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.47409567_47410219delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | CA2495830775 | MSH2 | c.367-527_492delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG c.169-527_294delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.439-527_564delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.429-527_554delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | |
2 | g.47409569_47410220del | CA658795727 | MSH2 | c.367-525_493del c.169-525_295del n.439-525_565del n.429-525_555del | ClinVar dbSNP |
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.47410202_47410208del | CA2580067664 | MSH2 | c.475_481del (p.Arg159LeufsTer13) c.277_283del (p.Arg93LeufsTer13) n.547_553del n.537_543del | ClinVar |
2 | g.47410205_47410206del | CA2499216011 | MSH2 | c.478_479del (p.Gln160GlyfsTer17) c.280_281del (p.Gln94GlyfsTer17) n.550_551del n.540_541del | ClinVar dbSNP |
2 | g.47410205C>A | CA346730592 | MSH2 | c.478C>A (p.Gln160Lys) c.280C>A (p.Gln94Lys) n.550C>A n.540C>A | ClinVar dbSNP |
2 | g.47410205C= | CA2495831212 | MSH2 | c.478C= (p.Gln160=) c.280C= (p.Gln94=) n.550C= n.540C= | |
2 | g.47410205C>G | CA346730594 | MSH2 | c.478C>G (p.Gln160Glu) c.280C>G (p.Gln94Glu) n.550C>G n.540C>G | ClinVar dbSNP |
2 | g.47410205C>T | CA021192 | MSH2 | c.478C>T (p.Gln160Ter) c.280C>T (p.Gln94Ter) n.550C>T n.540C>T | ClinVar dbSNP |
2 | g.47410206A= | CA2495831213 | MSH2 | c.479A= (p.Gln160=) c.281A= (p.Gln94=) n.551A= n.541A= | |
2 | g.47410206A>C | CA346730596 | MSH2 | c.479A>C (p.Gln160Pro) c.281A>C (p.Gln94Pro) n.551A>C n.541A>C | ClinVar dbSNP |
2 | g.47410206A>G | CA346730598 | MSH2 | c.479A>G (p.Gln160Arg) c.281A>G (p.Gln94Arg) n.551A>G n.541A>G | ClinVar dbSNP |
2 | g.47410206A>T | CA346730600 | MSH2 | c.479A>T (p.Gln160Leu) c.281A>T (p.Gln94Leu) n.551A>T n.541A>T | ClinVar dbSNP |
2 | g.47410207G>A | CA426119515 | MSH2 | c.480G>A (p.Gln160=) c.282G>A (p.Gln94=) n.552G>A n.542G>A | dbSNP |
2 | g.47410207G>C | CA346730602 | MSH2 | c.480G>C (p.Gln160His) c.282G>C (p.Gln94His) n.552G>C n.542G>C | dbSNP |
2 | g.47410207G= | CA2495831214 | MSH2 | c.480G= (p.Gln160=) c.282G= (p.Gln94=) n.552G= n.542G= | |
2 | g.47410207G>T | CA346730604 | MSH2 | c.480G>T (p.Gln160His) c.282G>T (p.Gln94His) n.552G>T n.542G>T | ClinVar dbSNP |
2 | g.47410208G>A | CA021193 | MSH2 | c.481G>A (p.Val161Ile) c.283G>A (p.Val95Ile) n.553G>A n.543G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410208G>C | CA346730606 | MSH2 | c.481G>C (p.Val161Leu) c.283G>C (p.Val95Leu) n.553G>C n.543G>C | ClinVar dbSNP |
2 | g.47410208G= | CA2495831215 | MSH2 | c.481G= (p.Val161=) c.283G= (p.Val95=) n.553G= n.543G= | |
2 | g.47410208G>T | CA346730607 | MSH2 | c.481G>T (p.Val161Phe) c.283G>T (p.Val95Phe) n.553G>T n.543G>T | ClinVar dbSNP COSMIC |
2 | g.47410209T>A | CA021196 | MSH2 | c.482T>A (p.Val161Asp) c.284T>A (p.Val95Asp) n.554T>A n.544T>A | ClinVar dbSNP |
2 | g.47410209T>C | CA346730609 | MSH2 | c.482T>C (p.Val161Ala) c.284T>C (p.Val95Ala) n.554T>C n.544T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410209T>G | CA346730611 | MSH2 | c.482T>G (p.Val161Gly) c.284T>G (p.Val95Gly) n.554T>G n.544T>G | ClinVar dbSNP |
2 | g.47410209T= | CA2495831216 | MSH2 | c.482T= (p.Val161=) c.284T= (p.Val95=) n.554T= n.544T= | |
2 | g.47410210del | CA2580067668 | MSH2 | c.483del (p.Gly162GlufsTer12) c.285del (p.Gly96GlufsTer12) n.555del n.545del | ClinVar |
2 | g.47410210T>A | CA426119516 | MSH2 | c.483T>A (p.Val161=) c.285T>A (p.Val95=) n.555T>A n.545T>A | ClinVar |
2 | g.47410210T>C | CA426119517 | MSH2 | c.483T>C (p.Val161=) c.285T>C (p.Val95=) n.555T>C n.545T>C | |
2 | g.47410210T>G | CA46677897 | MSH2 | c.483T>G (p.Val161=) c.285T>G (p.Val95=) n.555T>G n.545T>G | dbSNP |
2 | g.47410210T= | CA2495831217 | MSH2 | c.483T= (p.Val161=) c.285T= (p.Val95=) n.555T= n.545T= | |
2 | g.47410211G>A | CA021199 | MSH2 | c.484G>A (p.Gly162Arg) c.286G>A (p.Gly96Arg) n.556G>A n.546G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410211G>C | CA346730616 | MSH2 | c.484G>C (p.Gly162Arg) c.286G>C (p.Gly96Arg) n.556G>C n.546G>C | dbSNP |
2 | g.47410211G= | CA2495831218 | MSH2 | c.484G= (p.Gly162=) c.286G= (p.Gly96=) n.556G= n.546G= | |
2 | g.47410211G>T | CA346730617 | MSH2 | c.484G>T (p.Gly162Ter) c.286G>T (p.Gly96Ter) n.556G>T n.546G>T | ClinVar dbSNP |
2 | g.47410212_47410226del | CA1139771882 | MSH2 | c.485_499del (p.Gly162_Val166del) c.287_301del (p.Gly96_Val100del) n.557_571del n.547_561del | |
2 | g.47410212G>A | CA346730618 | MSH2 | c.485G>A (p.Gly162Glu) c.287G>A (p.Gly96Glu) n.557G>A n.547G>A | dbSNP |
2 | g.47410212G>C | CA021202 | MSH2 | c.485G>C (p.Gly162Ala) c.287G>C (p.Gly96Ala) n.557G>C n.547G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410212G= | CA2495831219 | MSH2 | c.485G= (p.Gly162=) c.287G= (p.Gly96=) n.557G= n.547G= | |
2 | g.47410212G>T | CA346730621 | MSH2 | c.485G>T (p.Gly162Val) c.287G>T (p.Gly96Val) n.557G>T n.547G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410213_47410214del | CA2695200739 | MSH2 | c.486_487del (p.Val163TrpfsTer14) c.288_289del (p.Val97TrpfsTer14) n.558_559del n.548_549del | ClinVar |
2 | g.47410213A= | CA2495831220 | MSH2 | c.486A= (p.Gly162=) c.288A= (p.Gly96=) n.558A= n.548A= | |
2 | g.47410213A>C | CA426119518 | MSH2 | c.486A>C (p.Gly162=) c.288A>C (p.Gly96=) n.558A>C n.548A>C | |
2 | g.47410213A>G | CA426119519 | MSH2 | c.486A>G (p.Gly162=) c.288A>G (p.Gly96=) n.558A>G n.548A>G | ClinVar dbSNP |
2 | g.47410213A>T | CA426119520 | MSH2 | c.486A>T (p.Gly162=) c.288A>T (p.Gly96=) n.558A>T n.548A>T | dbSNP |
2 | g.47410213dup | CA2658946062 | MSH2 | c.486dup (p.Val163SerfsTer15) c.288dup (p.Val97SerfsTer15) n.558dup n.548dup | gnomAD v4 |
2 | g.47410214G>A | CA346730622 | MSH2 | c.487G>A (p.Val163Ile) c.289G>A (p.Val97Ile) n.559G>A n.549G>A | ClinVar dbSNP |
2 | g.47410214G>C | CA346730624 | MSH2 | c.487G>C (p.Val163Leu) c.289G>C (p.Val97Leu) n.559G>C n.549G>C | dbSNP |
2 | g.47410214G= | CA2495831221 | MSH2 | c.487G= (p.Val163=) c.289G= (p.Val97=) n.559G= n.549G= | |
2 | g.47410214G>T | CA346730627 | MSH2 | c.487G>T (p.Val163Phe) c.289G>T (p.Val97Phe) n.559G>T n.549G>T | ClinVar |
2 | g.47410215T>A | CA021206 | MSH2 | c.488T>A (p.Val163Asp) c.290T>A (p.Val97Asp) n.560T>A n.550T>A | ClinVar dbSNP |
2 | g.47410215T>C | CA10577939 | MSH2 | c.488T>C (p.Val163Ala) c.290T>C (p.Val97Ala) n.560T>C n.550T>C | ClinVar dbSNP |
2 | g.47410215T>G | CA021209 | MSH2 | c.488T>G (p.Val163Gly) c.290T>G (p.Val97Gly) n.560T>G n.550T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410215T= | CA2495831222 | MSH2 | c.488T= (p.Val163=) c.290T= (p.Val97=) n.560T= n.550T= | |
2 | g.47410216T>A | CA426119521 | MSH2 | c.489T>A (p.Val163=) c.291T>A (p.Val97=) n.561T>A n.551T>A | |
2 | g.47410216T>C | CA426119523 | MSH2 | c.489T>C (p.Val163=) c.291T>C (p.Val97=) n.561T>C n.551T>C | |
2 | g.47410216T>G | CA426119522 | MSH2 | c.489T>G (p.Val163=) c.291T>G (p.Val97=) n.561T>G n.551T>G | |
2 | g.47410218_47410223del | CA2586969169 | MSH2 | c.491_496del (p.Gly164_Tyr165del) c.293_298del (p.Gly98_Tyr99del) n.563_568del n.553_558del | |
2 | g.47410217G>A | CA021212 | MSH2 | c.490G>A (p.Gly164Arg) c.292G>A (p.Gly98Arg) n.562G>A n.552G>A | ClinVar dbSNP COSMIC |
2 | g.47410217G>C | CA346730633 | MSH2 | c.490G>C (p.Gly164Arg) c.292G>C (p.Gly98Arg) n.562G>C n.552G>C | ClinVar dbSNP |
2 | g.47410217G= | CA2495831223 | MSH2 | c.490G= (p.Gly164=) c.292G= (p.Gly98=) n.562G= n.552G= | |
2 | g.47410217G>T | CA021215 | MSH2 | c.490G>T (p.Gly164Trp) c.292G>T (p.Gly98Trp) n.562G>T n.552G>T | ClinVar dbSNP |
2 | g.47410219del | CA2580067670 | MSH2 | c.492del (p.Tyr165MetfsTer9) c.294del (p.Tyr99MetfsTer9) n.564del n.554del | ClinVar |
2 | g.47410217_47410235del | CA645531411 | MSH2 | c.490_508del (p.Gly164ArgfsTer4) c.292_310del (p.Gly98ArgfsTer4) n.562_580del n.552_570del | COSMIC |
2 | g.47410217_47410218insA | CA2573134694 | MSH2 | c.490_491insA (p.Gly164GlufsTer14) c.292_293insA (p.Gly98GlufsTer14) n.562_563insA n.552_553insA | dbSNP |
2 | g.47410218G>A | CA021218 | MSH2 | c.491G>A (p.Gly164Glu) c.293G>A (p.Gly98Glu) n.563G>A n.553G>A | ClinVar dbSNP |
2 | g.47410218G>C | CA346730638 | MSH2 | c.491G>C (p.Gly164Ala) c.293G>C (p.Gly98Ala) n.563G>C n.553G>C | ClinVar dbSNP |
2 | g.47410218G= | CA2495831224 | MSH2 | c.491G= (p.Gly164=) c.293G= (p.Gly98=) n.563G= n.553G= | |
2 | g.47410218G>T | CA346730636 | MSH2 | c.491G>T (p.Gly164Val) c.293G>T (p.Gly98Val) n.563G>T n.553G>T | dbSNP |
2 | g.47410218delinsAT | CA2580067671 | MSH2 | c.491delinsAT (p.Gly164AspfsTer14) c.293delinsAT (p.Gly98AspfsTer14) n.563delinsAT n.553delinsAT | ClinVar |
2 | g.47410218_47410220delinsGGT | CA2495831225 | MSH2 | c.491_493delinsGGT (p.Gly164=) c.293_295delinsGGT (p.Gly98=) n.563_565delinsGGT n.553_555delinsGGT | |
2 | g.47410219_47410223del | CA2573051256 | MSH2 | c.492_496del (p.Tyr165GlyfsTer11) c.294_298del (p.Tyr99GlyfsTer11) n.564_568del n.554_558del | |
2 | g.47410220_47410226del | CA2695200740 | MSH2 | c.493_499del (p.Tyr165IlefsTer7) c.295_301del (p.Tyr99IlefsTer7) n.565_571del n.555_561del | ClinVar |
2 | g.47410219G>A | CA426119524 | MSH2 | c.492G>A (p.Gly164=) c.294G>A (p.Gly98=) n.564G>A n.554G>A | ClinVar dbSNP |
2 | g.47410219G>C | CA426119525 | MSH2 | c.492G>C (p.Gly164=) c.294G>C (p.Gly98=) n.564G>C n.554G>C | ClinVar dbSNP |
2 | g.47410219G>T | CA426119526 | MSH2 | c.492G>T (p.Gly164=) c.294G>T (p.Gly98=) n.564G>T n.554G>T | dbSNP |
2 | g.47410219_47410220del | CA1139656946 | MSH2 | c.492_493del (p.Tyr165CysfsTer12) c.294_295del (p.Tyr99CysfsTer12) n.564_565del n.554_555del | ClinVar dbSNP |
2 | g.47410220T>A | CA346730640 | MSH2 | c.493T>A (p.Tyr165Asn) c.295T>A (p.Tyr99Asn) n.565T>A n.555T>A | dbSNP |
2 | g.47410220T>C | CA346730643 | MSH2 | c.493T>C (p.Tyr165His) c.295T>C (p.Tyr99His) n.565T>C n.555T>C | |
2 | g.47410220T>G | CA021222 | MSH2 | c.493T>G (p.Tyr165Asp) c.295T>G (p.Tyr99Asp) n.565T>G n.555T>G | ClinVar dbSNP |
2 | g.47410220T= | CA2495831226 | MSH2 | c.493T= (p.Tyr165=) c.295T= (p.Tyr99=) n.565T= n.555T= | |
2 | g.47410221del | CA2580067675 | MSH2 | c.494del (p.Tyr165LeufsTer9) c.296del (p.Tyr99LeufsTer9) n.566del n.556del | ClinVar |
2 | g.47410221A= | CA2495831227 | MSH2 | c.494A= (p.Tyr165=) c.296A= (p.Tyr99=) n.566A= n.556A= | |
2 | g.47410221A>C | CA346730645 | MSH2 | c.494A>C (p.Tyr165Ser) c.296A>C (p.Tyr99Ser) n.566A>C n.556A>C | |
2 | g.47410221A>G | CA346730649 | MSH2 | c.494A>G (p.Tyr165Cys) c.296A>G (p.Tyr99Cys) n.566A>G n.556A>G | ClinVar dbSNP |
2 | g.47410221A>T | CA346730647 | MSH2 | c.494A>T (p.Tyr165Phe) c.296A>T (p.Tyr99Phe) n.566A>T n.556A>T | dbSNP gnomAD v4 |
2 | g.47410222T>A | CA346730651 | MSH2 | c.495T>A (p.Tyr165Ter) c.297T>A (p.Tyr99Ter) n.567T>A n.557T>A | ClinVar |
2 | g.47410222T>C | CA426119527 | MSH2 | c.495T>C (p.Tyr165=) c.297T>C (p.Tyr99=) n.567T>C n.557T>C | ClinVar dbSNP |
2 | g.47410222T>G | CA46677963 | MSH2 | c.495T>G (p.Tyr165Ter) c.297T>G (p.Tyr99Ter) n.567T>G n.557T>G | ClinVar dbSNP |
2 | g.47410222T= | CA2495831228 | MSH2 | c.495T= (p.Tyr165=) c.297T= (p.Tyr99=) n.567T= n.557T= | |
2 | g.47410223G>A | CA346730653 | MSH2 | c.496G>A (p.Val166Met) c.298G>A (p.Val100Met) n.568G>A n.558G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410223G>C | CA346730655 | MSH2 | c.496G>C (p.Val166Leu) c.298G>C (p.Val100Leu) n.568G>C n.558G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410223G= | CA2495831229 | MSH2 | c.496G= (p.Val166=) c.298G= (p.Val100=) n.568G= n.558G= | |
2 | g.47410223G>T | CA346730657 | MSH2 | c.496G>T (p.Val166Leu) c.298G>T (p.Val100Leu) n.568G>T n.558G>T | ClinVar dbSNP |
2 | g.47410224T>A | CA346730660 | MSH2 | c.497T>A (p.Val166Glu) c.299T>A (p.Val100Glu) n.569T>A n.559T>A | |
2 | g.47410224T>C | CA346730661 | MSH2 | c.497T>C (p.Val166Ala) c.299T>C (p.Val100Ala) n.569T>C n.559T>C | |
2 | g.47410224T>G | CA346730662 | MSH2 | c.497T>G (p.Val166Gly) c.299T>G (p.Val100Gly) n.569T>G n.559T>G | |
2 | g.47410224dup | CA2580067678 | MSH2 | c.497dup (p.Asp167GlyfsTer11) c.299dup (p.Asp101GlyfsTer11) n.569dup n.559dup | ClinVar |
2 | g.47410225G>A | CA426119530 | MSH2 | c.498G>A (p.Val166=) c.300G>A (p.Val100=) n.570G>A n.560G>A | ClinVar dbSNP |
2 | g.47410225G>C | CA426119528 | MSH2 | c.498G>C (p.Val166=) c.300G>C (p.Val100=) n.570G>C n.560G>C | ClinVar |
2 | g.47410225G>T | CA426119529 | MSH2 | c.498G>T (p.Val166=) c.300G>T (p.Val100=) n.570G>T n.560G>T | |
2 | g.47410226del | CA2699276047 | MSH2 | c.499del (p.Asp167IlefsTer7) c.301del (p.Asp101IlefsTer7) n.571del n.561del | dbSNP |
2 | g.47410226G>A | CA346730665 | MSH2 | c.499G>A (p.Asp167Asn) c.301G>A (p.Asp101Asn) n.571G>A n.561G>A | dbSNP |
2 | g.47410226G>C | CA021225 | MSH2 | c.499G>C (p.Asp167His) c.301G>C (p.Asp101His) n.571G>C n.561G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410226G= | CA2495831230 | MSH2 | c.499G= (p.Asp167=) c.301G= (p.Asp101=) n.571G= n.561G= | |
2 | g.47410226G>T | CA346730668 | MSH2 | c.499G>T (p.Asp167Tyr) c.301G>T (p.Asp101Tyr) n.571G>T n.561G>T | dbSNP |
2 | g.47410227A>C | CA346730674 | MSH2 | c.500A>C (p.Asp167Ala) c.302A>C (p.Asp101Ala) n.572A>C n.562A>C | |
2 | g.47410227A>G | CA346730672 | MSH2 | c.500A>G (p.Asp167Gly) c.302A>G (p.Asp101Gly) n.572A>G n.562A>G | |
2 | g.47410227A>T | CA346730670 | MSH2 | c.500A>T (p.Asp167Val) c.302A>T (p.Asp101Val) n.572A>T n.562A>T | dbSNP |
2 | g.47410228T>A | CA346730676 | MSH2 | c.501T>A (p.Asp167Glu) c.303T>A (p.Asp101Glu) n.573T>A n.563T>A | dbSNP |
2 | g.47410228T>C | CA426119531 | MSH2 | c.501T>C (p.Asp167=) c.303T>C (p.Asp101=) n.573T>C n.563T>C | ClinVar dbSNP |
2 | g.47410228T>G | CA039015 | MSH2 | c.501T>G (p.Asp167Glu) c.303T>G (p.Asp101Glu) n.573T>G n.563T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410228T= | CA2495831231 | MSH2 | c.501T= (p.Asp167=) c.303T= (p.Asp101=) n.573T= n.563T= | |
2 | g.47410228_47410229del | CA2580067681 | MSH2 | c.501_502del (p.Ser168HisfsTer9) c.303_304del (p.Ser102HisfsTer9) n.573_574del n.563_564del | ClinVar |
2 | g.47410229del | CA2580067680 | MSH2 | c.502del (p.Ser168ProfsTer6) c.304del (p.Ser102ProfsTer6) n.574del n.564del | ClinVar |
2 | g.47410229T>A | CA346730677 | MSH2 | c.502T>A (p.Ser168Thr) c.304T>A (p.Ser102Thr) n.574T>A n.564T>A | dbSNP |
2 | g.47410229T>C | CA346730678 | MSH2 | c.502T>C (p.Ser168Pro) c.304T>C (p.Ser102Pro) n.574T>C n.564T>C | COSMIC |
2 | g.47410229T>G | CA346730680 | MSH2 | c.502T>G (p.Ser168Ala) c.304T>G (p.Ser102Ala) n.574T>G n.564T>G | |
2 | g.47410230C>A | CA346730681 | MSH2 | c.503C>A (p.Ser168Tyr) c.305C>A (p.Ser102Tyr) n.575C>A n.565C>A | ClinVar dbSNP |
2 | g.47410230C= | CA2495831232 | MSH2 | c.503C= (p.Ser168=) c.305C= (p.Ser102=) n.575C= n.565C= | |
2 | g.47410230C>G | CA346730682 | MSH2 | c.503C>G (p.Ser168Cys) c.305C>G (p.Ser102Cys) n.575C>G n.565C>G | dbSNP |
2 | g.47410230C>T | CA346730684 | MSH2 | c.503C>T (p.Ser168Phe) c.305C>T (p.Ser102Phe) n.575C>T n.565C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410230_47410234delinsCCATA | CA2495831233 | MSH2 | c.503_507delinsCCATA (p.Ser168=) c.305_309delinsCCATA (p.Ser102=) n.575_579delinsCCATA n.565_569delinsCCATA | |
2 | g.47410231C>A | CA426119534 | MSH2 | c.504C>A (p.Ser168=) c.306C>A (p.Ser102=) n.576C>A n.566C>A | dbSNP |
2 | g.47410231C= | CA2495831234 | MSH2 | c.504C= (p.Ser168=) c.306C= (p.Ser102=) n.576C= n.566C= | |
2 | g.47410231C>G | CA426119532 | MSH2 | c.504C>G (p.Ser168=) c.306C>G (p.Ser102=) n.576C>G n.566C>G | dbSNP |
2 | g.47410231C>T | CA426119533 | MSH2 | c.504C>T (p.Ser168=) c.306C>T (p.Ser102=) n.576C>T n.566C>T | ClinVar dbSNP |
2 | g.47410233_47410236del | CA021243 | MSH2 | c.506_509del (p.Ile169ArgfsTer4) c.308_311del (p.Ile103ArgfsTer4) n.578_581del n.568_571del | ClinVar dbSNP |
2 | g.47410232A= | CA2495831235 | MSH2 | c.505A= (p.Ile169=) c.307A= (p.Ile103=) n.577A= n.567A= | |
2 | g.47410232A>C | CA346730686 | MSH2 | c.505A>C (p.Ile169Leu) c.307A>C (p.Ile103Leu) n.577A>C n.567A>C | |
2 | g.47410232A>G | CA021236 | MSH2 | c.505A>G (p.Ile169Val) c.307A>G (p.Ile103Val) n.577A>G n.567A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47410232A>T | CA346730689 | MSH2 | c.505A>T (p.Ile169Leu) c.307A>T (p.Ile103Leu) n.577A>T n.567A>T | |
2 | g.47410233T>A | CA346730691 | MSH2 | c.506T>A (p.Ile169Lys) c.308T>A (p.Ile103Lys) n.578T>A n.568T>A | dbSNP |
2 | g.47410233T>C | CA16610762 | MSH2 | c.506T>C (p.Ile169Thr) c.308T>C (p.Ile103Thr) n.578T>C n.568T>C | ClinVar dbSNP |
2 | g.47410233T>G | CA346730693 | MSH2 | c.506T>G (p.Ile169Arg) c.308T>G (p.Ile103Arg) n.578T>G n.568T>G | |
2 | g.47410233T= | CA2495831236 | MSH2 | c.506T= (p.Ile169=) c.308T= (p.Ile103=) n.578T= n.568T= | |
2 | g.47410233_47410235delinsCAA | CA2573051952 | MSH2 | c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) c.308_310delinsCAA (p.Ile103_Gln104delinsThrLys) n.578_580delinsCAA n.568_570delinsCAA | ClinVar dbSNP |
2 | g.47410234A= | CA2495831237 | MSH2 | c.507A= (p.Ile169=) c.309A= (p.Ile103=) n.579A= n.569A= | |
2 | g.47410234A>C | CA426119535 | MSH2 | c.507A>C (p.Ile169=) c.309A>C (p.Ile103=) n.579A>C n.569A>C | |
2 | g.47410234A>G | CA039056 | MSH2 | c.507A>G (p.Ile169Met) c.309A>G (p.Ile103Met) n.579A>G n.569A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410234A>T | CA426119536 | MSH2 | c.507A>T (p.Ile169=) c.309A>T (p.Ile103=) n.579A>T n.569A>T | dbSNP |
2 | g.47410235C>A | CA346730695 | MSH2 | c.508C>A (p.Gln170Lys) c.310C>A (p.Gln104Lys) n.580C>A n.570C>A | ClinVar dbSNP |
2 | g.47410235C= | CA2495831238 | MSH2 | c.508C= (p.Gln170=) c.310C= (p.Gln104=) n.580C= n.570C= | |
2 | g.47410235C>G | CA039073 | MSH2 | c.508C>G (p.Gln170Glu) c.310C>G (p.Gln104Glu) n.580C>G n.570C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410235C>T | CA021248 | MSH2 | c.508C>T (p.Gln170Ter) c.310C>T (p.Gln104Ter) n.580C>T n.570C>T | ClinVar dbSNP |
2 | g.47410235_47410236insCTCC | CA1139656947 | MSH2 | c.508_509insCTCC (p.Gln170ProfsTer9) c.310_311insCTCC (p.Gln104ProfsTer9) n.580_581insCTCC n.570_571insCTCC | ClinVar dbSNP |
2 | g.47410236A= | CA2495831239 | MSH2 | c.509A= (p.Gln170=) c.311A= (p.Gln104=) n.581A= n.571A= | |
2 | g.47410236A>C | CA346730699 | MSH2 | c.509A>C (p.Gln170Pro) c.311A>C (p.Gln104Pro) n.581A>C n.571A>C | |
2 | g.47410236A>G | CA346730701 | MSH2 | c.509A>G (p.Gln170Arg) c.311A>G (p.Gln104Arg) n.581A>G n.571A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410236A>T | CA346730703 | MSH2 | c.509A>T (p.Gln170Leu) c.311A>T (p.Gln104Leu) n.581A>T n.571A>T | dbSNP gnomAD v4 COSMIC |
2 | g.47410237G>A | CA426119537 | MSH2 | c.510G>A (p.Gln170=) c.312G>A (p.Gln104=) n.582G>A n.572G>A | dbSNP |
2 | g.47410237G>C | CA346730705 | MSH2 | c.510G>C (p.Gln170His) c.312G>C (p.Gln104His) n.582G>C n.572G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410237G>T | CA346730707 | MSH2 | c.510G>T (p.Gln170His) c.312G>T (p.Gln104His) n.582G>T n.572G>T | ClinVar dbSNP |
2 | g.47410237dup | CA16610786 | MSH2 | c.510dup (p.Arg171GlufsTer7) c.312dup (p.Arg105GlufsTer7) n.582dup n.572dup | ClinVar dbSNP |
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.47410238A>C | CA426119538 | MSH2 | c.511A>C (p.Arg171=) c.313A>C (p.Arg105=) n.583A>C n.573A>C | |
2 | g.47410238A>G | CA346730710 | MSH2 | c.511A>G (p.Arg171Gly) c.313A>G (p.Arg105Gly) n.583A>G n.573A>G | |
2 | g.47410238A>T | CA346730712 | MSH2 | c.511A>T (p.Arg171Trp) c.313A>T (p.Arg105Trp) n.583A>T n.573A>T | dbSNP |
2 | g.47410238_47410239delinsAG | CA2495831240 | MSH2 | c.511_512delinsAG (p.Arg171=) c.313_314delinsAG (p.Arg105=) n.583_584delinsAG n.573_574delinsAG | |
2 | g.47410239G>A | CA021254 | MSH2 | c.512G>A (p.Arg171Lys) c.314G>A (p.Arg105Lys) n.584G>A n.574G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410239G>C | CA346730719 | MSH2 | c.512G>C (p.Arg171Thr) c.314G>C (p.Arg105Thr) n.584G>C n.574G>C | dbSNP gnomAD v4 |
2 | g.47410239G= | CA2495831241 | MSH2 | c.512G= (p.Arg171=) c.314G= (p.Arg105=) n.584G= n.574G= | |
2 | g.47410239G>T | CA346730716 | MSH2 | c.512G>T (p.Arg171Met) c.314G>T (p.Arg105Met) n.584G>T n.574G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410240del | CA021260 | MSH2 | c.513del (p.Lys172AsnfsTer2) c.315del (p.Lys106AsnfsTer2) n.585del n.575del | ClinVar dbSNP |
2 | g.47410239_47410240insAT | CA2580067684 | MSH2 | c.512_513insAT (p.Lys172Ter) c.314_315insAT (p.Lys106Ter) n.584_585insAT n.574_575insAT | ClinVar |
2 | g.47410240G>A | CA426119539 | MSH2 | c.513G>A (p.Arg171=) c.315G>A (p.Arg105=) n.585G>A n.575G>A | dbSNP |
2 | g.47410240G>C | CA346730721 | MSH2 | c.513G>C (p.Arg171Ser) c.315G>C (p.Arg105Ser) n.585G>C n.575G>C | |
2 | g.47410240G>T | CA346730723 | MSH2 | c.513G>T (p.Arg171Ser) c.315G>T (p.Arg105Ser) n.585G>T n.575G>T | |
2 | g.47410241A>C | CA346730726 | MSH2 | c.514A>C (p.Lys172Gln) c.316A>C (p.Lys106Gln) n.586A>C n.576A>C | |
2 | g.47410241A>G | CA346730728 | MSH2 | c.514A>G (p.Lys172Glu) c.316A>G (p.Lys106Glu) n.586A>G n.576A>G | gnomAD v4 |
2 | g.47410241A>T | CA346730730 | MSH2 | c.514A>T (p.Lys172Ter) c.316A>T (p.Lys106Ter) n.586A>T n.576A>T | ClinVar |
2 | g.47410243del | CA2580067685 | MSH2 | c.516del (p.Lys172AsnfsTer2) c.318del (p.Lys106AsnfsTer2) n.588del n.578del | ClinVar |
2 | g.47410242A= | CA2495831242 | MSH2 | c.515A= (p.Lys172=) c.317A= (p.Lys106=) n.587A= n.577A= | |
2 | g.47410242A>C | CA346730732 | MSH2 | c.515A>C (p.Lys172Thr) c.317A>C (p.Lys106Thr) n.587A>C n.577A>C | |
2 | g.47410242A>G | CA346730734 | MSH2 | c.515A>G (p.Lys172Arg) c.317A>G (p.Lys106Arg) n.587A>G n.577A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410242A>T | CA346730735 | MSH2 | c.515A>T (p.Lys172Ile) c.317A>T (p.Lys106Ile) n.587A>T n.577A>T | dbSNP |
2 | g.47410243A= | CA2495831244 | MSH2 | c.516A= (p.Lys172=) c.318A= (p.Lys106=) n.588A= n.578A= | |
2 | g.47410243A>C | CA346730737 | MSH2 | c.516A>C (p.Lys172Asn) c.318A>C (p.Lys106Asn) n.588A>C n.578A>C | |
2 | g.47410243A>G | CA426119540 | MSH2 | c.516A>G (p.Lys172=) c.318A>G (p.Lys106=) n.588A>G n.578A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410243A>T | CA346730738 | MSH2 | c.516A>T (p.Lys172Asn) c.318A>T (p.Lys106Asn) n.588A>T n.578A>T | dbSNP |
2 | g.47410243_47410255delinsACTAGGACTGTGT | CA2495831243 | MSH2 | c.516_528delinsACTAGGACTGTGT (p.Lys172=) c.318_330delinsACTAGGACTGTGT (p.Lys106=) n.588_600delinsACTAGGACTGTGT n.578_590delinsACTAGGACTGTGT | |
2 | g.47410244C>A | CA346730740 | MSH2 | c.517C>A (p.Leu173Ile) c.319C>A (p.Leu107Ile) n.589C>A n.579C>A | |
2 | g.47410244C= | CA2495831245 | MSH2 | c.517C= (p.Leu173=) c.319C= (p.Leu107=) n.589C= n.579C= | |
2 | g.47410244C>G | CA346730741 | MSH2 | c.517C>G (p.Leu173Val) c.319C>G (p.Leu107Val) n.589C>G n.579C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410244C>T | CA426119541 | MSH2 | c.517C>T (p.Leu173=) c.319C>T (p.Leu107=) n.589C>T n.579C>T | dbSNP |
2 | g.47410244_47410245delinsCT | CA2495831246 | MSH2 | c.517_518delinsCT (p.Leu173=) c.319_320delinsCT (p.Leu107=) n.589_590delinsCT n.579_580delinsCT | |
2 | g.47410244_47410255delinsA | CA46678053 | MSH2 | c.517_528delinsA (p.Leu173ArgfsTer4) c.319_330delinsA (p.Leu107ArgfsTer4) n.589_600delinsA n.579_590delinsA | dbSNP |
2 | g.47410245del | CA021265 | MSH2 | c.518del (p.Leu173GlnfsTer?) c.320del (p.Leu107GlnfsTer?) n.590del n.580del | ClinVar dbSNP |
2 | g.47410245T>A | CA346730743 | MSH2 | c.518T>A (p.Leu173Gln) c.320T>A (p.Leu107Gln) n.590T>A n.580T>A | dbSNP |
2 | g.47410245T>C | CA021269 | MSH2 | c.518T>C (p.Leu173Pro) c.320T>C (p.Leu107Pro) n.590T>C n.580T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410245T>G | CA021275 | MSH2 | c.518T>G (p.Leu173Arg) c.320T>G (p.Leu107Arg) n.590T>G n.580T>G | ClinVar dbSNP |
2 | g.47410245T= | CA2495831247 | MSH2 | c.518T= (p.Leu173=) c.320T= (p.Leu107=) n.590T= n.580T= | |
2 | g.47410245_47410246del | CA2586969171 | MSH2 | c.518_519del (p.Leu173ArgfsTer4) c.320_321del (p.Leu107ArgfsTer4) n.590_591del n.580_581del | |
2 | g.47410246A= | CA2495831248 | MSH2 | c.519A= (p.Leu173=) c.321A= (p.Leu107=) n.591A= n.581A= | |
2 | g.47410246A>C | CA426119542 | MSH2 | c.519A>C (p.Leu173=) c.321A>C (p.Leu107=) n.591A>C n.581A>C | |
2 | g.47410246A>G | CA426119543 | MSH2 | c.519A>G (p.Leu173=) c.321A>G (p.Leu107=) n.591A>G n.581A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410246A>T | CA426119544 | MSH2 | c.519A>T (p.Leu173=) c.321A>T (p.Leu107=) n.591A>T n.581A>T | ClinVar |
2 | g.47410247G>A | CA346730748 | MSH2 | c.520G>A (p.Gly174Arg) c.322G>A (p.Gly108Arg) n.592G>A n.582G>A | ClinVar dbSNP |
2 | g.47410247G>C | CA346730749 | MSH2 | c.520G>C (p.Gly174Arg) c.322G>C (p.Gly108Arg) n.592G>C n.582G>C | dbSNP |
2 | g.47410247G>T | CA346730751 | MSH2 | c.520G>T (p.Gly174Ter) c.322G>T (p.Gly108Ter) n.592G>T n.582G>T | ClinVar dbSNP |
2 | g.47410248dup | CA2580067687 | MSH2 | c.521dup (p.Leu175ThrfsTer3) c.323dup (p.Leu109ThrfsTer3) n.593dup n.583dup | ClinVar |
2 | g.47410248G>A | CA039162 | MSH2 | c.521G>A (p.Gly174Glu) c.323G>A (p.Gly108Glu) n.593G>A n.583G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.47410248G>C | CA346730754 | MSH2 | c.521G>C (p.Gly174Ala) c.323G>C (p.Gly108Ala) n.593G>C n.583G>C | dbSNP |
2 | g.47410248G= | CA2495831249 | MSH2 | c.521G= (p.Gly174=) c.323G= (p.Gly108=) n.593G= n.583G= | |
2 | g.47410248G>T | CA346730756 | MSH2 | c.521G>T (p.Gly174Val) c.323G>T (p.Gly108Val) n.593G>T n.583G>T | dbSNP |
2 | g.47410249A= | CA2495831250 | MSH2 | c.522A= (p.Gly174=) c.324A= (p.Gly108=) n.594A= n.584A= | |
2 | g.47410249A>C | CA426119545 | MSH2 | c.522A>C (p.Gly174=) c.324A>C (p.Gly108=) n.594A>C n.584A>C | |
2 | g.47410249A>G | CA426119546 | MSH2 | c.522A>G (p.Gly174=) c.324A>G (p.Gly108=) n.594A>G n.584A>G | ClinVar dbSNP |
2 | g.47410249A>T | CA426119547 | MSH2 | c.522A>T (p.Gly174=) c.324A>T (p.Gly108=) n.594A>T n.584A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410249_47410291delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG | CA2495831251 | MSH2 | c.522_564delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG (p.Gly174=) c.324_366delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG (p.Gly108=) n.594_636delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG n.584_626delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG | |
2 | g.47410250C>A | CA346730758 | MSH2 | c.523C>A (p.Leu175Met) c.325C>A (p.Leu109Met) n.595C>A n.585C>A | |
2 | g.47410250C>G | CA346730760 | MSH2 | c.523C>G (p.Leu175Val) c.325C>G (p.Leu109Val) n.595C>G n.585C>G | |
2 | g.47410250C>T | CA426119548 | MSH2 | c.523C>T (p.Leu175=) c.325C>T (p.Leu109=) n.595C>T n.585C>T | ClinVar dbSNP |
2 | g.47410250_47410252delinsCTG | CA2495831252 | MSH2 | c.523_525delinsCTG (p.Leu175=) c.325_327delinsCTG (p.Leu109=) n.595_597delinsCTG n.585_587delinsCTG | |
2 | g.47410250_47410258delinsCTGTGTGAA | CA2495831253 | MSH2 | c.523_531delinsCTGTGTGAA (p.Leu175=) c.325_333delinsCTGTGTGAA (p.Leu109=) n.595_603delinsCTGTGTGAA n.585_593delinsCTGTGTGAA | |
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.47410251del | CA2580067690 | MSH2 | c.524del (p.Leu175ArgfsTer?) c.326del (p.Leu109ArgfsTer?) n.596del n.586del | ClinVar |
2 | g.47410251T>A | CA346730766 | MSH2 | c.524T>A (p.Leu175Gln) c.326T>A (p.Leu109Gln) n.596T>A n.586T>A | dbSNP |
2 | g.47410251T>C | CA021302 | MSH2 | c.524T>C (p.Leu175Pro) c.326T>C (p.Leu109Pro) n.596T>C n.586T>C | ClinVar dbSNP |
2 | g.47410251T>G | CA346730763 | MSH2 | c.524T>G (p.Leu175Arg) c.326T>G (p.Leu109Arg) n.596T>G n.586T>G | |
2 | g.47410251T= | CA2495831254 | MSH2 | c.524T= (p.Leu175=) c.326T= (p.Leu109=) n.596T= n.586T= | |
2 | g.47410255_47410256del | CA021311 | MSH2 | c.528_529del (p.Cys176Ter) c.330_331del (p.Cys110Ter) n.600_601del n.590_591del | ClinVar dbSNP |
2 | g.47410252_47410259del | CA645369184 | MSH2 | c.525_532del (p.Cys176ProfsTer2) c.327_334del (p.Cys110ProfsTer2) n.597_604del n.587_594del | ClinVar dbSNP |
2 | g.47410252G>A | CA039174 | MSH2 | c.525G>A (p.Leu175=) c.327G>A (p.Leu109=) n.597G>A n.587G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410252G>C | CA46678080 | MSH2 | c.525G>C (p.Leu175=) c.327G>C (p.Leu109=) n.597G>C n.587G>C | ClinVar dbSNP |
2 | g.47410252G= | CA2495831255 | MSH2 | c.525G= (p.Leu175=) c.327G= (p.Leu109=) n.597G= n.587G= | |
2 | g.47410252G>T | CA10577940 | MSH2 | c.525G>T (p.Leu175=) c.327G>T (p.Leu109=) n.597G>T n.587G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410253T>A | CA346730770 | MSH2 | c.526T>A (p.Cys176Ser) c.328T>A (p.Cys110Ser) n.598T>A n.588T>A | dbSNP |
2 | g.47410253T>C | CA346730772 | MSH2 | c.526T>C (p.Cys176Arg) c.328T>C (p.Cys110Arg) n.598T>C n.588T>C | |
2 | g.47410253T>G | CA346730773 | MSH2 | c.526T>G (p.Cys176Gly) c.328T>G (p.Cys110Gly) n.598T>G n.588T>G | ClinVar dbSNP |
2 | g.47410254G>A | CA346730775 | MSH2 | c.527G>A (p.Cys176Tyr) c.329G>A (p.Cys110Tyr) n.599G>A n.589G>A | ClinVar dbSNP |
2 | g.47410254G>C | CA346730777 | MSH2 | c.527G>C (p.Cys176Ser) c.329G>C (p.Cys110Ser) n.599G>C n.589G>C | dbSNP |
2 | g.47410254G= | CA2495831256 | MSH2 | c.527G= (p.Cys176=) c.329G= (p.Cys110=) n.599G= n.589G= | |
2 | g.47410254G>T | CA346730779 | MSH2 | c.527G>T (p.Cys176Phe) c.329G>T (p.Cys110Phe) n.599G>T n.589G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410255T>A | CA346730780 | MSH2 | c.528T>A (p.Cys176Ter) c.330T>A (p.Cys110Ter) n.600T>A n.590T>A | dbSNP |
2 | g.47410255T>C | CA426119549 | MSH2 | c.528T>C (p.Cys176=) c.330T>C (p.Cys110=) n.600T>C n.590T>C | |
2 | g.47410255T>G | CA346730782 | MSH2 | c.528T>G (p.Cys176Trp) c.330T>G (p.Cys110Trp) n.600T>G n.590T>G | dbSNP |
2 | g.47410256G>A | CA021318 | MSH2 | c.529G>A (p.Glu177Lys) c.331G>A (p.Glu111Lys) n.601G>A n.591G>A | ClinVar dbSNP |
2 | g.47410256G>C | CA346730786 | MSH2 | c.529G>C (p.Glu177Gln) c.331G>C (p.Glu111Gln) n.601G>C n.591G>C | dbSNP |
2 | g.47410256G= | CA2495831257 | MSH2 | c.529G= (p.Glu177=) c.331G= (p.Glu111=) n.601G= n.591G= | |
2 | g.47410256G>T | CA021325 | MSH2 | c.529G>T (p.Glu177Ter) c.331G>T (p.Glu111Ter) n.601G>T n.591G>T | ClinVar dbSNP |
2 | g.47410256_47410258delinsGAA | CA2495831258 | MSH2 | c.529_531delinsGAA (p.Glu177=) c.331_333delinsGAA (p.Glu111=) n.601_603delinsGAA n.591_593delinsGAA | |
2 | g.47410257A= | CA2495831259 | MSH2 | c.530A= (p.Glu177=) c.332A= (p.Glu111=) n.602A= n.592A= | |
2 | g.47410257A>C | CA346730790 | MSH2 | c.530A>C (p.Glu177Ala) c.332A>C (p.Glu111Ala) n.602A>C n.592A>C | |
2 | g.47410257A>G | CA346730791 | MSH2 | c.530A>G (p.Glu177Gly) c.332A>G (p.Glu111Gly) n.602A>G n.592A>G | ClinVar dbSNP |
2 | g.47410257A>T | CA021339 | MSH2 | c.530A>T (p.Glu177Val) c.332A>T (p.Glu111Val) n.602A>T n.592A>T | ClinVar dbSNP |
2 | g.47410257_47410258del | CA021332 | MSH2 | c.530_531del (p.Glu177ValfsTer3) c.332_333del (p.Glu111ValfsTer3) n.602_603del n.592_593del | ClinVar dbSNP |
2 | g.47410257_47410260delinsTTC | CA2580067693 | MSH2 | c.530_533delinsTTC (p.Glu177ValfsTer?) c.332_335delinsTTC (p.Glu111ValfsTer?) n.602_605delinsTTC n.592_595delinsTTC | ClinVar |
2 | g.47410257_47410266del | CA2695200743 | MSH2 | c.530_539del (p.Glu177ValfsTer?) c.332_341del (p.Glu111ValfsTer?) n.602_611del n.592_601del | ClinVar |
2 | g.47410258A= | CA2495831260 | MSH2 | c.531A= (p.Glu177=) c.333A= (p.Glu111=) n.603A= n.593A= | |
2 | g.47410258A>C | CA346730795 | MSH2 | c.531A>C (p.Glu177Asp) c.333A>C (p.Glu111Asp) n.603A>C n.593A>C | |
2 | g.47410258A>G | CA16610764 | MSH2 | c.531A>G (p.Glu177=) c.333A>G (p.Glu111=) n.603A>G n.593A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410258A>T | CA346730797 | MSH2 | c.531A>T (p.Glu177Asp) c.333A>T (p.Glu111Asp) n.603A>T n.593A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410259T>A | CA346730802 | MSH2 | c.532T>A (p.Phe178Ile) c.334T>A (p.Phe112Ile) n.604T>A n.594T>A | |
2 | g.47410259T>C | CA346730799 | MSH2 | c.532T>C (p.Phe178Leu) c.334T>C (p.Phe112Leu) n.604T>C n.594T>C | |
2 | g.47410259T>G | CA346730800 | MSH2 | c.532T>G (p.Phe178Val) c.334T>G (p.Phe112Val) n.604T>G n.594T>G | dbSNP |
2 | g.47410260T>A | CA346730804 | MSH2 | c.533T>A (p.Phe178Tyr) c.335T>A (p.Phe112Tyr) n.605T>A n.595T>A | ClinVar dbSNP |
2 | g.47410260T>C | CA346730806 | MSH2 | c.533T>C (p.Phe178Ser) c.335T>C (p.Phe112Ser) n.605T>C n.595T>C | |
2 | g.47410260T>G | CA346730808 | MSH2 | c.533T>G (p.Phe178Cys) c.335T>G (p.Phe112Cys) n.605T>G n.595T>G | |
2 | g.47410260T= | CA2495831261 | MSH2 | c.533T= (p.Phe178=) c.335T= (p.Phe112=) n.605T= n.595T= | |
2 | g.47410260_47410262delinsTCC | CA2495831262 | MSH2 | c.533_535delinsTCC (p.Phe178=) c.335_337delinsTCC (p.Phe112=) n.605_607delinsTCC n.595_597delinsTCC | |
2 | g.47410261C>A | CA346730810 | MSH2 | c.534C>A (p.Phe178Leu) c.336C>A (p.Phe112Leu) n.606C>A n.596C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410261C= | CA2495831263 | MSH2 | c.534C= (p.Phe178=) c.336C= (p.Phe112=) n.606C= n.596C= | |
2 | g.47410261C>G | CA346730812 | MSH2 | c.534C>G (p.Phe178Leu) c.336C>G (p.Phe112Leu) n.606C>G n.596C>G | ClinVar dbSNP |
2 | g.47410261C>T | CA426119550 | MSH2 | c.534C>T (p.Phe178=) c.336C>T (p.Phe112=) n.606C>T n.596C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410263dup | CA1139771125 | MSH2 | c.536dup (p.Asp180Ter) c.338dup (p.Asp114Ter) n.608dup n.598dup | |
2 | g.47410263del | CA645369185 | MSH2 | c.536del (p.Pro179LeufsTer?) c.338del (p.Pro113LeufsTer?) n.608del n.598del | ClinVar dbSNP |
2 | g.47410262_47410263del | CA645369186 | MSH2 | c.535_536del (p.Pro179Ter) c.337_338del (p.Pro113Ter) n.607_608del n.597_598del | ClinVar dbSNP |
2 | g.47410261_47410274del | CA2580067695 | MSH2 | c.534_547del (p.Phe178LeufsTer6) c.336_349del (p.Phe112LeufsTer6) n.606_619del n.596_609del | ClinVar |
2 | g.47410262C>A | CA346730814 | MSH2 | c.535C>A (p.Pro179Thr) c.337C>A (p.Pro113Thr) n.607C>A n.597C>A | dbSNP |
2 | g.47410262C= | CA2495831264 | MSH2 | c.535C= (p.Pro179=) c.337C= (p.Pro113=) n.607C= n.597C= | |
2 | g.47410262C>G | CA346730817 | MSH2 | c.535C>G (p.Pro179Ala) c.337C>G (p.Pro113Ala) n.607C>G n.597C>G | dbSNP |
2 | g.47410262C>T | CA346730815 | MSH2 | c.535C>T (p.Pro179Ser) c.337C>T (p.Pro113Ser) n.607C>T n.597C>T | dbSNP |
2 | g.47410263C>A | CA346730819 | MSH2 | c.536C>A (p.Pro179His) c.338C>A (p.Pro113His) n.608C>A n.598C>A | dbSNP gnomAD v4 |
2 | g.47410263C= | CA2495831265 | MSH2 | c.536C= (p.Pro179=) c.338C= (p.Pro113=) n.608C= n.598C= | |
2 | g.47410263C>G | CA346730820 | MSH2 | c.536C>G (p.Pro179Arg) c.338C>G (p.Pro113Arg) n.608C>G n.598C>G | dbSNP |
2 | g.47410263C>T | CA46678119 | MSH2 | c.536C>T (p.Pro179Leu) c.338C>T (p.Pro113Leu) n.608C>T n.598C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410264T>A | CA426119553 | MSH2 | c.537T>A (p.Pro179=) c.339T>A (p.Pro113=) n.609T>A n.599T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410264T>C | CA426119554 | MSH2 | c.537T>C (p.Pro179=) c.339T>C (p.Pro113=) n.609T>C n.599T>C | ClinVar dbSNP |
2 | g.47410264T>G | CA426119555 | MSH2 | c.537T>G (p.Pro179=) c.339T>G (p.Pro113=) n.609T>G n.599T>G | |
2 | g.47410264T= | CA2495831266 | MSH2 | c.537T= (p.Pro179=) c.339T= (p.Pro113=) n.609T= n.599T= | |
2 | g.47410265del | CA2573051953 | MSH2 | c.538del (p.Asp180IlefsTer?) c.340del (p.Asp114IlefsTer?) n.610del n.600del | ClinVar dbSNP |
2 | g.47410265G>A | CA346730822 | MSH2 | c.538G>A (p.Asp180Asn) c.340G>A (p.Asp114Asn) n.610G>A n.600G>A | ClinVar dbSNP |
2 | g.47410265G>C | CA346730824 | MSH2 | c.538G>C (p.Asp180His) c.340G>C (p.Asp114His) n.610G>C n.600G>C | dbSNP |
2 | g.47410265G>T | CA346730826 | MSH2 | c.538G>T (p.Asp180Tyr) c.340G>T (p.Asp114Tyr) n.610G>T n.600G>T | |
2 | g.47410266A= | CA2495831267 | MSH2 | c.539A= (p.Asp180=) c.341A= (p.Asp114=) n.611A= n.601A= | |
2 | g.47410266A>C | CA346730829 | MSH2 | c.539A>C (p.Asp180Ala) c.341A>C (p.Asp114Ala) n.611A>C n.601A>C | ClinVar dbSNP |
2 | g.47410266A>G | CA346730830 | MSH2 | c.539A>G (p.Asp180Gly) c.341A>G (p.Asp114Gly) n.611A>G n.601A>G | ClinVar |
2 | g.47410266A>T | CA346730832 | MSH2 | c.539A>T (p.Asp180Val) c.341A>T (p.Asp114Val) n.611A>T n.601A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410267_47410268del | CA2582342369 | MSH2 | c.540_541del (p.Asp180GlufsTer2) c.342_343del (p.Asp114GlufsTer2) n.612_613del n.602_603del | ClinVar |
2 | g.47410268_47410270del | CA2576960615 | MSH2 | c.541_543del (p.Asn181del) c.343_345del (p.Asn115del) n.613_615del n.603_605del | |
2 | g.47410267T>A | CA346730834 | MSH2 | c.540T>A (p.Asp180Glu) c.342T>A (p.Asp114Glu) n.612T>A n.602T>A | |
2 | g.47410267T>C | CA426119559 | MSH2 | c.540T>C (p.Asp180=) c.342T>C (p.Asp114=) n.612T>C n.602T>C | ClinVar dbSNP |
2 | g.47410267T>G | CA346730836 | MSH2 | c.540T>G (p.Asp180Glu) c.342T>G (p.Asp114Glu) n.612T>G n.602T>G | |
2 | g.47410267T= | CA2495831268 | MSH2 | c.540T= (p.Asp180=) c.342T= (p.Asp114=) n.612T= n.602T= | |
2 | g.47410268A>C | CA346730841 | MSH2 | c.541A>C (p.Asn181His) c.343A>C (p.Asn115His) n.613A>C n.603A>C | ClinVar dbSNP |
2 | g.47410268A>G | CA346730840 | MSH2 | c.541A>G (p.Asn181Asp) c.343A>G (p.Asn115Asp) n.613A>G n.603A>G | ClinVar gnomAD v4 |
2 | g.47410268A>T | CA346730838 | MSH2 | c.541A>T (p.Asn181Tyr) c.343A>T (p.Asn115Tyr) n.613A>T n.603A>T | dbSNP |
2 | g.47410269A>C | CA346730843 | MSH2 | c.542A>C (p.Asn181Thr) c.344A>C (p.Asn115Thr) n.614A>C n.604A>C | |
2 | g.47410269A>G | CA346730845 | MSH2 | c.542A>G (p.Asn181Ser) c.344A>G (p.Asn115Ser) n.614A>G n.604A>G | |
2 | g.47410269A>T | CA346730844 | MSH2 | c.542A>T (p.Asn181Ile) c.344A>T (p.Asn115Ile) n.614A>T n.604A>T | |
2 | g.47410270T>A | CA346730849 | MSH2 | c.543T>A (p.Asn181Lys) c.345T>A (p.Asn115Lys) n.615T>A n.605T>A | dbSNP |
2 | g.47410270T>C | CA039199 | MSH2 | c.543T>C (p.Asn181=) c.345T>C (p.Asn115=) n.615T>C n.605T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47410270T>G | CA346730851 | MSH2 | c.543T>G (p.Asn181Lys) c.345T>G (p.Asn115Lys) n.615T>G n.605T>G | |
2 | g.47410270T= | CA2495831269 | MSH2 | c.543T= (p.Asn181=) c.345T= (p.Asn115=) n.615T= n.605T= | |
2 | g.47410271G>A | CA346730853 | MSH2 | c.544G>A (p.Asp182Asn) c.346G>A (p.Asp116Asn) n.616G>A n.606G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410271G>C | CA346730855 | MSH2 | c.544G>C (p.Asp182His) c.346G>C (p.Asp116His) n.616G>C n.606G>C | dbSNP gnomAD v4 |
2 | g.47410271G= | CA2495831270 | MSH2 | c.544G= (p.Asp182=) c.346G= (p.Asp116=) n.616G= n.606G= | |
2 | g.47410271G>T | CA021347 | MSH2 | c.544G>T (p.Asp182Tyr) c.346G>T (p.Asp116Tyr) n.616G>T n.606G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410272A= | CA2495831271 | MSH2 | c.545A= (p.Asp182=) c.347A= (p.Asp116=) n.617A= n.607A= | |
2 | g.47410272A>C | CA346730862 | MSH2 | c.545A>C (p.Asp182Ala) c.347A>C (p.Asp116Ala) n.617A>C n.607A>C | dbSNP |
2 | g.47410272A>G | CA346730858 | MSH2 | c.545A>G (p.Asp182Gly) c.347A>G (p.Asp116Gly) n.617A>G n.607A>G | dbSNP |
2 | g.47410272A>T | CA346730860 | MSH2 | c.545A>T (p.Asp182Val) c.347A>T (p.Asp116Val) n.617A>T n.607A>T | ClinVar dbSNP |
2 | g.47410273T>A | CA346730864 | MSH2 | c.546T>A (p.Asp182Glu) c.348T>A (p.Asp116Glu) n.618T>A n.608T>A | ClinVar dbSNP |
2 | g.47410273T>C | CA426119565 | MSH2 | c.546T>C (p.Asp182=) c.348T>C (p.Asp116=) n.618T>C n.608T>C | ClinVar |
2 | g.47410273T>G | CA346730866 | MSH2 | c.546T>G (p.Asp182Glu) c.348T>G (p.Asp116Glu) n.618T>G n.608T>G | 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.47410274del | CA2580067696 | MSH2 | c.547del (p.Gln183SerfsTer?) c.349del (p.Gln117SerfsTer?) n.619del n.609del | ClinVar |
2 | g.47410274C>A | CA346730870 | MSH2 | c.547C>A (p.Gln183Lys) c.349C>A (p.Gln117Lys) n.619C>A n.609C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410274C= | CA2495831272 | MSH2 | c.547C= (p.Gln183=) c.349C= (p.Gln117=) n.619C= n.609C= | |
2 | g.47410274C>G | CA346730871 | MSH2 | c.547C>G (p.Gln183Glu) c.349C>G (p.Gln117Glu) n.619C>G n.609C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410274C>T | CA021358 | MSH2 | c.547C>T (p.Gln183Ter) c.349C>T (p.Gln117Ter) n.619C>T n.609C>T | ClinVar dbSNP |
2 | g.47410275A= | CA2495831273 | MSH2 | c.548A= (p.Gln183=) c.350A= (p.Gln117=) n.620A= n.610A= | |
2 | g.47410275A>C | CA346730876 | MSH2 | c.548A>C (p.Gln183Pro) c.350A>C (p.Gln117Pro) n.620A>C n.610A>C | |
2 | g.47410275A>G | CA346730873 | MSH2 | c.548A>G (p.Gln183Arg) c.350A>G (p.Gln117Arg) n.620A>G n.610A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410275A>T | CA346730875 | MSH2 | c.548A>T (p.Gln183Leu) c.350A>T (p.Gln117Leu) n.620A>T n.610A>T | dbSNP |
2 | g.47410276G>A | CA426119567 | MSH2 | c.549G>A (p.Gln183=) c.351G>A (p.Gln117=) n.621G>A n.611G>A | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47410276G>C | CA346730878 | MSH2 | c.549G>C (p.Gln183His) c.351G>C (p.Gln117His) n.621G>C n.611G>C | dbSNP |
2 | g.47410276G= | CA2495831274 | MSH2 | c.549G= (p.Gln183=) c.351G= (p.Gln117=) n.621G= n.611G= | |
2 | g.47410276G>T | CA346730880 | MSH2 | c.549G>T (p.Gln183His) c.351G>T (p.Gln117His) n.621G>T n.611G>T | ClinVar |
2 | g.47410276_47410277del | CA2580067697 | MSH2 | c.549_550del (p.Gln183HisfsTer5) c.351_352del (p.Gln117HisfsTer5) n.621_622del n.611_612del | ClinVar |
2 | g.47410276_47410277delinsGT | CA2495831275 | MSH2 | c.549_550delinsGT (p.Gln183=) c.351_352delinsGT (p.Gln117=) n.621_622delinsGT n.611_612delinsGT | |
2 | g.47410277T>A | CA346730881 | MSH2 | c.550T>A (p.Phe184Ile) c.352T>A (p.Phe118Ile) n.622T>A n.612T>A | dbSNP |
2 | g.47410277T>C | CA346730882 | MSH2 | c.550T>C (p.Phe184Leu) c.352T>C (p.Phe118Leu) n.622T>C n.612T>C | |
2 | g.47410277T>G | CA346730883 | MSH2 | c.550T>G (p.Phe184Val) c.352T>G (p.Phe118Val) n.622T>G n.612T>G | dbSNP |
2 | g.47410278del | CA021375 | MSH2 | c.551del (p.Phe184SerfsTer30) c.353del (p.Phe118SerfsTer30) c.353del (p.Phe118SerfsTer?) n.623del n.613del | ClinVar dbSNP |
2 | g.47410278T>A | CA346730884 | MSH2 | c.551T>A (p.Phe184Tyr) c.353T>A (p.Phe118Tyr) n.623T>A n.613T>A | dbSNP gnomAD v4 |
2 | g.47410278T>C | CA346730885 | MSH2 | c.551T>C (p.Phe184Ser) c.353T>C (p.Phe118Ser) n.623T>C n.613T>C | dbSNP |
2 | g.47410278T>G | CA346730886 | MSH2 | c.551T>G (p.Phe184Cys) c.353T>G (p.Phe118Cys) n.623T>G n.613T>G | |
2 | g.47410279C>A | CA346730888 | MSH2 | c.552C>A (p.Phe184Leu) c.354C>A (p.Phe118Leu) n.624C>A n.614C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410279C= | CA2495831276 | MSH2 | c.552C= (p.Phe184=) c.354C= (p.Phe118=) n.624C= n.614C= | |
2 | g.47410279C>G | CA346730889 | MSH2 | c.552C>G (p.Phe184Leu) c.354C>G (p.Phe118Leu) n.624C>G n.614C>G | dbSNP gnomAD v4 |
2 | g.47410279C>T | CA021384 | MSH2 | c.552C>T (p.Phe184=) c.354C>T (p.Phe118=) n.624C>T n.614C>T | ClinVar dbSNP |
2 | g.47410280T>A | CA346730891 | MSH2 | c.553T>A (p.Ser185Thr) c.355T>A (p.Ser119Thr) n.625T>A n.615T>A | |
2 | g.47410280T>C | CA346730893 | MSH2 | c.553T>C (p.Ser185Pro) c.355T>C (p.Ser119Pro) n.625T>C n.615T>C | ClinVar |
2 | g.47410280T>G | CA346730892 | MSH2 | c.553T>G (p.Ser185Ala) c.355T>G (p.Ser119Ala) n.625T>G n.615T>G | |
2 | g.47410281C>A | CA346730896 | MSH2 | c.554C>A (p.Ser185Tyr) c.356C>A (p.Ser119Tyr) n.626C>A n.616C>A | ClinVar dbSNP |
2 | g.47410281C= | CA2495831277 | MSH2 | c.554C= (p.Ser185=) c.356C= (p.Ser119=) n.626C= n.616C= | |
2 | g.47410281C>G | CA346730898 | MSH2 | c.554C>G (p.Ser185Cys) c.356C>G (p.Ser119Cys) n.626C>G n.616C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410281C>T | CA10581997 | MSH2 | c.554C>T (p.Ser185Phe) c.356C>T (p.Ser119Phe) n.626C>T n.616C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410282C>A | CA426119574 | MSH2 | c.555C>A (p.Ser185=) c.357C>A (p.Ser119=) n.627C>A n.617C>A | ClinVar dbSNP |
2 | g.47410282C>G | CA426119575 | MSH2 | c.555C>G (p.Ser185=) c.357C>G (p.Ser119=) n.627C>G n.617C>G | |
2 | g.47410282C>T | CA426119576 | MSH2 | c.555C>T (p.Ser185=) c.357C>T (p.Ser119=) n.627C>T n.617C>T | ClinVar dbSNP gnomAD v4 |
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 | ClinVar 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 |