Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47412570_47415848del | CA331682 | MSH2 | c.792+10_943-448del c.594+10_745-448del n.864+10_1015-448del n.854+10_1005-448del | ClinVar |
2 | g.47412761_47419934del | CA2843744678 | MSH2 | c.792+201_1076+3505del c.594+201_878+3505del c.792+201_*48+3505del n.864+201_1148+3505del n.854+201_1138+3505del | |
2 | g.47414262_47414868delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT | CA2495833736 | MSH2 | c.793-7_942+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT c.595-7_744+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT n.865-7_1014+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT n.855-7_1004+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT | |
2 | g.47414263_47414868del | CA331685 | MSH2 | c.793-6_942+450del c.595-6_744+450del n.865-6_1014+450del n.855-6_1004+450del | ClinVar dbSNP |
2 | g.47414267_47416282del | CA2499216016 | MSH2 | c.793-2_943-14del c.595-2_745-14del n.865-2_1015-14del n.855-2_1005-14del | ClinVar |
2 | g.47414278_47414315del | CA2580066985 | MSH2 | c.802_839del (p.Ser268IlefsTer3) c.604_641del (p.Ser202IlefsTer3) n.874_911del n.864_901del | ClinVar |
2 | g.47414291_47414292delinsCG | CA2495833882 | MSH2 | c.815_816delinsCG (p.Ala272=) c.617_618delinsCG (p.Ala206=) n.887_888delinsCG n.877_878delinsCG | |
2 | g.47414292G>A | CA040753 | MSH2 | c.816G>A (p.Ala272=) c.618G>A (p.Ala206=) n.888G>A n.878G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414292G>C | CA425969726 | MSH2 | c.816G>C (p.Ala272=) c.618G>C (p.Ala206=) n.888G>C n.878G>C | ClinVar |
2 | g.47414292G= | CA2495833893 | MSH2 | c.816G= (p.Ala272=) c.618G= (p.Ala206=) n.888G= n.878G= | |
2 | g.47414292G>T | CA425969723 | MSH2 | c.816G>T (p.Ala272=) c.618G>T (p.Ala206=) n.888G>T n.878G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414293del | CA1139656931 | MSH2 | c.817del (p.Val273Ter) c.619del (p.Val207Ter) n.889del n.879del | ClinVar dbSNP |
2 | g.47414293G>A | CA040766 | MSH2 | c.817G>A (p.Val273Ile) c.619G>A (p.Val207Ile) n.889G>A n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414293G>C | CA346732773 | MSH2 | c.817G>C (p.Val273Leu) c.619G>C (p.Val207Leu) n.889G>C n.879G>C | dbSNP |
2 | g.47414293G= | CA2495833904 | MSH2 | c.817G= (p.Val273=) c.619G= (p.Val207=) n.889G= n.879G= | |
2 | g.47414293G>T | CA346732774 | MSH2 | c.817G>T (p.Val273Leu) c.619G>T (p.Val207Leu) n.889G>T n.879G>T | ClinVar dbSNP |
2 | g.47414293_47414294delinsAA | CA022365 | MSH2 | c.817_818delinsAA (p.Val273Lys) c.619_620delinsAA (p.Val207Lys) n.889_890delinsAA n.879_880delinsAA | dbSNP |
2 | g.47414293_47414294delinsGT | CA2495833903 | MSH2 | c.817_818delinsGT (p.Val273=) c.619_620delinsGT (p.Val207=) n.889_890delinsGT n.879_880delinsGT | |
2 | g.47414294del | CA913090558 | MSH2 | c.818del (p.Val273GlufsTer5) c.620del (p.Val207GlufsTer5) n.890del n.880del | |
2 | g.47414294T>A | CA346732775 | MSH2 | c.818T>A (p.Val273Glu) c.620T>A (p.Val207Glu) n.890T>A n.880T>A | |
2 | g.47414294T>C | CA040789 | MSH2 | c.818T>C (p.Val273Ala) c.620T>C (p.Val207Ala) n.890T>C n.880T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414294T>G | CA346732776 | MSH2 | c.818T>G (p.Val273Gly) c.620T>G (p.Val207Gly) n.890T>G n.880T>G | |
2 | g.47414294T= | CA2495833913 | MSH2 | c.818T= (p.Val273=) c.620T= (p.Val207=) n.890T= n.880T= | |
2 | g.47414294_47414297delinsTAAT | CA2495833916 | MSH2 | c.818_821delinsTAAT (p.Val273=) c.620_623delinsTAAT (p.Val207=) n.890_893delinsTAAT n.880_883delinsTAAT | |
2 | g.47414295A= | CA2495833926 | MSH2 | c.819A= (p.Val273=) c.621A= (p.Val207=) n.891A= n.881A= | |
2 | g.47414295A>C | CA425969734 | MSH2 | c.819A>C (p.Val273=) c.621A>C (p.Val207=) n.891A>C n.881A>C | |
2 | g.47414295A>G | CA022370 | MSH2 | c.819A>G (p.Val273=) c.621A>G (p.Val207=) n.891A>G n.881A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414295A>T | CA425969737 | MSH2 | c.819A>T (p.Val273=) c.621A>T (p.Val207=) n.891A>T n.881A>T | dbSNP gnomAD v4 |
2 | g.47414295_47414297delinsTG | CA349973 | MSH2 | c.819_821delinsTG (p.Ile274AlafsTer4) c.621_623delinsTG (p.Ile208AlafsTer4) n.891_893delinsTG n.881_883delinsTG | ClinVar dbSNP |
2 | g.47414296A= | CA2495833935 | MSH2 | c.820A= (p.Ile274=) c.622A= (p.Ile208=) n.892A= n.882A= | |
2 | g.47414296A>C | CA346732777 | MSH2 | c.820A>C (p.Ile274Leu) c.622A>C (p.Ile208Leu) n.892A>C n.882A>C | ClinVar dbSNP |
2 | g.47414296A>G | CA022377 | MSH2 | c.820A>G (p.Ile274Val) c.622A>G (p.Ile208Val) n.892A>G n.882A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414296A>T | CA346732778 | MSH2 | c.820A>T (p.Ile274Phe) c.622A>T (p.Ile208Phe) n.892A>T n.882A>T | dbSNP |
2 | g.47414297T>A | CA346732779 | MSH2 | c.821T>A (p.Ile274Asn) c.623T>A (p.Ile208Asn) n.893T>A n.883T>A | dbSNP gnomAD v4 |
2 | g.47414297T>C | CA346732780 | MSH2 | c.821T>C (p.Ile274Thr) c.623T>C (p.Ile208Thr) n.893T>C n.883T>C | dbSNP |
2 | g.47414297T>G | CA346732781 | MSH2 | c.821T>G (p.Ile274Ser) c.623T>G (p.Ile208Ser) n.893T>G n.883T>G | dbSNP |
2 | g.47414297_47414298insG | CA2499216017 | MSH2 | c.821_822insG (p.Ile274MetfsTer10) c.623_624insG (p.Ile208MetfsTer10) n.893_894insG n.883_884insG | dbSNP |
2 | g.47414298C>A | CA425969748 | MSH2 | c.822C>A (p.Ile274=) c.624C>A (p.Ile208=) n.894C>A n.884C>A | ClinVar gnomAD v4 |
2 | g.47414298C= | CA2495833938 | MSH2 | c.822C= (p.Ile274=) c.624C= (p.Ile208=) n.894C= n.884C= | |
2 | g.47414298C>G | CA46683968 | MSH2 | c.822C>G (p.Ile274Met) c.624C>G (p.Ile208Met) n.894C>G n.884C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414298C>T | CA425969749 | MSH2 | c.822C>T (p.Ile274=) c.624C>T (p.Ile208=) n.894C>T n.884C>T | ClinVar dbSNP |
2 | g.47414299A= | CA2495833939 | MSH2 | c.823A= (p.Lys275=) c.625A= (p.Lys209=) n.895A= n.885A= | |
2 | g.47414299A>C | CA346732784 | MSH2 | c.823A>C (p.Lys275Gln) c.625A>C (p.Lys209Gln) n.895A>C n.885A>C | ClinVar dbSNP |
2 | g.47414299A>G | CA346732782 | MSH2 | c.823A>G (p.Lys275Glu) c.625A>G (p.Lys209Glu) n.895A>G n.885A>G | gnomAD v4 |
2 | g.47414299A>T | CA346732783 | MSH2 | c.823A>T (p.Lys275Ter) c.625A>T (p.Lys209Ter) n.895A>T n.885A>T | dbSNP |
2 | g.47414300A= | CA2495833940 | MSH2 | c.824A= (p.Lys275=) c.626A= (p.Lys209=) n.896A= n.886A= | |
2 | g.47414300A>C | CA346732785 | MSH2 | c.824A>C (p.Lys275Thr) c.626A>C (p.Lys209Thr) n.896A>C n.886A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414300A>G | CA346732786 | MSH2 | c.824A>G (p.Lys275Arg) c.626A>G (p.Lys209Arg) n.896A>G n.886A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414300A>T | CA346732787 | MSH2 | c.824A>T (p.Lys275Met) c.626A>T (p.Lys209Met) n.896A>T n.886A>T | dbSNP |
2 | g.47414301G>A | CA425969767 | MSH2 | c.825G>A (p.Lys275=) c.627G>A (p.Lys209=) n.897G>A n.887G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414301G>C | CA346732788 | MSH2 | c.825G>C (p.Lys275Asn) c.627G>C (p.Lys209Asn) n.897G>C n.887G>C | |
2 | g.47414301G= | CA2495833941 | MSH2 | c.825G= (p.Lys275=) c.627G= (p.Lys209=) n.897G= n.887G= | |
2 | g.47414301G>T | CA346732789 | MSH2 | c.825G>T (p.Lys275Asn) c.627G>T (p.Lys209Asn) n.897G>T n.887G>T | |
2 | g.47414302T>A | CA346732790 | MSH2 | c.826T>A (p.Phe276Ile) c.628T>A (p.Phe210Ile) n.898T>A n.888T>A | ClinVar dbSNP |
2 | g.47414302T>C | CA346732792 | MSH2 | c.826T>C (p.Phe276Leu) c.628T>C (p.Phe210Leu) n.898T>C n.888T>C | |
2 | g.47414302T>G | CA346732791 | MSH2 | c.826T>G (p.Phe276Val) c.628T>G (p.Phe210Val) n.898T>G n.888T>G | ClinVar |
2 | g.47414302T= | CA2495833942 | MSH2 | c.826T= (p.Phe276=) c.628T= (p.Phe210=) n.898T= n.888T= | |
2 | g.47414306del | CA2499216018 | MSH2 | c.830del (p.Leu277Ter) c.632del (p.Leu211Ter) n.902del n.892del | ClinVar dbSNP |
2 | g.47414303T>A | CA346732793 | MSH2 | c.827T>A (p.Phe276Tyr) c.629T>A (p.Phe210Tyr) n.899T>A n.889T>A | dbSNP |
2 | g.47414303T>C | CA346732794 | MSH2 | c.827T>C (p.Phe276Ser) c.629T>C (p.Phe210Ser) n.899T>C n.889T>C | |
2 | g.47414303T>G | CA346732795 | MSH2 | c.827T>G (p.Phe276Cys) c.629T>G (p.Phe210Cys) n.899T>G n.889T>G | ClinVar dbSNP |
2 | g.47414304T>A | CA346732796 | MSH2 | c.828T>A (p.Phe276Leu) c.630T>A (p.Phe210Leu) n.900T>A n.890T>A | |
2 | g.47414304T>C | CA425969781 | MSH2 | c.828T>C (p.Phe276=) c.630T>C (p.Phe210=) n.900T>C n.890T>C | |
2 | g.47414304T>G | CA346732797 | MSH2 | c.828T>G (p.Phe276Leu) c.630T>G (p.Phe210Leu) n.900T>G n.890T>G | |
2 | g.47414305T>A | CA346732798 | MSH2 | c.829T>A (p.Leu277Ile) c.631T>A (p.Leu211Ile) n.901T>A n.891T>A | dbSNP |
2 | g.47414305T>C | CA425969784 | MSH2 | c.829T>C (p.Leu277=) c.631T>C (p.Leu211=) n.901T>C n.891T>C | |
2 | g.47414305T>G | CA346732799 | MSH2 | c.829T>G (p.Leu277Val) c.631T>G (p.Leu211Val) n.901T>G n.891T>G | |
2 | g.47414306T>A | CA16610850 | MSH2 | c.830T>A (p.Leu277Ter) c.632T>A (p.Leu211Ter) n.902T>A n.892T>A | ClinVar dbSNP |
2 | g.47414306T>C | CA346732800 | MSH2 | c.830T>C (p.Leu277Ser) c.632T>C (p.Leu211Ser) n.902T>C n.892T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414306T>G | CA022392 | MSH2 | c.830T>G (p.Leu277Ter) c.632T>G (p.Leu211Ter) n.902T>G n.892T>G | ClinVar dbSNP |
2 | g.47414306T= | CA2495833943 | MSH2 | c.830T= (p.Leu277=) c.632T= (p.Leu211=) n.902T= n.892T= | |
2 | g.47414306_47414308delinsTAG | CA2495833944 | MSH2 | c.830_832delinsTAG (p.Leu277=) c.632_634delinsTAG (p.Leu211=) n.902_904delinsTAG n.892_894delinsTAG | |
2 | g.47414307A>C | CA346732801 | MSH2 | c.831A>C (p.Leu277Phe) c.633A>C (p.Leu211Phe) n.903A>C n.893A>C | |
2 | g.47414307A>G | CA425969793 | MSH2 | c.831A>G (p.Leu277=) c.633A>G (p.Leu211=) n.903A>G n.893A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414307A>T | CA346732802 | MSH2 | c.831A>T (p.Leu277Phe) c.633A>T (p.Leu211Phe) n.903A>T n.893A>T | dbSNP |
2 | g.47414308_47414309del | CA913187889 | MSH2 | c.832_833del (p.Glu278ThrfsTer5) c.634_635del (p.Glu212ThrfsTer5) n.904_905del n.894_895del | ClinVar dbSNP |
2 | g.47414308del | CA2586969212 | MSH2 | c.832del (p.Glu278AsnfsTer14) c.634del (p.Glu212AsnfsTer14) n.904del n.894del | |
2 | g.47414308G>A | CA346732803 | MSH2 | c.832G>A (p.Glu278Lys) c.634G>A (p.Glu212Lys) n.904G>A n.894G>A | ClinVar dbSNP |
2 | g.47414308G>C | CA346732805 | MSH2 | c.832G>C (p.Glu278Gln) c.634G>C (p.Glu212Gln) n.904G>C n.894G>C | dbSNP |
2 | g.47414308G= | CA2495833945 | MSH2 | c.832G= (p.Glu278=) c.634G= (p.Glu212=) n.904G= n.894G= | |
2 | g.47414308G>T | CA346732804 | MSH2 | c.832G>T (p.Glu278Ter) c.634G>T (p.Glu212Ter) n.904G>T n.894G>T | ClinVar dbSNP |
2 | g.47414309A= | CA2495833946 | MSH2 | c.833A= (p.Glu278=) c.635A= (p.Glu212=) n.905A= n.895A= | |
2 | g.47414309A>C | CA346732806 | MSH2 | c.833A>C (p.Glu278Ala) c.635A>C (p.Glu212Ala) n.905A>C n.895A>C | dbSNP |
2 | g.47414309A>G | CA346732808 | MSH2 | c.833A>G (p.Glu278Gly) c.635A>G (p.Glu212Gly) n.905A>G n.895A>G | ClinVar dbSNP |
2 | g.47414309A>T | CA346732807 | MSH2 | c.833A>T (p.Glu278Val) c.635A>T (p.Glu212Val) n.905A>T n.895A>T | dbSNP |
2 | g.47414310A= | CA2495833947 | MSH2 | c.834A= (p.Glu278=) c.636A= (p.Glu212=) n.906A= n.896A= | |
2 | g.47414310A>C | CA346732809 | MSH2 | c.834A>C (p.Glu278Asp) c.636A>C (p.Glu212Asp) n.906A>C n.896A>C | |
2 | g.47414310A>G | CA10577955 | MSH2 | c.834A>G (p.Glu278=) c.636A>G (p.Glu212=) n.906A>G n.896A>G | ClinVar dbSNP |
2 | g.47414310A>T | CA346732810 | MSH2 | c.834A>T (p.Glu278Asp) c.636A>T (p.Glu212Asp) n.906A>T n.896A>T | dbSNP |
2 | g.47414310_47414311insT | CA2586969213 | MSH2 | c.834_835insT (p.Leu279SerfsTer5) c.636_637insT (p.Leu213SerfsTer5) n.906_907insT n.896_897insT | |
2 | g.47414311C>A | CA346732811 | MSH2 | c.835C>A (p.Leu279Ile) c.637C>A (p.Leu213Ile) n.907C>A n.897C>A | dbSNP |
2 | g.47414311C= | CA2495833948 | MSH2 | c.835C= (p.Leu279=) c.637C= (p.Leu213=) n.907C= n.897C= | |
2 | g.47414311C>G | CA022395 | MSH2 | c.835C>G (p.Leu279Val) c.637C>G (p.Leu213Val) n.907C>G n.897C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414311C>T | CA46683989 | MSH2 | c.835C>T (p.Leu279Phe) c.637C>T (p.Leu213Phe) n.907C>T n.897C>T | dbSNP |
2 | g.47414311_47414312delinsCT | CA2495833950 | MSH2 | c.835_836delinsCT (p.Leu279=) c.637_638delinsCT (p.Leu213=) n.907_908delinsCT n.897_898delinsCT | |
2 | g.47414311_47414314delinsCTCT | CA2495833949 | MSH2 | c.835_838delinsCTCT (p.Leu279=) c.637_640delinsCTCT (p.Leu213=) n.907_910delinsCTCT n.897_900delinsCTCT | |
2 | g.47414311_47414318dup | CA2739274422 | MSH2 | c.835_842dup (p.Asp282SerfsTer13) c.637_644dup (p.Asp216SerfsTer13) n.907_914dup n.897_904dup | ClinVar |
2 | g.47414312del | CA022401 | MSH2 | c.836del (p.Leu279ProfsTer13) c.638del (p.Leu213ProfsTer13) n.908del n.898del | ClinVar dbSNP |
2 | g.47414312T>A | CA346732812 | MSH2 | c.836T>A (p.Leu279His) c.638T>A (p.Leu213His) n.908T>A n.898T>A | ClinVar dbSNP |
2 | g.47414312T>C | CA46683995 | MSH2 | c.836T>C (p.Leu279Pro) c.638T>C (p.Leu213Pro) n.908T>C n.898T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414312T>G | CA346732813 | MSH2 | c.836T>G (p.Leu279Arg) c.638T>G (p.Leu213Arg) n.908T>G n.898T>G | ClinVar |
2 | g.47414312T= | CA2495833951 | MSH2 | c.836T= (p.Leu279=) c.638T= (p.Leu213=) n.908T= n.898T= | |
2 | g.47414313_47414315del | CA46684001 | MSH2 | c.837_839del (p.Leu280del) c.639_641del (p.Leu214del) n.909_911del n.899_901del | dbSNP |
2 | g.47414313C>A | CA425969824 | MSH2 | c.837C>A (p.Leu279=) c.639C>A (p.Leu213=) n.909C>A n.899C>A | dbSNP |
2 | g.47414313C= | CA2495833952 | MSH2 | c.837C= (p.Leu279=) c.639C= (p.Leu213=) n.909C= n.899C= | |
2 | g.47414313C>G | CA040865 | MSH2 | c.837C>G (p.Leu279=) c.639C>G (p.Leu213=) n.909C>G n.899C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414313C>T | CA16610801 | MSH2 | c.837C>T (p.Leu279=) c.639C>T (p.Leu213=) n.909C>T n.899C>T | ClinVar dbSNP |
2 | g.47414313_47414314delinsCT | CA2495833953 | MSH2 | c.837_838delinsCT (p.Leu279=) c.639_640delinsCT (p.Leu213=) n.909_910delinsCT n.899_900delinsCT | |
2 | g.47414318_47414507del | CA2580067008 | MSH2 | c.842_942+89del c.644_744+89del n.914_1014+89del n.904_1004+89del | ClinVar |
2 | g.47414314T>A | CA346732814 | MSH2 | c.838T>A (p.Leu280Ile) c.640T>A (p.Leu214Ile) n.910T>A n.900T>A | |
2 | g.47414314T>C | CA425969832 | MSH2 | c.838T>C (p.Leu280=) c.640T>C (p.Leu214=) n.910T>C n.900T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414314T>G | CA346732815 | MSH2 | c.838T>G (p.Leu280Val) c.640T>G (p.Leu214Val) n.910T>G n.900T>G | |
2 | g.47414314T= | CA2495833954 | MSH2 | c.838T= (p.Leu280=) c.640T= (p.Leu214=) n.910T= n.900T= | |
2 | g.47414315dup | CA022405 | MSH2 | c.839dup (p.Leu280PhefsTer4) c.641dup (p.Leu214PhefsTer4) n.911dup n.901dup | ClinVar dbSNP |
2 | g.47414315del | CA658683221 | MSH2 | c.839del (p.Leu280TyrfsTer12) c.641del (p.Leu214TyrfsTer12) n.911del n.901del | ClinVar dbSNP |
2 | g.47414315T>A | CA346732816 | MSH2 | c.839T>A (p.Leu280Ter) c.641T>A (p.Leu214Ter) n.911T>A n.901T>A | ClinVar dbSNP |
2 | g.47414315T>C | CA346732817 | MSH2 | c.839T>C (p.Leu280Ser) c.641T>C (p.Leu214Ser) n.911T>C n.901T>C | ClinVar dbSNP |
2 | g.47414315T>G | CA346732818 | MSH2 | c.839T>G (p.Leu280Ter) c.641T>G (p.Leu214Ter) n.911T>G n.901T>G | ClinVar |
2 | g.47414315T= | CA2495833956 | MSH2 | c.839T= (p.Leu280=) c.641T= (p.Leu214=) n.911T= n.901T= | |
2 | g.47414315_47414316delinsTA | CA2495833955 | MSH2 | c.839_840delinsTA (p.Leu280=) c.641_642delinsTA (p.Leu214=) n.911_912delinsTA n.901_902delinsTA | |
2 | g.47414316del | CA46684014 | MSH2 | c.840del (p.Leu280PhefsTer12) c.642del (p.Leu214PhefsTer12) n.912del n.902del | dbSNP |
2 | g.47414316A= | CA2495833957 | MSH2 | c.840A= (p.Leu280=) c.642A= (p.Leu214=) n.912A= n.902A= | |
2 | g.47414316A>C | CA346732819 | MSH2 | c.840A>C (p.Leu280Phe) c.642A>C (p.Leu214Phe) n.912A>C n.902A>C | ClinVar dbSNP |
2 | g.47414316A>G | CA425969839 | MSH2 | c.840A>G (p.Leu280=) c.642A>G (p.Leu214=) n.912A>G n.902A>G | |
2 | g.47414316A>T | CA346732820 | MSH2 | c.840A>T (p.Leu280Phe) c.642A>T (p.Leu214Phe) n.912A>T n.902A>T | dbSNP |
2 | g.47414316dup | CA2580067012 | MSH2 | c.840dup (p.Ser281IlefsTer3) c.642dup (p.Ser215IlefsTer3) n.912dup n.902dup | ClinVar |
2 | g.47414317_47414319del | CA2699275827 | MSH2 | c.841_843del (p.Ser281del) c.643_645del (p.Ser215del) n.913_915del n.903_905del | dbSNP |
2 | g.47414317del | CA2586969216 | MSH2 | c.841del (p.Ser281GlnfsTer11) c.643del (p.Ser215GlnfsTer11) n.913del n.903del | |
2 | g.47414317T>A | CA346732821 | MSH2 | c.841T>A (p.Ser281Thr) c.643T>A (p.Ser215Thr) n.913T>A n.903T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414317T>C | CA022412 | MSH2 | c.841T>C (p.Ser281Pro) c.643T>C (p.Ser215Pro) n.913T>C n.903T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414317T>G | CA346732822 | MSH2 | c.841T>G (p.Ser281Ala) c.643T>G (p.Ser215Ala) n.913T>G n.903T>G | |
2 | g.47414317T= | CA2495833958 | MSH2 | c.841T= (p.Ser281=) c.643T= (p.Ser215=) n.913T= n.903T= | |
2 | g.47414317dup | CA2586969215 | MSH2 | c.841dup (p.Ser281PhefsTer3) c.643dup (p.Ser215PhefsTer3) n.913dup n.903dup | |
2 | g.47414318C>A | CA022416 | MSH2 | c.842C>A (p.Ser281Ter) c.644C>A (p.Ser215Ter) n.914C>A n.904C>A | ClinVar dbSNP |
2 | g.47414318C= | CA2495833959 | MSH2 | c.842C= (p.Ser281=) c.644C= (p.Ser215=) n.914C= n.904C= | |
2 | g.47414318C>G | CA349474 | MSH2 | c.842C>G (p.Ser281Ter) c.644C>G (p.Ser215Ter) n.914C>G n.904C>G | ClinVar dbSNP |
2 | g.47414318C>T | CA346732823 | MSH2 | c.842C>T (p.Ser281Leu) c.644C>T (p.Ser215Leu) n.914C>T n.904C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414319A= | CA2495833960 | MSH2 | c.843A= (p.Ser281=) c.645A= (p.Ser215=) n.915A= n.905A= | |
2 | g.47414319A>C | CA425969851 | MSH2 | c.843A>C (p.Ser281=) c.645A>C (p.Ser215=) n.915A>C n.905A>C | |
2 | g.47414319A>G | CA16610774 | MSH2 | c.843A>G (p.Ser281=) c.645A>G (p.Ser215=) n.915A>G n.905A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414319A>T | CA040882 | MSH2 | c.843A>T (p.Ser281=) c.645A>T (p.Ser215=) n.915A>T n.905A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414319_47414320insT | CA2580067017 | MSH2 | c.843_844insT (p.Asp282Ter) c.645_646insT (p.Asp216Ter) n.915_916insT n.905_906insT | ClinVar |
2 | g.47414320G>A | CA346732824 | MSH2 | c.844G>A (p.Asp282Asn) c.646G>A (p.Asp216Asn) n.916G>A n.906G>A | dbSNP |
2 | g.47414320G>C | CA040894 | MSH2 | c.844G>C (p.Asp282His) c.646G>C (p.Asp216His) n.916G>C n.906G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414320G= | CA2495833962 | MSH2 | c.844G= (p.Asp282=) c.646G= (p.Asp216=) n.916G= n.906G= | |
2 | g.47414320G>T | CA346732825 | MSH2 | c.844G>T (p.Asp282Tyr) c.646G>T (p.Asp216Tyr) n.916G>T n.906G>T | dbSNP COSMIC |
2 | g.47414320_47414324delinsGATGA | CA2495833961 | MSH2 | c.844_848delinsGATGA (p.Asp282=) c.646_650delinsGATGA (p.Asp216=) n.916_920delinsGATGA n.906_910delinsGATGA | |
2 | g.47414321A= | CA2495833963 | MSH2 | c.845A= (p.Asp282=) c.647A= (p.Asp216=) n.917A= n.907A= | |
2 | g.47414321A>C | CA346732826 | MSH2 | c.845A>C (p.Asp282Ala) c.647A>C (p.Asp216Ala) n.917A>C n.907A>C | ClinVar dbSNP |
2 | g.47414321A>G | CA022423 | MSH2 | c.845A>G (p.Asp282Gly) c.647A>G (p.Asp216Gly) n.917A>G n.907A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414321A>T | CA346732827 | MSH2 | c.845A>T (p.Asp282Val) c.647A>T (p.Asp216Val) n.917A>T n.907A>T | dbSNP |
2 | g.47414321_47414324del | CA658683222 | MSH2 | c.845_848del (p.Asp282ValfsTer9) c.647_650del (p.Asp216ValfsTer9) n.917_920del n.907_910del | ClinVar dbSNP |
2 | g.47414322del | CA2697548098 | MSH2 | c.846del (p.Asp282GlufsTer10) c.648del (p.Asp216GlufsTer10) n.918del n.908del | ClinVar |
2 | g.47414322T>A | CA346732828 | MSH2 | c.846T>A (p.Asp282Glu) c.648T>A (p.Asp216Glu) n.918T>A n.908T>A | dbSNP |
2 | g.47414322T>C | CA425969872 | MSH2 | c.846T>C (p.Asp282=) c.648T>C (p.Asp216=) n.918T>C n.908T>C | ClinVar |
2 | g.47414322T>G | CA346732829 | MSH2 | c.846T>G (p.Asp282Glu) c.648T>G (p.Asp216Glu) n.918T>G n.908T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414322T= | CA2495833964 | MSH2 | c.846T= (p.Asp282=) c.648T= (p.Asp216=) n.918T= n.908T= | |
2 | g.47414323del | CA2586969217 | MSH2 | c.847del (p.Asp283IlefsTer9) c.649del (p.Asp217IlefsTer9) n.919del n.909del | |
2 | g.47414323G>A | CA346732831 | MSH2 | c.847G>A (p.Asp283Asn) c.649G>A (p.Asp217Asn) n.919G>A n.909G>A | ClinVar dbSNP |
2 | g.47414323G>C | CA346732830 | MSH2 | c.847G>C (p.Asp283His) c.649G>C (p.Asp217His) n.919G>C n.909G>C | ClinVar dbSNP |
2 | g.47414323G= | CA2495833965 | MSH2 | c.847G= (p.Asp283=) c.649G= (p.Asp217=) n.919G= n.909G= | |
2 | g.47414323G>T | CA022428 | MSH2 | c.847G>T (p.Asp283Tyr) c.649G>T (p.Asp217Tyr) n.919G>T n.909G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414324A= | CA2495833966 | MSH2 | c.848A= (p.Asp283=) c.650A= (p.Asp217=) n.920A= n.910A= | |
2 | g.47414324A>C | CA346732832 | MSH2 | c.848A>C (p.Asp283Ala) c.650A>C (p.Asp217Ala) n.920A>C n.910A>C | |
2 | g.47414324A>G | CA346732833 | MSH2 | c.848A>G (p.Asp283Gly) c.650A>G (p.Asp217Gly) n.920A>G n.910A>G | ClinVar dbSNP |
2 | g.47414324A>T | CA040911 | MSH2 | c.848A>T (p.Asp283Val) c.650A>T (p.Asp217Val) n.920A>T n.910A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414325T>A | CA346732834 | MSH2 | c.849T>A (p.Asp283Glu) c.651T>A (p.Asp217Glu) n.921T>A n.911T>A | dbSNP |
2 | g.47414325T>C | CA10577956 | MSH2 | c.849T>C (p.Asp283=) c.651T>C (p.Asp217=) n.921T>C n.911T>C | ClinVar dbSNP |
2 | g.47414325T>G | CA346732835 | MSH2 | c.849T>G (p.Asp283Glu) c.651T>G (p.Asp217Glu) n.921T>G n.911T>G | |
2 | g.47414325T= | CA2495833967 | MSH2 | c.849T= (p.Asp283=) c.651T= (p.Asp217=) n.921T= n.911T= | |
2 | g.47414326dup | CA645369200 | MSH2 | c.850dup (p.Ser284PhefsTer7) c.652dup (p.Ser218PhefsTer7) n.922dup n.912dup | ClinVar dbSNP |
2 | g.47414326del | CA2697548099 | MSH2 | c.850del (p.Ser284ProfsTer8) c.652del (p.Ser218ProfsTer8) n.922del n.912del | ClinVar |
2 | g.47414326T>A | CA346732836 | MSH2 | c.850T>A (p.Ser284Thr) c.652T>A (p.Ser218Thr) n.922T>A n.912T>A | |
2 | g.47414326T>C | CA346732838 | MSH2 | c.850T>C (p.Ser284Pro) c.652T>C (p.Ser218Pro) n.922T>C n.912T>C | |
2 | g.47414326T>G | CA346732837 | MSH2 | c.850T>G (p.Ser284Ala) c.652T>G (p.Ser218Ala) n.922T>G n.912T>G | |
2 | g.47414327C>A | CA040934 | MSH2 | c.851C>A (p.Ser284Tyr) c.653C>A (p.Ser218Tyr) n.923C>A n.913C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414327C= | CA2495833968 | MSH2 | c.851C= (p.Ser284=) c.653C= (p.Ser218=) n.923C= n.913C= | |
2 | g.47414327C>G | CA346732839 | MSH2 | c.851C>G (p.Ser284Cys) c.653C>G (p.Ser218Cys) n.923C>G n.913C>G | dbSNP |
2 | g.47414327C>T | CA346732840 | MSH2 | c.851C>T (p.Ser284Phe) c.653C>T (p.Ser218Phe) n.923C>T n.913C>T | ClinVar dbSNP |
2 | g.47414328C>A | CA425969904 | MSH2 | c.852C>A (p.Ser284=) c.654C>A (p.Ser218=) n.924C>A n.914C>A | dbSNP |
2 | g.47414328C= | CA2495833970 | MSH2 | c.852C= (p.Ser284=) c.654C= (p.Ser218=) n.924C= n.914C= | |
2 | g.47414328C>G | CA425969907 | MSH2 | c.852C>G (p.Ser284=) c.654C>G (p.Ser218=) n.924C>G n.914C>G | dbSNP |
2 | g.47414328C>T | CA425969903 | MSH2 | c.852C>T (p.Ser284=) c.654C>T (p.Ser218=) n.924C>T n.914C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414328_47414329delinsCA | CA2495833969 | MSH2 | c.852_853delinsCA (p.Ser284=) c.654_655delinsCA (p.Ser218=) n.924_925delinsCA n.914_915delinsCA | |
2 | g.47414329A>C | CA346732841 | MSH2 | c.853A>C (p.Asn285His) c.655A>C (p.Asn219His) n.925A>C n.915A>C | |
2 | g.47414329A>G | CA346732842 | MSH2 | c.853A>G (p.Asn285Asp) c.655A>G (p.Asn219Asp) n.925A>G n.915A>G | |
2 | g.47414329A>T | CA346732843 | MSH2 | c.853A>T (p.Asn285Tyr) c.655A>T (p.Asn219Tyr) n.925A>T n.915A>T | dbSNP |
2 | g.47414330del | CA022433 | MSH2 | c.854del (p.Asn285ThrfsTer7) c.656del (p.Asn219ThrfsTer7) n.926del n.916del | ClinVar dbSNP |
2 | g.47414330A= | CA2495833971 | MSH2 | c.854A= (p.Asn285=) c.656A= (p.Asn219=) n.926A= n.916A= | |
2 | g.47414330A>C | CA346732844 | MSH2 | c.854A>C (p.Asn285Thr) c.656A>C (p.Asn219Thr) n.926A>C n.916A>C | ClinVar dbSNP |
2 | g.47414330A>G | CA16611014 | MSH2 | c.854A>G (p.Asn285Ser) c.656A>G (p.Asn219Ser) n.926A>G n.916A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414330A>T | CA346732845 | MSH2 | c.854A>T (p.Asn285Ile) c.656A>T (p.Asn219Ile) n.926A>T n.916A>T | dbSNP |
2 | g.47414331C>A | CA346732846 | MSH2 | c.855C>A (p.Asn285Lys) c.657C>A (p.Asn219Lys) n.927C>A n.917C>A | dbSNP |
2 | g.47414331C= | CA2495833974 | MSH2 | c.855C= (p.Asn285=) c.657C= (p.Asn219=) n.927C= n.917C= | |
2 | g.47414331C>G | CA10577957 | MSH2 | c.855C>G (p.Asn285Lys) c.657C>G (p.Asn219Lys) n.927C>G n.917C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414331C>T | CA040947 | MSH2 | c.855C>T (p.Asn285=) c.657C>T (p.Asn219=) n.927C>T n.917C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414331_47414332delinsCT | CA2495833972 | MSH2 | c.855_856delinsCT (p.Asn285=) c.657_658delinsCT (p.Asn219=) n.927_928delinsCT n.917_918delinsCT | |
2 | g.47414331_47414340delinsCTTTGGACAG | CA2495833973 | MSH2 | c.855_864delinsCTTTGGACAG (p.Asn285=) c.657_666delinsCTTTGGACAG (p.Asn219=) n.927_936delinsCTTTGGACAG n.917_926delinsCTTTGGACAG | |
2 | g.47414332T>A | CA346732847 | MSH2 | c.856T>A (p.Phe286Ile) c.658T>A (p.Phe220Ile) n.928T>A n.918T>A | |
2 | g.47414332T>C | CA346732848 | MSH2 | c.856T>C (p.Phe286Leu) c.658T>C (p.Phe220Leu) n.928T>C n.918T>C | dbSNP |
2 | g.47414332T>G | CA346732849 | MSH2 | c.856T>G (p.Phe286Val) c.658T>G (p.Phe220Val) n.928T>G n.918T>G | |
2 | g.47414334del | CA658683223 | MSH2 | c.858del (p.Phe286LeufsTer6) c.660del (p.Phe220LeufsTer6) n.930del n.920del | ClinVar dbSNP |
2 | g.47414333_47414334del | CA2580067027 | MSH2 | c.857_858del (p.Phe286TrpfsTer4) c.659_660del (p.Phe220TrpfsTer4) n.929_930del n.919_920del | ClinVar |
2 | g.47414336_47414344del | CA349908 | MSH2 | c.860_868del (p.Gly287_Phe289del) c.662_670del (p.Gly221_Phe223del) n.932_940del n.922_930del | dbSNP |
2 | g.47414333T>A | CA346732850 | MSH2 | c.857T>A (p.Phe286Tyr) c.659T>A (p.Phe220Tyr) n.929T>A n.919T>A | dbSNP |
2 | g.47414333T>C | CA346732851 | MSH2 | c.857T>C (p.Phe286Ser) c.659T>C (p.Phe220Ser) n.929T>C n.919T>C | ClinVar dbSNP |
2 | g.47414333T>G | CA346732852 | MSH2 | c.857T>G (p.Phe286Cys) c.659T>G (p.Phe220Cys) n.929T>G n.919T>G | |
2 | g.47414333T= | CA2495833975 | MSH2 | c.857T= (p.Phe286=) c.659T= (p.Phe220=) n.929T= n.919T= | |
2 | g.47414334T>A | CA346732853 | MSH2 | c.858T>A (p.Phe286Leu) c.660T>A (p.Phe220Leu) n.930T>A n.920T>A | |
2 | g.47414334T>C | CA425969946 | MSH2 | c.858T>C (p.Phe286=) c.660T>C (p.Phe220=) n.930T>C n.920T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414334T>G | CA346732854 | MSH2 | c.858T>G (p.Phe286Leu) c.660T>G (p.Phe220Leu) n.930T>G n.920T>G | |
2 | g.47414334T= | CA2495833976 | MSH2 | c.858T= (p.Phe286=) c.660T= (p.Phe220=) n.930T= n.920T= | |
2 | g.47414335G>A | CA346732856 | MSH2 | c.859G>A (p.Gly287Arg) c.661G>A (p.Gly221Arg) n.931G>A n.921G>A | ClinVar dbSNP |
2 | g.47414335G>C | CA346732855 | MSH2 | c.859G>C (p.Gly287Arg) c.661G>C (p.Gly221Arg) n.931G>C n.921G>C | ClinVar dbSNP |
2 | g.47414335G= | CA2495833977 | MSH2 | c.859G= (p.Gly287=) c.661G= (p.Gly221=) n.931G= n.921G= | |
2 | g.47414335G>T | CA022437 | MSH2 | c.859G>T (p.Gly287Ter) c.661G>T (p.Gly221Ter) n.931G>T n.921G>T | ClinVar dbSNP |
2 | g.47414336dup | CA186235 | MSH2 | c.860dup (p.Gln288ThrfsTer3) c.662dup (p.Gln222ThrfsTer3) n.932dup n.922dup | ClinVar dbSNP |
2 | g.47414336G>A | CA346732857 | MSH2 | c.860G>A (p.Gly287Glu) c.662G>A (p.Gly221Glu) n.932G>A n.922G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414336G>C | CA022444 | MSH2 | c.860G>C (p.Gly287Ala) c.662G>C (p.Gly221Ala) n.932G>C n.922G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414336G= | CA2495833978 | MSH2 | c.860G= (p.Gly287=) c.662G= (p.Gly221=) n.932G= n.922G= | |
2 | g.47414336G>T | CA346732858 | MSH2 | c.860G>T (p.Gly287Val) c.662G>T (p.Gly221Val) n.932G>T n.922G>T | dbSNP gnomAD v4 |
2 | g.47414337A>C | CA425969965 | MSH2 | c.861A>C (p.Gly287=) c.663A>C (p.Gly221=) n.933A>C n.923A>C | dbSNP |
2 | g.47414337A>G | CA425969963 | MSH2 | c.861A>G (p.Gly287=) c.663A>G (p.Gly221=) n.933A>G n.923A>G | ClinVar gnomAD v4 |
2 | g.47414337A>T | CA425969962 | MSH2 | c.861A>T (p.Gly287=) c.663A>T (p.Gly221=) n.933A>T n.923A>T | dbSNP |
2 | g.47414338C>A | CA346732859 | MSH2 | c.862C>A (p.Gln288Lys) c.664C>A (p.Gln222Lys) n.934C>A n.924C>A | dbSNP |
2 | g.47414338C= | CA2495833979 | MSH2 | c.862C= (p.Gln288=) c.664C= (p.Gln222=) n.934C= n.924C= | |
2 | g.47414338C>G | CA346732860 | MSH2 | c.862C>G (p.Gln288Glu) c.664C>G (p.Gln222Glu) n.934C>G n.924C>G | ClinVar dbSNP |
2 | g.47414338C>T | CA022450 | MSH2 | c.862C>T (p.Gln288Ter) c.664C>T (p.Gln222Ter) n.934C>T n.924C>T | ClinVar dbSNP |
2 | g.47414338_47414339delinsCA | CA2495833980 | MSH2 | c.862_863delinsCA (p.Gln288=) c.664_665delinsCA (p.Gln222=) n.934_935delinsCA n.924_925delinsCA | |
2 | g.47414339del | CA022453 | MSH2 | c.863del (p.Gln288ArgfsTer4) c.665del (p.Gln222ArgfsTer4) n.935del n.925del | ClinVar dbSNP |
2 | g.47414339A= | CA2495833981 | MSH2 | c.863A= (p.Gln288=) c.665A= (p.Gln222=) n.935A= n.925A= | |
2 | g.47414339A>C | CA346732861 | MSH2 | c.863A>C (p.Gln288Pro) c.665A>C (p.Gln222Pro) n.935A>C n.925A>C | ClinVar |
2 | g.47414339A>G | CA346732862 | MSH2 | c.863A>G (p.Gln288Arg) c.665A>G (p.Gln222Arg) n.935A>G n.925A>G | ClinVar dbSNP gnomAD v2 |
2 | g.47414339A>T | CA346732863 | MSH2 | c.863A>T (p.Gln288Leu) c.665A>T (p.Gln222Leu) n.935A>T n.925A>T | dbSNP |
2 | g.47414340G>A | CA425969980 | MSH2 | c.864G>A (p.Gln288=) c.666G>A (p.Gln222=) n.936G>A n.926G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414340G>C | CA346732864 | MSH2 | c.864G>C (p.Gln288His) c.666G>C (p.Gln222His) n.936G>C n.926G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414340G= | CA2495833982 | MSH2 | c.864G= (p.Gln288=) c.666G= (p.Gln222=) n.936G= n.926G= | |
2 | g.47414340G>T | CA346732865 | MSH2 | c.864G>T (p.Gln288His) c.666G>T (p.Gln222His) n.936G>T n.926G>T | |
2 | g.47414340_47414341delinsGT | CA2495833983 | MSH2 | c.864_865delinsGT (p.Gln288=) c.666_667delinsGT (p.Gln222=) n.936_937delinsGT n.926_927delinsGT | |
2 | g.47414341T>A | CA346732866 | MSH2 | c.865T>A (p.Phe289Ile) c.667T>A (p.Phe223Ile) n.937T>A n.927T>A | dbSNP |
2 | g.47414341T>C | CA16611016 | MSH2 | c.865T>C (p.Phe289Leu) c.667T>C (p.Phe223Leu) n.937T>C n.927T>C | ClinVar dbSNP |
2 | g.47414341T>G | CA346732867 | MSH2 | c.865T>G (p.Phe289Val) c.667T>G (p.Phe223Val) n.937T>G n.927T>G | |
2 | g.47414341T= | CA2495833984 | MSH2 | c.865T= (p.Phe289=) c.667T= (p.Phe223=) n.937T= n.927T= | |
2 | g.47414343dup | CA2580067034 | MSH2 | c.867dup (p.Glu290Ter) c.669dup (p.Glu224Ter) n.939dup n.929dup | ClinVar |
2 | g.47414342_47414343dup | CA1139656933 | MSH2 | c.866_867dup (p.Glu290LeufsTer3) c.668_669dup (p.Glu224LeufsTer3) n.938_939dup n.928_929dup | ClinVar dbSNP |
2 | g.47414343del | CA916080253 | MSH2 | c.867del (p.Phe289LeufsTer3) c.669del (p.Phe223LeufsTer3) n.939del n.929del | ClinVar dbSNP |
2 | g.47414342T>A | CA346732868 | MSH2 | c.866T>A (p.Phe289Tyr) c.668T>A (p.Phe223Tyr) n.938T>A n.928T>A | |
2 | g.47414342T>C | CA346732869 | MSH2 | c.866T>C (p.Phe289Ser) c.668T>C (p.Phe223Ser) n.938T>C n.928T>C | |
2 | g.47414342T>G | CA346732870 | MSH2 | c.866T>G (p.Phe289Cys) c.668T>G (p.Phe223Cys) n.938T>G n.928T>G | |
2 | g.47414342_47414347delinsTTGAAC | CA2495833985 | MSH2 | c.866_871delinsTTGAAC (p.Phe289=) c.668_673delinsTTGAAC (p.Phe223=) n.938_943delinsTTGAAC n.928_933delinsTTGAAC | |
2 | g.47414343T>A | CA346732872 | MSH2 | c.867T>A (p.Phe289Leu) c.669T>A (p.Phe223Leu) n.939T>A n.929T>A | |
2 | g.47414343T>C | CA337775 | MSH2 | c.867T>C (p.Phe289=) c.669T>C (p.Phe223=) n.939T>C n.929T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414343T>G | CA346732871 | MSH2 | c.867T>G (p.Phe289Leu) c.669T>G (p.Phe223Leu) n.939T>G n.929T>G | |
2 | g.47414343T= | CA2495833986 | MSH2 | c.867T= (p.Phe289=) c.669T= (p.Phe223=) n.939T= n.929T= | |
2 | g.47414346_47414350del | CA645369207 | MSH2 | c.870_874del (p.Glu290AspfsTer4) c.672_676del (p.Glu224AspfsTer4) n.942_946del n.932_936del | ClinVar dbSNP |
2 | g.47414344G>A | CA346732873 | MSH2 | c.868G>A (p.Glu290Lys) c.670G>A (p.Glu224Lys) n.940G>A n.930G>A | dbSNP |
2 | g.47414344G>C | CA346732874 | MSH2 | c.868G>C (p.Glu290Gln) c.670G>C (p.Glu224Gln) n.940G>C n.930G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414344G= | CA2495833987 | MSH2 | c.868G= (p.Glu290=) c.670G= (p.Glu224=) n.940G= n.930G= | |
2 | g.47414344G>T | CA022458 | MSH2 | c.868G>T (p.Glu290Ter) c.670G>T (p.Glu224Ter) n.940G>T n.930G>T | ClinVar dbSNP |
2 | g.47414344_47414345del | CA2580067039 | MSH2 | c.868_869del (p.Glu290ThrfsTer5) c.670_671del (p.Glu224ThrfsTer5) n.940_941del n.930_931del | ClinVar |
2 | g.47414345A>C | CA346732875 | MSH2 | c.869A>C (p.Glu290Ala) c.671A>C (p.Glu224Ala) n.941A>C n.931A>C | |
2 | g.47414345A>G | CA346732876 | MSH2 | c.869A>G (p.Glu290Gly) c.671A>G (p.Glu224Gly) n.941A>G n.931A>G | ClinVar gnomAD v4 |
2 | g.47414345A>T | CA346732877 | MSH2 | c.869A>T (p.Glu290Val) c.671A>T (p.Glu224Val) n.941A>T n.931A>T | dbSNP |
2 | g.47414346del | CA2586969219 | MSH2 | c.870del (p.Glu290AspfsTer2) c.672del (p.Glu224AspfsTer2) n.942del n.932del | |
2 | g.47414345_47414349delinsAACTG | CA2495833988 | MSH2 | c.869_873delinsAACTG (p.Glu290=) c.671_675delinsAACTG (p.Glu224=) n.941_945delinsAACTG n.931_935delinsAACTG | |
2 | g.47414346A>C | CA346732879 | MSH2 | c.870A>C (p.Glu290Asp) c.672A>C (p.Glu224Asp) n.942A>C n.932A>C | |
2 | g.47414346A>G | CA425970011 | MSH2 | c.870A>G (p.Glu290=) c.672A>G (p.Glu224=) n.942A>G n.932A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414346A>T | CA346732878 | MSH2 | c.870A>T (p.Glu290Asp) c.672A>T (p.Glu224Asp) n.942A>T n.932A>T | ClinVar dbSNP |
2 | g.47414346_47414347delinsAC | CA2495833989 | MSH2 | c.870_871delinsAC (p.Glu290=) c.672_673delinsAC (p.Glu224=) n.942_943delinsAC n.932_933delinsAC | |
2 | g.47414349_47414352del | CA022463 | MSH2 | c.873_876del (p.Thr292LeufsTer8) c.675_678del (p.Thr226LeufsTer8) n.945_948del n.935_938del | ClinVar dbSNP |
2 | g.47414347del | CA16617566 | MSH2 | c.871del (p.Leu291Ter) c.673del (p.Leu225Ter) n.943del n.933del | ClinVar dbSNP |
2 | g.47414347C>A | CA346732880 | MSH2 | c.871C>A (p.Leu291Met) c.673C>A (p.Leu225Met) n.943C>A n.933C>A | dbSNP |
2 | g.47414347C= | CA2495833990 | MSH2 | c.871C= (p.Leu291=) c.673C= (p.Leu225=) n.943C= n.933C= | |
2 | g.47414347C>G | CA10582005 | MSH2 | c.871C>G (p.Leu291Val) c.673C>G (p.Leu225Val) n.943C>G n.933C>G | ClinVar dbSNP |
2 | g.47414347C>T | CA425970021 | MSH2 | c.871C>T (p.Leu291=) c.673C>T (p.Leu225=) n.943C>T n.933C>T | dbSNP |
2 | g.47414347_47414348dup | CA2695200780 | MSH2 | c.871_872dup (p.Thr292Ter) c.673_674dup (p.Thr226Ter) n.943_944dup n.933_934dup | ClinVar |
2 | g.47414348T>A | CA346732881 | MSH2 | c.872T>A (p.Leu291Gln) c.674T>A (p.Leu225Gln) n.944T>A n.934T>A | |
2 | g.47414348T>C | CA346732882 | MSH2 | c.872T>C (p.Leu291Pro) c.674T>C (p.Leu225Pro) n.944T>C n.934T>C | |
2 | g.47414348T>G | CA346732883 | MSH2 | c.872T>G (p.Leu291Arg) c.674T>G (p.Leu225Arg) n.944T>G n.934T>G | |
2 | g.47414349del | CA2580067041 | MSH2 | c.873del (p.Thr292LeufsTer9) c.675del (p.Thr226LeufsTer9) n.945del n.935del | ClinVar |
2 | g.47414349G>A | CA425970026 | MSH2 | c.873G>A (p.Leu291=) c.675G>A (p.Leu225=) n.945G>A n.935G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414349G>C | CA425970028 | MSH2 | c.873G>C (p.Leu291=) c.675G>C (p.Leu225=) n.945G>C n.935G>C | dbSNP |
2 | g.47414349G>T | CA425970030 | MSH2 | c.873G>T (p.Leu291=) c.675G>T (p.Leu225=) n.945G>T n.935G>T | dbSNP |
2 | g.47414349_47414351delinsGAC | CA2495833991 | MSH2 | c.873_875delinsGAC (p.Leu291=) c.675_677delinsGAC (p.Leu225=) n.945_947delinsGAC n.935_937delinsGAC | |
2 | g.47414350A= | CA2495833992 | MSH2 | c.874A= (p.Thr292=) c.676A= (p.Thr226=) n.946A= n.936A= | |
2 | g.47414350A>C | CA346732885 | MSH2 | c.874A>C (p.Thr292Pro) c.676A>C (p.Thr226Pro) n.946A>C n.936A>C | ClinVar dbSNP |
2 | g.47414350A>G | CA346732884 | MSH2 | c.874A>G (p.Thr292Ala) c.676A>G (p.Thr226Ala) n.946A>G n.936A>G | ClinVar dbSNP |
2 | g.47414350A>T | CA022468 | MSH2 | c.874A>T (p.Thr292Ser) c.676A>T (p.Thr226Ser) n.946A>T n.936A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414350_47414351del | CA915943891 | MSH2 | c.874_875del (p.Thr292TyrfsTer3) c.676_677del (p.Thr226TyrfsTer3) n.946_947del n.936_937del | ClinVar dbSNP |
2 | g.47414351C>A | CA346732886 | MSH2 | c.875C>A (p.Thr292Asn) c.677C>A (p.Thr226Asn) n.947C>A n.937C>A | dbSNP |
2 | g.47414351C= | CA2495833993 | MSH2 | c.875C= (p.Thr292=) c.677C= (p.Thr226=) n.947C= n.937C= | |
2 | g.47414351C>G | CA346732887 | MSH2 | c.875C>G (p.Thr292Ser) c.677C>G (p.Thr226Ser) n.947C>G n.937C>G | dbSNP |
2 | g.47414351C>T | CA346732888 | MSH2 | c.875C>T (p.Thr292Ile) c.677C>T (p.Thr226Ile) n.947C>T n.937C>T | ClinVar dbSNP |
2 | g.47414352T>A | CA425970043 | MSH2 | c.876T>A (p.Thr292=) c.678T>A (p.Thr226=) n.948T>A n.938T>A | dbSNP |
2 | g.47414352T>C | CA425970044 | MSH2 | c.876T>C (p.Thr292=) c.678T>C (p.Thr226=) n.948T>C n.938T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414352T>G | CA425970047 | MSH2 | c.876T>G (p.Thr292=) c.678T>G (p.Thr226=) n.948T>G n.938T>G | dbSNP |
2 | g.47414352T= | CA2495833994 | MSH2 | c.876T= (p.Thr292=) c.678T= (p.Thr226=) n.948T= n.938T= | |
2 | g.47414352dup | CA16617567 | MSH2 | c.876dup (p.Thr293TyrfsTer3) c.678dup (p.Thr227TyrfsTer3) n.948dup n.938dup | ClinVar dbSNP |
2 | g.47414352_47414353insC | CA658760379 | MSH2 | c.876_877insC (p.Thr293HisfsTer3) c.678_679insC (p.Thr227HisfsTer3) n.948_949insC n.938_939insC | |
2 | g.47414353A= | CA2495833995 | MSH2 | c.877A= (p.Thr293=) c.679A= (p.Thr227=) n.949A= n.939A= | |
2 | g.47414353A>C | CA346732889 | MSH2 | c.877A>C (p.Thr293Pro) c.679A>C (p.Thr227Pro) n.949A>C n.939A>C | dbSNP gnomAD v4 |
2 | g.47414353A>G | CA346732890 | MSH2 | c.877A>G (p.Thr293Ala) c.679A>G (p.Thr227Ala) n.949A>G n.939A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414353A>T | CA346732891 | MSH2 | c.877A>T (p.Thr293Ser) c.679A>T (p.Thr227Ser) n.949A>T n.939A>T | dbSNP |
2 | g.47414354C>A | CA346732892 | MSH2 | c.878C>A (p.Thr293Asn) c.680C>A (p.Thr227Asn) n.950C>A n.940C>A | |
2 | g.47414354C= | CA2495833997 | MSH2 | c.878C= (p.Thr293=) c.680C= (p.Thr227=) n.950C= n.940C= | |
2 | g.47414354C>G | CA346732893 | MSH2 | c.878C>G (p.Thr293Ser) c.680C>G (p.Thr227Ser) n.950C>G n.940C>G | |
2 | g.47414354C>T | CA346732894 | MSH2 | c.878C>T (p.Thr293Ile) c.680C>T (p.Thr227Ile) n.950C>T n.940C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47414354_47414356delinsCTT | CA2495833996 | MSH2 | c.878_880delinsCTT (p.Thr293=) c.680_682delinsCTT (p.Thr227=) n.950_952delinsCTT n.940_942delinsCTT | |
2 | g.47414355T>A | CA425970057 | MSH2 | c.879T>A (p.Thr293=) c.681T>A (p.Thr227=) n.951T>A n.941T>A | |
2 | g.47414355T>C | CA425970059 | MSH2 | c.879T>C (p.Thr293=) c.681T>C (p.Thr227=) n.951T>C n.941T>C | dbSNP |
2 | g.47414355T>G | CA425970061 | MSH2 | c.879T>G (p.Thr293=) c.681T>G (p.Thr227=) n.951T>G n.941T>G | |
2 | g.47414355delinsGTA | CA2580067047 | MSH2 | c.879delinsGTA (p.Phe294TyrfsTer8) c.681delinsGTA (p.Phe228TyrfsTer8) n.951delinsGTA n.941delinsGTA | ClinVar |
2 | g.47414358dup | CA2586969222 | MSH2 | c.882dup (p.Asp295Ter) c.684dup (p.Asp229Ter) n.954dup n.944dup | |
2 | g.47414358del | CA913187894 | MSH2 | c.882del (p.Phe294LeufsTer7) c.684del (p.Phe228LeufsTer7) n.954del n.944del | ClinVar dbSNP |
2 | g.47414357_47414358del | CA022473 | MSH2 | c.881_882del (p.Phe294Ter) c.683_684del (p.Phe228Ter) n.953_954del n.943_944del | ClinVar dbSNP |
2 | g.47414356_47414363dup | CA2499216026 | MSH2 | c.880_887dup (p.Ser297LeufsTer7) c.682_689dup (p.Ser231LeufsTer7) n.952_959dup n.942_949dup | ClinVar dbSNP |
2 | g.47414356T>A | CA346732895 | MSH2 | c.880T>A (p.Phe294Ile) c.682T>A (p.Phe228Ile) n.952T>A n.942T>A | |
2 | g.47414356T>C | CA346732896 | MSH2 | c.880T>C (p.Phe294Leu) c.682T>C (p.Phe228Leu) n.952T>C n.942T>C | dbSNP |
2 | g.47414356T>G | CA346732897 | MSH2 | c.880T>G (p.Phe294Val) c.682T>G (p.Phe228Val) n.952T>G n.942T>G | |
2 | g.47414356_47414357insA | CA2695200781 | MSH2 | c.880_881insA (p.Phe294TyrfsTer2) c.682_683insA (p.Phe228TyrfsTer2) n.952_953insA n.942_943insA | ClinVar |
2 | g.47414357T>A | CA346732900 | MSH2 | c.881T>A (p.Phe294Tyr) c.683T>A (p.Phe228Tyr) n.953T>A n.943T>A | |
2 | g.47414357T>C | CA346732898 | MSH2 | c.881T>C (p.Phe294Ser) c.683T>C (p.Phe228Ser) n.953T>C n.943T>C | ClinVar dbSNP |
2 | g.47414357T>G | CA346732899 | MSH2 | c.881T>G (p.Phe294Cys) c.683T>G (p.Phe228Cys) n.953T>G n.943T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414357T= | CA2495833998 | MSH2 | c.881T= (p.Phe294=) c.683T= (p.Phe228=) n.953T= n.943T= | |
2 | g.47414358T>A | CA346732902 | MSH2 | c.882T>A (p.Phe294Leu) c.684T>A (p.Phe228Leu) n.954T>A n.944T>A | dbSNP |
2 | g.47414358T>C | CA425970074 | MSH2 | c.882T>C (p.Phe294=) c.684T>C (p.Phe228=) n.954T>C n.944T>C | dbSNP |
2 | g.47414358T>G | CA346732901 | MSH2 | c.882T>G (p.Phe294Leu) c.684T>G (p.Phe228Leu) n.954T>G n.944T>G | |
2 | g.47414358T= | CA2495833999 | MSH2 | c.882T= (p.Phe294=) c.684T= (p.Phe228=) n.954T= n.944T= | |
2 | g.47414359G>A | CA346732905 | MSH2 | c.883G>A (p.Asp295Asn) c.685G>A (p.Asp229Asn) n.955G>A n.945G>A | dbSNP |
2 | g.47414359G>C | CA346732903 | MSH2 | c.883G>C (p.Asp295His) c.685G>C (p.Asp229His) n.955G>C n.945G>C | dbSNP |
2 | g.47414359G>T | CA346732904 | MSH2 | c.883G>T (p.Asp295Tyr) c.685G>T (p.Asp229Tyr) n.955G>T n.945G>T | ClinVar dbSNP |
2 | g.47414360A>C | CA346732906 | MSH2 | c.884A>C (p.Asp295Ala) c.686A>C (p.Asp229Ala) n.956A>C n.946A>C | ClinVar gnomAD v4 |
2 | g.47414360A>G | CA346732907 | MSH2 | c.884A>G (p.Asp295Gly) c.686A>G (p.Asp229Gly) n.956A>G n.946A>G | dbSNP |
2 | g.47414360A>T | CA346732908 | MSH2 | c.884A>T (p.Asp295Val) c.686A>T (p.Asp229Val) n.956A>T n.946A>T | |
2 | g.47414361C>A | CA346732909 | MSH2 | c.885C>A (p.Asp295Glu) c.687C>A (p.Asp229Glu) n.957C>A n.947C>A | dbSNP |
2 | g.47414361C= | CA2495834000 | MSH2 | c.885C= (p.Asp295=) c.687C= (p.Asp229=) n.957C= n.947C= | |
2 | g.47414361C>G | CA041012 | MSH2 | c.885C>G (p.Asp295Glu) c.687C>G (p.Asp229Glu) n.957C>G n.947C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414361C>T | CA16604232 | MSH2 | c.885C>T (p.Asp295=) c.687C>T (p.Asp229=) n.957C>T n.947C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414362T>A | CA346732910 | MSH2 | c.886T>A (p.Phe296Ile) c.688T>A (p.Phe230Ile) n.958T>A n.948T>A | |
2 | g.47414362T>C | CA346732911 | MSH2 | c.886T>C (p.Phe296Leu) c.688T>C (p.Phe230Leu) n.958T>C n.948T>C | ClinVar dbSNP |
2 | g.47414362T>G | CA346732912 | MSH2 | c.886T>G (p.Phe296Val) c.688T>G (p.Phe230Val) n.958T>G n.948T>G | |
2 | g.47414363del | CA913189183 | MSH2 | c.887del (p.Phe296SerfsTer5) c.689del (p.Phe230SerfsTer5) n.959del n.949del | ClinVar |
2 | g.47414362_47414367delinsTTCAGC | CA2495834001 | MSH2 | c.886_891delinsTTCAGC (p.Phe296=) c.688_693delinsTTCAGC (p.Phe230=) n.958_963delinsTTCAGC n.948_953delinsTTCAGC | |
2 | g.47414363T>A | CA346732913 | MSH2 | c.887T>A (p.Phe296Tyr) c.689T>A (p.Phe230Tyr) n.959T>A n.949T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414363T>C | CA346732914 | MSH2 | c.887T>C (p.Phe296Ser) c.689T>C (p.Phe230Ser) n.959T>C n.949T>C | ClinVar dbSNP |
2 | g.47414363T>G | CA346732915 | MSH2 | c.887T>G (p.Phe296Cys) c.689T>G (p.Phe230Cys) n.959T>G n.949T>G | ClinVar |
2 | g.47414363T= | CA2495834003 | MSH2 | c.887T= (p.Phe296=) c.689T= (p.Phe230=) n.959T= n.949T= | |
2 | g.47414363_47414364delinsTC | CA2495834002 | MSH2 | c.887_888delinsTC (p.Phe296=) c.689_690delinsTC (p.Phe230=) n.959_960delinsTC n.949_950delinsTC | |
2 | g.47414363_47414367delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT | CA915943892 | MSH2 | c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe296TyrfsTer6) c.689_693delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe230TyrfsTer6) n.959_963delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT n.949_953delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT | ClinVar dbSNP |
2 | g.47414364del | CA022475 | MSH2 | c.888del (p.Phe296LeufsTer5) c.690del (p.Phe230LeufsTer5) n.960del n.950del | ClinVar dbSNP |
2 | g.47414364C>A | CA346732916 | MSH2 | c.888C>A (p.Phe296Leu) c.690C>A (p.Phe230Leu) n.960C>A n.950C>A | dbSNP |
2 | g.47414364C= | CA2495834004 | MSH2 | c.888C= (p.Phe296=) c.690C= (p.Phe230=) n.960C= n.950C= | |
2 | g.47414364C>G | CA10577958 | MSH2 | c.888C>G (p.Phe296Leu) c.690C>G (p.Phe230Leu) n.960C>G n.950C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414364C>T | CA425970107 | MSH2 | c.888C>T (p.Phe296=) c.690C>T (p.Phe230=) n.960C>T n.950C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47414365A= | CA2495834005 | MSH2 | c.889A= (p.Ser297=) c.691A= (p.Ser231=) n.961A= n.951A= | |
2 | g.47414365A>C | CA346732917 | MSH2 | c.889A>C (p.Ser297Arg) c.691A>C (p.Ser231Arg) n.961A>C n.951A>C | |
2 | g.47414365A>G | CA346732918 | MSH2 | c.889A>G (p.Ser297Gly) c.691A>G (p.Ser231Gly) n.961A>G n.951A>G | ClinVar dbSNP |
2 | g.47414365A>T | CA346732919 | MSH2 | c.889A>T (p.Ser297Cys) c.691A>T (p.Ser231Cys) n.961A>T n.951A>T | dbSNP |
2 | g.47414366G>A | CA346732920 | MSH2 | c.890G>A (p.Ser297Asn) c.692G>A (p.Ser231Asn) n.962G>A n.952G>A | ClinVar dbSNP |
2 | g.47414366G>C | CA346732921 | MSH2 | c.890G>C (p.Ser297Thr) c.692G>C (p.Ser231Thr) n.962G>C n.952G>C | |
2 | g.47414366G= | CA2495834006 | MSH2 | c.890G= (p.Ser297=) c.692G= (p.Ser231=) n.962G= n.952G= | |
2 | g.47414366G>T | CA346732922 | MSH2 | c.890G>T (p.Ser297Ile) c.692G>T (p.Ser231Ile) n.962G>T n.952G>T | gnomAD v4 |
2 | g.47414367C>A | CA346732923 | MSH2 | c.891C>A (p.Ser297Arg) c.693C>A (p.Ser231Arg) n.963C>A n.953C>A | dbSNP |
2 | g.47414367C= | CA2495834007 | MSH2 | c.891C= (p.Ser297=) c.693C= (p.Ser231=) n.963C= n.953C= | |
2 | g.47414367C>G | CA10584210 | MSH2 | c.891C>G (p.Ser297Arg) c.693C>G (p.Ser231Arg) n.963C>G n.953C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414367C>T | CA425970121 | MSH2 | c.891C>T (p.Ser297=) c.693C>T (p.Ser231=) n.963C>T n.953C>T | ClinVar dbSNP |
2 | g.47414368C>A | CA346732924 | MSH2 | c.892C>A (p.Gln298Lys) c.694C>A (p.Gln232Lys) n.964C>A n.954C>A | dbSNP |
2 | g.47414368C= | CA2495834008 | MSH2 | c.892C= (p.Gln298=) c.694C= (p.Gln232=) n.964C= n.954C= | |
2 | g.47414368C>G | CA346732925 | MSH2 | c.892C>G (p.Gln298Glu) c.694C>G (p.Gln232Glu) n.964C>G n.954C>G | dbSNP |
2 | g.47414368C>T | CA022486 | MSH2 | c.892C>T (p.Gln298Ter) c.694C>T (p.Gln232Ter) n.964C>T n.954C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47414369A= | CA2495834009 | MSH2 | c.893A= (p.Gln298=) c.695A= (p.Gln232=) n.965A= n.955A= | |
2 | g.47414369A>C | CA46684157 | MSH2 | c.893A>C (p.Gln298Pro) c.695A>C (p.Gln232Pro) n.965A>C n.955A>C | dbSNP |
2 | g.47414369A>G | CA346732927 | MSH2 | c.893A>G (p.Gln298Arg) c.695A>G (p.Gln232Arg) n.965A>G n.955A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414369A>T | CA346732926 | MSH2 | c.893A>T (p.Gln298Leu) c.695A>T (p.Gln232Leu) n.965A>T n.955A>T | dbSNP |
2 | g.47414370G>A | CA425970137 | MSH2 | c.894G>A (p.Gln298=) c.696G>A (p.Gln232=) n.966G>A n.956G>A | ClinVar dbSNP |
2 | g.47414370G>C | CA022491 | MSH2 | c.894G>C (p.Gln298His) c.696G>C (p.Gln232His) n.966G>C n.956G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414370G= | CA2495834010 | MSH2 | c.894G= (p.Gln298=) c.696G= (p.Gln232=) n.966G= n.956G= | |
2 | g.47414370G>T | CA346732928 | MSH2 | c.894G>T (p.Gln298His) c.696G>T (p.Gln232His) n.966G>T n.956G>T | ClinVar |
2 | g.47414371T>A | CA346732929 | MSH2 | c.895T>A (p.Tyr299Asn) c.697T>A (p.Tyr233Asn) n.967T>A n.957T>A | ClinVar dbSNP |
2 | g.47414371T>C | CA346732930 | MSH2 | c.895T>C (p.Tyr299His) c.697T>C (p.Tyr233His) n.967T>C n.957T>C | ClinVar dbSNP COSMIC |
2 | g.47414371T>G | CA346732931 | MSH2 | c.895T>G (p.Tyr299Asp) c.697T>G (p.Tyr233Asp) n.967T>G n.957T>G | dbSNP |
2 | g.47414374_47414375dup | CA022502 | MSH2 | c.898_899dup (p.Met300IlefsTer2) c.700_701dup (p.Met234IlefsTer2) n.970_971dup n.960_961dup | ClinVar dbSNP |
2 | g.47414372A= | CA2495834011 | MSH2 | c.896A= (p.Tyr299=) c.698A= (p.Tyr233=) n.968A= n.958A= | |
2 | g.47414372A>C | CA346732934 | MSH2 | c.896A>C (p.Tyr299Ser) c.698A>C (p.Tyr233Ser) n.968A>C n.958A>C | |
2 | g.47414372A>G | CA346732933 | MSH2 | c.896A>G (p.Tyr299Cys) c.698A>G (p.Tyr233Cys) n.968A>G n.958A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414372A>T | CA346732932 | MSH2 | c.896A>T (p.Tyr299Phe) c.698A>T (p.Tyr233Phe) n.968A>T n.958A>T | dbSNP |
2 | g.47414373T>A | CA346732935 | MSH2 | c.897T>A (p.Tyr299Ter) c.699T>A (p.Tyr233Ter) n.969T>A n.959T>A | ClinVar dbSNP |
2 | g.47414373T>C | CA425970155 | MSH2 | c.897T>C (p.Tyr299=) c.699T>C (p.Tyr233=) n.969T>C n.959T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414373T>G | CA10584211 | MSH2 | c.897T>G (p.Tyr299Ter) c.699T>G (p.Tyr233Ter) n.969T>G n.959T>G | ClinVar dbSNP |
2 | g.47414373T= | CA2495834012 | MSH2 | c.897T= (p.Tyr299=) c.699T= (p.Tyr233=) n.969T= n.959T= | |
2 | g.47414374A= | CA2495834013 | MSH2 | c.898A= (p.Met300=) c.700A= (p.Met234=) n.970A= n.960A= | |
2 | g.47414374A>C | CA346732936 | MSH2 | c.898A>C (p.Met300Leu) c.700A>C (p.Met234Leu) n.970A>C n.960A>C | |
2 | g.47414374A>G | CA022496 | MSH2 | c.898A>G (p.Met300Val) c.700A>G (p.Met234Val) n.970A>G n.960A>G | ClinVar dbSNP |
2 | g.47414374A>T | CA346732937 | MSH2 | c.898A>T (p.Met300Leu) c.700A>T (p.Met234Leu) n.970A>T n.960A>T | dbSNP |
2 | g.47414375T>A | CA346732938 | MSH2 | c.899T>A (p.Met300Lys) c.701T>A (p.Met234Lys) n.971T>A n.961T>A | dbSNP |
2 | g.47414375T>C | CA346732940 | MSH2 | c.899T>C (p.Met300Thr) c.701T>C (p.Met234Thr) n.971T>C n.961T>C | dbSNP |
2 | g.47414375T>G | CA346732939 | MSH2 | c.899T>G (p.Met300Arg) c.701T>G (p.Met234Arg) n.971T>G n.961T>G | |
2 | g.47414376G>A | CA022513 | MSH2 | c.900G>A (p.Met300Ile) c.702G>A (p.Met234Ile) n.972G>A n.962G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414376G>C | CA346732941 | MSH2 | c.900G>C (p.Met300Ile) c.702G>C (p.Met234Ile) n.972G>C n.962G>C | dbSNP |
2 | g.47414376G= | CA2495834014 | MSH2 | c.900G= (p.Met300=) c.702G= (p.Met234=) n.972G= n.962G= | |
2 | g.47414376G>T | CA346732942 | MSH2 | c.900G>T (p.Met300Ile) c.702G>T (p.Met234Ile) n.972G>T n.962G>T | ClinVar dbSNP |
2 | g.47414377A= | CA2495834015 | MSH2 | c.901A= (p.Lys301=) c.703A= (p.Lys235=) n.973A= n.963A= | |
2 | g.47414377A>C | CA346732943 | MSH2 | c.901A>C (p.Lys301Gln) c.703A>C (p.Lys235Gln) n.973A>C n.963A>C | ClinVar |
2 | g.47414377A>G | CA346732944 | MSH2 | c.901A>G (p.Lys301Glu) c.703A>G (p.Lys235Glu) n.973A>G n.963A>G | |
2 | g.47414377A>T | CA022518 | MSH2 | c.901A>T (p.Lys301Ter) c.703A>T (p.Lys235Ter) n.973A>T n.963A>T | ClinVar dbSNP |
2 | g.47414378A>C | CA346732945 | MSH2 | c.902A>C (p.Lys301Thr) c.704A>C (p.Lys235Thr) n.974A>C n.964A>C | |
2 | g.47414378A>G | CA346732946 | MSH2 | c.902A>G (p.Lys301Arg) c.704A>G (p.Lys235Arg) n.974A>G n.964A>G | ClinVar |
2 | g.47414378A>T | CA346732947 | MSH2 | c.902A>T (p.Lys301Ile) c.704A>T (p.Lys235Ile) n.974A>T n.964A>T | dbSNP |
2 | g.47414379A>C | CA346732948 | MSH2 | c.903A>C (p.Lys301Asn) c.705A>C (p.Lys235Asn) n.975A>C n.965A>C | |
2 | g.47414379A>G | CA425970192 | MSH2 | c.903A>G (p.Lys301=) c.705A>G (p.Lys235=) n.975A>G n.965A>G | gnomAD v4 |
2 | g.47414379A>T | CA346732949 | MSH2 | c.903A>T (p.Lys301Asn) c.705A>T (p.Lys235Asn) n.975A>T n.965A>T | dbSNP |
2 | g.47414380T>A | CA346732951 | MSH2 | c.904T>A (p.Leu302Met) c.706T>A (p.Leu236Met) n.976T>A n.966T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414380T>C | CA10577959 | MSH2 | c.904T>C (p.Leu302=) c.706T>C (p.Leu236=) n.976T>C n.966T>C | ClinVar dbSNP |
2 | g.47414380T>G | CA346732950 | MSH2 | c.904T>G (p.Leu302Val) c.706T>G (p.Leu236Val) n.976T>G n.966T>G | |
2 | g.47414380T= | CA2495834016 | MSH2 | c.904T= (p.Leu302=) c.706T= (p.Leu236=) n.976T= n.966T= | |
2 | g.47414381T>A | CA022523 | MSH2 | c.905T>A (p.Leu302Ter) c.707T>A (p.Leu236Ter) n.977T>A n.967T>A | ClinVar dbSNP |
2 | g.47414381T>C | CA10577960 | MSH2 | c.905T>C (p.Leu302Ser) c.707T>C (p.Leu236Ser) n.977T>C n.967T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414381T>G | CA346732952 | MSH2 | c.905T>G (p.Leu302Trp) c.707T>G (p.Leu236Trp) n.977T>G n.967T>G | gnomAD v4 |
2 | g.47414381T= | CA2495834017 | MSH2 | c.905T= (p.Leu302=) c.707T= (p.Leu236=) n.977T= n.967T= | |
2 | g.47414382G>A | CA022528 | MSH2 | c.906G>A (p.Leu302=) c.708G>A (p.Leu236=) n.978G>A n.968G>A | ClinVar dbSNP |
2 | g.47414382G>C | CA346732953 | MSH2 | c.906G>C (p.Leu302Phe) c.708G>C (p.Leu236Phe) n.978G>C n.968G>C | ClinVar dbSNP |
2 | g.47414382G= | CA2495834018 | MSH2 | c.906G= (p.Leu302=) c.708G= (p.Leu236=) n.978G= n.968G= | |
2 | g.47414382G>T | CA346732954 | MSH2 | c.906G>T (p.Leu302Phe) c.708G>T (p.Leu236Phe) n.978G>T n.968G>T | |
2 | g.47414383G>A | CA16617568 | MSH2 | c.907G>A (p.Asp303Asn) c.709G>A (p.Asp237Asn) n.979G>A n.969G>A | ClinVar dbSNP |
2 | g.47414383G>C | CA346732955 | MSH2 | c.907G>C (p.Asp303His) c.709G>C (p.Asp237His) n.979G>C n.969G>C | ClinVar dbSNP |
2 | g.47414383G= | CA2495834019 | MSH2 | c.907G= (p.Asp303=) c.709G= (p.Asp237=) n.979G= n.969G= | |
2 | g.47414383G>T | CA346732956 | MSH2 | c.907G>T (p.Asp303Tyr) c.709G>T (p.Asp237Tyr) n.979G>T n.969G>T | dbSNP |
2 | g.47414384del | CA2580067061 | MSH2 | c.908del (p.Asp303ValfsTer28) c.710del (p.Asp237ValfsTer28) n.980del n.970del | ClinVar |
2 | g.47414384A>C | CA346732957 | MSH2 | c.908A>C (p.Asp303Ala) c.710A>C (p.Asp237Ala) n.980A>C n.970A>C | |
2 | g.47414384A>G | CA346732958 | MSH2 | c.908A>G (p.Asp303Gly) c.710A>G (p.Asp237Gly) n.980A>G n.970A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414384A>T | CA346732959 | MSH2 | c.908A>T (p.Asp303Val) c.710A>T (p.Asp237Val) n.980A>T n.970A>T | ClinVar dbSNP |
2 | g.47414385T>A | CA346732960 | MSH2 | c.909T>A (p.Asp303Glu) c.711T>A (p.Asp237Glu) n.981T>A n.971T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414385T>C | CA425970222 | MSH2 | c.909T>C (p.Asp303=) c.711T>C (p.Asp237=) n.981T>C n.971T>C | ClinVar |
2 | g.47414385T>G | CA346732961 | MSH2 | c.909T>G (p.Asp303Glu) c.711T>G (p.Asp237Glu) n.981T>G n.971T>G | dbSNP |
2 | g.47414386A= | CA2495834020 | MSH2 | c.910A= (p.Ile304=) c.712A= (p.Ile238=) n.982A= n.972A= | |
2 | g.47414386A>C | CA346732964 | MSH2 | c.910A>C (p.Ile304Leu) c.712A>C (p.Ile238Leu) n.982A>C n.972A>C | dbSNP |
2 | g.47414386A>G | CA346732962 | MSH2 | c.910A>G (p.Ile304Val) c.712A>G (p.Ile238Val) n.982A>G n.972A>G | ClinVar dbSNP |
2 | g.47414386A>T | CA346732963 | MSH2 | c.910A>T (p.Ile304Phe) c.712A>T (p.Ile238Phe) n.982A>T n.972A>T | ClinVar dbSNP |
2 | g.47414387T>A | CA346732965 | MSH2 | c.911T>A (p.Ile304Asn) c.713T>A (p.Ile238Asn) n.983T>A n.973T>A | dbSNP |
2 | g.47414387T>C | CA46684227 | MSH2 | c.911T>C (p.Ile304Thr) c.713T>C (p.Ile238Thr) n.983T>C n.973T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414387T>G | CA346732966 | MSH2 | c.911T>G (p.Ile304Ser) c.713T>G (p.Ile238Ser) n.983T>G n.973T>G | |
2 | g.47414387T= | CA2495834021 | MSH2 | c.911T= (p.Ile304=) c.713T= (p.Ile238=) n.983T= n.973T= | |
2 | g.47414388dup | CA337334 | MSH2 | c.912dup (p.Ala305CysfsTer7) c.714dup (p.Ala239CysfsTer7) n.984dup n.974dup | ClinVar dbSNP |
2 | g.47414388T>A | CA425970243 | MSH2 | c.912T>A (p.Ile304=) c.714T>A (p.Ile238=) n.984T>A n.974T>A | |
2 | g.47414388T>C | CA022533 | MSH2 | c.912T>C (p.Ile304=) c.714T>C (p.Ile238=) n.984T>C n.974T>C | ClinVar dbSNP |
2 | g.47414388T>G | CA346732967 | MSH2 | c.912T>G (p.Ile304Met) c.714T>G (p.Ile238Met) n.984T>G n.974T>G | |
2 | g.47414388T= | CA2495834022 | MSH2 | c.912T= (p.Ile304=) c.714T= (p.Ile238=) n.984T= n.974T= | |
2 | g.47414388_47414398delinsTGCAGCAGTCA | CA2495834023 | MSH2 | c.912_922delinsTGCAGCAGTCA (p.Ile304=) c.714_724delinsTGCAGCAGTCA (p.Ile238=) n.984_994delinsTGCAGCAGTCA n.974_984delinsTGCAGCAGTCA | |
2 | g.47414389G>A | CA022539 | MSH2 | c.913G>A (p.Ala305Thr) c.715G>A (p.Ala239Thr) n.985G>A n.975G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414389G>C | CA346732968 | MSH2 | c.913G>C (p.Ala305Pro) c.715G>C (p.Ala239Pro) n.985G>C n.975G>C | dbSNP |
2 | g.47414389G= | CA2495834024 | MSH2 | c.913G= (p.Ala305=) c.715G= (p.Ala239=) n.985G= n.975G= | |
2 | g.47414389G>T | CA346732969 | MSH2 | c.913G>T (p.Ala305Ser) c.715G>T (p.Ala239Ser) n.985G>T n.975G>T | dbSNP |
2 | g.47414389dup | CA197206 | MSH2 | c.913dup (p.Ala305GlyfsTer7) c.715dup (p.Ala239GlyfsTer7) n.985dup n.975dup | ClinVar dbSNP |
2 | g.47414390_47414399del | CA658760380 | MSH2 | c.914_923del (p.Ala305GlufsTer23) c.716_725del (p.Ala239GlufsTer23) n.986_995del n.976_985del | ClinVar dbSNP |
2 | g.47414390C>A | CA041105 | MSH2 | c.914C>A (p.Ala305Glu) c.716C>A (p.Ala239Glu) n.986C>A n.976C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414390C= | CA2495834026 | MSH2 | c.914C= (p.Ala305=) c.716C= (p.Ala239=) n.986C= n.976C= | |
2 | g.47414390C>G | CA346732970 | MSH2 | c.914C>G (p.Ala305Gly) c.716C>G (p.Ala239Gly) n.986C>G n.976C>G | dbSNP gnomAD v4 |
2 | g.47414390C>T | CA346732971 | MSH2 | c.914C>T (p.Ala305Val) c.716C>T (p.Ala239Val) n.986C>T n.976C>T | ClinVar dbSNP |
2 | g.47414390_47414391delinsCA | CA2495834025 | MSH2 | c.914_915delinsCA (p.Ala305=) c.716_717delinsCA (p.Ala239=) n.986_987delinsCA n.976_977delinsCA | |
2 | g.47414391del | CA1139656935 | MSH2 | c.915del (p.Ala306GlnfsTer25) c.717del (p.Ala240GlnfsTer25) n.987del n.977del | ClinVar dbSNP |
2 | g.47414391A= | CA2495834027 | MSH2 | c.915A= (p.Ala305=) c.717A= (p.Ala239=) n.987A= n.977A= | |
2 | g.47414391A>C | CA041122 | MSH2 | c.915A>C (p.Ala305=) c.717A>C (p.Ala239=) n.987A>C n.977A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414391A>G | CA425970261 | MSH2 | c.915A>G (p.Ala305=) c.717A>G (p.Ala239=) n.987A>G n.977A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414391A>T | CA425970259 | MSH2 | c.915A>T (p.Ala305=) c.717A>T (p.Ala239=) n.987A>T n.977A>T | dbSNP |
2 | g.47414391_47414398dup | CA022544 | MSH2 | c.915_922dup (p.Arg308LysfsTer26) c.717_724dup (p.Arg242LysfsTer26) n.987_994dup n.977_984dup | ClinVar dbSNP |
2 | g.47414392G>A | CA346732974 | MSH2 | c.916G>A (p.Ala306Thr) c.718G>A (p.Ala240Thr) n.988G>A n.978G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414392G>C | CA346732972 | MSH2 | c.916G>C (p.Ala306Pro) c.718G>C (p.Ala240Pro) n.988G>C n.978G>C | dbSNP |
2 | g.47414392G>T | CA346732973 | MSH2 | c.916G>T (p.Ala306Ser) c.718G>T (p.Ala240Ser) n.988G>T n.978G>T | dbSNP |
2 | g.47414392_47414393delinsAT | CA2573134973 | MSH2 | c.916_917delinsAT (p.Ala306Ile) c.718_719delinsAT (p.Ala240Ile) n.988_989delinsAT n.978_979delinsAT | ClinVar dbSNP |