UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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_214728559insTTTG | CA2754202978 | BARD1 | c.*117_*118insCAAA (n.*117_*118insCAAA) c.594_595insCAAA n.786_787insCAAA n.2444_2445insCAAA n.2387_2388insCAAA n.1643_1644insCAAA n.2817_2818insCAAA n.2416_2417insCAAA n.2359_2360insCAAA n.1615_1616insCAAA | |
| 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 |
| 2 | g.214728558_214728559insTTTTTT | CA539534892 | BARD1 | c.*117_*118insAAAAAA (n.*117_*118insAAAAAA) c.594_595insAAAAAA n.786_787insAAAAAA n.2444_2445insAAAAAA n.2387_2388insAAAAAA n.1643_1644insAAAAAA n.2817_2818insAAAAAA n.2416_2417insAAAAAA n.2359_2360insAAAAAA n.1615_1616insAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214728559A>C | CA2662969785 | BARD1 | c.*117T>G (n.*117T>G) c.594T>G n.786T>G n.2444T>G n.2387T>G n.1643T>G n.2817T>G n.2416T>G n.2359T>G n.1615T>G | gnomAD v4 |
| 2 | g.214728559A>G | CA2662969784 | BARD1 | c.*117T>C (n.*117T>C) c.594T>C n.786T>C n.2444T>C n.2387T>C n.1643T>C n.2817T>C n.2416T>C n.2359T>C n.1615T>C | gnomAD v4 |
| 2 | g.214728559A>T | CA2662969783 | BARD1 | c.*117T>A (n.*117T>A) c.594T>A n.786T>A n.2444T>A n.2387T>A n.1643T>A n.2817T>A n.2416T>A n.2359T>A n.1615T>A | gnomAD v4 |
| 2 | g.214728560A>C | CA2662969788 | BARD1 | c.*116T>G (n.*116T>G) c.593T>G n.785T>G n.2443T>G n.2386T>G n.1642T>G n.2816T>G n.2415T>G n.2358T>G n.1614T>G | gnomAD v4 |
| 2 | g.214728560A>G | CA2662969789 | BARD1 | c.*116T>C (n.*116T>C) c.593T>C n.785T>C n.2443T>C n.2386T>C n.1642T>C n.2816T>C n.2415T>C n.2358T>C n.1614T>C | gnomAD v4 |
| 2 | g.214728560A>T | CA1042200989 | BARD1 | c.*116T>A (n.*116T>A) c.593T>A n.785T>A n.2443T>A n.2386T>A n.1642T>A n.2816T>A n.2415T>A n.2358T>A n.1614T>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728561G>A | CA1042200990 | BARD1 | c.*115C>T (n.*115C>T) c.592C>T n.784C>T n.2442C>T n.2385C>T n.1641C>T n.2815C>T n.2414C>T n.2357C>T n.1613C>T | gnomAD v3 gnomAD v4 |
| 2 | g.214728561G>C | CA2662969792 | BARD1 | c.*115C>G (n.*115C>G) c.592C>G n.784C>G n.2442C>G n.2385C>G n.1641C>G n.2815C>G n.2414C>G n.2357C>G n.1613C>G | gnomAD v4 |
| 2 | g.214728561G>T | CA1042200991 | BARD1 | c.*115C>A (n.*115C>A) c.592C>A n.784C>A n.2442C>A n.2385C>A n.1641C>A n.2815C>A n.2414C>A n.2357C>A n.1613C>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728562A>C | CA2662969797 | BARD1 | c.*114T>G (n.*114T>G) c.591T>G n.783T>G n.2441T>G n.2384T>G n.1640T>G n.2814T>G n.2413T>G n.2356T>G n.1612T>G | gnomAD v4 |
| 2 | g.214728562A>G | CA2662969796 | BARD1 | c.*114T>C (n.*114T>C) c.591T>C n.783T>C n.2441T>C n.2384T>C n.1640T>C n.2814T>C n.2413T>C n.2356T>C n.1612T>C | gnomAD v4 |
| 2 | g.214728562A>T | CA1042200992 | BARD1 | c.*114T>A (n.*114T>A) c.591T>A n.783T>A n.2441T>A n.2384T>A n.1640T>A n.2814T>A n.2413T>A n.2356T>A n.1612T>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728562_214728563insTTT | CA1042200994 | BARD1 | c.*113_*114insAAA (n.*113_*114insAAA) c.590_591insAAA n.782_783insAAA n.2440_2441insAAA n.2383_2384insAAA n.1639_1640insAAA n.2813_2814insAAA n.2412_2413insAAA n.2355_2356insAAA n.1611_1612insAAA | gnomAD v3 gnomAD v4 |
| 2 | g.214728562_214728563insTTTTTTTTTT | CA1042200996 | BARD1 | c.*113_*114insAAAAAAAAAA (n.*113_*114insAAAAAAAAAA) c.590_591insAAAAAAAAAA n.782_783insAAAAAAAAAA n.2440_2441insAAAAAAAAAA n.2383_2384insAAAAAAAAAA n.1639_1640insAAAAAAAAAA n.2813_2814insAAAAAAAAAA n.2412_2413insAAAAAAAAAA n.2355_2356insAAAAAAAAAA n.1611_1612insAAAAAAAAAA | 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 |