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.47476360_47476383del | CA2499216062 | MSH2 | c.2006-7_2022del c.1808-7_1824del c.*306-7_*322del c.*402-7_*418del c.*546-7_*562del c.*772-7_*788del c.*978-7_*994del n.2078-7_2094del n.2068-7_2084del | ClinVar dbSNP |
2 | g.47476362del | CA2658948434 | MSH2 | c.2006-5del (n.2006-5del) c.1808-5del (n.1808-5del) c.*306-5del (n.*306-5del) c.*402-5del (n.*402-5del) c.*546-5del (n.*546-5del) c.*772-5del (n.*772-5del) c.*978-5del (n.*978-5del) n.2078-5del n.2068-5del | gnomAD v4 |
2 | g.47476361T>A | CA46702149 | MSH2 | c.2006-6T>A (n.2006-6T>A) c.1808-6T>A (n.1808-6T>A) c.*306-6T>A (n.*306-6T>A) c.*402-6T>A (n.*402-6T>A) c.*546-6T>A (n.*546-6T>A) c.*772-6T>A (n.*772-6T>A) c.*978-6T>A (n.*978-6T>A) n.2078-6T>A n.2068-6T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47476361T>C | CA019764 | MSH2 | c.2006-6T>C (n.2006-6T>C) c.1808-6T>C (n.1808-6T>C) c.*306-6T>C (n.*306-6T>C) c.*402-6T>C (n.*402-6T>C) c.*546-6T>C (n.*546-6T>C) c.*772-6T>C (n.*772-6T>C) c.*978-6T>C (n.*978-6T>C) n.2078-6T>C n.2068-6T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47476361T>G | CA019771 | MSH2 | c.2006-6T>G (n.2006-6T>G) c.1808-6T>G (n.1808-6T>G) c.*306-6T>G (n.*306-6T>G) c.*402-6T>G (n.*402-6T>G) c.*546-6T>G (n.*546-6T>G) c.*772-6T>G (n.*772-6T>G) c.*978-6T>G (n.*978-6T>G) n.2078-6T>G n.2068-6T>G | dbSNP |
2 | g.47476361T= | CA2495873283 | MSH2 | c.2006-6T= (n.2006-6T=) c.1808-6T= (n.1808-6T=) c.*306-6T= (n.*306-6T=) c.*402-6T= (n.*402-6T=) c.*546-6T= (n.*546-6T=) c.*772-6T= (n.*772-6T=) c.*978-6T= (n.*978-6T=) n.2078-6T= n.2068-6T= | |
2 | g.47476361_47476362delinsCA | CA2586964839 | MSH2 | c.2006-6_2006-5delinsCA (n.2006-6_2006-5delinsCA) c.1808-6_1808-5delinsCA (n.1808-6_1808-5delinsCA) c.*306-6_*306-5delinsCA (n.*306-6_*306-5delinsCA) c.*402-6_*402-5delinsCA (n.*402-6_*402-5delinsCA) c.*546-6_*546-5delinsCA (n.*546-6_*546-5delinsCA) c.*772-6_*772-5delinsCA (n.*772-6_*772-5delinsCA) c.*978-6_*978-5delinsCA (n.*978-6_*978-5delinsCA) n.2078-6_2078-5delinsCA n.2068-6_2068-5delinsCA | |
2 | g.47476361_47476365delinsCTGTG | CA2695200685 | MSH2 | c.2006-6_2006-2delinsCTGTG (n.2006-6_2006-2delinsCTGTG) c.1808-6_1808-2delinsCTGTG (n.1808-6_1808-2delinsCTGTG) c.*306-6_*306-2delinsCTGTG (n.*306-6_*306-2delinsCTGTG) c.*402-6_*402-2delinsCTGTG (n.*402-6_*402-2delinsCTGTG) c.*546-6_*546-2delinsCTGTG (n.*546-6_*546-2delinsCTGTG) c.*772-6_*772-2delinsCTGTG (n.*772-6_*772-2delinsCTGTG) c.*978-6_*978-2delinsCTGTG (n.*978-6_*978-2delinsCTGTG) n.2078-6_2078-2delinsCTGTG n.2068-6_2068-2delinsCTGTG | ClinVar |
2 | g.47476362T>A | CA019761 | MSH2 | c.2006-5T>A (n.2006-5T>A) c.1808-5T>A (n.1808-5T>A) c.*306-5T>A (n.*306-5T>A) c.*402-5T>A (n.*402-5T>A) c.*546-5T>A (n.*546-5T>A) c.*772-5T>A (n.*772-5T>A) c.*978-5T>A (n.*978-5T>A) n.2078-5T>A n.2068-5T>A | ClinVar dbSNP |
2 | g.47476362T>C | CA16604161 | MSH2 | c.2006-5T>C (n.2006-5T>C) c.1808-5T>C (n.1808-5T>C) c.*306-5T>C (n.*306-5T>C) c.*402-5T>C (n.*402-5T>C) c.*546-5T>C (n.*546-5T>C) c.*772-5T>C (n.*772-5T>C) c.*978-5T>C (n.*978-5T>C) n.2078-5T>C n.2068-5T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47476362T= | CA2495873286 | MSH2 | c.2006-5T= (n.2006-5T=) c.1808-5T= (n.1808-5T=) c.*306-5T= (n.*306-5T=) c.*402-5T= (n.*402-5T=) c.*546-5T= (n.*546-5T=) c.*772-5T= (n.*772-5T=) c.*978-5T= (n.*978-5T=) n.2078-5T= n.2068-5T= | |
2 | g.47476363G>A | CA019756 | MSH2 | c.2006-4G>A (n.2006-4G>A) c.1808-4G>A (n.1808-4G>A) c.*306-4G>A (n.*306-4G>A) c.*402-4G>A (n.*402-4G>A) c.*546-4G>A (n.*546-4G>A) c.*772-4G>A (n.*772-4G>A) c.*978-4G>A (n.*978-4G>A) n.2078-4G>A n.2068-4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47476363G>C | CA2580067120 | MSH2 | c.2006-4G>C (n.2006-4G>C) c.1808-4G>C (n.1808-4G>C) c.*306-4G>C (n.*306-4G>C) c.*402-4G>C (n.*402-4G>C) c.*546-4G>C (n.*546-4G>C) c.*772-4G>C (n.*772-4G>C) c.*978-4G>C (n.*978-4G>C) n.2078-4G>C n.2068-4G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47476363G= | CA2495873288 | MSH2 | c.2006-4G= (n.2006-4G=) c.1808-4G= (n.1808-4G=) c.*306-4G= (n.*306-4G=) c.*402-4G= (n.*402-4G=) c.*546-4G= (n.*546-4G=) c.*772-4G= (n.*772-4G=) c.*978-4G= (n.*978-4G=) n.2078-4G= n.2068-4G= | |
2 | g.47476363G>T | CA645514876 | MSH2 | c.2006-4G>T (n.2006-4G>T) c.1808-4G>T (n.1808-4G>T) c.*306-4G>T (n.*306-4G>T) c.*402-4G>T (n.*402-4G>T) c.*546-4G>T (n.*546-4G>T) c.*772-4G>T (n.*772-4G>T) c.*978-4G>T (n.*978-4G>T) n.2078-4G>T n.2068-4G>T | COSMIC |
2 | g.47476363_47476365delinsCT | CA2695200686 | MSH2 | c.2006-4_2006-2delinsCT (n.2006-4_2006-2delinsCT) c.1808-4_1808-2delinsCT (n.1808-4_1808-2delinsCT) c.*306-4_*306-2delinsCT (n.*306-4_*306-2delinsCT) c.*402-4_*402-2delinsCT (n.*402-4_*402-2delinsCT) c.*546-4_*546-2delinsCT (n.*546-4_*546-2delinsCT) c.*772-4_*772-2delinsCT (n.*772-4_*772-2delinsCT) c.*978-4_*978-2delinsCT (n.*978-4_*978-2delinsCT) n.2078-4_2078-2delinsCT n.2068-4_2068-2delinsCT | ClinVar |
2 | g.47476364T>C | CA915943835 | MSH2 | c.2006-3T>C (n.2006-3T>C) c.1808-3T>C (n.1808-3T>C) c.*306-3T>C (n.*306-3T>C) c.*402-3T>C (n.*402-3T>C) c.*546-3T>C (n.*546-3T>C) c.*772-3T>C (n.*772-3T>C) c.*978-3T>C (n.*978-3T>C) n.2078-3T>C n.2068-3T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47476364T>G | CA658655726 | MSH2 | c.2006-3T>G (n.2006-3T>G) c.1808-3T>G (n.1808-3T>G) c.*306-3T>G (n.*306-3T>G) c.*402-3T>G (n.*402-3T>G) c.*546-3T>G (n.*546-3T>G) c.*772-3T>G (n.*772-3T>G) c.*978-3T>G (n.*978-3T>G) n.2078-3T>G n.2068-3T>G | ClinVar dbSNP |
2 | g.47476364T= | CA2495873292 | MSH2 | c.2006-3T= (n.2006-3T=) c.1808-3T= (n.1808-3T=) c.*306-3T= (n.*306-3T=) c.*402-3T= (n.*402-3T=) c.*546-3T= (n.*546-3T=) c.*772-3T= (n.*772-3T=) c.*978-3T= (n.*978-3T=) n.2078-3T= n.2068-3T= | |
2 | g.47476365A= | CA2495873295 | MSH2 | c.2006-2A= (n.2006-2A=) c.1808-2A= (n.1808-2A=) c.*306-2A= (n.*306-2A=) c.*402-2A= (n.*402-2A=) c.*546-2A= (n.*546-2A=) c.*772-2A= (n.*772-2A=) c.*978-2A= (n.*978-2A=) n.2078-2A= n.2068-2A= | |
2 | g.47476365A>C | CA346729072 | MSH2 | c.2006-2A>C (n.2006-2A>C) c.1808-2A>C (n.1808-2A>C) c.*306-2A>C (n.*306-2A>C) c.*402-2A>C (n.*402-2A>C) c.*546-2A>C (n.*546-2A>C) c.*772-2A>C (n.*772-2A>C) c.*978-2A>C (n.*978-2A>C) n.2078-2A>C n.2068-2A>C | ClinVar |
2 | g.47476365A>G | CA019751 | MSH2 | c.2006-2A>G (n.2006-2A>G) c.1808-2A>G (n.1808-2A>G) c.*306-2A>G (n.*306-2A>G) c.*402-2A>G (n.*402-2A>G) c.*546-2A>G (n.*546-2A>G) c.*772-2A>G (n.*772-2A>G) c.*978-2A>G (n.*978-2A>G) n.2078-2A>G n.2068-2A>G | ClinVar dbSNP |
2 | g.47476365A>T | CA346729073 | MSH2 | c.2006-2A>T (n.2006-2A>T) c.1808-2A>T (n.1808-2A>T) c.*306-2A>T (n.*306-2A>T) c.*402-2A>T (n.*402-2A>T) c.*546-2A>T (n.*546-2A>T) c.*772-2A>T (n.*772-2A>T) c.*978-2A>T (n.*978-2A>T) n.2078-2A>T n.2068-2A>T | ClinVar dbSNP |
2 | g.47476366_47476373del | CA2580067121 | MSH2 | c.2006-1_2012del c.1808-1_1814del c.*306-1_*312del c.*402-1_*408del c.*546-1_*552del c.*772-1_*778del c.*978-1_*984del n.2078-1_2084del n.2068-1_2074del | ClinVar |
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.47476366G>A | CA346729075 | MSH2 | c.2006-1G>A (n.2006-1G>A) c.1808-1G>A (n.1808-1G>A) c.*306-1G>A (n.*306-1G>A) c.*402-1G>A (n.*402-1G>A) c.*546-1G>A (n.*546-1G>A) c.*772-1G>A (n.*772-1G>A) c.*978-1G>A (n.*978-1G>A) n.2078-1G>A n.2068-1G>A | ClinVar dbSNP |
2 | g.47476366G>C | CA019741 | MSH2 | c.2006-1G>C (n.2006-1G>C) c.1808-1G>C (n.1808-1G>C) c.*306-1G>C (n.*306-1G>C) c.*402-1G>C (n.*402-1G>C) c.*546-1G>C (n.*546-1G>C) c.*772-1G>C (n.*772-1G>C) c.*978-1G>C (n.*978-1G>C) n.2078-1G>C n.2068-1G>C | ClinVar dbSNP |
2 | g.47476366G= | CA2495873297 | MSH2 | c.2006-1G= (n.2006-1G=) c.1808-1G= (n.1808-1G=) c.*306-1G= (n.*306-1G=) c.*402-1G= (n.*402-1G=) c.*546-1G= (n.*546-1G=) c.*772-1G= (n.*772-1G=) c.*978-1G= (n.*978-1G=) n.2078-1G= n.2068-1G= | |
2 | g.47476366G>T | CA346729074 | MSH2 | c.2006-1G>T (n.2006-1G>T) c.1808-1G>T (n.1808-1G>T) c.*306-1G>T (n.*306-1G>T) c.*402-1G>T (n.*402-1G>T) c.*546-1G>T (n.*546-1G>T) c.*772-1G>T (n.*772-1G>T) c.*978-1G>T (n.*978-1G>T) n.2078-1G>T n.2068-1G>T | ClinVar dbSNP |
2 | g.47476367del | CA2580067122 | MSH2 | c.2006del c.1808del c.*306del c.*402del c.*546del c.*772del c.*978del n.2078del n.2068del | ClinVar |
2 | g.47476367G>A | CA019774 | MSH2 | c.2006G>A (p.Gly669Asp) c.1808G>A (p.Gly603Asp) c.*306G>A (n.*306G>A) c.*402G>A (n.*402G>A) c.*546G>A (n.*546G>A) c.*772G>A (n.*772G>A) c.*978G>A (n.*978G>A) n.2078G>A n.2068G>A | ClinVar dbSNP COSMIC |
2 | g.47476367G>C | CA019779 | MSH2 | c.2006G>C (p.Gly669Ala) c.1808G>C (p.Gly603Ala) c.*306G>C (n.*306G>C) c.*402G>C (n.*402G>C) c.*546G>C (n.*546G>C) c.*772G>C (n.*772G>C) c.*978G>C (n.*978G>C) n.2078G>C n.2068G>C | ClinVar dbSNP |
2 | g.47476367G= | CA2495873306 | MSH2 | c.2006G= (p.Gly669=) c.1808G= (p.Gly603=) c.*306G= (n.*306G=) c.*402G= (n.*402G=) c.*546G= (n.*546G=) c.*772G= (n.*772G=) c.*978G= (n.*978G=) n.2078G= n.2068G= | |
2 | g.47476367G>T | CA019785 | MSH2 | c.2006G>T (p.Gly669Val) c.1808G>T (p.Gly603Val) c.*306G>T (n.*306G>T) c.*402G>T (n.*402G>T) c.*546G>T (n.*546G>T) c.*772G>T (n.*772G>T) c.*978G>T (n.*978G>T) n.2078G>T n.2068G>T | ClinVar dbSNP |
2 | g.47476367_47476368delinsGC | CA2495873303 | MSH2 | c.2006_2007delinsGC (p.Gly669=) c.1808_1809delinsGC (p.Gly603=) c.*306_*307delinsGC (n.*306_*307delinsGC) c.*402_*403delinsGC (n.*402_*403delinsGC) c.*546_*547delinsGC (n.*546_*547delinsGC) c.*772_*773delinsGC (n.*772_*773delinsGC) c.*978_*979delinsGC (n.*978_*979delinsGC) n.2078_2079delinsGC n.2068_2069delinsGC | |
2 | g.47476367_47476368delinsTT | CA2580067124 | MSH2 | c.2006_2007delinsTT (p.Gly669Val) c.1808_1809delinsTT (p.Gly603Val) c.*306_*307delinsTT (n.*306_*307delinsTT) c.*402_*403delinsTT (n.*402_*403delinsTT) c.*546_*547delinsTT (n.*546_*547delinsTT) c.*772_*773delinsTT (n.*772_*773delinsTT) c.*978_*979delinsTT (n.*978_*979delinsTT) n.2078_2079delinsTT n.2068_2069delinsTT | ClinVar |
2 | g.47476368C>A | CA426119921 | MSH2 | c.2007C>A (p.Gly669=) c.1809C>A (p.Gly603=) c.*307C>A (n.*307C>A) c.*403C>A (n.*403C>A) c.*547C>A (n.*547C>A) c.*773C>A (n.*773C>A) c.*979C>A (n.*979C>A) n.2079C>A n.2069C>A | dbSNP |
2 | g.47476368C>G | CA426119920 | MSH2 | c.2007C>G (p.Gly669=) c.1809C>G (p.Gly603=) c.*307C>G (n.*307C>G) c.*403C>G (n.*403C>G) c.*547C>G (n.*547C>G) c.*773C>G (n.*773C>G) c.*979C>G (n.*979C>G) n.2079C>G n.2069C>G | dbSNP |
2 | g.47476368C>T | CA426119913 | MSH2 | c.2007C>T (p.Gly669=) c.1809C>T (p.Gly603=) c.*307C>T (n.*307C>T) c.*403C>T (n.*403C>T) c.*547C>T (n.*547C>T) c.*773C>T (n.*773C>T) c.*979C>T (n.*979C>T) n.2079C>T n.2069C>T | ClinVar dbSNP |
2 | g.47476371dup | CA915943836 | MSH2 | c.2010dup (p.Asn671GlnfsTer5) c.1812dup (p.Asn605GlnfsTer5) c.*310dup (n.*310dup) c.*406dup (n.*406dup) c.*550dup (n.*550dup) c.*776dup (n.*776dup) c.*982dup (n.*982dup) n.2082dup n.2072dup | ClinVar dbSNP |
2 | g.47476371del | CA019800 | MSH2 | c.2010del (p.Asn671IlefsTer14) c.1812del (p.Asn605IlefsTer14) c.*310del (n.*310del) c.*406del (n.*406del) c.*550del (n.*550del) c.*776del (n.*776del) c.*982del (n.*982del) n.2082del n.2072del | ClinVar dbSNP |
2 | g.47476369C>A | CA346729077 | MSH2 | c.2008C>A (p.Pro670Thr) c.1810C>A (p.Pro604Thr) c.*308C>A (n.*308C>A) c.*404C>A (n.*404C>A) c.*548C>A (n.*548C>A) c.*774C>A (n.*774C>A) c.*980C>A (n.*980C>A) n.2080C>A n.2070C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47476369C= | CA2495873311 | MSH2 | c.2008C= (p.Pro670=) c.1810C= (p.Pro604=) c.*308C= (n.*308C=) c.*404C= (n.*404C=) c.*548C= (n.*548C=) c.*774C= (n.*774C=) c.*980C= (n.*980C=) n.2080C= n.2070C= | |
2 | g.47476369C>G | CA346729078 | MSH2 | c.2008C>G (p.Pro670Ala) c.1810C>G (p.Pro604Ala) c.*308C>G (n.*308C>G) c.*404C>G (n.*404C>G) c.*548C>G (n.*548C>G) c.*774C>G (n.*774C>G) c.*980C>G (n.*980C>G) n.2080C>G n.2070C>G | dbSNP |
2 | g.47476369C>T | CA346729079 | MSH2 | c.2008C>T (p.Pro670Ser) c.1810C>T (p.Pro604Ser) c.*308C>T (n.*308C>T) c.*404C>T (n.*404C>T) c.*548C>T (n.*548C>T) c.*774C>T (n.*774C>T) c.*980C>T (n.*980C>T) n.2080C>T n.2070C>T | ClinVar dbSNP gnomAD v4 |