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.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.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 |