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.214728516_214728547del | CA2662969609 | BARD1 | c.*129_*160del (n.*129_*160del) n.798_829del n.2456_2487del n.2399_2430del n.1655_1686del n.2428_2459del n.2371_2402del n.1627_1658del | gnomAD v4 |
2 | g.214728537_214728538delinsCT | CA2497029600 | BARD1 | c.*138_*139delinsAG (n.*138_*139delinsAG) n.807_808delinsAG n.2465_2466delinsAG n.2408_2409delinsAG n.1664_1665delinsAG n.2437_2438delinsAG n.2380_2381delinsAG n.1636_1637delinsAG | |
2 | g.214728537_214728540delinsCTTT | CA1327045364 | BARD1 | c.*136_*139delinsAAAG (n.*136_*139delinsAAAG) n.805_808delinsAAAG n.2463_2466delinsAAAG n.2406_2409delinsAAAG n.1662_1665delinsAAAG n.2435_2438delinsAAAG n.2378_2381delinsAAAG n.1634_1637delinsAAAG | |
2 | g.214728538T>A | CA1327045366 | BARD1 | c.*138A>T (n.*138A>T) c.615A>T n.807A>T n.2465A>T n.2408A>T n.1664A>T n.2838A>T n.2437A>T n.2380A>T n.1636A>T | dbSNP gnomAD v4 |
2 | g.214728538T= | CA1327045365 | BARD1 | c.*138A= (n.*138A=) c.615A= n.807A= n.2465A= n.2408A= n.1664A= n.2838A= n.2437A= n.2380A= n.1636A= | |
2 | g.214728538_214728539insCTT | CA2662969703 | BARD1 | c.*138_*139insAGA (n.*138_*139insAGA) n.807_808insAGA n.2465_2466insAGA n.2408_2409insAGA n.1664_1665insAGA n.2437_2438insAGA n.2380_2381insAGA n.1636_1637insAGA | gnomAD v4 |
2 | g.214728552dup | CA10612770 | BARD1 | c.*138dup (n.*138dup) n.807dup n.2465dup n.2408dup n.1664dup n.2437dup n.2380dup n.1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728551_214728552dup | CA64792505 | BARD1 | c.*137_*138dup (n.*137_*138dup) n.806_807dup n.2464_2465dup n.2407_2408dup n.1663_1664dup n.2436_2437dup n.2379_2380dup n.1635_1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728550_214728552dup | CA64792510 | BARD1 | c.*136_*138dup (n.*136_*138dup) n.805_807dup n.2463_2465dup n.2406_2408dup n.1662_1664dup n.2435_2437dup n.2378_2380dup n.1634_1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728549_214728552dup | CA539534871 | BARD1 | c.*135_*138dup (n.*135_*138dup) n.804_807dup n.2462_2465dup n.2405_2408dup n.1661_1664dup n.2434_2437dup n.2377_2380dup n.1633_1636dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728548_214728552dup | CA1042200907 | BARD1 | c.*134_*138dup (n.*134_*138dup) n.803_807dup n.2461_2465dup n.2404_2408dup n.1660_1664dup n.2433_2437dup n.2376_2380dup n.1632_1636dup | gnomAD v3 gnomAD v4 |
2 | g.214728547_214728552dup | CA2662969694 | BARD1 | c.*133_*138dup (n.*133_*138dup) n.802_807dup n.2460_2465dup n.2403_2408dup n.1659_1664dup n.2432_2437dup n.2375_2380dup n.1631_1636dup | gnomAD v4 |
2 | g.214728546_214728552dup | CA1042200888 | BARD1 | c.*132_*138dup (n.*132_*138dup) n.801_807dup n.2459_2465dup n.2402_2408dup n.1658_1664dup n.2431_2437dup n.2374_2380dup n.1630_1636dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728545_214728552dup | CA1042200884 | BARD1 | c.*131_*138dup (n.*131_*138dup) n.800_807dup n.2458_2465dup n.2401_2408dup n.1657_1664dup n.2430_2437dup n.2373_2380dup n.1629_1636dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728552del | CA64792515 | BARD1 | c.*138del (n.*138del) c.615del n.807del n.2465del n.2408del n.1664del n.2838del n.2437del n.2380del n.1636del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728551_214728552del | CA431137485 | BARD1 | c.*137_*138del (n.*137_*138del) c.614_615del n.806_807del n.2464_2465del n.2407_2408del n.1663_1664del n.2837_2838del n.2436_2437del n.2379_2380del n.1635_1636del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728550_214728552del | CA915940755 | BARD1 | c.*136_*138del (n.*136_*138del) c.613_615del n.805_807del n.2463_2465del n.2406_2408del n.1662_1664del n.2836_2838del n.2435_2437del n.2378_2380del n.1634_1636del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214728549_214728552del | CA1042200878 | BARD1 | c.*135_*138del (n.*135_*138del) c.612_615del n.804_807del n.2462_2465del n.2405_2408del n.1661_1664del n.2835_2838del n.2434_2437del n.2377_2380del n.1633_1636del | gnomAD v3 gnomAD v4 |
2 | g.214728548_214728552del | CA2662969689 | BARD1 | c.*134_*138del (n.*134_*138del) c.611_615del n.803_807del n.2461_2465del n.2404_2408del n.1660_1664del n.2834_2838del n.2433_2437del n.2376_2380del n.1632_1636del | gnomAD v4 |
2 | g.214728547_214728552del | CA2662969687 | BARD1 | c.*133_*138del (n.*133_*138del) c.610_615del n.802_807del n.2460_2465del n.2403_2408del n.1659_1664del n.2833_2838del n.2432_2437del n.2375_2380del n.1631_1636del | gnomAD v4 |
2 | g.214728538_214728539insG | CA2754202914 | BARD1 | c.*137_*138insC (n.*137_*138insC) c.614_615insC n.806_807insC n.2464_2465insC n.2407_2408insC n.1663_1664insC n.2837_2838insC n.2436_2437insC n.2379_2380insC n.1635_1636insC | |
2 | g.214728539T= | CA1327045369 | BARD1 | c.*137A= (n.*137A=) c.614A= n.806A= n.2464A= n.2407A= n.1663A= n.2837A= n.2436A= n.2379A= n.1635A= | |
2 | g.214728539_214728540insAT | CA2662969717 | BARD1 | c.*137_*138insTA (n.*137_*138insTA) c.614_615insTA n.806_807insTA n.2464_2465insTA n.2407_2408insTA n.1663_1664insTA n.2837_2838insTA n.2436_2437insTA n.2379_2380insTA n.1635_1636insTA | gnomAD v4 |
2 | g.214728539_214728540insGT | CA2754202932 | BARD1 | c.*137_*138insCA (n.*137_*138insCA) c.614_615insCA n.806_807insCA n.2464_2465insCA n.2407_2408insCA n.1663_1664insCA n.2837_2838insCA n.2436_2437insCA n.2379_2380insCA n.1635_1636insCA | |
2 | g.214728539_214728540insA | CA1327045370 | BARD1 | c.*136_*137insT (n.*136_*137insT) c.613_614insT n.805_806insT n.2463_2464insT n.2406_2407insT n.1662_1663insT n.2836_2837insT n.2435_2436insT n.2378_2379insT n.1634_1635insT | dbSNP gnomAD v4 |
2 | g.214728540T>A | CA2662969721 | BARD1 | c.*136A>T (n.*136A>T) c.613A>T n.805A>T n.2463A>T n.2406A>T n.1662A>T n.2836A>T n.2435A>T n.2378A>T n.1634A>T | gnomAD v4 |
2 | g.214728540T>C | CA2662969719 | BARD1 | c.*136A>G (n.*136A>G) c.613A>G n.805A>G n.2463A>G n.2406A>G n.1662A>G n.2836A>G n.2435A>G n.2378A>G n.1634A>G | gnomAD v4 |
2 | g.214728540T= | CA1327045371 | BARD1 | c.*136A= (n.*136A=) c.613A= n.805A= n.2463A= n.2406A= n.1662A= n.2836A= n.2435A= n.2378A= n.1634A= | |
2 | g.214728541_214728542insCT | CA539534873 | BARD1 | c.*135_*136insGA (n.*135_*136insGA) c.612_613insGA n.804_805insGA n.2462_2463insGA n.2405_2406insGA n.1661_1662insGA n.2835_2836insGA n.2434_2435insGA n.2377_2378insGA n.1633_1634insGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214728542_214728543insCTT | CA2662969724 | BARD1 | c.*135_*136insGAA (n.*135_*136insGAA) c.612_613insGAA n.804_805insGAA n.2462_2463insGAA n.2405_2406insGAA n.1661_1662insGAA n.2835_2836insGAA n.2434_2435insGAA n.2377_2378insGAA n.1633_1634insGAA | gnomAD v4 |
2 | g.214728541_214728542insC | CA2662969727 | BARD1 | c.*134_*135insG (n.*134_*135insG) c.611_612insG n.803_804insG n.2461_2462insG n.2404_2405insG n.1660_1661insG n.2834_2835insG n.2433_2434insG n.2376_2377insG n.1632_1633insG | gnomAD v4 |
2 | g.214728544T= | CA1327045372 | BARD1 | c.*132A= (n.*132A=) c.609A= n.801A= n.2459A= n.2402A= n.1658A= n.2832A= n.2431A= n.2374A= n.1630A= | |
2 | g.214728544_214728545insCT | CA2662969729 | BARD1 | c.*132_*133insGA (n.*132_*133insGA) c.609_610insGA n.801_802insGA n.2459_2460insGA n.2402_2403insGA n.1658_1659insGA n.2832_2833insGA n.2431_2432insGA n.2374_2375insGA n.1630_1631insGA | gnomAD v4 |
2 | g.214728544_214728545insC | CA1327045373 | BARD1 | c.*131_*132insG (n.*131_*132insG) c.608_609insG n.800_801insG n.2458_2459insG n.2401_2402insG n.1657_1658insG n.2831_2832insG n.2430_2431insG n.2373_2374insG n.1629_1630insG | dbSNP gnomAD v4 |
2 | g.214728545_214728546insGT | CA2662969730 | BARD1 | c.*131_*132insCA (n.*131_*132insCA) c.608_609insCA n.800_801insCA n.2458_2459insCA n.2401_2402insCA n.1657_1658insCA n.2831_2832insCA n.2430_2431insCA n.2373_2374insCA n.1629_1630insCA | gnomAD v4 |
2 | g.214728546_214728547insAT | CA2662969731 | BARD1 | c.*130_*131insTA (n.*130_*131insTA) c.607_608insTA n.799_800insTA n.2457_2458insTA n.2400_2401insTA n.1656_1657insTA n.2830_2831insTA n.2429_2430insTA n.2372_2373insTA n.1628_1629insTA | gnomAD v4 |
2 | g.214728547T>C | CA2546755399 | BARD1 | c.*129A>G (n.*129A>G) c.606A>G n.798A>G n.2456A>G n.2399A>G n.1655A>G n.2829A>G n.2428A>G n.2371A>G n.1627A>G | |
2 | g.214728549_214728550insAT | CA2662969732 | BARD1 | c.*127_*128insTA (n.*127_*128insTA) c.604_605insTA n.796_797insTA n.2454_2455insTA n.2397_2398insTA n.1653_1654insTA n.2827_2828insTA n.2426_2427insTA n.2369_2370insTA n.1625_1626insTA | gnomAD v4 |
2 | g.214728549_214728550insCT | CA2662969733 | BARD1 | c.*127_*128insGA (n.*127_*128insGA) c.604_605insGA n.796_797insGA n.2454_2455insGA n.2397_2398insGA n.1653_1654insGA n.2827_2828insGA n.2426_2427insGA n.2369_2370insGA n.1625_1626insGA | gnomAD v4 |
2 | g.214728552T>A | CA2662969736 | BARD1 | c.*124A>T (n.*124A>T) c.601A>T n.793A>T n.2451A>T n.2394A>T n.1650A>T n.2824A>T n.2423A>T n.2366A>T n.1622A>T | gnomAD v4 |
2 | g.214728552T= | CA1327045374 | BARD1 | c.*124A= (n.*124A=) c.601A= n.793A= n.2451A= n.2394A= n.1650A= n.2824A= n.2423A= n.2366A= n.1622A= | |
2 | g.214728552_214728553insTGATTCAAAT | CA2662969739 | BARD1 | c.*124_*125insTTTGAATCAA (n.*124_*125insTTTGAATCAA) c.601_602insTTTGAATCAA n.793_794insTTTGAATCAA n.2451_2452insTTTGAATCAA n.2394_2395insTTTGAATCAA n.1650_1651insTTTGAATCAA n.2824_2825insTTTGAATCAA n.2423_2424insTTTGAATCAA n.2366_2367insTTTGAATCAA n.1622_1623insTTTGAATCAA | gnomAD v4 |
2 | g.214728552_214728553insTGATTTAAAGACAAATATGAAT | CA2662969738 | BARD1 | c.*124_*125insTTCATATTTGTCTTTAAATCAA (n.*124_*125insTTCATATTTGTCTTTAAATCAA) c.601_602insTTCATATTTGTCTTTAAATCAA n.793_794insTTCATATTTGTCTTTAAATCAA n.2451_2452insTTCATATTTGTCTTTAAATCAA n.2394_2395insTTCATATTTGTCTTTAAATCAA n.1650_1651insTTCATATTTGTCTTTAAATCAA n.2824_2825insTTCATATTTGTCTTTAAATCAA n.2423_2424insTTCATATTTGTCTTTAAATCAA n.2366_2367insTTCATATTTGTCTTTAAATCAA n.1622_1623insTTCATATTTGTCTTTAAATCAA | gnomAD v4 |
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.214728552_214728553insA | CA2662969745 | BARD1 | c.*123_*124insT (n.*123_*124insT) c.600_601insT n.792_793insT n.2450_2451insT n.2393_2394insT n.1649_1650insT n.2823_2824insT n.2422_2423insT n.2365_2366insT n.1621_1622insT | gnomAD v4 |
2 | g.214728552_214728553insTA | CA764557263 | BARD1 | c.*123_*124insTA (n.*123_*124insTA) c.600_601insTA n.792_793insTA n.2450_2451insTA n.2393_2394insTA n.1649_1650insTA n.2823_2824insTA n.2422_2423insTA n.2365_2366insTA n.1621_1622insTA | dbSNP gnomAD v3 gnomAD v4 |