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.47476409_47476472dup | CA331444 | MSH2 | c.2048_2111dup (p.Ile704MetfsTer16) c.1850_1913dup (p.Ile638MetfsTer16) c.*348_*411dup (n.*348_*411dup) c.*444_*507dup (n.*444_*507dup) c.*588_*651dup (n.*588_*651dup) c.*814_*877dup (n.*814_*877dup) c.*1020_*1083dup (n.*1020_*1083dup) n.2120_2183dup n.2110_2173dup | ClinVar dbSNP |
2 | g.47476416_47476443delinsAGTACTCATGGCCCAAATTGGGTGTTTT | CA2495873553 | MSH2 | c.2055_2082delinsAGTACTCATGGCCCAAATTGGGTGTTTT (p.Ile685=) c.1857_1884delinsAGTACTCATGGCCCAAATTGGGTGTTTT (p.Ile619=) c.*355_*382delinsAGTACTCATGGCCCAAATTGGGTGTTTT (n.*355_*382delinsAGTACTCATGGCCCAAATTGGGTGTTTT) c.*451_*478delinsAGTACTCATGGCCCAAATTGGGTGTTTT (n.*451_*478delinsAGTACTCATGGCCCAAATTGGGTGTTTT) c.*595_*622delinsAGTACTCATGGCCCAAATTGGGTGTTTT (n.*595_*622delinsAGTACTCATGGCCCAAATTGGGTGTTTT) c.*821_*848delinsAGTACTCATGGCCCAAATTGGGTGTTTT (n.*821_*848delinsAGTACTCATGGCCCAAATTGGGTGTTTT) c.*1027_*1054delinsAGTACTCATGGCCCAAATTGGGTGTTTT (n.*1027_*1054delinsAGTACTCATGGCCCAAATTGGGTGTTTT) n.2127_2154delinsAGTACTCATGGCCCAAATTGGGTGTTTT n.2117_2144delinsAGTACTCATGGCCCAAATTGGGTGTTTT | |
2 | g.47476417_47476443delinsTATATGTTGTGCCATGTGAATATA | CA019921 | MSH2 | c.2056_2082delinsTATATGTTGTGCCATGTGAATATA (p.Val686_Phe694delinsTyrMetLeuCysHisValAsnIle) c.1858_1884delinsTATATGTTGTGCCATGTGAATATA (p.Val620_Phe628delinsTyrMetLeuCysHisValAsnIle) c.*356_*382delinsTATATGTTGTGCCATGTGAATATA (n.*356_*382delinsTATATGTTGTGCCATGTGAATATA) c.*452_*478delinsTATATGTTGTGCCATGTGAATATA (n.*452_*478delinsTATATGTTGTGCCATGTGAATATA) c.*596_*622delinsTATATGTTGTGCCATGTGAATATA (n.*596_*622delinsTATATGTTGTGCCATGTGAATATA) c.*822_*848delinsTATATGTTGTGCCATGTGAATATA (n.*822_*848delinsTATATGTTGTGCCATGTGAATATA) c.*1028_*1054delinsTATATGTTGTGCCATGTGAATATA (n.*1028_*1054delinsTATATGTTGTGCCATGTGAATATA) n.2128_2154delinsTATATGTTGTGCCATGTGAATATA n.2118_2144delinsTATATGTTGTGCCATGTGAATATA | dbSNP |
2 | g.47476432_47476440delinsATTGGGTGT | CA2495873612 | MSH2 | c.2071_2079delinsATTGGGTGT (p.Ile691=) c.1873_1881delinsATTGGGTGT (p.Ile625=) c.*371_*379delinsATTGGGTGT (n.*371_*379delinsATTGGGTGT) c.*467_*475delinsATTGGGTGT (n.*467_*475delinsATTGGGTGT) c.*611_*619delinsATTGGGTGT (n.*611_*619delinsATTGGGTGT) c.*837_*845delinsATTGGGTGT (n.*837_*845delinsATTGGGTGT) c.*1043_*1051delinsATTGGGTGT (n.*1043_*1051delinsATTGGGTGT) n.2143_2151delinsATTGGGTGT n.2133_2141delinsATTGGGTGT | |
2 | g.47476433T>A | CA346729186 | MSH2 | c.2072T>A (p.Ile691Asn) c.1874T>A (p.Ile625Asn) c.*372T>A (n.*372T>A) c.*468T>A (n.*468T>A) c.*612T>A (n.*612T>A) c.*838T>A (n.*838T>A) c.*1044T>A (n.*1044T>A) n.2144T>A n.2134T>A | |
2 | g.47476433T>C | CA033486 | MSH2 | c.2072T>C (p.Ile691Thr) c.1874T>C (p.Ile625Thr) c.*372T>C (n.*372T>C) c.*468T>C (n.*468T>C) c.*612T>C (n.*612T>C) c.*838T>C (n.*838T>C) c.*1044T>C (n.*1044T>C) n.2144T>C n.2134T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47476433T>G | CA346729187 | MSH2 | c.2072T>G (p.Ile691Ser) c.1874T>G (p.Ile625Ser) c.*372T>G (n.*372T>G) c.*468T>G (n.*468T>G) c.*612T>G (n.*612T>G) c.*838T>G (n.*838T>G) c.*1044T>G (n.*1044T>G) n.2144T>G n.2134T>G | ClinVar dbSNP |
2 | g.47476433T= | CA2495873614 | MSH2 | c.2072T= (p.Ile691=) c.1874T= (p.Ile625=) c.*372T= (n.*372T=) c.*468T= (n.*468T=) c.*612T= (n.*612T=) c.*838T= (n.*838T=) c.*1044T= (n.*1044T=) n.2144T= n.2134T= | |
2 | g.47476434del | CA2582342388 | MSH2 | c.2073del (p.Ile691MetfsTer19) c.1875del (p.Ile625MetfsTer19) c.*373del (n.*373del) c.*469del (n.*469del) c.*613del (n.*613del) c.*839del (n.*839del) c.*1045del (n.*1045del) n.2145del n.2135del | ClinVar |
2 | g.47476435_47476442del | CA019958 | MSH2 | c.2074_2081del (p.Gly692CysfsTer4) c.1876_1883del (p.Gly626CysfsTer4) c.*374_*381del (n.*374_*381del) c.*470_*477del (n.*470_*477del) c.*614_*621del (n.*614_*621del) c.*840_*847del (n.*840_*847del) c.*1046_*1053del (n.*1046_*1053del) n.2146_2153del n.2136_2143del | ClinVar dbSNP |
2 | g.47476436_47476444dup | CA2580067172 | MSH2 | c.2075_2083dup (p.Phe694_Val695insGlyCysPhe) c.1877_1885dup (p.Phe628_Val629insGlyCysPhe) c.*375_*383dup (n.*375_*383dup) c.*471_*479dup (n.*471_*479dup) c.*615_*623dup (n.*615_*623dup) c.*841_*849dup (n.*841_*849dup) c.*1047_*1055dup (n.*1047_*1055dup) n.2147_2155dup n.2137_2145dup | ClinVar |
2 | g.47476434T>A | CA426120172 | MSH2 | c.2073T>A (p.Ile691=) c.1875T>A (p.Ile625=) c.*373T>A (n.*373T>A) c.*469T>A (n.*469T>A) c.*613T>A (n.*613T>A) c.*839T>A (n.*839T>A) c.*1045T>A (n.*1045T>A) n.2145T>A n.2135T>A | |
2 | g.47476434T>C | CA426120173 | MSH2 | c.2073T>C (p.Ile691=) c.1875T>C (p.Ile625=) c.*373T>C (n.*373T>C) c.*469T>C (n.*469T>C) c.*613T>C (n.*613T>C) c.*839T>C (n.*839T>C) c.*1045T>C (n.*1045T>C) n.2145T>C n.2135T>C | |
2 | g.47476434T>G | CA033506 | MSH2 | c.2073T>G (p.Ile691Met) c.1875T>G (p.Ile625Met) c.*373T>G (n.*373T>G) c.*469T>G (n.*469T>G) c.*613T>G (n.*613T>G) c.*839T>G (n.*839T>G) c.*1045T>G (n.*1045T>G) n.2145T>G n.2135T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47476434T= | CA2495873615 | MSH2 | c.2073T= (p.Ile691=) c.1875T= (p.Ile625=) c.*373T= (n.*373T=) c.*469T= (n.*469T=) c.*613T= (n.*613T=) c.*839T= (n.*839T=) c.*1045T= (n.*1045T=) n.2145T= n.2135T= | |
2 | g.47476435G>A | CA346729188 | MSH2 | c.2074G>A (p.Gly692Arg) c.1876G>A (p.Gly626Arg) c.*374G>A (n.*374G>A) c.*470G>A (n.*470G>A) c.*614G>A (n.*614G>A) c.*840G>A (n.*840G>A) c.*1046G>A (n.*1046G>A) n.2146G>A n.2136G>A | ClinVar dbSNP |
2 | g.47476435G>C | CA019963 | MSH2 | c.2074G>C (p.Gly692Arg) c.1876G>C (p.Gly626Arg) c.*374G>C (n.*374G>C) c.*470G>C (n.*470G>C) c.*614G>C (n.*614G>C) c.*840G>C (n.*840G>C) c.*1046G>C (n.*1046G>C) n.2146G>C n.2136G>C | ClinVar dbSNP |
2 | g.47476435G= | CA2495873616 | MSH2 | c.2074G= (p.Gly692=) c.1876G= (p.Gly626=) c.*374G= (n.*374G=) c.*470G= (n.*470G=) c.*614G= (n.*614G=) c.*840G= (n.*840G=) c.*1046G= (n.*1046G=) n.2146G= n.2136G= | |
2 | g.47476435G>T | CA346729189 | MSH2 | c.2074G>T (p.Gly692Trp) c.1876G>T (p.Gly626Trp) c.*374G>T (n.*374G>T) c.*470G>T (n.*470G>T) c.*614G>T (n.*614G>T) c.*840G>T (n.*840G>T) c.*1046G>T (n.*1046G>T) n.2146G>T n.2136G>T | ClinVar dbSNP COSMIC |
2 | g.47476437dup | CA2580067173 | MSH2 | c.2076dup (p.Cys693ValfsTer6) c.1878dup (p.Cys627ValfsTer6) c.*376dup (n.*376dup) c.*472dup (n.*472dup) c.*616dup (n.*616dup) c.*842dup (n.*842dup) c.*1048dup (n.*1048dup) n.2148dup n.2138dup | ClinVar |
2 | g.47476435_47476437dup | CA2580067174 | MSH2 | c.2074_2076dup (p.Gly692_Cys693insGly) c.1876_1878dup (p.Gly626_Cys627insGly) c.*374_*376dup (n.*374_*376dup) c.*470_*472dup (n.*470_*472dup) c.*614_*616dup (n.*614_*616dup) c.*840_*842dup (n.*840_*842dup) c.*1046_*1048dup (n.*1046_*1048dup) n.2146_2148dup n.2136_2138dup | ClinVar |
2 | g.47476437del | CA2699266860 | MSH2 | c.2076del (p.Cys693ValfsTer17) c.1878del (p.Cys627ValfsTer17) c.*376del (n.*376del) c.*472del (n.*472del) c.*616del (n.*616del) c.*842del (n.*842del) c.*1048del (n.*1048del) n.2148del n.2138del | dbSNP |
2 | g.47476436G>A | CA10588345 | MSH2 | c.2075G>A (p.Gly692Glu) c.1877G>A (p.Gly626Glu) c.*375G>A (n.*375G>A) c.*471G>A (n.*471G>A) c.*615G>A (n.*615G>A) c.*841G>A (n.*841G>A) c.*1047G>A (n.*1047G>A) n.2147G>A n.2137G>A | ClinVar dbSNP |
2 | g.47476436G>C | CA346729190 | MSH2 | c.2075G>C (p.Gly692Ala) c.1877G>C (p.Gly626Ala) c.*375G>C (n.*375G>C) c.*471G>C (n.*471G>C) c.*615G>C (n.*615G>C) c.*841G>C (n.*841G>C) c.*1047G>C (n.*1047G>C) n.2147G>C n.2137G>C | dbSNP |
2 | g.47476436G= | CA2495873617 | MSH2 | c.2075G= (p.Gly692=) c.1877G= (p.Gly626=) c.*375G= (n.*375G=) c.*471G= (n.*471G=) c.*615G= (n.*615G=) c.*841G= (n.*841G=) c.*1047G= (n.*1047G=) n.2147G= n.2137G= | |
2 | g.47476436G>T | CA019969 | MSH2 | c.2075G>T (p.Gly692Val) c.1877G>T (p.Gly626Val) c.*375G>T (n.*375G>T) c.*471G>T (n.*471G>T) c.*615G>T (n.*615G>T) c.*841G>T (n.*841G>T) c.*1047G>T (n.*1047G>T) n.2147G>T n.2137G>T | ClinVar dbSNP |
2 | g.47476437_47476444del | CA2586964859 | MSH2 | c.2076_2083del (p.Cys693AlafsTer3) c.1878_1885del (p.Cys627AlafsTer3) c.*376_*383del (n.*376_*383del) c.*472_*479del (n.*472_*479del) c.*616_*623del (n.*616_*623del) c.*842_*849del (n.*842_*849del) c.*1048_*1055del (n.*1048_*1055del) n.2148_2155del n.2138_2145del | |
2 | g.47476437G>A | CA16611047 | MSH2 | c.2076G>A (p.Gly692=) c.1878G>A (p.Gly626=) c.*376G>A (n.*376G>A) c.*472G>A (n.*472G>A) c.*616G>A (n.*616G>A) c.*842G>A (n.*842G>A) c.*1048G>A (n.*1048G>A) n.2148G>A n.2138G>A | ClinVar dbSNP |
2 | g.47476437G>C | CA426120179 | MSH2 | c.2076G>C (p.Gly692=) c.1878G>C (p.Gly626=) c.*376G>C (n.*376G>C) c.*472G>C (n.*472G>C) c.*616G>C (n.*616G>C) c.*842G>C (n.*842G>C) c.*1048G>C (n.*1048G>C) n.2148G>C n.2138G>C | dbSNP |
2 | g.47476437G= | CA2495873618 | MSH2 | c.2076G= (p.Gly692=) c.1878G= (p.Gly626=) c.*376G= (n.*376G=) c.*472G= (n.*472G=) c.*616G= (n.*616G=) c.*842G= (n.*842G=) c.*1048G= (n.*1048G=) n.2148G= n.2138G= | |
2 | g.47476437G>T | CA426120182 | MSH2 | c.2076G>T (p.Gly692=) c.1878G>T (p.Gly626=) c.*376G>T (n.*376G>T) c.*472G>T (n.*472G>T) c.*616G>T (n.*616G>T) c.*842G>T (n.*842G>T) c.*1048G>T (n.*1048G>T) n.2148G>T n.2138G>T | dbSNP |
2 | g.47476438T>A | CA346729191 | MSH2 | c.2077T>A (p.Cys693Ser) c.1879T>A (p.Cys627Ser) c.*377T>A (n.*377T>A) c.*473T>A (n.*473T>A) c.*617T>A (n.*617T>A) c.*843T>A (n.*843T>A) c.*1049T>A (n.*1049T>A) n.2149T>A n.2139T>A | dbSNP |
2 | g.47476438T>C | CA346729192 | MSH2 | c.2077T>C (p.Cys693Arg) c.1879T>C (p.Cys627Arg) c.*377T>C (n.*377T>C) c.*473T>C (n.*473T>C) c.*617T>C (n.*617T>C) c.*843T>C (n.*843T>C) c.*1049T>C (n.*1049T>C) n.2149T>C n.2139T>C | ClinVar dbSNP |
2 | g.47476438T>G | CA346729193 | MSH2 | c.2077T>G (p.Cys693Gly) c.1879T>G (p.Cys627Gly) c.*377T>G (n.*377T>G) c.*473T>G (n.*473T>G) c.*617T>G (n.*617T>G) c.*843T>G (n.*843T>G) c.*1049T>G (n.*1049T>G) n.2149T>G n.2139T>G | dbSNP gnomAD v4 |
2 | g.47476438T= | CA2495873619 | MSH2 | c.2077T= (p.Cys693=) c.1879T= (p.Cys627=) c.*377T= (n.*377T=) c.*473T= (n.*473T=) c.*617T= (n.*617T=) c.*843T= (n.*843T=) c.*1049T= (n.*1049T=) n.2149T= n.2139T= | |
2 | g.47476439del | CA2580067175 | MSH2 | c.2078del (p.Cys693PhefsTer17) c.1880del (p.Cys627PhefsTer17) c.*378del (n.*378del) c.*474del (n.*474del) c.*618del (n.*618del) c.*844del (n.*844del) c.*1050del (n.*1050del) n.2150del n.2140del | ClinVar |
2 | g.47476439G>A | CA16609274 | MSH2 | c.2078G>A (p.Cys693Tyr) c.1880G>A (p.Cys627Tyr) c.*378G>A (n.*378G>A) c.*474G>A (n.*474G>A) c.*618G>A (n.*618G>A) c.*844G>A (n.*844G>A) c.*1050G>A (n.*1050G>A) n.2150G>A n.2140G>A | ClinVar dbSNP |
2 | g.47476439G>C | CA346729194 | MSH2 | c.2078G>C (p.Cys693Ser) c.1880G>C (p.Cys627Ser) c.*378G>C (n.*378G>C) c.*474G>C (n.*474G>C) c.*618G>C (n.*618G>C) c.*844G>C (n.*844G>C) c.*1050G>C (n.*1050G>C) n.2150G>C n.2140G>C | |
2 | g.47476439G= | CA2495873621 | MSH2 | c.2078G= (p.Cys693=) c.1880G= (p.Cys627=) c.*378G= (n.*378G=) c.*474G= (n.*474G=) c.*618G= (n.*618G=) c.*844G= (n.*844G=) c.*1050G= (n.*1050G=) n.2150G= n.2140G= | |
2 | g.47476439G>T | CA346729195 | MSH2 | c.2078G>T (p.Cys693Phe) c.1880G>T (p.Cys627Phe) c.*378G>T (n.*378G>T) c.*474G>T (n.*474G>T) c.*618G>T (n.*618G>T) c.*844G>T (n.*844G>T) c.*1050G>T (n.*1050G>T) n.2150G>T n.2140G>T | |
2 | g.47476439_47476440delinsGT | CA2495873620 | MSH2 | c.2078_2079delinsGT (p.Cys693=) c.1880_1881delinsGT (p.Cys627=) c.*378_*379delinsGT (n.*378_*379delinsGT) c.*474_*475delinsGT (n.*474_*475delinsGT) c.*618_*619delinsGT (n.*618_*619delinsGT) c.*844_*845delinsGT (n.*844_*845delinsGT) c.*1050_*1051delinsGT (n.*1050_*1051delinsGT) n.2150_2151delinsGT n.2140_2141delinsGT | |
2 | g.47476440T>A | CA346729196 | MSH2 | c.2079T>A (p.Cys693Ter) c.1881T>A (p.Cys627Ter) c.*379T>A (n.*379T>A) c.*475T>A (n.*475T>A) c.*619T>A (n.*619T>A) c.*845T>A (n.*845T>A) c.*1051T>A (n.*1051T>A) n.2151T>A n.2141T>A | ClinVar dbSNP |
2 | g.47476440T>C | CA426120194 | MSH2 | c.2079T>C (p.Cys693=) c.1881T>C (p.Cys627=) c.*379T>C (n.*379T>C) c.*475T>C (n.*475T>C) c.*619T>C (n.*619T>C) c.*845T>C (n.*845T>C) c.*1051T>C (n.*1051T>C) n.2151T>C n.2141T>C | dbSNP |
2 | g.47476440T>G | CA346729197 | MSH2 | c.2079T>G (p.Cys693Trp) c.1881T>G (p.Cys627Trp) c.*379T>G (n.*379T>G) c.*475T>G (n.*475T>G) c.*619T>G (n.*619T>G) c.*845T>G (n.*845T>G) c.*1051T>G (n.*1051T>G) n.2151T>G n.2141T>G | ClinVar dbSNP |