| 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.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=) | |
| 7 | g.55191766A>T | CA454965606 | EGFR | c.2358A>T (p.Ala786=) c.866A>T c.2517A>T (p.Ala839=) c.*28+18838A>T (n.*28+18838A>T) c.2382A>T (p.Ala794=) c.1716A>T (p.Ala572=) | dbSNP |
| 7 | g.55191767G>A | CA4266111 | EGFR | c.2359G>A (p.Ala787Thr) c.867G>A c.2518G>A (p.Ala840Thr) c.*28+18839G>A (n.*28+18839G>A) c.2383G>A (p.Ala795Thr) c.1717G>A (p.Ala573Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191767G>C | CA367580158 | EGFR | c.2359G>C (p.Ala787Pro) c.867G>C c.2518G>C (p.Ala840Pro) c.*28+18839G>C (n.*28+18839G>C) c.2383G>C (p.Ala795Pro) c.1717G>C (p.Ala573Pro) | |
| 7 | g.55191767G= | CA1708922525 | EGFR | c.2359G= (p.Ala787=) c.867G= c.2518G= (p.Ala840=) c.*28+18839G= (n.*28+18839G=) c.2383G= (p.Ala795=) c.1717G= (p.Ala573=) | |
| 7 | g.55191767G>T | CA367580159 | EGFR | c.2359G>T (p.Ala787Ser) c.867G>T c.2518G>T (p.Ala840Ser) c.*28+18839G>T (n.*28+18839G>T) c.2383G>T (p.Ala795Ser) c.1717G>T (p.Ala573Ser) | |
| 7 | g.55191768C>A | CA367580160 | EGFR | c.2360C>A (p.Ala787Asp) c.868C>A c.2519C>A (p.Ala840Asp) c.*28+18840C>A (n.*28+18840C>A) c.2384C>A (p.Ala795Asp) c.1718C>A (p.Ala573Asp) | dbSNP |
| 7 | g.55191768C>G | CA367580161 | EGFR | c.2360C>G (p.Ala787Gly) c.868C>G c.2519C>G (p.Ala840Gly) c.*28+18840C>G (n.*28+18840C>G) c.2384C>G (p.Ala795Gly) c.1718C>G (p.Ala573Gly) | dbSNP gnomAD v4 |
| 7 | g.55191768C>T | CA367580162 | EGFR | c.2360C>T (p.Ala787Val) c.868C>T c.2519C>T (p.Ala840Val) c.*28+18840C>T (n.*28+18840C>T) c.2384C>T (p.Ala795Val) c.1718C>T (p.Ala573Val) | dbSNP |
| 7 | g.55191769C>A | CA454965608 | EGFR | c.2361C>A (p.Ala787=) c.869C>A c.2520C>A (p.Ala840=) c.*28+18841C>A (n.*28+18841C>A) c.2385C>A (p.Ala795=) c.1719C>A (p.Ala573=) | |
| 7 | g.55191769C>G | CA454965609 | EGFR | c.2361C>G (p.Ala787=) c.869C>G c.2520C>G (p.Ala840=) c.*28+18841C>G (n.*28+18841C>G) c.2385C>G (p.Ala795=) c.1719C>G (p.Ala573=) | dbSNP |
| 7 | g.55191769C>T | CA454965610 | EGFR | c.2361C>T (p.Ala787=) c.869C>T c.2520C>T (p.Ala840=) c.*28+18841C>T (n.*28+18841C>T) c.2385C>T (p.Ala795=) c.1719C>T (p.Ala573=) | dbSNP COSMIC |
| 7 | g.55191770A>C | CA454965611 | EGFR | c.2362A>C (p.Arg788=) c.870A>C c.2521A>C (p.Arg841=) c.*28+18842A>C (n.*28+18842A>C) c.2386A>C (p.Arg796=) c.1720A>C (p.Arg574=) | |
| 7 | g.55191770A>G | CA367580163 | EGFR | c.2362A>G (p.Arg788Gly) c.870A>G c.2521A>G (p.Arg841Gly) c.*28+18842A>G (n.*28+18842A>G) c.2386A>G (p.Arg796Gly) c.1720A>G (p.Arg574Gly) | |
| 7 | g.55191770A>T | CA367580164 | EGFR | c.2362A>T (p.Arg788Trp) c.870A>T c.2521A>T (p.Arg841Trp) c.*28+18842A>T (n.*28+18842A>T) c.2386A>T (p.Arg796Trp) c.1720A>T (p.Arg574Trp) | dbSNP |
| 7 | g.55191771G>A | CA367580165 | EGFR | c.2363G>A (p.Arg788Lys) c.871G>A c.2522G>A (p.Arg841Lys) c.*28+18843G>A (n.*28+18843G>A) c.2387G>A (p.Arg796Lys) c.1721G>A (p.Arg574Lys) | COSMIC |
| 7 | g.55191771G>C | CA367580166 | EGFR | c.2363G>C (p.Arg788Thr) c.871G>C c.2522G>C (p.Arg841Thr) c.*28+18843G>C (n.*28+18843G>C) c.2387G>C (p.Arg796Thr) c.1721G>C (p.Arg574Thr) | |
| 7 | g.55191771G>T | CA367580167 | EGFR | c.2363G>T (p.Arg788Met) c.871G>T c.2522G>T (p.Arg841Met) c.*28+18843G>T (n.*28+18843G>T) c.2387G>T (p.Arg796Met) c.1721G>T (p.Arg574Met) | |
| 7 | g.55191772G>A | CA454965612 | EGFR | c.2364G>A (p.Arg788=) c.872G>A c.2523G>A (p.Arg841=) c.*28+18844G>A (n.*28+18844G>A) c.2388G>A (p.Arg796=) c.1722G>A (p.Arg574=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191772G>C | CA4266112 | EGFR | c.2364G>C (p.Arg788Ser) c.872G>C c.2523G>C (p.Arg841Ser) c.*28+18844G>C (n.*28+18844G>C) c.2388G>C (p.Arg796Ser) c.1722G>C (p.Arg574Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |