Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47401439_47411294del | CA331194 | ClinVar | ||
2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
2 | g.47409413_47411458del | CA331584 | MSH2 | c.367-681_646-956del c.169-681_448-956del n.439-681_718-956del n.429-681_708-956del | ClinVar |
2 | g.47409628_47411030del | CA331583 | MSH2 | c.367-466_645+658del c.169-466_447+658del n.439-466_717+658del n.429-466_707+658del | ClinVar |
2 | g.47409642_47411692del | CA331582 | MSH2 | c.367-452_646-722del c.169-452_448-722del n.439-452_718-722del n.429-452_708-722del | ClinVar |
2 | g.47409723_47411901del | CA331581 | MSH2 | c.367-371_646-513del c.169-371_448-513del n.439-371_718-513del n.429-371_708-513del | ClinVar |
2 | g.47410092_47411114del | CA2499216005 | MSH2 | c.367-2_645+742del c.169-2_447+742del n.439-2_717+742del n.429-2_707+742del | ClinVar |
2 | g.47410092_47410804del | CA2499216007 | MSH2 | c.367-2_645+432del c.169-2_447+432del n.439-2_717+432del n.429-2_707+432del | ClinVar dbSNP |
2 | g.47410091_47411003del | CA2499216006 | MSH2 | c.367-3_645+631del c.169-3_447+631del n.439-3_717+631del n.429-3_707+631del | ClinVar dbSNP |
2 | g.47410092_47410373del | CA2499216008 | MSH2 | c.367-2_645+1del c.169-2_447+1del n.439-2_717+1del n.429-2_707+1del | ClinVar dbSNP |
2 | g.47410095_47410373del | CA2581463443 | MSH2 | c.368_645+1del c.170_447+1del n.440_717+1del n.430_707+1del | |
2 | g.47410238_47410310dup | CA331612 | MSH2 | c.511_583dup (p.Gly195GlufsTer7) c.313_385dup (p.Gly129GlufsTer7) n.583_655dup n.573_645dup | ClinVar dbSNP |
2 | g.47410249_47410291delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG | CA2495831251 | MSH2 | c.522_564delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG (p.Gly174=) c.324_366delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG (p.Gly108=) n.594_636delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG n.584_626delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG | |
2 | g.47410250_47410291del | CA021295 | MSH2 | c.523_564del (p.Leu175_Glu188del) c.325_366del (p.Leu109_Glu122del) n.595_636del n.585_626del | dbSNP |
2 | g.47410273_47410291dup | CA46678168 | MSH2 | c.546_564dup (p.Ala189SerfsTer6) c.348_366dup (p.Ala123SerfsTer6) n.618_636dup n.608_626dup | dbSNP |
2 | g.47410283A= | CA2495831278 | MSH2 | c.556A= (p.Asn186=) c.358A= (p.Asn120=) n.628A= n.618A= | |
2 | g.47410283A>C | CA348416 | MSH2 | c.556A>C (p.Asn186His) c.358A>C (p.Asn120His) n.628A>C n.618A>C | ClinVar dbSNP |
2 | g.47410283A>G | CA039223 | MSH2 | c.556A>G (p.Asn186Asp) c.358A>G (p.Asn120Asp) n.628A>G n.618A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410283A>T | CA346730900 | MSH2 | c.556A>T (p.Asn186Tyr) c.358A>T (p.Asn120Tyr) n.628A>T n.618A>T | dbSNP |
2 | g.47410284A= | CA2495831280 | MSH2 | c.557A= (p.Asn186=) c.359A= (p.Asn120=) n.629A= n.619A= | |
2 | g.47410284A>C | CA346730902 | MSH2 | c.557A>C (p.Asn186Thr) c.359A>C (p.Asn120Thr) n.629A>C n.619A>C | ClinVar dbSNP |
2 | g.47410284A>G | CA021391 | MSH2 | c.557A>G (p.Asn186Ser) c.359A>G (p.Asn120Ser) n.629A>G n.619A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410284A>T | CA346730904 | MSH2 | c.557A>T (p.Asn186Ile) c.359A>T (p.Asn120Ile) n.629A>T n.619A>T | ClinVar |
2 | g.47410284_47410293delinsATCTTGAGGC | CA2495831279 | MSH2 | c.557_566delinsATCTTGAGGC (p.Asn186=) c.359_368delinsATCTTGAGGC (p.Asn120=) n.629_638delinsATCTTGAGGC n.619_628delinsATCTTGAGGC | |
2 | g.47410285T>A | CA346730906 | MSH2 | c.558T>A (p.Asn186Lys) c.360T>A (p.Asn120Lys) n.630T>A n.620T>A | dbSNP |
2 | g.47410285T>C | CA426119579 | MSH2 | c.558T>C (p.Asn186=) c.360T>C (p.Asn120=) n.630T>C n.620T>C | |
2 | g.47410285T>G | CA346730907 | MSH2 | c.558T>G (p.Asn186Lys) c.360T>G (p.Asn120Lys) n.630T>G n.620T>G | |
2 | g.47410288_47410296del | CA021421 | MSH2 | c.561_569del (p.Glu188_Leu190del) c.363_371del (p.Glu122_Leu124del) n.633_641del n.623_631del | ClinVar dbSNP |
2 | g.47410286C>A | CA346730911 | MSH2 | c.559C>A (p.Leu187Ile) c.361C>A (p.Leu121Ile) n.631C>A n.621C>A | ClinVar dbSNP |
2 | g.47410286C= | CA2495831281 | MSH2 | c.559C= (p.Leu187=) c.361C= (p.Leu121=) n.631C= n.621C= | |
2 | g.47410286C>G | CA039245 | MSH2 | c.559C>G (p.Leu187Val) c.361C>G (p.Leu121Val) n.631C>G n.621C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410286C>T | CA346730909 | MSH2 | c.559C>T (p.Leu187Phe) c.361C>T (p.Leu121Phe) n.631C>T n.621C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410287T>A | CA346730913 | MSH2 | c.560T>A (p.Leu187His) c.362T>A (p.Leu121His) n.632T>A n.622T>A | ClinVar |
2 | g.47410287T>C | CA021405 | MSH2 | c.560T>C (p.Leu187Pro) c.362T>C (p.Leu121Pro) n.632T>C n.622T>C | ClinVar dbSNP |
2 | g.47410287T>G | CA021414 | MSH2 | c.560T>G (p.Leu187Arg) c.362T>G (p.Leu121Arg) n.632T>G n.622T>G | ClinVar dbSNP |
2 | g.47410287T= | CA2495831282 | MSH2 | c.560T= (p.Leu187=) c.362T= (p.Leu121=) n.632T= n.622T= | |
2 | g.47410288T>A | CA426119584 | MSH2 | c.561T>A (p.Leu187=) c.363T>A (p.Leu121=) n.633T>A n.623T>A | dbSNP |
2 | g.47410288T>C | CA46678265 | MSH2 | c.561T>C (p.Leu187=) c.363T>C (p.Leu121=) n.633T>C n.623T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410288T>G | CA426119585 | MSH2 | c.561T>G (p.Leu187=) c.363T>G (p.Leu121=) n.633T>G n.623T>G | |
2 | g.47410288T= | CA2495831283 | MSH2 | c.561T= (p.Leu187=) c.363T= (p.Leu121=) n.633T= n.623T= | |
2 | g.47410289G>A | CA346730917 | MSH2 | c.562G>A (p.Glu188Lys) c.364G>A (p.Glu122Lys) n.634G>A n.624G>A | ClinVar dbSNP |
2 | g.47410289G>C | CA16617558 | MSH2 | c.562G>C (p.Glu188Gln) c.364G>C (p.Glu122Gln) n.634G>C n.624G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410289G= | CA2495831284 | MSH2 | c.562G= (p.Glu188=) c.364G= (p.Glu122=) n.634G= n.624G= | |
2 | g.47410289G>T | CA346730919 | MSH2 | c.562G>T (p.Glu188Ter) c.364G>T (p.Glu122Ter) n.634G>T n.624G>T | ClinVar |
2 | g.47410289_47410290delinsGA | CA2495831285 | MSH2 | c.562_563delinsGA (p.Glu188=) c.364_365delinsGA (p.Glu122=) n.634_635delinsGA n.624_625delinsGA | |
2 | g.47410290del | CA645369187 | MSH2 | c.563del (p.Glu188GlyfsTer26) c.365del (p.Glu122GlyfsTer26) c.365del (p.Glu122GlyfsTer?) n.635del n.625del | ClinVar dbSNP |
2 | g.47410290A>C | CA346730921 | MSH2 | c.563A>C (p.Glu188Ala) c.365A>C (p.Glu122Ala) n.635A>C n.625A>C | |
2 | g.47410290A>G | CA346730923 | MSH2 | c.563A>G (p.Glu188Gly) c.365A>G (p.Glu122Gly) n.635A>G n.625A>G | dbSNP |
2 | g.47410290A>T | CA346730925 | MSH2 | c.563A>T (p.Glu188Val) c.365A>T (p.Glu122Val) n.635A>T n.625A>T | dbSNP |
2 | g.47410291G>A | CA426119589 | MSH2 | c.564G>A (p.Glu188=) c.366G>A (p.Glu122=) n.636G>A n.626G>A | ClinVar dbSNP |
2 | g.47410291G>C | CA346730927 | MSH2 | c.564G>C (p.Glu188Asp) c.366G>C (p.Glu122Asp) n.636G>C n.626G>C | ClinVar dbSNP |
2 | g.47410291G= | CA2495831286 | MSH2 | c.564G= (p.Glu188=) c.366G= (p.Glu122=) n.636G= n.626G= | |
2 | g.47410291G>T | CA346730929 | MSH2 | c.564G>T (p.Glu188Asp) c.366G>T (p.Glu122Asp) n.636G>T n.626G>T | ClinVar dbSNP |
2 | g.47410292G>A | CA039268 | MSH2 | c.565G>A (p.Ala189Thr) c.367G>A (p.Ala123Thr) n.637G>A n.627G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410292G>C | CA346730932 | MSH2 | c.565G>C (p.Ala189Pro) c.367G>C (p.Ala123Pro) n.637G>C n.627G>C | dbSNP |
2 | g.47410292G= | CA2495831287 | MSH2 | c.565G= (p.Ala189=) c.367G= (p.Ala123=) n.637G= n.627G= | |
2 | g.47410292G>T | CA021427 | MSH2 | c.565G>T (p.Ala189Ser) c.367G>T (p.Ala123Ser) n.637G>T n.627G>T | dbSNP |
2 | g.47410292_47410293dup | CA645369188 | MSH2 | c.565_566dup (p.Leu191SerfsTer24) c.367_368dup (p.Leu125SerfsTer24) c.367_368dup (p.Leu125SerfsTer?) n.637_638dup n.627_628dup | ClinVar dbSNP |
2 | g.47410293C>A | CA346730937 | MSH2 | c.566C>A (p.Ala189Asp) c.368C>A (p.Ala123Asp) n.638C>A n.628C>A | dbSNP |
2 | g.47410293C= | CA2495831288 | MSH2 | c.566C= (p.Ala189=) c.368C= (p.Ala123=) n.638C= n.628C= | |
2 | g.47410293C>G | CA021433 | MSH2 | c.566C>G (p.Ala189Gly) c.368C>G (p.Ala123Gly) n.638C>G n.628C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410293C>T | CA346730939 | MSH2 | c.566C>T (p.Ala189Val) c.368C>T (p.Ala123Val) n.638C>T n.628C>T | ClinVar dbSNP |
2 | g.47410294del | CA2499216012 | MSH2 | c.567del (p.Leu190SerfsTer24) c.369del (p.Leu124SerfsTer24) c.369del (p.Leu124SerfsTer?) n.639del n.629del | ClinVar dbSNP |
2 | g.47410294T>A | CA426119594 | MSH2 | c.567T>A (p.Ala189=) c.369T>A (p.Ala123=) n.639T>A n.629T>A | dbSNP |
2 | g.47410294T>C | CA426119595 | MSH2 | c.567T>C (p.Ala189=) c.369T>C (p.Ala123=) n.639T>C n.629T>C | ClinVar dbSNP |
2 | g.47410294T>G | CA426119596 | MSH2 | c.567T>G (p.Ala189=) c.369T>G (p.Ala123=) n.639T>G n.629T>G | |
2 | g.47410294T= | CA2495831290 | MSH2 | c.567T= (p.Ala189=) c.369T= (p.Ala123=) n.639T= n.629T= | |
2 | g.47410294_47410297delinsTCTC | CA2495831289 | MSH2 | c.567_570delinsTCTC (p.Ala189=) c.369_372delinsTCTC (p.Ala123=) n.639_642delinsTCTC n.629_632delinsTCTC | |
2 | g.47410295C>A | CA346730941 | MSH2 | c.568C>A (p.Leu190Ile) c.370C>A (p.Leu124Ile) n.640C>A n.630C>A | dbSNP |
2 | g.47410295C= | CA2495831291 | MSH2 | c.568C= (p.Leu190=) c.370C= (p.Leu124=) n.640C= n.630C= | |
2 | g.47410295C>G | CA039293 | MSH2 | c.568C>G (p.Leu190Val) c.370C>G (p.Leu124Val) n.640C>G n.630C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410295C>T | CA346730942 | MSH2 | c.568C>T (p.Leu190Phe) c.370C>T (p.Leu124Phe) n.640C>T n.630C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410295_47410296delinsG | CA2695200746 | MSH2 | c.568_569delinsG (p.Leu190AlafsTer24) c.370_371delinsG (p.Leu124AlafsTer24) c.370_371delinsG (p.Leu124AlafsTer?) n.640_641delinsG n.630_631delinsG | ClinVar |
2 | g.47410298_47410300del | CA021449 | MSH2 | c.571_573del (p.Leu191del) c.373_375del (p.Leu125del) n.643_645del n.633_635del | ClinVar dbSNP |
2 | g.47410296T>A | CA346730945 | MSH2 | c.569T>A (p.Leu190His) c.371T>A (p.Leu124His) n.641T>A n.631T>A | dbSNP |
2 | g.47410296T>C | CA346730946 | MSH2 | c.569T>C (p.Leu190Pro) c.371T>C (p.Leu124Pro) n.641T>C n.631T>C | ClinVar dbSNP |
2 | g.47410296T>G | CA346730948 | MSH2 | c.569T>G (p.Leu190Arg) c.371T>G (p.Leu124Arg) n.641T>G n.631T>G | |
2 | g.47410296T= | CA2495831292 | MSH2 | c.569T= (p.Leu190=) c.371T= (p.Leu124=) n.641T= n.631T= | |
2 | g.47410296_47410297delinsCT | CA021440 | MSH2 | c.569_570delinsCT (p.Leu190Pro) c.371_372delinsCT (p.Leu124Pro) n.641_642delinsCT n.631_632delinsCT | dbSNP |
2 | g.47410296_47410297delinsTC | CA2495831293 | MSH2 | c.569_570delinsTC (p.Leu190=) c.371_372delinsTC (p.Leu124=) n.641_642delinsTC n.631_632delinsTC | |
2 | g.47410297C>A | CA426119600 | MSH2 | c.570C>A (p.Leu190=) c.372C>A (p.Leu124=) n.642C>A n.632C>A | |
2 | g.47410297C= | CA2495831294 | MSH2 | c.570C= (p.Leu190=) c.372C= (p.Leu124=) n.642C= n.632C= | |
2 | g.47410297C>G | CA039307 | MSH2 | c.570C>G (p.Leu190=) c.372C>G (p.Leu124=) n.642C>G n.632C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410297C>T | CA426119601 | MSH2 | c.570C>T (p.Leu190=) c.372C>T (p.Leu124=) n.642C>T n.632C>T | ClinVar dbSNP |
2 | g.47410298del | CA2695200747 | MSH2 | c.571del (p.Leu191SerfsTer23) c.373del (p.Leu125SerfsTer23) c.373del (p.Leu125SerfsTer?) n.643del n.633del | ClinVar |
2 | g.47410298C>A | CA346730952 | MSH2 | c.571C>A (p.Leu191Ile) c.373C>A (p.Leu125Ile) n.643C>A n.633C>A | dbSNP |
2 | g.47410298C= | CA2495831295 | MSH2 | c.571C= (p.Leu191=) c.373C= (p.Leu125=) n.643C= n.633C= | |
2 | g.47410298C>G | CA346730954 | MSH2 | c.571C>G (p.Leu191Val) c.373C>G (p.Leu125Val) n.643C>G n.633C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410298C>T | CA346730955 | MSH2 | c.571C>T (p.Leu191Phe) c.373C>T (p.Leu125Phe) n.643C>T n.633C>T | ClinVar dbSNP |
2 | g.47410299T>A | CA346730957 | MSH2 | c.572T>A (p.Leu191His) c.374T>A (p.Leu125His) n.644T>A n.634T>A | dbSNP |
2 | g.47410299T>C | CA346730961 | MSH2 | c.572T>C (p.Leu191Pro) c.374T>C (p.Leu125Pro) n.644T>C n.634T>C | ClinVar dbSNP |
2 | g.47410299T>G | CA346730959 | MSH2 | c.572T>G (p.Leu191Arg) c.374T>G (p.Leu125Arg) n.644T>G n.634T>G | ClinVar |
2 | g.47410300C>A | CA426119605 | MSH2 | c.573C>A (p.Leu191=) c.375C>A (p.Leu125=) n.645C>A n.635C>A | dbSNP |
2 | g.47410300C= | CA2495831296 | MSH2 | c.573C= (p.Leu191=) c.375C= (p.Leu125=) n.645C= n.635C= | |
2 | g.47410300C>G | CA039329 | MSH2 | c.573C>G (p.Leu191=) c.375C>G (p.Leu125=) n.645C>G n.635C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410300C>T | CA021457 | MSH2 | c.573C>T (p.Leu191=) c.375C>T (p.Leu125=) n.645C>T n.635C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410301A= | CA2495831297 | MSH2 | c.574A= (p.Ile192=) c.376A= (p.Ile126=) n.646A= n.636A= | |
2 | g.47410301A>C | CA346730964 | MSH2 | c.574A>C (p.Ile192Leu) c.376A>C (p.Ile126Leu) n.646A>C n.636A>C | dbSNP |
2 | g.47410301A>G | CA346730965 | MSH2 | c.574A>G (p.Ile192Val) c.376A>G (p.Ile126Val) n.646A>G n.636A>G | COSMIC |
2 | g.47410301A>T | CA039357 | MSH2 | c.574A>T (p.Ile192Phe) c.376A>T (p.Ile126Phe) n.646A>T n.636A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410301_47410337del | CA2586969174 | MSH2 | c.574_610del (p.Ile192GlufsTer10) c.376_412del (p.Ile126GlufsTer10) c.376_412del (p.Ile126GlufsTer?) n.646_682del n.636_672del | |
2 | g.47410302T>A | CA346730966 | MSH2 | c.575T>A (p.Ile192Asn) c.377T>A (p.Ile126Asn) n.647T>A n.637T>A | |
2 | g.47410302T>C | CA346730967 | MSH2 | c.575T>C (p.Ile192Thr) c.377T>C (p.Ile126Thr) n.647T>C n.637T>C | gnomAD v4 |
2 | g.47410302T>G | CA346730968 | MSH2 | c.575T>G (p.Ile192Ser) c.377T>G (p.Ile126Ser) n.647T>G n.637T>G | |
2 | g.47410303C>A | CA426119609 | MSH2 | c.576C>A (p.Ile192=) c.378C>A (p.Ile126=) n.648C>A n.638C>A | dbSNP |
2 | g.47410303C= | CA2495831298 | MSH2 | c.576C= (p.Ile192=) c.378C= (p.Ile126=) n.648C= n.638C= | |
2 | g.47410303C>G | CA46678335 | MSH2 | c.576C>G (p.Ile192Met) c.378C>G (p.Ile126Met) n.648C>G n.638C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410303C>T | CA348791 | MSH2 | c.576C>T (p.Ile192=) c.378C>T (p.Ile126=) n.648C>T n.638C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410304C>A | CA346730972 | MSH2 | c.577C>A (p.Gln193Lys) c.379C>A (p.Gln127Lys) n.649C>A n.639C>A | ClinVar dbSNP |
2 | g.47410304C= | CA2495831299 | MSH2 | c.577C= (p.Gln193=) c.379C= (p.Gln127=) n.649C= n.639C= | |
2 | g.47410304C>G | CA346730973 | MSH2 | c.577C>G (p.Gln193Glu) c.379C>G (p.Gln127Glu) n.649C>G n.639C>G | dbSNP |
2 | g.47410304C>T | CA021466 | MSH2 | c.577C>T (p.Gln193Ter) c.379C>T (p.Gln127Ter) n.649C>T n.639C>T | ClinVar dbSNP COSMIC |
2 | g.47410305A= | CA2495831300 | MSH2 | c.578A= (p.Gln193=) c.380A= (p.Gln127=) n.650A= n.640A= | |
2 | g.47410305A>C | CA346730975 | MSH2 | c.578A>C (p.Gln193Pro) c.380A>C (p.Gln127Pro) n.650A>C n.640A>C | ClinVar dbSNP |
2 | g.47410305A>G | CA346730976 | MSH2 | c.578A>G (p.Gln193Arg) c.380A>G (p.Gln127Arg) n.650A>G n.640A>G | |
2 | g.47410305A>T | CA346730978 | MSH2 | c.578A>T (p.Gln193Leu) c.380A>T (p.Gln127Leu) n.650A>T n.640A>T | dbSNP |
2 | g.47410306G>A | CA426119612 | MSH2 | c.579G>A (p.Gln193=) c.381G>A (p.Gln127=) n.651G>A n.641G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410306G>C | CA346730980 | MSH2 | c.579G>C (p.Gln193His) c.381G>C (p.Gln127His) n.651G>C n.641G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410306G= | CA2495831301 | MSH2 | c.579G= (p.Gln193=) c.381G= (p.Gln127=) n.651G= n.641G= | |
2 | g.47410306G>T | CA346730982 | MSH2 | c.579G>T (p.Gln193His) c.381G>T (p.Gln127His) n.651G>T n.641G>T | dbSNP |
2 | g.47410306_47410313delinsAA | CA2580067705 | MSH2 | c.579_586delinsAA (p.Ile194_Pro196delinsThr) c.381_388delinsAA (p.Ile128_Pro130delinsThr) n.651_658delinsAA n.641_648delinsAA | ClinVar |
2 | g.47410307A= | CA2495831302 | MSH2 | c.580A= (p.Ile194=) c.382A= (p.Ile128=) n.652A= n.642A= | |
2 | g.47410307A>C | CA346730984 | MSH2 | c.580A>C (p.Ile194Leu) c.382A>C (p.Ile128Leu) n.652A>C n.642A>C | |
2 | g.47410307A>G | CA346730985 | MSH2 | c.580A>G (p.Ile194Val) c.382A>G (p.Ile128Val) n.652A>G n.642A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410307A>T | CA346730986 | MSH2 | c.580A>T (p.Ile194Phe) c.382A>T (p.Ile128Phe) n.652A>T n.642A>T | gnomAD v4 |
2 | g.47410308T>A | CA346730987 | MSH2 | c.581T>A (p.Ile194Asn) c.383T>A (p.Ile128Asn) n.653T>A n.643T>A | dbSNP |
2 | g.47410308T>C | CA021473 | MSH2 | c.581T>C (p.Ile194Thr) c.383T>C (p.Ile128Thr) n.653T>C n.643T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410308T>G | CA346730989 | MSH2 | c.581T>G (p.Ile194Ser) c.383T>G (p.Ile128Ser) n.653T>G n.643T>G | |
2 | g.47410308T= | CA2495831303 | MSH2 | c.581T= (p.Ile194=) c.383T= (p.Ile128=) n.653T= n.643T= | |
2 | g.47410309dup | CA2580067707 | MSH2 | c.582dup (p.Gly195TrpfsTer?) c.384dup (p.Gly129TrpfsTer?) n.654dup n.644dup | ClinVar |
2 | g.47410309T>A | CA426119551 | MSH2 | c.582T>A (p.Ile194=) c.384T>A (p.Ile128=) n.654T>A n.644T>A | dbSNP |
2 | g.47410309T>C | CA426119552 | MSH2 | c.582T>C (p.Ile194=) c.384T>C (p.Ile128=) n.654T>C n.644T>C | |
2 | g.47410309T>G | CA346730990 | MSH2 | c.582T>G (p.Ile194Met) c.384T>G (p.Ile128Met) n.654T>G n.644T>G | gnomAD v4 |
2 | g.47410310G>A | CA346730992 | MSH2 | c.583G>A (p.Gly195Arg) c.385G>A (p.Gly129Arg) n.655G>A n.645G>A | dbSNP |
2 | g.47410310G>C | CA346730994 | MSH2 | c.583G>C (p.Gly195Arg) c.385G>C (p.Gly129Arg) n.655G>C n.645G>C | ClinVar dbSNP |
2 | g.47410310G>T | CA346730991 | MSH2 | c.583G>T (p.Gly195Ter) c.385G>T (p.Gly129Ter) n.655G>T n.645G>T | ClinVar dbSNP |
2 | g.47410311G>A | CA346730995 | MSH2 | c.584G>A (p.Gly195Glu) c.386G>A (p.Gly129Glu) n.656G>A n.646G>A | |
2 | g.47410311G>C | CA346730996 | MSH2 | c.584G>C (p.Gly195Ala) c.386G>C (p.Gly129Ala) n.656G>C n.646G>C | |
2 | g.47410311G>T | CA346730998 | MSH2 | c.584G>T (p.Gly195Val) c.386G>T (p.Gly129Val) n.656G>T n.646G>T | |
2 | g.47410312A>C | CA426119557 | MSH2 | c.585A>C (p.Gly195=) c.387A>C (p.Gly129=) n.657A>C n.647A>C | |
2 | g.47410312A>G | CA426119558 | MSH2 | c.585A>G (p.Gly195=) c.387A>G (p.Gly129=) n.657A>G n.647A>G | ClinVar |
2 | g.47410312A>T | CA426119556 | MSH2 | c.585A>T (p.Gly195=) c.387A>T (p.Gly129=) n.657A>T n.647A>T | |
2 | g.47410312_47410313delinsAC | CA2495831304 | MSH2 | c.585_586delinsAC (p.Gly195=) c.387_388delinsAC (p.Gly129=) n.657_658delinsAC n.647_648delinsAC | |
2 | g.47410313C>A | CA346731000 | MSH2 | c.586C>A (p.Pro196Thr) c.388C>A (p.Pro130Thr) n.658C>A n.648C>A | |
2 | g.47410313C= | CA2495831305 | MSH2 | c.586C= (p.Pro196=) c.388C= (p.Pro130=) n.658C= n.648C= | |
2 | g.47410313C>G | CA346731002 | MSH2 | c.586C>G (p.Pro196Ala) c.388C>G (p.Pro130Ala) n.658C>G n.648C>G | |
2 | g.47410313C>T | CA021484 | MSH2 | c.586C>T (p.Pro196Ser) c.388C>T (p.Pro130Ser) n.658C>T n.648C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410314del | CA021490 | MSH2 | c.587del (p.Pro196GlnfsTer18) c.389del (p.Pro130GlnfsTer18) c.389del (p.Pro130GlnfsTer?) n.659del n.649del | ClinVar dbSNP |
2 | g.47410314C>A | CA16610999 | MSH2 | c.587C>A (p.Pro196Gln) c.389C>A (p.Pro130Gln) n.659C>A n.649C>A | ClinVar dbSNP |
2 | g.47410314C= | CA2495831306 | MSH2 | c.587C= (p.Pro196=) c.389C= (p.Pro130=) n.659C= n.649C= | |
2 | g.47410314C>G | CA346731007 | MSH2 | c.587C>G (p.Pro196Arg) c.389C>G (p.Pro130Arg) n.659C>G n.649C>G | ClinVar dbSNP |
2 | g.47410314C>T | CA039398 | MSH2 | c.587C>T (p.Pro196Leu) c.389C>T (p.Pro130Leu) n.659C>T n.649C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410315A= | CA2495831307 | MSH2 | c.588A= (p.Pro196=) c.390A= (p.Pro130=) n.660A= n.650A= | |
2 | g.47410315A>C | CA426119560 | MSH2 | c.588A>C (p.Pro196=) c.390A>C (p.Pro130=) n.660A>C n.650A>C | ClinVar dbSNP |
2 | g.47410315A>G | CA426119561 | MSH2 | c.588A>G (p.Pro196=) c.390A>G (p.Pro130=) n.660A>G n.650A>G | ClinVar dbSNP |
2 | g.47410315A>T | CA426119562 | MSH2 | c.588A>T (p.Pro196=) c.390A>T (p.Pro130=) n.660A>T n.650A>T | dbSNP |
2 | g.47410317del | CA2499216013 | MSH2 | c.590del (p.Lys197ArgfsTer17) c.392del (p.Lys131ArgfsTer17) c.392del (p.Lys131ArgfsTer?) n.662del n.652del | ClinVar dbSNP |
2 | g.47410316A= | CA2495831308 | MSH2 | c.589A= (p.Lys197=) c.391A= (p.Lys131=) n.661A= n.651A= | |
2 | g.47410316A>C | CA039407 | MSH2 | c.589A>C (p.Lys197Gln) c.391A>C (p.Lys131Gln) n.661A>C n.651A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410316A>G | CA348678 | MSH2 | c.589A>G (p.Lys197Glu) c.391A>G (p.Lys131Glu) n.661A>G n.651A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410316A>T | CA346731010 | MSH2 | c.589A>T (p.Lys197Ter) c.391A>T (p.Lys131Ter) n.661A>T n.651A>T | dbSNP |
2 | g.47410317A= | CA2495831309 | MSH2 | c.590A= (p.Lys197=) c.392A= (p.Lys131=) n.662A= n.652A= | |
2 | g.47410317A>C | CA346731016 | MSH2 | c.590A>C (p.Lys197Thr) c.392A>C (p.Lys131Thr) n.662A>C n.652A>C | |
2 | g.47410317A>G | CA346731014 | MSH2 | c.590A>G (p.Lys197Arg) c.392A>G (p.Lys131Arg) n.662A>G n.652A>G | dbSNP |
2 | g.47410317A>T | CA346731012 | MSH2 | c.590A>T (p.Lys197Met) c.392A>T (p.Lys131Met) n.662A>T n.652A>T | dbSNP |
2 | g.47410318G>A | CA10577941 | MSH2 | c.591G>A (p.Lys197=) c.393G>A (p.Lys131=) n.663G>A n.653G>A | ClinVar dbSNP |
2 | g.47410318G>C | CA346731022 | MSH2 | c.591G>C (p.Lys197Asn) c.393G>C (p.Lys131Asn) n.663G>C n.653G>C | dbSNP |
2 | g.47410318G= | CA2495831310 | MSH2 | c.591G= (p.Lys197=) c.393G= (p.Lys131=) n.663G= n.653G= | |
2 | g.47410318G>T | CA346731020 | MSH2 | c.591G>T (p.Lys197Asn) c.393G>T (p.Lys131Asn) n.663G>T n.653G>T | ClinVar |
2 | g.47410319dup | CA021495 | MSH2 | c.592dup (p.Glu198GlyfsTer?) c.394dup (p.Glu132GlyfsTer?) n.664dup n.654dup | ClinVar dbSNP |
2 | g.47410319G>A | CA021501 | MSH2 | c.592G>A (p.Glu198Lys) c.394G>A (p.Glu132Lys) n.664G>A n.654G>A | ClinVar dbSNP |
2 | g.47410319G>C | CA346731026 | MSH2 | c.592G>C (p.Glu198Gln) c.394G>C (p.Glu132Gln) n.664G>C n.654G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410319G= | CA2495831311 | MSH2 | c.592G= (p.Glu198=) c.394G= (p.Glu132=) n.664G= n.654G= | |
2 | g.47410319G>T | CA021507 | MSH2 | c.592G>T (p.Glu198Ter) c.394G>T (p.Glu132Ter) n.664G>T n.654G>T | ClinVar dbSNP |
2 | g.47410320A= | CA2495831312 | MSH2 | c.593A= (p.Glu198=) c.395A= (p.Glu132=) n.665A= n.655A= | |
2 | g.47410320A>C | CA346731027 | MSH2 | c.593A>C (p.Glu198Ala) c.395A>C (p.Glu132Ala) n.665A>C n.655A>C | ClinVar |
2 | g.47410320A>G | CA021513 | MSH2 | c.593A>G (p.Glu198Gly) c.395A>G (p.Glu132Gly) n.665A>G n.655A>G | ClinVar dbSNP |
2 | g.47410320A>T | CA346731029 | MSH2 | c.593A>T (p.Glu198Val) c.395A>T (p.Glu132Val) n.665A>T n.655A>T | dbSNP |
2 | g.47410321A= | CA2495831313 | MSH2 | c.594A= (p.Glu198=) c.396A= (p.Glu132=) n.666A= n.656A= | |
2 | g.47410321A>C | CA346731032 | MSH2 | c.594A>C (p.Glu198Asp) c.396A>C (p.Glu132Asp) n.666A>C n.656A>C | |
2 | g.47410321A>G | CA021518 | MSH2 | c.594A>G (p.Glu198=) c.396A>G (p.Glu132=) n.666A>G n.656A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410321A>T | CA346731034 | MSH2 | c.594A>T (p.Glu198Asp) c.396A>T (p.Glu132Asp) n.666A>T n.656A>T | ClinVar dbSNP |
2 | g.47410321_47410323dup | CA2695200750 | MSH2 | c.594_596dup (p.Cys199Ter) c.396_398dup (p.Cys133Ter) n.666_668dup n.656_658dup | ClinVar |
2 | g.47410322T>A | CA346731035 | MSH2 | c.595T>A (p.Cys199Ser) c.397T>A (p.Cys133Ser) n.667T>A n.657T>A | |
2 | g.47410322T>C | CA021524 | MSH2 | c.595T>C (p.Cys199Arg) c.397T>C (p.Cys133Arg) n.667T>C n.657T>C | ClinVar dbSNP COSMIC |
2 | g.47410322T>G | CA346731038 | MSH2 | c.595T>G (p.Cys199Gly) c.397T>G (p.Cys133Gly) n.667T>G n.657T>G | ClinVar dbSNP |
2 | g.47410322T= | CA2495831314 | MSH2 | c.595T= (p.Cys199=) c.397T= (p.Cys133=) n.667T= n.657T= | |
2 | g.47410325_47410326dup | CA2580611284 | MSH2 | c.598_599dup (p.Leu201PhefsTer14) c.400_401dup (p.Leu135PhefsTer14) c.400_401dup (p.Leu135PhefsTer?) n.670_671dup n.660_661dup | ClinVar |
2 | g.47410325_47410326del | CA2580611283 | MSH2 | c.598_599del (p.Val200PhefsTer?) c.400_401del (p.Val134PhefsTer?) n.670_671del n.660_661del | ClinVar gnomAD v4 |
2 | g.47410323del | CA658760677 | MSH2 | c.596del (p.Cys199LeufsTer15) c.398del (p.Cys133LeufsTer15) c.398del (p.Cys133LeufsTer?) n.668del n.658del | |
2 | g.47410323G>A | CA021530 | MSH2 | c.596G>A (p.Cys199Tyr) c.398G>A (p.Cys133Tyr) n.668G>A n.658G>A | ClinVar dbSNP |
2 | g.47410323G>C | CA346731041 | MSH2 | c.596G>C (p.Cys199Ser) c.398G>C (p.Cys133Ser) n.668G>C n.658G>C | dbSNP |
2 | g.47410323G= | CA2495831315 | MSH2 | c.596G= (p.Cys199=) c.398G= (p.Cys133=) n.668G= n.658G= | |
2 | g.47410323G>T | CA346731042 | MSH2 | c.596G>T (p.Cys199Phe) c.398G>T (p.Cys133Phe) n.668G>T n.658G>T | |
2 | g.47410324T>A | CA346731043 | MSH2 | c.597T>A (p.Cys199Ter) c.399T>A (p.Cys133Ter) n.669T>A n.659T>A | dbSNP |
2 | g.47410324T>C | CA426119568 | MSH2 | c.597T>C (p.Cys199=) c.399T>C (p.Cys133=) n.669T>C n.659T>C | dbSNP |
2 | g.47410324T>G | CA346731044 | MSH2 | c.597T>G (p.Cys199Trp) c.399T>G (p.Cys133Trp) n.669T>G n.659T>G | ClinVar dbSNP |
2 | g.47410324T= | CA2495831316 | MSH2 | c.597T= (p.Cys199=) c.399T= (p.Cys133=) n.669T= n.659T= | |
2 | g.47410325G>A | CA346731049 | MSH2 | c.598G>A (p.Val200Ile) c.400G>A (p.Val134Ile) n.670G>A n.660G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410325G>C | CA346731046 | MSH2 | c.598G>C (p.Val200Leu) c.400G>C (p.Val134Leu) n.670G>C n.660G>C | |
2 | g.47410325G= | CA2495831317 | MSH2 | c.598G= (p.Val200=) c.400G= (p.Val134=) n.670G= n.660G= | |
2 | g.47410325G>T | CA346731047 | MSH2 | c.598G>T (p.Val200Phe) c.400G>T (p.Val134Phe) n.670G>T n.660G>T | ClinVar |
2 | g.47410326T>A | CA021536 | MSH2 | c.599T>A (p.Val200Asp) c.401T>A (p.Val134Asp) n.671T>A n.661T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410326T>C | CA346731052 | MSH2 | c.599T>C (p.Val200Ala) c.401T>C (p.Val134Ala) n.671T>C n.661T>C | ClinVar dbSNP |
2 | g.47410326T>G | CA346731054 | MSH2 | c.599T>G (p.Val200Gly) c.401T>G (p.Val134Gly) n.671T>G n.661T>G | |
2 | g.47410326T= | CA2495831318 | MSH2 | c.599T= (p.Val200=) c.401T= (p.Val134=) n.671T= n.661T= | |
2 | g.47410326_47410327insAT | CA2580067710 | MSH2 | c.599_600insAT (p.Leu201PhefsTer14) c.401_402insAT (p.Leu135PhefsTer14) c.401_402insAT (p.Leu135PhefsTer?) n.671_672insAT n.661_662insAT | ClinVar |
2 | g.47410329dup | CA2586969178 | MSH2 | c.602dup (p.Leu201PhefsTer31) c.404dup (p.Leu135PhefsTer31) c.404dup (p.Leu135PhefsTer?) n.674dup n.664dup | |
2 | g.47410329del | CA2573332618 | MSH2 | c.602del (p.Leu201TyrfsTer13) c.404del (p.Leu135TyrfsTer13) c.404del (p.Leu135TyrfsTer?) n.674del n.664del | |
2 | g.47410327T>A | CA426119572 | MSH2 | c.600T>A (p.Val200=) c.402T>A (p.Val134=) n.672T>A n.662T>A | ClinVar dbSNP |
2 | g.47410327T>C | CA426119571 | MSH2 | c.600T>C (p.Val200=) c.402T>C (p.Val134=) n.672T>C n.662T>C | dbSNP |
2 | g.47410327T>G | CA426119570 | MSH2 | c.600T>G (p.Val200=) c.402T>G (p.Val134=) n.672T>G n.662T>G | |
2 | g.47410328T>A | CA346731055 | MSH2 | c.601T>A (p.Leu201Ile) c.403T>A (p.Leu135Ile) n.673T>A n.663T>A | dbSNP |
2 | g.47410328T>C | CA426119573 | MSH2 | c.601T>C (p.Leu201=) c.403T>C (p.Leu135=) n.673T>C n.663T>C | ClinVar dbSNP |
2 | g.47410328T>G | CA346731057 | MSH2 | c.601T>G (p.Leu201Val) c.403T>G (p.Leu135Val) n.673T>G n.663T>G | |
2 | g.47410329T>A | CA346731059 | MSH2 | c.602T>A (p.Leu201Ter) c.404T>A (p.Leu135Ter) n.674T>A n.664T>A | ClinVar dbSNP |
2 | g.47410329T>C | CA346731061 | MSH2 | c.602T>C (p.Leu201Ser) c.404T>C (p.Leu135Ser) n.674T>C n.664T>C | |
2 | g.47410329T>G | CA346731062 | MSH2 | c.602T>G (p.Leu201Ter) c.404T>G (p.Leu135Ter) n.674T>G n.664T>G | ClinVar |
2 | g.47410329T= | CA2495831319 | MSH2 | c.602T= (p.Leu201=) c.404T= (p.Leu135=) n.674T= n.664T= | |
2 | g.47410330A>C | CA346731066 | MSH2 | c.603A>C (p.Leu201Phe) c.405A>C (p.Leu135Phe) n.675A>C n.665A>C | dbSNP |
2 | g.47410330A>G | CA426119578 | MSH2 | c.603A>G (p.Leu201=) c.405A>G (p.Leu135=) n.675A>G n.665A>G | |
2 | g.47410330A>T | CA346731067 | MSH2 | c.603A>T (p.Leu201Phe) c.405A>T (p.Leu135Phe) n.675A>T n.665A>T | |
2 | g.47410331C>A | CA346731070 | MSH2 | c.604C>A (p.Pro202Thr) c.406C>A (p.Pro136Thr) n.676C>A n.666C>A | |
2 | g.47410331C= | CA2495831320 | MSH2 | c.604C= (p.Pro202=) c.406C= (p.Pro136=) n.676C= n.666C= | |
2 | g.47410331C>G | CA346731072 | MSH2 | c.604C>G (p.Pro202Ala) c.406C>G (p.Pro136Ala) n.676C>G n.666C>G | |
2 | g.47410331C>T | CA346731068 | MSH2 | c.604C>T (p.Pro202Ser) c.406C>T (p.Pro136Ser) n.676C>T n.666C>T | ClinVar dbSNP |
2 | g.47410332C>A | CA346731074 | MSH2 | c.605C>A (p.Pro202His) c.407C>A (p.Pro136His) n.677C>A n.667C>A | dbSNP |
2 | g.47410332C= | CA2495831321 | MSH2 | c.605C= (p.Pro202=) c.407C= (p.Pro136=) n.677C= n.667C= | |
2 | g.47410332C>G | CA16610789 | MSH2 | c.605C>G (p.Pro202Arg) c.407C>G (p.Pro136Arg) n.677C>G n.667C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410332C>T | CA346731077 | MSH2 | c.605C>T (p.Pro202Leu) c.407C>T (p.Pro136Leu) n.677C>T n.667C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410333C>A | CA426119580 | MSH2 | c.606C>A (p.Pro202=) c.408C>A (p.Pro136=) n.678C>A n.668C>A | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47410333C= | CA2495831322 | MSH2 | c.606C= (p.Pro202=) c.408C= (p.Pro136=) n.678C= n.668C= | |
2 | g.47410333C>G | CA021556 | MSH2 | c.606C>G (p.Pro202=) c.408C>G (p.Pro136=) n.678C>G n.668C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410333C>T | CA039445 | MSH2 | c.606C>T (p.Pro202=) c.408C>T (p.Pro136=) n.678C>T n.668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47410334G>A | CA021564 | MSH2 | c.607G>A (p.Gly203Arg) c.409G>A (p.Gly137Arg) n.679G>A n.669G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410334G>C | CA346731082 | MSH2 | c.607G>C (p.Gly203Arg) c.409G>C (p.Gly137Arg) n.679G>C n.669G>C | dbSNP |
2 | g.47410334G= | CA2495831323 | MSH2 | c.607G= (p.Gly203=) c.409G= (p.Gly137=) n.679G= n.669G= | |
2 | g.47410334G>T | CA346731084 | MSH2 | c.607G>T (p.Gly203Ter) c.409G>T (p.Gly137Ter) n.679G>T n.669G>T | ClinVar dbSNP |
2 | g.47410338_47410340del | CA2580611285 | MSH2 | c.611_613del (p.Gly204del) c.413_415del (p.Gly138del) n.683_685del n.673_675del | ClinVar dbSNP |
2 | g.47410335G>A | CA346731085 | MSH2 | c.608G>A (p.Gly203Glu) c.410G>A (p.Gly137Glu) n.680G>A n.670G>A | ClinVar dbSNP |
2 | g.47410335G>C | CA346731086 | MSH2 | c.608G>C (p.Gly203Ala) c.410G>C (p.Gly137Ala) n.680G>C n.670G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410335G= | CA2495831324 | MSH2 | c.608G= (p.Gly203=) c.410G= (p.Gly137=) n.680G= n.670G= | |
2 | g.47410335G>T | CA346731088 | MSH2 | c.608G>T (p.Gly203Val) c.410G>T (p.Gly137Val) n.680G>T n.670G>T | ClinVar dbSNP |
2 | g.47410346_47410347insGGTGAGGAGAGACTG | CA2580611287 | MSH2 | c.619_620insGGTGAGGAGAGACTG (p.Ala207GlyfsTer2) c.421_422insGGTGAGGAGAGACTG (p.Ala141GlyfsTer2) n.691_692insGGTGAGGAGAGACTG n.681_682insGGTGAGGAGAGACTG | |
2 | g.47410335_47410347delinsAGGAA | CA2580067712 | MSH2 | c.608_620delinsAGGAA (p.Gly203GlufsTer26) c.410_422delinsAGGAA (p.Gly137GlufsTer26) n.680_692delinsAGGAA n.670_682delinsAGGAA | ClinVar |
2 | g.47410336A>C | CA426119586 | MSH2 | c.609A>C (p.Gly203=) c.411A>C (p.Gly137=) n.681A>C n.671A>C | ClinVar dbSNP |
2 | g.47410336A>G | CA426119588 | MSH2 | c.609A>G (p.Gly203=) c.411A>G (p.Gly137=) n.681A>G n.671A>G | ClinVar |
2 | g.47410336A>T | CA426119587 | MSH2 | c.609A>T (p.Gly203=) c.411A>T (p.Gly137=) n.681A>T n.671A>T | ClinVar dbSNP |
2 | g.47410337G>A | CA021573 | MSH2 | c.610G>A (p.Gly204Arg) c.412G>A (p.Gly138Arg) n.682G>A n.672G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410337G>C | CA346731092 | MSH2 | c.610G>C (p.Gly204Arg) c.412G>C (p.Gly138Arg) n.682G>C n.672G>C | ClinVar dbSNP |
2 | g.47410337G= | CA2495831325 | MSH2 | c.610G= (p.Gly204=) c.412G= (p.Gly138=) n.682G= n.672G= | |
2 | g.47410337G>T | CA021582 | MSH2 | c.610G>T (p.Gly204Ter) c.412G>T (p.Gly138Ter) n.682G>T n.672G>T | ClinVar dbSNP |
2 | g.47410338G>A | CA039475 | MSH2 | c.611G>A (p.Gly204Glu) c.413G>A (p.Gly138Glu) n.683G>A n.673G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410338G>C | CA346731096 | MSH2 | c.611G>C (p.Gly204Ala) c.413G>C (p.Gly138Ala) n.683G>C n.673G>C | ClinVar dbSNP |
2 | g.47410338G= | CA2495831326 | MSH2 | c.611G= (p.Gly204=) c.413G= (p.Gly138=) n.683G= n.673G= | |
2 | g.47410338G>T | CA346731097 | MSH2 | c.611G>T (p.Gly204Val) c.413G>T (p.Gly138Val) n.683G>T n.673G>T | |
2 | g.47410340_47410343dup | CA645372533 | MSH2 | c.613_616dup (p.Thr206ArgfsTer27) c.415_418dup (p.Thr140ArgfsTer27) c.415_418dup (p.Thr140ArgfsTer?) n.685_688dup n.675_678dup | ClinVar dbSNP |
2 | g.47410342_47410343del | CA2580611288 | MSH2 | c.615_616del (p.Glu205AspfsTer26) c.417_418del (p.Glu139AspfsTer26) c.417_418del (p.Glu139AspfsTer?) n.687_688del n.677_678del | ClinVar |
2 | g.47410339A>C | CA426119590 | MSH2 | c.612A>C (p.Gly204=) c.414A>C (p.Gly138=) n.684A>C n.674A>C | |
2 | g.47410339A>G | CA426119591 | MSH2 | c.612A>G (p.Gly204=) c.414A>G (p.Gly138=) n.684A>G n.674A>G | dbSNP gnomAD v4 |
2 | g.47410339A>T | CA426119593 | MSH2 | c.612A>T (p.Gly204=) c.414A>T (p.Gly138=) n.684A>T n.674A>T | dbSNP |
2 | g.47410339dup | CA2586969182 | MSH2 | c.612dup (p.Glu205ArgfsTer27) c.414dup (p.Glu139ArgfsTer27) c.414dup (p.Glu139ArgfsTer?) n.684dup n.674dup | |
2 | g.47410340del | CA2580067714 | MSH2 | c.613del (p.Glu205ArgfsTer9) c.415del (p.Glu139ArgfsTer9) c.415del (p.Glu139ArgfsTer?) n.685del n.675del | ClinVar |
2 | g.47410340G>A | CA346731099 | MSH2 | c.613G>A (p.Glu205Lys) c.415G>A (p.Glu139Lys) n.685G>A n.675G>A | dbSNP |
2 | g.47410340G>C | CA46678574 | MSH2 | c.613G>C (p.Glu205Gln) c.415G>C (p.Glu139Gln) n.685G>C n.675G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410340G= | CA2495831327 | MSH2 | c.613G= (p.Glu205=) c.415G= (p.Glu139=) n.685G= n.675G= | |
2 | g.47410340G>T | CA021588 | MSH2 | c.613G>T (p.Glu205Ter) c.415G>T (p.Glu139Ter) n.685G>T n.675G>T | ClinVar dbSNP |
2 | g.47410341A>C | CA346731102 | MSH2 | c.614A>C (p.Glu205Ala) c.416A>C (p.Glu139Ala) n.686A>C n.676A>C | |
2 | g.47410341A>G | CA346731105 | MSH2 | c.614A>G (p.Glu205Gly) c.416A>G (p.Glu139Gly) n.686A>G n.676A>G | dbSNP |
2 | g.47410341A>T | CA346731104 | MSH2 | c.614A>T (p.Glu205Val) c.416A>T (p.Glu139Val) n.686A>T n.676A>T | dbSNP |
2 | g.47410342G>A | CA426119597 | MSH2 | c.615G>A (p.Glu205=) c.417G>A (p.Glu139=) n.687G>A n.677G>A | dbSNP |
2 | g.47410342G>C | CA346731106 | MSH2 | c.615G>C (p.Glu205Asp) c.417G>C (p.Glu139Asp) n.687G>C n.677G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410342G= | CA2495831328 | MSH2 | c.615G= (p.Glu205=) c.417G= (p.Glu139=) n.687G= n.677G= | |
2 | g.47410342G>T | CA346731107 | MSH2 | c.615G>T (p.Glu205Asp) c.417G>T (p.Glu139Asp) n.687G>T n.677G>T | ClinVar |
2 | g.47410343A>C | CA346731108 | MSH2 | c.616A>C (p.Thr206Pro) c.418A>C (p.Thr140Pro) n.688A>C n.678A>C | dbSNP |
2 | g.47410343A>G | CA346731110 | MSH2 | c.616A>G (p.Thr206Ala) c.418A>G (p.Thr140Ala) n.688A>G n.678A>G | gnomAD v4 |
2 | g.47410343A>T | CA346731111 | MSH2 | c.616A>T (p.Thr206Ser) c.418A>T (p.Thr140Ser) n.688A>T n.678A>T | ClinVar dbSNP |
2 | g.47410343dup | CA021594 | MSH2 | c.616dup (p.Thr206AsnfsTer26) c.418dup (p.Thr140AsnfsTer26) c.418dup (p.Thr140AsnfsTer?) n.688dup n.678dup | ClinVar dbSNP |
2 | g.47410343_47410344del | CA2695200752 | MSH2 | c.616_617del (p.Thr206CysfsTer25) c.418_419del (p.Thr140CysfsTer25) c.418_419del (p.Thr140=) n.688_689del n.678_679del | ClinVar |
2 | g.47410344C>A | CA346731115 | MSH2 | c.617C>A (p.Thr206Asn) c.419C>A (p.Thr140Asn) n.689C>A n.679C>A | dbSNP |
2 | g.47410344C= | CA2495831329 | MSH2 | c.617C= (p.Thr206=) c.419C= (p.Thr140=) n.689C= n.679C= | |
2 | g.47410344C>G | CA10577942 | MSH2 | c.617C>G (p.Thr206Ser) c.419C>G (p.Thr140Ser) n.689C>G n.679C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410344C>T | CA346731113 | MSH2 | c.617C>T (p.Thr206Ile) c.419C>T (p.Thr140Ile) n.689C>T n.679C>T | ClinVar dbSNP |
2 | g.47410345T>A | CA426119603 | MSH2 | c.618T>A (p.Thr206=) c.420T>A (p.Thr140=) n.690T>A n.680T>A | dbSNP |
2 | g.47410345T>C | CA426119604 | MSH2 | c.618T>C (p.Thr206=) c.420T>C (p.Thr140=) n.690T>C n.680T>C | ClinVar dbSNP |
2 | g.47410345T>G | CA426119602 | MSH2 | c.618T>G (p.Thr206=) c.420T>G (p.Thr140=) n.690T>G n.680T>G | ClinVar dbSNP |
2 | g.47410345T= | CA2495831330 | MSH2 | c.618T= (p.Thr206=) c.420T= (p.Thr140=) n.690T= n.680T= | |
2 | g.47410346G>A | CA46678598 | MSH2 | c.619G>A (p.Ala207Thr) c.421G>A (p.Ala141Thr) c.421G>A n.691G>A n.681G>A | ClinVar dbSNP |
2 | g.47410346G>C | CA346731117 | MSH2 | c.619G>C (p.Ala207Pro) c.421G>C (p.Ala141Pro) c.421G>C n.691G>C n.681G>C | ClinVar dbSNP |
2 | g.47410346G= | CA2495831331 | MSH2 | c.619G= (p.Ala207=) c.421G= (p.Ala141=) c.421G= n.691G= n.681G= | |
2 | g.47410346G>T | CA46678596 | MSH2 | c.619G>T (p.Ala207Ser) c.421G>T (p.Ala141Ser) c.421G>T n.691G>T n.681G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410347C>A | CA346731121 | MSH2 | c.620C>A (p.Ala207Asp) c.422C>A (p.Ala141Asp) n.692C>A n.682C>A | dbSNP COSMIC |
2 | g.47410347C= | CA2495831332 | MSH2 | c.620C= (p.Ala207=) c.422C= (p.Ala141=) n.692C= n.682C= | |
2 | g.47410347C>G | CA346731122 | MSH2 | c.620C>G (p.Ala207Gly) c.422C>G (p.Ala141Gly) n.692C>G n.682C>G | dbSNP |
2 | g.47410347C>T | CA039519 | MSH2 | c.620C>T (p.Ala207Val) c.422C>T (p.Ala141Val) n.692C>T n.682C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410348T>A | CA426119606 | MSH2 | c.621T>A (p.Ala207=) c.423T>A (p.Ala141=) n.693T>A n.683T>A | |
2 | g.47410348T>C | CA426119607 | MSH2 | c.621T>C (p.Ala207=) c.423T>C (p.Ala141=) n.693T>C n.683T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410348T>G | CA426119608 | MSH2 | c.621T>G (p.Ala207=) c.423T>G (p.Ala141=) n.693T>G n.683T>G | |
2 | g.47410348T= | CA2495831333 | MSH2 | c.621T= (p.Ala207=) c.423T= (p.Ala141=) n.693T= n.683T= | |
2 | g.47410348_47410349delinsTG | CA2495831334 | MSH2 | c.621_622delinsTG (p.Ala207=) c.423_424delinsTG (p.Ala141=) n.693_694delinsTG n.683_684delinsTG | |
2 | g.47410349G>A | CA346731124 | MSH2 | c.622G>A (p.Gly208Arg) c.424G>A (p.Gly142Arg) n.694G>A n.684G>A | |
2 | g.47410349G>C | CA346731126 | MSH2 | c.622G>C (p.Gly208Arg) c.424G>C (p.Gly142Arg) n.694G>C n.684G>C | |
2 | g.47410349G>T | CA346731127 | MSH2 | c.622G>T (p.Gly208Ter) c.424G>T (p.Gly142Ter) n.694G>T n.684G>T | ClinVar |
2 | g.47410350del | CA46678609 | MSH2 | c.623del (p.Gly208GlufsTer6) c.425del (p.Gly142GlufsTer6) n.695del n.685del | dbSNP |
2 | g.47410349_47410354dup | CA16610846 | MSH2 | c.622_627dup (p.Asp209_Met210insGlyAsp) c.424_429dup (p.Asp143_Met144insGlyAsp) n.694_699dup n.684_689dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410350G>A | CA346731129 | MSH2 | c.623G>A (p.Gly208Glu) c.425G>A (p.Gly142Glu) n.695G>A n.685G>A | dbSNP |
2 | g.47410350G>C | CA346731131 | MSH2 | c.623G>C (p.Gly208Ala) c.425G>C (p.Gly142Ala) n.695G>C n.685G>C | ClinVar dbSNP |
2 | g.47410350G= | CA2495831335 | MSH2 | c.623G= (p.Gly208=) c.425G= (p.Gly142=) n.695G= n.685G= | |
2 | g.47410350G>T | CA346731133 | MSH2 | c.623G>T (p.Gly208Val) c.425G>T (p.Gly142Val) n.695G>T n.685G>T | dbSNP |
2 | g.47410351A= | CA2495831336 | MSH2 | c.624A= (p.Gly208=) c.426A= (p.Gly142=) n.696A= n.686A= | |
2 | g.47410351A>C | CA021607 | MSH2 | c.624A>C (p.Gly208=) c.426A>C (p.Gly142=) n.696A>C n.686A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410351A>G | CA426119610 | MSH2 | c.624A>G (p.Gly208=) c.426A>G (p.Gly142=) n.696A>G n.686A>G | dbSNP |
2 | g.47410351A>T | CA426119611 | MSH2 | c.624A>T (p.Gly208=) c.426A>T (p.Gly142=) n.696A>T n.686A>T | ClinVar dbSNP |
2 | g.47410352del | CA2497029993 | MSH2 | c.625del (p.Asp209ThrfsTer5) c.427del (p.Asp143ThrfsTer5) n.697del n.687del | |
2 | g.47410352G>A | CA346731135 | MSH2 | c.625G>A (p.Asp209Asn) c.427G>A (p.Asp143Asn) n.697G>A n.687G>A | dbSNP |
2 | g.47410352G>C | CA346731137 | MSH2 | c.625G>C (p.Asp209His) c.427G>C (p.Asp143His) n.697G>C n.687G>C | ClinVar dbSNP |
2 | g.47410352G= | CA2495831337 | MSH2 | c.625G= (p.Asp209=) c.427G= (p.Asp143=) n.697G= n.687G= | |
2 | g.47410352G>T | CA039533 | MSH2 | c.625G>T (p.Asp209Tyr) c.427G>T (p.Asp143Tyr) n.697G>T n.687G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410353A>C | CA346731145 | MSH2 | c.626A>C (p.Asp209Ala) c.428A>C (p.Asp143Ala) n.698A>C n.688A>C | dbSNP |
2 | g.47410353A>G | CA346731141 | MSH2 | c.626A>G (p.Asp209Gly) c.428A>G (p.Asp143Gly) n.698A>G n.688A>G | dbSNP |
2 | g.47410353A>T | CA346731143 | MSH2 | c.626A>T (p.Asp209Val) c.428A>T (p.Asp143Val) n.698A>T n.688A>T | dbSNP |
2 | g.47410354C>A | CA346731146 | MSH2 | c.627C>A (p.Asp209Glu) c.429C>A (p.Asp143Glu) n.699C>A n.689C>A | dbSNP |
2 | g.47410354C= | CA2495831339 | MSH2 | c.627C= (p.Asp209=) c.429C= (p.Asp143=) n.699C= n.689C= | |
2 | g.47410354C>G | CA346731148 | MSH2 | c.627C>G (p.Asp209Glu) c.429C>G (p.Asp143Glu) n.699C>G n.689C>G | ClinVar dbSNP |
2 | g.47410354C>T | CA426119613 | MSH2 | c.627C>T (p.Asp209=) c.429C>T (p.Asp143=) n.699C>T n.689C>T | ClinVar dbSNP |
2 | g.47410354_47410356delinsCAT | CA2495831338 | MSH2 | c.627_629delinsCAT (p.Asp209=) c.429_431delinsCAT (p.Asp143=) n.699_701delinsCAT n.689_691delinsCAT | |
2 | g.47410355A= | CA2495831340 | MSH2 | c.628A= (p.Met210=) c.430A= (p.Met144=) n.700A= n.690A= | |
2 | g.47410355A>C | CA346731150 | MSH2 | c.628A>C (p.Met210Leu) c.430A>C (p.Met144Leu) n.700A>C n.690A>C | ClinVar dbSNP |
2 | g.47410355A>G | CA346731176 | MSH2 | c.628A>G (p.Met210Val) c.430A>G (p.Met144Val) n.700A>G n.690A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410355A>T | CA346731178 | MSH2 | c.628A>T (p.Met210Leu) c.430A>T (p.Met144Leu) n.700A>T n.690A>T | |
2 | g.47410355_47410356del | CA658655699 | MSH2 | c.628_629del (p.Met210GlyfsTer21) c.430_431del (p.Met144GlyfsTer21) n.700_701del n.690_691del | ClinVar dbSNP |
2 | g.47410356del | CA2580067718 | MSH2 | c.629del (p.Met210ArgfsTer4) c.431del (p.Met144ArgfsTer4) n.701del n.691del | ClinVar |
2 | g.47410356T>A | CA346731181 | MSH2 | c.629T>A (p.Met210Lys) c.431T>A (p.Met144Lys) n.701T>A n.691T>A | |
2 | g.47410356T>C | CA346731182 | MSH2 | c.629T>C (p.Met210Thr) c.431T>C (p.Met144Thr) n.701T>C n.691T>C | ClinVar |
2 | g.47410356T>G | CA346731184 | MSH2 | c.629T>G (p.Met210Arg) c.431T>G (p.Met144Arg) n.701T>G n.691T>G | |
2 | g.47410356_47410357delinsTG | CA2495831341 | MSH2 | c.629_630delinsTG (p.Met210=) c.431_432delinsTG (p.Met144=) n.701_702delinsTG n.691_692delinsTG | |
2 | g.47410357G>A | CA039549 | MSH2 | c.630G>A (p.Met210Ile) c.432G>A (p.Met144Ile) n.702G>A n.692G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410357G>C | CA346731187 | MSH2 | c.630G>C (p.Met210Ile) c.432G>C (p.Met144Ile) n.702G>C n.692G>C | dbSNP |
2 | g.47410357G= | CA2495831342 | MSH2 | c.630G= (p.Met210=) c.432G= (p.Met144=) n.702G= n.692G= | |
2 | g.47410357G>T | CA346731189 | MSH2 | c.630G>T (p.Met210Ile) c.432G>T (p.Met144Ile) n.702G>T n.692G>T | |
2 | g.47410360del | CA645369183 | MSH2 | c.633del (p.Lys212AsnfsTer2) c.435del (p.Lys146AsnfsTer2) n.705del n.695del | ClinVar dbSNP |
2 | g.47410358G>A | CA021618 | MSH2 | c.631G>A (p.Gly211Arg) c.433G>A (p.Gly145Arg) n.703G>A n.693G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410358G>C | CA346731192 | MSH2 | c.631G>C (p.Gly211Arg) c.433G>C (p.Gly145Arg) n.703G>C n.693G>C | ClinVar dbSNP |
2 | g.47410358G= | CA2495831343 | MSH2 | c.631G= (p.Gly211=) c.433G= (p.Gly145=) n.703G= n.693G= | |
2 | g.47410358G>T | CA346731190 | MSH2 | c.631G>T (p.Gly211Trp) c.433G>T (p.Gly145Trp) n.703G>T n.693G>T | dbSNP |
2 | g.47410359G>A | CA346731194 | MSH2 | c.632G>A (p.Gly211Glu) c.434G>A (p.Gly145Glu) n.704G>A n.694G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410359G>C | CA346731195 | MSH2 | c.632G>C (p.Gly211Ala) c.434G>C (p.Gly145Ala) n.704G>C n.694G>C | dbSNP |
2 | g.47410359G= | CA2495831344 | MSH2 | c.632G= (p.Gly211=) c.434G= (p.Gly145=) n.704G= n.694G= | |
2 | g.47410359G>T | CA346731196 | MSH2 | c.632G>T (p.Gly211Val) c.434G>T (p.Gly145Val) n.704G>T n.694G>T | dbSNP |
2 | g.47410360G>A | CA426119614 | MSH2 | c.633G>A (p.Gly211=) c.435G>A (p.Gly145=) n.705G>A n.695G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410360G>C | CA426119615 | MSH2 | c.633G>C (p.Gly211=) c.435G>C (p.Gly145=) n.705G>C n.695G>C | ClinVar dbSNP |
2 | g.47410360G= | CA2495831345 | MSH2 | c.633G= (p.Gly211=) c.435G= (p.Gly145=) n.705G= n.695G= | |
2 | g.47410360G>T | CA426119616 | MSH2 | c.633G>T (p.Gly211=) c.435G>T (p.Gly145=) n.705G>T n.695G>T | dbSNP |
2 | g.47410361A>C | CA346731198 | MSH2 | c.634A>C (p.Lys212Gln) c.436A>C (p.Lys146Gln) n.706A>C n.696A>C | |
2 | g.47410361A>G | CA346731200 | MSH2 | c.634A>G (p.Lys212Glu) c.436A>G (p.Lys146Glu) n.706A>G n.696A>G | dbSNP |
2 | g.47410361A>T | CA346731201 | MSH2 | c.634A>T (p.Lys212Ter) c.436A>T (p.Lys146Ter) n.706A>T n.696A>T | ClinVar dbSNP |
2 | g.47410363dup | CA915943884 | MSH2 | c.636dup (p.Leu213ThrfsTer19) c.438dup (p.Leu147ThrfsTer19) n.708dup n.698dup | ClinVar dbSNP |
2 | g.47410362A>C | CA346731202 | MSH2 | c.635A>C (p.Lys212Thr) c.437A>C (p.Lys146Thr) n.707A>C n.697A>C | |
2 | g.47410362A>G | CA346731203 | MSH2 | c.635A>G (p.Lys212Arg) c.437A>G (p.Lys146Arg) n.707A>G n.697A>G | ClinVar |
2 | g.47410362A>T | CA346731204 | MSH2 | c.635A>T (p.Lys212Ile) c.437A>T (p.Lys146Ile) n.707A>T n.697A>T | |
2 | g.47410363A>C | CA346731205 | MSH2 | c.636A>C (p.Lys212Asn) c.438A>C (p.Lys146Asn) n.708A>C n.698A>C | |
2 | g.47410363A>G | CA426119617 | MSH2 | c.636A>G (p.Lys212=) c.438A>G (p.Lys146=) n.708A>G n.698A>G | ClinVar dbSNP |
2 | g.47410363A>T | CA346731206 | MSH2 | c.636A>T (p.Lys212Asn) c.438A>T (p.Lys146Asn) n.708A>T n.698A>T | ClinVar dbSNP |
2 | g.47410364C>A | CA346731207 | MSH2 | c.637C>A (p.Leu213Met) c.439C>A (p.Leu147Met) n.709C>A n.699C>A | ClinVar dbSNP |
2 | g.47410364C>G | CA346731208 | MSH2 | c.637C>G (p.Leu213Val) c.439C>G (p.Leu147Val) n.709C>G n.699C>G | dbSNP |
2 | g.47410364C>T | CA426119618 | MSH2 | c.637C>T (p.Leu213=) c.439C>T (p.Leu147=) n.709C>T n.699C>T | ClinVar dbSNP |
2 | g.47410364_47410366delinsCTG | CA2495831346 | MSH2 | c.637_639delinsCTG (p.Leu213=) c.439_441delinsCTG (p.Leu147=) n.709_711delinsCTG n.699_701delinsCTG | |
2 | g.47410365del | CA2580067722 | MSH2 | c.638del (p.Leu213ArgfsTer4) c.440del (p.Leu147ArgfsTer4) n.710del n.700del | ClinVar |
2 | g.47410365T>A | CA346731211 | MSH2 | c.638T>A (p.Leu213Gln) c.440T>A (p.Leu147Gln) n.710T>A n.700T>A | ClinVar dbSNP |
2 | g.47410365T>C | CA346731209 | MSH2 | c.638T>C (p.Leu213Pro) c.440T>C (p.Leu147Pro) n.710T>C n.700T>C | dbSNP |
2 | g.47410365T>G | CA346731210 | MSH2 | c.638T>G (p.Leu213Arg) c.440T>G (p.Leu147Arg) n.710T>G n.700T>G | ClinVar dbSNP |
2 | g.47410365T= | CA2495831347 | MSH2 | c.638T= (p.Leu213=) c.440T= (p.Leu147=) n.710T= n.700T= | |
2 | g.47410365dup | CA658760699 | MSH2 | c.638dup (p.Arg214GlufsTer18) c.440dup (p.Arg148GlufsTer18) n.710dup n.700dup | |
2 | g.47410365_47410366del | CA021626 | MSH2 | c.638_639del (p.Leu213GlnfsTer18) c.440_441del (p.Leu147GlnfsTer18) n.710_711del n.700_701del | ClinVar dbSNP |
2 | g.47410366G>A | CA16610769 | MSH2 | c.639G>A (p.Leu213=) c.441G>A (p.Leu147=) n.711G>A n.701G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410366G>C | CA039571 | MSH2 | c.639G>C (p.Leu213=) c.441G>C (p.Leu147=) n.711G>C n.701G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410366G= | CA2495831349 | MSH2 | c.639G= (p.Leu213=) c.441G= (p.Leu147=) n.711G= n.701G= | |
2 | g.47410366G>T | CA426119619 | MSH2 | c.639G>T (p.Leu213=) c.441G>T (p.Leu147=) n.711G>T n.701G>T | |
2 | g.47410366_47410370delinsGAGAC | CA2495831348 | MSH2 | c.639_643delinsGAGAC (p.Leu213=) c.441_445delinsGAGAC (p.Leu147=) n.711_715delinsGAGAC n.701_705delinsGAGAC | |
2 | g.47410367_47410373del | CA2580612943 | MSH2 | c.640_645+1del c.442_447+1del n.712_717+1del n.702_707+1del | ClinVar |
2 | g.47410367A= | CA2495831350 | MSH2 | c.640A= (p.Arg214=) c.442A= (p.Arg148=) n.712A= n.702A= | |
2 | g.47410367A>C | CA426119620 | MSH2 | c.640A>C (p.Arg214=) c.442A>C (p.Arg148=) n.712A>C n.702A>C | |
2 | g.47410367A>G | CA346731212 | MSH2 | c.640A>G (p.Arg214Gly) c.442A>G (p.Arg148Gly) n.712A>G n.702A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410367A>T | CA346731213 | MSH2 | c.640A>T (p.Arg214Ter) c.442A>T (p.Arg148Ter) n.712A>T n.702A>T | dbSNP |
2 | g.47410369_47410372del | CA021633 | MSH2 | c.642_645del (p.Gln215Ter) c.444_447del (p.Gln149Ter) n.714_717del n.704_707del | ClinVar dbSNP |
2 | g.47410368G>A | CA346731214 | MSH2 | c.641G>A (p.Arg214Lys) c.443G>A (p.Arg148Lys) n.713G>A n.703G>A | ClinVar dbSNP |
2 | g.47410368G>C | CA346731215 | MSH2 | c.641G>C (p.Arg214Thr) c.443G>C (p.Arg148Thr) n.713G>C n.703G>C | dbSNP |
2 | g.47410368G= | CA2495831351 | MSH2 | c.641G= (p.Arg214=) c.443G= (p.Arg148=) n.713G= n.703G= | |
2 | g.47410368G>T | CA039588 | MSH2 | c.641G>T (p.Arg214Ile) c.443G>T (p.Arg148Ile) n.713G>T n.703G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47410368_47410370delinsGAC | CA2495831352 | MSH2 | c.641_643delinsGAC (p.Arg214=) c.443_445delinsGAC (p.Arg148=) n.713_715delinsGAC n.703_705delinsGAC | |
2 | g.47410368_47410369insCAAATTGAGTCTAGTGATAA | CA2499216014 | MSH2 | c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214SerfsTer10) c.443_444insCAAATTGAGTCTAGTGATAA (p.Arg148SerfsTer10) n.713_714insCAAATTGAGTCTAGTGATAA n.703_704insCAAATTGAGTCTAGTGATAA | ClinVar dbSNP |
2 | g.47410369A= | CA2495831353 | MSH2 | c.642A= (p.Arg214=) c.444A= (p.Arg148=) n.714A= n.704A= | |
2 | g.47410369A>C | CA346731216 | MSH2 | c.642A>C (p.Arg214Ser) c.444A>C (p.Arg148Ser) n.714A>C n.704A>C | dbSNP |
2 | g.47410369A>G | CA039604 | MSH2 | c.642A>G (p.Arg214=) c.444A>G (p.Arg148=) n.714A>G n.704A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410369A>T | CA346731217 | MSH2 | c.642A>T (p.Arg214Ser) c.444A>T (p.Arg148Ser) n.714A>T n.704A>T | dbSNP |
2 | g.47410369_47410370delinsAC | CA2495831354 | MSH2 | c.642_643delinsAC (p.Arg214=) c.444_445delinsAC (p.Arg148=) n.714_715delinsAC n.704_705delinsAC | |
2 | g.47410370_47410371del | CA915943885 | MSH2 | c.643_644del (p.Gln215AspfsTer16) c.445_446del (p.Gln149AspfsTer16) n.715_716del n.705_706del | ClinVar dbSNP |
2 | g.47410369_47410375delinsCAAATTG | CA2695200754 | MSH2 | c.642_645+3delinsCAAATTG c.444_447+3delinsCAAATTG n.714_717+3delinsCAAATTG n.704_707+3delinsCAAATTG | ClinVar |
2 | g.47410370del | CA891842931 | MSH2 | c.643del (p.Gln215ArgfsTer2) c.445del (p.Gln149ArgfsTer2) n.715del n.705del | ClinVar dbSNP |
2 | g.47410370C>A | CA346731218 | MSH2 | c.643C>A (p.Gln215Lys) c.445C>A (p.Gln149Lys) n.715C>A n.705C>A | dbSNP |
2 | g.47410370C= | CA2495831355 | MSH2 | c.643C= (p.Gln215=) c.445C= (p.Gln149=) n.715C= n.705C= | |
2 | g.47410370C>G | CA346731219 | MSH2 | c.643C>G (p.Gln215Glu) c.445C>G (p.Gln149Glu) n.715C>G n.705C>G | dbSNP |
2 | g.47410370C>T | CA021638 | MSH2 | c.643C>T (p.Gln215Ter) c.445C>T (p.Gln149Ter) n.715C>T n.705C>T | ClinVar dbSNP COSMIC |
2 | g.47410370_47410371delinsCA | CA2495831356 | MSH2 | c.643_644delinsCA (p.Gln215=) c.445_446delinsCA (p.Gln149=) n.715_716delinsCA n.705_706delinsCA | |
2 | g.47410371del | CA891842932 | MSH2 | c.644del (p.Gln215ArgfsTer2) c.446del (p.Gln149ArgfsTer2) n.716del n.706del | ClinVar dbSNP |
2 | g.47410371A>C | CA346731220 | MSH2 | c.644A>C (p.Gln215Pro) c.446A>C (p.Gln149Pro) n.716A>C n.706A>C | |
2 | g.47410371A>G | CA346731222 | MSH2 | c.644A>G (p.Gln215Arg) c.446A>G (p.Gln149Arg) n.716A>G n.706A>G | dbSNP gnomAD v4 |
2 | g.47410371A>T | CA346731221 | MSH2 | c.644A>T (p.Gln215Leu) c.446A>T (p.Gln149Leu) n.716A>T n.706A>T | dbSNP |
2 | g.47410372G>A | CA426119621 | MSH2 | c.645G>A (p.Gln215=) c.447G>A (p.Gln149=) n.717G>A n.707G>A | dbSNP gnomAD v4 |
2 | g.47410372G>C | CA346731223 | MSH2 | c.645G>C (p.Gln215His) c.447G>C (p.Gln149His) n.717G>C n.707G>C | dbSNP gnomAD v4 |
2 | g.47410372G= | CA2495831357 | MSH2 | c.645G= (p.Gln215=) c.447G= (p.Gln149=) n.717G= n.707G= | |
2 | g.47410372G>T | CA346731224 | MSH2 | c.645G>T (p.Gln215His) c.447G>T (p.Gln149His) n.717G>T n.707G>T | gnomAD v4 |
2 | g.47410373G>A | CA021643 | MSH2 | c.645+1G>A (n.645+1G>A) c.447+1G>A (n.447+1G>A) n.717+1G>A n.707+1G>A | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47410373G>C | CA346731225 | MSH2 | c.645+1G>C (n.645+1G>C) c.447+1G>C (n.447+1G>C) n.717+1G>C n.707+1G>C | ClinVar dbSNP |
2 | g.47410373G= | CA2495831358 | MSH2 | c.645+1G= (n.645+1G=) c.447+1G= (n.447+1G=) n.717+1G= n.707+1G= | |
2 | g.47410373G>T | CA021649 | MSH2 | c.645+1G>T (n.645+1G>T) c.447+1G>T (n.447+1G>T) n.717+1G>T n.707+1G>T | ClinVar dbSNP |
2 | g.47410373_47410382delinsTTTAGTGATAGATAG | CA2586969185 | MSH2 | c.645+1_645+10delinsTTTAGTGATAGATAG (n.645+1_645+10delinsTTTAGTGATAGATAG) c.447+1_447+10delinsTTTAGTGATAGATAG (n.447+1_447+10delinsTTTAGTGATAGATAG) n.717+1_717+10delinsTTTAGTGATAGATAG n.707+1_707+10delinsTTTAGTGATAGATAG | |
2 | g.47410374T>A | CA346731227 | MSH2 | c.645+2T>A (n.645+2T>A) c.447+2T>A (n.447+2T>A) n.717+2T>A n.707+2T>A | ClinVar dbSNP |
2 | g.47410374T>C | CA346731228 | MSH2 | c.645+2T>C (n.645+2T>C) c.447+2T>C (n.447+2T>C) n.717+2T>C n.707+2T>C | ClinVar dbSNP |
2 | g.47410374T>G | CA10577943 | MSH2 | c.645+2T>G (n.645+2T>G) c.447+2T>G (n.447+2T>G) n.717+2T>G n.707+2T>G | ClinVar dbSNP |
2 | g.47410374T= | CA2495831359 | MSH2 | c.645+2T= (n.645+2T=) c.447+2T= (n.447+2T=) n.717+2T= n.707+2T= | |
2 | g.47410374dup | CA2580067733 | MSH2 | c.645+2dup (n.645+2dup) c.447+2dup (n.447+2dup) n.717+2dup n.707+2dup | ClinVar |
2 | g.47410375A= | CA2495831360 | MSH2 | c.645+3A= (n.645+3A=) c.447+3A= (n.447+3A=) n.717+3A= n.707+3A= | |
2 | g.47410375A>G | CA021655 | MSH2 | c.645+3A>G (n.645+3A>G) c.447+3A>G (n.447+3A>G) n.717+3A>G n.707+3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410375A>T | CA2699080518 | MSH2 | c.645+3A>T (n.645+3A>T) c.447+3A>T (n.447+3A>T) n.717+3A>T n.707+3A>T | dbSNP |
2 | g.47410376A= | CA2495831361 | MSH2 | c.645+4A= (n.645+4A=) c.447+4A= (n.447+4A=) n.717+4A= n.707+4A= | |
2 | g.47410376A>G | CA915943886 | MSH2 | c.645+4A>G (n.645+4A>G) c.447+4A>G (n.447+4A>G) n.717+4A>G n.707+4A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410377G>A | CA2699279538 | MSH2 | c.645+5G>A (n.645+5G>A) c.447+5G>A (n.447+5G>A) n.717+5G>A n.707+5G>A | dbSNP |
2 | g.47410377G>C | CA2699279539 | MSH2 | c.645+5G>C (n.645+5G>C) c.447+5G>C (n.447+5G>C) n.717+5G>C n.707+5G>C | dbSNP |
2 | g.47410377G>T | CA2699279542 | MSH2 | c.645+5G>T (n.645+5G>T) c.447+5G>T (n.447+5G>T) n.717+5G>T n.707+5G>T | dbSNP |
2 | g.47410378C= | CA2495831362 | MSH2 | c.645+6C= (n.645+6C=) c.447+6C= (n.447+6C=) n.717+6C= n.707+6C= | |
2 | g.47410378C>G | CA2658946063 | MSH2 | c.645+6C>G (n.645+6C>G) c.447+6C>G (n.447+6C>G) n.717+6C>G n.707+6C>G | gnomAD v4 |
2 | g.47410378C>T | CA532704954 | MSH2 | c.645+6C>T (n.645+6C>T) c.447+6C>T (n.447+6C>T) n.717+6C>T n.707+6C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410379A= | CA2495831363 | MSH2 | c.645+7A= (n.645+7A=) c.447+7A= (n.447+7A=) n.717+7A= n.707+7A= | |
2 | g.47410379A>G | CA532704955 | MSH2 | c.645+7A>G (n.645+7A>G) c.447+7A>G (n.447+7A>G) n.717+7A>G n.707+7A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410380A= | CA2495831364 | MSH2 | c.645+8A= (n.645+8A=) c.447+8A= (n.447+8A=) n.717+8A= n.707+8A= | |
2 | g.47410380A>C | CA2658946064 | MSH2 | c.645+8A>C (n.645+8A>C) c.447+8A>C (n.447+8A>C) n.717+8A>C n.707+8A>C | gnomAD v4 |
2 | g.47410380A>G | CA039780 | MSH2 | c.645+8A>G (n.645+8A>G) c.447+8A>G (n.447+8A>G) n.717+8A>G n.707+8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410380A>T | CA16604258 | MSH2 | c.645+8A>T (n.645+8A>T) c.447+8A>T (n.447+8A>T) n.717+8A>T n.707+8A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410386_47410433del | CA2573134695 | MSH2 | c.645+14_645+61del (n.645+14_645+61del) c.447+14_447+61del (n.447+14_447+61del) n.717+14_717+61del n.707+14_707+61del | ClinVar dbSNP |
2 | g.47410381A= | CA2495831365 | MSH2 | c.645+9A= (n.645+9A=) c.447+9A= (n.447+9A=) n.717+9A= n.707+9A= | |
2 | g.47410381A>C | CA2699138769 | MSH2 | c.645+9A>C (n.645+9A>C) c.447+9A>C (n.447+9A>C) n.717+9A>C n.707+9A>C | dbSNP |
2 | g.47410381A>G | CA1139656920 | MSH2 | c.645+9A>G (n.645+9A>G) c.447+9A>G (n.447+9A>G) n.717+9A>G n.707+9A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410381A>T | CA2699138768 | MSH2 | c.645+9A>T (n.645+9A>T) c.447+9A>T (n.447+9A>T) n.717+9A>T n.707+9A>T | dbSNP |
2 | g.47410382T>A | CA2699279670 | MSH2 | c.645+10T>A (n.645+10T>A) c.447+10T>A (n.447+10T>A) n.717+10T>A n.707+10T>A | dbSNP |
2 | g.47410382T>G | CA2699279636 | MSH2 | c.645+10T>G (n.645+10T>G) c.447+10T>G (n.447+10T>G) n.717+10T>G n.707+10T>G | dbSNP |
2 | g.47410383T>A | CA2699097845 | MSH2 | c.645+11T>A (n.645+11T>A) c.447+11T>A (n.447+11T>A) n.717+11T>A n.707+11T>A | dbSNP |
2 | g.47410383T>G | CA16604517 | MSH2 | c.645+11T>G (n.645+11T>G) c.447+11T>G (n.447+11T>G) n.717+11T>G n.707+11T>G | ClinVar dbSNP |
2 | g.47410383T= | CA2495831366 | MSH2 | c.645+11T= (n.645+11T=) c.447+11T= (n.447+11T=) n.717+11T= n.707+11T= |