c.475T>C n.667T>C c.502T>C (p.Ter168Arg) c.*998T>C (n.*998T>C) n.2325T>C n.2268T>C n.1524T>C c.2278T>C (p.Ter760Arg) c.2431T>C (p.Ter811Arg) n.2698T>C n.2297T>C n.2240T>C n.1496T>C | ClinVar dbSNP |
| 2 | g.214728678A>T | CA350449611 | BARD1 | c.2332T>A (p.Ter778Arg) c.979T>A (p.Ter327Arg) c.*395T>A (n.*395T>A) c.922T>A (p.Ter308Arg) c.1924T>A (p.Ter642Arg) c.2275T>A (p.Ter759Arg) c.793T>A (p.Ter265Arg) c.3707T>A c.475T>A n.667T>A c.502T>A (p.Ter168Arg) c.*998T>A (n.*998T>A) n.2325T>A n.2268T>A n.1524T>A c.2278T>A (p.Ter760Arg) c.2431T>A (p.Ter811Arg) n.2698T>A n.2297T>A n.2240T>A n.1496T>A | |
| 2 | g.214728679G>A | CA431392326 | BARD1 | c.2331C>T (p.Ser777=) c.978C>T (p.Ser326=) c.*394C>T (n.*394C>T) c.921C>T (p.Ser307=) c.1923C>T (p.Ser641=) c.2274C>T (p.Ser758=) c.792C>T (p.Ser264=) c.3706C>T c.474C>T n.666C>T c.501C>T (p.Ser167=) c.*997C>T (n.*997C>T) n.2324C>T n.2267C>T n.1523C>T c.2277C>T (p.Ser759=) c.2430C>T (p.Ser810=) n.2697C>T n.2296C>T n.2239C>T n.1495C>T | ClinVar dbSNP |
| 2 | g.214728679G>C | CA350449617 | BARD1 | c.2331C>G (p.Ser777Arg) c.978C>G (p.Ser326Arg) c.*394C>G (n.*394C>G) c.921C>G (p.Ser307Arg) c.1923C>G (p.Ser641Arg) c.2274C>G (p.Ser758Arg) c.792C>G (p.Ser264Arg) c.3706C>G c.474C>G n.666C>G c.501C>G (p.Ser167Arg) c.*997C>G (n.*997C>G) n.2324C>G n.2267C>G n.1523C>G c.2277C>G (p.Ser759Arg) c.2430C>G (p.Ser810Arg) n.2697C>G n.2296C>G n.2239C>G n.1495C>G | ClinVar |
| 2 | g.214728679G= | CA1327045431 | BARD1 | c.2331C= (p.Ser777=) c.978C= (p.Ser326=) c.*394C= (n.*394C=) c.921C= (p.Ser307=) c.1923C= (p.Ser641=) c.2274C= (p.Ser758=) c.792C= (p.Ser264=) c.3706C= c.474C= n.666C= c.501C= (p.Ser167=) c.*997C= (n.*997C=) n.2324C= n.2267C= n.1523C= c.2277C= (p.Ser759=) c.2430C= (p.Ser810=) n.2697C= n.2296C= n.2239C= n.1495C= | |
| 2 | g.214728679G>T | CA350449614 | BARD1 | c.2331C>A (p.Ser777Arg) c.978C>A (p.Ser326Arg) c.*394C>A (n.*394C>A) c.921C>A (p.Ser307Arg) c.1923C>A (p.Ser641Arg) c.2274C>A (p.Ser758Arg) c.792C>A (p.Ser264Arg) c.3706C>A c.474C>A n.666C>A c.501C>A (p.Ser167Arg) c.*997C>A (n.*997C>A) n.2324C>A n.2267C>A n.1523C>A c.2277C>A (p.Ser759Arg) c.2430C>A (p.Ser810Arg) n.2697C>A n.2296C>A n.2239C>A n.1495C>A | |
| 2 | g.214728680C>A | CA350449620 | BARD1 | c.2330G>T (p.Ser777Ile) c.977G>T (p.Ser326Ile) c.*393G>T (n.*393G>T) c.920G>T (p.Ser307Ile) c.1922G>T (p.Ser641Ile) c.2273G>T (p.Ser758Ile) c.791G>T (p.Ser264Ile) c.3705G>T c.473G>T n.665G>T c.500G>T (p.Ser167Ile) c.*996G>T (n.*996G>T) n.2323G>T n.2266G>T n.1522G>T c.2276G>T (p.Ser759Ile) c.2429G>T (p.Ser810Ile) n.2696G>T n.2295G>T n.2238G>T n.1494G>T | |
| 2 | g.214728680C= | CA1327045432 | BARD1 | c.2330G= (p.Ser777=) c.977G= (p.Ser326=) c.*393G= (n.*393G=) c.920G= (p.Ser307=) c.1922G= (p.Ser641=) c.2273G= (p.Ser758=) c.791G= (p.Ser264=) c.3705G= c.473G= n.665G= c.500G= (p.Ser167=) c.*996G= (n.*996G=) n.2323G= n.2266G= n.1522G= c.2276G= (p.Ser759=) c.2429G= (p.Ser810=) n.2696G= n.2295G= n.2238G= n.1494G= | |
| 2 | g.214728680C>G | CA350449623 | BARD1 | c.2330G>C (p.Ser777Thr) c.977G>C (p.Ser326Thr) c.*393G>C (n.*393G>C) c.920G>C (p.Ser307Thr) c.1922G>C (p.Ser641Thr) c.2273G>C (p.Ser758Thr) c.791G>C (p.Ser264Thr) c.3705G>C c.473G>C n.665G>C c.500G>C (p.Ser167Thr) c.*996G>C (n.*996G>C) n.2323G>C n.2266G>C n.1522G>C c.2276G>C (p.Ser759Thr) c.2429G>C (p.Ser810Thr) n.2696G>C n.2295G>C n.2238G>C n.1494G>C | |
| 2 | g.214728680C>T | CA350449626 | BARD1 | c.2330G>A (p.Ser777Asn) c.977G>A (p.Ser326Asn) c.*393G>A (n.*393G>A) c.920G>A (p.Ser307Asn) c.1922G>A (p.Ser641Asn) c.2273G>A (p.Ser758Asn) c.791G>A (p.Ser264Asn) c.3705G>A c.473G>A n.665G>A c.500G>A (p.Ser167Asn) c.*996G>A (n.*996G>A) n.2323G>A n.2266G>A n.1522G>A c.2276G>A (p.Ser759Asn) c.2429G>A (p.Ser810Asn) n.2696G>A n.2295G>A n.2238G>A n.1494G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.214728681T>A | CA350449628 | BARD1 | c.2329A>T (p.Ser777Cys) c.976A>T (p.Ser326Cys) c.*392A>T (n.*392A>T) c.919A>T (p.Ser307Cys) c.1921A>T (p.Ser641Cys) c.2272A>T (p.Ser758Cys) c.790A>T (p.Ser264Cys) c.3704A>T c.472A>T n.664A>T c.499A>T (p.Ser167Cys) c.*995A>T (n.*995A>T) n.2322A>T n.2265A>T n.1521A>T c.2275A>T (p.Ser759Cys) c.2428A>T (p.Ser810Cys) n.2695A>T n.2294A>T n.2237A>T n.1493A>T | |
| 2 | g.214728681T>C | CA350449631 | BARD1 | c.2329A>G (p.Ser777Gly) c.976A>G (p.Ser326Gly) c.*392A>G (n.*392A>G) c.919A>G (p.Ser307Gly) c.1921A>G (p.Ser641Gly) c.2272A>G (p.Ser758Gly) c.790A>G (p.Ser264Gly) c.3704A>G c.472A>G n.664A>G c.499A>G (p.Ser167Gly) c.*995A>G (n.*995A>G) n.2322A>G n.2265A>G n.1521A>G c.2275A>G (p.Ser759Gly) c.2428A>G (p.Ser810Gly) n.2695A>G n.2294A>G n.2237A>G n.1493A>G | |
| 2 | g.214728681T>G | CA350449633 | BARD1 | c.2329A>C (p.Ser777Arg) c.976A>C (p.Ser326Arg) c.*392A>C (n.*392A>C) c.919A>C (p.Ser307Arg) c.1921A>C (p.Ser641Arg) c.2272A>C (p.Ser758Arg) c.790A>C (p.Ser264Arg) c.3704A>C c.472A>C n.664A>C c.499A>C (p.Ser167Arg) c.*995A>C (n.*995A>C) n.2322A>C n.2265A>C n.1521A>C c.2275A>C (p.Ser759Arg) c.2428A>C (p.Ser810Arg) n.2695A>C n.2294A>C n.2237A>C n.1493A>C | ClinVar dbSNP |
| 2 | g.214728681T= | CA1327045433 | BARD1 | c.2329A= (p.Ser777=) c.976A= (p.Ser326=) c.*392A= (n.*392A=) c.919A= (p.Ser307=) c.1921A= (p.Ser641=) c.2272A= (p.Ser758=) c.790A= (p.Ser264=) c.3704A= c.472A= n.664A= c.499A= (p.Ser167=) c.*995A= (n.*995A=) n.2322A= n.2265A= n.1521A= c.2275A= (p.Ser759=) c.2428A= (p.Ser810=) n.2695A= n.2294A= n.2237A= n.1493A= | |
| 2 | g.214728682G>A | CA338634 | BARD1 | c.2328C>T (p.Asp776=) c.975C>T (p.Asp325=) c.*391C>T (n.*391C>T) c.918C>T (p.Asp306=) c.1920C>T (p.Asp640=) c.2271C>T (p.Asp757=) c.789C>T (p.Asp263=) c.3703C>T c.471C>T n.663C>T c.498C>T (p.Asp166=) c.*994C>T (n.*994C>T) n.2321C>T n.2264C>T n.1520C>T c.2274C>T (p.Asp758=) c.2427C>T (p.Asp809=) n.2694C>T n.2293C>T n.2236C>T n.1492C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.214728682G>C | CA350449638 | BARD1 | c.2328C>G (p.Asp776Glu) c.975C>G (p.Asp325Glu) c.*391C>G (n.*391C>G) c.918C>G (p.Asp306Glu) c.1920C>G (p.Asp640Glu) c.2271C>G (p.Asp757Glu) c.789C>G (p.Asp263Glu) c.3703C>G c.471C>G n.663C>G c.498C>G (p.Asp166Glu) c.*994C>G (n.*994C>G) n.2321C>G n.2264C>G n.1520C>G c.2274C>G (p.Asp758Glu) c.2427C>G (p.Asp809Glu) n.2694C>G n.2293C>G n.2236C>G n.1492C>G | |
| 2 | g.214728682G= | CA1327045434 | BARD1 | c.2328C= (p.Asp776=) c.975C= (p.Asp325=) c.*391C= (n.*391C=) c.918C= (p.Asp306=) c.1920C= (p.Asp640=) c.2271C= (p.Asp757=) c.789C= (p.Asp263=) c.3703C= c.471C= n.663C= c.498C= (p.Asp166=) c.*994C= (n.*994C=) n.2321C= n.2264C= n.1520C= c.2274C= (p.Asp758=) c.2427C= (p.Asp809=) n.2694C= n.2293C= n.2236C= n.1492C= | |
| 2 | g.214728682G>T | CA350449639 | BARD1 | c.2328C>A (p.Asp776Glu) c.975C>A (p.Asp325Glu) c.*391C>A (n.*391C>A) c.918C>A (p.Asp306Glu) c.1920C>A (p.Asp640Glu) c.2271C>A (p.Asp757Glu) c.789C>A (p.Asp263Glu) c.3703C>A c.471C>A n.663C>A c.498C>A (p.Asp166Glu) c.*994C>A (n.*994C>A) n.2321C>A n.2264C>A n.1520C>A c.2274C>A (p.Asp758Glu) c.2427C>A (p.Asp809Glu) n.2694C>A n.2293C>A n.2236C>A n.1492C>A | |
| 2 | g.214728683T>A | CA350449641 | BARD1 | c.2327A>T (p.Asp776Val) c.974A>T (p.Asp325Val) c.*390A>T (n.*390A>T) c.917A>T (p.Asp306Val) c.1919A>T (p.Asp640Val) c.2270A>T (p.Asp757Val) c.788A>T (p.Asp263Val) c.3702A>T c.470A>T n.662A>T c.497A>T (p.Asp166Val) c.*993A>T (n.*993A>T) n.2320A>T n.2263A>T n.1519A>T c.2273A>T (p.Asp758Val) c.2426A>T (p.Asp809Val) n.2693A>T n.2292A>T n.2235A>T n.1491A>T | |
| 2 | g.214728683T>C | CA350449644 | BARD1 | c.2327A>G (p.Asp776Gly) c.974A>G (p.Asp325Gly) c.*390A>G (n.*390A>G) c.917A>G (p.Asp306Gly) c.1919A>G (p.Asp640Gly) c.2270A>G (p.Asp757Gly) c.788A>G (p.Asp263Gly) c.3702A>G c.470A>G n.662A>G c.497A>G (p.Asp166Gly) c.*993A>G (n.*993A>G) n.2320A>G n.2263A>G n.1519A>G c.2273A>G (p.Asp758Gly) c.2426A>G (p.Asp809Gly) n.2693A>G n.2292A>G n.2235A>G n.1491A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.214728683T>G | CA350449647 | BARD1 | c.2327A>C (p.Asp776Ala) c.974A>C (p.Asp325Ala) c.*390A>C (n.*390A>C) c.917A>C (p.Asp306Ala) c.1919A>C (p.Asp640Ala) c.2270A>C (p.Asp757Ala) c.788A>C (p.Asp263Ala) c.3702A>C c.470A>C n.662A>C c.497A>C (p.Asp166Ala) c.*993A>C (n.*993A>C) n.2320A>C n.2263A>C n.1519A>C c.2273A>C (p.Asp758Ala) c.2426A>C (p.Asp809Ala) n.2693A>C n.2292A>C n.2235A>C n.1491A>C | |
| 2 | g.214728683T= | CA1327045435 | BARD1 | c.2327A= (p.Asp776=) c.974A= (p.Asp325=) c.*390A= (n.*390A=) c.917A= (p.Asp306=) c.1919A= (p.Asp640=) c.2270A= (p.Asp757=) c.788A= (p.Asp263=) c.3702A= c.470A= n.662A= c.497A= (p.Asp166=) c.*993A= (n.*993A=) n.2320A= n.2263A= n.1519A= c.2273A= (p.Asp758=) c.2426A= (p.Asp809=) n.2693A= n.2292A= n.2235A= n.1491A= | |
| 2 | g.214728684C>A | CA350449655 | BARD1 | c.2326G>T (p.Asp776Tyr) c.973G>T (p.Asp325Tyr) c.*389G>T (n.*389G>T) c.916G>T (p.Asp306Tyr) c.1918G>T (p.Asp640Tyr) c.2269G>T (p.Asp757Tyr) c.787G>T (p.Asp263Tyr) c.3701G>T c.469G>T n.661G>T c.496G>T (p.Asp166Tyr) c.*992G>T (n.*992G>T) n.2319G>T n.2262G>T n.1518G>T c.2272G>T (p.Asp758Tyr) c.2425G>T (p.Asp809Tyr) n.2692G>T n.2291G>T n.2234G>T n.1490G>T | |
| 2 | g.214728684C= | CA1327045437 | BARD1 | c.2326G= (p.Asp776=) c.973G= (p.Asp325=) c.*389G= (n.*389G=) c.916G= (p.Asp306=) c.1918G= (p.Asp640=) c.2269G= (p.Asp757=) c.787G= (p.Asp263=) c.3701G= c.469G= n.661G= c.496G= (p.Asp166=) c.*992G= (n.*992G=) n.2319G= n.2262G= n.1518G= c.2272G= (p.Asp758=) c.2425G= (p.Asp809=) n.2692G= n.2291G= n.2234G= n.1490G= |