UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45364002G>A | CA308966693 | ERCC2 | c.933C>T (p.Pro311=) n.962C>T c.*191C>T (n.*191C>T) c.810C>T (p.Pro270=) c.861C>T (p.Pro287=) c.56C>T n.1030C>T c.699C>T (p.Pro233=) c.855C>T (p.Pro285=) n.980C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364002G>C | CA507821968 | ERCC2 | c.933C>G (p.Pro311=) n.962C>G c.*191C>G (n.*191C>G) c.810C>G (p.Pro270=) c.861C>G (p.Pro287=) c.56C>G n.1030C>G c.699C>G (p.Pro233=) c.855C>G (p.Pro285=) n.980C>G | |
| 19 | g.45364002G= | CA2338395691 | ERCC2 | c.933C= (p.Pro311=) n.962C= c.*191C= (n.*191C=) c.810C= (p.Pro270=) c.861C= (p.Pro287=) c.56C= n.1030C= c.699C= (p.Pro233=) c.855C= (p.Pro285=) n.980C= | |
| 19 | g.45364002G>T | CA507821967 | ERCC2 | c.933C>A (p.Pro311=) n.962C>A c.*191C>A (n.*191C>A) c.810C>A (p.Pro270=) c.861C>A (p.Pro287=) c.56C>A n.1030C>A c.699C>A (p.Pro233=) c.855C>A (p.Pro285=) n.980C>A | ClinVar |
| 19 | g.45364003G>A | CA406373331 | ERCC2 | c.932C>T (p.Pro311Leu) n.961C>T c.*190C>T (n.*190C>T) c.809C>T (p.Pro270Leu) c.860C>T (p.Pro287Leu) c.55C>T n.1029C>T c.698C>T (p.Pro233Leu) c.854C>T (p.Pro285Leu) n.979C>T | |
| 19 | g.45364003G>C | CA406373327 | ERCC2 | c.932C>G (p.Pro311Arg) n.961C>G c.*190C>G (n.*190C>G) c.809C>G (p.Pro270Arg) c.860C>G (p.Pro287Arg) c.55C>G n.1029C>G c.698C>G (p.Pro233Arg) c.854C>G (p.Pro285Arg) n.979C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364003G= | CA2338395692 | ERCC2 | c.932C= (p.Pro311=) n.961C= c.*190C= (n.*190C=) c.809C= (p.Pro270=) c.860C= (p.Pro287=) c.55C= n.1029C= c.698C= (p.Pro233=) c.854C= (p.Pro285=) n.979C= | |
| 19 | g.45364003G>T | CA406373329 | ERCC2 | c.932C>A (p.Pro311His) n.961C>A c.*190C>A (n.*190C>A) c.809C>A (p.Pro270His) c.860C>A (p.Pro287His) c.55C>A n.1029C>A c.698C>A (p.Pro233His) c.854C>A (p.Pro285His) n.979C>A | gnomAD v4 |
| 19 | g.45364004G>A | CA406373333 | ERCC2 | c.931C>T (p.Pro311Ser) n.960C>T c.*189C>T (n.*189C>T) c.808C>T (p.Pro270Ser) c.859C>T (p.Pro287Ser) c.54C>T n.1028C>T c.697C>T (p.Pro233Ser) c.853C>T (p.Pro285Ser) n.978C>T | gnomAD v4 |
| 19 | g.45364004G>C | CA406373335 | ERCC2 | c.931C>G (p.Pro311Ala) n.960C>G c.*189C>G (n.*189C>G) c.808C>G (p.Pro270Ala) c.859C>G (p.Pro287Ala) c.54C>G n.1028C>G c.697C>G (p.Pro233Ala) c.853C>G (p.Pro285Ala) n.978C>G | |
| 19 | g.45364004G= | CA2338395693 | ERCC2 | c.931C= (p.Pro311=) n.960C= c.*189C= (n.*189C=) c.808C= (p.Pro270=) c.859C= (p.Pro287=) c.54C= n.1028C= c.697C= (p.Pro233=) c.853C= (p.Pro285=) n.978C= | |
| 19 | g.45364004G>T | CA406373337 | ERCC2 | c.931C>A (p.Pro311Thr) n.960C>A c.*189C>A (n.*189C>A) c.808C>A (p.Pro270Thr) c.859C>A (p.Pro287Thr) c.54C>A n.1028C>A c.697C>A (p.Pro233Thr) c.853C>A (p.Pro285Thr) n.978C>A | gnomAD v4 |
| 19 | g.45364005C>A | CA507821969 | ERCC2 | c.930G>T (p.Leu310=) n.959G>T c.*188G>T (n.*188G>T) c.807G>T (p.Leu269=) c.858G>T (p.Leu286=) c.53G>T n.1027G>T c.696G>T (p.Leu232=) c.852G>T (p.Leu284=) n.977G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364005C= | CA2338395694 | ERCC2 | c.930G= (p.Leu310=) n.959G= c.*188G= (n.*188G=) c.807G= (p.Leu269=) c.858G= (p.Leu286=) c.53G= n.1027G= c.696G= (p.Leu232=) c.852G= (p.Leu284=) n.977G= | |
| 19 | g.45364005C>G | CA507821970 | ERCC2 | c.930G>C (p.Leu310=) n.959G>C c.*188G>C (n.*188G>C) c.807G>C (p.Leu269=) c.858G>C (p.Leu286=) c.53G>C n.1027G>C c.696G>C (p.Leu232=) c.852G>C (p.Leu284=) n.977G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364005C>T | CA507821971 | ERCC2 | c.930G>A (p.Leu310=) n.959G>A c.*188G>A (n.*188G>A) c.807G>A (p.Leu269=) c.858G>A (p.Leu286=) c.53G>A n.1027G>A c.696G>A (p.Leu232=) c.852G>A (p.Leu284=) n.977G>A | gnomAD v4 |
| 19 | g.45364008_45364022dup | CA633480650 | ERCC2 | c.916_930dup (p.Leu310_Pro311insAlaAsnProValLeu) n.945_959dup c.*174_*188dup (n.*174_*188dup) c.793_807dup (p.Leu269_Pro270insAlaAsnProValLeu) c.844_858dup (p.Leu286_Pro287insAlaAsnProValLeu) c.39_53dup n.1013_1027dup c.682_696dup (p.Leu232_Pro233insAlaAsnProValLeu) c.838_852dup (p.Leu284_Pro285insAlaAsnProValLeu) n.963_977dup | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364006A>C | CA406373339 | ERCC2 | c.929T>G (p.Leu310Arg) n.958T>G c.*187T>G (n.*187T>G) c.806T>G (p.Leu269Arg) c.857T>G (p.Leu286Arg) c.52T>G n.1026T>G c.695T>G (p.Leu232Arg) c.851T>G (p.Leu284Arg) n.976T>G | |
| 19 | g.45364006A>G | CA406373342 | ERCC2 | c.929T>C (p.Leu310Pro) n.958T>C c.*187T>C (n.*187T>C) c.806T>C (p.Leu269Pro) c.857T>C (p.Leu286Pro) c.52T>C n.1026T>C c.695T>C (p.Leu232Pro) c.851T>C (p.Leu284Pro) n.976T>C | gnomAD v4 |
| 19 | g.45364006A>T | CA406373344 | ERCC2 | c.929T>A (p.Leu310Gln) n.958T>A c.*187T>A (n.*187T>A) c.806T>A (p.Leu269Gln) c.857T>A (p.Leu286Gln) c.52T>A n.1026T>A c.695T>A (p.Leu232Gln) c.851T>A (p.Leu284Gln) n.976T>A | |
| 19 | g.45364007G>A | CA507821972 | ERCC2 | c.928C>T (p.Leu310=) n.957C>T c.*186C>T (n.*186C>T) c.805C>T (p.Leu269=) c.856C>T (p.Leu286=) c.51C>T n.1025C>T c.694C>T (p.Leu232=) c.850C>T (p.Leu284=) n.975C>T | dbSNP gnomAD v4 |
| 19 | g.45364007G>C | CA406373347 | ERCC2 | c.928C>G (p.Leu310Val) n.957C>G c.*186C>G (n.*186C>G) c.805C>G (p.Leu269Val) c.856C>G (p.Leu286Val) c.51C>G n.1025C>G c.694C>G (p.Leu232Val) c.850C>G (p.Leu284Val) n.975C>G | gnomAD v4 |
| 19 | g.45364007G= | CA2338395695 | ERCC2 | c.928C= (p.Leu310=) n.957C= c.*186C= (n.*186C=) c.805C= (p.Leu269=) c.856C= (p.Leu286=) c.51C= n.1025C= c.694C= (p.Leu232=) c.850C= (p.Leu284=) n.975C= | |
| 19 | g.45364007G>T | CA406373349 | ERCC2 | c.928C>A (p.Leu310Met) n.957C>A c.*186C>A (n.*186C>A) c.805C>A (p.Leu269Met) c.856C>A (p.Leu286Met) c.51C>A n.1025C>A c.694C>A (p.Leu232Met) c.850C>A (p.Leu284Met) n.975C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364008C>A | CA507821973 | ERCC2 | c.927G>T (p.Val309=) n.956G>T c.*185G>T (n.*185G>T) c.804G>T (p.Val268=) c.855G>T (p.Val285=) c.50G>T n.1024G>T c.693G>T (p.Val231=) c.849G>T (p.Val283=) n.974G>T | gnomAD v4 |
| 19 | g.45364008C>G | CA507821974 | ERCC2 | c.927G>C (p.Val309=) n.956G>C c.*185G>C (n.*185G>C) c.804G>C (p.Val268=) c.855G>C (p.Val285=) c.50G>C n.1024G>C c.693G>C (p.Val231=) c.849G>C (p.Val283=) n.974G>C | |
| 19 | g.45364008C>T | CA507821975 | ERCC2 | c.927G>A (p.Val309=) n.956G>A c.*185G>A (n.*185G>A) c.804G>A (p.Val268=) c.855G>A (p.Val285=) c.50G>A n.1024G>A c.693G>A (p.Val231=) c.849G>A (p.Val283=) n.974G>A | dbSNP |
| 19 | g.45364009A>C | CA406373352 | ERCC2 | c.926T>G (p.Val309Gly) n.955T>G c.*184T>G (n.*184T>G) c.803T>G (p.Val268Gly) c.854T>G (p.Val285Gly) c.49T>G n.1023T>G c.692T>G (p.Val231Gly) c.848T>G (p.Val283Gly) n.973T>G | |
| 19 | g.45364009A>G | CA406373354 | ERCC2 | c.926T>C (p.Val309Ala) n.955T>C c.*184T>C (n.*184T>C) c.803T>C (p.Val268Ala) c.854T>C (p.Val285Ala) c.49T>C n.1023T>C c.692T>C (p.Val231Ala) c.848T>C (p.Val283Ala) n.973T>C | |
| 19 | g.45364009A>T | CA406373356 | ERCC2 | c.926T>A (p.Val309Glu) n.955T>A c.*184T>A (n.*184T>A) c.803T>A (p.Val268Glu) c.854T>A (p.Val285Glu) c.49T>A n.1023T>A c.692T>A (p.Val231Glu) c.848T>A (p.Val283Glu) n.973T>A | |
| 19 | g.45364010C>A | CA406373363 | ERCC2 | c.925G>T (p.Val309Leu) n.954G>T c.*183G>T (n.*183G>T) c.802G>T (p.Val268Leu) c.853G>T (p.Val285Leu) c.48G>T n.1022G>T c.691G>T (p.Val231Leu) c.847G>T (p.Val283Leu) n.972G>T | gnomAD v4 |
| 19 | g.45364010C= | CA2338395696 | ERCC2 | c.925G= (p.Val309=) n.954G= c.*183G= (n.*183G=) c.802G= (p.Val268=) c.853G= (p.Val285=) c.48G= n.1022G= c.691G= (p.Val231=) c.847G= (p.Val283=) n.972G= | |
| 19 | g.45364010C>G | CA406373358 | ERCC2 | c.925G>C (p.Val309Leu) n.954G>C c.*183G>C (n.*183G>C) c.802G>C (p.Val268Leu) c.853G>C (p.Val285Leu) c.48G>C n.1022G>C c.691G>C (p.Val231Leu) c.847G>C (p.Val283Leu) n.972G>C | dbSNP |
| 19 | g.45364010C>T | CA406373361 | ERCC2 | c.925G>A (p.Val309Met) n.954G>A c.*183G>A (n.*183G>A) c.802G>A (p.Val268Met) c.853G>A (p.Val285Met) c.48G>A n.1022G>A c.691G>A (p.Val231Met) c.847G>A (p.Val283Met) n.972G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364011G>A | CA308966698 | ERCC2 | c.924C>T (p.Pro308=) n.953C>T c.*182C>T (n.*182C>T) c.801C>T (p.Pro267=) c.852C>T (p.Pro284=) c.47C>T n.1021C>T c.690C>T (p.Pro230=) c.846C>T (p.Pro282=) n.971C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364011G>C | CA507821976 | ERCC2 | c.924C>G (p.Pro308=) n.953C>G c.*182C>G (n.*182C>G) c.801C>G (p.Pro267=) c.852C>G (p.Pro284=) c.47C>G n.1021C>G c.690C>G (p.Pro230=) c.846C>G (p.Pro282=) n.971C>G | |
| 19 | g.45364011G= | CA2338395697 | ERCC2 | c.924C= (p.Pro308=) n.953C= c.*182C= (n.*182C=) c.801C= (p.Pro267=) c.852C= (p.Pro284=) c.47C= n.1021C= c.690C= (p.Pro230=) c.846C= (p.Pro282=) n.971C= | |
| 19 | g.45364011G>T | CA507821977 | ERCC2 | c.924C>A (p.Pro308=) n.953C>A c.*182C>A (n.*182C>A) c.801C>A (p.Pro267=) c.852C>A (p.Pro284=) c.47C>A n.1021C>A c.690C>A (p.Pro230=) c.846C>A (p.Pro282=) n.971C>A | gnomAD v4 |
| 19 | g.45364012G>A | CA406373366 | ERCC2 | c.923C>T (p.Pro308Leu) n.952C>T c.*181C>T (n.*181C>T) c.800C>T (p.Pro267Leu) c.851C>T (p.Pro284Leu) c.46C>T n.1020C>T c.689C>T (p.Pro230Leu) c.845C>T (p.Pro282Leu) n.970C>T | ClinVar COSMIC COSMIC |
| 19 | g.45364012G>C | CA406373367 | ERCC2 | c.923C>G (p.Pro308Arg) n.952C>G c.*181C>G (n.*181C>G) c.800C>G (p.Pro267Arg) c.851C>G (p.Pro284Arg) c.46C>G n.1020C>G c.689C>G (p.Pro230Arg) c.845C>G (p.Pro282Arg) n.970C>G | gnomAD v4 |
| 19 | g.45364012G>T | CA406373370 | ERCC2 | c.923C>A (p.Pro308His) n.952C>A c.*181C>A (n.*181C>A) c.800C>A (p.Pro267His) c.851C>A (p.Pro284His) c.46C>A n.1020C>A c.689C>A (p.Pro230His) c.845C>A (p.Pro282His) n.970C>A | dbSNP gnomAD v4 |
| 19 | g.45364013G>A | CA406373374 | ERCC2 | c.922C>T (p.Pro308Ser) n.951C>T c.*180C>T (n.*180C>T) c.799C>T (p.Pro267Ser) c.850C>T (p.Pro284Ser) c.45C>T n.1019C>T c.688C>T (p.Pro230Ser) c.844C>T (p.Pro282Ser) n.969C>T | ClinVar gnomAD v4 |
| 19 | g.45364013G>C | CA406373376 | ERCC2 | c.922C>G (p.Pro308Ala) n.951C>G c.*180C>G (n.*180C>G) c.799C>G (p.Pro267Ala) c.850C>G (p.Pro284Ala) c.45C>G n.1019C>G c.688C>G (p.Pro230Ala) c.844C>G (p.Pro282Ala) n.969C>G | |
| 19 | g.45364013G>T | CA406373378 | ERCC2 | c.922C>A (p.Pro308Thr) n.951C>A c.*180C>A (n.*180C>A) c.799C>A (p.Pro267Thr) c.850C>A (p.Pro284Thr) c.45C>A n.1019C>A c.688C>A (p.Pro230Thr) c.844C>A (p.Pro282Thr) n.969C>A | gnomAD v4 |
| 19 | g.45364014G>A | CA507821978 | ERCC2 | c.921C>T (p.Asn307=) n.950C>T c.*179C>T (n.*179C>T) c.798C>T (p.Asn266=) c.849C>T (p.Asn283=) c.44C>T n.1018C>T c.687C>T (p.Asn229=) c.843C>T (p.Asn281=) n.968C>T | |
| 19 | g.45364014G>C | CA9513579 | ERCC2 | c.921C>G (p.Asn307Lys) n.950C>G c.*179C>G (n.*179C>G) c.798C>G (p.Asn266Lys) c.849C>G (p.Asn283Lys) c.44C>G n.1018C>G c.687C>G (p.Asn229Lys) c.843C>G (p.Asn281Lys) n.968C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364014G= | CA2338395698 | ERCC2 | c.921C= (p.Asn307=) n.950C= c.*179C= (n.*179C=) c.798C= (p.Asn266=) c.849C= (p.Asn283=) c.44C= n.1018C= c.687C= (p.Asn229=) c.843C= (p.Asn281=) n.968C= | |
| 19 | g.45364014G>T | CA406373387 | ERCC2 | c.921C>A (p.Asn307Lys) n.950C>A c.*179C>A (n.*179C>A) c.798C>A (p.Asn266Lys) c.849C>A (p.Asn283Lys) c.44C>A n.1018C>A c.687C>A (p.Asn229Lys) c.843C>A (p.Asn281Lys) n.968C>A | ClinVar gnomAD v4 |
| 19 | g.45364015T>A | CA406373389 | ERCC2 | c.920A>T (p.Asn307Ile) n.949A>T c.*178A>T (n.*178A>T) c.797A>T (p.Asn266Ile) c.848A>T (p.Asn283Ile) c.43A>T n.1017A>T c.686A>T (p.Asn229Ile) c.842A>T (p.Asn281Ile) n.967A>T | |
| 19 | g.45364015T>C | CA406373390 | ERCC2 | c.920A>G (p.Asn307Ser) n.949A>G c.*178A>G (n.*178A>G) c.797A>G (p.Asn266Ser) c.848A>G (p.Asn283Ser) c.43A>G n.1017A>G c.686A>G (p.Asn229Ser) c.842A>G (p.Asn281Ser) n.967A>G | |
| 19 | g.45364015T>G | CA406373392 | ERCC2 | c.920A>C (p.Asn307Thr) n.949A>C c.*178A>C (n.*178A>C) c.797A>C (p.Asn266Thr) c.848A>C (p.Asn283Thr) c.43A>C n.1017A>C c.686A>C (p.Asn229Thr) c.842A>C (p.Asn281Thr) n.967A>C | dbSNP |
| 19 | g.45364016T>A | CA406373395 | ERCC2 | c.919A>T (p.Asn307Tyr) n.948A>T c.*177A>T (n.*177A>T) c.796A>T (p.Asn266Tyr) c.847A>T (p.Asn283Tyr) c.42A>T n.1016A>T c.685A>T (p.Asn229Tyr) c.841A>T (p.Asn281Tyr) n.966A>T | |
| 19 | g.45364016T>C | CA406373400 | ERCC2 | c.919A>G (p.Asn307Asp) n.948A>G c.*177A>G (n.*177A>G) c.796A>G (p.Asn266Asp) c.847A>G (p.Asn283Asp) c.42A>G n.1016A>G c.685A>G (p.Asn229Asp) c.841A>G (p.Asn281Asp) n.966A>G | |
| 19 | g.45364016T>G | CA406373397 | ERCC2 | c.919A>C (p.Asn307His) n.948A>C c.*177A>C (n.*177A>C) c.796A>C (p.Asn266His) c.847A>C (p.Asn283His) c.42A>C n.1016A>C c.685A>C (p.Asn229His) c.841A>C (p.Asn281His) n.966A>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364017G>A | CA507953492 | ERCC2 | c.918C>T (p.Ala306=) n.947C>T c.*176C>T (n.*176C>T) c.795C>T (p.Ala265=) c.846C>T (p.Ala282=) c.41C>T n.1015C>T c.684C>T (p.Ala228=) c.840C>T (p.Ala280=) n.965C>T | dbSNP |
| 19 | g.45364017G>C | CA507953491 | ERCC2 | c.918C>G (p.Ala306=) n.947C>G c.*176C>G (n.*176C>G) c.795C>G (p.Ala265=) c.846C>G (p.Ala282=) c.41C>G n.1015C>G c.684C>G (p.Ala228=) c.840C>G (p.Ala280=) n.965C>G | |
| 19 | g.45364017G= | CA2338395699 | ERCC2 | c.918C= (p.Ala306=) n.947C= c.*176C= (n.*176C=) c.795C= (p.Ala265=) c.846C= (p.Ala282=) c.41C= n.1015C= c.684C= (p.Ala228=) c.840C= (p.Ala280=) n.965C= | |
| 19 | g.45364017G>T | CA507953490 | ERCC2 | c.918C>A (p.Ala306=) n.947C>A c.*176C>A (n.*176C>A) c.795C>A (p.Ala265=) c.846C>A (p.Ala282=) c.41C>A n.1015C>A c.684C>A (p.Ala228=) c.840C>A (p.Ala280=) n.965C>A | gnomAD v4 |
| 19 | g.45364018G>A | CA406373402 | ERCC2 | c.917C>T (p.Ala306Val) n.946C>T c.*175C>T (n.*175C>T) c.794C>T (p.Ala265Val) c.845C>T (p.Ala282Val) c.40C>T n.1014C>T c.683C>T (p.Ala228Val) c.839C>T (p.Ala280Val) n.964C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364018G>C | CA406373406 | ERCC2 | c.917C>G (p.Ala306Gly) n.946C>G c.*175C>G (n.*175C>G) c.794C>G (p.Ala265Gly) c.845C>G (p.Ala282Gly) c.40C>G n.1014C>G c.683C>G (p.Ala228Gly) c.839C>G (p.Ala280Gly) n.964C>G | |
| 19 | g.45364018G= | CA2338395700 | ERCC2 | c.917C= (p.Ala306=) n.946C= c.*175C= (n.*175C=) c.794C= (p.Ala265=) c.845C= (p.Ala282=) c.40C= n.1014C= c.683C= (p.Ala228=) c.839C= (p.Ala280=) n.964C= | |
| 19 | g.45364018G>T | CA406373405 | ERCC2 | c.917C>A (p.Ala306Asp) n.946C>A c.*175C>A (n.*175C>A) c.794C>A (p.Ala265Asp) c.845C>A (p.Ala282Asp) c.40C>A n.1014C>A c.683C>A (p.Ala228Asp) c.839C>A (p.Ala280Asp) n.964C>A | gnomAD v4 |
| 19 | g.45364019C>A | CA406373409 | ERCC2 | c.916G>T (p.Ala306Ser) n.945G>T c.*174G>T (n.*174G>T) c.793G>T (p.Ala265Ser) c.844G>T (p.Ala282Ser) c.39G>T n.1013G>T c.682G>T (p.Ala228Ser) c.838G>T (p.Ala280Ser) n.963G>T | |
| 19 | g.45364019C= | CA2338395701 | ERCC2 | c.916G= (p.Ala306=) n.945G= c.*174G= (n.*174G=) c.793G= (p.Ala265=) c.844G= (p.Ala282=) c.39G= n.1013G= c.682G= (p.Ala228=) c.838G= (p.Ala280=) n.963G= | |
| 19 | g.45364019C>G | CA406373412 | ERCC2 | c.916G>C (p.Ala306Pro) n.945G>C c.*174G>C (n.*174G>C) c.793G>C (p.Ala265Pro) c.844G>C (p.Ala282Pro) c.39G>C n.1013G>C c.682G>C (p.Ala228Pro) c.838G>C (p.Ala280Pro) n.963G>C | dbSNP |
| 19 | g.45364019C>T | CA406373411 | ERCC2 | c.916G>A (p.Ala306Thr) n.945G>A c.*174G>A (n.*174G>A) c.793G>A (p.Ala265Thr) c.844G>A (p.Ala282Thr) c.39G>A n.1013G>A c.682G>A (p.Ala228Thr) c.838G>A (p.Ala280Thr) n.963G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364020C>A | CA507953500 | ERCC2 | c.915G>T (p.Leu305=) n.944G>T c.*173G>T (n.*173G>T) c.792G>T (p.Leu264=) c.843G>T (p.Leu281=) c.38G>T n.1012G>T c.681G>T (p.Leu227=) c.837G>T (p.Leu279=) n.962G>T | |
| 19 | g.45364020C= | CA2338395702 | ERCC2 | c.915G= (p.Leu305=) n.944G= c.*173G= (n.*173G=) c.792G= (p.Leu264=) c.843G= (p.Leu281=) c.38G= n.1012G= c.681G= (p.Leu227=) c.837G= (p.Leu279=) n.962G= | |
| 19 | g.45364020C>G | CA507953498 | ERCC2 | c.915G>C (p.Leu305=) n.944G>C c.*173G>C (n.*173G>C) c.792G>C (p.Leu264=) c.843G>C (p.Leu281=) c.38G>C n.1012G>C c.681G>C (p.Leu227=) c.837G>C (p.Leu279=) n.962G>C | |
| 19 | g.45364020C>T | CA9513580 | ERCC2 | c.915G>A (p.Leu305=) n.944G>A c.*173G>A (n.*173G>A) c.792G>A (p.Leu264=) c.843G>A (p.Leu281=) c.38G>A n.1012G>A c.681G>A (p.Leu227=) c.837G>A (p.Leu279=) n.962G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364021A>C | CA406373419 | ERCC2 | c.914T>G (p.Leu305Arg) n.943T>G c.*172T>G (n.*172T>G) c.791T>G (p.Leu264Arg) c.842T>G (p.Leu281Arg) c.37T>G n.1011T>G c.680T>G (p.Leu227Arg) c.836T>G (p.Leu279Arg) n.961T>G | |
| 19 | g.45364021A>G | CA406373425 | ERCC2 | c.914T>C (p.Leu305Pro) n.943T>C c.*172T>C (n.*172T>C) c.791T>C (p.Leu264Pro) c.842T>C (p.Leu281Pro) c.37T>C n.1011T>C c.680T>C (p.Leu227Pro) c.836T>C (p.Leu279Pro) n.961T>C | gnomAD v4 |
| 19 | g.45364021A>T | CA406373426 | ERCC2 | c.914T>A (p.Leu305Gln) n.943T>A c.*172T>A (n.*172T>A) c.791T>A (p.Leu264Gln) c.842T>A (p.Leu281Gln) c.37T>A n.1011T>A c.680T>A (p.Leu227Gln) c.836T>A (p.Leu279Gln) n.961T>A | |
| 19 | g.45364022G>A | CA507953501 | ERCC2 | c.913C>T (p.Leu305=) n.942C>T c.*171C>T (n.*171C>T) c.790C>T (p.Leu264=) c.841C>T (p.Leu281=) c.36C>T n.1010C>T c.679C>T (p.Leu227=) c.835C>T (p.Leu279=) n.960C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364022G>C | CA406373429 | ERCC2 | c.913C>G (p.Leu305Val) n.942C>G c.*171C>G (n.*171C>G) c.790C>G (p.Leu264Val) c.841C>G (p.Leu281Val) c.36C>G n.1010C>G c.679C>G (p.Leu227Val) c.835C>G (p.Leu279Val) n.960C>G | |
| 19 | g.45364022G>T | CA406373431 | ERCC2 | c.913C>A (p.Leu305Met) n.942C>A c.*171C>A (n.*171C>A) c.790C>A (p.Leu264Met) c.841C>A (p.Leu281Met) c.36C>A n.1010C>A c.679C>A (p.Leu227Met) c.835C>A (p.Leu279Met) n.960C>A | gnomAD v4 |
| 19 | g.45364023G>A | CA9513581 | ERCC2 | c.912C>T (p.His304=) n.941C>T c.*170C>T (n.*170C>T) c.789C>T (p.His263=) c.840C>T (p.His280=) c.35C>T n.1009C>T c.678C>T (p.His226=) c.834C>T (p.His278=) n.959C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364023G>C | CA406373433 | ERCC2 | c.912C>G (p.His304Gln) n.941C>G c.*170C>G (n.*170C>G) c.789C>G (p.His263Gln) c.840C>G (p.His280Gln) c.35C>G n.1009C>G c.678C>G (p.His226Gln) c.834C>G (p.His278Gln) n.959C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.45364023G= | CA2338395703 | ERCC2 | c.912C= (p.His304=) n.941C= c.*170C= (n.*170C=) c.789C= (p.His263=) c.840C= (p.His280=) c.35C= n.1009C= c.678C= (p.His226=) c.834C= (p.His278=) n.959C= | |
| 19 | g.45364023G>T | CA406373435 | ERCC2 | c.912C>A (p.His304Gln) n.941C>A c.*170C>A (n.*170C>A) c.789C>A (p.His263Gln) c.840C>A (p.His280Gln) c.35C>A n.1009C>A c.678C>A (p.His226Gln) c.834C>A (p.His278Gln) n.959C>A | gnomAD v4 |
| 19 | g.45364024T>A | CA406373437 | ERCC2 | c.911A>T (p.His304Leu) n.940A>T c.*169A>T (n.*169A>T) c.788A>T (p.His263Leu) c.839A>T (p.His280Leu) c.34A>T n.1008A>T c.677A>T (p.His226Leu) c.833A>T (p.His278Leu) n.958A>T | |
| 19 | g.45364024T>C | CA406373439 | ERCC2 | c.911A>G (p.His304Arg) n.940A>G c.*169A>G (n.*169A>G) c.788A>G (p.His263Arg) c.839A>G (p.His280Arg) c.34A>G n.1008A>G c.677A>G (p.His226Arg) c.833A>G (p.His278Arg) n.958A>G | |
| 19 | g.45364024T>G | CA406373441 | ERCC2 | c.911A>C (p.His304Pro) n.940A>C c.*169A>C (n.*169A>C) c.788A>C (p.His263Pro) c.839A>C (p.His280Pro) c.34A>C n.1008A>C c.677A>C (p.His226Pro) c.833A>C (p.His278Pro) n.958A>C | dbSNP |
| 19 | g.45364025G>A | CA406373443 | ERCC2 | c.910C>T (p.His304Tyr) n.939C>T c.*168C>T (n.*168C>T) c.787C>T (p.His263Tyr) c.838C>T (p.His280Tyr) c.33C>T n.1007C>T c.676C>T (p.His226Tyr) c.832C>T (p.His278Tyr) n.957C>T | ClinVar gnomAD v4 |
| 19 | g.45364025G>C | CA406373445 | ERCC2 | c.910C>G (p.His304Asp) n.939C>G c.*168C>G (n.*168C>G) c.787C>G (p.His263Asp) c.838C>G (p.His280Asp) c.33C>G n.1007C>G c.676C>G (p.His226Asp) c.832C>G (p.His278Asp) n.957C>G | gnomAD v4 |
| 19 | g.45364025G>T | CA406373444 | ERCC2 | c.910C>A (p.His304Asn) n.939C>A c.*168C>A (n.*168C>A) c.787C>A (p.His263Asn) c.838C>A (p.His280Asn) c.33C>A n.1007C>A c.676C>A (p.His226Asn) c.832C>A (p.His278Asn) n.957C>A | gnomAD v4 |
| 19 | g.45364027del | CA2585788654 | ERCC2 | c.910del (p.His304ThrfsTer30) n.939del c.*168del (n.*168del) c.787del (p.His263ThrfsTer30) c.838del (p.His280ThrfsTer?) c.33del n.1007del c.838del (p.His280ThrfsTer30) c.676del (p.His226ThrfsTer30) c.832del (p.His278ThrfsTer30) n.957del | gnomAD v4 |
| 19 | g.45364026G>A | CA507953512 | ERCC2 | c.909C>T (p.Ala303=) n.938C>T c.*167C>T (n.*167C>T) c.786C>T (p.Ala262=) c.837C>T (p.Ala279=) c.32C>T n.1006C>T c.675C>T (p.Ala225=) c.831C>T (p.Ala277=) n.956C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364026G>C | CA507953515 | ERCC2 | c.909C>G (p.Ala303=) n.938C>G c.*167C>G (n.*167C>G) c.786C>G (p.Ala262=) c.837C>G (p.Ala279=) c.32C>G n.1006C>G c.675C>G (p.Ala225=) c.831C>G (p.Ala277=) n.956C>G | |
| 19 | g.45364026G= | CA2338395704 | ERCC2 | c.909C= (p.Ala303=) n.938C= c.*167C= (n.*167C=) c.786C= (p.Ala262=) c.837C= (p.Ala279=) c.32C= n.1006C= c.675C= (p.Ala225=) c.831C= (p.Ala277=) n.956C= | |
| 19 | g.45364026G>T | CA507953516 | ERCC2 | c.909C>A (p.Ala303=) n.938C>A c.*167C>A (n.*167C>A) c.786C>A (p.Ala262=) c.837C>A (p.Ala279=) c.32C>A n.1006C>A c.675C>A (p.Ala225=) c.831C>A (p.Ala277=) n.956C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364027G>A | CA406373447 | ERCC2 | c.908C>T (p.Ala303Val) n.937C>T c.*166C>T (n.*166C>T) c.785C>T (p.Ala262Val) c.836C>T (p.Ala279Val) c.31C>T n.1005C>T c.674C>T (p.Ala225Val) c.830C>T (p.Ala277Val) n.955C>T | |
| 19 | g.45364027G>C | CA406373448 | ERCC2 | c.908C>G (p.Ala303Gly) n.937C>G c.*166C>G (n.*166C>G) c.785C>G (p.Ala262Gly) c.836C>G (p.Ala279Gly) c.31C>G n.1005C>G c.674C>G (p.Ala225Gly) c.830C>G (p.Ala277Gly) n.955C>G | |
| 19 | g.45364027G>T | CA406373450 | ERCC2 | c.908C>A (p.Ala303Asp) n.937C>A c.*166C>A (n.*166C>A) c.785C>A (p.Ala262Asp) c.836C>A (p.Ala279Asp) c.31C>A n.1005C>A c.674C>A (p.Ala225Asp) c.830C>A (p.Ala277Asp) n.955C>A | gnomAD v4 |
| 19 | g.45364028C>A | CA406373451 | ERCC2 | c.907G>T (p.Ala303Ser) n.936G>T c.*165G>T (n.*165G>T) c.784G>T (p.Ala262Ser) c.835G>T (p.Ala279Ser) c.30G>T n.1004G>T c.673G>T (p.Ala225Ser) c.829G>T (p.Ala277Ser) n.954G>T | gnomAD v4 |
| 19 | g.45364028C>G | CA406373452 | ERCC2 | c.907G>C (p.Ala303Pro) n.936G>C c.*165G>C (n.*165G>C) c.784G>C (p.Ala262Pro) c.835G>C (p.Ala279Pro) c.30G>C n.1004G>C c.673G>C (p.Ala225Pro) c.829G>C (p.Ala277Pro) n.954G>C | |
| 19 | g.45364028C>T | CA406373454 | ERCC2 | c.907G>A (p.Ala303Thr) n.936G>A c.*165G>A (n.*165G>A) c.784G>A (p.Ala262Thr) c.835G>A (p.Ala279Thr) c.30G>A n.1004G>A c.673G>A (p.Ala225Thr) c.829G>A (p.Ala277Thr) n.954G>A | dbSNP gnomAD v4 |
| 19 | g.45364029G>A | CA9513582 | ERCC2 | c.906C>T (p.Asp302=) n.935C>T c.*164C>T (n.*164C>T) c.783C>T (p.Asp261=) c.834C>T (p.Asp278=) c.29C>T n.1003C>T c.672C>T (p.Asp224=) c.828C>T (p.Asp276=) n.953C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.45364029G>C | CA406373461 | ERCC2 | c.906C>G (p.Asp302Glu) n.935C>G c.*164C>G (n.*164C>G) c.783C>G (p.Asp261Glu) c.834C>G (p.Asp278Glu) c.29C>G n.1003C>G c.672C>G (p.Asp224Glu) c.828C>G (p.Asp276Glu) n.953C>G | |
| 19 | g.45364029G= | CA2338395705 | ERCC2 | c.906C= (p.Asp302=) n.935C= c.*164C= (n.*164C=) c.783C= (p.Asp261=) c.834C= (p.Asp278=) c.29C= n.1003C= c.672C= (p.Asp224=) c.828C= (p.Asp276=) n.953C= | |
| 19 | g.45364029G>T | CA406373464 | ERCC2 | c.906C>A (p.Asp302Glu) n.935C>A c.*164C>A (n.*164C>A) c.783C>A (p.Asp261Glu) c.834C>A (p.Asp278Glu) c.29C>A n.1003C>A c.672C>A (p.Asp224Glu) c.828C>A (p.Asp276Glu) n.953C>A | gnomAD v4 |
| 19 | g.45364030T>A | CA406373469 | ERCC2 | c.905A>T (p.Asp302Val) n.934A>T c.*163A>T (n.*163A>T) c.782A>T (p.Asp261Val) c.833A>T (p.Asp278Val) c.28A>T n.1002A>T c.671A>T (p.Asp224Val) c.827A>T (p.Asp276Val) n.952A>T | |
| 19 | g.45364030T>C | CA406373470 | ERCC2 | c.905A>G (p.Asp302Gly) n.934A>G c.*163A>G (n.*163A>G) c.782A>G (p.Asp261Gly) c.833A>G (p.Asp278Gly) c.28A>G n.1002A>G c.671A>G (p.Asp224Gly) c.827A>G (p.Asp276Gly) n.952A>G | dbSNP gnomAD v4 |
| 19 | g.45364030T>G | CA406373467 | ERCC2 | c.905A>C (p.Asp302Ala) n.934A>C c.*163A>C (n.*163A>C) c.782A>C (p.Asp261Ala) c.833A>C (p.Asp278Ala) c.28A>C n.1002A>C c.671A>C (p.Asp224Ala) c.827A>C (p.Asp276Ala) n.952A>C | |
| 19 | g.45364031C>A | CA406373472 | ERCC2 | c.904G>T (p.Asp302Tyr) n.933G>T c.*162G>T (n.*162G>T) c.781G>T (p.Asp261Tyr) c.832G>T (p.Asp278Tyr) c.27G>T n.1001G>T c.670G>T (p.Asp224Tyr) c.826G>T (p.Asp276Tyr) n.951G>T | |
| 19 | g.45364031C= | CA2338395706 | ERCC2 | c.904G= (p.Asp302=) n.933G= c.*162G= (n.*162G=) c.781G= (p.Asp261=) c.832G= (p.Asp278=) c.27G= n.1001G= c.670G= (p.Asp224=) c.826G= (p.Asp276=) n.951G= | |
| 19 | g.45364031C>G | CA406373474 | ERCC2 | c.904G>C (p.Asp302His) n.933G>C c.*162G>C (n.*162G>C) c.781G>C (p.Asp261His) c.832G>C (p.Asp278His) c.27G>C n.1001G>C c.670G>C (p.Asp224His) c.826G>C (p.Asp276His) n.951G>C | dbSNP |
| 19 | g.45364031C>T | CA406373475 | ERCC2 | c.904G>A (p.Asp302Asn) n.933G>A c.*162G>A (n.*162G>A) c.781G>A (p.Asp261Asn) c.832G>A (p.Asp278Asn) c.27G>A n.1001G>A c.670G>A (p.Asp224Asn) c.826G>A (p.Asp276Asn) n.951G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364032C>A | CA507953525 | ERCC2 | c.903G>T (p.Thr301=) n.932G>T c.*161G>T (n.*161G>T) c.780G>T (p.Thr260=) c.831G>T (p.Thr277=) c.26G>T n.1000G>T c.669G>T (p.Thr223=) c.825G>T (p.Thr275=) n.950G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364032C= | CA2338395707 | ERCC2 | c.903G= (p.Thr301=) n.932G= c.*161G= (n.*161G=) c.780G= (p.Thr260=) c.831G= (p.Thr277=) c.26G= n.1000G= c.669G= (p.Thr223=) c.825G= (p.Thr275=) n.950G= | |
| 19 | g.45364032C>G | CA507953527 | ERCC2 | c.903G>C (p.Thr301=) n.932G>C c.*161G>C (n.*161G>C) c.780G>C (p.Thr260=) c.831G>C (p.Thr277=) c.26G>C n.1000G>C c.669G>C (p.Thr223=) c.825G>C (p.Thr275=) n.950G>C | |
| 19 | g.45364032C>T | CA507953528 | ERCC2 | c.903G>A (p.Thr301=) n.932G>A c.*161G>A (n.*161G>A) c.780G>A (p.Thr260=) c.831G>A (p.Thr277=) c.26G>A n.1000G>A c.669G>A (p.Thr223=) c.825G>A (p.Thr275=) n.950G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364033G>A | CA9513583 | ERCC2 | c.902C>T (p.Thr301Met) n.931C>T c.*160C>T (n.*160C>T) c.779C>T (p.Thr260Met) c.830C>T (p.Thr277Met) c.25C>T n.999C>T c.668C>T (p.Thr223Met) c.824C>T (p.Thr275Met) n.949C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.45364033G>C | CA406373477 | ERCC2 | c.902C>G (p.Thr301Arg) n.931C>G c.*160C>G (n.*160C>G) c.779C>G (p.Thr260Arg) c.830C>G (p.Thr277Arg) c.25C>G n.999C>G c.668C>G (p.Thr223Arg) c.824C>G (p.Thr275Arg) n.949C>G | gnomAD v4 |
| 19 | g.45364033G= | CA2338395708 | ERCC2 | c.902C= (p.Thr301=) n.931C= c.*160C= (n.*160C=) c.779C= (p.Thr260=) c.830C= (p.Thr277=) c.25C= n.999C= c.668C= (p.Thr223=) c.824C= (p.Thr275=) n.949C= | |
| 19 | g.45364033G>T | CA9513584 | ERCC2 | c.902C>A (p.Thr301Lys) n.931C>A c.*160C>A (n.*160C>A) c.779C>A (p.Thr260Lys) c.830C>A (p.Thr277Lys) c.25C>A n.999C>A c.668C>A (p.Thr223Lys) c.824C>A (p.Thr275Lys) n.949C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364034T>A | CA406373480 | ERCC2 | c.901A>T (p.Thr301Ser) n.930A>T c.*159A>T (n.*159A>T) c.778A>T (p.Thr260Ser) c.829A>T (p.Thr277Ser) c.24A>T n.998A>T c.667A>T (p.Thr223Ser) c.823A>T (p.Thr275Ser) n.948A>T | dbSNP |
| 19 | g.45364034T>C | CA406373482 | ERCC2 | c.901A>G (p.Thr301Ala) n.930A>G c.*159A>G (n.*159A>G) c.778A>G (p.Thr260Ala) c.829A>G (p.Thr277Ala) c.24A>G n.998A>G c.667A>G (p.Thr223Ala) c.823A>G (p.Thr275Ala) n.948A>G | dbSNP |
| 19 | g.45364034T>G | CA406373484 | ERCC2 | c.901A>C (p.Thr301Pro) n.930A>C c.*159A>C (n.*159A>C) c.778A>C (p.Thr260Pro) c.829A>C (p.Thr277Pro) c.24A>C n.998A>C c.667A>C (p.Thr223Pro) c.823A>C (p.Thr275Pro) n.948A>C | |
| 19 | g.45364035C>A | CA406373486 | ERCC2 | c.900G>T (p.Glu300Asp) n.929G>T c.*158G>T (n.*158G>T) c.777G>T (p.Glu259Asp) c.828G>T (p.Glu276Asp) c.23G>T n.997G>T c.666G>T (p.Glu222Asp) c.822G>T (p.Glu274Asp) n.947G>T | |
| 19 | g.45364035C>G | CA406373488 | ERCC2 | c.900G>C (p.Glu300Asp) n.929G>C c.*158G>C (n.*158G>C) c.777G>C (p.Glu259Asp) c.828G>C (p.Glu276Asp) c.23G>C n.997G>C c.666G>C (p.Glu222Asp) c.822G>C (p.Glu274Asp) n.947G>C | |
| 19 | g.45364035C>T | CA507953529 | ERCC2 | c.900G>A (p.Glu300=) n.929G>A c.*158G>A (n.*158G>A) c.777G>A (p.Glu259=) c.828G>A (p.Glu276=) c.23G>A n.997G>A c.666G>A (p.Glu222=) c.822G>A (p.Glu274=) n.947G>A | gnomAD v4 |
| 19 | g.45364036T>A | CA406373493 | ERCC2 | c.899A>T (p.Glu300Val) n.928A>T c.*157A>T (n.*157A>T) c.776A>T (p.Glu259Val) c.827A>T (p.Glu276Val) c.22A>T n.996A>T c.665A>T (p.Glu222Val) c.821A>T (p.Glu274Val) n.946A>T | |
| 19 | g.45364036T>C | CA406373496 | ERCC2 | c.899A>G (p.Glu300Gly) n.928A>G c.*157A>G (n.*157A>G) c.776A>G (p.Glu259Gly) c.827A>G (p.Glu276Gly) c.22A>G n.996A>G c.665A>G (p.Glu222Gly) c.821A>G (p.Glu274Gly) n.946A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.45364036T>G | CA406373492 | ERCC2 | c.899A>C (p.Glu300Ala) n.928A>C c.*157A>C (n.*157A>C) c.776A>C (p.Glu259Ala) c.827A>C (p.Glu276Ala) c.22A>C n.996A>C c.665A>C (p.Glu222Ala) c.821A>C (p.Glu274Ala) n.946A>C | |
| 19 | g.45364036T= | CA2338395709 | ERCC2 | c.899A= (p.Glu300=) n.928A= c.*157A= (n.*157A=) c.776A= (p.Glu259=) c.827A= (p.Glu276=) c.22A= n.996A= c.665A= (p.Glu222=) c.821A= (p.Glu274=) n.946A= | |
| 19 | g.45364037C>A | CA406373498 | ERCC2 | c.898G>T (p.Glu300Ter) n.927G>T c.*156G>T (n.*156G>T) c.775G>T (p.Glu259Ter) c.826G>T (p.Glu276Ter) c.21G>T n.995G>T c.664G>T (p.Glu222Ter) c.820G>T (p.Glu274Ter) n.945G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364037C= | CA2338395710 | ERCC2 | c.898G= (p.Glu300=) n.927G= c.*156G= (n.*156G=) c.775G= (p.Glu259=) c.826G= (p.Glu276=) c.21G= n.995G= c.664G= (p.Glu222=) c.820G= (p.Glu274=) n.945G= | |
| 19 | g.45364037C>G | CA9513585 | ERCC2 | c.898G>C (p.Glu300Gln) n.927G>C c.*156G>C (n.*156G>C) c.775G>C (p.Glu259Gln) c.826G>C (p.Glu276Gln) c.21G>C n.995G>C c.664G>C (p.Glu222Gln) c.820G>C (p.Glu274Gln) n.945G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364037C>T | CA406373499 | ERCC2 | c.898G>A (p.Glu300Lys) n.927G>A c.*156G>A (n.*156G>A) c.775G>A (p.Glu259Lys) c.826G>A (p.Glu276Lys) c.21G>A n.995G>A c.664G>A (p.Glu222Lys) c.820G>A (p.Glu274Lys) n.945G>A | |
| 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 | 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 | |
| 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 | 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 | 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 | 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 | |
| 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 | |
| 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 |