Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94471595_94471598delinsGAAA | CA1992427003 | MRE11 | c.821_824delinsTTTC (p.Leu274=) c.830_833delinsTTTC (p.Leu277=) c.353_356delinsTTTC (p.Leu118=) n.1117_1120delinsTTTC | |
11 | g.94471596A= | CA1992427016 | MRE11 | c.823T= (p.Ser275=) c.832T= (p.Ser278=) c.355T= (p.Ser119=) n.1119T= | |
11 | g.94471596A>C | CA382375505 | MRE11 | c.823T>G (p.Ser275Ala) c.832T>G (p.Ser278Ala) c.355T>G (p.Ser119Ala) n.1119T>G | dbSNP |
11 | g.94471596A>G | CA382375507 | MRE11 | c.823T>C (p.Ser275Pro) c.832T>C (p.Ser278Pro) c.355T>C (p.Ser119Pro) n.1119T>C | |
11 | g.94471596A>T | CA6235300 | MRE11 | c.823T>A (p.Ser275Thr) c.832T>A (p.Ser278Thr) c.355T>A (p.Ser119Thr) n.1119T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.94471596_94471598delinsT | CA191452 | MRE11 | c.821_823delinsA (p.Leu274HisfsTer16) c.830_832delinsA (p.Leu277HisfsTer16) c.353_355delinsA (p.Leu118HisfsTer16) n.1117_1119delinsA | ClinVar dbSNP |
11 | g.94471597_94471598del | CA2574952723 | MRE11 | c.822_823del (p.Ser275ProfsTer15) c.831_832del (p.Ser278ProfsTer15) c.354_355del (p.Ser119ProfsTer15) n.1118_1119del | |
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.94471597A= | CA1992427024 | MRE11 | c.822T= (p.Leu274=) c.831T= (p.Leu277=) c.354T= (p.Leu118=) n.1118T= | |
11 | g.94471597A>C | CA476284324 | MRE11 | c.822T>G (p.Leu274=) c.831T>G (p.Leu277=) c.354T>G (p.Leu118=) n.1118T>G | |
11 | g.94471597A>G | CA333738 | MRE11 | c.822T>C (p.Leu274=) c.831T>C (p.Leu277=) c.354T>C (p.Leu118=) n.1118T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.94471597A>T | CA476284325 | MRE11 | c.822T>A (p.Leu274=) c.831T>A (p.Leu277=) c.354T>A (p.Leu118=) n.1118T>A | |
11 | g.94471597_94471599delinsAAG | CA1992427028 | MRE11 | c.820_822delinsCTT (p.Leu274=) c.829_831delinsCTT (p.Leu277=) c.352_354delinsCTT (p.Leu118=) n.1116_1118delinsCTT | |
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.94471598A= | CA1992427038 | MRE11 | c.821T= (p.Leu274=) c.830T= (p.Leu277=) c.353T= (p.Leu118=) n.1117T= | |
11 | g.94471598A>C | CA382375511 | MRE11 | c.821T>G (p.Leu274Arg) c.830T>G (p.Leu277Arg) c.353T>G (p.Leu118Arg) n.1117T>G | |
11 | g.94471598A>G | CA382375512 | MRE11 | c.821T>C (p.Leu274Pro) c.830T>C (p.Leu277Pro) c.353T>C (p.Leu118Pro) n.1117T>C | dbSNP |
11 | g.94471598A>T | CA382375513 | MRE11 | c.821T>A (p.Leu274His) c.830T>A (p.Leu277His) c.353T>A (p.Leu118His) n.1117T>A | |
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.94471599G>A | CA382375518 | MRE11 | c.820C>T (p.Leu274Phe) c.829C>T (p.Leu277Phe) c.352C>T (p.Leu118Phe) n.1116C>T | ClinVar dbSNP |
11 | g.94471599G>C | CA382375517 | MRE11 | c.820C>G (p.Leu274Val) c.829C>G (p.Leu277Val) c.352C>G (p.Leu118Val) n.1116C>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.94471599G= | CA1992427061 | MRE11 | c.820C= (p.Leu274=) c.829C= (p.Leu277=) c.352C= (p.Leu118=) n.1116C= | |
11 | g.94471599G>T | CA382375515 | MRE11 | c.820C>A (p.Leu274Ile) c.829C>A (p.Leu277Ile) c.352C>A (p.Leu118Ile) n.1116C>A | |
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= |