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.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.214728563C>A | CA1042200997 | BARD1 | c.*113G>T (n.*113G>T) c.590G>T n.782G>T n.2440G>T n.2383G>T n.1639G>T n.2813G>T n.2412G>T n.2355G>T n.1611G>T | gnomAD v3 gnomAD v4 |
2 | g.214728563C>T | CA1042200999 | BARD1 | c.*113G>A (n.*113G>A) c.590G>A n.782G>A n.2440G>A n.2383G>A n.1639G>A n.2813G>A n.2412G>A n.2355G>A n.1611G>A | gnomAD v3 gnomAD v4 |
2 | g.214728564A>C | CA1042201005 | BARD1 | c.*112T>G (n.*112T>G) c.589T>G n.781T>G n.2439T>G n.2382T>G n.1638T>G n.2812T>G n.2411T>G n.2354T>G n.1610T>G | gnomAD v3 gnomAD v4 |
2 | g.214728564A>T | CA1042201002 | BARD1 | c.*112T>A (n.*112T>A) c.589T>A n.781T>A n.2439T>A n.2382T>A n.1638T>A n.2812T>A n.2411T>A n.2354T>A n.1610T>A | gnomAD v3 gnomAD v4 |
2 | g.214728564_214728565insTTTTTT | CA1042201013 | BARD1 | c.*111_*112insAAAAAA (n.*111_*112insAAAAAA) c.588_589insAAAAAA n.780_781insAAAAAA n.2438_2439insAAAAAA n.2381_2382insAAAAAA n.1637_1638insAAAAAA n.2811_2812insAAAAAA n.2410_2411insAAAAAA n.2353_2354insAAAAAA n.1609_1610insAAAAAA | gnomAD v3 gnomAD v4 |
2 | g.214728565A= | CA1327045382 | BARD1 | c.*111T= (n.*111T=) c.588T= n.780T= n.2438T= n.2381T= n.1637T= n.2811T= n.2410T= n.2353T= n.1609T= | |
2 | g.214728565A>G | CA764557319 | BARD1 | c.*111T>C (n.*111T>C) c.588T>C n.780T>C n.2438T>C n.2381T>C n.1637T>C n.2811T>C n.2410T>C n.2353T>C n.1609T>C | dbSNP |
2 | g.214728565A>T | CA1042201019 | BARD1 | c.*111T>A (n.*111T>A) c.588T>A n.780T>A n.2438T>A n.2381T>A n.1637T>A n.2811T>A n.2410T>A n.2353T>A n.1609T>A | |
2 | g.214728565_214728566insTTTT | CA1042201027 | BARD1 | c.*110_*111insAAAA (n.*110_*111insAAAA) c.587_588insAAAA n.779_780insAAAA n.2437_2438insAAAA n.2380_2381insAAAA n.1636_1637insAAAA n.2810_2811insAAAA n.2409_2410insAAAA n.2352_2353insAAAA n.1608_1609insAAAA | gnomAD v3 gnomAD v4 |
2 | g.214728566A= | CA1327045383 | BARD1 | c.*110T= (n.*110T=) c.587T= n.779T= n.2437T= n.2380T= n.1636T= n.2810T= n.2409T= n.2352T= n.1608T= | |
2 | g.214728566A>C | CA64792524 | BARD1 | c.*110T>G (n.*110T>G) c.587T>G n.779T>G n.2437T>G n.2380T>G n.1636T>G n.2810T>G n.2409T>G n.2352T>G n.1608T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728566A>G | CA64792520 | BARD1 | c.*110T>C (n.*110T>C) c.587T>C n.779T>C n.2437T>C n.2380T>C n.1636T>C n.2810T>C n.2409T>C n.2352T>C n.1608T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728566A>T | CA1042201029 | BARD1 | c.*110T>A (n.*110T>A) c.587T>A n.779T>A n.2437T>A n.2380T>A n.1636T>A n.2810T>A n.2409T>A n.2352T>A n.1608T>A | gnomAD v3 gnomAD v4 |
2 | g.214728567T>A | CA1042201035 | BARD1 | c.*109A>T (n.*109A>T) c.586A>T n.778A>T n.2436A>T n.2379A>T n.1635A>T n.2809A>T n.2408A>T n.2351A>T n.1607A>T | gnomAD v3 gnomAD v4 |
2 | g.214728567T>C | CA2662969802 | BARD1 | c.*109A>G (n.*109A>G) c.586A>G n.778A>G n.2436A>G n.2379A>G n.1635A>G n.2809A>G n.2408A>G n.2351A>G n.1607A>G | gnomAD v4 |
2 | g.214728567T>G | CA2662969803 | BARD1 | c.*109A>C (n.*109A>C) c.586A>C n.778A>C n.2436A>C n.2379A>C n.1635A>C n.2809A>C n.2408A>C n.2351A>C n.1607A>C | gnomAD v4 |
2 | g.214728567_214728568insTTTTT | CA1042201037 | BARD1 | c.*109_*110insAAAAA (n.*109_*110insAAAAA) c.586_587insAAAAA n.778_779insAAAAA n.2436_2437insAAAAA n.2379_2380insAAAAA n.1635_1636insAAAAA n.2809_2810insAAAAA n.2408_2409insAAAAA n.2351_2352insAAAAA n.1607_1608insAAAAA | gnomAD v3 gnomAD v4 |
2 | g.214728567dup | CA1042201033 | BARD1 | c.*109dup (n.*109dup) c.586dup n.778dup n.2436dup n.2379dup n.1635dup n.2809dup n.2408dup n.2351dup n.1607dup | gnomAD v3 gnomAD v4 |
2 | g.214728568A>C | CA2662969805 | BARD1 | c.*108T>G (n.*108T>G) c.585T>G n.777T>G n.2435T>G n.2378T>G n.1634T>G n.2808T>G n.2407T>G n.2350T>G n.1606T>G | gnomAD v4 |
2 | g.214728568A>G | CA2662969806 | BARD1 | c.*108T>C (n.*108T>C) c.585T>C n.777T>C n.2435T>C n.2378T>C n.1634T>C n.2808T>C n.2407T>C n.2350T>C n.1606T>C | gnomAD v4 |
2 | g.214728568A>T | CA1042201043 | BARD1 | c.*108T>A (n.*108T>A) c.585T>A n.777T>A n.2435T>A n.2378T>A n.1634T>A n.2808T>A n.2407T>A n.2350T>A n.1606T>A | gnomAD v3 gnomAD v4 |
2 | g.214728569T>A | CA2662969808 | BARD1 | c.*107A>T (n.*107A>T) c.584A>T n.776A>T n.2434A>T n.2377A>T n.1633A>T n.2807A>T n.2406A>T n.2349A>T n.1605A>T | gnomAD v4 |
2 | g.214728569T>C | CA764557326 | BARD1 | c.*107A>G (n.*107A>G) c.584A>G n.776A>G n.2434A>G n.2377A>G n.1633A>G n.2807A>G n.2406A>G n.2349A>G n.1605A>G | dbSNP |
2 | g.214728569T>G | CA2662969809 | BARD1 | c.*107A>C (n.*107A>C) c.584A>C n.776A>C n.2434A>C n.2377A>C n.1633A>C n.2807A>C n.2406A>C n.2349A>C n.1605A>C | gnomAD v4 |
2 | g.214728569T= | CA1327045384 | BARD1 | c.*107A= (n.*107A=) c.584A= n.776A= n.2434A= n.2377A= n.1633A= n.2807A= n.2406A= n.2349A= n.1605A= | |
2 | g.214728570G>A | CA1042201057 | BARD1 | c.*106C>T (n.*106C>T) c.583C>T n.775C>T n.2433C>T n.2376C>T n.1632C>T n.2806C>T n.2405C>T n.2348C>T n.1604C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728570G>C | CA2662969810 | BARD1 | c.*106C>G (n.*106C>G) c.583C>G n.775C>G n.2433C>G n.2376C>G n.1632C>G n.2806C>G n.2405C>G n.2348C>G n.1604C>G | gnomAD v4 |
2 | g.214728570G= | CA1327045385 | BARD1 | c.*106C= (n.*106C=) c.583C= n.775C= n.2433C= n.2376C= n.1632C= n.2806C= n.2405C= n.2348C= n.1604C= | |
2 | g.214728570G>T | CA1042201060 | BARD1 | c.*106C>A (n.*106C>A) c.583C>A n.775C>A n.2433C>A n.2376C>A n.1632C>A n.2806C>A n.2405C>A n.2348C>A n.1604C>A | gnomAD v3 gnomAD v4 |
2 | g.214728570_214728571insTTT | CA1042201068 | BARD1 | c.*105_*106insAAA (n.*105_*106insAAA) c.582_583insAAA n.774_775insAAA n.2432_2433insAAA n.2375_2376insAAA n.1631_1632insAAA n.2805_2806insAAA n.2404_2405insAAA n.2347_2348insAAA n.1603_1604insAAA | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728571A= | CA1327045386 | BARD1 | c.*105T= (n.*105T=) c.3814T= c.582T= n.774T= n.2432T= n.2375T= n.1631T= n.2805T= n.2404T= n.2347T= n.1603T= | |
2 | g.214728571A>C | CA2662969813 | BARD1 | c.*105T>G (n.*105T>G) c.3814T>G c.582T>G n.774T>G n.2432T>G n.2375T>G n.1631T>G n.2805T>G n.2404T>G n.2347T>G n.1603T>G | gnomAD v4 |
2 | g.214728571A>T | CA764557332 | BARD1 | c.*105T>A (n.*105T>A) c.3814T>A c.582T>A n.774T>A n.2432T>A n.2375T>A n.1631T>A n.2805T>A n.2404T>A n.2347T>A n.1603T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728572A>T | CA1042201078 | BARD1 | c.*104T>A (n.*104T>A) c.3813T>A c.581T>A n.773T>A n.2431T>A n.2374T>A n.1630T>A n.2804T>A n.2403T>A n.2346T>A n.1602T>A | gnomAD v3 gnomAD v4 |
2 | g.214728573T>A | CA2662969814 | BARD1 | c.*103A>T (n.*103A>T) c.3812A>T c.580A>T n.772A>T n.2430A>T n.2373A>T n.1629A>T n.2803A>T n.2402A>T n.2345A>T n.1601A>T | gnomAD v4 |
2 | g.214728573T>G | CA2662969815 | BARD1 | c.*103A>C (n.*103A>C) c.3812A>C c.580A>C n.772A>C n.2430A>C n.2373A>C n.1629A>C n.2803A>C n.2402A>C n.2345A>C n.1601A>C | gnomAD v4 |
2 | g.214728573_214728574insTTTTTT | CA1042201083 | BARD1 | c.*103_*104insAAAAAA (n.*103_*104insAAAAAA) c.3812_3813insAAAAAA c.580_581insAAAAAA n.772_773insAAAAAA n.2430_2431insAAAAAA n.2373_2374insAAAAAA n.1629_1630insAAAAAA n.2803_2804insAAAAAA n.2402_2403insAAAAAA n.2345_2346insAAAAAA n.1601_1602insAAAAAA | gnomAD v3 gnomAD v4 |
2 | g.214728574G>A | CA2662969816 | BARD1 | c.*102C>T (n.*102C>T) c.3811C>T c.579C>T n.771C>T n.2429C>T n.2372C>T n.1628C>T n.2802C>T n.2401C>T n.2344C>T n.1600C>T | gnomAD v4 |
2 | g.214728574G>C | CA539534894 | BARD1 | c.*102C>G (n.*102C>G) c.3811C>G c.579C>G n.771C>G n.2429C>G n.2372C>G n.1628C>G n.2802C>G n.2401C>G n.2344C>G n.1600C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728574G= | CA1327045387 | BARD1 | c.*102C= (n.*102C=) c.3811C= c.579C= n.771C= n.2429C= n.2372C= n.1628C= n.2802C= n.2401C= n.2344C= n.1600C= | |
2 | g.214728574G>T | CA1042201085 | BARD1 | c.*102C>A (n.*102C>A) c.3811C>A c.579C>A n.771C>A n.2429C>A n.2372C>A n.1628C>A n.2802C>A n.2401C>A n.2344C>A n.1600C>A | gnomAD v3 gnomAD v4 |
2 | g.214728575A>C | CA2662969817 | BARD1 | c.*101T>G (n.*101T>G) c.3810T>G c.578T>G n.770T>G n.2428T>G n.2371T>G n.1627T>G n.2801T>G n.2400T>G n.2343T>G n.1599T>G | gnomAD v4 |
2 | g.214728575A>T | CA1042201086 | BARD1 | c.*101T>A (n.*101T>A) c.3810T>A c.578T>A n.770T>A n.2428T>A n.2371T>A n.1627T>A n.2801T>A n.2400T>A n.2343T>A n.1599T>A | gnomAD v3 gnomAD v4 |
2 | g.214728575_214728577delinsACT | CA1327045388 | BARD1 | c.*99_*101delinsAGT (n.*99_*101delinsAGT) c.3808_3810delinsAGT c.576_578delinsAGT n.768_770delinsAGT n.2426_2428delinsAGT n.2369_2371delinsAGT n.1625_1627delinsAGT n.2799_2801delinsAGT n.2398_2400delinsAGT n.2341_2343delinsAGT n.1597_1599delinsAGT |