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_47408454dup | CA2699268416 | MSH2 | c.212-1_265dup c.14-1_67dup n.284-1_337dup n.274-1_327dup | dbSNP |
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.47408431_47408462delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT | CA2495830213 | MSH2 | c.242_273delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT (p.Ser81=) c.44_75delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT (p.Ser15=) n.314_345delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT n.304_335delinsGTAAAATGAATTTTGAATCTTTTGTAAAAGAT | |
2 | g.47408432_47408462delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG | CA020585 | MSH2 | c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Ser82Ter) c.45_75delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Ser16Ter) n.315_345delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG n.305_335delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG | ClinVar dbSNP |
2 | g.47408453dup | CA020793 | MSH2 | c.264dup (p.Val89CysfsTer11) c.66dup (p.Val23CysfsTer11) n.336dup n.326dup | ClinVar dbSNP |
2 | g.47408452_47408453dup | CA1139656934 | MSH2 | c.263_264dup (p.Val89LeufsTer2) c.65_66dup (p.Val23LeufsTer2) n.335_336dup n.325_326dup | ClinVar dbSNP |
2 | g.47408453del | CA2586969085 | MSH2 | c.264del (p.Phe88LeufsTer2) c.66del (p.Phe22LeufsTer2) n.336del n.326del | |
2 | g.47408452_47408453del | CA020823 | MSH2 | c.263_264del (p.Phe88CysfsTer11) c.65_66del (p.Phe22CysfsTer11) n.335_336del n.325_326del | ClinVar dbSNP |
2 | g.47408453T>A | CA346729560 | MSH2 | c.264T>A (p.Phe88Leu) c.66T>A (p.Phe22Leu) n.336T>A n.326T>A | dbSNP |
2 | g.47408453T>C | CA425965664 | MSH2 | c.264T>C (p.Phe88=) c.66T>C (p.Phe22=) n.336T>C n.326T>C | ClinVar dbSNP |
2 | g.47408453T>G | CA346729559 | MSH2 | c.264T>G (p.Phe88Leu) c.66T>G (p.Phe22Leu) n.336T>G n.326T>G | |
2 | g.47408453T= | CA2495830233 | MSH2 | c.264T= (p.Phe88=) c.66T= (p.Phe22=) n.336T= n.326T= | |
2 | g.47408454del | CA2573051268 | MSH2 | c.265del (p.Val89Ter) c.67del (p.Val23Ter) n.337del n.327del | |
2 | g.47408454G>A | CA10577928 | MSH2 | c.265G>A (p.Val89Ile) c.67G>A (p.Val23Ile) n.337G>A n.327G>A | ClinVar dbSNP |
2 | g.47408454G>C | CA020879 | MSH2 | c.265G>C (p.Val89Leu) c.67G>C (p.Val23Leu) n.337G>C n.327G>C | ClinVar dbSNP |
2 | g.47408454G= | CA2495830234 | MSH2 | c.265G= (p.Val89=) c.67G= (p.Val23=) n.337G= n.327G= | |
2 | g.47408454G>T | CA346729561 | MSH2 | c.265G>T (p.Val89Leu) c.67G>T (p.Val23Leu) n.337G>T n.327G>T | dbSNP |
2 | g.47408455del | CA2499215999 | MSH2 | c.266del (p.Val89GlufsTer?) c.68del (p.Val23GlufsTer?) n.338del n.328del | ClinVar dbSNP |
2 | g.47408455T>A | CA346729562 | MSH2 | c.266T>A (p.Val89Glu) c.68T>A (p.Val23Glu) n.338T>A n.328T>A | |
2 | g.47408455T>C | CA10577929 | MSH2 | c.266T>C (p.Val89Ala) c.68T>C (p.Val23Ala) n.338T>C n.328T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408455T>G | CA346729563 | MSH2 | c.266T>G (p.Val89Gly) c.68T>G (p.Val23Gly) n.338T>G n.328T>G | ClinVar dbSNP |
2 | g.47408455T= | CA2495830235 | MSH2 | c.266T= (p.Val89=) c.68T= (p.Val23=) n.338T= n.328T= | |
2 | g.47408456A= | CA2495830236 | MSH2 | c.267A= (p.Val89=) c.69A= (p.Val23=) n.339A= n.329A= | |
2 | g.47408456A>C | CA10577930 | MSH2 | c.267A>C (p.Val89=) c.69A>C (p.Val23=) n.339A>C n.329A>C | ClinVar dbSNP |
2 | g.47408456A>G | CA425965665 | MSH2 | c.267A>G (p.Val89=) c.69A>G (p.Val23=) n.339A>G n.329A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408456A>T | CA425965666 | MSH2 | c.267A>T (p.Val89=) c.69A>T (p.Val23=) n.339A>T n.329A>T | |
2 | g.47408456_47408457insCA | CA2580067416 | MSH2 | c.267_268insCA (p.Lys90GlnfsTer?) c.69_70insCA (p.Lys24GlnfsTer?) n.339_340insCA n.329_330insCA | ClinVar |
2 | g.47408459del | CA2580067417 | MSH2 | c.270del (p.Asp91IlefsTer?) c.72del (p.Asp25IlefsTer?) n.342del n.332del | ClinVar |
2 | g.47408457A>C | CA346729564 | MSH2 | c.268A>C (p.Lys90Gln) c.70A>C (p.Lys24Gln) n.340A>C n.330A>C | |
2 | g.47408457A>G | CA346729565 | MSH2 | c.268A>G (p.Lys90Glu) c.70A>G (p.Lys24Glu) n.340A>G n.330A>G | ClinVar |
2 | g.47408457A>T | CA346729566 | MSH2 | c.268A>T (p.Lys90Ter) c.70A>T (p.Lys24Ter) n.340A>T n.330A>T | |
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.47408458A>C | CA346729567 | MSH2 | c.269A>C (p.Lys90Thr) c.71A>C (p.Lys24Thr) n.341A>C n.331A>C | |
2 | g.47408458A>G | CA346729568 | MSH2 | c.269A>G (p.Lys90Arg) c.71A>G (p.Lys24Arg) n.341A>G n.331A>G | ClinVar dbSNP |
2 | g.47408458A>T | CA346729569 | MSH2 | c.269A>T (p.Lys90Ile) c.71A>T (p.Lys24Ile) n.341A>T n.331A>T | dbSNP |
2 | g.47408459A>C | CA346729571 | MSH2 | c.270A>C (p.Lys90Asn) c.72A>C (p.Lys24Asn) n.342A>C n.332A>C | |
2 | g.47408459A>G | CA425965667 | MSH2 | c.270A>G (p.Lys90=) c.72A>G (p.Lys24=) n.342A>G n.332A>G | gnomAD v4 |
2 | g.47408459A>T | CA346729570 | MSH2 | c.270A>T (p.Lys90Asn) c.72A>T (p.Lys24Asn) n.342A>T n.332A>T | dbSNP |
2 | g.47408460G>A | CA346729572 | MSH2 | c.271G>A (p.Asp91Asn) c.73G>A (p.Asp25Asn) n.343G>A n.333G>A | ClinVar dbSNP |
2 | g.47408460G>C | CA346729573 | MSH2 | c.271G>C (p.Asp91His) c.73G>C (p.Asp25His) n.343G>C n.333G>C | ClinVar dbSNP |
2 | g.47408460G= | CA2495830237 | MSH2 | c.271G= (p.Asp91=) c.73G= (p.Asp25=) n.343G= n.333G= | |
2 | g.47408460G>T | CA346729574 | MSH2 | c.271G>T (p.Asp91Tyr) c.73G>T (p.Asp25Tyr) n.343G>T n.333G>T | ClinVar dbSNP |
2 | g.47408461A= | CA2495830239 | MSH2 | c.272A= (p.Asp91=) c.74A= (p.Asp25=) n.344A= n.334A= | |
2 | g.47408461A>C | CA346729575 | MSH2 | c.272A>C (p.Asp91Ala) c.74A>C (p.Asp25Ala) n.344A>C n.334A>C | ClinVar dbSNP |
2 | g.47408461A>G | CA346729576 | MSH2 | c.272A>G (p.Asp91Gly) c.74A>G (p.Asp25Gly) n.344A>G n.334A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408461A>T | CA10577931 | MSH2 | c.272A>T (p.Asp91Val) c.74A>T (p.Asp25Val) n.344A>T n.334A>T | ClinVar dbSNP gnomAD v4 |
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.47408462T>A | CA346729577 | MSH2 | c.273T>A (p.Asp91Glu) c.75T>A (p.Asp25Glu) n.345T>A n.335T>A | ClinVar dbSNP |
2 | g.47408462T>C | CA425965668 | MSH2 | c.273T>C (p.Asp91=) c.75T>C (p.Asp25=) n.345T>C n.335T>C | |
2 | g.47408462T>G | CA346729578 | MSH2 | c.273T>G (p.Asp91Glu) c.75T>G (p.Asp25Glu) n.345T>G n.335T>G | dbSNP |
2 | g.47408462T= | CA2495830240 | MSH2 | c.273T= (p.Asp91=) c.75T= (p.Asp25=) n.345T= n.335T= | |
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 |
2 | g.47408469_47408470insG | CA2695200767 | MSH2 | c.280_281insG (p.Leu94ArgfsTer6) c.82_83insG (p.Leu28ArgfsTer6) n.352_353insG n.342_343insG | ClinVar |
2 | g.47408470T>A | CA346729589 | MSH2 | c.281T>A (p.Leu94Gln) c.83T>A (p.Leu28Gln) n.353T>A n.343T>A | |
2 | g.47408470T>C | CA346729590 | MSH2 | c.281T>C (p.Leu94Pro) c.83T>C (p.Leu28Pro) n.353T>C n.343T>C | ClinVar |
2 | g.47408470T>G | CA346729591 | MSH2 | c.281T>G (p.Leu94Arg) c.83T>G (p.Leu28Arg) n.353T>G n.343T>G | ClinVar |
2 | g.47408470_47408471insTTT | CA2586969088 | MSH2 | c.281_282insTTT (p.Leu94_Val95insLeu) c.83_84insTTT (p.Leu28_Val29insLeu) n.353_354insTTT n.343_344insTTT | |
2 | g.47408471G>A | CA037693 | MSH2 | c.282G>A (p.Leu94=) c.84G>A (p.Leu28=) n.354G>A n.344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408471G>C | CA425965676 | MSH2 | c.282G>C (p.Leu94=) c.84G>C (p.Leu28=) n.354G>C n.344G>C | ClinVar dbSNP |
2 | g.47408471G= | CA2495830248 | MSH2 | c.282G= (p.Leu94=) c.84G= (p.Leu28=) n.354G= n.344G= | |
2 | g.47408471G>T | CA425965675 | MSH2 | c.282G>T (p.Leu94=) c.84G>T (p.Leu28=) n.354G>T n.344G>T | dbSNP |
2 | g.47408472dup | CA2695200768 | MSH2 | c.283dup (p.Val95GlyfsTer5) c.85dup (p.Val29GlyfsTer5) n.355dup n.345dup | ClinVar |
2 | g.47408472G>A | CA346729594 | MSH2 | c.283G>A (p.Val95Ile) c.85G>A (p.Val29Ile) n.355G>A n.345G>A | ClinVar dbSNP |
2 | g.47408472G>C | CA346729592 | MSH2 | c.283G>C (p.Val95Leu) c.85G>C (p.Val29Leu) n.355G>C n.345G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408472G= | CA2495830249 | MSH2 | c.283G= (p.Val95=) c.85G= (p.Val29=) n.355G= n.345G= | |
2 | g.47408472G>T | CA346729593 | MSH2 | c.283G>T (p.Val95Phe) c.85G>T (p.Val29Phe) n.355G>T n.345G>T | dbSNP gnomAD v4 |
2 | g.47408473T>A | CA346729595 | MSH2 | c.284T>A (p.Val95Asp) c.86T>A (p.Val29Asp) n.356T>A n.346T>A | dbSNP |
2 | g.47408473T>C | CA346729596 | MSH2 | c.284T>C (p.Val95Ala) c.86T>C (p.Val29Ala) n.356T>C n.346T>C | ClinVar dbSNP |
2 | g.47408473T>G | CA346729597 | MSH2 | c.284T>G (p.Val95Gly) c.86T>G (p.Val29Gly) n.356T>G n.346T>G | |
2 | g.47408474dup | CA2580067429 | MSH2 | c.285dup (p.Arg96SerfsTer4) c.87dup (p.Arg30SerfsTer4) n.357dup n.347dup | ClinVar |
2 | g.47408474_47408489del | CA2580067428 | MSH2 | c.285_300del (p.Arg96LysfsTer?) c.87_102del (p.Arg30LysfsTer?) n.357_372del n.347_362del | ClinVar |
2 | g.47408474T>A | CA425965677 | MSH2 | c.285T>A (p.Val95=) c.87T>A (p.Val29=) n.357T>A n.347T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408474T>C | CA425965678 | MSH2 | c.285T>C (p.Val95=) c.87T>C (p.Val29=) n.357T>C n.347T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408474T>G | CA425965679 | MSH2 | c.285T>G (p.Val95=) c.87T>G (p.Val29=) n.357T>G n.347T>G | |
2 | g.47408474T= | CA2495830250 | MSH2 | c.285T= (p.Val95=) c.87T= (p.Val29=) n.357T= n.347T= | |
2 | g.47408475C>A | CA346729598 | MSH2 | c.286C>A (p.Arg96Ser) c.88C>A (p.Arg30Ser) n.358C>A n.348C>A | dbSNP |
2 | g.47408475C= | CA2495830251 | MSH2 | c.286C= (p.Arg96=) c.88C= (p.Arg30=) n.358C= n.348C= | |
2 | g.47408475C>G | CA346729599 | MSH2 | c.286C>G (p.Arg96Gly) c.88C>G (p.Arg30Gly) n.358C>G n.348C>G | dbSNP |
2 | g.47408475C>T | CA346729600 | MSH2 | c.286C>T (p.Arg96Cys) c.88C>T (p.Arg30Cys) n.358C>T n.348C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47408476G>A | CA020967 | MSH2 | c.287G>A (p.Arg96His) c.89G>A (p.Arg30His) n.359G>A n.349G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408476G>C | CA346729601 | MSH2 | c.287G>C (p.Arg96Pro) c.89G>C (p.Arg30Pro) n.359G>C n.349G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47408476G= | CA2495830252 | MSH2 | c.287G= (p.Arg96=) c.89G= (p.Arg30=) n.359G= n.349G= | |
2 | g.47408476G>T | CA346729602 | MSH2 | c.287G>T (p.Arg96Leu) c.89G>T (p.Arg30Leu) n.359G>T n.349G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408476_47408477delinsA | CA2586969089 | MSH2 | c.287_288delinsA (p.Arg96HisfsTer?) c.89_90delinsA (p.Arg30HisfsTer?) n.359_360delinsA n.349_350delinsA | |
2 | g.47408477T>A | CA425965680 | MSH2 | c.288T>A (p.Arg96=) c.90T>A (p.Arg30=) n.360T>A n.350T>A | ClinVar dbSNP |
2 | g.47408477T>C | CA425965681 | MSH2 | c.288T>C (p.Arg96=) c.90T>C (p.Arg30=) n.360T>C n.350T>C | ClinVar dbSNP |
2 | g.47408477T>G | CA425965682 | MSH2 | c.288T>G (p.Arg96=) c.90T>G (p.Arg30=) n.360T>G n.350T>G | |
2 | g.47408477_47408478delinsTC | CA2495830253 | MSH2 | c.288_289delinsTC (p.Arg96=) c.90_91delinsTC (p.Arg30=) n.360_361delinsTC n.350_351delinsTC | |
2 | g.47408478del | CA645369210 | MSH2 | c.289del (p.Gln97SerfsTer?) c.91del (p.Gln31SerfsTer?) n.361del n.351del | ClinVar dbSNP |
2 | g.47408478C>A | CA346729603 | MSH2 | c.289C>A (p.Gln97Lys) c.91C>A (p.Gln31Lys) n.361C>A n.351C>A | ClinVar dbSNP |
2 | g.47408478C= | CA2495830254 | MSH2 | c.289C= (p.Gln97=) c.91C= (p.Gln31=) n.361C= n.351C= | |
2 | g.47408478C>G | CA346729604 | MSH2 | c.289C>G (p.Gln97Glu) c.91C>G (p.Gln31Glu) n.361C>G n.351C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408478C>T | CA020970 | MSH2 | c.289C>T (p.Gln97Ter) c.91C>T (p.Gln31Ter) n.361C>T n.351C>T | ClinVar dbSNP |
2 | g.47408479A= | CA2495830255 | MSH2 | c.290A= (p.Gln97=) c.92A= (p.Gln31=) n.362A= n.352A= | |
2 | g.47408479A>C | CA346729605 | MSH2 | c.290A>C (p.Gln97Pro) c.92A>C (p.Gln31Pro) n.362A>C n.352A>C | ClinVar dbSNP |
2 | g.47408479A>G | CA346729607 | MSH2 | c.290A>G (p.Gln97Arg) c.92A>G (p.Gln31Arg) n.362A>G n.352A>G | ClinVar dbSNP |
2 | g.47408479A>T | CA346729606 | MSH2 | c.290A>T (p.Gln97Leu) c.92A>T (p.Gln31Leu) n.362A>T n.352A>T | |
2 | g.47408479_47408480insAGATCTTCTTCTGGTTCGTCAA | CA913090555 | MSH2 | c.290_291insAGATCTTCTTCTGGTTCGTCAA (p.Tyr98AspfsTer9) c.92_93insAGATCTTCTTCTGGTTCGTCAA (p.Tyr32AspfsTer9) n.362_363insAGATCTTCTTCTGGTTCGTCAA n.352_353insAGATCTTCTTCTGGTTCGTCAA | |
2 | g.47408479_47408480insAAAGATCTTCTTCTGGTTCGTC | CA46672823 | MSH2 | c.290_291insAAAGATCTTCTTCTGGTTCGTC (p.Tyr98LysfsTer9) c.92_93insAAAGATCTTCTTCTGGTTCGTC (p.Tyr32LysfsTer9) n.362_363insAAAGATCTTCTTCTGGTTCGTC n.352_353insAAAGATCTTCTTCTGGTTCGTC | |
2 | g.47408480G>A | CA425965683 | MSH2 | c.291G>A (p.Gln97=) c.93G>A (p.Gln31=) n.363G>A n.353G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408480G>C | CA346729608 | MSH2 | c.291G>C (p.Gln97His) c.93G>C (p.Gln31His) n.363G>C n.353G>C | dbSNP gnomAD v4 |
2 | g.47408480G= | CA2495830257 | MSH2 | c.291G= (p.Gln97=) c.93G= (p.Gln31=) n.363G= n.353G= | |
2 | g.47408480G>T | CA16617555 | MSH2 | c.291G>T (p.Gln97His) c.93G>T (p.Gln31His) n.363G>T n.353G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408480_47408482delinsGTA | CA2495830256 | MSH2 | c.291_293delinsGTA (p.Gln97=) c.93_95delinsGTA (p.Gln31=) n.363_365delinsGTA n.353_355delinsGTA | |
2 | g.47408481T>A | CA346729609 | MSH2 | c.292T>A (p.Tyr98Asn) c.94T>A (p.Tyr32Asn) n.364T>A n.354T>A | |
2 | g.47408481T>C | CA346729610 | MSH2 | c.292T>C (p.Tyr98His) c.94T>C (p.Tyr32His) n.364T>C n.354T>C | |
2 | g.47408481T>G | CA346729611 | MSH2 | c.292T>G (p.Tyr98Asp) c.94T>G (p.Tyr32Asp) n.364T>G n.354T>G | ClinVar |
2 | g.47408483_47408484del | CA658795725 | MSH2 | c.294_295del (p.Tyr98Ter) c.96_97del (p.Tyr32Ter) n.366_367del n.356_357del | ClinVar dbSNP |
2 | g.47408482A= | CA2495830258 | MSH2 | c.293A= (p.Tyr98=) c.95A= (p.Tyr32=) n.365A= n.355A= | |
2 | g.47408482A>C | CA346729613 | MSH2 | c.293A>C (p.Tyr98Ser) c.95A>C (p.Tyr32Ser) n.365A>C n.355A>C | |
2 | g.47408482A>G | CA020980 | MSH2 | c.293A>G (p.Tyr98Cys) c.95A>G (p.Tyr32Cys) n.365A>G n.355A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408482A>T | CA346729612 | MSH2 | c.293A>T (p.Tyr98Phe) c.95A>T (p.Tyr32Phe) n.365A>T n.355A>T | ClinVar dbSNP |
2 | g.47408483T>A | CA10584204 | MSH2 | c.294T>A (p.Tyr98Ter) c.96T>A (p.Tyr32Ter) n.366T>A n.356T>A | ClinVar dbSNP |
2 | g.47408483T>C | CA037726 | MSH2 | c.294T>C (p.Tyr98=) c.96T>C (p.Tyr32=) n.366T>C n.356T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408483T>G | CA346729614 | MSH2 | c.294T>G (p.Tyr98Ter) c.96T>G (p.Tyr32Ter) n.366T>G n.356T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408483T= | CA2495830259 | MSH2 | c.294T= (p.Tyr98=) c.96T= (p.Tyr32=) n.366T= n.356T= | |
2 | g.47408485_47408497del | CA2580067434 | MSH2 | c.296_308del (p.Arg99IlefsTer?) c.98_110del (p.Arg33IlefsTer?) n.368_380del n.358_370del | ClinVar |
2 | g.47408484A= | CA2495830261 | MSH2 | c.295A= (p.Arg99=) c.97A= (p.Arg33=) n.367A= n.357A= | |
2 | g.47408484A>C | CA020984 | MSH2 | c.295A>C (p.Arg99=) c.97A>C (p.Arg33=) n.367A>C n.357A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408484A>G | CA346729615 | MSH2 | c.295A>G (p.Arg99Gly) c.97A>G (p.Arg33Gly) n.367A>G n.357A>G | ClinVar dbSNP |
2 | g.47408484A>T | CA346729616 | MSH2 | c.295A>T (p.Arg99Ter) c.97A>T (p.Arg33Ter) n.367A>T n.357A>T | ClinVar dbSNP |
2 | g.47408484_47408485delinsC | CA2586969090 | MSH2 | c.295_296delinsC (p.Arg99GlnfsTer?) c.97_98delinsC (p.Arg33GlnfsTer?) n.367_368delinsC n.357_358delinsC | |
2 | g.47408484_47408485delinsAG | CA2495830260 | MSH2 | c.295_296delinsAG (p.Arg99=) c.97_98delinsAG (p.Arg33=) n.367_368delinsAG n.357_358delinsAG | |
2 | g.47408485del | CA46672844 | MSH2 | c.296del (p.Arg99LysfsTer?) c.98del (p.Arg33LysfsTer?) n.368del n.358del | dbSNP |
2 | g.47408485G>A | CA346729619 | MSH2 | c.296G>A (p.Arg99Lys) c.98G>A (p.Arg33Lys) n.368G>A n.358G>A | ClinVar dbSNP |
2 | g.47408485G>C | CA346729618 | MSH2 | c.296G>C (p.Arg99Thr) c.98G>C (p.Arg33Thr) n.368G>C n.358G>C | dbSNP |
2 | g.47408485G= | CA2495830262 | MSH2 | c.296G= (p.Arg99=) c.98G= (p.Arg33=) n.368G= n.358G= | |
2 | g.47408485G>T | CA346729617 | MSH2 | c.296G>T (p.Arg99Ile) c.98G>T (p.Arg33Ile) n.368G>T n.358G>T | ClinVar |
2 | g.47408485_47408491delinsGAGTTGA | CA2495830263 | MSH2 | c.296_302delinsGAGTTGA (p.Arg99=) c.98_104delinsGAGTTGA (p.Arg33=) n.368_374delinsGAGTTGA n.358_364delinsGAGTTGA | |
2 | g.47408486A= | CA2495830264 | MSH2 | c.297A= (p.Arg99=) c.99A= (p.Arg33=) n.369A= n.359A= | |
2 | g.47408486A>C | CA346729620 | MSH2 | c.297A>C (p.Arg99Ser) c.99A>C (p.Arg33Ser) n.369A>C n.359A>C | ClinVar dbSNP |
2 | g.47408486A>G | CA425965684 | MSH2 | c.297A>G (p.Arg99=) c.99A>G (p.Arg33=) n.369A>G n.359A>G | ClinVar dbSNP |
2 | g.47408486A>T | CA020986 | MSH2 | c.297A>T (p.Arg99Ser) c.99A>T (p.Arg33Ser) n.369A>T n.359A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.47408486_47408487delinsAG | CA2495830265 | MSH2 | c.297_298delinsAG (p.Arg99=) c.99_100delinsAG (p.Arg33=) n.369_370delinsAG n.359_360delinsAG | |
2 | g.47408490_47408495del | CA020989 | MSH2 | c.301_306del (p.Glu101_Val102del) c.103_108del (p.Glu35_Val36del) n.373_378del n.363_368del | ClinVar dbSNP |
2 | g.47408487del | CA1139656936 | MSH2 | c.298del (p.Val100LeufsTer?) c.100del (p.Val34LeufsTer?) n.370del n.360del | ClinVar dbSNP |
2 | g.47408487G>A | CA346729621 | MSH2 | c.298G>A (p.Val100Ile) c.100G>A (p.Val34Ile) n.370G>A n.360G>A | ClinVar dbSNP |
2 | g.47408487G>C | CA346729622 | MSH2 | c.298G>C (p.Val100Leu) c.100G>C (p.Val34Leu) n.370G>C n.360G>C | ClinVar dbSNP |
2 | g.47408487G= | CA2495830266 | MSH2 | c.298G= (p.Val100=) c.100G= (p.Val34=) n.370G= n.360G= | |
2 | g.47408487G>T | CA346729623 | MSH2 | c.298G>T (p.Val100Phe) c.100G>T (p.Val34Phe) n.370G>T n.360G>T | ClinVar dbSNP |
2 | g.47408488T>A | CA346729624 | MSH2 | c.299T>A (p.Val100Asp) c.101T>A (p.Val34Asp) n.371T>A n.361T>A | dbSNP |
2 | g.47408488T>C | CA346729626 | MSH2 | c.299T>C (p.Val100Ala) c.101T>C (p.Val34Ala) n.371T>C n.361T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47408488T>G | CA346729625 | MSH2 | c.299T>G (p.Val100Gly) c.101T>G (p.Val34Gly) n.371T>G n.361T>G | |
2 | g.47408489T>A | CA425965685 | MSH2 | c.300T>A (p.Val100=) c.102T>A (p.Val34=) n.372T>A n.362T>A | |
2 | g.47408489T>C | CA425965686 | MSH2 | c.300T>C (p.Val100=) c.102T>C (p.Val34=) n.372T>C n.362T>C | |
2 | g.47408489T>G | CA425965687 | MSH2 | c.300T>G (p.Val100=) c.102T>G (p.Val34=) n.372T>G n.362T>G | |
2 | g.47408490del | CA2580067437 | MSH2 | c.301del (p.Glu101LysfsTer?) c.103del (p.Glu35LysfsTer?) n.373del n.363del | ClinVar |
2 | g.47408490G>A | CA346729627 | MSH2 | c.301G>A (p.Glu101Lys) c.103G>A (p.Glu35Lys) n.373G>A n.363G>A | ClinVar dbSNP |
2 | g.47408490G>C | CA346729628 | MSH2 | c.301G>C (p.Glu101Gln) c.103G>C (p.Glu35Gln) n.373G>C n.363G>C | ClinVar dbSNP |
2 | g.47408490G= | CA2495830267 | MSH2 | c.301G= (p.Glu101=) c.103G= (p.Glu35=) n.373G= n.363G= | |
2 | g.47408490G>T | CA020992 | MSH2 | c.301G>T (p.Glu101Ter) c.103G>T (p.Glu35Ter) n.373G>T n.363G>T | ClinVar dbSNP |
2 | g.47408490_47408495delinsAGTTGA | CA46672854 | MSH2 | c.301_306delinsAGTTGA (p.Glu101SerfsTer2) c.103_108delinsAGTTGA (p.Glu35SerfsTer2) n.373_378delinsAGTTGA n.363_368delinsAGTTGA | |
2 | g.47408493_47408503del | CA2658945893 | MSH2 | c.304_314del (p.Val102Ter) c.106_116del (p.Val36Ter) n.376_386del n.366_376del | gnomAD v4 |
2 | g.47408491A= | CA2495830268 | MSH2 | c.302A= (p.Glu101=) c.104A= (p.Glu35=) n.374A= n.364A= | |
2 | g.47408491A>C | CA346729629 | MSH2 | c.302A>C (p.Glu101Ala) c.104A>C (p.Glu35Ala) n.374A>C n.364A>C | |
2 | g.47408491A>G | CA346729631 | MSH2 | c.302A>G (p.Glu101Gly) c.104A>G (p.Glu35Gly) n.374A>G n.364A>G | ClinVar dbSNP |
2 | g.47408491A>T | CA346729630 | MSH2 | c.302A>T (p.Glu101Val) c.104A>T (p.Glu35Val) n.374A>T n.364A>T | |
2 | g.47408491_47408492insGATATTACATGTTCA | CA532342825 | MSH2 | c.302_303insGATATTACATGTTCA (p.Glu101_Val102insIleLeuHisValGln) c.104_105insGATATTACATGTTCA (p.Glu35_Val36insIleLeuHisValGln) n.374_375insGATATTACATGTTCA n.364_365insGATATTACATGTTCA | dbSNP gnomAD v2 |
2 | g.47408491_47408492insG | CA532342826 | MSH2 | c.302_303insG (p.Val102SerfsTer3) c.104_105insG (p.Val36SerfsTer3) n.374_375insG n.364_365insG | gnomAD v2 |
2 | g.47408491_47408492insGATATTAC | CA532342827 | MSH2 | c.302_303insGATATTAC (p.Val102IlefsTer?) c.104_105insGATATTAC (p.Val36IlefsTer?) n.374_375insGATATTAC n.364_365insGATATTAC | gnomAD v2 |
2 | g.47408492A= | CA2495830269 | MSH2 | c.303A= (p.Glu101=) c.105A= (p.Glu35=) n.375A= n.365A= | |
2 | g.47408492A>C | CA346729632 | MSH2 | c.303A>C (p.Glu101Asp) c.105A>C (p.Glu35Asp) n.375A>C n.365A>C | ClinVar |
2 | g.47408492A>G | CA425965688 | MSH2 | c.303A>G (p.Glu101=) c.105A>G (p.Glu35=) n.375A>G n.365A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408492A>T | CA346729633 | MSH2 | c.303A>T (p.Glu101Asp) c.105A>T (p.Glu35Asp) n.375A>T n.365A>T | |
2 | g.47408492_47408493insTATTACAT | CA532342828 | MSH2 | c.303_304insTATTACAT (p.Val102TyrfsTer?) c.105_106insTATTACAT (p.Val36TyrfsTer?) n.375_376insTATTACAT n.365_366insTATTACAT | dbSNP gnomAD v2 |
2 | g.47408493G>A | CA020996 | MSH2 | c.304G>A (p.Val102Ile) c.106G>A (p.Val36Ile) n.376G>A n.366G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408493G>C | CA346729634 | MSH2 | c.304G>C (p.Val102Leu) c.106G>C (p.Val36Leu) n.376G>C n.366G>C | |
2 | g.47408493G= | CA2495830270 | MSH2 | c.304G= (p.Val102=) c.106G= (p.Val36=) n.376G= n.366G= | |
2 | g.47408493G>T | CA346729635 | MSH2 | c.304G>T (p.Val102Phe) c.106G>T (p.Val36Phe) n.376G>T n.366G>T | |
2 | g.47408494T>A | CA346729636 | MSH2 | c.305T>A (p.Val102Asp) c.107T>A (p.Val36Asp) n.377T>A n.367T>A | dbSNP |
2 | g.47408494T>C | CA346729637 | MSH2 | c.305T>C (p.Val102Ala) c.107T>C (p.Val36Ala) n.377T>C n.367T>C | gnomAD v4 |
2 | g.47408494T>G | CA346729638 | MSH2 | c.305T>G (p.Val102Gly) c.107T>G (p.Val36Gly) n.377T>G n.367T>G | |
2 | g.47408496del | CA2580067439 | MSH2 | c.307del (p.Tyr103IlefsTer?) c.109del (p.Tyr37IlefsTer?) n.379del n.369del | ClinVar |
2 | g.47408495T>A | CA425965689 | MSH2 | c.306T>A (p.Val102=) c.108T>A (p.Val36=) n.378T>A n.368T>A | |
2 | g.47408495T>C | CA425965690 | MSH2 | c.306T>C (p.Val102=) c.108T>C (p.Val36=) n.378T>C n.368T>C | |
2 | g.47408495T>G | CA425965691 | MSH2 | c.306T>G (p.Val102=) c.108T>G (p.Val36=) n.378T>G n.368T>G | |
2 | g.47408496T>A | CA346729639 | MSH2 | c.307T>A (p.Tyr103Asn) c.109T>A (p.Tyr37Asn) n.379T>A n.369T>A | dbSNP |
2 | g.47408496T>C | CA020998 | MSH2 | c.307T>C (p.Tyr103His) c.109T>C (p.Tyr37His) n.379T>C n.369T>C | ClinVar dbSNP gnomAD v2 |
2 | g.47408496T>G | CA346729640 | MSH2 | c.307T>G (p.Tyr103Asp) c.109T>G (p.Tyr37Asp) n.379T>G n.369T>G | ClinVar |
2 | g.47408496T= | CA2495830271 | MSH2 | c.307T= (p.Tyr103=) c.109T= (p.Tyr37=) n.379T= n.369T= | |
2 | g.47408497del | CA2580067441 | MSH2 | c.308del (p.Tyr103LeufsTer?) c.110del (p.Tyr37LeufsTer?) n.380del n.370del | ClinVar |
2 | g.47408497A= | CA2495830272 | MSH2 | c.308A= (p.Tyr103=) c.110A= (p.Tyr37=) n.380A= n.370A= | |
2 | g.47408497A>C | CA346729641 | MSH2 | c.308A>C (p.Tyr103Ser) c.110A>C (p.Tyr37Ser) n.380A>C n.370A>C | ClinVar dbSNP |
2 | g.47408497A>G | CA021001 | MSH2 | c.308A>G (p.Tyr103Cys) c.110A>G (p.Tyr37Cys) n.380A>G n.370A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408497A>T | CA346729642 | MSH2 | c.308A>T (p.Tyr103Phe) c.110A>T (p.Tyr37Phe) n.380A>T n.370A>T | ClinVar dbSNP |
2 | g.47408497_47408498delinsAT | CA2495830273 | MSH2 | c.308_309delinsAT (p.Tyr103=) c.110_111delinsAT (p.Tyr37=) n.380_381delinsAT n.370_371delinsAT | |
2 | g.47408498del | CA645369212 | MSH2 | c.309del (p.Tyr103Ter) c.111del (p.Tyr37Ter) n.381del n.371del | ClinVar dbSNP |
2 | g.47408498T>A | CA346729643 | MSH2 | c.309T>A (p.Tyr103Ter) c.111T>A (p.Tyr37Ter) n.381T>A n.371T>A | ClinVar |
2 | g.47408498T>C | CA425965692 | MSH2 | c.309T>C (p.Tyr103=) c.111T>C (p.Tyr37=) n.381T>C n.371T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408498T>G | CA346729644 | MSH2 | c.309T>G (p.Tyr103Ter) c.111T>G (p.Tyr37Ter) n.381T>G n.371T>G | |
2 | g.47408498T= | CA2495830274 | MSH2 | c.309T= (p.Tyr103=) c.111T= (p.Tyr37=) n.381T= n.371T= | |
2 | g.47408499A= | CA2495830275 | MSH2 | c.310A= (p.Lys104=) c.112A= (p.Lys38=) n.382A= n.372A= | |
2 | g.47408499A>C | CA346729645 | MSH2 | c.310A>C (p.Lys104Gln) c.112A>C (p.Lys38Gln) n.382A>C n.372A>C | |
2 | g.47408499A>G | CA346729647 | MSH2 | c.310A>G (p.Lys104Glu) c.112A>G (p.Lys38Glu) n.382A>G n.372A>G | ClinVar gnomAD v4 |
2 | g.47408499A>T | CA346729649 | MSH2 | c.310A>T (p.Lys104Ter) c.112A>T (p.Lys38Ter) n.382A>T n.372A>T | dbSNP |
2 | g.47408501_47408503del | CA2580067446 | MSH2 | c.312_314del (p.Lys104del) c.114_116del (p.Lys38del) n.384_386del n.374_376del | ClinVar |
2 | g.47408500A= | CA2495830276 | MSH2 | c.311A= (p.Lys104=) c.113A= (p.Lys38=) n.383A= n.373A= | |
2 | g.47408500A>C | CA346729650 | MSH2 | c.311A>C (p.Lys104Thr) c.113A>C (p.Lys38Thr) n.383A>C n.373A>C | ClinVar dbSNP |
2 | g.47408500A>G | CA346729651 | MSH2 | c.311A>G (p.Lys104Arg) c.113A>G (p.Lys38Arg) n.383A>G n.373A>G | ClinVar |
2 | g.47408500A>T | CA346729652 | MSH2 | c.311A>T (p.Lys104Met) c.113A>T (p.Lys38Met) n.383A>T n.373A>T | dbSNP |
2 | g.47408501G>A | CA425965694 | MSH2 | c.312G>A (p.Lys104=) c.114G>A (p.Lys38=) n.384G>A n.374G>A | ClinVar dbSNP |
2 | g.47408501G>C | CA037821 | MSH2 | c.312G>C (p.Lys104Asn) c.114G>C (p.Lys38Asn) n.384G>C n.374G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408501G= | CA2495830277 | MSH2 | c.312G= (p.Lys104=) c.114G= (p.Lys38=) n.384G= n.374G= | |
2 | g.47408501G>T | CA346729656 | MSH2 | c.312G>T (p.Lys104Asn) c.114G>T (p.Lys38Asn) n.384G>T n.374G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408502A>C | CA346729660 | MSH2 | c.313A>C (p.Asn105His) c.115A>C (p.Asn39His) n.385A>C n.375A>C | |
2 | g.47408502A>G | CA346729667 | MSH2 | c.313A>G (p.Asn105Asp) c.115A>G (p.Asn39Asp) n.385A>G n.375A>G | ClinVar dbSNP |
2 | g.47408502A>T | CA346729669 | MSH2 | c.313A>T (p.Asn105Tyr) c.115A>T (p.Asn39Tyr) n.385A>T n.375A>T | |
2 | g.47408503A= | CA2495830278 | MSH2 | c.314A= (p.Asn105=) c.116A= (p.Asn39=) n.386A= n.376A= | |
2 | g.47408503A>C | CA346729671 | MSH2 | c.314A>C (p.Asn105Thr) c.116A>C (p.Asn39Thr) n.386A>C n.376A>C | |
2 | g.47408503A>G | CA346729673 | MSH2 | c.314A>G (p.Asn105Ser) c.116A>G (p.Asn39Ser) n.386A>G n.376A>G | ClinVar dbSNP |
2 | g.47408503A>T | CA346729672 | MSH2 | c.314A>T (p.Asn105Ile) c.116A>T (p.Asn39Ile) n.386A>T n.376A>T | |
2 | g.47408504T>A | CA346729675 | MSH2 | c.315T>A (p.Asn105Lys) c.117T>A (p.Asn39Lys) n.387T>A n.377T>A | dbSNP |
2 | g.47408504T>C | CA037836 | MSH2 | c.315T>C (p.Asn105=) c.117T>C (p.Asn39=) n.387T>C n.377T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408504T>G | CA346729677 | MSH2 | c.315T>G (p.Asn105Lys) c.117T>G (p.Asn39Lys) n.387T>G n.377T>G | dbSNP |
2 | g.47408504T= | CA2495830279 | MSH2 | c.315T= (p.Asn105=) c.117T= (p.Asn39=) n.387T= n.377T= | |
2 | g.47408505A= | CA2495830280 | MSH2 | c.316A= (p.Arg106=) c.118A= (p.Arg40=) n.388A= n.378A= | |
2 | g.47408505A>C | CA425965695 | MSH2 | c.316A>C (p.Arg106=) c.118A>C (p.Arg40=) n.388A>C n.378A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47408505A>G | CA346729681 | MSH2 | c.316A>G (p.Arg106Gly) c.118A>G (p.Arg40Gly) n.388A>G n.378A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408505A>T | CA346729683 | MSH2 | c.316A>T (p.Arg106Ter) c.118A>T (p.Arg40Ter) n.388A>T n.378A>T | |
2 | g.47408506G>A | CA021007 | MSH2 | c.317G>A (p.Arg106Lys) c.119G>A (p.Arg40Lys) n.389G>A n.379G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408506G>C | CA346729684 | MSH2 | c.317G>C (p.Arg106Thr) c.119G>C (p.Arg40Thr) n.389G>C n.379G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47408506G= | CA2495830281 | MSH2 | c.317G= (p.Arg106=) c.119G= (p.Arg40=) n.389G= n.379G= | |
2 | g.47408506G>T | CA346729685 | MSH2 | c.317G>T (p.Arg106Ile) c.119G>T (p.Arg40Ile) n.389G>T n.379G>T | |
2 | g.47408507A>C | CA346729687 | MSH2 | c.318A>C (p.Arg106Ser) c.120A>C (p.Arg40Ser) n.390A>C n.380A>C | |
2 | g.47408507A>G | CA425965696 | MSH2 | c.318A>G (p.Arg106=) c.120A>G (p.Arg40=) n.390A>G n.380A>G | ClinVar dbSNP |
2 | g.47408507A>T | CA346729689 | MSH2 | c.318A>T (p.Arg106Ser) c.120A>T (p.Arg40Ser) n.390A>T n.380A>T | dbSNP |
2 | g.47408507_47408508insAATAAGGCAT | CA2499216000 | MSH2 | c.318_319insAATAAGGCAT (p.Ala107AsnfsTer7) c.120_121insAATAAGGCAT (p.Ala41AsnfsTer7) n.390_391insAATAAGGCAT n.380_381insAATAAGGCAT | dbSNP |
2 | g.47408508G>A | CA346729691 | MSH2 | c.319G>A (p.Ala107Thr) c.121G>A (p.Ala41Thr) n.391G>A n.381G>A | ClinVar dbSNP |
2 | g.47408508G>C | CA021012 | MSH2 | c.319G>C (p.Ala107Pro) c.121G>C (p.Ala41Pro) n.391G>C n.381G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408508G= | CA2495830282 | MSH2 | c.319G= (p.Ala107=) c.121G= (p.Ala41=) n.391G= n.381G= | |
2 | g.47408508G>T | CA346729695 | MSH2 | c.319G>T (p.Ala107Ser) c.121G>T (p.Ala41Ser) n.391G>T n.381G>T | |
2 | g.47408508delinsAATAAGGCATC | CA2580067451 | MSH2 | c.319delinsAATAAGGCATC (p.Ala107AsnfsTer7) c.121delinsAATAAGGCATC (p.Ala41AsnfsTer7) n.391delinsAATAAGGCATC n.381delinsAATAAGGCATC | ClinVar |
2 | g.47408509C>A | CA346729697 | MSH2 | c.320C>A (p.Ala107Asp) c.122C>A (p.Ala41Asp) n.392C>A n.382C>A | ClinVar dbSNP |
2 | g.47408509C= | CA2495830284 | MSH2 | c.320C= (p.Ala107=) c.122C= (p.Ala41=) n.392C= n.382C= | |
2 | g.47408509C>G | CA10577932 | MSH2 | c.320C>G (p.Ala107Gly) c.122C>G (p.Ala41Gly) n.392C>G n.382C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408509C>T | CA346729699 | MSH2 | c.320C>T (p.Ala107Val) c.122C>T (p.Ala41Val) n.392C>T n.382C>T | ClinVar dbSNP |
2 | g.47408509_47408510delinsCT | CA2495830283 | MSH2 | c.320_321delinsCT (p.Ala107=) c.122_123delinsCT (p.Ala41=) n.392_393delinsCT n.382_383delinsCT | |
2 | g.47408510del | CA915943880 | MSH2 | c.321del (p.Gly108GlufsTer?) c.123del (p.Gly42GlufsTer?) n.393del n.383del | ClinVar dbSNP |
2 | g.47408510T>A | CA425965697 | MSH2 | c.321T>A (p.Ala107=) c.123T>A (p.Ala41=) n.393T>A n.383T>A | |
2 | g.47408510T>C | CA425965698 | MSH2 | c.321T>C (p.Ala107=) c.123T>C (p.Ala41=) n.393T>C n.383T>C | |
2 | g.47408510T>G | CA425965699 | MSH2 | c.321T>G (p.Ala107=) c.123T>G (p.Ala41=) n.393T>G n.383T>G | |
2 | g.47408511G>A | CA346729701 | MSH2 | c.322G>A (p.Gly108Arg) c.124G>A (p.Gly42Arg) n.394G>A n.384G>A | ClinVar dbSNP |
2 | g.47408511G>C | CA346729709 | MSH2 | c.322G>C (p.Gly108Arg) c.124G>C (p.Gly42Arg) n.394G>C n.384G>C | ClinVar dbSNP |
2 | g.47408511G>T | CA346729706 | MSH2 | c.322G>T (p.Gly108Ter) c.124G>T (p.Gly42Ter) n.394G>T n.384G>T | ClinVar dbSNP |
2 | g.47408512G>A | CA346729711 | MSH2 | c.323G>A (p.Gly108Glu) c.125G>A (p.Gly42Glu) n.395G>A n.385G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408512G>C | CA346729712 | MSH2 | c.323G>C (p.Gly108Ala) c.125G>C (p.Gly42Ala) n.395G>C n.385G>C | dbSNP gnomAD v4 |
2 | g.47408512G= | CA2495830285 | MSH2 | c.323G= (p.Gly108=) c.125G= (p.Gly42=) n.395G= n.385G= | |
2 | g.47408512G>T | CA346729713 | MSH2 | c.323G>T (p.Gly108Val) c.125G>T (p.Gly42Val) n.395G>T n.385G>T | ClinVar dbSNP |
2 | g.47408513A= | CA2495830286 | MSH2 | c.324A= (p.Gly108=) c.126A= (p.Gly42=) n.396A= n.386A= | |
2 | g.47408513A>C | CA425965700 | MSH2 | c.324A>C (p.Gly108=) c.126A>C (p.Gly42=) n.396A>C n.386A>C | |
2 | g.47408513A>G | CA425965702 | MSH2 | c.324A>G (p.Gly108=) c.126A>G (p.Gly42=) n.396A>G n.386A>G | |
2 | g.47408513A>T | CA425965701 | MSH2 | c.324A>T (p.Gly108=) c.126A>T (p.Gly42=) n.396A>T n.386A>T | |
2 | g.47408513_47408514insCTTC | CA2495830287 | MSH2 | c.324_325insCTTC (p.Asn109LeufsTer3) c.126_127insCTTC (p.Asn43LeufsTer3) n.396_397insCTTC n.386_387insCTTC | dbSNP |
2 | g.47408514A= | CA2495830288 | MSH2 | c.325A= (p.Asn109=) c.127A= (p.Asn43=) n.397A= n.387A= | |
2 | g.47408514A>C | CA346729714 | MSH2 | c.325A>C (p.Asn109His) c.127A>C (p.Asn43His) n.397A>C n.387A>C | |
2 | g.47408514A>G | CA037871 | MSH2 | c.325A>G (p.Asn109Asp) c.127A>G (p.Asn43Asp) n.397A>G n.387A>G | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.47408514A>T | CA346729717 | MSH2 | c.325A>T (p.Asn109Tyr) c.127A>T (p.Asn43Tyr) n.397A>T n.387A>T | |
2 | g.47408514_47408515insTGCTGCTG | CA2495830289 | MSH2 | c.325_326insTGCTGCTG (p.Asn109MetfsTer?) c.127_128insTGCTGCTG (p.Asn43MetfsTer?) n.397_398insTGCTGCTG n.387_388insTGCTGCTG | dbSNP |
2 | g.47408515A= | CA2495830290 | MSH2 | c.326A= (p.Asn109=) c.128A= (p.Asn43=) n.398A= n.388A= | |
2 | g.47408515A>C | CA346729978 | MSH2 | c.326A>C (p.Asn109Thr) c.128A>C (p.Asn43Thr) n.398A>C n.388A>C | |
2 | g.47408515A>G | CA037887 | MSH2 | c.326A>G (p.Asn109Ser) c.128A>G (p.Asn43Ser) n.398A>G n.388A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408515A>T | CA346729983 | MSH2 | c.326A>T (p.Asn109Ile) c.128A>T (p.Asn43Ile) n.398A>T n.388A>T | dbSNP |
2 | g.47408516T>A | CA346729988 | MSH2 | c.327T>A (p.Asn109Lys) c.129T>A (p.Asn43Lys) n.399T>A n.389T>A | |
2 | g.47408516T>C | CA021015 | MSH2 | c.327T>C (p.Asn109=) c.129T>C (p.Asn43=) n.399T>C n.389T>C | ClinVar dbSNP |
2 | g.47408516T>G | CA346729985 | MSH2 | c.327T>G (p.Asn109Lys) c.129T>G (p.Asn43Lys) n.399T>G n.389T>G | |
2 | g.47408516T= | CA2495830291 | MSH2 | c.327T= (p.Asn109=) c.129T= (p.Asn43=) n.399T= n.389T= | |
2 | g.47408517A= | CA2495830293 | MSH2 | c.328A= (p.Lys110=) c.130A= (p.Lys44=) n.400A= n.390A= | |
2 | g.47408517A>C | CA021018 | MSH2 | c.328A>C (p.Lys110Gln) c.130A>C (p.Lys44Gln) n.400A>C n.390A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.47408517A>G | CA346729991 | MSH2 | c.328A>G (p.Lys110Glu) c.130A>G (p.Lys44Glu) n.400A>G n.390A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408517A>T | CA346729993 | MSH2 | c.328A>T (p.Lys110Ter) c.130A>T (p.Lys44Ter) n.400A>T n.390A>T | dbSNP |
2 | g.47408518dup | CA2495830292 | MSH2 | c.329dup (p.Ala111GlyfsTer6) c.131dup (p.Ala45GlyfsTer6) n.401dup n.391dup | dbSNP |
2 | g.47408518del | CA2695200774 | MSH2 | c.329del (p.Lys110ArgfsTer?) c.131del (p.Lys44ArgfsTer?) n.401del n.391del | ClinVar |
2 | g.47408518_47408527del | CA2580067453 | MSH2 | c.329_338del (p.Lys110ArgfsTer?) c.131_140del (p.Lys44ArgfsTer?) n.401_410del n.391_400del | ClinVar |
2 | g.47408518A= | CA2495830294 | MSH2 | c.329A= (p.Lys110=) c.131A= (p.Lys44=) n.401A= n.391A= | |
2 | g.47408518A>C | CA346729995 | MSH2 | c.329A>C (p.Lys110Thr) c.131A>C (p.Lys44Thr) n.401A>C n.391A>C | |
2 | g.47408518A>G | CA021021 | MSH2 | c.329A>G (p.Lys110Arg) c.131A>G (p.Lys44Arg) n.401A>G n.391A>G | dbSNP |
2 | g.47408518A>T | CA346729998 | MSH2 | c.329A>T (p.Lys110Met) c.131A>T (p.Lys44Met) n.401A>T n.391A>T | dbSNP |
2 | g.47408519G>A | CA425965842 | MSH2 | c.330G>A (p.Lys110=) c.132G>A (p.Lys44=) n.402G>A n.392G>A | ClinVar dbSNP |
2 | g.47408519G>C | CA346730003 | MSH2 | c.330G>C (p.Lys110Asn) c.132G>C (p.Lys44Asn) n.402G>C n.392G>C | ClinVar dbSNP |
2 | g.47408519G= | CA2495830295 | MSH2 | c.330G= (p.Lys110=) c.132G= (p.Lys44=) n.402G= n.392G= | |
2 | g.47408519G>T | CA346730000 | MSH2 | c.330G>T (p.Lys110Asn) c.132G>T (p.Lys44Asn) n.402G>T n.392G>T | dbSNP |
2 | g.47408520dup | CA2580067454 | MSH2 | c.331dup (p.Ala111GlyfsTer6) c.133dup (p.Ala45GlyfsTer6) n.403dup n.393dup | ClinVar |
2 | g.47408520del | CA2695200775 | MSH2 | c.331del (p.Ala111HisfsTer?) c.133del (p.Ala45HisfsTer?) n.403del n.393del | ClinVar |
2 | g.47408520G>A | CA346730004 | MSH2 | c.331G>A (p.Ala111Thr) c.133G>A (p.Ala45Thr) n.403G>A n.393G>A | ClinVar dbSNP |
2 | g.47408520G>C | CA346730005 | MSH2 | c.331G>C (p.Ala111Pro) c.133G>C (p.Ala45Pro) n.403G>C n.393G>C | dbSNP |
2 | g.47408520G= | CA2495830296 | MSH2 | c.331G= (p.Ala111=) c.133G= (p.Ala45=) n.403G= n.393G= | |
2 | g.47408520G>T | CA346730006 | MSH2 | c.331G>T (p.Ala111Ser) c.133G>T (p.Ala45Ser) n.403G>T n.393G>T | ClinVar dbSNP |
2 | g.47408521C>A | CA346730009 | MSH2 | c.332C>A (p.Ala111Glu) c.134C>A (p.Ala45Glu) n.404C>A n.394C>A | dbSNP gnomAD v4 |
2 | g.47408521C= | CA2495830297 | MSH2 | c.332C= (p.Ala111=) c.134C= (p.Ala45=) n.404C= n.394C= | |
2 | g.47408521C>G | CA346730011 | MSH2 | c.332C>G (p.Ala111Gly) c.134C>G (p.Ala45Gly) n.404C>G n.394C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408521C>T | CA346730012 | MSH2 | c.332C>T (p.Ala111Val) c.134C>T (p.Ala45Val) n.404C>T n.394C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408521dup | CA2695200776 | MSH2 | c.332dup (p.Ser112IlefsTer5) c.134dup (p.Ser46IlefsTer5) n.404dup n.394dup | ClinVar |
2 | g.47408522A= | CA2495830298 | MSH2 | c.333A= (p.Ala111=) c.135A= (p.Ala45=) n.405A= n.395A= | |
2 | g.47408522A>C | CA425965843 | MSH2 | c.333A>C (p.Ala111=) c.135A>C (p.Ala45=) n.405A>C n.395A>C | |
2 | g.47408522A>G | CA16610996 | MSH2 | c.333A>G (p.Ala111=) c.135A>G (p.Ala45=) n.405A>G n.395A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408522A>T | CA425965844 | MSH2 | c.333A>T (p.Ala111=) c.135A>T (p.Ala45=) n.405A>T n.395A>T | |
2 | g.47408522_47408523insCC | CA2586969091 | MSH2 | c.333_334insCC (p.Ser112ProfsTer?) c.135_136insCC (p.Ser46ProfsTer?) n.405_406insCC n.395_396insCC | |
2 | g.47408523T>A | CA346730013 | MSH2 | c.334T>A (p.Ser112Thr) c.136T>A (p.Ser46Thr) n.406T>A n.396T>A | |
2 | g.47408523T>C | CA346730017 | MSH2 | c.334T>C (p.Ser112Pro) c.136T>C (p.Ser46Pro) n.406T>C n.396T>C | |
2 | g.47408523T>G | CA346730015 | MSH2 | c.334T>G (p.Ser112Ala) c.136T>G (p.Ser46Ala) n.406T>G n.396T>G | gnomAD v4 |
2 | g.47408524C>A | CA346730019 | MSH2 | c.335C>A (p.Ser112Tyr) c.137C>A (p.Ser46Tyr) n.407C>A n.397C>A | dbSNP |
2 | g.47408524C= | CA2495830299 | MSH2 | c.335C= (p.Ser112=) c.137C= (p.Ser46=) n.407C= n.397C= | |
2 | g.47408524C>G | CA037917 | MSH2 | c.335C>G (p.Ser112Cys) c.137C>G (p.Ser46Cys) n.407C>G n.397C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408524C>T | CA10584205 | MSH2 | c.335C>T (p.Ser112Phe) c.137C>T (p.Ser46Phe) n.407C>T n.397C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408525C>A | CA021025 | MSH2 | c.336C>A (p.Ser112=) c.138C>A (p.Ser46=) n.408C>A n.398C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408525C= | CA2495830300 | MSH2 | c.336C= (p.Ser112=) c.138C= (p.Ser46=) n.408C= n.398C= | |
2 | g.47408525C>G | CA425965846 | MSH2 | c.336C>G (p.Ser112=) c.138C>G (p.Ser46=) n.408C>G n.398C>G | ClinVar dbSNP |
2 | g.47408525C>T | CA425965845 | MSH2 | c.336C>T (p.Ser112=) c.138C>T (p.Ser46=) n.408C>T n.398C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408526A= | CA2495830301 | MSH2 | c.337A= (p.Lys113=) c.139A= (p.Lys47=) n.409A= n.399A= | |
2 | g.47408526A>C | CA346730024 | MSH2 | c.337A>C (p.Lys113Gln) c.139A>C (p.Lys47Gln) n.409A>C n.399A>C | ClinVar |
2 | g.47408526A>G | CA346730026 | MSH2 | c.337A>G (p.Lys113Glu) c.139A>G (p.Lys47Glu) n.409A>G n.399A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408526A>T | CA346730027 | MSH2 | c.337A>T (p.Lys113Ter) c.139A>T (p.Lys47Ter) n.409A>T n.399A>T | ClinVar dbSNP |
2 | g.47408527A= | CA2495830302 | MSH2 | c.338A= (p.Lys113=) c.140A= (p.Lys47=) n.410A= n.400A= | |
2 | g.47408527A>C | CA346730029 | MSH2 | c.338A>C (p.Lys113Thr) c.140A>C (p.Lys47Thr) n.410A>C n.400A>C | |
2 | g.47408527A>G | CA346730031 | MSH2 | c.338A>G (p.Lys113Arg) c.140A>G (p.Lys47Arg) n.410A>G n.400A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408527A>T | CA346730033 | MSH2 | c.338A>T (p.Lys113Met) c.140A>T (p.Lys47Met) n.410A>T n.400A>T | dbSNP |
2 | g.47408528G>A | CA021028 | MSH2 | c.339G>A (p.Lys113=) c.141G>A (p.Lys47=) n.411G>A n.401G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408528G>C | CA346730037 | MSH2 | c.339G>C (p.Lys113Asn) c.141G>C (p.Lys47Asn) n.411G>C n.401G>C | ClinVar dbSNP |
2 | g.47408528G= | CA2495830303 | MSH2 | c.339G= (p.Lys113=) c.141G= (p.Lys47=) n.411G= n.401G= | |
2 | g.47408528G>T | CA346730036 | MSH2 | c.339G>T (p.Lys113Asn) c.141G>T (p.Lys47Asn) n.411G>T n.401G>T | dbSNP |
2 | g.47408529del | CA2586969092 | MSH2 | c.340del (p.Glu114ArgfsTer?) c.142del (p.Glu48ArgfsTer?) n.412del n.402del | |
2 | g.47408529G>A | CA346730039 | MSH2 | c.340G>A (p.Glu114Lys) c.142G>A (p.Glu48Lys) n.412G>A n.402G>A | dbSNP |
2 | g.47408529G>C | CA346730042 | MSH2 | c.340G>C (p.Glu114Gln) c.142G>C (p.Glu48Gln) n.412G>C n.402G>C | dbSNP |
2 | g.47408529G= | CA2495830304 | MSH2 | c.340G= (p.Glu114=) c.142G= (p.Glu48=) n.412G= n.402G= | |
2 | g.47408529G>T | CA10581993 | MSH2 | c.340G>T (p.Glu114Ter) c.142G>T (p.Glu48Ter) n.412G>T n.402G>T | ClinVar dbSNP |
2 | g.47408530A>C | CA346730044 | MSH2 | c.341A>C (p.Glu114Ala) c.143A>C (p.Glu48Ala) n.413A>C n.403A>C | gnomAD v4 |
2 | g.47408530A>G | CA346730048 | MSH2 | c.341A>G (p.Glu114Gly) c.143A>G (p.Glu48Gly) n.413A>G n.403A>G | |
2 | g.47408530A>T | CA346730046 | MSH2 | c.341A>T (p.Glu114Val) c.143A>T (p.Glu48Val) n.413A>T n.403A>T | |
2 | g.47408556_47408557insAAGAATGATTGGTATTTGGCATATAAGG | CA2580067458 | MSH2 | c.366+1_366+2insAAGAATGATTGGTATTTGGCATATAAGG c.168+1_168+2insAAGAATGATTGGTATTTGGCATATAAGG n.438+1_438+2insAAGAATGATTGGTATTTGGCATATAAGG n.428+1_428+2insAAGAATGATTGGTATTTGGCATATAAGG | ClinVar |
2 | g.47408531G>A | CA425965847 | MSH2 | c.342G>A (p.Glu114=) c.144G>A (p.Glu48=) n.414G>A n.404G>A | dbSNP |
2 | g.47408531G>C | CA346730050 | MSH2 | c.342G>C (p.Glu114Asp) c.144G>C (p.Glu48Asp) n.414G>C n.404G>C | dbSNP |
2 | g.47408531G>T | CA346730051 | MSH2 | c.342G>T (p.Glu114Asp) c.144G>T (p.Glu48Asp) n.414G>T n.404G>T | dbSNP |
2 | g.47408531_47408532delinsGA | CA2495830305 | MSH2 | c.342_343delinsGA (p.Glu114=) c.144_145delinsGA (p.Glu48=) n.414_415delinsGA n.404_405delinsGA | |
2 | g.47408532A= | CA2495830306 | MSH2 | c.343A= (p.Asn115=) c.145A= (p.Asn49=) n.415A= n.405A= | |
2 | g.47408532A>C | CA346730053 | MSH2 | c.343A>C (p.Asn115His) c.145A>C (p.Asn49His) n.415A>C n.405A>C | |
2 | g.47408532A>G | CA346730055 | MSH2 | c.343A>G (p.Asn115Asp) c.145A>G (p.Asn49Asp) n.415A>G n.405A>G | dbSNP COSMIC |
2 | g.47408532A>T | CA346730057 | MSH2 | c.343A>T (p.Asn115Tyr) c.145A>T (p.Asn49Tyr) n.415A>T n.405A>T | ClinVar dbSNP |
2 | g.47408533del | CA021035 | MSH2 | c.344del (p.Asn115MetfsTer?) c.146del (p.Asn49MetfsTer?) n.416del n.406del | ClinVar dbSNP |
2 | g.47408533A>C | CA346730059 | MSH2 | c.344A>C (p.Asn115Thr) c.146A>C (p.Asn49Thr) n.416A>C n.406A>C | |
2 | g.47408533A>G | CA346730061 | MSH2 | c.344A>G (p.Asn115Ser) c.146A>G (p.Asn49Ser) n.416A>G n.406A>G | |
2 | g.47408533A>T | CA346730063 | MSH2 | c.344A>T (p.Asn115Ile) c.146A>T (p.Asn49Ile) n.416A>T n.406A>T | dbSNP |
2 | g.47408533_47408537delinsATGAT | CA2495830307 | MSH2 | c.344_348delinsATGAT (p.Asn115=) c.146_150delinsATGAT (p.Asn49=) n.416_420delinsATGAT n.406_410delinsATGAT | |
2 | g.47408534T>A | CA346730064 | MSH2 | c.345T>A (p.Asn115Lys) c.147T>A (p.Asn49Lys) n.417T>A n.407T>A | dbSNP |
2 | g.47408534T>C | CA425965848 | MSH2 | c.345T>C (p.Asn115=) c.147T>C (p.Asn49=) n.417T>C n.407T>C | ClinVar |
2 | g.47408534T>G | CA037994 | MSH2 | c.345T>G (p.Asn115Lys) c.147T>G (p.Asn49Lys) n.417T>G n.407T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408534T= | CA2495830308 | MSH2 | c.345T= (p.Asn115=) c.147T= (p.Asn49=) n.417T= n.407T= | |
2 | g.47408536_47408539del | CA021038 | MSH2 | c.347_350del (p.Asp116GlyfsTer?) c.149_152del (p.Asp50GlyfsTer?) n.419_422del n.409_412del | ClinVar dbSNP |
2 | g.47408535G>A | CA346730068 | MSH2 | c.346G>A (p.Asp116Asn) c.148G>A (p.Asp50Asn) n.418G>A n.408G>A | dbSNP |
2 | g.47408535G>C | CA346730071 | MSH2 | c.346G>C (p.Asp116His) c.148G>C (p.Asp50His) n.418G>C n.408G>C | dbSNP |
2 | g.47408535G>T | CA346730073 | MSH2 | c.346G>T (p.Asp116Tyr) c.148G>T (p.Asp50Tyr) n.418G>T n.408G>T | |
2 | g.47408536A= | CA2495830310 | MSH2 | c.347A= (p.Asp116=) c.149A= (p.Asp50=) n.419A= n.409A= | |
2 | g.47408536A>C | CA346730078 | MSH2 | c.347A>C (p.Asp116Ala) c.149A>C (p.Asp50Ala) n.419A>C n.409A>C | |
2 | g.47408536A>G | CA346730075 | MSH2 | c.347A>G (p.Asp116Gly) c.149A>G (p.Asp50Gly) n.419A>G n.409A>G | |
2 | g.47408536A>T | CA46675624 | MSH2 | c.347A>T (p.Asp116Val) c.149A>T (p.Asp50Val) n.419A>T n.409A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408536_47408543delinsATTGGTAT | CA2495830309 | MSH2 | c.347_354delinsATTGGTAT (p.Asp116=) c.149_156delinsATTGGTAT (p.Asp50=) n.419_426delinsATTGGTAT n.409_416delinsATTGGTAT | |
2 | g.47408537T>A | CA346730080 | MSH2 | c.348T>A (p.Asp116Glu) c.150T>A (p.Asp50Glu) n.420T>A n.410T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408537T>C | CA038002 | MSH2 | c.348T>C (p.Asp116=) c.150T>C (p.Asp50=) n.420T>C n.410T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408537T>G | CA346730083 | MSH2 | c.348T>G (p.Asp116Glu) c.150T>G (p.Asp50Glu) n.420T>G n.410T>G | |
2 | g.47408537T= | CA2495830311 | MSH2 | c.348T= (p.Asp116=) c.150T= (p.Asp50=) n.420T= n.410T= | |
2 | g.47408541_47408547del | CA10584206 | MSH2 | c.352_358del (p.Tyr118HisfsTer?) c.154_160del (p.Tyr52HisfsTer?) n.424_430del n.414_420del | ClinVar dbSNP |
2 | g.47408538T>A | CA346730086 | MSH2 | c.349T>A (p.Trp117Arg) c.151T>A (p.Trp51Arg) n.421T>A n.411T>A | |
2 | g.47408538T>C | CA346730087 | MSH2 | c.349T>C (p.Trp117Arg) c.151T>C (p.Trp51Arg) n.421T>C n.411T>C | ClinVar gnomAD v4 |
2 | g.47408538T>G | CA346730088 | MSH2 | c.349T>G (p.Trp117Gly) c.151T>G (p.Trp51Gly) n.421T>G n.411T>G | ClinVar dbSNP |
2 | g.47408538T= | CA2495830312 | MSH2 | c.349T= (p.Trp117=) c.151T= (p.Trp51=) n.421T= n.411T= | |
2 | g.47408539G>A | CA16610782 | MSH2 | c.350G>A (p.Trp117Ter) c.152G>A (p.Trp51Ter) n.422G>A n.412G>A | ClinVar dbSNP |
2 | g.47408539G>C | CA021042 | MSH2 | c.350G>C (p.Trp117Ser) c.152G>C (p.Trp51Ser) n.422G>C n.412G>C | ClinVar dbSNP |
2 | g.47408539G= | CA2495830313 | MSH2 | c.350G= (p.Trp117=) c.152G= (p.Trp51=) n.422G= n.412G= | |
2 | g.47408539G>T | CA346730090 | MSH2 | c.350G>T (p.Trp117Leu) c.152G>T (p.Trp51Leu) n.422G>T n.412G>T | ClinVar dbSNP |
2 | g.47408540G>A | CA346730094 | MSH2 | c.351G>A (p.Trp117Ter) c.153G>A (p.Trp51Ter) n.423G>A n.413G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408540G>C | CA346730099 | MSH2 | c.351G>C (p.Trp117Cys) c.153G>C (p.Trp51Cys) n.423G>C n.413G>C | dbSNP |
2 | g.47408540G= | CA2495830314 | MSH2 | c.351G= (p.Trp117=) c.153G= (p.Trp51=) n.423G= n.413G= | |
2 | g.47408540G>T | CA346730092 | MSH2 | c.351G>T (p.Trp117Cys) c.153G>T (p.Trp51Cys) n.423G>T n.413G>T | dbSNP |
2 | g.47408541T>A | CA346730101 | MSH2 | c.352T>A (p.Tyr118Asn) c.154T>A (p.Tyr52Asn) n.424T>A n.414T>A | dbSNP gnomAD v4 |
2 | g.47408541T>C | CA346730103 | MSH2 | c.352T>C (p.Tyr118His) c.154T>C (p.Tyr52His) n.424T>C n.414T>C | |
2 | g.47408541T>G | CA346730105 | MSH2 | c.352T>G (p.Tyr118Asp) c.154T>G (p.Tyr52Asp) n.424T>G n.414T>G | dbSNP |
2 | g.47408541dup | CA331577 | MSH2 | c.352dup (p.Tyr118LeufsTer5) c.154dup (p.Tyr52LeufsTer5) n.424dup n.414dup | ClinVar dbSNP |
2 | g.47408542A= | CA2495830315 | MSH2 | c.353A= (p.Tyr118=) c.155A= (p.Tyr52=) n.425A= n.415A= | |
2 | g.47408542A>C | CA346730107 | MSH2 | c.353A>C (p.Tyr118Ser) c.155A>C (p.Tyr52Ser) n.425A>C n.415A>C | |
2 | g.47408542A>G | CA346730108 | MSH2 | c.353A>G (p.Tyr118Cys) c.155A>G (p.Tyr52Cys) n.425A>G n.415A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408542A>T | CA346730110 | MSH2 | c.353A>T (p.Tyr118Phe) c.155A>T (p.Tyr52Phe) n.425A>T n.415A>T | |
2 | g.47408543T>A | CA346730112 | MSH2 | c.354T>A (p.Tyr118Ter) c.156T>A (p.Tyr52Ter) n.426T>A n.416T>A | dbSNP |
2 | g.47408543T>C | CA425965851 | MSH2 | c.354T>C (p.Tyr118=) c.156T>C (p.Tyr52=) n.426T>C n.416T>C | ClinVar dbSNP |
2 | g.47408543T>G | CA346730114 | MSH2 | c.354T>G (p.Tyr118Ter) c.156T>G (p.Tyr52Ter) n.426T>G n.416T>G | ClinVar dbSNP |
2 | g.47408543T= | CA2495830316 | MSH2 | c.354T= (p.Tyr118=) c.156T= (p.Tyr52=) n.426T= n.416T= | |
2 | g.47408544T>A | CA346730116 | MSH2 | c.355T>A (p.Leu119Met) c.157T>A (p.Leu53Met) n.427T>A n.417T>A | dbSNP |
2 | g.47408544T>C | CA425965852 | MSH2 | c.355T>C (p.Leu119=) c.157T>C (p.Leu53=) n.427T>C n.417T>C | |
2 | g.47408544T>G | CA346730118 | MSH2 | c.355T>G (p.Leu119Val) c.157T>G (p.Leu53Val) n.427T>G n.417T>G | |
2 | g.47408545T>A | CA346730120 | MSH2 | c.356T>A (p.Leu119Ter) c.158T>A (p.Leu53Ter) n.428T>A n.418T>A | ClinVar dbSNP |
2 | g.47408545T>C | CA346730121 | MSH2 | c.356T>C (p.Leu119Ser) c.158T>C (p.Leu53Ser) n.428T>C n.418T>C | dbSNP |
2 | g.47408545T>G | CA346730123 | MSH2 | c.356T>G (p.Leu119Trp) c.158T>G (p.Leu53Trp) n.428T>G n.418T>G | |
2 | g.47408545T= | CA2495830317 | MSH2 | c.356T= (p.Leu119=) c.158T= (p.Leu53=) n.428T= n.418T= | |
2 | g.47408545_47408546insAT | CA2580067462 | MSH2 | c.356_357insAT (p.Ala120TrpfsTer?) c.158_159insAT (p.Ala54TrpfsTer?) n.428_429insAT n.418_419insAT | ClinVar |
2 | g.47408546G>A | CA425965853 | MSH2 | c.357G>A (p.Leu119=) c.159G>A (p.Leu53=) n.429G>A n.419G>A | ClinVar dbSNP |
2 | g.47408546G>C | CA346730125 | MSH2 | c.357G>C (p.Leu119Phe) c.159G>C (p.Leu53Phe) n.429G>C n.419G>C | dbSNP |
2 | g.47408546G= | CA2495830318 | MSH2 | c.357G= (p.Leu119=) c.159G= (p.Leu53=) n.429G= n.419G= | |
2 | g.47408546G>T | CA346730127 | MSH2 | c.357G>T (p.Leu119Phe) c.159G>T (p.Leu53Phe) n.429G>T n.419G>T | ClinVar dbSNP |
2 | g.47408547G>A | CA346730130 | MSH2 | c.358G>A (p.Ala120Thr) c.160G>A (p.Ala54Thr) n.430G>A n.420G>A | ClinVar dbSNP |
2 | g.47408547G>C | CA346730132 | MSH2 | c.358G>C (p.Ala120Pro) c.160G>C (p.Ala54Pro) n.430G>C n.420G>C | dbSNP |
2 | g.47408547G>T | CA346730134 | MSH2 | c.358G>T (p.Ala120Ser) c.160G>T (p.Ala54Ser) n.430G>T n.420G>T | dbSNP |
2 | g.47408548C>A | CA346730136 | MSH2 | c.359C>A (p.Ala120Glu) c.161C>A (p.Ala54Glu) n.431C>A n.421C>A | dbSNP gnomAD v4 |
2 | g.47408548C>G | CA346730138 | MSH2 | c.359C>G (p.Ala120Gly) c.161C>G (p.Ala54Gly) n.431C>G n.421C>G | dbSNP |
2 | g.47408548C>T | CA346730140 | MSH2 | c.359C>T (p.Ala120Val) c.161C>T (p.Ala54Val) n.431C>T n.421C>T | dbSNP gnomAD v4 |
2 | g.47408549A>C | CA425965857 | MSH2 | c.360A>C (p.Ala120=) c.162A>C (p.Ala54=) n.432A>C n.422A>C | |
2 | g.47408549A>G | CA425965854 | MSH2 | c.360A>G (p.Ala120=) c.162A>G (p.Ala54=) n.432A>G n.422A>G | ClinVar dbSNP |
2 | g.47408549A>T | CA425965855 | MSH2 | c.360A>T (p.Ala120=) c.162A>T (p.Ala54=) n.432A>T n.422A>T | dbSNP |
2 | g.47408552_47408553dup | CA2580611326 | MSH2 | c.363_364dup (p.Lys122IlefsTer?) c.165_166dup (p.Lys56IlefsTer?) n.435_436dup n.425_426dup | ClinVar |
2 | g.47408552_47408553del | CA2580611325 | MSH2 | c.363_364del (p.Tyr121Ter) c.165_166del (p.Tyr55Ter) n.435_436del n.425_426del | ClinVar |
2 | g.47408550T>A | CA10581994 | MSH2 | c.361T>A (p.Tyr121Asn) c.163T>A (p.Tyr55Asn) n.433T>A n.423T>A | ClinVar dbSNP |
2 | g.47408550T>C | CA346730141 | MSH2 | c.361T>C (p.Tyr121His) c.163T>C (p.Tyr55His) n.433T>C n.423T>C | dbSNP |
2 | g.47408550T>G | CA346730143 | MSH2 | c.361T>G (p.Tyr121Asp) c.163T>G (p.Tyr55Asp) n.433T>G n.423T>G | |
2 | g.47408550T= | CA2495830319 | MSH2 | c.361T= (p.Tyr121=) c.163T= (p.Tyr55=) n.433T= n.423T= | |
2 | g.47408550_47408551delinsTA | CA2495830320 | MSH2 | c.361_362delinsTA (p.Tyr121=) c.163_164delinsTA (p.Tyr55=) n.433_434delinsTA n.423_424delinsTA | |
2 | g.47408551del | CA645369154 | MSH2 | c.362del (p.Tyr121LeufsTer?) c.164del (p.Tyr55LeufsTer?) n.434del n.424del | ClinVar dbSNP |
2 | g.47408551A= | CA2495830321 | MSH2 | c.362A= (p.Tyr121=) c.164A= (p.Tyr55=) n.434A= n.424A= | |
2 | g.47408551A>C | CA346730146 | MSH2 | c.362A>C (p.Tyr121Ser) c.164A>C (p.Tyr55Ser) n.434A>C n.424A>C | |
2 | g.47408551A>G | CA021046 | MSH2 | c.362A>G (p.Tyr121Cys) c.164A>G (p.Tyr55Cys) n.434A>G n.424A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408551A>T | CA346730148 | MSH2 | c.362A>T (p.Tyr121Phe) c.164A>T (p.Tyr55Phe) n.434A>T n.424A>T | dbSNP |
2 | g.47408552del | CA2576960889 | MSH2 | c.363del (p.Tyr121Ter) c.165del (p.Tyr55Ter) n.435del n.425del | |
2 | g.47408552T>A | CA346730150 | MSH2 | c.363T>A (p.Tyr121Ter) c.165T>A (p.Tyr55Ter) n.435T>A n.425T>A | ClinVar dbSNP |
2 | g.47408552T>C | CA425965862 | MSH2 | c.363T>C (p.Tyr121=) c.165T>C (p.Tyr55=) n.435T>C n.425T>C | dbSNP |
2 | g.47408552T>G | CA021049 | MSH2 | c.363T>G (p.Tyr121Ter) c.165T>G (p.Tyr55Ter) n.435T>G n.425T>G | ClinVar dbSNP |
2 | g.47408552T= | CA2495830322 | MSH2 | c.363T= (p.Tyr121=) c.165T= (p.Tyr55=) n.435T= n.425T= | |
2 | g.47408552_47408555dup | CA2695200779 | MSH2 | c.363_366dup (p.Ala123Ter) c.165_168dup (p.Ala57Ter) n.435_438dup n.425_428dup | ClinVar |
2 | g.47408553A= | CA2495830324 | MSH2 | c.364A= (p.Lys122=) c.166A= (p.Lys56=) n.436A= n.426A= | |
2 | g.47408553A>C | CA46675650 | MSH2 | c.364A>C (p.Lys122Gln) c.166A>C (p.Lys56Gln) n.436A>C n.426A>C | ClinVar dbSNP |
2 | g.47408553A>G | CA346730156 | MSH2 | c.364A>G (p.Lys122Glu) c.166A>G (p.Lys56Glu) n.436A>G n.426A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408553A>T | CA346730154 | MSH2 | c.364A>T (p.Lys122Ter) c.166A>T (p.Lys56Ter) n.436A>T n.426A>T | ClinVar |
2 | g.47408553_47408554delinsAA | CA2495830323 | MSH2 | c.364_365delinsAA (p.Lys122=) c.166_167delinsAA (p.Lys56=) n.436_437delinsAA n.426_427delinsAA |