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.47476420_47476421delinsCT | CA2495873564 | MSH2 | c.2059_2060delinsCT (p.Leu687=) c.1861_1862delinsCT (p.Leu621=) c.*359_*360delinsCT (n.*359_*360delinsCT) c.*455_*456delinsCT (n.*455_*456delinsCT) c.*599_*600delinsCT (n.*599_*600delinsCT) c.*825_*826delinsCT (n.*825_*826delinsCT) c.*1031_*1032delinsCT (n.*1031_*1032delinsCT) n.2131_2132delinsCT n.2121_2122delinsCT | |
2 | g.47476421del | CA915943837 | MSH2 | c.2060del (p.Leu687ProfsTer23) c.1862del (p.Leu621ProfsTer23) c.*360del (n.*360del) c.*456del (n.*456del) c.*600del (n.*600del) c.*826del (n.*826del) c.*1032del (n.*1032del) n.2132del n.2122del | ClinVar dbSNP |
2 | g.47476421T>A | CA346729163 | MSH2 | c.2060T>A (p.Leu687His) c.1862T>A (p.Leu621His) c.*360T>A (n.*360T>A) c.*456T>A (n.*456T>A) c.*600T>A (n.*600T>A) c.*826T>A (n.*826T>A) c.*1032T>A (n.*1032T>A) n.2132T>A n.2122T>A | |
2 | g.47476421T>C | CA019927 | MSH2 | c.2060T>C (p.Leu687Pro) c.1862T>C (p.Leu621Pro) c.*360T>C (n.*360T>C) c.*456T>C (n.*456T>C) c.*600T>C (n.*600T>C) c.*826T>C (n.*826T>C) c.*1032T>C (n.*1032T>C) n.2132T>C n.2122T>C | ClinVar dbSNP |
2 | g.47476421T>G | CA346729164 | MSH2 | c.2060T>G (p.Leu687Arg) c.1862T>G (p.Leu621Arg) c.*360T>G (n.*360T>G) c.*456T>G (n.*456T>G) c.*600T>G (n.*600T>G) c.*826T>G (n.*826T>G) c.*1032T>G (n.*1032T>G) n.2132T>G n.2122T>G | ClinVar |
2 | g.47476421T= | CA2495873572 | MSH2 | c.2060T= (p.Leu687=) c.1862T= (p.Leu621=) c.*360T= (n.*360T=) c.*456T= (n.*456T=) c.*600T= (n.*600T=) c.*826T= (n.*826T=) c.*1032T= (n.*1032T=) n.2132T= n.2122T= | |
2 | g.47476422C>A | CA426120128 | MSH2 | c.2061C>A (p.Leu687=) c.1863C>A (p.Leu621=) c.*361C>A (n.*361C>A) c.*457C>A (n.*457C>A) c.*601C>A (n.*601C>A) c.*827C>A (n.*827C>A) c.*1033C>A (n.*1033C>A) n.2133C>A n.2123C>A | dbSNP |
2 | g.47476422C= | CA2495873580 | MSH2 | c.2061C= (p.Leu687=) c.1863C= (p.Leu621=) c.*361C= (n.*361C=) c.*457C= (n.*457C=) c.*601C= (n.*601C=) c.*827C= (n.*827C=) c.*1033C= (n.*1033C=) n.2133C= n.2123C= | |
2 | g.47476422C>G | CA019932 | MSH2 | c.2061C>G (p.Leu687=) c.1863C>G (p.Leu621=) c.*361C>G (n.*361C>G) c.*457C>G (n.*457C>G) c.*601C>G (n.*601C>G) c.*827C>G (n.*827C>G) c.*1033C>G (n.*1033C>G) n.2133C>G n.2123C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47476422C>T | CA426120130 | MSH2 | c.2061C>T (p.Leu687=) c.1863C>T (p.Leu621=) c.*361C>T (n.*361C>T) c.*457C>T (n.*457C>T) c.*601C>T (n.*601C>T) c.*827C>T (n.*827C>T) c.*1033C>T (n.*1033C>T) n.2133C>T n.2123C>T | ClinVar dbSNP |
2 | g.47476423A= | CA2495873587 | MSH2 | c.2062A= (p.Met688=) c.1864A= (p.Met622=) c.*362A= (n.*362A=) c.*458A= (n.*458A=) c.*602A= (n.*602A=) c.*828A= (n.*828A=) c.*1034A= (n.*1034A=) n.2134A= n.2124A= | |
2 | g.47476423A>C | CA346729165 | MSH2 | c.2062A>C (p.Met688Leu) c.1864A>C (p.Met622Leu) c.*362A>C (n.*362A>C) c.*458A>C (n.*458A>C) c.*602A>C (n.*602A>C) c.*828A>C (n.*828A>C) c.*1034A>C (n.*1034A>C) n.2134A>C n.2124A>C | ClinVar dbSNP |
2 | g.47476423A>G | CA346729166 | MSH2 | c.2062A>G (p.Met688Val) c.1864A>G (p.Met622Val) c.*362A>G (n.*362A>G) c.*458A>G (n.*458A>G) c.*602A>G (n.*602A>G) c.*828A>G (n.*828A>G) c.*1034A>G (n.*1034A>G) n.2134A>G n.2124A>G | ClinVar dbSNP COSMIC |
2 | g.47476423A>T | CA346729167 | MSH2 | c.2062A>T (p.Met688Leu) c.1864A>T (p.Met622Leu) c.*362A>T (n.*362A>T) c.*458A>T (n.*458A>T) c.*602A>T (n.*602A>T) c.*828A>T (n.*828A>T) c.*1034A>T (n.*1034A>T) n.2134A>T n.2124A>T | dbSNP |
2 | g.47476424T>A | CA346729168 | MSH2 | c.2063T>A (p.Met688Lys) c.1865T>A (p.Met622Lys) c.*363T>A (n.*363T>A) c.*459T>A (n.*459T>A) c.*603T>A (n.*603T>A) c.*829T>A (n.*829T>A) c.*1035T>A (n.*1035T>A) n.2135T>A n.2125T>A | |
2 | g.47476424T>C | CA346729169 | MSH2 | c.2063T>C (p.Met688Thr) c.1865T>C (p.Met622Thr) c.*363T>C (n.*363T>C) c.*459T>C (n.*459T>C) c.*603T>C (n.*603T>C) c.*829T>C (n.*829T>C) c.*1035T>C (n.*1035T>C) n.2135T>C n.2125T>C | ClinVar dbSNP |
2 | g.47476424T>G | CA019937 | MSH2 | c.2063T>G (p.Met688Arg) c.1865T>G (p.Met622Arg) c.*363T>G (n.*363T>G) c.*459T>G (n.*459T>G) c.*603T>G (n.*603T>G) c.*829T>G (n.*829T>G) c.*1035T>G (n.*1035T>G) n.2135T>G n.2125T>G | ClinVar dbSNP |
2 | g.47476424T= | CA2495873592 | MSH2 | c.2063T= (p.Met688=) c.1865T= (p.Met622=) c.*363T= (n.*363T=) c.*459T= (n.*459T=) c.*603T= (n.*603T=) c.*829T= (n.*829T=) c.*1035T= (n.*1035T=) n.2135T= n.2125T= | |
2 | g.47476425G>A | CA019942 | MSH2 | c.2064G>A (p.Met688Ile) c.1866G>A (p.Met622Ile) c.*364G>A (n.*364G>A) c.*460G>A (n.*460G>A) c.*604G>A (n.*604G>A) c.*830G>A (n.*830G>A) c.*1036G>A (n.*1036G>A) n.2136G>A n.2126G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47476425G>C | CA346729170 | MSH2 | c.2064G>C (p.Met688Ile) c.1866G>C (p.Met622Ile) c.*364G>C (n.*364G>C) c.*460G>C (n.*460G>C) c.*604G>C (n.*604G>C) c.*830G>C (n.*830G>C) c.*1036G>C (n.*1036G>C) n.2136G>C n.2126G>C | dbSNP |
2 | g.47476425G= | CA2495873601 | MSH2 | c.2064G= (p.Met688=) c.1866G= (p.Met622=) c.*364G= (n.*364G=) c.*460G= (n.*460G=) c.*604G= (n.*604G=) c.*830G= (n.*830G=) c.*1036G= (n.*1036G=) n.2136G= n.2126G= | |
2 | g.47476425G>T | CA346729171 | MSH2 | c.2064G>T (p.Met688Ile) c.1866G>T (p.Met622Ile) c.*364G>T (n.*364G>T) c.*460G>T (n.*460G>T) c.*604G>T (n.*604G>T) c.*830G>T (n.*830G>T) c.*1036G>T (n.*1036G>T) n.2136G>T n.2126G>T | dbSNP |
2 | g.47476425_47476426delinsAA | CA2499216064 | MSH2 | c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr) c.1866_1867delinsAA (p.Met622_Ala623delinsIleThr) c.*364_*365delinsAA (n.*364_*365delinsAA) c.*460_*461delinsAA (n.*460_*461delinsAA) c.*604_*605delinsAA (n.*604_*605delinsAA) c.*830_*831delinsAA (n.*830_*831delinsAA) c.*1036_*1037delinsAA (n.*1036_*1037delinsAA) n.2136_2137delinsAA n.2126_2127delinsAA | ClinVar dbSNP |
2 | g.47476426G>A | CA346729172 | MSH2 | c.2065G>A (p.Ala689Thr) c.1867G>A (p.Ala623Thr) c.*365G>A (n.*365G>A) c.*461G>A (n.*461G>A) c.*605G>A (n.*605G>A) c.*831G>A (n.*831G>A) c.*1037G>A (n.*1037G>A) n.2137G>A n.2127G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47476426G>C | CA346729173 | MSH2 | c.2065G>C (p.Ala689Pro) c.1867G>C (p.Ala623Pro) c.*365G>C (n.*365G>C) c.*461G>C (n.*461G>C) c.*605G>C (n.*605G>C) c.*831G>C (n.*831G>C) c.*1037G>C (n.*1037G>C) n.2137G>C n.2127G>C | ClinVar dbSNP |
2 | g.47476426G= | CA2495873606 | MSH2 | c.2065G= (p.Ala689=) c.1867G= (p.Ala623=) c.*365G= (n.*365G=) c.*461G= (n.*461G=) c.*605G= (n.*605G=) c.*831G= (n.*831G=) c.*1037G= (n.*1037G=) n.2137G= n.2127G= | |
2 | g.47476426G>T | CA46702482 | MSH2 | c.2065G>T (p.Ala689Ser) c.1867G>T (p.Ala623Ser) c.*365G>T (n.*365G>T) c.*461G>T (n.*461G>T) c.*605G>T (n.*605G>T) c.*831G>T (n.*831G>T) c.*1037G>T (n.*1037G>T) n.2137G>T n.2127G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47476427C>A | CA346729174 | MSH2 | c.2066C>A (p.Ala689Asp) c.1868C>A (p.Ala623Asp) c.*366C>A (n.*366C>A) c.*462C>A (n.*462C>A) c.*606C>A (n.*606C>A) c.*832C>A (n.*832C>A) c.*1038C>A (n.*1038C>A) n.2138C>A n.2128C>A | ClinVar dbSNP |
2 | g.47476427C= | CA2495873607 | MSH2 | c.2066C= (p.Ala689=) c.1868C= (p.Ala623=) c.*366C= (n.*366C=) c.*462C= (n.*462C=) c.*606C= (n.*606C=) c.*832C= (n.*832C=) c.*1038C= (n.*1038C=) n.2138C= n.2128C= | |
2 | g.47476427C>G | CA346729175 | MSH2 | c.2066C>G (p.Ala689Gly) c.1868C>G (p.Ala623Gly) c.*366C>G (n.*366C>G) c.*462C>G (n.*462C>G) c.*606C>G (n.*606C>G) c.*832C>G (n.*832C>G) c.*1038C>G (n.*1038C>G) n.2138C>G n.2128C>G | dbSNP |
2 | g.47476427C>T | CA16611044 | MSH2 | c.2066C>T (p.Ala689Val) c.1868C>T (p.Ala623Val) c.*366C>T (n.*366C>T) c.*462C>T (n.*462C>T) c.*606C>T (n.*606C>T) c.*832C>T (n.*832C>T) c.*1038C>T (n.*1038C>T) n.2138C>T n.2128C>T | ClinVar dbSNP |
2 | g.47476428C>A | CA426120158 | MSH2 | c.2067C>A (p.Ala689=) c.1869C>A (p.Ala623=) c.*367C>A (n.*367C>A) c.*463C>A (n.*463C>A) c.*607C>A (n.*607C>A) c.*833C>A (n.*833C>A) c.*1039C>A (n.*1039C>A) n.2139C>A n.2129C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47476428C= | CA2495873608 | MSH2 | c.2067C= (p.Ala689=) c.1869C= (p.Ala623=) c.*367C= (n.*367C=) c.*463C= (n.*463C=) c.*607C= (n.*607C=) c.*833C= (n.*833C=) c.*1039C= (n.*1039C=) n.2139C= n.2129C= | |
2 | g.47476428C>G | CA426120159 | MSH2 | c.2067C>G (p.Ala689=) c.1869C>G (p.Ala623=) c.*367C>G (n.*367C>G) c.*463C>G (n.*463C>G) c.*607C>G (n.*607C>G) c.*833C>G (n.*833C>G) c.*1039C>G (n.*1039C>G) n.2139C>G n.2129C>G | ClinVar dbSNP |
2 | g.47476428C>T | CA46702500 | MSH2 | c.2067C>T (p.Ala689=) c.1869C>T (p.Ala623=) c.*367C>T (n.*367C>T) c.*463C>T (n.*463C>T) c.*607C>T (n.*607C>T) c.*833C>T (n.*833C>T) c.*1039C>T (n.*1039C>T) n.2139C>T n.2129C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47476429C>A | CA346729177 | MSH2 | c.2068C>A (p.Gln690Lys) c.1870C>A (p.Gln624Lys) c.*368C>A (n.*368C>A) c.*464C>A (n.*464C>A) c.*608C>A (n.*608C>A) c.*834C>A (n.*834C>A) c.*1040C>A (n.*1040C>A) n.2140C>A n.2130C>A | ClinVar dbSNP |
2 | g.47476429C= | CA2495873609 | MSH2 | c.2068C= (p.Gln690=) c.1870C= (p.Gln624=) c.*368C= (n.*368C=) c.*464C= (n.*464C=) c.*608C= (n.*608C=) c.*834C= (n.*834C=) c.*1040C= (n.*1040C=) n.2140C= n.2130C= | |
2 | g.47476429C>G | CA019948 | MSH2 | c.2068C>G (p.Gln690Glu) c.1870C>G (p.Gln624Glu) c.*368C>G (n.*368C>G) c.*464C>G (n.*464C>G) c.*608C>G (n.*608C>G) c.*834C>G (n.*834C>G) c.*1040C>G (n.*1040C>G) n.2140C>G n.2130C>G | dbSNP |
2 | g.47476429C>T | CA346729176 | MSH2 | c.2068C>T (p.Gln690Ter) c.1870C>T (p.Gln624Ter) c.*368C>T (n.*368C>T) c.*464C>T (n.*464C>T) c.*608C>T (n.*608C>T) c.*834C>T (n.*834C>T) c.*1040C>T (n.*1040C>T) n.2140C>T n.2130C>T | ClinVar dbSNP |
2 | g.47476430A= | CA2495873610 | MSH2 | c.2069A= (p.Gln690=) c.1871A= (p.Gln624=) c.*369A= (n.*369A=) c.*465A= (n.*465A=) c.*609A= (n.*609A=) c.*835A= (n.*835A=) c.*1041A= (n.*1041A=) n.2141A= n.2131A= | |
2 | g.47476430A>C | CA346729178 | MSH2 | c.2069A>C (p.Gln690Pro) c.1871A>C (p.Gln624Pro) c.*369A>C (n.*369A>C) c.*465A>C (n.*465A>C) c.*609A>C (n.*609A>C) c.*835A>C (n.*835A>C) c.*1041A>C (n.*1041A>C) n.2141A>C n.2131A>C |