Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55191747_55191835delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG | CA1708922454 | EGFR | c.2339_2427delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu780=) c.847_899+36delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG c.2498_2586delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu833=) c.*28+18819_*28+18907delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (n.*28+18819_*28+18907delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG) c.2363_2451delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu788=) c.1697_1785delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu566=) | |
7 | g.55191753_55191840del | CA176020 | EGFR | c.2345_2432del (p.His782ArgfsTer?) c.853_899+41del c.2504_2591del (p.His835ArgfsTer?) c.*28+18825_*28+18912del (n.*28+18825_*28+18912del) c.2369_2456del (p.His790ArgfsTer?) c.1703_1790del (p.His568ArgfsTer?) | ClinVar dbSNP |
7 | g.55191753A= | CA1708922475 | EGFR | c.2345A= (p.His782=) c.853A= c.2504A= (p.His835=) c.*28+18825A= (n.*28+18825A=) c.2369A= (p.His790=) c.1703A= (p.His568=) | |
7 | g.55191753A>C | CA367580133 | EGFR | c.2345A>C (p.His782Pro) c.853A>C c.2504A>C (p.His835Pro) c.*28+18825A>C (n.*28+18825A>C) c.2369A>C (p.His790Pro) c.1703A>C (p.His568Pro) | dbSNP |
7 | g.55191753A>G | CA367580134 | EGFR | c.2345A>G (p.His782Arg) c.853A>G c.2504A>G (p.His835Arg) c.*28+18825A>G (n.*28+18825A>G) c.2369A>G (p.His790Arg) c.1703A>G (p.His568Arg) | dbSNP |
7 | g.55191753A>T | CA135921 | EGFR | c.2345A>T (p.His782Leu) c.853A>T c.2504A>T (p.His835Leu) c.*28+18825A>T (n.*28+18825A>T) c.2369A>T (p.His790Leu) c.1703A>T (p.His568Leu) | ClinVar dbSNP COSMIC |
7 | g.55191754C>A | CA367580135 | EGFR | c.2346C>A (p.His782Gln) c.854C>A c.2505C>A (p.His835Gln) c.*28+18826C>A (n.*28+18826C>A) c.2370C>A (p.His790Gln) c.1704C>A (p.His568Gln) | dbSNP |
7 | g.55191754C>G | CA367580136 | EGFR | c.2346C>G (p.His782Gln) c.854C>G c.2505C>G (p.His835Gln) c.*28+18826C>G (n.*28+18826C>G) c.2370C>G (p.His790Gln) c.1704C>G (p.His568Gln) | dbSNP |
7 | g.55191754C>T | CA454965597 | EGFR | c.2346C>T (p.His782=) c.854C>T c.2505C>T (p.His835=) c.*28+18826C>T (n.*28+18826C>T) c.2370C>T (p.His790=) c.1704C>T (p.His568=) | dbSNP COSMIC |
7 | g.55191755C>A | CA367580137 | EGFR | c.2347C>A (p.Arg783Ser) c.855C>A c.2506C>A (p.Arg836Ser) c.*28+18827C>A (n.*28+18827C>A) c.2371C>A (p.Arg791Ser) c.1705C>A (p.Arg569Ser) | dbSNP COSMIC |
7 | g.55191755C= | CA1708922481 | EGFR | c.2347C= (p.Arg783=) c.855C= c.2506C= (p.Arg836=) c.*28+18827C= (n.*28+18827C=) c.2371C= (p.Arg791=) c.1705C= (p.Arg569=) | |
7 | g.55191755C>G | CA367580138 | EGFR | c.2347C>G (p.Arg783Gly) c.855C>G c.2506C>G (p.Arg836Gly) c.*28+18827C>G (n.*28+18827C>G) c.2371C>G (p.Arg791Gly) c.1705C>G (p.Arg569Gly) | dbSNP |
7 | g.55191755C>T | CA4266107 | EGFR | c.2347C>T (p.Arg783Cys) c.855C>T c.2506C>T (p.Arg836Cys) c.*28+18827C>T (n.*28+18827C>T) c.2371C>T (p.Arg791Cys) c.1705C>T (p.Arg569Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55191756G>A | CA4266108 | EGFR | c.2348G>A (p.Arg783His) c.856G>A c.2507G>A (p.Arg836His) c.*28+18828G>A (n.*28+18828G>A) c.2372G>A (p.Arg791His) c.1706G>A (p.Arg569His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55191756G>C | CA367580139 | EGFR | c.2348G>C (p.Arg783Pro) c.856G>C c.2507G>C (p.Arg836Pro) c.*28+18828G>C (n.*28+18828G>C) c.2372G>C (p.Arg791Pro) c.1706G>C (p.Arg569Pro) | dbSNP |
7 | g.55191756G= | CA1708922490 | EGFR | c.2348G= (p.Arg783=) c.856G= c.2507G= (p.Arg836=) c.*28+18828G= (n.*28+18828G=) c.2372G= (p.Arg791=) c.1706G= (p.Arg569=) | |
7 | g.55191756G>T | CA367580140 | EGFR | c.2348G>T (p.Arg783Leu) c.856G>T c.2507G>T (p.Arg836Leu) c.*28+18828G>T (n.*28+18828G>T) c.2372G>T (p.Arg791Leu) c.1706G>T (p.Arg569Leu) | |
7 | g.55191757C>A | CA454965598 | EGFR | c.2349C>A (p.Arg783=) c.857C>A c.2508C>A (p.Arg836=) c.*28+18829C>A (n.*28+18829C>A) c.2373C>A (p.Arg791=) c.1707C>A (p.Arg569=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55191757C= | CA1708922501 | EGFR | c.2349C= (p.Arg783=) c.857C= c.2508C= (p.Arg836=) c.*28+18829C= (n.*28+18829C=) c.2373C= (p.Arg791=) c.1707C= (p.Arg569=) | |
7 | g.55191757C>G | CA4266109 | EGFR | c.2349C>G (p.Arg783=) c.857C>G c.2508C>G (p.Arg836=) c.*28+18829C>G (n.*28+18829C>G) c.2373C>G (p.Arg791=) c.1707C>G (p.Arg569=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55191757C>T | CA135924 | EGFR | c.2349C>T (p.Arg783=) c.857C>T c.2508C>T (p.Arg836=) c.*28+18829C>T (n.*28+18829C>T) c.2373C>T (p.Arg791=) c.1707C>T (p.Arg569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55191758G>A | CA4266110 | EGFR | c.2350G>A (p.Asp784Asn) c.858G>A c.2509G>A (p.Asp837Asn) c.*28+18830G>A (n.*28+18830G>A) c.2374G>A (p.Asp792Asn) c.1708G>A (p.Asp570Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55191758G>C | CA367580142 | EGFR | c.2350G>C (p.Asp784His) c.858G>C c.2509G>C (p.Asp837His) c.*28+18830G>C (n.*28+18830G>C) c.2374G>C (p.Asp792His) c.1708G>C (p.Asp570His) | dbSNP |
7 | g.55191758G= | CA1708922508 | EGFR | c.2350G= (p.Asp784=) c.858G= c.2509G= (p.Asp837=) c.*28+18830G= (n.*28+18830G=) c.2374G= (p.Asp792=) c.1708G= (p.Asp570=) | |
7 | g.55191758G>T | CA367580141 | EGFR | c.2350G>T (p.Asp784Tyr) c.858G>T c.2509G>T (p.Asp837Tyr) c.*28+18830G>T (n.*28+18830G>T) c.2374G>T (p.Asp792Tyr) c.1708G>T (p.Asp570Tyr) | dbSNP gnomAD v4 |
7 | g.55191759A= | CA1708922512 | EGFR | c.2351A= (p.Asp784=) c.859A= c.2510A= (p.Asp837=) c.*28+18831A= (n.*28+18831A=) c.2375A= (p.Asp792=) c.1709A= (p.Asp570=) | |
7 | g.55191759A>C | CA367580143 | EGFR | c.2351A>C (p.Asp784Ala) c.859A>C c.2510A>C (p.Asp837Ala) c.*28+18831A>C (n.*28+18831A>C) c.2375A>C (p.Asp792Ala) c.1709A>C (p.Asp570Ala) | dbSNP |
7 | g.55191759A>G | CA367580144 | EGFR | c.2351A>G (p.Asp784Gly) c.859A>G c.2510A>G (p.Asp837Gly) c.*28+18831A>G (n.*28+18831A>G) c.2375A>G (p.Asp792Gly) c.1709A>G (p.Asp570Gly) | dbSNP COSMIC |
7 | g.55191759A>T | CA367580145 | EGFR | c.2351A>T (p.Asp784Val) c.859A>T c.2510A>T (p.Asp837Val) c.*28+18831A>T (n.*28+18831A>T) c.2375A>T (p.Asp792Val) c.1709A>T (p.Asp570Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.55191760C>A | CA367580146 | EGFR | c.2352C>A (p.Asp784Glu) c.860C>A c.2511C>A (p.Asp837Glu) c.*28+18832C>A (n.*28+18832C>A) c.2376C>A (p.Asp792Glu) c.1710C>A (p.Asp570Glu) | |
7 | g.55191760C>G | CA367580147 | EGFR | c.2352C>G (p.Asp784Glu) c.860C>G c.2511C>G (p.Asp837Glu) c.*28+18832C>G (n.*28+18832C>G) c.2376C>G (p.Asp792Glu) c.1710C>G (p.Asp570Glu) | dbSNP |
7 | g.55191760C>T | CA454965599 | EGFR | c.2352C>T (p.Asp784=) c.860C>T c.2511C>T (p.Asp837=) c.*28+18832C>T (n.*28+18832C>T) c.2376C>T (p.Asp792=) c.1710C>T (p.Asp570=) | ClinVar dbSNP gnomAD v4 |
7 | g.55191761C>A | CA367580148 | EGFR | c.2353C>A (p.Leu785Met) c.861C>A c.2512C>A (p.Leu838Met) c.*28+18833C>A (n.*28+18833C>A) c.2377C>A (p.Leu793Met) c.1711C>A (p.Leu571Met) | dbSNP COSMIC |
7 | g.55191761C= | CA1708922520 | EGFR | c.2353C= (p.Leu785=) c.861C= c.2512C= (p.Leu838=) c.*28+18833C= (n.*28+18833C=) c.2377C= (p.Leu793=) c.1711C= (p.Leu571=) | |
7 | g.55191761C>G | CA350916 | EGFR | c.2353C>G (p.Leu785Val) c.861C>G c.2512C>G (p.Leu838Val) c.*28+18833C>G (n.*28+18833C>G) c.2377C>G (p.Leu793Val) c.1711C>G (p.Leu571Val) | ClinVar dbSNP COSMIC |
7 | g.55191761C>T | CA454965600 | EGFR | c.2353C>T (p.Leu785=) c.861C>T c.2512C>T (p.Leu838=) c.*28+18833C>T (n.*28+18833C>T) c.2377C>T (p.Leu793=) c.1711C>T (p.Leu571=) | dbSNP |
7 | g.55191762T>A | CA367580149 | EGFR | c.2354T>A (p.Leu785Gln) c.862T>A c.2513T>A (p.Leu838Gln) c.*28+18834T>A (n.*28+18834T>A) c.2378T>A (p.Leu793Gln) c.1712T>A (p.Leu571Gln) | |
7 | g.55191762T>C | CA367580150 | EGFR | c.2354T>C (p.Leu785Pro) c.862T>C c.2513T>C (p.Leu838Pro) c.*28+18834T>C (n.*28+18834T>C) c.2378T>C (p.Leu793Pro) c.1712T>C (p.Leu571Pro) | COSMIC |
7 | g.55191762T>G | CA367580151 | EGFR | c.2354T>G (p.Leu785Arg) c.862T>G c.2513T>G (p.Leu838Arg) c.*28+18834T>G (n.*28+18834T>G) c.2378T>G (p.Leu793Arg) c.1712T>G (p.Leu571Arg) | |
7 | g.55191763G>A | CA454965601 | EGFR | c.2355G>A (p.Leu785=) c.863G>A c.2514G>A (p.Leu838=) c.*28+18835G>A (n.*28+18835G>A) c.2379G>A (p.Leu793=) c.1713G>A (p.Leu571=) | dbSNP |
7 | g.55191763G>C | CA454965602 | EGFR | c.2355G>C (p.Leu785=) c.863G>C c.2514G>C (p.Leu838=) c.*28+18835G>C (n.*28+18835G>C) c.2379G>C (p.Leu793=) c.1713G>C (p.Leu571=) | dbSNP |
7 | g.55191763G>T | CA454965604 | EGFR | c.2355G>T (p.Leu785=) c.863G>T c.2514G>T (p.Leu838=) c.*28+18835G>T (n.*28+18835G>T) c.2379G>T (p.Leu793=) c.1713G>T (p.Leu571=) | gnomAD v4 |
7 | g.55191764G>A | CA367580152 | EGFR | c.2356G>A (p.Ala786Thr) c.864G>A c.2515G>A (p.Ala839Thr) c.*28+18836G>A (n.*28+18836G>A) c.2380G>A (p.Ala794Thr) c.1714G>A (p.Ala572Thr) | dbSNP COSMIC |
7 | g.55191764G>C | CA367580153 | EGFR | c.2356G>C (p.Ala786Pro) c.864G>C c.2515G>C (p.Ala839Pro) c.*28+18836G>C (n.*28+18836G>C) c.2380G>C (p.Ala794Pro) c.1714G>C (p.Ala572Pro) | dbSNP |
7 | g.55191764G>T | CA367580154 | EGFR | c.2356G>T (p.Ala786Ser) c.864G>T c.2515G>T (p.Ala839Ser) c.*28+18836G>T (n.*28+18836G>T) c.2380G>T (p.Ala794Ser) c.1714G>T (p.Ala572Ser) | dbSNP |
7 | g.55191765C>A | CA367580155 | EGFR | c.2357C>A (p.Ala786Glu) c.865C>A c.2516C>A (p.Ala839Glu) c.*28+18837C>A (n.*28+18837C>A) c.2381C>A (p.Ala794Glu) c.1715C>A (p.Ala572Glu) | |
7 | g.55191765C>G | CA367580157 | EGFR | c.2357C>G (p.Ala786Gly) c.865C>G c.2516C>G (p.Ala839Gly) c.*28+18837C>G (n.*28+18837C>G) c.2381C>G (p.Ala794Gly) c.1715C>G (p.Ala572Gly) | dbSNP |
7 | g.55191765C>T | CA367580156 | EGFR | c.2357C>T (p.Ala786Val) c.865C>T c.2516C>T (p.Ala839Val) c.*28+18837C>T (n.*28+18837C>T) c.2381C>T (p.Ala794Val) c.1715C>T (p.Ala572Val) | dbSNP COSMIC |
7 | g.55191766A>C | CA454965605 | EGFR | c.2358A>C (p.Ala786=) c.866A>C c.2517A>C (p.Ala839=) c.*28+18838A>C (n.*28+18838A>C) c.2382A>C (p.Ala794=) c.1716A>C (p.Ala572=) | gnomAD v4 |
7 | g.55191766A>G | CA454965607 | EGFR | c.2358A>G (p.Ala786=) c.866A>G c.2517A>G (p.Ala839=) c.*28+18838A>G (n.*28+18838A>G) c.2382A>G (p.Ala794=) c.1716A>G (p.Ala572=) |