| 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.47414247A= | CA2495833710 | MSH2 | c.793-22A= (n.793-22A=) c.595-22A= (n.595-22A=) n.865-22A= n.855-22A= | |
| 2 | g.47414247A>T | CA769455474 | MSH2 | c.793-22A>T (n.793-22A>T) c.595-22A>T (n.595-22A>T) n.865-22A>T n.855-22A>T | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47414248T>A | CA2699274810 | MSH2 | c.793-21T>A (n.793-21T>A) c.595-21T>A (n.595-21T>A) n.865-21T>A n.855-21T>A | dbSNP |
| 2 | g.47414249T>C | CA2699274847 | MSH2 | c.793-20T>C (n.793-20T>C) c.595-20T>C (n.595-20T>C) n.865-20T>C n.855-20T>C | dbSNP |
| 2 | g.47414250T>C | CA040522 | MSH2 | c.793-19T>C (n.793-19T>C) c.595-19T>C (n.595-19T>C) n.865-19T>C n.855-19T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47414250T= | CA2495833713 | MSH2 | c.793-19T= (n.793-19T=) c.595-19T= (n.595-19T=) n.865-19T= n.855-19T= | |
| 2 | g.47414251T>C | CA2699274864 | MSH2 | c.793-18T>C (n.793-18T>C) c.595-18T>C (n.595-18T>C) n.865-18T>C n.855-18T>C | dbSNP |
| 2 | g.47414253A= | CA2495833715 | MSH2 | c.793-16A= (n.793-16A=) c.595-16A= (n.595-16A=) n.865-16A= n.855-16A= | |
| 2 | g.47414253A>T | CA532705011 | MSH2 | c.793-16A>T (n.793-16A>T) c.595-16A>T (n.595-16A>T) n.865-16A>T n.855-16A>T | dbSNP gnomAD v2 |
| 2 | g.47414254A>T | CA2699274993 | MSH2 | c.793-15A>T (n.793-15A>T) c.595-15A>T (n.595-15A>T) n.865-15A>T n.855-15A>T | dbSNP |
| 2 | g.47414254_47414258del | CA2658946477 | MSH2 | c.793-15_793-11del (n.793-15_793-11del) c.595-15_595-11del (n.595-15_595-11del) n.865-15_865-11del n.855-15_855-11del | gnomAD v4 |
| 2 | g.47414255A= | CA2495833717 | MSH2 | c.793-14A= (n.793-14A=) c.595-14A= (n.595-14A=) n.865-14A= n.855-14A= | |
| 2 | g.47414255A>G | CA2699120643 | MSH2 | c.793-14A>G (n.793-14A>G) c.595-14A>G (n.595-14A>G) n.865-14A>G n.855-14A>G | dbSNP |
| 2 | g.47414255A>T | CA658683220 | MSH2 | c.793-14A>T (n.793-14A>T) c.595-14A>T (n.595-14A>T) n.865-14A>T n.855-14A>T | ClinVar dbSNP |
| 2 | g.47414256T>A | CA2699274995 | MSH2 | c.793-13T>A (n.793-13T>A) c.595-13T>A (n.595-13T>A) n.865-13T>A n.855-13T>A | dbSNP |
| 2 | g.47414258C>A | CA2658946478 | MSH2 | c.793-11C>A (n.793-11C>A) c.595-11C>A (n.595-11C>A) n.865-11C>A n.855-11C>A | gnomAD v4 |
| 2 | g.47414258C= | CA2495833720 | MSH2 | c.793-11C= (n.793-11C=) c.595-11C= (n.595-11C=) n.865-11C= n.855-11C= | |
| 2 | g.47414258C>G | CA2697548095 | MSH2 | c.793-11C>G (n.793-11C>G) c.595-11C>G (n.595-11C>G) n.865-11C>G n.855-11C>G | ClinVar dbSNP |
| 2 | g.47414258C>T | CA46683758 | MSH2 | c.793-11C>T (n.793-11C>T) c.595-11C>T (n.595-11C>T) n.865-11C>T n.855-11C>T | dbSNP gnomAD v4 |
| 2 | g.47414259T>C | CA2499216015 | MSH2 | c.793-10T>C (n.793-10T>C) c.595-10T>C (n.595-10T>C) n.865-10T>C n.855-10T>C | ClinVar dbSNP |
| 2 | g.47414259T>G | CA16610848 | MSH2 | c.793-10T>G (n.793-10T>G) c.595-10T>G (n.595-10T>G) n.865-10T>G n.855-10T>G | ClinVar dbSNP |
| 2 | g.47414259T= | CA2495833722 | MSH2 | c.793-10T= (n.793-10T=) c.595-10T= (n.595-10T=) n.865-10T= n.855-10T= | |
| 2 | g.47414260T>C | CA915943889 | MSH2 | c.793-9T>C (n.793-9T>C) c.595-9T>C (n.595-9T>C) n.865-9T>C n.855-9T>C | ClinVar dbSNP |
| 2 | g.47414260T= | CA2495833728 | MSH2 | c.793-9T= (n.793-9T=) c.595-9T= (n.595-9T=) n.865-9T= n.855-9T= | |
| 2 | g.47414261A= | CA2495833731 | MSH2 | c.793-8A= (n.793-8A=) c.595-8A= (n.595-8A=) n.865-8A= n.855-8A= | |
| 2 | g.47414261A>C | CA1139656927 | MSH2 | c.793-8A>C (n.793-8A>C) c.595-8A>C (n.595-8A>C) n.865-8A>C n.855-8A>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.47414261A>G | CA2658946479 | MSH2 | c.793-8A>G (n.793-8A>G) c.595-8A>G (n.595-8A>G) n.865-8A>G n.855-8A>G | gnomAD v4 |
| 2 | g.47414261A>T | CA2699139486 | MSH2 | c.793-8A>T (n.793-8A>T) c.595-8A>T (n.595-8A>T) n.865-8A>T n.855-8A>T | dbSNP |
| 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.47414263T>A | CA2699275104 | MSH2 | c.793-6T>A (n.793-6T>A) c.595-6T>A (n.595-6T>A) n.865-6T>A n.855-6T>A | dbSNP |
| 2 | g.47414263T>C | CA2697548096 | MSH2 | c.793-6T>C (n.793-6T>C) c.595-6T>C (n.595-6T>C) n.865-6T>C n.855-6T>C | ClinVar dbSNP |
| 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.47414264T>C | CA2699275123 | MSH2 | c.793-5T>C (n.793-5T>C) c.595-5T>C (n.595-5T>C) n.865-5T>C n.855-5T>C | dbSNP |
| 2 | g.47414265T>C | CA2699275126 | MSH2 | c.793-4T>C (n.793-4T>C) c.595-4T>C (n.595-4T>C) n.865-4T>C n.855-4T>C | 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.47414266T>C | CA913187991 | MSH2 | c.793-3T>C (n.793-3T>C) c.595-3T>C (n.595-3T>C) n.865-3T>C n.855-3T>C | ClinVar dbSNP |
| 2 | g.47414266T= | CA2495833741 | MSH2 | c.793-3T= (n.793-3T=) c.595-3T= (n.595-3T=) n.865-3T= n.855-3T= | |
| 2 | g.47414267A= | CA2495833747 | MSH2 | c.793-2A= (n.793-2A=) c.595-2A= (n.595-2A=) n.865-2A= n.855-2A= | |
| 2 | g.47414267A>C | CA022304 | MSH2 | c.793-2A>C (n.793-2A>C) c.595-2A>C (n.595-2A>C) n.865-2A>C n.855-2A>C | ClinVar dbSNP |
| 2 | g.47414267A>G | CA346732732 | MSH2 | c.793-2A>G (n.793-2A>G) c.595-2A>G (n.595-2A>G) n.865-2A>G n.855-2A>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.47414267A>T | CA346732733 | MSH2 | c.793-2A>T (n.793-2A>T) c.595-2A>T (n.595-2A>T) n.865-2A>T n.855-2A>T | ClinVar dbSNP |
| 2 | g.47414267_47414268insAAATTAA | CA1139771894 | MSH2 | c.793-2_793-1insAAATTAA (n.793-2_793-1insAAATTAA) c.595-2_595-1insAAATTAA (n.595-2_595-1insAAATTAA) n.865-2_865-1insAAATTAA n.855-2_855-1insAAATTAA | |
| 2 | g.47414267_47414272delinsAGGTTG | CA2495833751 | MSH2 | c.793-2_796delinsAGGTTG c.595-2_598delinsAGGTTG n.865-2_868delinsAGGTTG n.855-2_858delinsAGGTTG | |
| 2 | g.47414268G>A | CA279694 | MSH2 | c.793-1G>A (n.793-1G>A) c.595-1G>A (n.595-1G>A) n.865-1G>A n.855-1G>A | ClinVar dbSNP |
| 2 | g.47414268G>C | CA346732734 | MSH2 | c.793-1G>C (n.793-1G>C) c.595-1G>C (n.595-1G>C) n.865-1G>C n.855-1G>C | ClinVar dbSNP |
| 2 | g.47414268G= | CA2495833758 | MSH2 | c.793-1G= (n.793-1G=) c.595-1G= (n.595-1G=) n.865-1G= n.855-1G= | |
| 2 | g.47414268G>T | CA346732735 | MSH2 | c.793-1G>T (n.793-1G>T) c.595-1G>T (n.595-1G>T) n.865-1G>T n.855-1G>T | ClinVar dbSNP |
| 2 | g.47414268_47414269del | CA1139771123 | MSH2 | c.793-1_793del c.595-1_595del n.865-1_865del n.855-1_855del | |
| 2 | g.47414268_47414272del | CA2573051956 | MSH2 | c.793-1_796del c.595-1_598del n.865-1_868del n.855-1_858del | dbSNP |