Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94471596_94471601delinsAAAGAG | CA1992427014 | MRE11 | c.818_823delinsCTCTTT (p.Ser273=) c.827_832delinsCTCTTT (p.Ser276=) c.350_355delinsCTCTTT (p.Ser117=) n.1114_1119delinsCTCTTT | |
11 | g.94471600_94471604del | CA1992427025 | MRE11 | c.818_822del (p.Ser273PhefsTer16) c.827_831del (p.Ser276PhefsTer16) c.350_354del (p.Ser117PhefsTer16) n.1114_1118del | dbSNP |
11 | g.94471601_94471602del | CA601193729 | MRE11 | c.820_821del (p.Leu274PhefsTer16) c.829_830del (p.Leu277PhefsTer16) c.352_353del (p.Leu118PhefsTer16) n.1116_1117del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94471600A>C | CA476284326 | MRE11 | c.819T>G (p.Ser273=) c.828T>G (p.Ser276=) c.351T>G (p.Ser117=) n.1115T>G | |
11 | g.94471600A>G | CA476284327 | MRE11 | c.819T>C (p.Ser273=) c.828T>C (p.Ser276=) c.351T>C (p.Ser117=) n.1115T>C | |
11 | g.94471600A>T | CA476284328 | MRE11 | c.819T>A (p.Ser273=) c.828T>A (p.Ser276=) c.351T>A (p.Ser117=) n.1115T>A | |
11 | g.94471601G>A | CA6235301 | MRE11 | c.818C>T (p.Ser273Phe) c.827C>T (p.Ser276Phe) c.350C>T (p.Ser117Phe) n.1114C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.94471601G>C | CA331849 | MRE11 | c.818C>G (p.Ser273Cys) c.827C>G (p.Ser276Cys) c.350C>G (p.Ser117Cys) n.1114C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94471601G= | CA1992427071 | MRE11 | c.818C= (p.Ser273=) c.827C= (p.Ser276=) c.350C= (p.Ser117=) n.1114C= | |
11 | g.94471601G>T | CA382375521 | MRE11 | c.818C>A (p.Ser273Tyr) c.827C>A (p.Ser276Tyr) c.350C>A (p.Ser117Tyr) n.1114C>A | |
11 | g.94471602A>C | CA382375522 | MRE11 | c.817T>G (p.Ser273Ala) c.826T>G (p.Ser276Ala) c.349T>G (p.Ser117Ala) n.1113T>G | |
11 | g.94471602A>G | CA382375523 | MRE11 | c.817T>C (p.Ser273Pro) c.826T>C (p.Ser276Pro) c.349T>C (p.Ser117Pro) n.1113T>C | |
11 | g.94471602A>T | CA382375526 | MRE11 | c.817T>A (p.Ser273Thr) c.826T>A (p.Ser276Thr) c.349T>A (p.Ser117Thr) n.1113T>A | |
11 | g.94471603A>C | CA476284329 | MRE11 | c.816T>G (p.Thr272=) c.825T>G (p.Thr275=) c.348T>G (p.Thr116=) n.1112T>G | |
11 | g.94471603A>G | CA476284330 | MRE11 | c.816T>C (p.Thr272=) c.825T>C (p.Thr275=) c.348T>C (p.Thr116=) n.1112T>C | |
11 | g.94471603A>T | CA476284331 | MRE11 | c.816T>A (p.Thr272=) c.825T>A (p.Thr275=) c.348T>A (p.Thr116=) n.1112T>A | |
11 | g.94471604G>A | CA382375528 | MRE11 | c.815C>T (p.Thr272Ile) c.824C>T (p.Thr275Ile) c.347C>T (p.Thr116Ile) n.1111C>T | ClinVar |
11 | g.94471604G>C | CA382375529 | MRE11 | c.815C>G (p.Thr272Ser) c.824C>G (p.Thr275Ser) c.347C>G (p.Thr116Ser) n.1111C>G | |
11 | g.94471604G>T | CA382375531 | MRE11 | c.815C>A (p.Thr272Asn) c.824C>A (p.Thr275Asn) c.347C>A (p.Thr116Asn) n.1111C>A | |
11 | g.94471605T>A | CA382375533 | MRE11 | c.814A>T (p.Thr272Ser) c.823A>T (p.Thr275Ser) c.346A>T (p.Thr116Ser) n.1110A>T | |
11 | g.94471605T>C | CA382375537 | MRE11 | c.814A>G (p.Thr272Ala) c.823A>G (p.Thr275Ala) c.346A>G (p.Thr116Ala) n.1110A>G | |
11 | g.94471605T>G | CA382375538 | MRE11 | c.814A>C (p.Thr272Pro) c.823A>C (p.Thr275Pro) c.346A>C (p.Thr116Pro) n.1110A>C | |
11 | g.94471606A>C | CA476284332 | MRE11 | c.813T>G (p.Val271=) c.822T>G (p.Val274=) c.345T>G (p.Val115=) n.1109T>G | |
11 | g.94471606A>G | CA476284333 | MRE11 | c.813T>C (p.Val271=) c.822T>C (p.Val274=) c.345T>C (p.Val115=) n.1109T>C | |
11 | g.94471606A>T | CA476284334 | MRE11 | c.813T>A (p.Val271=) c.822T>A (p.Val274=) c.345T>A (p.Val115=) n.1109T>A | |
11 | g.94471607A>C | CA382375540 | MRE11 | c.812T>G (p.Val271Gly) c.821T>G (p.Val274Gly) c.344T>G (p.Val115Gly) n.1108T>G | |
11 | g.94471607A>G | CA382375542 | MRE11 | c.812T>C (p.Val271Ala) c.821T>C (p.Val274Ala) c.344T>C (p.Val115Ala) n.1108T>C | |
11 | g.94471607A>T | CA382375544 | MRE11 | c.812T>A (p.Val271Asp) c.821T>A (p.Val274Asp) c.344T>A (p.Val115Asp) n.1108T>A | |
11 | g.94471608C>A | CA382375548 | MRE11 | c.811G>T (p.Val271Phe) c.820G>T (p.Val274Phe) c.343G>T (p.Val115Phe) n.1107G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.94471608C= | CA1992427083 | MRE11 | c.811G= (p.Val271=) c.820G= (p.Val274=) c.343G= (p.Val115=) n.1107G= | |
11 | g.94471608C>G | CA382375546 | MRE11 | c.811G>C (p.Val271Leu) c.820G>C (p.Val274Leu) c.343G>C (p.Val115Leu) n.1107G>C | |
11 | g.94471608C>T | CA382375547 | MRE11 | c.811G>A (p.Val271Ile) c.820G>A (p.Val274Ile) c.343G>A (p.Val115Ile) n.1107G>A | |
11 | g.94471609C>A | CA476284335 | MRE11 | c.810G>T (p.Val270=) c.819G>T (p.Val273=) c.342G>T (p.Val114=) n.1106G>T | |
11 | g.94471609C>G | CA476284336 | MRE11 | c.810G>C (p.Val270=) c.819G>C (p.Val273=) c.342G>C (p.Val114=) n.1106G>C | ClinVar dbSNP |
11 | g.94471609C>T | CA476284337 | MRE11 | c.810G>A (p.Val270=) c.819G>A (p.Val273=) c.342G>A (p.Val114=) n.1106G>A | |
11 | g.94471610A>C | CA382375549 | MRE11 | c.809T>G (p.Val270Gly) c.818T>G (p.Val273Gly) c.341T>G (p.Val114Gly) n.1105T>G | |
11 | g.94471610A>G | CA382375551 | MRE11 | c.809T>C (p.Val270Ala) c.818T>C (p.Val273Ala) c.341T>C (p.Val114Ala) n.1105T>C | |
11 | g.94471610A>T | CA382375553 | MRE11 | c.809T>A (p.Val270Glu) c.818T>A (p.Val273Glu) c.341T>A (p.Val114Glu) n.1105T>A | |
11 | g.94471611C>A | CA382375555 | MRE11 | c.808G>T (p.Val270Leu) c.817G>T (p.Val273Leu) c.340G>T (p.Val114Leu) n.1104G>T | ClinVar dbSNP |
11 | g.94471611C= | CA1992427089 | MRE11 | c.808G= (p.Val270=) c.817G= (p.Val273=) c.340G= (p.Val114=) n.1104G= | |
11 | g.94471611C>G | CA382375556 | MRE11 | c.808G>C (p.Val270Leu) c.817G>C (p.Val273Leu) c.340G>C (p.Val114Leu) n.1104G>C | |
11 | g.94471611C>T | CA382375557 | MRE11 | c.808G>A (p.Val270Met) c.817G>A (p.Val273Met) c.340G>A (p.Val114Met) n.1104G>A | |
11 | g.94471612T>A | CA476284338 | MRE11 | c.807A>T (p.Ser269=) c.816A>T (p.Ser272=) c.339A>T (p.Ser113=) n.1103A>T | |
11 | g.94471612T>C | CA476284339 | MRE11 | c.807A>G (p.Ser269=) c.816A>G (p.Ser272=) c.339A>G (p.Ser113=) n.1103A>G | dbSNP gnomAD v2 |
11 | g.94471612T>G | CA476284340 | MRE11 | c.807A>C (p.Ser269=) c.816A>C (p.Ser272=) c.339A>C (p.Ser113=) n.1103A>C | ClinVar dbSNP |
11 | g.94471612T= | CA1992427093 | MRE11 | c.807A= (p.Ser269=) c.816A= (p.Ser272=) c.339A= (p.Ser113=) n.1103A= | |
11 | g.94471613G>A | CA6235302 | MRE11 | c.806C>T (p.Ser269Leu) c.815C>T (p.Ser272Leu) c.338C>T (p.Ser113Leu) n.1102C>T | dbSNP ExAC gnomAD v2 |
11 | g.94471613G>C | CA10579397 | MRE11 | c.806C>G (p.Ser269Ter) c.815C>G (p.Ser272Ter) c.338C>G (p.Ser113Ter) n.1102C>G | ClinVar dbSNP gnomAD v4 |
11 | g.94471613G= | CA1992427105 | MRE11 | c.806C= (p.Ser269=) c.815C= (p.Ser272=) c.338C= (p.Ser113=) n.1102C= | |
11 | g.94471613G>T | CA382375561 | MRE11 | c.806C>A (p.Ser269Ter) c.815C>A (p.Ser272Ter) c.338C>A (p.Ser113Ter) n.1102C>A |