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.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.47476365_47476572del | CA2499216063 | MSH2 | c.2006-2_2210+1del c.1808-2_2012+1del c.*306-2_*510+1del c.*402-2_*606+1del c.*546-2_*750+1del c.*772-2_*976+1del c.*978-2_*1182+1del n.2078-2_2282+1del n.2068-2_2272+1del | ClinVar dbSNP |
2 | g.47476384A= | CA2495873393 | MSH2 | c.2023A= (p.Lys675=) c.1825A= (p.Lys609=) c.*323A= (n.*323A=) c.*419A= (n.*419A=) c.*563A= (n.*563A=) c.*789A= (n.*789A=) c.*995A= (n.*995A=) n.2095A= n.2085A= | |
2 | g.47476384A>C | CA346729101 | MSH2 | c.2023A>C (p.Lys675Gln) c.1825A>C (p.Lys609Gln) c.*323A>C (n.*323A>C) c.*419A>C (n.*419A>C) c.*563A>C (n.*563A>C) c.*789A>C (n.*789A>C) c.*995A>C (n.*995A>C) n.2095A>C n.2085A>C | ClinVar |
2 | g.47476384A>G | CA16611041 | MSH2 | c.2023A>G (p.Lys675Glu) c.1825A>G (p.Lys609Glu) c.*323A>G (n.*323A>G) c.*419A>G (n.*419A>G) c.*563A>G (n.*563A>G) c.*789A>G (n.*789A>G) c.*995A>G (n.*995A>G) n.2095A>G n.2085A>G | ClinVar dbSNP |
2 | g.47476384A>T | CA346729102 | MSH2 | c.2023A>T (p.Lys675Ter) c.1825A>T (p.Lys609Ter) c.*323A>T (n.*323A>T) c.*419A>T (n.*419A>T) c.*563A>T (n.*563A>T) c.*789A>T (n.*789A>T) c.*995A>T (n.*995A>T) n.2095A>T n.2085A>T | ClinVar dbSNP |
2 | g.47476384_47476386delinsAAA | CA2495873390 | MSH2 | c.2023_2025delinsAAA (p.Lys675=) c.1825_1827delinsAAA (p.Lys609=) c.*323_*325delinsAAA (n.*323_*325delinsAAA) c.*419_*421delinsAAA (n.*419_*421delinsAAA) c.*563_*565delinsAAA (n.*563_*565delinsAAA) c.*789_*791delinsAAA (n.*789_*791delinsAAA) c.*995_*997delinsAAA (n.*995_*997delinsAAA) n.2095_2097delinsAAA n.2085_2087delinsAAA | |
2 | g.47476384_47476386delinsGCC | CA019847 | MSH2 | c.2023_2025delinsGCC (p.Lys675Ala) c.1825_1827delinsGCC (p.Lys609Ala) c.*323_*325delinsGCC (n.*323_*325delinsGCC) c.*419_*421delinsGCC (n.*419_*421delinsGCC) c.*563_*565delinsGCC (n.*563_*565delinsGCC) c.*789_*791delinsGCC (n.*789_*791delinsGCC) c.*995_*997delinsGCC (n.*995_*997delinsGCC) n.2095_2097delinsGCC n.2085_2087delinsGCC | dbSNP |
2 | g.47476385A= | CA2495873396 | MSH2 | c.2024A= (p.Lys675=) c.1826A= (p.Lys609=) c.*324A= (n.*324A=) c.*420A= (n.*420A=) c.*564A= (n.*564A=) c.*790A= (n.*790A=) c.*996A= (n.*996A=) n.2096A= n.2086A= | |
2 | g.47476385A>C | CA346729103 | MSH2 | c.2024A>C (p.Lys675Thr) c.1826A>C (p.Lys609Thr) c.*324A>C (n.*324A>C) c.*420A>C (n.*420A>C) c.*564A>C (n.*564A>C) c.*790A>C (n.*790A>C) c.*996A>C (n.*996A>C) n.2096A>C n.2086A>C | |
2 | g.47476385A>G | CA46702349 | MSH2 | c.2024A>G (p.Lys675Arg) c.1826A>G (p.Lys609Arg) c.*324A>G (n.*324A>G) c.*420A>G (n.*420A>G) c.*564A>G (n.*564A>G) c.*790A>G (n.*790A>G) c.*996A>G (n.*996A>G) n.2096A>G n.2086A>G | dbSNP |
2 | g.47476385A>T | CA346729104 | MSH2 | c.2024A>T (p.Lys675Ile) c.1826A>T (p.Lys609Ile) c.*324A>T (n.*324A>T) c.*420A>T (n.*420A>T) c.*564A>T (n.*564A>T) c.*790A>T (n.*790A>T) c.*996A>T (n.*996A>T) n.2096A>T n.2086A>T | dbSNP |
2 | g.47476386A>C | CA346729105 | MSH2 | c.2025A>C (p.Lys675Asn) c.1827A>C (p.Lys609Asn) c.*325A>C (n.*325A>C) c.*421A>C (n.*421A>C) c.*565A>C (n.*565A>C) c.*791A>C (n.*791A>C) c.*997A>C (n.*997A>C) n.2097A>C n.2087A>C | |
2 | g.47476386A>G | CA426119975 | MSH2 | c.2025A>G (p.Lys675=) c.1827A>G (p.Lys609=) c.*325A>G (n.*325A>G) c.*421A>G (n.*421A>G) c.*565A>G (n.*565A>G) c.*791A>G (n.*791A>G) c.*997A>G (n.*997A>G) n.2097A>G n.2087A>G | |
2 | g.47476386A>T | CA346729106 | MSH2 | c.2025A>T (p.Lys675Asn) c.1827A>T (p.Lys609Asn) c.*325A>T (n.*325A>T) c.*421A>T (n.*421A>T) c.*565A>T (n.*565A>T) c.*791A>T (n.*791A>T) c.*997A>T (n.*997A>T) n.2097A>T n.2087A>T | dbSNP |
2 | g.47476387T>A | CA346729107 | MSH2 | c.2026T>A (p.Ser676Thr) c.1828T>A (p.Ser610Thr) c.*326T>A (n.*326T>A) c.*422T>A (n.*422T>A) c.*566T>A (n.*566T>A) c.*792T>A (n.*792T>A) c.*998T>A (n.*998T>A) n.2098T>A n.2088T>A | dbSNP |
2 | g.47476387T>C | CA019850 | MSH2 | c.2026T>C (p.Ser676Pro) c.1828T>C (p.Ser610Pro) c.*326T>C (n.*326T>C) c.*422T>C (n.*422T>C) c.*566T>C (n.*566T>C) c.*792T>C (n.*792T>C) c.*998T>C (n.*998T>C) n.2098T>C n.2088T>C | ClinVar dbSNP COSMIC |
2 | g.47476387T>G | CA346729108 | MSH2 | c.2026T>G (p.Ser676Ala) c.1828T>G (p.Ser610Ala) c.*326T>G (n.*326T>G) c.*422T>G (n.*422T>G) c.*566T>G (n.*566T>G) c.*792T>G (n.*792T>G) c.*998T>G (n.*998T>G) n.2098T>G n.2088T>G | |
2 | g.47476387T= | CA2495873398 | MSH2 | c.2026T= (p.Ser676=) c.1828T= (p.Ser610=) c.*326T= (n.*326T=) c.*422T= (n.*422T=) c.*566T= (n.*566T=) c.*792T= (n.*792T=) c.*998T= (n.*998T=) n.2098T= n.2088T= | |
2 | g.47476388C>A | CA346729110 | MSH2 | c.2027C>A (p.Ser676Ter) c.1829C>A (p.Ser610Ter) c.*327C>A (n.*327C>A) c.*423C>A (n.*423C>A) c.*567C>A (n.*567C>A) c.*793C>A (n.*793C>A) c.*999C>A (n.*999C>A) n.2099C>A n.2089C>A | ClinVar dbSNP |
2 | g.47476388C= | CA2495873405 | MSH2 | c.2027C= (p.Ser676=) c.1829C= (p.Ser610=) c.*327C= (n.*327C=) c.*423C= (n.*423C=) c.*567C= (n.*567C=) c.*793C= (n.*793C=) c.*999C= (n.*999C=) n.2099C= n.2089C= | |
2 | g.47476388C>G | CA16604545 | MSH2 | c.2027C>G (p.Ser676Ter) c.1829C>G (p.Ser610Ter) c.*327C>G (n.*327C>G) c.*423C>G (n.*423C>G) c.*567C>G (n.*567C>G) c.*793C>G (n.*793C>G) c.*999C>G (n.*999C>G) n.2099C>G n.2089C>G | ClinVar dbSNP |
2 | g.47476388C>T | CA346729109 | MSH2 | c.2027C>T (p.Ser676Leu) c.1829C>T (p.Ser610Leu) c.*327C>T (n.*327C>T) c.*423C>T (n.*423C>T) c.*567C>T (n.*567C>T) c.*793C>T (n.*793C>T) c.*999C>T (n.*999C>T) n.2099C>T n.2089C>T | ClinVar dbSNP COSMIC |
2 | g.47476389A= | CA2495873416 | MSH2 | c.2028A= (p.Ser676=) c.1830A= (p.Ser610=) c.*328A= (n.*328A=) c.*424A= (n.*424A=) c.*568A= (n.*568A=) c.*794A= (n.*794A=) c.*1000A= (n.*1000A=) n.2100A= n.2090A= | |
2 | g.47476389A>C | CA426119982 | MSH2 | c.2028A>C (p.Ser676=) c.1830A>C (p.Ser610=) c.*328A>C (n.*328A>C) c.*424A>C (n.*424A>C) c.*568A>C (n.*568A>C) c.*794A>C (n.*794A>C) c.*1000A>C (n.*1000A>C) n.2100A>C n.2090A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47476389A>G | CA16604265 | MSH2 | c.2028A>G (p.Ser676=) c.1830A>G (p.Ser610=) c.*328A>G (n.*328A>G) c.*424A>G (n.*424A>G) c.*568A>G (n.*568A>G) c.*794A>G (n.*794A>G) c.*1000A>G (n.*1000A>G) n.2100A>G n.2090A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47476389A>T | CA426119983 | MSH2 | c.2028A>T (p.Ser676=) c.1830A>T (p.Ser610=) c.*328A>T (n.*328A>T) c.*424A>T (n.*424A>T) c.*568A>T (n.*568A>T) c.*794A>T (n.*794A>T) c.*1000A>T (n.*1000A>T) n.2100A>T n.2090A>T | dbSNP |
2 | g.47476390A= | CA2495873424 | MSH2 | c.2029A= (p.Thr677=) c.1831A= (p.Thr611=) c.*329A= (n.*329A=) c.*425A= (n.*425A=) c.*569A= (n.*569A=) c.*795A= (n.*795A=) c.*1001A= (n.*1001A=) n.2101A= n.2091A= | |
2 | g.47476390A>C | CA346729111 | MSH2 | c.2029A>C (p.Thr677Pro) c.1831A>C (p.Thr611Pro) c.*329A>C (n.*329A>C) c.*425A>C (n.*425A>C) c.*569A>C (n.*569A>C) c.*795A>C (n.*795A>C) c.*1001A>C (n.*1001A>C) n.2101A>C n.2091A>C | |
2 | g.47476390A>G | CA346729112 | MSH2 | c.2029A>G (p.Thr677Ala) c.1831A>G (p.Thr611Ala) c.*329A>G (n.*329A>G) c.*425A>G (n.*425A>G) c.*569A>G (n.*569A>G) c.*795A>G (n.*795A>G) c.*1001A>G (n.*1001A>G) n.2101A>G n.2091A>G | ClinVar dbSNP |
2 | g.47476390A>T | CA346729113 | MSH2 | c.2029A>T (p.Thr677Ser) c.1831A>T (p.Thr611Ser) c.*329A>T (n.*329A>T) c.*425A>T (n.*425A>T) c.*569A>T (n.*569A>T) c.*795A>T (n.*795A>T) c.*1001A>T (n.*1001A>T) n.2101A>T n.2091A>T | dbSNP |
2 | g.47476391C>A | CA346729114 | MSH2 | c.2030C>A (p.Thr677Lys) c.1832C>A (p.Thr611Lys) c.*330C>A (n.*330C>A) c.*426C>A (n.*426C>A) c.*570C>A (n.*570C>A) c.*796C>A (n.*796C>A) c.*1002C>A (n.*1002C>A) n.2102C>A n.2092C>A | dbSNP |
2 | g.47476391C= | CA2495873427 | MSH2 | c.2030C= (p.Thr677=) c.1832C= (p.Thr611=) c.*330C= (n.*330C=) c.*426C= (n.*426C=) c.*570C= (n.*570C=) c.*796C= (n.*796C=) c.*1002C= (n.*1002C=) n.2102C= n.2092C= | |
2 | g.47476391C>G | CA10577995 | MSH2 | c.2030C>G (p.Thr677Arg) c.1832C>G (p.Thr611Arg) c.*330C>G (n.*330C>G) c.*426C>G (n.*426C>G) c.*570C>G (n.*570C>G) c.*796C>G (n.*796C>G) c.*1002C>G (n.*1002C>G) n.2102C>G n.2092C>G | ClinVar dbSNP |
2 | g.47476391C>T | CA346729115 | MSH2 | c.2030C>T (p.Thr677Ile) c.1832C>T (p.Thr611Ile) c.*330C>T (n.*330C>T) c.*426C>T (n.*426C>T) c.*570C>T (n.*570C>T) c.*796C>T (n.*796C>T) c.*1002C>T (n.*1002C>T) n.2102C>T n.2092C>T | dbSNP |
2 | g.47476391_47476393delinsCAT | CA2495873426 | MSH2 | c.2030_2032delinsCAT (p.Thr677=) c.1832_1834delinsCAT (p.Thr611=) c.*330_*332delinsCAT (n.*330_*332delinsCAT) c.*426_*428delinsCAT (n.*426_*428delinsCAT) c.*570_*572delinsCAT (n.*570_*572delinsCAT) c.*796_*798delinsCAT (n.*796_*798delinsCAT) c.*1002_*1004delinsCAT (n.*1002_*1004delinsCAT) n.2102_2104delinsCAT n.2092_2094delinsCAT | |
2 | g.47476392A= | CA2495873435 | MSH2 | c.2031A= (p.Thr677=) c.1833A= (p.Thr611=) c.*331A= (n.*331A=) c.*427A= (n.*427A=) c.*571A= (n.*571A=) c.*797A= (n.*797A=) c.*1003A= (n.*1003A=) n.2103A= n.2093A= | |
2 | g.47476392A>C | CA426119990 | MSH2 | c.2031A>C (p.Thr677=) c.1833A>C (p.Thr611=) c.*331A>C (n.*331A>C) c.*427A>C (n.*427A>C) c.*571A>C (n.*571A>C) c.*797A>C (n.*797A>C) c.*1003A>C (n.*1003A>C) n.2103A>C n.2093A>C | ClinVar |
2 | g.47476392A>G | CA019857 | MSH2 | c.2031A>G (p.Thr677=) c.1833A>G (p.Thr611=) c.*331A>G (n.*331A>G) c.*427A>G (n.*427A>G) c.*571A>G (n.*571A>G) c.*797A>G (n.*797A>G) c.*1003A>G (n.*1003A>G) n.2103A>G n.2093A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47476392A>T | CA426119994 | MSH2 | c.2031A>T (p.Thr677=) c.1833A>T (p.Thr611=) c.*331A>T (n.*331A>T) c.*427A>T (n.*427A>T) c.*571A>T (n.*571A>T) c.*797A>T (n.*797A>T) c.*1003A>T (n.*1003A>T) n.2103A>T n.2093A>T | dbSNP |
2 | g.47476396_47476397del | CA019861 | MSH2 | c.2035_2036del (p.Ile679SerfsTer19) c.1837_1838del (p.Ile613SerfsTer19) c.*335_*336del (n.*335_*336del) c.*431_*432del (n.*431_*432del) c.*575_*576del (n.*575_*576del) c.*801_*802del (n.*801_*802del) c.*1007_*1008del (n.*1007_*1008del) n.2107_2108del n.2097_2098del | ClinVar dbSNP gnomAD v4 |
2 | g.47476393T>A | CA346729116 | MSH2 | c.2032T>A (p.Tyr678Asn) c.1834T>A (p.Tyr612Asn) c.*332T>A (n.*332T>A) c.*428T>A (n.*428T>A) c.*572T>A (n.*572T>A) c.*798T>A (n.*798T>A) c.*1004T>A (n.*1004T>A) n.2104T>A n.2094T>A | dbSNP |
2 | g.47476393T>C | CA10577996 | MSH2 | c.2032T>C (p.Tyr678His) c.1834T>C (p.Tyr612His) c.*332T>C (n.*332T>C) c.*428T>C (n.*428T>C) c.*572T>C (n.*572T>C) c.*798T>C (n.*798T>C) c.*1004T>C (n.*1004T>C) n.2104T>C n.2094T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47476393T>G | CA346729117 | MSH2 | c.2032T>G (p.Tyr678Asp) c.1834T>G (p.Tyr612Asp) c.*332T>G (n.*332T>G) c.*428T>G (n.*428T>G) c.*572T>G (n.*572T>G) c.*798T>G (n.*798T>G) c.*1004T>G (n.*1004T>G) n.2104T>G n.2094T>G | |
2 | g.47476393T= | CA2495873444 | MSH2 | c.2032T= (p.Tyr678=) c.1834T= (p.Tyr612=) c.*332T= (n.*332T=) c.*428T= (n.*428T=) c.*572T= (n.*572T=) c.*798T= (n.*798T=) c.*1004T= (n.*1004T=) n.2104T= n.2094T= | |
2 | g.47476394A= | CA2495873450 | MSH2 | c.2033A= (p.Tyr678=) c.1835A= (p.Tyr612=) c.*333A= (n.*333A=) c.*429A= (n.*429A=) c.*573A= (n.*573A=) c.*799A= (n.*799A=) c.*1005A= (n.*1005A=) n.2105A= n.2095A= |