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.47414318_47414507del | CA2580067008 | MSH2 | c.842_942+89del c.644_744+89del n.914_1014+89del n.904_1004+89del | 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.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= |