Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47401439_47411294del | CA331194 | ClinVar | ||
2 | g.47403192_47408555del | CA2581463442 | MSH2 | c.1_366del c.-31+17_168del n.73_438del n.63_428del | |
2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
2 | g.47408396_47408551delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA | CA2495830047 | MSH2 | c.212-5_362delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA c.14-5_164delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA n.284-5_434delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA n.274-5_424delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA | |
2 | g.47408397_47408552del | CA2499215995 | MSH2 | c.212-4_363del c.14-4_165del n.284-4_435del n.274-4_425del | ClinVar dbSNP |
2 | g.47408402_47408556del | CA645372532 | MSH2 | c.213_366+1del c.15_168+1del n.285_438+1del n.275_428+1del | ClinVar dbSNP |
2 | g.47408399_47408556del | CA2499215996 | MSH2 | c.212-2_366+1del c.14-2_168+1del n.284-2_438+1del n.274-2_428+1del | ClinVar dbSNP |
2 | g.47408400_47409267del | CA2499215997 | MSH2 | c.212-1_366+712del c.14-1_168+712del n.284-1_438+712del n.274-1_428+712del | ClinVar dbSNP |
2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
2 | g.47408400_47408556dup | CA2499215998 | MSH2 | c.212-1_366+1dup c.14-1_168+1dup n.284-1_438+1dup n.274-1_428+1dup | ClinVar |
2 | g.47408458_47408479dup | CA251947 | MSH2 | c.269_290dup (p.Tyr98ArgfsTer9) c.71_92dup (p.Tyr32ArgfsTer9) n.341_362dup n.331_352dup | ClinVar dbSNP |
2 | g.47408461_47408464delinsATCT | CA2495830238 | MSH2 | c.272_275delinsATCT (p.Asp91=) c.74_77delinsATCT (p.Asp25=) n.344_347delinsATCT n.334_337delinsATCT | |
2 | g.47408461_47408465dup | CA2697548097 | MSH2 | c.272_276dup (p.Leu93IlefsTer?) c.74_78dup (p.Leu27IlefsTer?) n.344_348dup n.334_338dup | ClinVar |
2 | g.47408468_47408470dup | CA645531409 | MSH2 | c.279_281dup (p.Leu94_Val95insLeu) c.81_83dup (p.Leu28_Val29insLeu) n.351_353dup n.341_343dup | dbSNP COSMIC |
2 | g.47408468_47408470del | CA020948 | MSH2 | c.279_281del (p.Leu94del) c.81_83del (p.Leu28del) n.351_353del n.341_343del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408463del | CA2580067419 | MSH2 | c.274del (p.Leu92PhefsTer?) c.76del (p.Leu26PhefsTer?) n.346del n.336del | ClinVar |
2 | g.47408463C>A | CA346729579 | MSH2 | c.274C>A (p.Leu92Ile) c.76C>A (p.Leu26Ile) n.346C>A n.336C>A | ClinVar dbSNP |
2 | g.47408463C= | CA2495830241 | MSH2 | c.274C= (p.Leu92=) c.76C= (p.Leu26=) n.346C= n.336C= | |
2 | g.47408463C>G | CA020916 | MSH2 | c.274C>G (p.Leu92Val) c.76C>G (p.Leu26Val) n.346C>G n.336C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408463C>T | CA10584203 | MSH2 | c.274C>T (p.Leu92Phe) c.76C>T (p.Leu26Phe) n.346C>T n.336C>T | ClinVar dbSNP |
2 | g.47408464T>A | CA346729581 | MSH2 | c.275T>A (p.Leu92His) c.77T>A (p.Leu26His) n.347T>A n.337T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408464T>C | CA346729582 | MSH2 | c.275T>C (p.Leu92Pro) c.77T>C (p.Leu26Pro) n.347T>C n.337T>C | ClinVar dbSNP |
2 | g.47408464T>G | CA346729580 | MSH2 | c.275T>G (p.Leu92Arg) c.77T>G (p.Leu26Arg) n.347T>G n.337T>G | |
2 | g.47408464T= | CA2495830242 | MSH2 | c.275T= (p.Leu92=) c.77T= (p.Leu26=) n.347T= n.337T= | |
2 | g.47408464_47408465del | CA2586969087 | MSH2 | c.275_276del (p.Leu92ProfsTer7) c.77_78del (p.Leu26ProfsTer7) n.347_348del n.337_338del | |
2 | g.47408465del | CA2586969086 | MSH2 | c.276del (p.Leu93PhefsTer?) c.78del (p.Leu27PhefsTer?) n.348del n.338del | |
2 | g.47408465T>A | CA425965669 | MSH2 | c.276T>A (p.Leu92=) c.78T>A (p.Leu26=) n.348T>A n.338T>A | |
2 | g.47408465T>C | CA425965670 | MSH2 | c.276T>C (p.Leu92=) c.78T>C (p.Leu26=) n.348T>C n.338T>C | |
2 | g.47408465T>G | CA16610780 | MSH2 | c.276T>G (p.Leu92=) c.78T>G (p.Leu26=) n.348T>G n.338T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408465T= | CA2495830243 | MSH2 | c.276T= (p.Leu92=) c.78T= (p.Leu26=) n.348T= n.338T= | |
2 | g.47408465_47408466insA | CA2580067422 | MSH2 | c.276_277insA (p.Leu93ThrfsTer7) c.78_79insA (p.Leu27ThrfsTer7) n.348_349insA n.338_339insA | ClinVar |
2 | g.47408466C>A | CA346729583 | MSH2 | c.277C>A (p.Leu93Ile) c.79C>A (p.Leu27Ile) n.349C>A n.339C>A | dbSNP |
2 | g.47408466C= | CA2495830244 | MSH2 | c.277C= (p.Leu93=) c.79C= (p.Leu27=) n.349C= n.339C= | |
2 | g.47408466C>G | CA346729584 | MSH2 | c.277C>G (p.Leu93Val) c.79C>G (p.Leu27Val) n.349C>G n.339C>G | ClinVar dbSNP |
2 | g.47408466C>T | CA020925 | MSH2 | c.277C>T (p.Leu93Phe) c.79C>T (p.Leu27Phe) n.349C>T n.339C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408466_47408468delinsCTT | CA2495830245 | MSH2 | c.277_279delinsCTT (p.Leu93=) c.79_81delinsCTT (p.Leu27=) n.349_351delinsCTT n.339_341delinsCTT | |
2 | g.47408467T>A | CA346729585 | MSH2 | c.278T>A (p.Leu93His) c.80T>A (p.Leu27His) n.350T>A n.340T>A | |
2 | g.47408467T>C | CA46672800 | MSH2 | c.278T>C (p.Leu93Pro) c.80T>C (p.Leu27Pro) n.350T>C n.340T>C | dbSNP |
2 | g.47408467T>G | CA346729586 | MSH2 | c.278T>G (p.Leu93Arg) c.80T>G (p.Leu27Arg) n.350T>G n.340T>G | |
2 | g.47408467T= | CA2495830246 | MSH2 | c.278T= (p.Leu93=) c.80T= (p.Leu27=) n.350T= n.340T= | |
2 | g.47408467_47408468del | CA020927 | MSH2 | c.278_279del (p.Leu93ProfsTer6) c.80_81del (p.Leu27ProfsTer6) n.350_351del n.340_341del | ClinVar dbSNP |
2 | g.47408468T>A | CA425965671 | MSH2 | c.279T>A (p.Leu93=) c.81T>A (p.Leu27=) n.351T>A n.341T>A | |
2 | g.47408468T>C | CA425965672 | MSH2 | c.279T>C (p.Leu93=) c.81T>C (p.Leu27=) n.351T>C n.341T>C | |
2 | g.47408468T>G | CA425965673 | MSH2 | c.279T>G (p.Leu93=) c.81T>G (p.Leu27=) n.351T>G n.341T>G | |
2 | g.47408468_47408469delinsCT | CA46672814 | MSH2 | c.279_280delinsCT (p.Leu93=) c.81_82delinsCT (p.Leu27=) n.351_352delinsCT n.341_342delinsCT | |
2 | g.47408469del | CA2580067425 | MSH2 | c.280del (p.Leu94TrpfsTer?) c.82del (p.Leu28TrpfsTer?) n.352del n.342del | ClinVar |
2 | g.47408469C>A | CA346729587 | MSH2 | c.280C>A (p.Leu94Met) c.82C>A (p.Leu28Met) n.352C>A n.342C>A | dbSNP |
2 | g.47408469C= | CA2495830247 | MSH2 | c.280C= (p.Leu94=) c.82C= (p.Leu28=) n.352C= n.342C= | |
2 | g.47408469C>G | CA346729588 | MSH2 | c.280C>G (p.Leu94Val) c.82C>G (p.Leu28Val) n.352C>G n.342C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47408469C>T | CA425965674 | MSH2 | c.280C>T (p.Leu94=) c.82C>T (p.Leu28=) n.352C>T n.342C>T | ClinVar dbSNP gnomAD v4 |