| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45364038C>A | CA507953535 | ERCC2 | c.897G>T (p.Arg299=) n.926G>T c.*155G>T (n.*155G>T) c.774G>T (p.Arg258=) c.825G>T (p.Arg275=) c.20G>T n.994G>T c.663G>T (p.Arg221=) c.819G>T (p.Arg273=) n.944G>T | |
| 19 | g.45364038C>G | CA507953534 | ERCC2 | c.897G>C (p.Arg299=) n.926G>C c.*155G>C (n.*155G>C) c.774G>C (p.Arg258=) c.825G>C (p.Arg275=) c.20G>C n.994G>C c.663G>C (p.Arg221=) c.819G>C (p.Arg273=) n.944G>C | |
| 19 | g.45364038C>T | CA507953533 | ERCC2 | c.897G>A (p.Arg299=) n.926G>A c.*155G>A (n.*155G>A) c.774G>A (p.Arg258=) c.825G>A (p.Arg275=) c.20G>A n.994G>A c.663G>A (p.Arg221=) c.819G>A (p.Arg273=) n.944G>A | gnomAD v4 |
| 19 | g.45364039C>A | CA406373501 | ERCC2 | c.896G>T (p.Arg299Leu) n.925G>T c.*154G>T (n.*154G>T) c.773G>T (p.Arg258Leu) c.824G>T (p.Arg275Leu) c.19G>T n.993G>T c.662G>T (p.Arg221Leu) c.818G>T (p.Arg273Leu) n.943G>T | gnomAD v4 |
| 19 | g.45364039C= | CA2338395711 | ERCC2 | c.896G= (p.Arg299=) n.925G= c.*154G= (n.*154G=) c.773G= (p.Arg258=) c.824G= (p.Arg275=) c.19G= n.993G= c.662G= (p.Arg221=) c.818G= (p.Arg273=) n.943G= | |
| 19 | g.45364039C>G | CA406373503 | ERCC2 | c.896G>C (p.Arg299Pro) n.925G>C c.*154G>C (n.*154G>C) c.773G>C (p.Arg258Pro) c.824G>C (p.Arg275Pro) c.19G>C n.993G>C c.662G>C (p.Arg221Pro) c.818G>C (p.Arg273Pro) n.943G>C | dbSNP |
| 19 | g.45364039C>T | CA406373505 | ERCC2 | c.896G>A (p.Arg299Gln) n.925G>A c.*154G>A (n.*154G>A) c.773G>A (p.Arg258Gln) c.824G>A (p.Arg275Gln) c.19G>A n.993G>A c.662G>A (p.Arg221Gln) c.818G>A (p.Arg273Gln) n.943G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364040G>A | CA9513586 | ERCC2 | c.895C>T (p.Arg299Trp) n.924C>T c.*153C>T (n.*153C>T) c.772C>T (p.Arg258Trp) c.823C>T (p.Arg275Trp) c.18C>T n.992C>T c.661C>T (p.Arg221Trp) c.817C>T (p.Arg273Trp) n.942C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364040G>C | CA406373508 | ERCC2 | c.895C>G (p.Arg299Gly) n.924C>G c.*153C>G (n.*153C>G) c.772C>G (p.Arg258Gly) c.823C>G (p.Arg275Gly) c.18C>G n.992C>G c.661C>G (p.Arg221Gly) c.817C>G (p.Arg273Gly) n.942C>G | ClinVar gnomAD v4 |
| 19 | g.45364040G= | CA2338395712 | ERCC2 | c.895C= (p.Arg299=) n.924C= c.*153C= (n.*153C=) c.772C= (p.Arg258=) c.823C= (p.Arg275=) c.18C= n.992C= c.661C= (p.Arg221=) c.817C= (p.Arg273=) n.942C= | |
| 19 | g.45364040G>T | CA507953537 | ERCC2 | c.895C>A (p.Arg299=) n.924C>A c.*153C>A (n.*153C>A) c.772C>A (p.Arg258=) c.823C>A (p.Arg275=) c.18C>A n.992C>A c.661C>A (p.Arg221=) c.817C>A (p.Arg273=) n.942C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364042del | CA2585788655 | ERCC2 | c.895del (p.Arg299GlyfsTer?) n.924del c.*153del (n.*153del) c.772del (p.Arg258GlyfsTer?) c.823del (p.Arg275GlyfsTer?) c.18del n.992del c.661del (p.Arg221GlyfsTer?) c.817del (p.Arg273GlyfsTer?) n.942del | gnomAD v4 |
| 19 | g.45364041G>A | CA507953539 | ERCC2 | c.894C>T (p.Ala298=) n.923C>T c.*152C>T (n.*152C>T) c.771C>T (p.Ala257=) c.822C>T (p.Ala274=) c.17C>T n.991C>T c.660C>T (p.Ala220=) c.816C>T (p.Ala272=) n.941C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364041G>C | CA507953540 | ERCC2 | c.894C>G (p.Ala298=) n.923C>G c.*152C>G (n.*152C>G) c.771C>G (p.Ala257=) c.822C>G (p.Ala274=) c.17C>G n.991C>G c.660C>G (p.Ala220=) c.816C>G (p.Ala272=) n.941C>G | |
| 19 | g.45364041G= | CA2338395713 | ERCC2 | c.894C= (p.Ala298=) n.923C= c.*152C= (n.*152C=) c.771C= (p.Ala257=) c.822C= (p.Ala274=) c.17C= n.991C= c.660C= (p.Ala220=) c.816C= (p.Ala272=) n.941C= | |
| 19 | g.45364041G>T | CA507953541 | ERCC2 | c.894C>A (p.Ala298=) n.923C>A c.*152C>A (n.*152C>A) c.771C>A (p.Ala257=) c.822C>A (p.Ala274=) c.17C>A n.991C>A c.660C>A (p.Ala220=) c.816C>A (p.Ala272=) n.941C>A | gnomAD v4 |
| 19 | g.45364042G>A | CA406373511 | ERCC2 | c.893C>T (p.Ala298Val) n.922C>T c.*151C>T (n.*151C>T) c.770C>T (p.Ala257Val) c.821C>T (p.Ala274Val) c.16C>T n.990C>T c.659C>T (p.Ala220Val) c.815C>T (p.Ala272Val) n.940C>T | |
| 19 | g.45364042G>C | CA406373513 | ERCC2 | c.893C>G (p.Ala298Gly) n.922C>G c.*151C>G (n.*151C>G) c.770C>G (p.Ala257Gly) c.821C>G (p.Ala274Gly) c.16C>G n.990C>G c.659C>G (p.Ala220Gly) c.815C>G (p.Ala272Gly) n.940C>G | |
| 19 | g.45364042G>T | CA406373515 | ERCC2 | c.893C>A (p.Ala298Asp) n.922C>A c.*151C>A (n.*151C>A) c.770C>A (p.Ala257Asp) c.821C>A (p.Ala274Asp) c.16C>A n.990C>A c.659C>A (p.Ala220Asp) c.815C>A (p.Ala272Asp) n.940C>A | |
| 19 | g.45364043C>A | CA406373518 | ERCC2 | c.892G>T (p.Ala298Ser) n.921G>T c.*150G>T (n.*150G>T) c.769G>T (p.Ala257Ser) c.820G>T (p.Ala274Ser) c.15G>T n.989G>T c.658G>T (p.Ala220Ser) c.814G>T (p.Ala272Ser) n.939G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364043C= | CA2338395714 | ERCC2 | c.892G= (p.Ala298=) n.921G= c.*150G= (n.*150G=) c.769G= (p.Ala257=) c.820G= (p.Ala274=) c.15G= n.989G= c.658G= (p.Ala220=) c.814G= (p.Ala272=) n.939G= | |
| 19 | g.45364043C>G | CA406373520 | ERCC2 | c.892G>C (p.Ala298Pro) n.921G>C c.*150G>C (n.*150G>C) c.769G>C (p.Ala257Pro) c.820G>C (p.Ala274Pro) c.15G>C n.989G>C c.658G>C (p.Ala220Pro) c.814G>C (p.Ala272Pro) n.939G>C | |
| 19 | g.45364043C>T | CA406373522 | ERCC2 | c.892G>A (p.Ala298Thr) n.921G>A c.*150G>A (n.*150G>A) c.769G>A (p.Ala257Thr) c.820G>A (p.Ala274Thr) c.15G>A n.989G>A c.658G>A (p.Ala220Thr) c.814G>A (p.Ala272Thr) n.939G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364044G>A | CA9513587 | ERCC2 | c.891C>T (p.Ala297=) n.920C>T c.*149C>T (n.*149C>T) c.768C>T (p.Ala256=) c.819C>T (p.Ala273=) c.14C>T n.988C>T c.657C>T (p.Ala219=) c.813C>T (p.Ala271=) n.938C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364044G>C | CA507953543 | ERCC2 | c.891C>G (p.Ala297=) n.920C>G c.*149C>G (n.*149C>G) c.768C>G (p.Ala256=) c.819C>G (p.Ala273=) c.14C>G n.988C>G c.657C>G (p.Ala219=) c.813C>G (p.Ala271=) n.938C>G | ClinVar |
| 19 | g.45364044G= | CA2338395715 | ERCC2 | c.891C= (p.Ala297=) n.920C= c.*149C= (n.*149C=) c.768C= (p.Ala256=) c.819C= (p.Ala273=) c.14C= n.988C= c.657C= (p.Ala219=) c.813C= (p.Ala271=) n.938C= | |
| 19 | g.45364044G>T | CA507953544 | ERCC2 | c.891C>A (p.Ala297=) n.920C>A c.*149C>A (n.*149C>A) c.768C>A (p.Ala256=) c.819C>A (p.Ala273=) c.14C>A n.988C>A c.657C>A (p.Ala219=) c.813C>A (p.Ala271=) n.938C>A | gnomAD v4 |
| 19 | g.45364045G>A | CA9513588 | ERCC2 | c.890C>T (p.Ala297Val) n.919C>T c.*148C>T (n.*148C>T) c.767C>T (p.Ala256Val) c.818C>T (p.Ala273Val) c.13C>T n.987C>T c.656C>T (p.Ala219Val) c.812C>T (p.Ala271Val) n.937C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364045G>C | CA406373525 | ERCC2 | c.890C>G (p.Ala297Gly) n.919C>G c.*148C>G (n.*148C>G) c.767C>G (p.Ala256Gly) c.818C>G (p.Ala273Gly) c.13C>G n.987C>G c.656C>G (p.Ala219Gly) c.812C>G (p.Ala271Gly) n.937C>G | dbSNP |
| 19 | g.45364045G= | CA2338395716 | ERCC2 | c.890C= (p.Ala297=) n.919C= c.*148C= (n.*148C=) c.767C= (p.Ala256=) c.818C= (p.Ala273=) c.13C= n.987C= c.656C= (p.Ala219=) c.812C= (p.Ala271=) n.937C= | |
| 19 | g.45364045G>T | CA406373528 | ERCC2 | c.890C>A (p.Ala297Asp) n.919C>A c.*148C>A (n.*148C>A) c.767C>A (p.Ala256Asp) c.818C>A (p.Ala273Asp) c.13C>A n.987C>A c.656C>A (p.Ala219Asp) c.812C>A (p.Ala271Asp) n.937C>A | gnomAD v4 |
| 19 | g.45364046C>A | CA406373531 | ERCC2 | c.889G>T (p.Ala297Ser) n.918G>T c.*147G>T (n.*147G>T) c.766G>T (p.Ala256Ser) c.817G>T (p.Ala273Ser) c.12G>T n.986G>T c.655G>T (p.Ala219Ser) c.811G>T (p.Ala271Ser) n.936G>T | |
| 19 | g.45364046C= | CA2338395717 | ERCC2 | c.889G= (p.Ala297=) n.918G= c.*147G= (n.*147G=) c.766G= (p.Ala256=) c.817G= (p.Ala273=) c.12G= n.986G= c.655G= (p.Ala219=) c.811G= (p.Ala271=) n.936G= | |
| 19 | g.45364046C>G | CA406373533 | ERCC2 | c.889G>C (p.Ala297Pro) n.918G>C c.*147G>C (n.*147G>C) c.766G>C (p.Ala256Pro) c.817G>C (p.Ala273Pro) c.12G>C n.986G>C c.655G>C (p.Ala219Pro) c.811G>C (p.Ala271Pro) n.936G>C | dbSNP |
| 19 | g.45364046C>T | CA406373535 | ERCC2 | c.889G>A (p.Ala297Thr) n.918G>A c.*147G>A (n.*147G>A) c.766G>A (p.Ala256Thr) c.817G>A (p.Ala273Thr) c.12G>A n.986G>A c.655G>A (p.Ala219Thr) c.811G>A (p.Ala271Thr) n.936G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364049_45364059dup | CA2585788656 | ERCC2 | c.879_889dup (p.Ala297GlyfsTer?) n.908_918dup c.*137_*147dup (n.*137_*147dup) c.756_766dup (p.Ala256GlyfsTer?) c.807_817dup (p.Ala273GlyfsTer?) n.976_986dup c.645_655dup (p.Ala219GlyfsTer?) c.801_811dup (p.Ala271GlyfsTer?) n.926_936dup | gnomAD v4 |
| 19 | g.45364047G>A | CA308966804 | ERCC2 | c.888C>T (p.Ser296=) n.917C>T c.*146C>T (n.*146C>T) c.765C>T (p.Ser255=) c.816C>T (p.Ser272=) c.11C>T n.985C>T c.654C>T (p.Ser218=) c.810C>T (p.Ser270=) n.935C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364047G>C | CA406373538 | ERCC2 | c.888C>G (p.Ser296Arg) n.917C>G c.*146C>G (n.*146C>G) c.765C>G (p.Ser255Arg) c.816C>G (p.Ser272Arg) c.11C>G n.985C>G c.654C>G (p.Ser218Arg) c.810C>G (p.Ser270Arg) n.935C>G | gnomAD v4 |
| 19 | g.45364047G= | CA2338395718 | ERCC2 | c.888C= (p.Ser296=) n.917C= c.*146C= (n.*146C=) c.765C= (p.Ser255=) c.816C= (p.Ser272=) c.11C= n.985C= c.654C= (p.Ser218=) c.810C= (p.Ser270=) n.935C= | |
| 19 | g.45364047G>T | CA406373539 | ERCC2 | c.888C>A (p.Ser296Arg) n.917C>A c.*146C>A (n.*146C>A) c.765C>A (p.Ser255Arg) c.816C>A (p.Ser272Arg) c.11C>A n.985C>A c.654C>A (p.Ser218Arg) c.810C>A (p.Ser270Arg) n.935C>A | gnomAD v4 |
| 19 | g.45364048C>A | CA406373541 | ERCC2 | c.887G>T (p.Ser296Ile) n.916G>T c.*145G>T (n.*145G>T) c.764G>T (p.Ser255Ile) c.815G>T (p.Ser272Ile) c.10G>T n.984G>T c.653G>T (p.Ser218Ile) c.809G>T (p.Ser270Ile) n.934G>T | gnomAD v4 |
| 19 | g.45364048C>G | CA406373542 | ERCC2 | c.887G>C (p.Ser296Thr) n.916G>C c.*145G>C (n.*145G>C) c.764G>C (p.Ser255Thr) c.815G>C (p.Ser272Thr) c.10G>C n.984G>C c.653G>C (p.Ser218Thr) c.809G>C (p.Ser270Thr) n.934G>C | |
| 19 | g.45364048C>T | CA406373544 | ERCC2 | c.887G>A (p.Ser296Asn) n.916G>A c.*145G>A (n.*145G>A) c.764G>A (p.Ser255Asn) c.815G>A (p.Ser272Asn) c.10G>A n.984G>A c.653G>A (p.Ser218Asn) c.809G>A (p.Ser270Asn) n.934G>A | ClinVar gnomAD v4 |
| 19 | g.45364049T>A | CA406373547 | ERCC2 | c.886A>T (p.Ser296Cys) n.915A>T c.*144A>T (n.*144A>T) c.763A>T (p.Ser255Cys) c.814A>T (p.Ser272Cys) c.9A>T n.983A>T c.652A>T (p.Ser218Cys) c.808A>T (p.Ser270Cys) n.933A>T | |
| 19 | g.45364049T>C | CA406373549 | ERCC2 | c.886A>G (p.Ser296Gly) n.915A>G c.*144A>G (n.*144A>G) c.763A>G (p.Ser255Gly) c.814A>G (p.Ser272Gly) c.9A>G n.983A>G c.652A>G (p.Ser218Gly) c.808A>G (p.Ser270Gly) n.933A>G | |
| 19 | g.45364049T>G | CA406373550 | ERCC2 | c.886A>C (p.Ser296Arg) n.915A>C c.*144A>C (n.*144A>C) c.763A>C (p.Ser255Arg) c.814A>C (p.Ser272Arg) c.9A>C n.983A>C c.652A>C (p.Ser218Arg) c.808A>C (p.Ser270Arg) n.933A>C | |
| 19 | g.45364050G>A | CA507953549 | ERCC2 | c.885C>T (p.Ala295=) n.914C>T c.*143C>T (n.*143C>T) c.762C>T (p.Ala254=) c.813C>T (p.Ala271=) c.8C>T n.982C>T c.651C>T (p.Ala217=) c.807C>T (p.Ala269=) n.932C>T | |
| 19 | g.45364050G>C | CA507953551 | ERCC2 | c.885C>G (p.Ala295=) n.914C>G c.*143C>G (n.*143C>G) c.762C>G (p.Ala254=) c.813C>G (p.Ala271=) c.8C>G n.982C>G c.651C>G (p.Ala217=) c.807C>G (p.Ala269=) n.932C>G | |
| 19 | g.45364050G>T | CA507953552 | ERCC2 | c.885C>A (p.Ala295=) n.914C>A c.*143C>A (n.*143C>A) c.762C>A (p.Ala254=) c.813C>A (p.Ala271=) c.8C>A n.982C>A c.651C>A (p.Ala217=) c.807C>A (p.Ala269=) n.932C>A | gnomAD v4 |
| 19 | g.45364051G>A | CA406373556 | ERCC2 | c.884C>T (p.Ala295Val) n.913C>T c.*142C>T (n.*142C>T) c.761C>T (p.Ala254Val) c.812C>T (p.Ala271Val) c.7C>T n.981C>T c.650C>T (p.Ala217Val) c.806C>T (p.Ala269Val) n.931C>T | ClinVar |
| 19 | g.45364051G>C | CA406373553 | ERCC2 | c.884C>G (p.Ala295Gly) n.913C>G c.*142C>G (n.*142C>G) c.761C>G (p.Ala254Gly) c.812C>G (p.Ala271Gly) c.7C>G n.981C>G c.650C>G (p.Ala217Gly) c.806C>G (p.Ala269Gly) n.931C>G | dbSNP |
| 19 | g.45364051G>T | CA406373554 | ERCC2 | c.884C>A (p.Ala295Asp) n.913C>A c.*142C>A (n.*142C>A) c.761C>A (p.Ala254Asp) c.812C>A (p.Ala271Asp) c.7C>A n.981C>A c.650C>A (p.Ala217Asp) c.806C>A (p.Ala269Asp) n.931C>A | gnomAD v4 |
| 19 | g.45364052C>A | CA406373559 | ERCC2 | c.883G>T (p.Ala295Ser) n.912G>T c.*141G>T (n.*141G>T) c.760G>T (p.Ala254Ser) c.811G>T (p.Ala271Ser) c.6G>T n.980G>T c.649G>T (p.Ala217Ser) c.805G>T (p.Ala269Ser) n.930G>T | gnomAD v4 |
| 19 | g.45364052C>G | CA406373561 | ERCC2 | c.883G>C (p.Ala295Pro) n.912G>C c.*141G>C (n.*141G>C) c.760G>C (p.Ala254Pro) c.811G>C (p.Ala271Pro) c.6G>C n.980G>C c.649G>C (p.Ala217Pro) c.805G>C (p.Ala269Pro) n.930G>C | |
| 19 | g.45364052C>T | CA406373563 | ERCC2 | c.883G>A (p.Ala295Thr) n.912G>A c.*141G>A (n.*141G>A) c.760G>A (p.Ala254Thr) c.811G>A (p.Ala271Thr) c.6G>A n.980G>A c.649G>A (p.Ala217Thr) c.805G>A (p.Ala269Thr) n.930G>A | gnomAD v4 |
| 19 | g.45364053C>A | CA406373565 | ERCC2 | c.882G>T (p.Glu294Asp) n.911G>T c.*140G>T (n.*140G>T) c.759G>T (p.Glu253Asp) c.810G>T (p.Glu270Asp) c.5G>T n.979G>T c.648G>T (p.Glu216Asp) c.804G>T (p.Glu268Asp) n.929G>T | gnomAD v4 |
| 19 | g.45364053C>G | CA406373567 | ERCC2 | c.882G>C (p.Glu294Asp) n.911G>C c.*140G>C (n.*140G>C) c.759G>C (p.Glu253Asp) c.810G>C (p.Glu270Asp) c.5G>C n.979G>C c.648G>C (p.Glu216Asp) c.804G>C (p.Glu268Asp) n.929G>C | |
| 19 | g.45364053C>T | CA507953555 | ERCC2 | c.882G>A (p.Glu294=) n.911G>A c.*140G>A (n.*140G>A) c.759G>A (p.Glu253=) c.810G>A (p.Glu270=) c.5G>A n.979G>A c.648G>A (p.Glu216=) c.804G>A (p.Glu268=) n.929G>A | ClinVar |
| 19 | g.45364054T>A | CA406373570 | ERCC2 | c.881A>T (p.Glu294Val) n.910A>T c.*139A>T (n.*139A>T) c.758A>T (p.Glu253Val) c.809A>T (p.Glu270Val) c.4A>T n.978A>T c.647A>T (p.Glu216Val) c.803A>T (p.Glu268Val) n.928A>T | |
| 19 | g.45364054T>C | CA406373571 | ERCC2 | c.881A>G (p.Glu294Gly) n.910A>G c.*139A>G (n.*139A>G) c.758A>G (p.Glu253Gly) c.809A>G (p.Glu270Gly) c.4A>G n.978A>G c.647A>G (p.Glu216Gly) c.803A>G (p.Glu268Gly) n.928A>G | dbSNP |
| 19 | g.45364054T>G | CA406373574 | ERCC2 | c.881A>C (p.Glu294Ala) n.910A>C c.*139A>C (n.*139A>C) c.758A>C (p.Glu253Ala) c.809A>C (p.Glu270Ala) c.4A>C n.978A>C c.647A>C (p.Glu216Ala) c.803A>C (p.Glu268Ala) n.928A>C | ClinVar |
| 19 | g.45364054_45364055delinsTC | CA2338395719 | ERCC2 | c.880_881delinsGA (p.Glu294=) n.909_910delinsGA c.*138_*139delinsGA (n.*138_*139delinsGA) c.757_758delinsGA (p.Glu253=) c.808_809delinsGA (p.Glu270=) c.3_4delinsGA n.977_978delinsGA c.646_647delinsGA (p.Glu216=) c.802_803delinsGA (p.Glu268=) n.927_928delinsGA | |
| 19 | g.45364055C>A | CA406373577 | ERCC2 | c.880G>T (p.Glu294Ter) n.909G>T c.*138G>T (n.*138G>T) c.757G>T (p.Glu253Ter) c.808G>T (p.Glu270Ter) c.3G>T n.977G>T c.646G>T (p.Glu216Ter) c.802G>T (p.Glu268Ter) n.927G>T | gnomAD v4 |
| 19 | g.45364055C= | CA2338395721 | ERCC2 | c.880G= (p.Glu294=) n.909G= c.*138G= (n.*138G=) c.757G= (p.Glu253=) c.808G= (p.Glu270=) c.3G= n.977G= c.646G= (p.Glu216=) c.802G= (p.Glu268=) n.927G= | |
| 19 | g.45364055C>G | CA406373579 | ERCC2 | c.880G>C (p.Glu294Gln) n.909G>C c.*138G>C (n.*138G>C) c.757G>C (p.Glu253Gln) c.808G>C (p.Glu270Gln) c.3G>C n.977G>C c.646G>C (p.Glu216Gln) c.802G>C (p.Glu268Gln) n.927G>C | |
| 19 | g.45364055C>T | CA406373581 | ERCC2 | c.880G>A (p.Glu294Lys) n.909G>A c.*138G>A (n.*138G>A) c.757G>A (p.Glu253Lys) c.808G>A (p.Glu270Lys) c.3G>A n.977G>A c.646G>A (p.Glu216Lys) c.802G>A (p.Glu268Lys) n.927G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364057del | CA2338395720 | ERCC2 | c.880del (p.Glu294ArgfsTer?) n.909del c.*138del (n.*138del) c.757del (p.Glu253ArgfsTer?) c.808del (p.Glu270ArgfsTer?) c.3del n.977del c.646del (p.Glu216ArgfsTer?) c.802del (p.Glu268ArgfsTer?) n.927del | dbSNP |
| 19 | g.45364056C>A | CA507953560 | ERCC2 | c.879G>T (p.Arg293=) n.908G>T c.*137G>T (n.*137G>T) c.756G>T (p.Arg252=) c.807G>T (p.Arg269=) c.2G>T n.976G>T c.645G>T (p.Arg215=) c.801G>T (p.Arg267=) n.926G>T | |
| 19 | g.45364056C>G | CA507953559 | ERCC2 | c.879G>C (p.Arg293=) n.908G>C c.*137G>C (n.*137G>C) c.756G>C (p.Arg252=) c.807G>C (p.Arg269=) c.2G>C n.976G>C c.645G>C (p.Arg215=) c.801G>C (p.Arg267=) n.926G>C | |
| 19 | g.45364056C>T | CA507953556 | ERCC2 | c.879G>A (p.Arg293=) n.908G>A c.*137G>A (n.*137G>A) c.756G>A (p.Arg252=) c.807G>A (p.Arg269=) c.2G>A n.976G>A c.645G>A (p.Arg215=) c.801G>A (p.Arg267=) n.926G>A | |
| 19 | g.45364057C>A | CA406373586 | ERCC2 | c.878G>T (p.Arg293Leu) n.907G>T c.*136G>T (n.*136G>T) c.755G>T (p.Arg252Leu) c.806G>T (p.Arg269Leu) c.1G>T n.975G>T c.644G>T (p.Arg215Leu) c.800G>T (p.Arg267Leu) n.925G>T | dbSNP gnomAD v4 |
| 19 | g.45364057C= | CA2338395722 | ERCC2 | c.878G= (p.Arg293=) n.907G= c.*136G= (n.*136G=) c.755G= (p.Arg252=) c.806G= (p.Arg269=) c.1G= n.975G= c.644G= (p.Arg215=) c.800G= (p.Arg267=) n.925G= | |
| 19 | g.45364057C>G | CA406373588 | ERCC2 | c.878G>C (p.Arg293Pro) n.907G>C c.*136G>C (n.*136G>C) c.755G>C (p.Arg252Pro) c.806G>C (p.Arg269Pro) c.1G>C n.975G>C c.644G>C (p.Arg215Pro) c.800G>C (p.Arg267Pro) n.925G>C | gnomAD v4 |
| 19 | g.45364057C>T | CA406373584 | ERCC2 | c.878G>A (p.Arg293Gln) n.907G>A c.*136G>A (n.*136G>A) c.755G>A (p.Arg252Gln) c.806G>A (p.Arg269Gln) c.1G>A n.975G>A c.644G>A (p.Arg215Gln) c.800G>A (p.Arg267Gln) n.925G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.45364058G>A | CA406373590 | ERCC2 | c.877C>T (p.Arg293Trp) n.906C>T c.*135C>T (n.*135C>T) c.754C>T (p.Arg252Trp) c.805C>T (p.Arg269Trp) n.974C>T c.643C>T (p.Arg215Trp) c.799C>T (p.Arg267Trp) n.924C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364058G>C | CA406373591 | ERCC2 | c.877C>G (p.Arg293Gly) n.906C>G c.*135C>G (n.*135C>G) c.754C>G (p.Arg252Gly) c.805C>G (p.Arg269Gly) n.974C>G c.643C>G (p.Arg215Gly) c.799C>G (p.Arg267Gly) n.924C>G | dbSNP |
| 19 | g.45364058G= | CA2338395723 | ERCC2 | c.877C= (p.Arg293=) n.906C= c.*135C= (n.*135C=) c.754C= (p.Arg252=) c.805C= (p.Arg269=) n.974C= c.643C= (p.Arg215=) c.799C= (p.Arg267=) n.924C= | |
| 19 | g.45364058G>T | CA507953561 | ERCC2 | c.877C>A (p.Arg293=) n.906C>A c.*135C>A (n.*135C>A) c.754C>A (p.Arg252=) c.805C>A (p.Arg269=) n.974C>A c.643C>A (p.Arg215=) c.799C>A (p.Arg267=) n.924C>A | gnomAD v4 |
| 19 | g.45364059C>A | CA507953563 | ERCC2 | c.876G>T (p.Leu292=) n.905G>T c.*134G>T (n.*134G>T) c.753G>T (p.Leu251=) c.804G>T (p.Leu268=) n.973G>T c.642G>T (p.Leu214=) c.798G>T (p.Leu266=) n.923G>T | gnomAD v4 |
| 19 | g.45364059C>G | CA507953565 | ERCC2 | c.876G>C (p.Leu292=) n.905G>C c.*134G>C (n.*134G>C) c.753G>C (p.Leu251=) c.804G>C (p.Leu268=) n.973G>C c.642G>C (p.Leu214=) c.798G>C (p.Leu266=) n.923G>C | |
| 19 | g.45364059C>T | CA507953567 | ERCC2 | c.876G>A (p.Leu292=) n.905G>A c.*134G>A (n.*134G>A) c.753G>A (p.Leu251=) c.804G>A (p.Leu268=) n.973G>A c.642G>A (p.Leu214=) c.798G>A (p.Leu266=) n.923G>A | |
| 19 | g.45364060A>C | CA406373594 | ERCC2 | c.875T>G (p.Leu292Arg) n.904T>G c.*133T>G (n.*133T>G) c.752T>G (p.Leu251Arg) c.803T>G (p.Leu268Arg) n.972T>G c.641T>G (p.Leu214Arg) c.797T>G (p.Leu266Arg) n.922T>G | dbSNP |
| 19 | g.45364060A>G | CA406373596 | ERCC2 | c.875T>C (p.Leu292Pro) n.904T>C c.*133T>C (n.*133T>C) c.752T>C (p.Leu251Pro) c.803T>C (p.Leu268Pro) n.972T>C c.641T>C (p.Leu214Pro) c.797T>C (p.Leu266Pro) n.922T>C | ClinVar gnomAD v4 |
| 19 | g.45364060A>T | CA406373598 | ERCC2 | c.875T>A (p.Leu292Gln) n.904T>A c.*133T>A (n.*133T>A) c.752T>A (p.Leu251Gln) c.803T>A (p.Leu268Gln) n.972T>A c.641T>A (p.Leu214Gln) c.797T>A (p.Leu266Gln) n.922T>A | |
| 19 | g.45364061G>A | CA507953568 | ERCC2 | c.874C>T (p.Leu292=) n.903C>T c.*132C>T (n.*132C>T) c.751C>T (p.Leu251=) c.802C>T (p.Leu268=) n.971C>T c.640C>T (p.Leu214=) c.796C>T (p.Leu266=) n.921C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364061G>C | CA406373600 | ERCC2 | c.874C>G (p.Leu292Val) n.903C>G c.*132C>G (n.*132C>G) c.751C>G (p.Leu251Val) c.802C>G (p.Leu268Val) n.971C>G c.640C>G (p.Leu214Val) c.796C>G (p.Leu266Val) n.921C>G | |
| 19 | g.45364061G= | CA2338395724 | ERCC2 | c.874C= (p.Leu292=) n.903C= c.*132C= (n.*132C=) c.751C= (p.Leu251=) c.802C= (p.Leu268=) n.971C= c.640C= (p.Leu214=) c.796C= (p.Leu266=) n.921C= | |
| 19 | g.45364061G>T | CA406373602 | ERCC2 | c.874C>A (p.Leu292Met) n.903C>A c.*132C>A (n.*132C>A) c.751C>A (p.Leu251Met) c.802C>A (p.Leu268Met) n.971C>A c.640C>A (p.Leu214Met) c.796C>A (p.Leu266Met) n.921C>A | gnomAD v4 |
| 19 | g.45364062C>A | CA507953569 | ERCC2 | c.873G>T (p.Gly291=) n.902G>T c.*131G>T (n.*131G>T) c.750G>T (p.Gly250=) c.801G>T (p.Gly267=) n.970G>T c.639G>T (p.Gly213=) c.795G>T (p.Gly265=) n.920G>T | ClinVar gnomAD v4 |
| 19 | g.45364062C= | CA2338395725 | ERCC2 | c.873G= (p.Gly291=) n.902G= c.*131G= (n.*131G=) c.750G= (p.Gly250=) c.801G= (p.Gly267=) n.970G= c.639G= (p.Gly213=) c.795G= (p.Gly265=) n.920G= | |
| 19 | g.45364062C>G | CA507953573 | ERCC2 | c.873G>C (p.Gly291=) n.902G>C c.*131G>C (n.*131G>C) c.750G>C (p.Gly250=) c.801G>C (p.Gly267=) n.970G>C c.639G>C (p.Gly213=) c.795G>C (p.Gly265=) n.920G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364062C>T | CA9513589 | ERCC2 | c.873G>A (p.Gly291=) n.902G>A c.*131G>A (n.*131G>A) c.750G>A (p.Gly250=) c.801G>A (p.Gly267=) n.970G>A c.639G>A (p.Gly213=) c.795G>A (p.Gly265=) n.920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364063C>A | CA406373608 | ERCC2 | c.872G>T (p.Gly291Val) n.901G>T c.*130G>T (n.*130G>T) c.749G>T (p.Gly250Val) c.800G>T (p.Gly267Val) n.969G>T c.638G>T (p.Gly213Val) c.794G>T (p.Gly265Val) n.919G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364063C= | CA2338395726 | ERCC2 | c.872G= (p.Gly291=) n.901G= c.*130G= (n.*130G=) c.749G= (p.Gly250=) c.800G= (p.Gly267=) n.969G= c.638G= (p.Gly213=) c.794G= (p.Gly265=) n.919G= | |
| 19 | g.45364063C>G | CA406373609 | ERCC2 | c.872G>C (p.Gly291Ala) n.901G>C c.*130G>C (n.*130G>C) c.749G>C (p.Gly250Ala) c.800G>C (p.Gly267Ala) n.969G>C c.638G>C (p.Gly213Ala) c.794G>C (p.Gly265Ala) n.919G>C | |
| 19 | g.45364063C>T | CA406373611 | ERCC2 | c.872G>A (p.Gly291Glu) n.901G>A c.*130G>A (n.*130G>A) c.749G>A (p.Gly250Glu) c.800G>A (p.Gly267Glu) n.969G>A c.638G>A (p.Gly213Glu) c.794G>A (p.Gly265Glu) n.919G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364064C>A | CA406373614 | ERCC2 | c.871G>T (p.Gly291Trp) n.900G>T c.*129G>T (n.*129G>T) c.748G>T (p.Gly250Trp) c.799G>T (p.Gly267Trp) n.968G>T c.637G>T (p.Gly213Trp) c.793G>T (p.Gly265Trp) n.918G>T | |
| 19 | g.45364064C>G | CA406373615 | ERCC2 | c.871G>C (p.Gly291Arg) n.900G>C c.*129G>C (n.*129G>C) c.748G>C (p.Gly250Arg) c.799G>C (p.Gly267Arg) n.968G>C c.637G>C (p.Gly213Arg) c.793G>C (p.Gly265Arg) n.918G>C | |
| 19 | g.45364064C>T | CA406373618 | ERCC2 | c.871G>A (p.Gly291Arg) n.900G>A c.*129G>A (n.*129G>A) c.748G>A (p.Gly250Arg) c.799G>A (p.Gly267Arg) n.968G>A c.637G>A (p.Gly213Arg) c.793G>A (p.Gly265Arg) n.918G>A | |
| 19 | g.45364065C>A | CA406373619 | ERCC2 | c.870G>T (p.Glu290Asp) n.899G>T c.*128G>T (n.*128G>T) c.747G>T (p.Glu249Asp) c.798G>T (p.Glu266Asp) n.967G>T c.636G>T (p.Glu212Asp) c.792G>T (p.Glu264Asp) n.917G>T | |
| 19 | g.45364065C= | CA2338395727 | ERCC2 | c.870G= (p.Glu290=) n.899G= c.*128G= (n.*128G=) c.747G= (p.Glu249=) c.798G= (p.Glu266=) n.967G= c.636G= (p.Glu212=) c.792G= (p.Glu264=) n.917G= | |
| 19 | g.45364065C>G | CA406373620 | ERCC2 | c.870G>C (p.Glu290Asp) n.899G>C c.*128G>C (n.*128G>C) c.747G>C (p.Glu249Asp) c.798G>C (p.Glu266Asp) n.967G>C c.636G>C (p.Glu212Asp) c.792G>C (p.Glu264Asp) n.917G>C | |
| 19 | g.45364065C>T | CA507953577 | ERCC2 | c.870G>A (p.Glu290=) n.899G>A c.*128G>A (n.*128G>A) c.747G>A (p.Glu249=) c.798G>A (p.Glu266=) n.967G>A c.636G>A (p.Glu212=) c.792G>A (p.Glu264=) n.917G>A | dbSNP gnomAD v2 |
| 19 | g.45364066T>A | CA406373622 | ERCC2 | c.869A>T (p.Glu290Val) n.898A>T c.*127A>T (n.*127A>T) c.746A>T (p.Glu249Val) c.797A>T (p.Glu266Val) n.966A>T c.635A>T (p.Glu212Val) c.791A>T (p.Glu264Val) n.916A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364066T>C | CA406373625 | ERCC2 | c.869A>G (p.Glu290Gly) n.898A>G c.*127A>G (n.*127A>G) c.746A>G (p.Glu249Gly) c.797A>G (p.Glu266Gly) n.966A>G c.635A>G (p.Glu212Gly) c.791A>G (p.Glu264Gly) n.916A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364066T>G | CA406373627 | ERCC2 | c.869A>C (p.Glu290Ala) n.898A>C c.*127A>C (n.*127A>C) c.746A>C (p.Glu249Ala) c.797A>C (p.Glu266Ala) n.966A>C c.635A>C (p.Glu212Ala) c.791A>C (p.Glu264Ala) n.916A>C | |
| 19 | g.45364066T= | CA2338395728 | ERCC2 | c.869A= (p.Glu290=) n.898A= c.*127A= (n.*127A=) c.746A= (p.Glu249=) c.797A= (p.Glu266=) n.966A= c.635A= (p.Glu212=) c.791A= (p.Glu264=) n.916A= | |
| 19 | g.45364067C>A | CA406373631 | ERCC2 | c.868G>T (p.Glu290Ter) n.897G>T c.*126G>T (n.*126G>T) c.745G>T (p.Glu249Ter) c.796G>T (p.Glu266Ter) n.965G>T c.634G>T (p.Glu212Ter) c.790G>T (p.Glu264Ter) n.915G>T | |
| 19 | g.45364067C>G | CA406373633 | ERCC2 | c.868G>C (p.Glu290Gln) n.897G>C c.*126G>C (n.*126G>C) c.745G>C (p.Glu249Gln) c.796G>C (p.Glu266Gln) n.965G>C c.634G>C (p.Glu212Gln) c.790G>C (p.Glu264Gln) n.915G>C | |
| 19 | g.45364067C>T | CA406373635 | ERCC2 | c.868G>A (p.Glu290Lys) n.897G>A c.*126G>A (n.*126G>A) c.745G>A (p.Glu249Lys) c.796G>A (p.Glu266Lys) n.965G>A c.634G>A (p.Glu212Lys) c.790G>A (p.Glu264Lys) n.915G>A | |
| 19 | g.45364068C>A | CA507953578 | ERCC2 | c.867G>T (p.Val289=) n.896G>T c.*125G>T (n.*125G>T) c.744G>T (p.Val248=) c.795G>T (p.Val265=) n.964G>T c.633G>T (p.Val211=) c.789G>T (p.Val263=) n.914G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364068C= | CA2338395729 | ERCC2 | c.867G= (p.Val289=) n.896G= c.*125G= (n.*125G=) c.744G= (p.Val248=) c.795G= (p.Val265=) n.964G= c.633G= (p.Val211=) c.789G= (p.Val263=) n.914G= | |
| 19 | g.45364068C>G | CA507953585 | ERCC2 | c.867G>C (p.Val289=) n.896G>C c.*125G>C (n.*125G>C) c.744G>C (p.Val248=) c.795G>C (p.Val265=) n.964G>C c.633G>C (p.Val211=) c.789G>C (p.Val263=) n.914G>C | |
| 19 | g.45364068C>T | CA507953586 | ERCC2 | c.867G>A (p.Val289=) n.896G>A c.*125G>A (n.*125G>A) c.744G>A (p.Val248=) c.795G>A (p.Val265=) n.964G>A c.633G>A (p.Val211=) c.789G>A (p.Val263=) n.914G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364069A= | CA2338395730 | ERCC2 | c.866T= (p.Val289=) n.895T= c.*124T= (n.*124T=) c.743T= (p.Val248=) c.794T= (p.Val265=) n.963T= c.632T= (p.Val211=) c.788T= (p.Val263=) n.913T= | |
| 19 | g.45364069A>C | CA406373638 | ERCC2 | c.866T>G (p.Val289Gly) n.895T>G c.*124T>G (n.*124T>G) c.743T>G (p.Val248Gly) c.794T>G (p.Val265Gly) n.963T>G c.632T>G (p.Val211Gly) c.788T>G (p.Val263Gly) n.913T>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364069A>G | CA406373639 | ERCC2 | c.866T>C (p.Val289Ala) n.895T>C c.*124T>C (n.*124T>C) c.743T>C (p.Val248Ala) c.794T>C (p.Val265Ala) n.963T>C c.632T>C (p.Val211Ala) c.788T>C (p.Val263Ala) n.913T>C | |
| 19 | g.45364069A>T | CA406373640 | ERCC2 | c.866T>A (p.Val289Glu) n.895T>A c.*124T>A (n.*124T>A) c.743T>A (p.Val248Glu) c.794T>A (p.Val265Glu) n.963T>A c.632T>A (p.Val211Glu) c.788T>A (p.Val263Glu) n.913T>A | |
| 19 | g.45364071_45364083del | CA2580097411 | ERCC2 | c.854_866del (p.Tyr285TrpfsTer?) n.883_895del c.*112_*124del (n.*112_*124del) c.731_743del (p.Tyr244TrpfsTer?) c.782_794del (p.Tyr261TrpfsTer?) n.951_963del c.620_632del (p.Tyr207TrpfsTer?) c.776_788del (p.Tyr259TrpfsTer?) n.901_913del | ClinVar |
| 19 | g.45364070C>A | CA406373644 | ERCC2 | c.865G>T (p.Val289Leu) n.894G>T c.*123G>T (n.*123G>T) c.742G>T (p.Val248Leu) c.793G>T (p.Val265Leu) n.962G>T c.631G>T (p.Val211Leu) c.787G>T (p.Val263Leu) n.912G>T | |
| 19 | g.45364070C= | CA2338395731 | ERCC2 | c.865G= (p.Val289=) n.894G= c.*123G= (n.*123G=) c.742G= (p.Val248=) c.793G= (p.Val265=) n.962G= c.631G= (p.Val211=) c.787G= (p.Val263=) n.912G= | |
| 19 | g.45364070C>G | CA406373646 | ERCC2 | c.865G>C (p.Val289Leu) n.894G>C c.*123G>C (n.*123G>C) c.742G>C (p.Val248Leu) c.793G>C (p.Val265Leu) n.962G>C c.631G>C (p.Val211Leu) c.787G>C (p.Val263Leu) n.912G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364070C>T | CA406373648 | ERCC2 | c.865G>A (p.Val289Met) n.894G>A c.*123G>A (n.*123G>A) c.742G>A (p.Val248Met) c.793G>A (p.Val265Met) n.962G>A c.631G>A (p.Val211Met) c.787G>A (p.Val263Met) n.912G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364071C>A | CA507953592 | ERCC2 | c.864G>T (p.Leu288=) n.893G>T c.*122G>T (n.*122G>T) c.741G>T (p.Leu247=) c.792G>T (p.Leu264=) n.961G>T c.630G>T (p.Leu210=) c.786G>T (p.Leu262=) n.911G>T | gnomAD v4 |
| 19 | g.45364071C= | CA2338395732 | ERCC2 | c.864G= (p.Leu288=) n.893G= c.*122G= (n.*122G=) c.741G= (p.Leu247=) c.792G= (p.Leu264=) n.961G= c.630G= (p.Leu210=) c.786G= (p.Leu262=) n.911G= | |
| 19 | g.45364071C>G | CA507953591 | ERCC2 | c.864G>C (p.Leu288=) n.893G>C c.*122G>C (n.*122G>C) c.741G>C (p.Leu247=) c.792G>C (p.Leu264=) n.961G>C c.630G>C (p.Leu210=) c.786G>C (p.Leu262=) n.911G>C | |
| 19 | g.45364071C>T | CA507953589 | ERCC2 | c.864G>A (p.Leu288=) n.893G>A c.*122G>A (n.*122G>A) c.741G>A (p.Leu247=) c.792G>A (p.Leu264=) n.961G>A c.630G>A (p.Leu210=) c.786G>A (p.Leu262=) n.911G>A | ClinVar dbSNP gnomAD v2 |
| 19 | g.45364072A>C | CA406373655 | ERCC2 | c.863T>G (p.Leu288Arg) n.892T>G c.*121T>G (n.*121T>G) c.740T>G (p.Leu247Arg) c.791T>G (p.Leu264Arg) n.960T>G c.629T>G (p.Leu210Arg) c.785T>G (p.Leu262Arg) n.910T>G | |
| 19 | g.45364072A>G | CA406373653 | ERCC2 | c.863T>C (p.Leu288Pro) n.892T>C c.*121T>C (n.*121T>C) c.740T>C (p.Leu247Pro) c.791T>C (p.Leu264Pro) n.960T>C c.629T>C (p.Leu210Pro) c.785T>C (p.Leu262Pro) n.910T>C | gnomAD v4 |
| 19 | g.45364072A>T | CA406373651 | ERCC2 | c.863T>A (p.Leu288Gln) n.892T>A c.*121T>A (n.*121T>A) c.740T>A (p.Leu247Gln) c.791T>A (p.Leu264Gln) n.960T>A c.629T>A (p.Leu210Gln) c.785T>A (p.Leu262Gln) n.910T>A | |
| 19 | g.45364073G>A | CA507953594 | ERCC2 | c.862C>T (p.Leu288=) n.891C>T c.*120C>T (n.*120C>T) c.739C>T (p.Leu247=) c.790C>T (p.Leu264=) n.959C>T c.628C>T (p.Leu210=) c.784C>T (p.Leu262=) n.909C>T | dbSNP |
| 19 | g.45364073G>C | CA406373658 | ERCC2 | c.862C>G (p.Leu288Val) n.891C>G c.*120C>G (n.*120C>G) c.739C>G (p.Leu247Val) c.790C>G (p.Leu264Val) n.959C>G c.628C>G (p.Leu210Val) c.784C>G (p.Leu262Val) n.909C>G | dbSNP |
| 19 | g.45364073G>T | CA406373659 | ERCC2 | c.862C>A (p.Leu288Met) n.891C>A c.*120C>A (n.*120C>A) c.739C>A (p.Leu247Met) c.790C>A (p.Leu264Met) n.959C>A c.628C>A (p.Leu210Met) c.784C>A (p.Leu262Met) n.909C>A | dbSNP |
| 19 | g.45364074A>C | CA507953596 | ERCC2 | c.861T>G (p.Arg287=) n.890T>G c.*119T>G (n.*119T>G) c.738T>G (p.Arg246=) c.789T>G (p.Arg263=) n.958T>G c.627T>G (p.Arg209=) c.783T>G (p.Arg261=) n.908T>G | |
| 19 | g.45364074A>G | CA507953598 | ERCC2 | c.861T>C (p.Arg287=) n.890T>C c.*119T>C (n.*119T>C) c.738T>C (p.Arg246=) c.789T>C (p.Arg263=) n.958T>C c.627T>C (p.Arg209=) c.783T>C (p.Arg261=) n.908T>C | |
| 19 | g.45364074A>T | CA507953599 | ERCC2 | c.861T>A (p.Arg287=) n.890T>A c.*119T>A (n.*119T>A) c.738T>A (p.Arg246=) c.789T>A (p.Arg263=) n.958T>A c.627T>A (p.Arg209=) c.783T>A (p.Arg261=) n.908T>A | |
| 19 | g.45364075C>A | CA406373663 | ERCC2 | c.860G>T (p.Arg287Leu) n.889G>T c.*118G>T (n.*118G>T) c.737G>T (p.Arg246Leu) c.788G>T (p.Arg263Leu) n.957G>T c.626G>T (p.Arg209Leu) c.782G>T (p.Arg261Leu) n.907G>T | |
| 19 | g.45364075C= | CA2338395733 | ERCC2 | c.860G= (p.Arg287=) n.889G= c.*118G= (n.*118G=) c.737G= (p.Arg246=) c.788G= (p.Arg263=) n.957G= c.626G= (p.Arg209=) c.782G= (p.Arg261=) n.907G= | |
| 19 | g.45364075C>G | CA406373666 | ERCC2 | c.860G>C (p.Arg287Pro) n.889G>C c.*118G>C (n.*118G>C) c.737G>C (p.Arg246Pro) c.788G>C (p.Arg263Pro) n.957G>C c.626G>C (p.Arg209Pro) c.782G>C (p.Arg261Pro) n.907G>C | |
| 19 | g.45364075C>T | CA9513590 | ERCC2 | c.860G>A (p.Arg287His) n.889G>A c.*118G>A (n.*118G>A) c.737G>A (p.Arg246His) c.788G>A (p.Arg263His) n.957G>A c.626G>A (p.Arg209His) c.782G>A (p.Arg261His) n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364076G>A | CA406373669 | ERCC2 | c.859C>T (p.Arg287Cys) n.888C>T c.*117C>T (n.*117C>T) c.736C>T (p.Arg246Cys) c.787C>T (p.Arg263Cys) n.956C>T c.625C>T (p.Arg209Cys) c.781C>T (p.Arg261Cys) n.906C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.45364076G>C | CA406373671 | ERCC2 | c.859C>G (p.Arg287Gly) n.888C>G c.*117C>G (n.*117C>G) c.736C>G (p.Arg246Gly) c.787C>G (p.Arg263Gly) n.956C>G c.625C>G (p.Arg209Gly) c.781C>G (p.Arg261Gly) n.906C>G | |
| 19 | g.45364076G= | CA2338395734 | ERCC2 | c.859C= (p.Arg287=) n.888C= c.*117C= (n.*117C=) c.736C= (p.Arg246=) c.787C= (p.Arg263=) n.956C= c.625C= (p.Arg209=) c.781C= (p.Arg261=) n.906C= | |
| 19 | g.45364076G>T | CA406373673 | ERCC2 | c.859C>A (p.Arg287Ser) n.888C>A c.*117C>A (n.*117C>A) c.736C>A (p.Arg246Ser) c.787C>A (p.Arg263Ser) n.956C>A c.625C>A (p.Arg209Ser) c.781C>A (p.Arg261Ser) n.906C>A | gnomAD v4 |
| 19 | g.45364077C>A | CA507953603 | ERCC2 | c.858G>T (p.Arg286=) n.887G>T c.*116G>T (n.*116G>T) c.735G>T (p.Arg245=) c.786G>T (p.Arg262=) n.955G>T c.624G>T (p.Arg208=) c.780G>T (p.Arg260=) n.905G>T | |
| 19 | g.45364077C= | CA2338395735 | ERCC2 | c.858G= (p.Arg286=) n.887G= c.*116G= (n.*116G=) c.735G= (p.Arg245=) c.786G= (p.Arg262=) n.955G= c.624G= (p.Arg208=) c.780G= (p.Arg260=) n.905G= | |
| 19 | g.45364077C>G | CA507953605 | ERCC2 | c.858G>C (p.Arg286=) n.887G>C c.*116G>C (n.*116G>C) c.735G>C (p.Arg245=) c.786G>C (p.Arg262=) n.955G>C c.624G>C (p.Arg208=) c.780G>C (p.Arg260=) n.905G>C | |
| 19 | g.45364077C>T | CA507953607 | ERCC2 | c.858G>A (p.Arg286=) n.887G>A c.*116G>A (n.*116G>A) c.735G>A (p.Arg245=) c.786G>A (p.Arg262=) n.955G>A c.624G>A (p.Arg208=) c.780G>A (p.Arg260=) n.905G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364078C>A | CA406373676 | ERCC2 | c.857G>T (p.Arg286Leu) n.886G>T c.*115G>T (n.*115G>T) c.734G>T (p.Arg245Leu) c.785G>T (p.Arg262Leu) n.954G>T c.623G>T (p.Arg208Leu) c.779G>T (p.Arg260Leu) n.904G>T | gnomAD v4 |
| 19 | g.45364078C= | CA2338395736 | ERCC2 | c.857G= (p.Arg286=) n.886G= c.*115G= (n.*115G=) c.734G= (p.Arg245=) c.785G= (p.Arg262=) n.954G= c.623G= (p.Arg208=) c.779G= (p.Arg260=) n.904G= | |
| 19 | g.45364078C>G | CA308966814 | ERCC2 | c.857G>C (p.Arg286Pro) n.886G>C c.*115G>C (n.*115G>C) c.734G>C (p.Arg245Pro) c.785G>C (p.Arg262Pro) n.954G>C c.623G>C (p.Arg208Pro) c.779G>C (p.Arg260Pro) n.904G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364078C>T | CA406373679 | ERCC2 | c.857G>A (p.Arg286Gln) n.886G>A c.*115G>A (n.*115G>A) c.734G>A (p.Arg245Gln) c.785G>A (p.Arg262Gln) n.954G>A c.623G>A (p.Arg208Gln) c.779G>A (p.Arg260Gln) n.904G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364079G>A | CA406373681 | ERCC2 | c.856C>T (p.Arg286Trp) n.885C>T c.*114C>T (n.*114C>T) c.733C>T (p.Arg245Trp) c.784C>T (p.Arg262Trp) n.953C>T c.622C>T (p.Arg208Trp) c.778C>T (p.Arg260Trp) n.903C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.45364079G>C | CA406373683 | ERCC2 | c.856C>G (p.Arg286Gly) n.885C>G c.*114C>G (n.*114C>G) c.733C>G (p.Arg245Gly) c.784C>G (p.Arg262Gly) n.953C>G c.622C>G (p.Arg208Gly) c.778C>G (p.Arg260Gly) n.903C>G | |
| 19 | g.45364079G= | CA2338395737 | ERCC2 | c.856C= (p.Arg286=) n.885C= c.*114C= (n.*114C=) c.733C= (p.Arg245=) c.784C= (p.Arg262=) n.953C= c.622C= (p.Arg208=) c.778C= (p.Arg260=) n.903C= | |
| 19 | g.45364079G>T | CA507953609 | ERCC2 | c.856C>A (p.Arg286=) n.885C>A c.*114C>A (n.*114C>A) c.733C>A (p.Arg245=) c.784C>A (p.Arg262=) n.953C>A c.622C>A (p.Arg208=) c.778C>A (p.Arg260=) n.903C>A | |
| 19 | g.45364080G>A | CA507953612 | ERCC2 | c.855C>T (p.Tyr285=) n.884C>T c.*113C>T (n.*113C>T) c.732C>T (p.Tyr244=) c.783C>T (p.Tyr261=) n.952C>T c.621C>T (p.Tyr207=) c.777C>T (p.Tyr259=) n.902C>T | ClinVar gnomAD v4 |
| 19 | g.45364080G>C | CA406373686 | ERCC2 | c.855C>G (p.Tyr285Ter) n.884C>G c.*113C>G (n.*113C>G) c.732C>G (p.Tyr244Ter) c.783C>G (p.Tyr261Ter) n.952C>G c.621C>G (p.Tyr207Ter) c.777C>G (p.Tyr259Ter) n.902C>G | |
| 19 | g.45364080G>T | CA406373687 | ERCC2 | c.855C>A (p.Tyr285Ter) n.884C>A c.*113C>A (n.*113C>A) c.732C>A (p.Tyr244Ter) c.783C>A (p.Tyr261Ter) n.952C>A c.621C>A (p.Tyr207Ter) c.777C>A (p.Tyr259Ter) n.902C>A | |
| 19 | g.45364081T>A | CA406373690 | ERCC2 | c.854A>T (p.Tyr285Phe) n.883A>T c.*112A>T (n.*112A>T) c.731A>T (p.Tyr244Phe) c.782A>T (p.Tyr261Phe) n.951A>T c.620A>T (p.Tyr207Phe) c.776A>T (p.Tyr259Phe) n.901A>T | |
| 19 | g.45364081T>C | CA406373692 | ERCC2 | c.854A>G (p.Tyr285Cys) n.883A>G c.*112A>G (n.*112A>G) c.731A>G (p.Tyr244Cys) c.782A>G (p.Tyr261Cys) n.951A>G c.620A>G (p.Tyr207Cys) c.776A>G (p.Tyr259Cys) n.901A>G | |
| 19 | g.45364081T>G | CA406373693 | ERCC2 | c.854A>C (p.Tyr285Ser) n.883A>C c.*112A>C (n.*112A>C) c.731A>C (p.Tyr244Ser) c.782A>C (p.Tyr261Ser) n.951A>C c.620A>C (p.Tyr207Ser) c.776A>C (p.Tyr259Ser) n.901A>C | ClinVar gnomAD v4 |
| 19 | g.45364082A= | CA2338395739 | ERCC2 | c.853T= (p.Tyr285=) n.882T= c.*111T= (n.*111T=) c.730T= (p.Tyr244=) c.781T= (p.Tyr261=) n.950T= c.619T= (p.Tyr207=) c.775T= (p.Tyr259=) n.900T= | |
| 19 | g.45364082A>C | CA406373701 | ERCC2 | c.853T>G (p.Tyr285Asp) n.882T>G c.*111T>G (n.*111T>G) c.730T>G (p.Tyr244Asp) c.781T>G (p.Tyr261Asp) n.950T>G c.619T>G (p.Tyr207Asp) c.775T>G (p.Tyr259Asp) n.900T>G | dbSNP |
| 19 | g.45364082A>G | CA406373699 | ERCC2 | c.853T>C (p.Tyr285His) n.882T>C c.*111T>C (n.*111T>C) c.730T>C (p.Tyr244His) c.781T>C (p.Tyr261His) n.950T>C c.619T>C (p.Tyr207His) c.775T>C (p.Tyr259His) n.900T>C | dbSNP |
| 19 | g.45364082A>T | CA406373697 | ERCC2 | c.853T>A (p.Tyr285Asn) n.882T>A c.*111T>A (n.*111T>A) c.730T>A (p.Tyr244Asn) c.781T>A (p.Tyr261Asn) n.950T>A c.619T>A (p.Tyr207Asn) c.775T>A (p.Tyr259Asn) n.900T>A | |
| 19 | g.45364082_45364083delinsAC | CA2338395738 | ERCC2 | c.852_853delinsGT (p.Glu284=) n.881_882delinsGT c.*110_*111delinsGT (n.*110_*111delinsGT) c.729_730delinsGT (p.Glu243=) c.780_781delinsGT (p.Glu260=) n.949_950delinsGT c.618_619delinsGT (p.Glu206=) c.774_775delinsGT (p.Glu258=) n.899_900delinsGT | |
| 19 | g.45364083del | CA633479975 | ERCC2 | c.852del (p.Glu284AspfsTer?) n.881del c.*110del (n.*110del) c.729del (p.Glu243AspfsTer?) c.780del (p.Glu260AspfsTer?) n.949del c.618del (p.Glu206AspfsTer?) c.774del (p.Glu258AspfsTer?) n.899del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364083C>A | CA406373703 | ERCC2 | c.852G>T (p.Glu284Asp) n.881G>T c.*110G>T (n.*110G>T) c.729G>T (p.Glu243Asp) c.780G>T (p.Glu260Asp) n.949G>T c.618G>T (p.Glu206Asp) c.774G>T (p.Glu258Asp) n.899G>T | gnomAD v4 |
| 19 | g.45364083C= | CA2338395740 | ERCC2 | c.852G= (p.Glu284=) n.881G= c.*110G= (n.*110G=) c.729G= (p.Glu243=) c.780G= (p.Glu260=) n.949G= c.618G= (p.Glu206=) c.774G= (p.Glu258=) n.899G= | |
| 19 | g.45364083C>G | CA406373705 | ERCC2 | c.852G>C (p.Glu284Asp) n.881G>C c.*110G>C (n.*110G>C) c.729G>C (p.Glu243Asp) c.780G>C (p.Glu260Asp) n.949G>C c.618G>C (p.Glu206Asp) c.774G>C (p.Glu258Asp) n.899G>C | |
| 19 | g.45364083C>T | CA507953618 | ERCC2 | c.852G>A (p.Glu284=) n.881G>A c.*110G>A (n.*110G>A) c.729G>A (p.Glu243=) c.780G>A (p.Glu260=) n.949G>A c.618G>A (p.Glu206=) c.774G>A (p.Glu258=) n.899G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364084del | CA2573156454 | ERCC2 | c.851del (p.Glu284GlyfsTer?) n.880del c.*109del (n.*109del) c.728del (p.Glu243GlyfsTer?) c.779del (p.Glu260GlyfsTer?) n.948del c.617del (p.Glu206GlyfsTer?) c.773del (p.Glu258GlyfsTer?) n.898del | ClinVar dbSNP |
| 19 | g.45364084T>A | CA406373708 | ERCC2 | c.851A>T (p.Glu284Val) n.880A>T c.*109A>T (n.*109A>T) c.728A>T (p.Glu243Val) c.779A>T (p.Glu260Val) n.948A>T c.617A>T (p.Glu206Val) c.773A>T (p.Glu258Val) n.898A>T | |
| 19 | g.45364084T>C | CA406373710 | ERCC2 | c.851A>G (p.Glu284Gly) n.880A>G c.*109A>G (n.*109A>G) c.728A>G (p.Glu243Gly) c.779A>G (p.Glu260Gly) n.948A>G c.617A>G (p.Glu206Gly) c.773A>G (p.Glu258Gly) n.898A>G | |
| 19 | g.45364084T>G | CA406373712 | ERCC2 | c.851A>C (p.Glu284Ala) n.880A>C c.*109A>C (n.*109A>C) c.728A>C (p.Glu243Ala) c.779A>C (p.Glu260Ala) n.948A>C c.617A>C (p.Glu206Ala) c.773A>C (p.Glu258Ala) n.898A>C | |
| 19 | g.45364085C>A | CA406373714 | ERCC2 | c.850G>T (p.Glu284Ter) n.879G>T c.*108G>T (n.*108G>T) c.727G>T (p.Glu243Ter) c.778G>T (p.Glu260Ter) n.947G>T c.616G>T (p.Glu206Ter) c.772G>T (p.Glu258Ter) n.897G>T | gnomAD v4 |
| 19 | g.45364085C= | CA2338395741 | ERCC2 | c.850G= (p.Glu284=) n.879G= c.*108G= (n.*108G=) c.727G= (p.Glu243=) c.778G= (p.Glu260=) n.947G= c.616G= (p.Glu206=) c.772G= (p.Glu258=) n.897G= | |
| 19 | g.45364085C>G | CA308966824 | ERCC2 | c.850G>C (p.Glu284Gln) n.879G>C c.*108G>C (n.*108G>C) c.727G>C (p.Glu243Gln) c.778G>C (p.Glu260Gln) n.947G>C c.616G>C (p.Glu206Gln) c.772G>C (p.Glu258Gln) n.897G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364085C>T | CA406373718 | ERCC2 | c.850G>A (p.Glu284Lys) n.879G>A c.*108G>A (n.*108G>A) c.727G>A (p.Glu243Lys) c.778G>A (p.Glu260Lys) n.947G>A c.616G>A (p.Glu206Lys) c.772G>A (p.Glu258Lys) n.897G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364086G>A | CA507953624 | ERCC2 | c.849C>T (p.Asp283=) n.878C>T c.*107C>T (n.*107C>T) c.726C>T (p.Asp242=) c.777C>T (p.Asp259=) n.946C>T c.615C>T (p.Asp205=) c.771C>T (p.Asp257=) n.896C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364086G>C | CA406373720 | ERCC2 | c.849C>G (p.Asp283Glu) n.878C>G c.*107C>G (n.*107C>G) c.726C>G (p.Asp242Glu) c.777C>G (p.Asp259Glu) n.946C>G c.615C>G (p.Asp205Glu) c.771C>G (p.Asp257Glu) n.896C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364086G= | CA2338395742 | ERCC2 | c.849C= (p.Asp283=) n.878C= c.*107C= (n.*107C=) c.726C= (p.Asp242=) c.777C= (p.Asp259=) n.946C= c.615C= (p.Asp205=) c.771C= (p.Asp257=) n.896C= | |
| 19 | g.45364086G>T | CA406373721 | ERCC2 | c.849C>A (p.Asp283Glu) n.878C>A c.*107C>A (n.*107C>A) c.726C>A (p.Asp242Glu) c.777C>A (p.Asp259Glu) n.946C>A c.615C>A (p.Asp205Glu) c.771C>A (p.Asp257Glu) n.896C>A | gnomAD v4 |
| 19 | g.45364086dup | CA2697556624 | ERCC2 | c.849dup (p.Glu284ArgfsTer?) n.878dup c.*107dup (n.*107dup) c.726dup (p.Glu243ArgfsTer?) c.777dup (p.Glu260ArgfsTer?) n.946dup c.615dup (p.Glu206ArgfsTer?) c.771dup (p.Glu258ArgfsTer?) n.896dup | ClinVar |
| 19 | g.45364087T>A | CA9513591 | ERCC2 | c.848A>T (p.Asp283Val) n.877A>T c.*106A>T (n.*106A>T) c.725A>T (p.Asp242Val) c.776A>T (p.Asp259Val) n.945A>T c.614A>T (p.Asp205Val) c.770A>T (p.Asp257Val) n.895A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364087T>C | CA406373724 | ERCC2 | c.848A>G (p.Asp283Gly) n.877A>G c.*106A>G (n.*106A>G) c.725A>G (p.Asp242Gly) c.776A>G (p.Asp259Gly) n.945A>G c.614A>G (p.Asp205Gly) c.770A>G (p.Asp257Gly) n.895A>G | COSMIC COSMIC |
| 19 | g.45364087T>G | CA406373725 | ERCC2 | c.848A>C (p.Asp283Ala) n.877A>C c.*106A>C (n.*106A>C) c.725A>C (p.Asp242Ala) c.776A>C (p.Asp259Ala) n.945A>C c.614A>C (p.Asp205Ala) c.770A>C (p.Asp257Ala) n.895A>C | ClinVar gnomAD v4 |
| 19 | g.45364087T= | CA2338395743 | ERCC2 | c.848A= (p.Asp283=) n.877A= c.*106A= (n.*106A=) c.725A= (p.Asp242=) c.776A= (p.Asp259=) n.945A= c.614A= (p.Asp205=) c.770A= (p.Asp257=) n.895A= | |
| 19 | g.45364088C>A | CA406373731 | ERCC2 | c.847G>T (p.Asp283Tyr) n.876G>T c.*105G>T (n.*105G>T) c.724G>T (p.Asp242Tyr) c.775G>T (p.Asp259Tyr) n.944G>T c.613G>T (p.Asp205Tyr) c.769G>T (p.Asp257Tyr) n.894G>T | |
| 19 | g.45364088C>G | CA406373733 | ERCC2 | c.847G>C (p.Asp283His) n.876G>C c.*105G>C (n.*105G>C) c.724G>C (p.Asp242His) c.775G>C (p.Asp259His) n.944G>C c.613G>C (p.Asp205His) c.769G>C (p.Asp257His) n.894G>C | |
| 19 | g.45364088C>T | CA406373728 | ERCC2 | c.847G>A (p.Asp283Asn) n.876G>A c.*105G>A (n.*105G>A) c.724G>A (p.Asp242Asn) c.775G>A (p.Asp259Asn) n.944G>A c.613G>A (p.Asp205Asn) c.769G>A (p.Asp257Asn) n.894G>A | gnomAD v4 |
| 19 | g.45364089C>A | CA507953627 | ERCC2 | c.846G>T (p.Arg282=) n.875G>T c.*104G>T (n.*104G>T) c.723G>T (p.Arg241=) c.774G>T (p.Arg258=) n.943G>T c.612G>T (p.Arg204=) c.768G>T (p.Arg256=) n.893G>T | ClinVar |
| 19 | g.45364089C= | CA2338395744 | ERCC2 | c.846G= (p.Arg282=) n.875G= c.*104G= (n.*104G=) c.723G= (p.Arg241=) c.774G= (p.Arg258=) n.943G= c.612G= (p.Arg204=) c.768G= (p.Arg256=) n.893G= | |
| 19 | g.45364089C>G | CA9513592 | ERCC2 | c.846G>C (p.Arg282=) n.875G>C c.*104G>C (n.*104G>C) c.723G>C (p.Arg241=) c.774G>C (p.Arg258=) n.943G>C c.612G>C (p.Arg204=) c.768G>C (p.Arg256=) n.893G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364089C>T | CA9513593 | ERCC2 | c.846G>A (p.Arg282=) n.875G>A c.*104G>A (n.*104G>A) c.723G>A (p.Arg241=) c.774G>A (p.Arg258=) n.943G>A c.612G>A (p.Arg204=) c.768G>A (p.Arg256=) n.893G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364090C>A | CA406373737 | ERCC2 | c.845G>T (p.Arg282Leu) n.874G>T c.*103G>T (n.*103G>T) c.722G>T (p.Arg241Leu) c.773G>T (p.Arg258Leu) n.942G>T c.611G>T (p.Arg204Leu) c.767G>T (p.Arg256Leu) n.892G>T | ClinVar |
| 19 | g.45364090C= | CA2338395745 | ERCC2 | c.845G= (p.Arg282=) n.874G= c.*103G= (n.*103G=) c.722G= (p.Arg241=) c.773G= (p.Arg258=) n.942G= c.611G= (p.Arg204=) c.767G= (p.Arg256=) n.892G= | |
| 19 | g.45364090C>G | CA406373740 | ERCC2 | c.845G>C (p.Arg282Pro) n.874G>C c.*103G>C (n.*103G>C) c.722G>C (p.Arg241Pro) c.773G>C (p.Arg258Pro) n.942G>C c.611G>C (p.Arg204Pro) c.767G>C (p.Arg256Pro) n.892G>C | ClinVar |
| 19 | g.45364090C>T | CA308966850 | ERCC2 | c.845G>A (p.Arg282Gln) n.874G>A c.*103G>A (n.*103G>A) c.722G>A (p.Arg241Gln) c.773G>A (p.Arg258Gln) n.942G>A c.611G>A (p.Arg204Gln) c.767G>A (p.Arg256Gln) n.892G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364091G>A | CA9513594 | ERCC2 | c.844C>T (p.Arg282Trp) n.873C>T c.*102C>T (n.*102C>T) c.721C>T (p.Arg241Trp) c.772C>T (p.Arg258Trp) n.941C>T c.610C>T (p.Arg204Trp) n.481C>T c.766C>T (p.Arg256Trp) n.891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.45364091G>C | CA406373744 | ERCC2 | c.844C>G (p.Arg282Gly) n.873C>G c.*102C>G (n.*102C>G) c.721C>G (p.Arg241Gly) c.772C>G (p.Arg258Gly) n.941C>G c.610C>G (p.Arg204Gly) n.481C>G c.766C>G (p.Arg256Gly) n.891C>G | |
| 19 | g.45364091G= | CA2338395746 | ERCC2 | c.844C= (p.Arg282=) n.873C= c.*102C= (n.*102C=) c.721C= (p.Arg241=) c.772C= (p.Arg258=) n.941C= c.610C= (p.Arg204=) n.481C= c.766C= (p.Arg256=) n.891C= | |
| 19 | g.45364091G>T | CA507953629 | ERCC2 | c.844C>A (p.Arg282=) n.873C>A c.*102C>A (n.*102C>A) c.721C>A (p.Arg241=) c.772C>A (p.Arg258=) n.941C>A c.610C>A (p.Arg204=) n.481C>A c.766C>A (p.Arg256=) n.891C>A | ClinVar gnomAD v4 |
| 19 | g.45364092C>A | CA507953635 | ERCC2 | c.843G>T (p.Leu281=) n.872G>T c.*101G>T (n.*101G>T) c.720G>T (p.Leu240=) c.771G>T (p.Leu257=) n.940G>T c.609G>T (p.Leu203=) n.480G>T c.765G>T (p.Leu255=) n.890G>T | gnomAD v4 |
| 19 | g.45364092C>G | CA507953633 | ERCC2 | c.843G>C (p.Leu281=) n.872G>C c.*101G>C (n.*101G>C) c.720G>C (p.Leu240=) c.771G>C (p.Leu257=) n.940G>C c.609G>C (p.Leu203=) n.480G>C c.765G>C (p.Leu255=) n.890G>C | |
| 19 | g.45364092C>T | CA507953631 | ERCC2 | c.843G>A (p.Leu281=) n.872G>A c.*101G>A (n.*101G>A) c.720G>A (p.Leu240=) c.771G>A (p.Leu257=) n.940G>A c.609G>A (p.Leu203=) n.480G>A c.765G>A (p.Leu255=) n.890G>A | |
| 19 | g.45364093A>C | CA406373746 | ERCC2 | c.842T>G (p.Leu281Arg) n.871T>G c.*100T>G (n.*100T>G) c.719T>G (p.Leu240Arg) c.770T>G (p.Leu257Arg) n.939T>G c.608T>G (p.Leu203Arg) n.479T>G c.764T>G (p.Leu255Arg) n.889T>G | |
| 19 | g.45364093A>G | CA406373748 | ERCC2 | c.842T>C (p.Leu281Pro) n.871T>C c.*100T>C (n.*100T>C) c.719T>C (p.Leu240Pro) c.770T>C (p.Leu257Pro) n.939T>C c.608T>C (p.Leu203Pro) n.479T>C c.764T>C (p.Leu255Pro) n.889T>C | |
| 19 | g.45364093A>T | CA406373750 | ERCC2 | c.842T>A (p.Leu281Gln) n.871T>A c.*100T>A (n.*100T>A) c.719T>A (p.Leu240Gln) c.770T>A (p.Leu257Gln) n.939T>A c.608T>A (p.Leu203Gln) n.479T>A c.764T>A (p.Leu255Gln) n.889T>A | ClinVar |
| 19 | g.45364093_45364094delinsAG | CA2338395747 | ERCC2 | c.841_842delinsCT (p.Leu281=) n.870_871delinsCT c.*99_*100delinsCT (n.*99_*100delinsCT) c.718_719delinsCT (p.Leu240=) c.769_770delinsCT (p.Leu257=) n.938_939delinsCT c.607_608delinsCT (p.Leu203=) n.478_479delinsCT c.763_764delinsCT (p.Leu255=) n.888_889delinsCT | |
| 19 | g.45364094G>A | CA507953638 | ERCC2 | c.841C>T (p.Leu281=) n.870C>T c.*99C>T (n.*99C>T) c.718C>T (p.Leu240=) c.769C>T (p.Leu257=) n.938C>T c.607C>T (p.Leu203=) n.478C>T c.763C>T (p.Leu255=) n.888C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364094G>C | CA406373752 | ERCC2 | c.841C>G (p.Leu281Val) n.870C>G c.*99C>G (n.*99C>G) c.718C>G (p.Leu240Val) c.769C>G (p.Leu257Val) n.938C>G c.607C>G (p.Leu203Val) n.478C>G c.763C>G (p.Leu255Val) n.888C>G | |
| 19 | g.45364094G= | CA2338395748 | ERCC2 | c.841C= (p.Leu281=) n.870C= c.*99C= (n.*99C=) c.718C= (p.Leu240=) c.769C= (p.Leu257=) n.938C= c.607C= (p.Leu203=) n.478C= c.763C= (p.Leu255=) n.888C= | |
| 19 | g.45364094G>T | CA406373755 | ERCC2 | c.841C>A (p.Leu281Met) n.870C>A c.*99C>A (n.*99C>A) c.718C>A (p.Leu240Met) c.769C>A (p.Leu257Met) n.938C>A c.607C>A (p.Leu203Met) n.478C>A c.763C>A (p.Leu255Met) n.888C>A | gnomAD v4 |
| 19 | g.45364095del | CA882710343 | ERCC2 | c.841del (p.Leu281CysfsTer?) n.870del c.*99del (n.*99del) c.718del (p.Leu240CysfsTer?) c.769del (p.Leu257CysfsTer?) n.938del c.607del (p.Leu203CysfsTer?) n.478del c.763del (p.Leu255CysfsTer?) n.888del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364094_45364095insAGCA | CA2585788657 | ERCC2 | c.840_841insTGCT (p.Leu281CysfsTer?) n.869_870insTGCT c.*98_*99insTGCT (n.*98_*99insTGCT) c.717_718insTGCT (p.Leu240CysfsTer?) c.768_769insTGCT (p.Leu257CysfsTer?) n.937_938insTGCT c.606_607insTGCT (p.Leu203CysfsTer?) n.477_478insTGCT c.762_763insTGCT (p.Leu255CysfsTer?) n.887_888insTGCT | gnomAD v4 |
| 19 | g.45364095G>A | CA507953640 | ERCC2 | c.840C>T (p.Arg280=) n.869C>T c.*98C>T (n.*98C>T) c.717C>T (p.Arg239=) c.768C>T (p.Arg256=) n.937C>T c.606C>T (p.Arg202=) n.477C>T c.762C>T (p.Arg254=) n.887C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364095G>C | CA507953642 | ERCC2 | c.840C>G (p.Arg280=) n.869C>G c.*98C>G (n.*98C>G) c.717C>G (p.Arg239=) c.768C>G (p.Arg256=) n.937C>G c.606C>G (p.Arg202=) n.477C>G c.762C>G (p.Arg254=) n.887C>G | |
| 19 | g.45364095G= | CA2338395749 | ERCC2 | c.840C= (p.Arg280=) n.869C= c.*98C= (n.*98C=) c.717C= (p.Arg239=) c.768C= (p.Arg256=) n.937C= c.606C= (p.Arg202=) n.477C= c.762C= (p.Arg254=) n.887C= | |
| 19 | g.45364095G>T | CA507953644 | ERCC2 | c.840C>A (p.Arg280=) n.869C>A c.*98C>A (n.*98C>A) c.717C>A (p.Arg239=) c.768C>A (p.Arg256=) n.937C>A c.606C>A (p.Arg202=) n.477C>A c.762C>A (p.Arg254=) n.887C>A | |
| 19 | g.45364096C>A | CA406373761 | ERCC2 | c.839G>T (p.Arg280Leu) n.868G>T c.*97G>T (n.*97G>T) c.716G>T (p.Arg239Leu) c.767G>T (p.Arg256Leu) n.936G>T c.605G>T (p.Arg202Leu) n.476G>T c.761G>T (p.Arg254Leu) n.886G>T | gnomAD v4 |
| 19 | g.45364096C= | CA2338395750 | ERCC2 | c.839G= (p.Arg280=) n.868G= c.*97G= (n.*97G=) c.716G= (p.Arg239=) c.767G= (p.Arg256=) n.936G= c.605G= (p.Arg202=) n.476G= c.761G= (p.Arg254=) n.886G= | |
| 19 | g.45364096C>G | CA406373757 | ERCC2 | c.839G>C (p.Arg280Pro) n.868G>C c.*97G>C (n.*97G>C) c.716G>C (p.Arg239Pro) c.767G>C (p.Arg256Pro) n.936G>C c.605G>C (p.Arg202Pro) n.476G>C c.761G>C (p.Arg254Pro) n.886G>C | ClinVar |
| 19 | g.45364096C>T | CA9513595 | ERCC2 | c.839G>A (p.Arg280His) n.868G>A c.*97G>A (n.*97G>A) c.716G>A (p.Arg239His) c.767G>A (p.Arg256His) n.936G>A c.605G>A (p.Arg202His) n.476G>A c.761G>A (p.Arg254His) n.886G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364097G>A | CA9513596 | ERCC2 | c.838C>T (p.Arg280Cys) n.867C>T c.*96C>T (n.*96C>T) c.715C>T (p.Arg239Cys) c.766C>T (p.Arg256Cys) n.935C>T c.604C>T (p.Arg202Cys) n.475C>T c.760C>T (p.Arg254Cys) n.885C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364097G>C | CA406373764 | ERCC2 | c.838C>G (p.Arg280Gly) n.867C>G c.*96C>G (n.*96C>G) c.715C>G (p.Arg239Gly) c.766C>G (p.Arg256Gly) n.935C>G c.604C>G (p.Arg202Gly) n.475C>G c.760C>G (p.Arg254Gly) n.885C>G | |
| 19 | g.45364097G= | CA2338395751 | ERCC2 | c.838C= (p.Arg280=) n.867C= c.*96C= (n.*96C=) c.715C= (p.Arg239=) c.766C= (p.Arg256=) n.935C= c.604C= (p.Arg202=) n.475C= c.760C= (p.Arg254=) n.885C= | |
| 19 | g.45364097G>T | CA406373766 | ERCC2 | c.838C>A (p.Arg280Ser) n.867C>A c.*96C>A (n.*96C>A) c.715C>A (p.Arg239Ser) c.766C>A (p.Arg256Ser) n.935C>A c.604C>A (p.Arg202Ser) n.475C>A c.760C>A (p.Arg254Ser) n.885C>A | |
| 19 | g.45364098C>A | CA406373769 | ERCC2 | c.837G>T (p.Gln279His) n.866G>T c.*95G>T (n.*95G>T) c.714G>T (p.Gln238His) c.765G>T (p.Gln255His) n.934G>T c.603G>T (p.Gln201His) n.474G>T c.759G>T (p.Gln253His) n.884G>T | |
| 19 | g.45364098C= | CA2338395752 | ERCC2 | c.837G= (p.Gln279=) n.866G= c.*95G= (n.*95G=) c.714G= (p.Gln238=) c.765G= (p.Gln255=) n.934G= c.603G= (p.Gln201=) n.474G= c.759G= (p.Gln253=) n.884G= | |
| 19 | g.45364098C>G | CA406373771 | ERCC2 | c.837G>C (p.Gln279His) n.866G>C c.*95G>C (n.*95G>C) c.714G>C (p.Gln238His) c.765G>C (p.Gln255His) n.934G>C c.603G>C (p.Gln201His) n.474G>C c.759G>C (p.Gln253His) n.884G>C | |
| 19 | g.45364098C>T | CA9513597 | ERCC2 | c.837G>A (p.Gln279=) n.866G>A c.*95G>A (n.*95G>A) c.714G>A (p.Gln238=) c.765G>A (p.Gln255=) n.934G>A c.603G>A (p.Gln201=) n.474G>A c.759G>A (p.Gln253=) n.884G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364098dup | CA2585788658 | ERCC2 | c.837dup (p.Arg280AlafsTer?) n.866dup c.*95dup (n.*95dup) c.714dup (p.Arg239AlafsTer?) c.765dup (p.Arg256AlafsTer?) n.934dup c.603dup (p.Arg202AlafsTer?) n.474dup c.759dup (p.Arg254AlafsTer?) n.884dup | gnomAD v4 |
| 19 | g.45364098_45364099delinsCT | CA2338395753 | ERCC2 | c.836_837delinsAG (p.Gln279=) n.865_866delinsAG c.*94_*95delinsAG (n.*94_*95delinsAG) c.713_714delinsAG (p.Gln238=) c.764_765delinsAG (p.Gln255=) n.933_934delinsAG c.602_603delinsAG (p.Gln201=) n.473_474delinsAG c.758_759delinsAG (p.Gln253=) n.883_884delinsAG | |
| 19 | g.45364099del | CA996286546 | ERCC2 | c.836del (p.Gln279ArgfsTer?) n.865del c.*94del (n.*94del) c.713del (p.Gln238ArgfsTer?) c.764del (p.Gln255ArgfsTer?) n.933del c.602del (p.Gln201ArgfsTer?) n.473del c.758del (p.Gln253ArgfsTer?) n.883del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364099T>A | CA406373776 | ERCC2 | c.836A>T (p.Gln279Leu) n.865A>T c.*94A>T (n.*94A>T) c.713A>T (p.Gln238Leu) c.764A>T (p.Gln255Leu) n.933A>T c.602A>T (p.Gln201Leu) n.473A>T c.758A>T (p.Gln253Leu) n.883A>T | |
| 19 | g.45364099T>C | CA406373777 | ERCC2 | c.836A>G (p.Gln279Arg) n.865A>G c.*94A>G (n.*94A>G) c.713A>G (p.Gln238Arg) c.764A>G (p.Gln255Arg) n.933A>G c.602A>G (p.Gln201Arg) n.473A>G c.758A>G (p.Gln253Arg) n.883A>G | |
| 19 | g.45364099T>G | CA9513598 | ERCC2 | c.836A>C (p.Gln279Pro) n.865A>C c.*94A>C (n.*94A>C) c.713A>C (p.Gln238Pro) c.764A>C (p.Gln255Pro) n.933A>C c.602A>C (p.Gln201Pro) n.473A>C c.758A>C (p.Gln253Pro) n.883A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364099T= | CA2338395754 | ERCC2 | c.836A= (p.Gln279=) n.865A= c.*94A= (n.*94A=) c.713A= (p.Gln238=) c.764A= (p.Gln255=) n.933A= c.602A= (p.Gln201=) n.473A= c.758A= (p.Gln253=) n.883A= | |
| 19 | g.45364100G>A | CA406373781 | ERCC2 | c.835C>T (p.Gln279Ter) n.864C>T c.*93C>T (n.*93C>T) c.712C>T (p.Gln238Ter) c.763C>T (p.Gln255Ter) n.932C>T c.601C>T (p.Gln201Ter) n.472C>T c.757C>T (p.Gln253Ter) n.882C>T | |
| 19 | g.45364100G>C | CA406373784 | ERCC2 | c.835C>G (p.Gln279Glu) n.864C>G c.*93C>G (n.*93C>G) c.712C>G (p.Gln238Glu) c.763C>G (p.Gln255Glu) n.932C>G c.601C>G (p.Gln201Glu) n.472C>G c.757C>G (p.Gln253Glu) n.882C>G | |
| 19 | g.45364100G>T | CA406373786 | ERCC2 | c.835C>A (p.Gln279Lys) n.864C>A c.*93C>A (n.*93C>A) c.712C>A (p.Gln238Lys) c.763C>A (p.Gln255Lys) n.932C>A c.601C>A (p.Gln201Lys) n.472C>A c.757C>A (p.Gln253Lys) n.882C>A | ClinVar gnomAD v4 |
| 19 | g.45364101C>A | CA406373788 | ERCC2 | c.834G>T (p.Glu278Asp) n.863G>T c.*92G>T (n.*92G>T) c.711G>T (p.Glu237Asp) c.762G>T (p.Glu254Asp) n.931G>T c.600G>T (p.Glu200Asp) n.471G>T c.756G>T (p.Glu252Asp) n.881G>T | |
| 19 | g.45364101C= | CA2338395755 | ERCC2 | c.834G= (p.Glu278=) n.863G= c.*92G= (n.*92G=) c.711G= (p.Glu237=) c.762G= (p.Glu254=) n.931G= c.600G= (p.Glu200=) n.471G= c.756G= (p.Glu252=) n.881G= | |
| 19 | g.45364101C>G | CA406373790 | ERCC2 | c.834G>C (p.Glu278Asp) n.863G>C c.*92G>C (n.*92G>C) c.711G>C (p.Glu237Asp) c.762G>C (p.Glu254Asp) n.931G>C c.600G>C (p.Glu200Asp) n.471G>C c.756G>C (p.Glu252Asp) n.881G>C | |
| 19 | g.45364101C>T | CA507953648 | ERCC2 | c.834G>A (p.Glu278=) n.863G>A c.*92G>A (n.*92G>A) c.711G>A (p.Glu237=) c.762G>A (p.Glu254=) n.931G>A c.600G>A (p.Glu200=) n.471G>A c.756G>A (p.Glu252=) n.881G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364102T>A | CA406373793 | ERCC2 | c.833A>T (p.Glu278Val) n.862A>T c.*91A>T (n.*91A>T) c.710A>T (p.Glu237Val) c.761A>T (p.Glu254Val) n.930A>T c.599A>T (p.Glu200Val) n.470A>T c.755A>T (p.Glu252Val) n.880A>T | |
| 19 | g.45364102T>C | CA406373797 | ERCC2 | c.833A>G (p.Glu278Gly) n.862A>G c.*91A>G (n.*91A>G) c.710A>G (p.Glu237Gly) c.761A>G (p.Glu254Gly) n.930A>G c.599A>G (p.Glu200Gly) n.470A>G c.755A>G (p.Glu252Gly) n.880A>G | |
| 19 | g.45364102T>G | CA406373795 | ERCC2 | c.833A>C (p.Glu278Ala) n.862A>C c.*91A>C (n.*91A>C) c.710A>C (p.Glu237Ala) c.761A>C (p.Glu254Ala) n.930A>C c.599A>C (p.Glu200Ala) n.470A>C c.755A>C (p.Glu252Ala) n.880A>C | |
| 19 | g.45364103C>A | CA406373800 | ERCC2 | c.832G>T (p.Glu278Ter) n.861G>T c.*90G>T (n.*90G>T) c.709G>T (p.Glu237Ter) c.760G>T (p.Glu254Ter) n.929G>T c.598G>T (p.Glu200Ter) n.469G>T c.754G>T (p.Glu252Ter) n.879G>T | |
| 19 | g.45364103C= | CA2338395757 | ERCC2 | c.832G= (p.Glu278=) n.861G= c.*90G= (n.*90G=) c.709G= (p.Glu237=) c.760G= (p.Glu254=) n.929G= c.598G= (p.Glu200=) n.469G= c.754G= (p.Glu252=) n.879G= | |
| 19 | g.45364103C>G | CA406373801 | ERCC2 | c.832G>C (p.Glu278Gln) n.861G>C c.*90G>C (n.*90G>C) c.709G>C (p.Glu237Gln) c.760G>C (p.Glu254Gln) n.929G>C c.598G>C (p.Glu200Gln) n.469G>C c.754G>C (p.Glu252Gln) n.879G>C | |
| 19 | g.45364103C>T | CA406373803 | ERCC2 | c.832G>A (p.Glu278Lys) n.861G>A c.*90G>A (n.*90G>A) c.709G>A (p.Glu237Lys) c.760G>A (p.Glu254Lys) n.929G>A c.598G>A (p.Glu200Lys) n.469G>A c.754G>A (p.Glu252Lys) n.879G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364103_45364107delinsCGTCT | CA2338395756 | ERCC2 | c.828_832delinsAGACG (p.Thr276=) n.857_861delinsAGACG c.*86_*90delinsAGACG (n.*86_*90delinsAGACG) c.705_709delinsAGACG (p.Thr235=) c.756_760delinsAGACG (p.Thr252=) n.925_929delinsAGACG c.594_598delinsAGACG (p.Thr198=) n.465_469delinsAGACG c.750_754delinsAGACG (p.Thr250=) n.875_879delinsAGACG | |
| 19 | g.45364104G>A | CA9513599 | ERCC2 | c.831C>T (p.Asp277=) n.860C>T c.*89C>T (n.*89C>T) c.708C>T (p.Asp236=) c.759C>T (p.Asp253=) n.928C>T c.597C>T (p.Asp199=) n.468C>T c.753C>T (p.Asp251=) n.878C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364104G>C | CA406373807 | ERCC2 | c.831C>G (p.Asp277Glu) n.860C>G c.*89C>G (n.*89C>G) c.708C>G (p.Asp236Glu) c.759C>G (p.Asp253Glu) n.928C>G c.597C>G (p.Asp199Glu) n.468C>G c.753C>G (p.Asp251Glu) n.878C>G | |
| 19 | g.45364104G= | CA2338395758 | ERCC2 | c.831C= (p.Asp277=) n.860C= c.*89C= (n.*89C=) c.708C= (p.Asp236=) c.759C= (p.Asp253=) n.928C= c.597C= (p.Asp199=) n.468C= c.753C= (p.Asp251=) n.878C= | |
| 19 | g.45364104G>T | CA406373809 | ERCC2 | c.831C>A (p.Asp277Glu) n.860C>A c.*89C>A (n.*89C>A) c.708C>A (p.Asp236Glu) c.759C>A (p.Asp253Glu) n.928C>A c.597C>A (p.Asp199Glu) n.468C>A c.753C>A (p.Asp251Glu) n.878C>A | COSMIC COSMIC |
| 19 | g.45364108_45364111del | CA633479976 | ERCC2 | c.828_831del (p.Asp277SerfsTer?) n.857_860del c.*86_*89del (n.*86_*89del) c.705_708del (p.Asp236SerfsTer?) c.756_759del (p.Asp253SerfsTer?) n.925_928del c.594_597del (p.Asp199SerfsTer?) n.465_468del c.750_753del (p.Asp251SerfsTer?) n.875_878del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364105T>A | CA406373812 | ERCC2 | c.830A>T (p.Asp277Val) n.859A>T c.*88A>T (n.*88A>T) c.707A>T (p.Asp236Val) c.758A>T (p.Asp253Val) n.927A>T c.596A>T (p.Asp199Val) n.467A>T c.752A>T (p.Asp251Val) n.877A>T | |
| 19 | g.45364105T>C | CA406373813 | ERCC2 | c.830A>G (p.Asp277Gly) n.859A>G c.*88A>G (n.*88A>G) c.707A>G (p.Asp236Gly) c.758A>G (p.Asp253Gly) n.927A>G c.596A>G (p.Asp199Gly) n.467A>G c.752A>G (p.Asp251Gly) n.877A>G | |
| 19 | g.45364105T>G | CA406373815 | ERCC2 | c.830A>C (p.Asp277Ala) n.859A>C c.*88A>C (n.*88A>C) c.707A>C (p.Asp236Ala) c.758A>C (p.Asp253Ala) n.927A>C c.596A>C (p.Asp199Ala) n.467A>C c.752A>C (p.Asp251Ala) n.877A>C | |
| 19 | g.45364106C>A | CA406373818 | ERCC2 | c.829G>T (p.Asp277Tyr) n.858G>T c.*87G>T (n.*87G>T) c.706G>T (p.Asp236Tyr) c.757G>T (p.Asp253Tyr) n.926G>T c.595G>T (p.Asp199Tyr) n.466G>T c.751G>T (p.Asp251Tyr) n.876G>T | gnomAD v4 |
| 19 | g.45364106C>G | CA406373820 | ERCC2 | c.829G>C (p.Asp277His) n.858G>C c.*87G>C (n.*87G>C) c.706G>C (p.Asp236His) c.757G>C (p.Asp253His) n.926G>C c.595G>C (p.Asp199His) n.466G>C c.751G>C (p.Asp251His) n.876G>C | |
| 19 | g.45364106C>T | CA406373823 | ERCC2 | c.829G>A (p.Asp277Asn) n.858G>A c.*87G>A (n.*87G>A) c.706G>A (p.Asp236Asn) c.757G>A (p.Asp253Asn) n.926G>A c.595G>A (p.Asp199Asn) n.466G>A c.751G>A (p.Asp251Asn) n.876G>A | gnomAD v4 |
| 19 | g.45364109_45364122dup | CA2585788659 | ERCC2 | c.816_829dup n.845_858dup c.*74_*87dup c.693_706dup c.744_757dup n.913_926dup c.582_595dup n.453_466dup c.738_751dup n.863_876dup | gnomAD v4 |
| 19 | g.45364107T>A | CA507953655 | ERCC2 | c.828A>T (p.Thr276=) n.857A>T c.*86A>T (n.*86A>T) c.705A>T (p.Thr235=) c.756A>T (p.Thr252=) n.925A>T c.594A>T (p.Thr198=) n.465A>T c.750A>T (p.Thr250=) n.875A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364107T>C | CA507953656 | ERCC2 | c.828A>G (p.Thr276=) n.857A>G c.*86A>G (n.*86A>G) c.705A>G (p.Thr235=) c.756A>G (p.Thr252=) n.925A>G c.594A>G (p.Thr198=) n.465A>G c.750A>G (p.Thr250=) n.875A>G | dbSNP |
| 19 | g.45364107T>G | CA9513600 | ERCC2 | c.828A>C (p.Thr276=) n.857A>C c.*86A>C (n.*86A>C) c.705A>C (p.Thr235=) c.756A>C (p.Thr252=) n.925A>C c.594A>C (p.Thr198=) n.465A>C c.750A>C (p.Thr250=) n.875A>C | dbSNP ExAC gnomAD v2 |
| 19 | g.45364107T= | CA2338395759 | ERCC2 | c.828A= (p.Thr276=) n.857A= c.*86A= (n.*86A=) c.705A= (p.Thr235=) c.756A= (p.Thr252=) n.925A= c.594A= (p.Thr198=) n.465A= c.750A= (p.Thr250=) n.875A= | |
| 19 | g.45364108_45364109del | CA2739276867 | ERCC2 | c.827_828del (p.Thr276ArgfsTer?) n.856_857del c.*85_*86del (n.*85_*86del) c.704_705del (p.Thr235ArgfsTer?) c.755_756del (p.Thr252ArgfsTer?) n.924_925del c.593_594del (p.Thr198ArgfsTer?) n.464_465del c.749_750del (p.Thr250ArgfsTer?) n.874_875del | ClinVar |
| 19 | g.45364108G>A | CA406373827 | ERCC2 | c.827C>T (p.Thr276Ile) n.856C>T c.*85C>T (n.*85C>T) c.704C>T (p.Thr235Ile) c.755C>T (p.Thr252Ile) n.924C>T c.593C>T (p.Thr198Ile) n.464C>T c.749C>T (p.Thr250Ile) n.874C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364108G>C | CA406373831 | ERCC2 | c.827C>G (p.Thr276Arg) n.856C>G c.*85C>G (n.*85C>G) c.704C>G (p.Thr235Arg) c.755C>G (p.Thr252Arg) n.924C>G c.593C>G (p.Thr198Arg) n.464C>G c.749C>G (p.Thr250Arg) n.874C>G | dbSNP gnomAD v4 |
| 19 | g.45364108G= | CA2338395760 | ERCC2 | c.827C= (p.Thr276=) n.856C= c.*85C= (n.*85C=) c.704C= (p.Thr235=) c.755C= (p.Thr252=) n.924C= c.593C= (p.Thr198=) n.464C= c.749C= (p.Thr250=) n.874C= | |
| 19 | g.45364108G>T | CA406373829 | ERCC2 | c.827C>A (p.Thr276Lys) n.856C>A c.*85C>A (n.*85C>A) c.704C>A (p.Thr235Lys) c.755C>A (p.Thr252Lys) n.924C>A c.593C>A (p.Thr198Lys) n.464C>A c.749C>A (p.Thr250Lys) n.874C>A | |
| 19 | g.45364109T>A | CA406373834 | ERCC2 | c.826A>T (p.Thr276Ser) n.855A>T c.*84A>T (n.*84A>T) c.703A>T (p.Thr235Ser) c.754A>T (p.Thr252Ser) n.923A>T c.592A>T (p.Thr198Ser) n.463A>T c.748A>T (p.Thr250Ser) n.873A>T | |
| 19 | g.45364109T>C | CA406373836 | ERCC2 | c.826A>G (p.Thr276Ala) n.855A>G c.*84A>G (n.*84A>G) c.703A>G (p.Thr235Ala) c.754A>G (p.Thr252Ala) n.923A>G c.592A>G (p.Thr198Ala) n.463A>G c.748A>G (p.Thr250Ala) n.873A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364109T>G | CA406373838 | ERCC2 | c.826A>C (p.Thr276Pro) n.855A>C c.*84A>C (n.*84A>C) c.703A>C (p.Thr235Pro) c.754A>C (p.Thr252Pro) n.923A>C c.592A>C (p.Thr198Pro) n.463A>C c.748A>C (p.Thr250Pro) n.873A>C | |
| 19 | g.45364109T= | CA2338395761 | ERCC2 | c.826A= (p.Thr276=) n.855A= c.*84A= (n.*84A=) c.703A= (p.Thr235=) c.754A= (p.Thr252=) n.923A= c.592A= (p.Thr198=) n.463A= c.748A= (p.Thr250=) n.873A= | |
| 19 | g.45364110C>A | CA406373840 | ERCC2 | c.825G>T (p.Glu275Asp) n.854G>T c.*83G>T (n.*83G>T) c.702G>T (p.Glu234Asp) c.753G>T (p.Glu251Asp) n.922G>T c.591G>T (p.Glu197Asp) n.462G>T c.747G>T (p.Glu249Asp) n.872G>T | |
| 19 | g.45364110C>G | CA406373842 | ERCC2 | c.825G>C (p.Glu275Asp) n.854G>C c.*83G>C (n.*83G>C) c.702G>C (p.Glu234Asp) c.753G>C (p.Glu251Asp) n.922G>C c.591G>C (p.Glu197Asp) n.462G>C c.747G>C (p.Glu249Asp) n.872G>C | ClinVar |
| 19 | g.45364110C>T | CA507953664 | ERCC2 | c.825G>A (p.Glu275=) n.854G>A c.*83G>A (n.*83G>A) c.702G>A (p.Glu234=) c.753G>A (p.Glu251=) n.922G>A c.591G>A (p.Glu197=) n.462G>A c.747G>A (p.Glu249=) n.872G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364111T>A | CA406373844 | ERCC2 | c.824A>T (p.Glu275Val) n.853A>T c.*82A>T (n.*82A>T) c.701A>T (p.Glu234Val) c.752A>T (p.Glu251Val) n.921A>T c.590A>T (p.Glu197Val) n.461A>T c.746A>T (p.Glu249Val) n.871A>T | |
| 19 | g.45364111T>C | CA406373845 | ERCC2 | c.824A>G (p.Glu275Gly) n.853A>G c.*82A>G (n.*82A>G) c.701A>G (p.Glu234Gly) c.752A>G (p.Glu251Gly) n.921A>G c.590A>G (p.Glu197Gly) n.461A>G c.746A>G (p.Glu249Gly) n.871A>G | ClinVar |
| 19 | g.45364111T>G | CA406373847 | ERCC2 | c.824A>C (p.Glu275Ala) n.853A>C c.*82A>C (n.*82A>C) c.701A>C (p.Glu234Ala) c.752A>C (p.Glu251Ala) n.921A>C c.590A>C (p.Glu197Ala) n.461A>C c.746A>C (p.Glu249Ala) n.871A>C | |
| 19 | g.45364112C>A | CA406373850 | ERCC2 | c.823G>T (p.Glu275Ter) n.852G>T c.*81G>T (n.*81G>T) c.700G>T (p.Glu234Ter) c.751G>T (p.Glu251Ter) n.920G>T c.589G>T (p.Glu197Ter) n.460G>T c.745G>T (p.Glu249Ter) n.870G>T | |
| 19 | g.45364112C>G | CA406373852 | ERCC2 | c.823G>C (p.Glu275Gln) n.852G>C c.*81G>C (n.*81G>C) c.700G>C (p.Glu234Gln) c.751G>C (p.Glu251Gln) n.920G>C c.589G>C (p.Glu197Gln) n.460G>C c.745G>C (p.Glu249Gln) n.870G>C | |
| 19 | g.45364112C>T | CA406373854 | ERCC2 | c.823G>A (p.Glu275Lys) n.852G>A c.*81G>A (n.*81G>A) c.700G>A (p.Glu234Lys) c.751G>A (p.Glu251Lys) n.920G>A c.589G>A (p.Glu197Lys) n.460G>A c.745G>A (p.Glu249Lys) n.870G>A | |
| 19 | g.45364113T>A | CA406373857 | ERCC2 | c.822A>T (p.Lys274Asn) n.851A>T c.*80A>T (n.*80A>T) c.699A>T (p.Lys233Asn) c.750A>T (p.Lys250Asn) n.919A>T c.588A>T (p.Lys196Asn) n.459A>T c.744A>T (p.Lys248Asn) n.869A>T | |
| 19 | g.45364113T>C | CA507953665 | ERCC2 | c.822A>G (p.Lys274=) n.851A>G c.*80A>G (n.*80A>G) c.699A>G (p.Lys233=) c.750A>G (p.Lys250=) n.919A>G c.588A>G (p.Lys196=) n.459A>G c.744A>G (p.Lys248=) n.869A>G | |
| 19 | g.45364113T>G | CA406373859 | ERCC2 | c.822A>C (p.Lys274Asn) n.851A>C c.*80A>C (n.*80A>C) c.699A>C (p.Lys233Asn) c.750A>C (p.Lys250Asn) n.919A>C c.588A>C (p.Lys196Asn) n.459A>C c.744A>C (p.Lys248Asn) n.869A>C | |
| 19 | g.45364114_45364115del | CA2585788660 | ERCC2 | c.821_822del (p.Lys274ArgfsTer?) n.850_851del c.*79_*80del (n.*79_*80del) c.698_699del (p.Lys233ArgfsTer?) c.749_750del (p.Lys250ArgfsTer?) n.918_919del c.587_588del (p.Lys196ArgfsTer?) n.458_459del c.743_744del (p.Lys248ArgfsTer?) n.868_869del | gnomAD v4 |
| 19 | g.45364114T>A | CA406373861 | ERCC2 | c.821A>T (p.Lys274Ile) n.850A>T c.*79A>T (n.*79A>T) c.698A>T (p.Lys233Ile) c.749A>T (p.Lys250Ile) n.918A>T c.587A>T (p.Lys196Ile) n.458A>T c.743A>T (p.Lys248Ile) n.868A>T | |
| 19 | g.45364114T>C | CA9513601 | ERCC2 | c.821A>G (p.Lys274Arg) n.850A>G c.*79A>G (n.*79A>G) c.698A>G (p.Lys233Arg) c.749A>G (p.Lys250Arg) n.918A>G c.587A>G (p.Lys196Arg) n.458A>G c.743A>G (p.Lys248Arg) n.868A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364114T>G | CA406373864 | ERCC2 | c.821A>C (p.Lys274Thr) n.850A>C c.*79A>C (n.*79A>C) c.698A>C (p.Lys233Thr) c.749A>C (p.Lys250Thr) n.918A>C c.587A>C (p.Lys196Thr) n.458A>C c.743A>C (p.Lys248Thr) n.868A>C | |
| 19 | g.45364114T= | CA2338395762 | ERCC2 | c.821A= (p.Lys274=) n.850A= c.*79A= (n.*79A=) c.698A= (p.Lys233=) c.749A= (p.Lys250=) n.918A= c.587A= (p.Lys196=) n.458A= c.743A= (p.Lys248=) n.868A= | |
| 19 | g.45364115T>A | CA406373867 | ERCC2 | c.820A>T (p.Lys274Ter) n.849A>T c.*78A>T (n.*78A>T) c.697A>T (p.Lys233Ter) c.748A>T (p.Lys250Ter) n.917A>T c.586A>T (p.Lys196Ter) n.457A>T c.742A>T (p.Lys248Ter) n.867A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364115T>C | CA9513602 | ERCC2 | c.820A>G (p.Lys274Glu) n.849A>G c.*78A>G (n.*78A>G) c.697A>G (p.Lys233Glu) c.748A>G (p.Lys250Glu) n.917A>G c.586A>G (p.Lys196Glu) n.457A>G c.742A>G (p.Lys248Glu) n.867A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364115T>G | CA406373870 | ERCC2 | c.820A>C (p.Lys274Gln) n.849A>C c.*78A>C (n.*78A>C) c.697A>C (p.Lys233Gln) c.748A>C (p.Lys250Gln) n.917A>C c.586A>C (p.Lys196Gln) n.457A>C c.742A>C (p.Lys248Gln) n.867A>C | |
| 19 | g.45364115T= | CA2338395763 | ERCC2 | c.820A= (p.Lys274=) n.849A= c.*78A= (n.*78A=) c.697A= (p.Lys233=) c.748A= (p.Lys250=) n.917A= c.586A= (p.Lys196=) n.457A= c.742A= (p.Lys248=) n.867A= | |
| 19 | g.45364116G>A | CA507953666 | ERCC2 | c.819C>T (p.Ile273=) n.848C>T c.*77C>T (n.*77C>T) c.696C>T (p.Ile232=) c.747C>T (p.Ile249=) n.916C>T c.585C>T (p.Ile195=) n.456C>T c.741C>T (p.Ile247=) n.866C>T | ClinVar gnomAD v4 |
| 19 | g.45364116G>C | CA406373872 | ERCC2 | c.819C>G (p.Ile273Met) n.848C>G c.*77C>G (n.*77C>G) c.696C>G (p.Ile232Met) c.747C>G (p.Ile249Met) n.916C>G c.585C>G (p.Ile195Met) n.456C>G c.741C>G (p.Ile247Met) n.866C>G | ClinVar |
| 19 | g.45364116G>T | CA507953668 | ERCC2 | c.819C>A (p.Ile273=) n.848C>A c.*77C>A (n.*77C>A) c.696C>A (p.Ile232=) c.747C>A (p.Ile249=) n.916C>A c.585C>A (p.Ile195=) n.456C>A c.741C>A (p.Ile247=) n.866C>A | ClinVar |
| 19 | g.45364117A>C | CA406373874 | ERCC2 | c.818T>G (p.Ile273Ser) n.847T>G c.*76T>G (n.*76T>G) c.695T>G (p.Ile232Ser) c.746T>G (p.Ile249Ser) n.915T>G c.584T>G (p.Ile195Ser) n.455T>G c.740T>G (p.Ile247Ser) n.865T>G | |
| 19 | g.45364117A>G | CA406373876 | ERCC2 | c.818T>C (p.Ile273Thr) n.847T>C c.*76T>C (n.*76T>C) c.695T>C (p.Ile232Thr) c.746T>C (p.Ile249Thr) n.915T>C c.584T>C (p.Ile195Thr) n.455T>C c.740T>C (p.Ile247Thr) n.865T>C | |
| 19 | g.45364117A>T | CA406373877 | ERCC2 | c.818T>A (p.Ile273Asn) n.847T>A c.*76T>A (n.*76T>A) c.695T>A (p.Ile232Asn) c.746T>A (p.Ile249Asn) n.915T>A c.584T>A (p.Ile195Asn) n.455T>A c.740T>A (p.Ile247Asn) n.865T>A | |
| 19 | g.45364118T>A | CA406373880 | ERCC2 | c.817A>T (p.Ile273Phe) n.846A>T c.*75A>T (n.*75A>T) c.694A>T (p.Ile232Phe) c.745A>T (p.Ile249Phe) n.914A>T c.583A>T (p.Ile195Phe) n.454A>T c.739A>T (p.Ile247Phe) n.864A>T | ClinVar |
| 19 | g.45364118T>C | CA406373882 | ERCC2 | c.817A>G (p.Ile273Val) n.846A>G c.*75A>G (n.*75A>G) c.694A>G (p.Ile232Val) c.745A>G (p.Ile249Val) n.914A>G c.583A>G (p.Ile195Val) n.454A>G c.739A>G (p.Ile247Val) n.864A>G | |
| 19 | g.45364118T>G | CA406373884 | ERCC2 | c.817A>C (p.Ile273Leu) n.846A>C c.*75A>C (n.*75A>C) c.694A>C (p.Ile232Leu) c.745A>C (p.Ile249Leu) n.914A>C c.583A>C (p.Ile195Leu) n.454A>C c.739A>C (p.Ile247Leu) n.864A>C | ClinVar gnomAD v4 |
| 19 | g.45364119C>A | CA406373888 | ERCC2 | c.816G>T (p.Arg272Ser) n.845G>T c.*74G>T (n.*74G>T) c.693G>T (p.Arg231Ser) c.744G>T (p.Arg248Ser) n.913G>T c.582G>T (p.Arg194Ser) n.453G>T c.738G>T (p.Arg246Ser) n.863G>T | |
| 19 | g.45364119C>G | CA406373886 | ERCC2 | c.816G>C (p.Arg272Ser) n.845G>C c.*74G>C (n.*74G>C) c.693G>C (p.Arg231Ser) c.744G>C (p.Arg248Ser) n.913G>C c.582G>C (p.Arg194Ser) n.453G>C c.738G>C (p.Arg246Ser) n.863G>C | COSMIC COSMIC |
| 19 | g.45364119C>T | CA507953673 | ERCC2 | c.816G>A (p.Arg272=) n.845G>A c.*74G>A (n.*74G>A) c.693G>A (p.Arg231=) c.744G>A (p.Arg248=) n.913G>A c.582G>A (p.Arg194=) n.453G>A c.738G>A (p.Arg246=) n.863G>A | gnomAD v4 |
| 19 | g.45364120C>A | CA406373891 | ERCC2 | c.816-1G>T (n.816-1G>T) n.845-1G>T c.*74-1G>T (n.*74-1G>T) c.693-1G>T (n.693-1G>T) c.744-1G>T (n.744-1G>T) n.913-1G>T c.582-1G>T (n.582-1G>T) n.453-1G>T c.738-1G>T (n.738-1G>T) n.863-1G>T | gnomAD v4 |
| 19 | g.45364120C>G | CA406373892 | ERCC2 | c.816-1G>C (n.816-1G>C) n.845-1G>C c.*74-1G>C (n.*74-1G>C) c.693-1G>C (n.693-1G>C) c.744-1G>C (n.744-1G>C) n.913-1G>C c.582-1G>C (n.582-1G>C) n.453-1G>C c.738-1G>C (n.738-1G>C) n.863-1G>C | |
| 19 | g.45364120C>T | CA406373894 | ERCC2 | c.816-1G>A (n.816-1G>A) n.845-1G>A c.*74-1G>A (n.*74-1G>A) c.693-1G>A (n.693-1G>A) c.744-1G>A (n.744-1G>A) n.913-1G>A c.582-1G>A (n.582-1G>A) n.453-1G>A c.738-1G>A (n.738-1G>A) n.863-1G>A | gnomAD v4 |
| 19 | g.45364121T>A | CA406373896 | ERCC2 | c.816-2A>T (n.816-2A>T) n.845-2A>T c.*74-2A>T (n.*74-2A>T) c.693-2A>T (n.693-2A>T) c.744-2A>T (n.744-2A>T) n.913-2A>T c.582-2A>T (n.582-2A>T) n.453-2A>T c.738-2A>T (n.738-2A>T) n.863-2A>T | |
| 19 | g.45364121T>C | CA9513603 | ERCC2 | c.816-2A>G (n.816-2A>G) n.845-2A>G c.*74-2A>G (n.*74-2A>G) c.693-2A>G (n.693-2A>G) c.744-2A>G (n.744-2A>G) n.913-2A>G c.582-2A>G (n.582-2A>G) n.453-2A>G c.738-2A>G (n.738-2A>G) n.863-2A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364121T>G | CA406373899 | ERCC2 | c.816-2A>C (n.816-2A>C) n.845-2A>C c.*74-2A>C (n.*74-2A>C) c.693-2A>C (n.693-2A>C) c.744-2A>C (n.744-2A>C) n.913-2A>C c.582-2A>C (n.582-2A>C) n.453-2A>C c.738-2A>C (n.738-2A>C) n.863-2A>C | |
| 19 | g.45364121T= | CA2338395764 | ERCC2 | c.816-2A= (n.816-2A=) n.845-2A= c.*74-2A= (n.*74-2A=) c.693-2A= (n.693-2A=) c.744-2A= (n.744-2A=) n.913-2A= c.582-2A= (n.582-2A=) n.453-2A= c.738-2A= (n.738-2A=) n.863-2A= | |
| 19 | g.45364122G>A | CA2576816455 | ERCC2 | c.816-3C>T (n.816-3C>T) n.845-3C>T c.*74-3C>T (n.*74-3C>T) c.693-3C>T (n.693-3C>T) c.744-3C>T (n.744-3C>T) n.913-3C>T c.582-3C>T (n.582-3C>T) n.453-3C>T c.738-3C>T (n.738-3C>T) n.863-3C>T | gnomAD v4 |
| 19 | g.45364122G>T | CA2585788661 | ERCC2 | c.816-3C>A (n.816-3C>A) n.845-3C>A c.*74-3C>A (n.*74-3C>A) c.693-3C>A (n.693-3C>A) c.744-3C>A (n.744-3C>A) n.913-3C>A c.582-3C>A (n.582-3C>A) n.453-3C>A c.738-3C>A (n.738-3C>A) n.863-3C>A | gnomAD v4 |
| 19 | g.45364123C>A | CA2585788662 | ERCC2 | c.816-4G>T (n.816-4G>T) n.845-4G>T c.*74-4G>T (n.*74-4G>T) c.693-4G>T (n.693-4G>T) c.744-4G>T (n.744-4G>T) n.913-4G>T c.582-4G>T (n.582-4G>T) n.453-4G>T c.738-4G>T (n.738-4G>T) n.863-4G>T | gnomAD v4 |
| 19 | g.45364123C= | CA2338395765 | ERCC2 | c.816-4G= (n.816-4G=) n.845-4G= c.*74-4G= (n.*74-4G=) c.693-4G= (n.693-4G=) c.744-4G= (n.744-4G=) n.913-4G= c.582-4G= (n.582-4G=) n.453-4G= c.738-4G= (n.738-4G=) n.863-4G= | |
| 19 | g.45364123C>T | CA633479978 | ERCC2 | c.816-4G>A (n.816-4G>A) n.845-4G>A c.*74-4G>A (n.*74-4G>A) c.693-4G>A (n.693-4G>A) c.744-4G>A (n.744-4G>A) n.913-4G>A c.582-4G>A (n.582-4G>A) n.453-4G>A c.738-4G>A (n.738-4G>A) n.863-4G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364124G>A | CA9513604 | ERCC2 | c.816-5C>T (n.816-5C>T) n.845-5C>T c.*74-5C>T (n.*74-5C>T) c.693-5C>T (n.693-5C>T) c.744-5C>T (n.744-5C>T) n.913-5C>T c.582-5C>T (n.582-5C>T) n.453-5C>T c.738-5C>T (n.738-5C>T) n.863-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364124G>C | CA996286577 | ERCC2 | c.816-5C>G (n.816-5C>G) n.845-5C>G c.*74-5C>G (n.*74-5C>G) c.693-5C>G (n.693-5C>G) c.744-5C>G (n.744-5C>G) n.913-5C>G c.582-5C>G (n.582-5C>G) n.453-5C>G c.738-5C>G (n.738-5C>G) n.863-5C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364124G= | CA2338395767 | ERCC2 | c.816-5C= (n.816-5C=) n.845-5C= c.*74-5C= (n.*74-5C=) c.693-5C= (n.693-5C=) c.744-5C= (n.744-5C=) n.913-5C= c.582-5C= (n.582-5C=) n.453-5C= c.738-5C= (n.738-5C=) n.863-5C= | |
| 19 | g.45364124G>T | CA9513605 | ERCC2 | c.816-5C>A (n.816-5C>A) n.845-5C>A c.*74-5C>A (n.*74-5C>A) c.693-5C>A (n.693-5C>A) c.744-5C>A (n.744-5C>A) n.913-5C>A c.582-5C>A (n.582-5C>A) n.453-5C>A c.738-5C>A (n.738-5C>A) n.863-5C>A | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.45364124_45364126delinsGGA | CA2338395766 | ERCC2 | c.816-7_816-5delinsTCC (n.816-7_816-5delinsTCC) n.845-7_845-5delinsTCC c.*74-7_*74-5delinsTCC (n.*74-7_*74-5delinsTCC) c.693-7_693-5delinsTCC (n.693-7_693-5delinsTCC) c.744-7_744-5delinsTCC (n.744-7_744-5delinsTCC) n.913-7_913-5delinsTCC c.582-7_582-5delinsTCC (n.582-7_582-5delinsTCC) n.453-7_453-5delinsTCC c.738-7_738-5delinsTCC (n.738-7_738-5delinsTCC) n.863-7_863-5delinsTCC | |
| 19 | g.45364129_45364130del | CA9513606 | ERCC2 | c.816-7_816-6del (n.816-7_816-6del) n.845-7_845-6del c.*74-7_*74-6del (n.*74-7_*74-6del) c.693-7_693-6del (n.693-7_693-6del) c.744-7_744-6del (n.744-7_744-6del) n.913-7_913-6del c.582-7_582-6del (n.582-7_582-6del) n.453-7_453-6del c.738-7_738-6del (n.738-7_738-6del) n.863-7_863-6del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364126A>G | CA2735987040 | ERCC2 | c.816-7T>C (n.816-7T>C) n.845-7T>C c.*74-7T>C (n.*74-7T>C) c.693-7T>C (n.693-7T>C) c.744-7T>C (n.744-7T>C) n.913-7T>C c.582-7T>C (n.582-7T>C) n.453-7T>C c.738-7T>C (n.738-7T>C) n.863-7T>C | dbSNP |
| 19 | g.45364127G>C | CA633479980 | ERCC2 | c.816-8C>G (n.816-8C>G) n.845-8C>G c.*74-8C>G (n.*74-8C>G) c.693-8C>G (n.693-8C>G) c.744-8C>G (n.744-8C>G) n.913-8C>G c.582-8C>G (n.582-8C>G) n.453-8C>G c.738-8C>G (n.738-8C>G) n.863-8C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364127G= | CA2338395768 | ERCC2 | c.816-8C= (n.816-8C=) n.845-8C= c.*74-8C= (n.*74-8C=) c.693-8C= (n.693-8C=) c.744-8C= (n.744-8C=) n.913-8C= c.582-8C= (n.582-8C=) n.453-8C= c.738-8C= (n.738-8C=) n.863-8C= | |
| 19 | g.45364128A>G | CA2697556625 | ERCC2 | c.816-9T>C (n.816-9T>C) n.845-9T>C c.*74-9T>C (n.*74-9T>C) c.693-9T>C (n.693-9T>C) c.744-9T>C (n.744-9T>C) n.913-9T>C c.582-9T>C (n.582-9T>C) n.453-9T>C c.738-9T>C (n.738-9T>C) n.863-9T>C | ClinVar |
| 19 | g.45364129G>A | CA2585788663 | ERCC2 | c.816-10C>T (n.816-10C>T) n.845-10C>T c.*74-10C>T (n.*74-10C>T) c.693-10C>T (n.693-10C>T) c.744-10C>T (n.744-10C>T) n.913-10C>T c.582-10C>T (n.582-10C>T) n.453-10C>T c.738-10C>T (n.738-10C>T) n.863-10C>T | ClinVar gnomAD v4 |
| 19 | g.45364129G>C | CA633479981 | ERCC2 | c.816-10C>G (n.816-10C>G) n.845-10C>G c.*74-10C>G (n.*74-10C>G) c.693-10C>G (n.693-10C>G) c.744-10C>G (n.744-10C>G) n.913-10C>G c.582-10C>G (n.582-10C>G) n.453-10C>G c.738-10C>G (n.738-10C>G) n.863-10C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364129G= | CA2338395769 | ERCC2 | c.816-10C= (n.816-10C=) n.845-10C= c.*74-10C= (n.*74-10C=) c.693-10C= (n.693-10C=) c.744-10C= (n.744-10C=) n.913-10C= c.582-10C= (n.582-10C=) n.453-10C= c.738-10C= (n.738-10C=) n.863-10C= | |
| 19 | g.45364131T>A | CA2697556626 | ERCC2 | c.816-12A>T (n.816-12A>T) n.845-12A>T c.*74-12A>T (n.*74-12A>T) c.693-12A>T (n.693-12A>T) c.744-12A>T (n.744-12A>T) n.913-12A>T c.582-12A>T (n.582-12A>T) n.453-12A>T c.738-12A>T (n.738-12A>T) n.863-12A>T | ClinVar |
| 19 | g.45364132G>A | CA9513607 | ERCC2 | c.816-13C>T (n.816-13C>T) n.845-13C>T c.*74-13C>T (n.*74-13C>T) c.693-13C>T (n.693-13C>T) c.744-13C>T (n.744-13C>T) n.913-13C>T c.582-13C>T (n.582-13C>T) n.453-13C>T c.738-13C>T (n.738-13C>T) n.863-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364132G= | CA2338395770 | ERCC2 | c.816-13C= (n.816-13C=) n.845-13C= c.*74-13C= (n.*74-13C=) c.693-13C= (n.693-13C=) c.744-13C= (n.744-13C=) n.913-13C= c.582-13C= (n.582-13C=) n.453-13C= c.738-13C= (n.738-13C=) n.863-13C= | |
| 19 | g.45364134G>A | CA2585788665 | ERCC2 | c.816-15C>T (n.816-15C>T) n.845-15C>T c.*74-15C>T (n.*74-15C>T) c.693-15C>T (n.693-15C>T) c.744-15C>T (n.744-15C>T) n.913-15C>T c.582-15C>T (n.582-15C>T) n.453-15C>T c.738-15C>T (n.738-15C>T) n.863-15C>T | gnomAD v4 |
| 19 | g.45364134G>C | CA2576816457 | ERCC2 | c.816-15C>G (n.816-15C>G) n.845-15C>G c.*74-15C>G (n.*74-15C>G) c.693-15C>G (n.693-15C>G) c.744-15C>G (n.744-15C>G) n.913-15C>G c.582-15C>G (n.582-15C>G) n.453-15C>G c.738-15C>G (n.738-15C>G) n.863-15C>G | |
| 19 | g.45364134G>T | CA2585788664 | ERCC2 | c.816-15C>A (n.816-15C>A) n.845-15C>A c.*74-15C>A (n.*74-15C>A) c.693-15C>A (n.693-15C>A) c.744-15C>A (n.744-15C>A) n.913-15C>A c.582-15C>A (n.582-15C>A) n.453-15C>A c.738-15C>A (n.738-15C>A) n.863-15C>A | gnomAD v4 |
| 19 | g.45364135C>T | CA2585788666 | ERCC2 | c.816-16G>A (n.816-16G>A) n.845-16G>A c.*74-16G>A (n.*74-16G>A) c.693-16G>A (n.693-16G>A) c.744-16G>A (n.744-16G>A) n.913-16G>A c.582-16G>A (n.582-16G>A) n.453-16G>A c.738-16G>A (n.738-16G>A) n.863-16G>A | gnomAD v4 |
| 19 | g.45364136T>C | CA2338395773 | ERCC2 | c.816-17A>G (n.816-17A>G) n.845-17A>G c.*74-17A>G (n.*74-17A>G) c.693-17A>G (n.693-17A>G) c.744-17A>G (n.744-17A>G) n.913-17A>G c.582-17A>G (n.582-17A>G) n.453-17A>G c.738-17A>G (n.738-17A>G) n.863-17A>G | ClinVar dbSNP |
| 19 | g.45364136T= | CA2338395772 | ERCC2 | c.816-17A= (n.816-17A=) n.845-17A= c.*74-17A= (n.*74-17A=) c.693-17A= (n.693-17A=) c.744-17A= (n.744-17A=) n.913-17A= c.582-17A= (n.582-17A=) n.453-17A= c.738-17A= (n.738-17A=) n.863-17A= | |
| 19 | g.45364136_45364147delinsTGGGGCTGGGAG | CA2338395771 | ERCC2 | c.816-28_816-17delinsCTCCCAGCCCCA (n.816-28_816-17delinsCTCCCAGCCCCA) n.845-28_845-17delinsCTCCCAGCCCCA c.*74-28_*74-17delinsCTCCCAGCCCCA (n.*74-28_*74-17delinsCTCCCAGCCCCA) c.693-28_693-17delinsCTCCCAGCCCCA (n.693-28_693-17delinsCTCCCAGCCCCA) c.744-28_744-17delinsCTCCCAGCCCCA (n.744-28_744-17delinsCTCCCAGCCCCA) n.913-28_913-17delinsCTCCCAGCCCCA c.582-28_582-17delinsCTCCCAGCCCCA (n.582-28_582-17delinsCTCCCAGCCCCA) n.453-28_453-17delinsCTCCCAGCCCCA c.738-28_738-17delinsCTCCCAGCCCCA (n.738-28_738-17delinsCTCCCAGCCCCA) n.863-28_863-17delinsCTCCCAGCCCCA | |
| 19 | g.45364137G>A | CA882710414 | ERCC2 | c.816-18C>T (n.816-18C>T) n.845-18C>T c.*74-18C>T (n.*74-18C>T) c.693-18C>T (n.693-18C>T) c.744-18C>T (n.744-18C>T) n.913-18C>T c.582-18C>T (n.582-18C>T) n.453-18C>T c.738-18C>T (n.738-18C>T) n.863-18C>T | dbSNP |
| 19 | g.45364137G= | CA2338395775 | ERCC2 | c.816-18C= (n.816-18C=) n.845-18C= c.*74-18C= (n.*74-18C=) c.693-18C= (n.693-18C=) c.744-18C= (n.744-18C=) n.913-18C= c.582-18C= (n.582-18C=) n.453-18C= c.738-18C= (n.738-18C=) n.863-18C= | |
| 19 | g.45364145_45364155dup | CA2338395774 | ERCC2 | c.816-28_816-18dup (n.816-28_816-18dup) n.845-28_845-18dup c.*74-28_*74-18dup (n.*74-28_*74-18dup) c.693-28_693-18dup (n.693-28_693-18dup) c.744-28_744-18dup (n.744-28_744-18dup) n.913-28_913-18dup c.582-28_582-18dup (n.582-28_582-18dup) n.453-28_453-18dup c.738-28_738-18dup (n.738-28_738-18dup) n.863-28_863-18dup | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364145_45364155del | CA9513608 | ERCC2 | c.816-28_816-18del (n.816-28_816-18del) n.845-28_845-18del c.*74-28_*74-18del (n.*74-28_*74-18del) c.693-28_693-18del (n.693-28_693-18del) c.744-28_744-18del (n.744-28_744-18del) n.913-28_913-18del c.582-28_582-18del (n.582-28_582-18del) n.453-28_453-18del c.738-28_738-18del (n.738-28_738-18del) n.863-28_863-18del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364138G>C | CA9513609 | ERCC2 | c.816-19C>G (n.816-19C>G) n.845-19C>G c.*74-19C>G (n.*74-19C>G) c.693-19C>G (n.693-19C>G) c.744-19C>G (n.744-19C>G) n.913-19C>G c.582-19C>G (n.582-19C>G) n.453-19C>G c.738-19C>G (n.738-19C>G) n.863-19C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364138G= | CA2338395776 | ERCC2 | c.816-19C= (n.816-19C=) n.845-19C= c.*74-19C= (n.*74-19C=) c.693-19C= (n.693-19C=) c.744-19C= (n.744-19C=) n.913-19C= c.582-19C= (n.582-19C=) n.453-19C= c.738-19C= (n.738-19C=) n.863-19C= |