| 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.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.47476380_47476382del | CA2580067137 | MSH2 | c.2019_2021del (p.Gly674del) c.1821_1823del (p.Gly608del) c.*319_*321del (n.*319_*321del) c.*415_*417del (n.*415_*417del) c.*559_*561del (n.*559_*561del) c.*785_*787del (n.*785_*787del) c.*991_*993del (n.*991_*993del) n.2091_2093del n.2081_2083del | ClinVar |
| 2 | g.47476382dup | CA2586964849 | MSH2 | c.2021dup (p.Lys675Ter) c.1823dup (p.Lys609Ter) c.*321dup (n.*321dup) c.*417dup (n.*417dup) c.*561dup (n.*561dup) c.*787dup (n.*787dup) c.*993dup (n.*993dup) n.2093dup n.2083dup | |
| 2 | g.47476381_47476383delinsGGT | CA2495873376 | MSH2 | c.2020_2022delinsGGT (p.Gly674=) c.1822_1824delinsGGT (p.Gly608=) c.*320_*322delinsGGT (n.*320_*322delinsGGT) c.*416_*418delinsGGT (n.*416_*418delinsGGT) c.*560_*562delinsGGT (n.*560_*562delinsGGT) c.*786_*788delinsGGT (n.*786_*788delinsGGT) c.*992_*994delinsGGT (n.*992_*994delinsGGT) n.2092_2094delinsGGT n.2082_2084delinsGGT | |
| 2 | g.47476382G>A | CA019835 | MSH2 | c.2021G>A (p.Gly674Asp) c.1823G>A (p.Gly608Asp) c.*321G>A (n.*321G>A) c.*417G>A (n.*417G>A) c.*561G>A (n.*561G>A) c.*787G>A (n.*787G>A) c.*993G>A (n.*993G>A) n.2093G>A n.2083G>A | ClinVar dbSNP |
| 2 | g.47476382G>C | CA46702316 | MSH2 | c.2021G>C (p.Gly674Ala) c.1823G>C (p.Gly608Ala) c.*321G>C (n.*321G>C) c.*417G>C (n.*417G>C) c.*561G>C (n.*561G>C) c.*787G>C (n.*787G>C) c.*993G>C (n.*993G>C) n.2093G>C n.2083G>C | dbSNP |
| 2 | g.47476382G= | CA2495873381 | MSH2 | c.2021G= (p.Gly674=) c.1823G= (p.Gly608=) c.*321G= (n.*321G=) c.*417G= (n.*417G=) c.*561G= (n.*561G=) c.*787G= (n.*787G=) c.*993G= (n.*993G=) n.2093G= n.2083G= | |
| 2 | g.47476382G>T | CA346729100 | MSH2 | c.2021G>T (p.Gly674Val) c.1823G>T (p.Gly608Val) c.*321G>T (n.*321G>T) c.*417G>T (n.*417G>T) c.*561G>T (n.*561G>T) c.*787G>T (n.*787G>T) c.*993G>T (n.*993G>T) n.2093G>T n.2083G>T | ClinVar dbSNP |
| 2 | g.47476382_47476383del | CA019830 | MSH2 | c.2021_2022del (p.Gly674GlufsTer24) c.1823_1824del (p.Gly608GlufsTer24) c.*321_*322del (n.*321_*322del) c.*417_*418del (n.*417_*418del) c.*561_*562del (n.*561_*562del) c.*787_*788del (n.*787_*788del) c.*993_*994del (n.*993_*994del) n.2093_2094del n.2083_2084del | ClinVar dbSNP |
| 2 | g.47476383T>A | CA426119963 | MSH2 | c.2022T>A (p.Gly674=) c.1824T>A (p.Gly608=) c.*322T>A (n.*322T>A) c.*418T>A (n.*418T>A) c.*562T>A (n.*562T>A) c.*788T>A (n.*788T>A) c.*994T>A (n.*994T>A) n.2094T>A n.2084T>A | ClinVar |
| 2 | g.47476383T>C | CA019840 | MSH2 | c.2022T>C (p.Gly674=) c.1824T>C (p.Gly608=) c.*322T>C (n.*322T>C) c.*418T>C (n.*418T>C) c.*562T>C (n.*562T>C) c.*788T>C (n.*788T>C) c.*994T>C (n.*994T>C) n.2094T>C n.2084T>C | ClinVar dbSNP |
| 2 | g.47476383T>G | CA426119960 | MSH2 | c.2022T>G (p.Gly674=) c.1824T>G (p.Gly608=) c.*322T>G (n.*322T>G) c.*418T>G (n.*418T>G) c.*562T>G (n.*562T>G) c.*788T>G (n.*788T>G) c.*994T>G (n.*994T>G) n.2094T>G n.2084T>G | dbSNP |
| 2 | g.47476383T= | CA2495873387 | MSH2 | c.2022T= (p.Gly674=) c.1824T= (p.Gly608=) c.*322T= (n.*322T=) c.*418T= (n.*418T=) c.*562T= (n.*562T=) c.*788T= (n.*788T=) c.*994T= (n.*994T=) n.2094T= n.2084T= | |
| 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= |