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.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.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= |