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 |
|---|---|---|---|---|---|
| 7 | g.152648858_152651262delinsGGTTTGTTGATAATAATAAGAAAGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGCGGTAGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGAAAGTTGCAGTAAGCCAAGATTGAACCACTGCACTCCAGCCTAGGCAACAGAACAAGACTCCATCTCAAAAAAAAATTAAAATTAAATAATAAGAAATAAAGTAATTGCATTTTTTTGTGTTTTTGTTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTCCAATGGCGTGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGGGTTTCAGTATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCTCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCTTGAATCCGTATTTAGACCATCATTTGGTTGGGGCTAATAATTGGCATTTTAACATAGTGTTTCCAATCAGGTAGTTCAGCCGTAAATTAATAATGACAAGCAAGAGTTGAATGCCACTGTGAGTGCATTTTGAAAAGCTCTGGAAGCAAGGCAACTTCCCCAGTGTTGTTTGATTTAACTTGTGCTGTCCTTAGTTATTCGAGCCTAGATAGAAGGAGAGTTGGAGTCTTTAACGTTCAGAGTAGTTGACTTTGATTTTTAATGCTAGGAAAATAATTTCTAATGCAGCTGGACATGGTTTCCAGAGATAATTCAAATAGCAAAGAATAACTGAAGGCAGTTTGGGAACGTGTAAGGTTGTTTTCAGTTGAAGGATGCTGTTGGCATTTAGGGTCTGAGAGCCATGGGCTCTTGCCTCAATAATGTGTGAAACCACAAAATCCAGAATTGTTCCCCCCATAACATCAATAACACTGAGAAACCTAATTAGGGAGTGCCTTCACCTGCGTGTCATAGAAGTCCAACTTAGTGGCTTGCCCAGGTGGAGGCTTGTTTTCCTCACATCCTGAGTGGCACAGAGGCAGGCTGTGCGTGGCTGGTGGGGGCTCCGTGTGCCCAGAGTCCTGGGTACCTTCTGTCTTCCACGCCACCATCCTAAGGGTGGGTTTCATCCTCACTGCTTCCAGATGGCTGCTCCACCCCCACAGGAGGGTGCGGCAGGGCAGAAGGGGTCCCTGGATAGGAAAGAATCATCAACAGAGAGCAGCCTGCATCTCACTGGCGACAGCTGTGTTACCTGGTAACCTTGCTTTTCAAAGGAGACTATGAAAAATAGTTTTAAAGTGGACACATTTCCCTCCCCATCAAATTGGGTTTTATACTTTAGGAAGAAGGGAAGAATGGATATAGTGTAATCAACTACCAGAAAGGGTGTGTACTGTAGTCATCAGATTTTGGAAAGGCCCTAGATCTGTGGCTCTTTATTTTTGAATCTTACAAATTGAAGTGGGAGTGCATGTGAGCCTGGCCGGAGGAGAGTCCCCTAGCCTCTTCCAACCTTCCCACCAGGCTCTAATTTCCTTATTTATTGTATTTGCTTGTACAGCTCCATTTTGGCAAAAGTGAATTTAGATTTTCTTTCACATTCCAGTAAGTGTCTTTTTAAACTTTTTTGCAGACTTTGCATTTTGTAACCTACCCTTGAGCTACTGCATTTTGACTGAGATTTTTAAATTTTACACAGGTGATATTCTTGAATTTCATGGCCCAGAAGGAACAGGAAAAACAGAAATGCTTTATCACCTAACAGCACGATGTATACTTCCCAAATCAGAAGGTGGCCTGGAAGTAGAAGTCTTATTTATTGATACAGATTACCACTTTGATATGCTCCGGCTAGTTACAATTCTTGAGCACAGACTATCCCAAAGCTCTGAAGAAATAATCAAATACTGCCTGGGAAGATTTTTTTTGGTGTACTGCAGTAGTAGCACCCACTTACTTCTTACACTTTACTCACTAGAAAGTATGTTTTGTAGTCACCCATCTCTCTGCCTTTTGATTTTGGATAGCCTGTCAGCTTTTTACTGGATAGACCGCGTCAATGGAGGAGAAAGTGTGAACTTACAGGAGTCTACTCTGAGGAAATGTTCTCAGTGCTTAGAGAAGCTTGTAAATGACTATCGCCTGGTTCTTTTTGCAACGACACAAACTATAATGCAGAAAGCCTCGAGCTCATCAGAAGAACCT | CA2499218837 | XRCC2 | c.-47-1899_459delinsAGGTTCTTCTGATGAGCTCGAGGCTTTCTGCATTATAGTTTGTGTCGTTGCAAAAAGAACCAGGCGATAGTCATTTACAAGCTTCTCTAAGCACTGAGAACATTTCCTCAGAGTAGACTCCTGTAAGTTCACACTTTCTCCTCCATTGACGCGGTCTATCCAGTAAAAAGCTGACAGGCTATCCAAAATCAAAAGGCAGAGAGATGGGTGACTACAAAACATACTTTCTAGTGAGTAAAGTGTAAGAAGTAAGTGGGTGCTACTACTGCAGTACACCAAAAAAAATCTTCCCAGGCAGTATTTGATTATTTCTTCAGAGCTTTGGGATAGTCTGTGCTCAAGAATTGTAACTAGCCGGAGCATATCAAAGTGGTAATCTGTATCAATAAATAAGACTTCTACTTCCAGGCCACCTTCTGATTTGGGAAGTATACATCGTGCTGTTAGGTGATAAAGCATTTCTGTTTTTCCTGTTCCTTCTGGGCCATGAAATTCAAGAATATCACCTGTGTAAAATTTAAAAATCTCAGTCAAAATGCAGTAGCTCAAGGGTAGGTTACAAAATGCAAAGTCTGCAAAAAAGTTTAAAAAGACACTTACTGGAATGTGAAAGAAAATCTAAATTCACTTTTGCCAAAATGGAGCTGTACAAGCAAATACAATAAATAAGGAAATTAGAGCCTGGTGGGAAGGTTGGAAGAGGCTAGGGGACTCTCCTCCGGCCAGGCTCACATGCACTCCCACTTCAATTTGTAAGATTCAAAAATAAAGAGCCACAGATCTAGGGCCTTTCCAAAATCTGATGACTACAGTACACACCCTTTCTGGTAGTTGATTACACTATATCCATTCTTCCCTTCTTCCTAAAGTATAAAACCCAATTTGATGGGGAGGGAAATGTGTCCACTTTAAAACTATTTTTCATAGTCTCCTTTGAAAAGCAAGGTTACCAGGTAACACAGCTGTCGCCAGTGAGATGCAGGCTGCTCTCTGTTGATGATTCTTTCCTATCCAGGGACCCCTTCTGCCCTGCCGCACCCTCCTGTGGGGGTGGAGCAGCCATCTGGAAGCAGTGAGGATGAAACCCACCCTTAGGATGGTGGCGTGGAAGACAGAAGGTACCCAGGACTCTGGGCACACGGAGCCCCCACCAGCCACGCACAGCCTGCCTCTGTGCCACTCAGGATGTGAGGAAAACAAGCCTCCACCTGGGCAAGCCACTAAGTTGGACTTCTATGACACGCAGGTGAAGGCACTCCCTAATTAGGTTTCTCAGTGTTATTGATGTTATGGGGGGAACAATTCTGGATTTTGTGGTTTCACACATTATTGAGGCAAGAGCCCATGGCTCTCAGACCCTAAATGCCAACAGCATCCTTCAACTGAAAACAACCTTACACGTTCCCAAACTGCCTTCAGTTATTCTTTGCTATTTGAATTATCTCTGGAAACCATGTCCAGCTGCATTAGAAATTATTTTCCTAGCATTAAAAATCAAAGTCAACTACTCTGAACGTTAAAGACTCCAACTCTCCTTCTATCTAGGCTCGAATAACTAAGGACAGCACAAGTTAAATCAAACAACACTGGGGAAGTTGCCTTGCTTCCAGAGCTTTTCAAAATGCACTCACAGTGGCATTCAACTCTTGCTTGTCATTATTAATTTACGGCTGAACTACCTGATTGGAAACACTATGTTAAAATGCCAATTATTAGCCCCAACCAAATGATGGTCTAAATACGGATTCAAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATACTGAAACCCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGGACTCCAGCCTGGGCGACAAGAGCGAAACTCCGTCTCAAAAAACAAAAACAAAAACACAAAAAAATGCAATTACTTTATTTCTTATTATTTAATTTTAATTTTTTTTTGAGATGGAGTCTTGTTCTGTTGCCTAGGCTGGAGTGCAGTGGTTCAATCTTGGCTTACTGCAACTTTCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCTACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTTTCTTATTATTATCAACAAACC c.122-1899_627delinsAGGTTCTTCTGATGAGCTCGAGGCTTTCTGCATTATAGTTTGTGTCGTTGCAAAAAGAACCAGGCGATAGTCATTTACAAGCTTCTCTAAGCACTGAGAACATTTCCTCAGAGTAGACTCCTGTAAGTTCACACTTTCTCCTCCATTGACGCGGTCTATCCAGTAAAAAGCTGACAGGCTATCCAAAATCAAAAGGCAGAGAGATGGGTGACTACAAAACATACTTTCTAGTGAGTAAAGTGTAAGAAGTAAGTGGGTGCTACTACTGCAGTACACCAAAAAAAATCTTCCCAGGCAGTATTTGATTATTTCTTCAGAGCTTTGGGATAGTCTGTGCTCAAGAATTGTAACTAGCCGGAGCATATCAAAGTGGTAATCTGTATCAATAAATAAGACTTCTACTTCCAGGCCACCTTCTGATTTGGGAAGTATACATCGTGCTGTTAGGTGATAAAGCATTTCTGTTTTTCCTGTTCCTTCTGGGCCATGAAATTCAAGAATATCACCTGTGTAAAATTTAAAAATCTCAGTCAAAATGCAGTAGCTCAAGGGTAGGTTACAAAATGCAAAGTCTGCAAAAAAGTTTAAAAAGACACTTACTGGAATGTGAAAGAAAATCTAAATTCACTTTTGCCAAAATGGAGCTGTACAAGCAAATACAATAAATAAGGAAATTAGAGCCTGGTGGGAAGGTTGGAAGAGGCTAGGGGACTCTCCTCCGGCCAGGCTCACATGCACTCCCACTTCAATTTGTAAGATTCAAAAATAAAGAGCCACAGATCTAGGGCCTTTCCAAAATCTGATGACTACAGTACACACCCTTTCTGGTAGTTGATTACACTATATCCATTCTTCCCTTCTTCCTAAAGTATAAAACCCAATTTGATGGGGAGGGAAATGTGTCCACTTTAAAACTATTTTTCATAGTCTCCTTTGAAAAGCAAGGTTACCAGGTAACACAGCTGTCGCCAGTGAGATGCAGGCTGCTCTCTGTTGATGATTCTTTCCTATCCAGGGACCCCTTCTGCCCTGCCGCACCCTCCTGTGGGGGTGGAGCAGCCATCTGGAAGCAGTGAGGATGAAACCCACCCTTAGGATGGTGGCGTGGAAGACAGAAGGTACCCAGGACTCTGGGCACACGGAGCCCCCACCAGCCACGCACAGCCTGCCTCTGTGCCACTCAGGATGTGAGGAAAACAAGCCTCCACCTGGGCAAGCCACTAAGTTGGACTTCTATGACACGCAGGTGAAGGCACTCCCTAATTAGGTTTCTCAGTGTTATTGATGTTATGGGGGGAACAATTCTGGATTTTGTGGTTTCACACATTATTGAGGCAAGAGCCCATGGCTCTCAGACCCTAAATGCCAACAGCATCCTTCAACTGAAAACAACCTTACACGTTCCCAAACTGCCTTCAGTTATTCTTTGCTATTTGAATTATCTCTGGAAACCATGTCCAGCTGCATTAGAAATTATTTTCCTAGCATTAAAAATCAAAGTCAACTACTCTGAACGTTAAAGACTCCAACTCTCCTTCTATCTAGGCTCGAATAACTAAGGACAGCACAAGTTAAATCAAACAACACTGGGGAAGTTGCCTTGCTTCCAGAGCTTTTCAAAATGCACTCACAGTGGCATTCAACTCTTGCTTGTCATTATTAATTTACGGCTGAACTACCTGATTGGAAACACTATGTTAAAATGCCAATTATTAGCCCCAACCAAATGATGGTCTAAATACGGATTCAAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATACTGAAACCCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGGACTCCAGCCTGGGCGACAAGAGCGAAACTCCGTCTCAAAAAACAAAAACAAAAACACAAAAAAATGCAATTACTTTATTTCTTATTATTTAATTTTAATTTTTTTTTGAGATGGAGTCTTGTTCTGTTGCCTAGGCTGGAGTGCAGTGGTTCAATCTTGGCTTACTGCAACTTTCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCTACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTTTCTTATTATTATCAACAAACC n.144-1899_649delinsAGGTTCTTCTGATGAGCTCGAGGCTTTCTGCATTATAGTTTGTGTCGTTGCAAAAAGAACCAGGCGATAGTCATTTACAAGCTTCTCTAAGCACTGAGAACATTTCCTCAGAGTAGACTCCTGTAAGTTCACACTTTCTCCTCCATTGACGCGGTCTATCCAGTAAAAAGCTGACAGGCTATCCAAAATCAAAAGGCAGAGAGATGGGTGACTACAAAACATACTTTCTAGTGAGTAAAGTGTAAGAAGTAAGTGGGTGCTACTACTGCAGTACACCAAAAAAAATCTTCCCAGGCAGTATTTGATTATTTCTTCAGAGCTTTGGGATAGTCTGTGCTCAAGAATTGTAACTAGCCGGAGCATATCAAAGTGGTAATCTGTATCAATAAATAAGACTTCTACTTCCAGGCCACCTTCTGATTTGGGAAGTATACATCGTGCTGTTAGGTGATAAAGCATTTCTGTTTTTCCTGTTCCTTCTGGGCCATGAAATTCAAGAATATCACCTGTGTAAAATTTAAAAATCTCAGTCAAAATGCAGTAGCTCAAGGGTAGGTTACAAAATGCAAAGTCTGCAAAAAAGTTTAAAAAGACACTTACTGGAATGTGAAAGAAAATCTAAATTCACTTTTGCCAAAATGGAGCTGTACAAGCAAATACAATAAATAAGGAAATTAGAGCCTGGTGGGAAGGTTGGAAGAGGCTAGGGGACTCTCCTCCGGCCAGGCTCACATGCACTCCCACTTCAATTTGTAAGATTCAAAAATAAAGAGCCACAGATCTAGGGCCTTTCCAAAATCTGATGACTACAGTACACACCCTTTCTGGTAGTTGATTACACTATATCCATTCTTCCCTTCTTCCTAAAGTATAAAACCCAATTTGATGGGGAGGGAAATGTGTCCACTTTAAAACTATTTTTCATAGTCTCCTTTGAAAAGCAAGGTTACCAGGTAACACAGCTGTCGCCAGTGAGATGCAGGCTGCTCTCTGTTGATGATTCTTTCCTATCCAGGGACCCCTTCTGCCCTGCCGCACCCTCCTGTGGGGGTGGAGCAGCCATCTGGAAGCAGTGAGGATGAAACCCACCCTTAGGATGGTGGCGTGGAAGACAGAAGGTACCCAGGACTCTGGGCACACGGAGCCCCCACCAGCCACGCACAGCCTGCCTCTGTGCCACTCAGGATGTGAGGAAAACAAGCCTCCACCTGGGCAAGCCACTAAGTTGGACTTCTATGACACGCAGGTGAAGGCACTCCCTAATTAGGTTTCTCAGTGTTATTGATGTTATGGGGGGAACAATTCTGGATTTTGTGGTTTCACACATTATTGAGGCAAGAGCCCATGGCTCTCAGACCCTAAATGCCAACAGCATCCTTCAACTGAAAACAACCTTACACGTTCCCAAACTGCCTTCAGTTATTCTTTGCTATTTGAATTATCTCTGGAAACCATGTCCAGCTGCATTAGAAATTATTTTCCTAGCATTAAAAATCAAAGTCAACTACTCTGAACGTTAAAGACTCCAACTCTCCTTCTATCTAGGCTCGAATAACTAAGGACAGCACAAGTTAAATCAAACAACACTGGGGAAGTTGCCTTGCTTCCAGAGCTTTTCAAAATGCACTCACAGTGGCATTCAACTCTTGCTTGTCATTATTAATTTACGGCTGAACTACCTGATTGGAAACACTATGTTAAAATGCCAATTATTAGCCCCAACCAAATGATGGTCTAAATACGGATTCAAGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATCACCTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATACTGAAACCCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCACGCCATTGGACTCCAGCCTGGGCGACAAGAGCGAAACTCCGTCTCAAAAAACAAAAACAAAAACACAAAAAAATGCAATTACTTTATTTCTTATTATTTAATTTTAATTTTTTTTTGAGATGGAGTCTTGTTCTGTTGCCTAGGCTGGAGTGCAGTGGTTCAATCTTGGCTTACTGCAACTTTCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCTACCGCGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTTTCTTATTATTATCAACAAACC | ClinVar |
| 7 | g.152648909_152648922del | CA2685735866 | XRCC2 | c.397_410del (p.Leu133AsnfsTer25) c.565_578del (p.Leu189AsnfsTer25) n.587_600del | gnomAD v4 |
| 7 | g.152648909A= | CA1753247071 | XRCC2 | c.408T= (p.Phe136=) c.576T= (p.Phe192=) n.598T= | |
| 7 | g.152648909A>C | CA370198394 | XRCC2 | c.408T>G (p.Phe136Leu) c.576T>G (p.Phe192Leu) n.598T>G | |
| 7 | g.152648909A>G | CA4582328 | XRCC2 | c.408T>C (p.Phe136=) c.576T>C (p.Phe192=) n.598T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152648909A>T | CA370198395 | XRCC2 | c.408T>A (p.Phe136Leu) c.576T>A (p.Phe192Leu) n.598T>A | |
| 7 | g.152648913_152648914insAAAAAAAAA | CA2778474393 | XRCC2 | c.408_409insTTTTTTTTT (p.Phe136_Ala137insPhePhePhe) c.576_577insTTTTTTTTT (p.Phe192_Ala193insPhePhePhe) n.598_599insTTTTTTTTT | |
| 7 | g.152648913del | CA2778474395 | XRCC2 | c.408del (p.Phe136LeufsTer7) c.576del (p.Phe192LeufsTer7) n.598del | |
| 7 | g.152648910A>C | CA370198396 | XRCC2 | c.407T>G (p.Phe136Cys) c.575T>G (p.Phe192Cys) n.597T>G | |
| 7 | g.152648910A>G | CA370198397 | XRCC2 | c.407T>C (p.Phe136Ser) c.575T>C (p.Phe192Ser) n.597T>C | gnomAD v4 |
| 7 | g.152648910A>T | CA370198398 | XRCC2 | c.407T>A (p.Phe136Tyr) c.575T>A (p.Phe192Tyr) n.597T>A | |
| 7 | g.152648911A= | CA1753247076 | XRCC2 | c.406T= (p.Phe136=) c.574T= (p.Phe192=) n.596T= | |
| 7 | g.152648911A>C | CA370198399 | XRCC2 | c.406T>G (p.Phe136Val) c.574T>G (p.Phe192Val) n.596T>G | |
| 7 | g.152648911A>G | CA370198400 | XRCC2 | c.406T>C (p.Phe136Leu) c.574T>C (p.Phe192Leu) n.596T>C | ClinVar dbSNP |
| 7 | g.152648911A>T | CA370198401 | XRCC2 | c.406T>A (p.Phe136Ile) c.574T>A (p.Phe192Ile) n.596T>A | |
| 7 | g.152648912A>C | CA458895424 | XRCC2 | c.405T>G (p.Leu135=) c.573T>G (p.Leu191=) n.595T>G | |
| 7 | g.152648912A>G | CA458895425 | XRCC2 | c.405T>C (p.Leu135=) c.573T>C (p.Leu191=) n.595T>C | |
| 7 | g.152648912A>T | CA458895426 | XRCC2 | c.405T>A (p.Leu135=) c.573T>A (p.Leu191=) n.595T>A | |
| 7 | g.152648913A>C | CA370198402 | XRCC2 | c.404T>G (p.Leu135Arg) c.572T>G (p.Leu191Arg) n.594T>G | |
| 7 | g.152648913A>G | CA370198403 | XRCC2 | c.404T>C (p.Leu135Pro) c.572T>C (p.Leu191Pro) n.594T>C | |
| 7 | g.152648913A>T | CA370198404 | XRCC2 | c.404T>A (p.Leu135His) c.572T>A (p.Leu191His) n.594T>A | |
| 7 | g.152648914G>A | CA370198407 | XRCC2 | c.403C>T (p.Leu135Phe) c.571C>T (p.Leu191Phe) n.593C>T | |
| 7 | g.152648914G>C | CA370198406 | XRCC2 | c.403C>G (p.Leu135Val) c.571C>G (p.Leu191Val) n.593C>G | |
| 7 | g.152648914G= | CA1753247083 | XRCC2 | c.403C= (p.Leu135=) c.571C= (p.Leu191=) n.593C= | |
| 7 | g.152648914G>T | CA370198405 | XRCC2 | c.403C>A (p.Leu135Ile) c.571C>A (p.Leu191Ile) n.593C>A | ClinVar dbSNP COSMIC |
| 7 | g.152648914_152648915delinsGA | CA1753247082 | XRCC2 | c.402_403delinsTC (p.Val134=) c.570_571delinsTC (p.Val190=) n.592_593delinsTC | |
| 7 | g.152648915A>C | CA458895431 | XRCC2 | c.402T>G (p.Val134=) c.570T>G (p.Val190=) n.592T>G | |
| 7 | g.152648915A>G | CA458895432 | XRCC2 | c.402T>C (p.Val134=) c.570T>C (p.Val190=) n.592T>C | |
| 7 | g.152648915A>T | CA458895430 | XRCC2 | c.402T>A (p.Val134=) c.570T>A (p.Val190=) n.592T>A | |
| 7 | g.152648916del | CA10584278 | XRCC2 | c.402del (p.Leu135PhefsTer8) c.570del (p.Leu191PhefsTer8) n.592del | ClinVar dbSNP |
| 7 | g.152648916A= | CA1753247087 | XRCC2 | c.401T= (p.Val134=) c.569T= (p.Val190=) n.591T= | |
| 7 | g.152648916A>C | CA370198410 | XRCC2 | c.401T>G (p.Val134Gly) c.569T>G (p.Val190Gly) n.591T>G | |
| 7 | g.152648916A>G | CA370198408 | XRCC2 | c.401T>C (p.Val134Ala) c.569T>C (p.Val190Ala) n.591T>C | |
| 7 | g.152648916A>T | CA370198409 | XRCC2 | c.401T>A (p.Val134Asp) c.569T>A (p.Val190Asp) n.591T>A | ClinVar dbSNP |
| 7 | g.152648917C>A | CA370198411 | XRCC2 | c.400G>T (p.Val134Phe) c.568G>T (p.Val190Phe) n.590G>T | |
| 7 | g.152648917C>G | CA370198412 | XRCC2 | c.400G>C (p.Val134Leu) c.568G>C (p.Val190Leu) n.590G>C | dbSNP |
| 7 | g.152648917C>T | CA370198413 | XRCC2 | c.400G>A (p.Val134Ile) c.568G>A (p.Val190Ile) n.590G>A | dbSNP |
| 7 | g.152648918C>A | CA458895433 | XRCC2 | c.399G>T (p.Leu133=) c.567G>T (p.Leu189=) n.589G>T | |
| 7 | g.152648918C>G | CA458895434 | XRCC2 | c.399G>C (p.Leu133=) c.567G>C (p.Leu189=) n.589G>C | |
| 7 | g.152648918C>T | CA458895435 | XRCC2 | c.399G>A (p.Leu133=) c.567G>A (p.Leu189=) n.589G>A | ClinVar dbSNP |
| 7 | g.152648919A>C | CA370198414 | XRCC2 | c.398T>G (p.Leu133Arg) c.566T>G (p.Leu189Arg) n.588T>G | |
| 7 | g.152648919A>G | CA370198415 | XRCC2 | c.398T>C (p.Leu133Pro) c.566T>C (p.Leu189Pro) n.588T>C | |
| 7 | g.152648919A>T | CA370198416 | XRCC2 | c.398T>A (p.Leu133Gln) c.566T>A (p.Leu189Gln) n.588T>A | |
| 7 | g.152648920G>A | CA458895439 | XRCC2 | c.397C>T (p.Leu133=) c.565C>T (p.Leu189=) n.587C>T | |
| 7 | g.152648920G>C | CA370198417 | XRCC2 | c.397C>G (p.Leu133Val) c.565C>G (p.Leu189Val) n.587C>G | ClinVar dbSNP |
| 7 | g.152648920G= | CA1753247093 | XRCC2 | c.397C= (p.Leu133=) c.565C= (p.Leu189=) n.587C= | |
| 7 | g.152648920G>T | CA4582329 | XRCC2 | c.397C>A (p.Leu133Met) c.565C>A (p.Leu189Met) n.587C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152648920_152648922delinsTGT | CA2580077741 | XRCC2 | c.395_397delinsACA (p.Arg132_Leu133delinsHisMet) c.563_565delinsACA (p.Arg188_Leu189delinsHisMet) n.585_587delinsACA | ClinVar |
| 7 | g.152648921G>A | CA458895442 | XRCC2 | c.396C>T (p.Arg132=) c.564C>T (p.Arg188=) n.586C>T | ClinVar gnomAD v4 |
| 7 | g.152648921G>C | CA458895440 | XRCC2 | c.396C>G (p.Arg132=) c.564C>G (p.Arg188=) n.586C>G | dbSNP |