| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55191747_55191748delinsTG | CA1708922456 | EGFR | c.2339_2340delinsTG (p.Leu780=) c.847_848delinsTG c.2498_2499delinsTG (p.Leu833=) c.*28+18819_*28+18820delinsTG (n.*28+18819_*28+18820delinsTG) c.2363_2364delinsTG (p.Leu788=) c.1697_1698delinsTG (p.Leu566=) | |
| 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.55191748G>A | CA454965593 | EGFR | c.2340G>A (p.Leu780=) c.848G>A c.2499G>A (p.Leu833=) c.*28+18820G>A (n.*28+18820G>A) c.2364G>A (p.Leu788=) c.1698G>A (p.Leu566=) | dbSNP |
| 7 | g.55191748G>C | CA367580124 | EGFR | c.2340G>C (p.Leu780Phe) c.848G>C c.2499G>C (p.Leu833Phe) c.*28+18820G>C (n.*28+18820G>C) c.2364G>C (p.Leu788Phe) c.1698G>C (p.Leu566Phe) | dbSNP |
| 7 | g.55191748G>T | CA367580125 | EGFR | c.2340G>T (p.Leu780Phe) c.848G>T c.2499G>T (p.Leu833Phe) c.*28+18820G>T (n.*28+18820G>T) c.2364G>T (p.Leu788Phe) c.1698G>T (p.Leu566Phe) | ClinVar dbSNP COSMIC |
| 7 | g.55191748_55191749delinsTT | CA891842020 | EGFR | c.2340_2341delinsTT (p.Leu780_Val781delinsPheLeu) c.848_849delinsTT c.2499_2500delinsTT (p.Leu833_Val834delinsPheLeu) c.*28+18820_*28+18821delinsTT (n.*28+18820_*28+18821delinsTT) c.2364_2365delinsTT (p.Leu788_Val789delinsPheLeu) c.1698_1699delinsTT (p.Leu566_Val567delinsPheLeu) | |
| 7 | g.55191749dup | CA2840220846 | EGFR | c.2341dup (p.Val781GlyfsTer?) c.849dup c.2500dup (p.Val834GlyfsTer?) c.*28+18821dup (n.*28+18821dup) c.2365dup (p.Val789GlyfsTer?) c.1699dup (p.Val567GlyfsTer?) | |
| 7 | g.55191749del | CA1708922465 | EGFR | c.2341del (p.Val781CysfsTer12) c.849del c.2500del (p.Val834CysfsTer12) c.*28+18821del (n.*28+18821del) c.2365del (p.Val789CysfsTer12) c.1699del (p.Val567CysfsTer12) | dbSNP |
| 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.55191749G>A | CA367580126 | EGFR | c.2341G>A (p.Val781Met) c.849G>A c.2500G>A (p.Val834Met) c.*28+18821G>A (n.*28+18821G>A) c.2365G>A (p.Val789Met) c.1699G>A (p.Val567Met) | dbSNP COSMIC |
| 7 | g.55191749G>C | CA135917 | EGFR | c.2341G>C (p.Val781Leu) c.849G>C c.2500G>C (p.Val834Leu) c.*28+18821G>C (n.*28+18821G>C) c.2365G>C (p.Val789Leu) c.1699G>C (p.Val567Leu) | ClinVar dbSNP |
| 7 | g.55191749G= | CA1708922471 | EGFR | c.2341G= (p.Val781=) c.849G= c.2500G= (p.Val834=) c.*28+18821G= (n.*28+18821G=) c.2365G= (p.Val789=) c.1699G= (p.Val567=) | |
| 7 | g.55191749G>T | CA135920 | EGFR | c.2341G>T (p.Val781Leu) c.849G>T c.2500G>T (p.Val834Leu) c.*28+18821G>T (n.*28+18821G>T) c.2365G>T (p.Val789Leu) c.1699G>T (p.Val567Leu) | ClinVar dbSNP COSMIC |
| 7 | g.55191749_55191751delinsATT | CA2573051279 | EGFR | c.2341_2343delinsATT (p.Val781Ile) c.849_851delinsATT c.2500_2502delinsATT (p.Val834Ile) c.*28+18821_*28+18823delinsATT (n.*28+18821_*28+18823delinsATT) c.2365_2367delinsATT (p.Val789Ile) c.1699_1701delinsATT (p.Val567Ile) | |
| 7 | g.55191750T>A | CA367580127 | EGFR | c.2342T>A (p.Val781Glu) c.850T>A c.2501T>A (p.Val834Glu) c.*28+18822T>A (n.*28+18822T>A) c.2366T>A (p.Val789Glu) c.1700T>A (p.Val567Glu) | dbSNP |
| 7 | g.55191750T>C | CA367580128 | EGFR | c.2342T>C (p.Val781Ala) c.850T>C c.2501T>C (p.Val834Ala) c.*28+18822T>C (n.*28+18822T>C) c.2366T>C (p.Val789Ala) c.1700T>C (p.Val567Ala) | dbSNP COSMIC |
| 7 | g.55191750T>G | CA367580129 | EGFR | c.2342T>G (p.Val781Gly) c.850T>G c.2501T>G (p.Val834Gly) c.*28+18822T>G (n.*28+18822T>G) c.2366T>G (p.Val789Gly) c.1700T>G (p.Val567Gly) | dbSNP |
| 7 | g.55191751G>A | CA454965594 | EGFR | c.2343G>A (p.Val781=) c.851G>A c.2502G>A (p.Val834=) c.*28+18823G>A (n.*28+18823G>A) c.2367G>A (p.Val789=) c.1701G>A (p.Val567=) | dbSNP |
| 7 | g.55191751G>C | CA454965595 | EGFR | c.2343G>C (p.Val781=) c.851G>C c.2502G>C (p.Val834=) c.*28+18823G>C (n.*28+18823G>C) c.2367G>C (p.Val789=) c.1701G>C (p.Val567=) | dbSNP |
| 7 | g.55191751G>T | CA454965596 | EGFR | c.2343G>T (p.Val781=) c.851G>T c.2502G>T (p.Val834=) c.*28+18823G>T (n.*28+18823G>T) c.2367G>T (p.Val789=) c.1701G>T (p.Val567=) | gnomAD v4 |
| 7 | g.55191752C>A | CA367580132 | EGFR | c.2344C>A (p.His782Asn) c.852C>A c.2503C>A (p.His835Asn) c.*28+18824C>A (n.*28+18824C>A) c.2368C>A (p.His790Asn) c.1702C>A (p.His568Asn) | dbSNP |
| 7 | g.55191752C>G | CA367580130 | EGFR | c.2344C>G (p.His782Asp) c.852C>G c.2503C>G (p.His835Asp) c.*28+18824C>G (n.*28+18824C>G) c.2368C>G (p.His790Asp) c.1702C>G (p.His568Asp) | dbSNP |
| 7 | g.55191752C>T | CA367580131 | EGFR | c.2344C>T (p.His782Tyr) c.852C>T c.2503C>T (p.His835Tyr) c.*28+18824C>T (n.*28+18824C>T) c.2368C>T (p.His790Tyr) c.1702C>T (p.His568Tyr) | 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 |