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.152648931T>A | CA370198442 | XRCC2 | c.386A>T (p.Asn129Ile) c.554A>T (p.Asn185Ile) n.576A>T | |
| 7 | g.152648931T>C | CA370198441 | XRCC2 | c.386A>G (p.Asn129Ser) c.554A>G (p.Asn185Ser) n.576A>G | |
| 7 | g.152648931T>G | CA370198440 | XRCC2 | c.386A>C (p.Asn129Thr) c.554A>C (p.Asn185Thr) n.576A>C | |
| 7 | g.152648932T>A | CA370198443 | XRCC2 | c.385A>T (p.Asn129Tyr) c.553A>T (p.Asn185Tyr) n.575A>T | |
| 7 | g.152648932T>C | CA370198444 | XRCC2 | c.385A>G (p.Asn129Asp) c.553A>G (p.Asn185Asp) n.575A>G | |
| 7 | g.152648932T>G | CA370198445 | XRCC2 | c.385A>C (p.Asn129His) c.553A>C (p.Asn185His) n.575A>C | |
| 7 | g.152648933T>A | CA458895448 | XRCC2 | c.384A>T (p.Val128=) c.552A>T (p.Val184=) n.574A>T | ClinVar |
| 7 | g.152648933T>C | CA458895449 | XRCC2 | c.384A>G (p.Val128=) c.552A>G (p.Val184=) n.574A>G | gnomAD v4 |
| 7 | g.152648933T>G | CA458895450 | XRCC2 | c.384A>C (p.Val128=) c.552A>C (p.Val184=) n.574A>C | ClinVar |
| 7 | g.152648934A>C | CA370198446 | XRCC2 | c.383T>G (p.Val128Gly) c.551T>G (p.Val184Gly) n.573T>G | |
| 7 | g.152648934A>G | CA370198447 | XRCC2 | c.383T>C (p.Val128Ala) c.551T>C (p.Val184Ala) n.573T>C | |
| 7 | g.152648934A>T | CA370198448 | XRCC2 | c.383T>A (p.Val128Glu) c.551T>A (p.Val184Glu) n.573T>A | |
| 7 | g.152648935C>A | CA370198449 | XRCC2 | c.382G>T (p.Val128Leu) c.550G>T (p.Val184Leu) n.572G>T | |
| 7 | g.152648935C= | CA1753247120 | XRCC2 | c.382G= (p.Val128=) c.550G= (p.Val184=) n.572G= | |
| 7 | g.152648935C>G | CA370198451 | XRCC2 | c.382G>C (p.Val128Leu) c.550G>C (p.Val184Leu) n.572G>C | |
| 7 | g.152648935C>T | CA370198450 | XRCC2 | c.382G>A (p.Val128Ile) c.550G>A (p.Val184Ile) n.572G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.152648936A= | CA1753247124 | XRCC2 | c.381T= (p.Leu127=) c.549T= (p.Leu183=) n.571T= | |
| 7 | g.152648936A>C | CA458895452 | XRCC2 | c.381T>G (p.Leu127=) c.549T>G (p.Leu183=) n.571T>G | ClinVar gnomAD v4 |
| 7 | g.152648936A>G | CA458895453 | XRCC2 | c.381T>C (p.Leu127=) c.549T>C (p.Leu183=) n.571T>C | ClinVar dbSNP |
| 7 | g.152648936A>T | CA458895454 | XRCC2 | c.381T>A (p.Leu127=) c.549T>A (p.Leu183=) n.571T>A | |
| 7 | g.152648937A>C | CA370198452 | XRCC2 | c.380T>G (p.Leu127Arg) c.548T>G (p.Leu183Arg) n.570T>G | |
| 7 | g.152648937A>G | CA370198453 | XRCC2 | c.380T>C (p.Leu127Pro) c.548T>C (p.Leu183Pro) n.570T>C | ClinVar gnomAD v4 |
| 7 | g.152648937A>T | CA370198454 | XRCC2 | c.380T>A (p.Leu127His) c.548T>A (p.Leu183His) n.570T>A | |
| 7 | g.152648938G>A | CA370198455 | XRCC2 | c.379C>T (p.Leu127Phe) c.547C>T (p.Leu183Phe) n.569C>T | |
| 7 | g.152648938G>C | CA370198456 | XRCC2 | c.379C>G (p.Leu127Val) c.547C>G (p.Leu183Val) n.569C>G | dbSNP gnomAD v4 |
| 7 | g.152648938G>T | CA370198457 | XRCC2 | c.379C>A (p.Leu127Ile) c.547C>A (p.Leu183Ile) n.569C>A | |
| 7 | g.152648939C>A | CA370198458 | XRCC2 | c.378G>T (p.Lys126Asn) c.546G>T (p.Lys182Asn) n.568G>T | ClinVar COSMIC |
| 7 | g.152648939C= | CA1753247128 | XRCC2 | c.378G= (p.Lys126=) c.546G= (p.Lys182=) n.568G= | |
| 7 | g.152648939C>G | CA4582331 | XRCC2 | c.378G>C (p.Lys126Asn) c.546G>C (p.Lys182Asn) n.568G>C | dbSNP ExAC gnomAD v2 |
| 7 | g.152648939C>T | CA458895455 | XRCC2 | c.378G>A (p.Lys126=) c.546G>A (p.Lys182=) n.568G>A | |
| 7 | g.152648939_152648940delinsCT | CA1753247127 | XRCC2 | c.377_378delinsAG (p.Lys126=) c.545_546delinsAG (p.Lys182=) n.567_568delinsAG | |
| 7 | g.152648940T>A | CA370198459 | XRCC2 | c.377A>T (p.Lys126Met) c.545A>T (p.Lys182Met) n.567A>T | |
| 7 | g.152648940T>C | CA370198460 | XRCC2 | c.377A>G (p.Lys126Arg) c.545A>G (p.Lys182Arg) n.567A>G | gnomAD v4 |
| 7 | g.152648940T>G | CA370198461 | XRCC2 | c.377A>C (p.Lys126Thr) c.545A>C (p.Lys182Thr) n.567A>C | ClinVar |
| 7 | g.152648941del | CA288138 | XRCC2 | c.377del (p.Lys126SerfsTer3) c.545del (p.Lys182SerfsTer3) n.567del | ClinVar dbSNP |
| 7 | g.152648941T>A | CA370198462 | XRCC2 | c.376A>T (p.Lys126Ter) c.544A>T (p.Lys182Ter) n.566A>T | dbSNP |
| 7 | g.152648941T>C | CA16618429 | XRCC2 | c.376A>G (p.Lys126Glu) c.544A>G (p.Lys182Glu) n.566A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.152648941T>G | CA370198463 | XRCC2 | c.376A>C (p.Lys126Gln) c.544A>C (p.Lys182Gln) n.566A>C | |
| 7 | g.152648941T= | CA1753247137 | XRCC2 | c.376A= (p.Lys126=) c.544A= (p.Lys182=) n.566A= | |
| 7 | g.152648942C>A | CA370198464 | XRCC2 | c.375G>T (p.Glu125Asp) c.543G>T (p.Glu181Asp) n.565G>T | |
| 7 | g.152648942C>G | CA370198465 | XRCC2 | c.375G>C (p.Glu125Asp) c.543G>C (p.Glu181Asp) n.565G>C | |
| 7 | g.152648942C>T | CA458895456 | XRCC2 | c.375G>A (p.Glu125=) c.543G>A (p.Glu181=) n.565G>A | |
| 7 | g.152648943T>A | CA370198466 | XRCC2 | c.374A>T (p.Glu125Val) c.542A>T (p.Glu181Val) n.564A>T | |
| 7 | g.152648943T>C | CA370198468 | XRCC2 | c.374A>G (p.Glu125Gly) c.542A>G (p.Glu181Gly) n.564A>G | |
| 7 | g.152648943T>G | CA370198467 | XRCC2 | c.374A>C (p.Glu125Ala) c.542A>C (p.Glu181Ala) n.564A>C | |
| 7 | g.152648944C>A | CA370198469 | XRCC2 | c.373G>T (p.Glu125Ter) c.541G>T (p.Glu181Ter) n.563G>T | |
| 7 | g.152648944C>G | CA370198471 | XRCC2 | c.373G>C (p.Glu125Gln) c.541G>C (p.Glu181Gln) n.563G>C | ClinVar gnomAD v4 COSMIC |
| 7 | g.152648944C>T | CA370198470 | XRCC2 | c.373G>A (p.Glu125Lys) c.541G>A (p.Glu181Lys) n.563G>A | |
| 7 | g.152648945T>A | CA370198472 | XRCC2 | c.372A>T (p.Leu124Phe) c.540A>T (p.Leu180Phe) n.562A>T | ClinVar |