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.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>G | CA2754202988 | BARD1 | c.*101T>C (n.*101T>C) c.3810T>C c.578T>C n.770T>C n.2428T>C n.2371T>C n.1627T>C n.2801T>C n.2400T>C n.2343T>C n.1599T>C | |
| 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 | |
| 2 | g.214728576C>A | CA1042201089 | BARD1 | c.*100G>T (n.*100G>T) c.3809G>T c.577G>T n.769G>T n.2427G>T n.2370G>T n.1626G>T n.2800G>T n.2399G>T n.2342G>T n.1598G>T | gnomAD v3 gnomAD v4 |
| 2 | g.214728576C>T | CA1042201092 | BARD1 | c.*100G>A (n.*100G>A) c.3809G>A c.577G>A n.769G>A n.2427G>A n.2370G>A n.1626G>A n.2800G>A n.2399G>A n.2342G>A n.1598G>A | gnomAD v4 |
| 2 | g.214728578_214728579del | CA539534895 | BARD1 | c.*99_*100del (n.*99_*100del) c.3808_3809del c.576_577del n.768_769del n.2426_2427del n.2369_2370del n.1625_1626del n.2799_2800del n.2398_2399del n.2341_2342del n.1597_1598del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214728577T>A | CA2662969822 | BARD1 | c.*99A>T (n.*99A>T) c.3808A>T c.576A>T n.768A>T n.2426A>T n.2369A>T n.1625A>T n.2799A>T n.2398A>T n.2341A>T n.1597A>T | gnomAD v4 |
| 2 | g.214728577T>C | CA2662969821 | BARD1 | c.*99A>G (n.*99A>G) c.3808A>G c.576A>G n.768A>G n.2426A>G n.2369A>G n.1625A>G n.2799A>G n.2398A>G n.2341A>G n.1597A>G | gnomAD v4 |
| 2 | g.214728577T>G | CA2701482481 | BARD1 | c.*99A>C (n.*99A>C) c.3808A>C c.576A>C n.768A>C n.2426A>C n.2369A>C n.1625A>C n.2799A>C n.2398A>C n.2341A>C n.1597A>C | dbSNP |
| 2 | g.214728578C>A | CA2662969824 | BARD1 | c.*98G>T (n.*98G>T) c.3807G>T c.575G>T n.767G>T n.2425G>T n.2368G>T n.1624G>T n.2798G>T n.2397G>T n.2340G>T n.1596G>T | gnomAD v4 |
| 2 | g.214728578C= | CA1327045389 | BARD1 | c.*98G= (n.*98G=) c.3807G= c.575G= n.767G= n.2425G= n.2368G= n.1624G= n.2798G= n.2397G= n.2340G= n.1596G= | |
| 2 | g.214728578C>G | CA2577234212 | BARD1 | c.*98G>C (n.*98G>C) c.3807G>C c.575G>C n.767G>C n.2425G>C n.2368G>C n.1624G>C n.2798G>C n.2397G>C n.2340G>C n.1596G>C | gnomAD v4 |
| 2 | g.214728578C>T | CA1042201096 | BARD1 | c.*98G>A (n.*98G>A) c.3807G>A c.575G>A n.767G>A n.2425G>A n.2368G>A n.1624G>A n.2798G>A n.2397G>A n.2340G>A n.1596G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.214728579T>A | CA2577234213 | BARD1 | c.*97A>T (n.*97A>T) c.3806A>T c.574A>T n.766A>T n.2424A>T n.2367A>T n.1623A>T n.2797A>T n.2396A>T n.2339A>T n.1595A>T | gnomAD v4 |
| 2 | g.214728579T>C | CA764557333 | BARD1 | c.*97A>G (n.*97A>G) c.3806A>G c.574A>G n.766A>G n.2424A>G n.2367A>G n.1623A>G n.2797A>G n.2396A>G n.2339A>G n.1595A>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.214728579T= | CA1327045390 | BARD1 | c.*97A= (n.*97A=) c.3806A= c.574A= n.766A= n.2424A= n.2367A= n.1623A= n.2797A= n.2396A= n.2339A= n.1595A= | |
| 2 | g.214728580A>T | CA1042201100 | BARD1 | c.*96T>A (n.*96T>A) c.3805T>A c.573T>A n.765T>A n.2423T>A n.2366T>A n.1622T>A n.2796T>A n.2395T>A n.2338T>A n.1594T>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728581C>A | CA1042201101 | BARD1 | c.*95G>T (n.*95G>T) c.3804G>T c.572G>T n.764G>T n.2422G>T n.2365G>T n.1621G>T n.2795G>T n.2394G>T n.2337G>T n.1593G>T | gnomAD v3 gnomAD v4 |
| 2 | g.214728581C>T | CA1042201102 | BARD1 | c.*95G>A (n.*95G>A) c.3804G>A c.572G>A n.764G>A n.2422G>A n.2365G>A n.1621G>A n.2795G>A n.2394G>A n.2337G>A n.1593G>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728582C>A | CA539837265 | BARD1 | c.*94G>T (n.*94G>T) c.3803G>T c.571G>T n.763G>T n.2421G>T n.2364G>T n.1620G>T n.2794G>T n.2393G>T n.2336G>T n.1592G>T | gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214728582C>G | CA2662969828 | BARD1 | c.*94G>C (n.*94G>C) c.3803G>C c.571G>C n.763G>C n.2421G>C n.2364G>C n.1620G>C n.2794G>C n.2393G>C n.2336G>C n.1592G>C | gnomAD v4 |
| 2 | g.214728582C>T | CA1042201103 | BARD1 | c.*94G>A (n.*94G>A) c.3803G>A c.571G>A n.763G>A n.2421G>A n.2364G>A n.1620G>A n.2794G>A n.2393G>A n.2336G>A n.1592G>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728583T>A | CA2662969830 | BARD1 | c.*93A>T (n.*93A>T) c.3802A>T c.570A>T n.762A>T n.2420A>T n.2363A>T n.1619A>T n.2793A>T n.2392A>T n.2335A>T n.1591A>T | gnomAD v4 |
| 2 | g.214728583T>C | CA1042201107 | BARD1 | c.*93A>G (n.*93A>G) c.3802A>G c.570A>G n.762A>G n.2420A>G n.2363A>G n.1619A>G n.2793A>G n.2392A>G n.2335A>G n.1591A>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.214728583T= | CA1327045391 | BARD1 | c.*93A= (n.*93A=) c.3802A= c.570A= n.762A= n.2420A= n.2363A= n.1619A= n.2793A= n.2392A= n.2335A= n.1591A= | |
| 2 | g.214728584A>C | CA2662969831 | BARD1 | c.*92T>G (n.*92T>G) c.3801T>G c.569T>G n.761T>G n.2419T>G n.2362T>G n.1618T>G n.2792T>G n.2391T>G n.2334T>G n.1590T>G | gnomAD v4 |
| 2 | g.214728584A>T | CA1042201109 | BARD1 | c.*92T>A (n.*92T>A) c.3801T>A c.569T>A n.761T>A n.2419T>A n.2362T>A n.1618T>A n.2792T>A n.2391T>A n.2334T>A n.1590T>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728586T>C | CA2662969832 | BARD1 | c.*90A>G (n.*90A>G) c.3799A>G c.567A>G n.759A>G n.2417A>G n.2360A>G n.1616A>G n.2790A>G n.2389A>G n.2332A>G n.1588A>G | gnomAD v4 |
| 2 | g.214728587T>A | CA1042201112 | BARD1 | c.*89A>T (n.*89A>T) c.3798A>T c.566A>T n.758A>T n.2416A>T n.2359A>T n.1615A>T n.2789A>T n.2388A>T n.2331A>T n.1587A>T | gnomAD v3 gnomAD v4 |
| 2 | g.214728587T>C | CA2662969835 | BARD1 | c.*89A>G (n.*89A>G) c.3798A>G c.566A>G n.758A>G n.2416A>G n.2359A>G n.1615A>G n.2789A>G n.2388A>G n.2331A>G n.1587A>G | gnomAD v4 |
| 2 | g.214728588G>T | CA1042201113 | BARD1 | c.*88C>A (n.*88C>A) c.3797C>A c.565C>A n.757C>A n.2415C>A n.2358C>A n.1614C>A n.2788C>A n.2387C>A n.2330C>A n.1586C>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728589T>C | CA2662969836 | BARD1 | c.*87A>G (n.*87A>G) c.3796A>G c.564A>G n.756A>G n.2414A>G n.2357A>G n.1613A>G n.2787A>G n.2386A>G n.2329A>G n.1585A>G | gnomAD v4 |
| 2 | g.214728590A>T | CA2607394564 | BARD1 | c.*86T>A (n.*86T>A) c.3795T>A c.563T>A n.755T>A n.2413T>A n.2356T>A n.1612T>A n.2786T>A n.2385T>A n.2328T>A n.1584T>A | gnomAD v3 gnomAD v4 |
| 2 | g.214728594del | CA2577234215 | BARD1 | c.*86del (n.*86del) c.3795del c.563del n.755del n.2413del n.2356del n.1612del n.2786del n.2385del n.2328del n.1584del | gnomAD v4 |
| 2 | g.214728593_214728594del | CA2577234214 | BARD1 | c.*85_*86del (n.*85_*86del) c.3794_3795del c.562_563del n.754_755del n.2412_2413del n.2355_2356del n.1611_1612del n.2785_2786del n.2384_2385del n.2327_2328del n.1583_1584del | |
| 2 | g.214728591A>T | CA2577234216 | BARD1 | c.*85T>A (n.*85T>A) c.3794T>A c.562T>A n.754T>A n.2412T>A n.2355T>A n.1611T>A n.2785T>A n.2384T>A n.2327T>A n.1583T>A |