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.47470591_47478986del | CA331343 | MSH2 | c.1662-374_2458+467del c.1464-374_2260+467del c.1662-397_*758+467del c.*58-374_*854+467del c.*202-374_*998+467del c.*428-374_*1224+467del c.*634-374_*1430+467del c.1662-374_*24+467del n.1734-374_2530+467del n.1724-374_2520+467del | ClinVar |
| 2 | g.47471367_47476333del | CA331371 | MSH2 | c.1759+305_2006-34del c.1561+305_1808-34del c.*59+305_*306-34del c.*155+305_*402-34del c.*299+305_*546-34del c.*525+305_*772-34del c.*731+305_*978-34del n.1831+305_2078-34del n.1821+305_2068-34del | ClinVar |
| 2 | g.47474664_47481709del | CA331375 | MSH2 | c.1760-361_2634+838del c.1562-361_2436+838del c.*60-361_*934+838del c.*156-361_*1030+838del c.*300-361_*1174+838del c.*526-361_*1400+838del c.*732-361_*1606+838del c.1760-361_*200+838del n.1832-361_2706+838del n.1822-361_2696+838del | ClinVar |
| 2 | g.47475026_47478520del | CA2580061388 | MSH2 | c.1761_2458+1del c.1563_2260+1del c.*61_*758+1del c.*157_*854+1del c.*301_*998+1del c.*527_*1224+1del c.*733_*1430+1del c.1761_*24+1del n.1833_2530+1del n.1823_2520+1del | ClinVar |
| 2 | g.47475521_47476447delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC | CA2495872785 | MSH2 | c.2005+251_2086delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC c.1807+251_1888delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC c.*305+251_*386delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC c.*401+251_*482delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC c.*545+251_*626delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC c.*771+251_*852delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC c.*977+251_*1058delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC n.2077+251_2158delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC n.2067+251_2148delinsGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC | |
| 2 | g.47475525_47476450del | CA916080262 | MSH2 | c.2005+255_2089del c.1807+255_1891del c.*305+255_*389del c.*401+255_*485del c.*545+255_*629del c.*771+255_*855del c.*977+255_*1061del n.2077+255_2161del n.2067+255_2151del | ClinVar dbSNP |
| 2 | g.47476331_47476334dup | CA198859 | MSH2 | c.2006-36_2006-33dup (n.2006-36_2006-33dup) c.1808-36_1808-33dup (n.1808-36_1808-33dup) c.*306-36_*306-33dup (n.*306-36_*306-33dup) c.*402-36_*402-33dup (n.*402-36_*402-33dup) c.*546-36_*546-33dup (n.*546-36_*546-33dup) c.*772-36_*772-33dup (n.*772-36_*772-33dup) c.*978-36_*978-33dup (n.*978-36_*978-33dup) n.2078-36_2078-33dup n.2068-36_2068-33dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476333A>T | CA2699280191 | MSH2 | c.2006-34A>T (n.2006-34A>T) c.1808-34A>T (n.1808-34A>T) c.*306-34A>T (n.*306-34A>T) c.*402-34A>T (n.*402-34A>T) c.*546-34A>T (n.*546-34A>T) c.*772-34A>T (n.*772-34A>T) c.*978-34A>T (n.*978-34A>T) n.2078-34A>T n.2068-34A>T | dbSNP |
| 2 | g.47476334A= | CA2495873255 | MSH2 | c.2006-33A= (n.2006-33A=) c.1808-33A= (n.1808-33A=) c.*306-33A= (n.*306-33A=) c.*402-33A= (n.*402-33A=) c.*546-33A= (n.*546-33A=) c.*772-33A= (n.*772-33A=) c.*978-33A= (n.*978-33A=) n.2078-33A= n.2068-33A= | |
| 2 | g.47476334A>G | CA033214 | MSH2 | c.2006-33A>G (n.2006-33A>G) c.1808-33A>G (n.1808-33A>G) c.*306-33A>G (n.*306-33A>G) c.*402-33A>G (n.*402-33A>G) c.*546-33A>G (n.*546-33A>G) c.*772-33A>G (n.*772-33A>G) c.*978-33A>G (n.*978-33A>G) n.2078-33A>G n.2068-33A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476335A= | CA2495873257 | MSH2 | c.2006-32A= (n.2006-32A=) c.1808-32A= (n.1808-32A=) c.*306-32A= (n.*306-32A=) c.*402-32A= (n.*402-32A=) c.*546-32A= (n.*546-32A=) c.*772-32A= (n.*772-32A=) c.*978-32A= (n.*978-32A=) n.2078-32A= n.2068-32A= | |
| 2 | g.47476335A>T | CA033199 | MSH2 | c.2006-32A>T (n.2006-32A>T) c.1808-32A>T (n.1808-32A>T) c.*306-32A>T (n.*306-32A>T) c.*402-32A>T (n.*402-32A>T) c.*546-32A>T (n.*546-32A>T) c.*772-32A>T (n.*772-32A>T) c.*978-32A>T (n.*978-32A>T) n.2078-32A>T n.2068-32A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47476336A= | CA2495873258 | MSH2 | c.2006-31A= (n.2006-31A=) c.1808-31A= (n.1808-31A=) c.*306-31A= (n.*306-31A=) c.*402-31A= (n.*402-31A=) c.*546-31A= (n.*546-31A=) c.*772-31A= (n.*772-31A=) c.*978-31A= (n.*978-31A=) n.2078-31A= n.2068-31A= | |
| 2 | g.47476336A>C | CA532705132 | MSH2 | c.2006-31A>C (n.2006-31A>C) c.1808-31A>C (n.1808-31A>C) c.*306-31A>C (n.*306-31A>C) c.*402-31A>C (n.*402-31A>C) c.*546-31A>C (n.*546-31A>C) c.*772-31A>C (n.*772-31A>C) c.*978-31A>C (n.*978-31A>C) n.2078-31A>C n.2068-31A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476336A>G | CA2658948429 | MSH2 | c.2006-31A>G (n.2006-31A>G) c.1808-31A>G (n.1808-31A>G) c.*306-31A>G (n.*306-31A>G) c.*402-31A>G (n.*402-31A>G) c.*546-31A>G (n.*546-31A>G) c.*772-31A>G (n.*772-31A>G) c.*978-31A>G (n.*978-31A>G) n.2078-31A>G n.2068-31A>G | gnomAD v4 |
| 2 | g.47476337T>A | CA2699280192 | MSH2 | c.2006-30T>A (n.2006-30T>A) c.1808-30T>A (n.1808-30T>A) c.*306-30T>A (n.*306-30T>A) c.*402-30T>A (n.*402-30T>A) c.*546-30T>A (n.*546-30T>A) c.*772-30T>A (n.*772-30T>A) c.*978-30T>A (n.*978-30T>A) n.2078-30T>A n.2068-30T>A | dbSNP |
| 2 | g.47476337T>C | CA2699280201 | MSH2 | c.2006-30T>C (n.2006-30T>C) c.1808-30T>C (n.1808-30T>C) c.*306-30T>C (n.*306-30T>C) c.*402-30T>C (n.*402-30T>C) c.*546-30T>C (n.*546-30T>C) c.*772-30T>C (n.*772-30T>C) c.*978-30T>C (n.*978-30T>C) n.2078-30T>C n.2068-30T>C | dbSNP |
| 2 | g.47476338C>A | CA2699280203 | MSH2 | c.2006-29C>A (n.2006-29C>A) c.1808-29C>A (n.1808-29C>A) c.*306-29C>A (n.*306-29C>A) c.*402-29C>A (n.*402-29C>A) c.*546-29C>A (n.*546-29C>A) c.*772-29C>A (n.*772-29C>A) c.*978-29C>A (n.*978-29C>A) n.2078-29C>A n.2068-29C>A | dbSNP |
| 2 | g.47476338C>G | CA2699280227 | MSH2 | c.2006-29C>G (n.2006-29C>G) c.1808-29C>G (n.1808-29C>G) c.*306-29C>G (n.*306-29C>G) c.*402-29C>G (n.*402-29C>G) c.*546-29C>G (n.*546-29C>G) c.*772-29C>G (n.*772-29C>G) c.*978-29C>G (n.*978-29C>G) n.2078-29C>G n.2068-29C>G | dbSNP |
| 2 | g.47476338C>T | CA2699280347 | MSH2 | c.2006-29C>T (n.2006-29C>T) c.1808-29C>T (n.1808-29C>T) c.*306-29C>T (n.*306-29C>T) c.*402-29C>T (n.*402-29C>T) c.*546-29C>T (n.*546-29C>T) c.*772-29C>T (n.*772-29C>T) c.*978-29C>T (n.*978-29C>T) n.2078-29C>T n.2068-29C>T | dbSNP |
| 2 | g.47476339T>A | CA2699280367 | MSH2 | c.2006-28T>A (n.2006-28T>A) c.1808-28T>A (n.1808-28T>A) c.*306-28T>A (n.*306-28T>A) c.*402-28T>A (n.*402-28T>A) c.*546-28T>A (n.*546-28T>A) c.*772-28T>A (n.*772-28T>A) c.*978-28T>A (n.*978-28T>A) n.2078-28T>A n.2068-28T>A | dbSNP |
| 2 | g.47476339T>C | CA2699280553 | MSH2 | c.2006-28T>C (n.2006-28T>C) c.1808-28T>C (n.1808-28T>C) c.*306-28T>C (n.*306-28T>C) c.*402-28T>C (n.*402-28T>C) c.*546-28T>C (n.*546-28T>C) c.*772-28T>C (n.*772-28T>C) c.*978-28T>C (n.*978-28T>C) n.2078-28T>C n.2068-28T>C | dbSNP |
| 2 | g.47476340T>C | CA2658948430 | MSH2 | c.2006-27T>C (n.2006-27T>C) c.1808-27T>C (n.1808-27T>C) c.*306-27T>C (n.*306-27T>C) c.*402-27T>C (n.*402-27T>C) c.*546-27T>C (n.*546-27T>C) c.*772-27T>C (n.*772-27T>C) c.*978-27T>C (n.*978-27T>C) n.2078-27T>C n.2068-27T>C | gnomAD v4 |
| 2 | g.47476340T= | CA2495873259 | MSH2 | c.2006-27T= (n.2006-27T=) c.1808-27T= (n.1808-27T=) c.*306-27T= (n.*306-27T=) c.*402-27T= (n.*402-27T=) c.*546-27T= (n.*546-27T=) c.*772-27T= (n.*772-27T=) c.*978-27T= (n.*978-27T=) n.2078-27T= n.2068-27T= | |
| 2 | g.47476341G>A | CA033175 | MSH2 | c.2006-26G>A (n.2006-26G>A) c.1808-26G>A (n.1808-26G>A) c.*306-26G>A (n.*306-26G>A) c.*402-26G>A (n.*402-26G>A) c.*546-26G>A (n.*546-26G>A) c.*772-26G>A (n.*772-26G>A) c.*978-26G>A (n.*978-26G>A) n.2078-26G>A n.2068-26G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476341G>C | CA033189 | MSH2 | c.2006-26G>C (n.2006-26G>C) c.1808-26G>C (n.1808-26G>C) c.*306-26G>C (n.*306-26G>C) c.*402-26G>C (n.*402-26G>C) c.*546-26G>C (n.*546-26G>C) c.*772-26G>C (n.*772-26G>C) c.*978-26G>C (n.*978-26G>C) n.2078-26G>C n.2068-26G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476341G= | CA2495873260 | MSH2 | c.2006-26G= (n.2006-26G=) c.1808-26G= (n.1808-26G=) c.*306-26G= (n.*306-26G=) c.*402-26G= (n.*402-26G=) c.*546-26G= (n.*546-26G=) c.*772-26G= (n.*772-26G=) c.*978-26G= (n.*978-26G=) n.2078-26G= n.2068-26G= | |
| 2 | g.47476341G>T | CA2699074945 | MSH2 | c.2006-26G>T (n.2006-26G>T) c.1808-26G>T (n.1808-26G>T) c.*306-26G>T (n.*306-26G>T) c.*402-26G>T (n.*402-26G>T) c.*546-26G>T (n.*546-26G>T) c.*772-26G>T (n.*772-26G>T) c.*978-26G>T (n.*978-26G>T) n.2078-26G>T n.2068-26G>T | dbSNP |
| 2 | g.47476341dup | CA46702120 | MSH2 | c.2006-26dup (n.2006-26dup) c.1808-26dup (n.1808-26dup) c.*306-26dup (n.*306-26dup) c.*402-26dup (n.*402-26dup) c.*546-26dup (n.*546-26dup) c.*772-26dup (n.*772-26dup) c.*978-26dup (n.*978-26dup) n.2078-26dup n.2068-26dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476342C>A | CA2658948431 | MSH2 | c.2006-25C>A (n.2006-25C>A) c.1808-25C>A (n.1808-25C>A) c.*306-25C>A (n.*306-25C>A) c.*402-25C>A (n.*402-25C>A) c.*546-25C>A (n.*546-25C>A) c.*772-25C>A (n.*772-25C>A) c.*978-25C>A (n.*978-25C>A) n.2078-25C>A n.2068-25C>A | dbSNP gnomAD v4 |
| 2 | g.47476342C= | CA2495873263 | MSH2 | c.2006-25C= (n.2006-25C=) c.1808-25C= (n.1808-25C=) c.*306-25C= (n.*306-25C=) c.*402-25C= (n.*402-25C=) c.*546-25C= (n.*546-25C=) c.*772-25C= (n.*772-25C=) c.*978-25C= (n.*978-25C=) n.2078-25C= n.2068-25C= | |
| 2 | g.47476342C>G | CA2658948432 | MSH2 | c.2006-25C>G (n.2006-25C>G) c.1808-25C>G (n.1808-25C>G) c.*306-25C>G (n.*306-25C>G) c.*402-25C>G (n.*402-25C>G) c.*546-25C>G (n.*546-25C>G) c.*772-25C>G (n.*772-25C>G) c.*978-25C>G (n.*978-25C>G) n.2078-25C>G n.2068-25C>G | dbSNP gnomAD v4 |
| 2 | g.47476342C>T | CA532705133 | MSH2 | c.2006-25C>T (n.2006-25C>T) c.1808-25C>T (n.1808-25C>T) c.*306-25C>T (n.*306-25C>T) c.*402-25C>T (n.*402-25C>T) c.*546-25C>T (n.*546-25C>T) c.*772-25C>T (n.*772-25C>T) c.*978-25C>T (n.*978-25C>T) n.2078-25C>T n.2068-25C>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47476343T>A | CA2699280567 | MSH2 | c.2006-24T>A (n.2006-24T>A) c.1808-24T>A (n.1808-24T>A) c.*306-24T>A (n.*306-24T>A) c.*402-24T>A (n.*402-24T>A) c.*546-24T>A (n.*546-24T>A) c.*772-24T>A (n.*772-24T>A) c.*978-24T>A (n.*978-24T>A) n.2078-24T>A n.2068-24T>A | dbSNP |
| 2 | g.47476344T>G | CA033153 | MSH2 | c.2006-23T>G (n.2006-23T>G) c.1808-23T>G (n.1808-23T>G) c.*306-23T>G (n.*306-23T>G) c.*402-23T>G (n.*402-23T>G) c.*546-23T>G (n.*546-23T>G) c.*772-23T>G (n.*772-23T>G) c.*978-23T>G (n.*978-23T>G) n.2078-23T>G n.2068-23T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47476344T= | CA2495873264 | MSH2 | c.2006-23T= (n.2006-23T=) c.1808-23T= (n.1808-23T=) c.*306-23T= (n.*306-23T=) c.*402-23T= (n.*402-23T=) c.*546-23T= (n.*546-23T=) c.*772-23T= (n.*772-23T=) c.*978-23T= (n.*978-23T=) n.2078-23T= n.2068-23T= | |
| 2 | g.47476345T>C | CA033146 | MSH2 | c.2006-22T>C (n.2006-22T>C) c.1808-22T>C (n.1808-22T>C) c.*306-22T>C (n.*306-22T>C) c.*402-22T>C (n.*402-22T>C) c.*546-22T>C (n.*546-22T>C) c.*772-22T>C (n.*772-22T>C) c.*978-22T>C (n.*978-22T>C) n.2078-22T>C n.2068-22T>C | dbSNP ExAC gnomAD v2 |
| 2 | g.47476345T= | CA2495873265 | MSH2 | c.2006-22T= (n.2006-22T=) c.1808-22T= (n.1808-22T=) c.*306-22T= (n.*306-22T=) c.*402-22T= (n.*402-22T=) c.*546-22T= (n.*546-22T=) c.*772-22T= (n.*772-22T=) c.*978-22T= (n.*978-22T=) n.2078-22T= n.2068-22T= | |
| 2 | g.47476346C= | CA2495873266 | MSH2 | c.2006-21C= (n.2006-21C=) c.1808-21C= (n.1808-21C=) c.*306-21C= (n.*306-21C=) c.*402-21C= (n.*402-21C=) c.*546-21C= (n.*546-21C=) c.*772-21C= (n.*772-21C=) c.*978-21C= (n.*978-21C=) n.2078-21C= n.2068-21C= | |
| 2 | g.47476346C>G | CA2495873267 | MSH2 | c.2006-21C>G (n.2006-21C>G) c.1808-21C>G (n.1808-21C>G) c.*306-21C>G (n.*306-21C>G) c.*402-21C>G (n.*402-21C>G) c.*546-21C>G (n.*546-21C>G) c.*772-21C>G (n.*772-21C>G) c.*978-21C>G (n.*978-21C>G) n.2078-21C>G n.2068-21C>G | dbSNP |
| 2 | g.47476346C>T | CA2576961039 | MSH2 | c.2006-21C>T (n.2006-21C>T) c.1808-21C>T (n.1808-21C>T) c.*306-21C>T (n.*306-21C>T) c.*402-21C>T (n.*402-21C>T) c.*546-21C>T (n.*546-21C>T) c.*772-21C>T (n.*772-21C>T) c.*978-21C>T (n.*978-21C>T) n.2078-21C>T n.2068-21C>T | dbSNP gnomAD v4 |
| 2 | g.47476347T>A | CA2699280669 | MSH2 | c.2006-20T>A (n.2006-20T>A) c.1808-20T>A (n.1808-20T>A) c.*306-20T>A (n.*306-20T>A) c.*402-20T>A (n.*402-20T>A) c.*546-20T>A (n.*546-20T>A) c.*772-20T>A (n.*772-20T>A) c.*978-20T>A (n.*978-20T>A) n.2078-20T>A n.2068-20T>A | dbSNP |
| 2 | g.47476348G>A | CA2699280705 | MSH2 | c.2006-19G>A (n.2006-19G>A) c.1808-19G>A (n.1808-19G>A) c.*306-19G>A (n.*306-19G>A) c.*402-19G>A (n.*402-19G>A) c.*546-19G>A (n.*546-19G>A) c.*772-19G>A (n.*772-19G>A) c.*978-19G>A (n.*978-19G>A) n.2078-19G>A n.2068-19G>A | dbSNP |
| 2 | g.47476348G>C | CA2699280704 | MSH2 | c.2006-19G>C (n.2006-19G>C) c.1808-19G>C (n.1808-19G>C) c.*306-19G>C (n.*306-19G>C) c.*402-19G>C (n.*402-19G>C) c.*546-19G>C (n.*546-19G>C) c.*772-19G>C (n.*772-19G>C) c.*978-19G>C (n.*978-19G>C) n.2078-19G>C n.2068-19G>C | dbSNP |
| 2 | g.47476348G>T | CA2580067116 | MSH2 | c.2006-19G>T (n.2006-19G>T) c.1808-19G>T (n.1808-19G>T) c.*306-19G>T (n.*306-19G>T) c.*402-19G>T (n.*402-19G>T) c.*546-19G>T (n.*546-19G>T) c.*772-19G>T (n.*772-19G>T) c.*978-19G>T (n.*978-19G>T) n.2078-19G>T n.2068-19G>T | ClinVar dbSNP |
| 2 | g.47476349A>T | CA2699280722 | MSH2 | c.2006-18A>T (n.2006-18A>T) c.1808-18A>T (n.1808-18A>T) c.*306-18A>T (n.*306-18A>T) c.*402-18A>T (n.*402-18A>T) c.*546-18A>T (n.*546-18A>T) c.*772-18A>T (n.*772-18A>T) c.*978-18A>T (n.*978-18A>T) n.2078-18A>T n.2068-18A>T | dbSNP |
| 2 | g.47476350T>A | CA2699111845 | MSH2 | c.2006-17T>A (n.2006-17T>A) c.1808-17T>A (n.1808-17T>A) c.*306-17T>A (n.*306-17T>A) c.*402-17T>A (n.*402-17T>A) c.*546-17T>A (n.*546-17T>A) c.*772-17T>A (n.*772-17T>A) c.*978-17T>A (n.*978-17T>A) n.2078-17T>A n.2068-17T>A | dbSNP |
| 2 | g.47476350T>C | CA769432880 | MSH2 | c.2006-17T>C (n.2006-17T>C) c.1808-17T>C (n.1808-17T>C) c.*306-17T>C (n.*306-17T>C) c.*402-17T>C (n.*402-17T>C) c.*546-17T>C (n.*546-17T>C) c.*772-17T>C (n.*772-17T>C) c.*978-17T>C (n.*978-17T>C) n.2078-17T>C n.2068-17T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47476350T>G | CA2697548040 | MSH2 | c.2006-17T>G (n.2006-17T>G) c.1808-17T>G (n.1808-17T>G) c.*306-17T>G (n.*306-17T>G) c.*402-17T>G (n.*402-17T>G) c.*546-17T>G (n.*546-17T>G) c.*772-17T>G (n.*772-17T>G) c.*978-17T>G (n.*978-17T>G) n.2078-17T>G n.2068-17T>G | ClinVar |
| 2 | g.47476350T= | CA2495873269 | MSH2 | c.2006-17T= (n.2006-17T=) c.1808-17T= (n.1808-17T=) c.*306-17T= (n.*306-17T=) c.*402-17T= (n.*402-17T=) c.*546-17T= (n.*546-17T=) c.*772-17T= (n.*772-17T=) c.*978-17T= (n.*978-17T=) n.2078-17T= n.2068-17T= |