| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55191747_55191835delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG | CA1708922454 | EGFR | c.2498_2586delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu833=) c.*28+18819_*28+18907delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (n.*28+18819_*28+18907delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG) c.2363_2451delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu788=) c.2339_2427delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu780=) c.1697_1785delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu566=) | |
| 7 | g.55191753_55191840del | CA176020 | EGFR | c.2504_2591del (p.His835ArgfsTer?) c.*28+18825_*28+18912del (n.*28+18825_*28+18912del) c.2369_2456del (p.His790ArgfsTer?) c.2345_2432del (p.His782ArgfsTer?) c.1703_1790del (p.His568ArgfsTer?) | ClinVar dbSNP |
| 7 | g.55191821_55191822delinsAA | CA645561612 | EGFR | c.2572_2573delinsAA (p.Leu858Lys) c.*28+18893_*28+18894delinsAA (n.*28+18893_*28+18894delinsAA) c.2437_2438delinsAA (p.Leu813Lys) c.2413_2414delinsAA (p.Leu805Lys) c.1771_1772delinsAA (p.Leu591Lys) | COSMIC |
| 7 | g.55191821_55191822delinsAG | CA16602728 | EGFR | c.2572_2573delinsAG (p.Leu858Arg) c.*28+18893_*28+18894delinsAG (n.*28+18893_*28+18894delinsAG) c.2437_2438delinsAG (p.Leu813Arg) c.2413_2414delinsAG (p.Leu805Arg) c.1771_1772delinsAG (p.Leu591Arg) | ClinVar dbSNP COSMIC |
| 7 | g.55191821_55191822delinsCT | CA1708922610 | EGFR | c.2572_2573delinsCT (p.Leu858=) c.*28+18893_*28+18894delinsCT (n.*28+18893_*28+18894delinsCT) c.2437_2438delinsCT (p.Leu813=) c.2413_2414delinsCT (p.Leu805=) c.1771_1772delinsCT (p.Leu591=) | |
| 7 | g.55191822T>A | CA16602729 | EGFR | c.2573T>A (p.Leu858Gln) c.*28+18894T>A (n.*28+18894T>A) c.2438T>A (p.Leu813Gln) c.2414T>A (p.Leu805Gln) c.1772T>A (p.Leu591Gln) | ClinVar COSMIC |
| 7 | g.55191822T>C | CA367580277 | EGFR | c.2573T>C (p.Leu858Pro) c.*28+18894T>C (n.*28+18894T>C) c.2438T>C (p.Leu813Pro) c.2414T>C (p.Leu805Pro) c.1772T>C (p.Leu591Pro) | |
| 7 | g.55191822T>G | CA126713 | EGFR | c.2573T>G (p.Leu858Arg) c.*28+18894T>G (n.*28+18894T>G) c.2438T>G (p.Leu813Arg) c.2414T>G (p.Leu805Arg) c.1772T>G (p.Leu591Arg) | ClinVar dbSNP COSMIC |
| 7 | g.55191822T= | CA1708922630 | EGFR | c.2573T= (p.Leu858=) c.*28+18894T= (n.*28+18894T=) c.2438T= (p.Leu813=) c.2414T= (p.Leu805=) c.1772T= (p.Leu591=) | |
| 7 | g.55191822_55191823delinsGA | CA645561613 | EGFR | c.2573_2574delinsGA (p.Leu858Arg) c.*28+18894_*28+18895delinsGA (n.*28+18894_*28+18895delinsGA) c.2438_2439delinsGA (p.Leu813Arg) c.2414_2415delinsGA (p.Leu805Arg) c.1772_1773delinsGA (p.Leu591Arg) | COSMIC |
| 7 | g.55191822_55191823delinsGT | CA16602730 | EGFR | c.2573_2574delinsGT (p.Leu858Arg) c.*28+18894_*28+18895delinsGT (n.*28+18894_*28+18895delinsGT) c.2438_2439delinsGT (p.Leu813Arg) c.2414_2415delinsGT (p.Leu805Arg) c.1772_1773delinsGT (p.Leu591Arg) | ClinVar dbSNP COSMIC |
| 7 | g.55191822_55191823delinsTG | CA1708922627 | EGFR | c.2573_2574delinsTG (p.Leu858=) c.*28+18894_*28+18895delinsTG (n.*28+18894_*28+18895delinsTG) c.2438_2439delinsTG (p.Leu813=) c.2414_2415delinsTG (p.Leu805=) c.1772_1773delinsTG (p.Leu591=) | |
| 7 | g.55191823G>A | CA4266114 | EGFR | c.2574G>A (p.Leu858=) c.*28+18895G>A (n.*28+18895G>A) c.2439G>A (p.Leu813=) c.2415G>A (p.Leu805=) c.1773G>A (p.Leu591=) | dbSNP ExAC gnomAD COSMIC |
| 7 | g.55191823G>C | CA454965648 | EGFR | c.2574G>C (p.Leu858=) c.*28+18895G>C (n.*28+18895G>C) c.2439G>C (p.Leu813=) c.2415G>C (p.Leu805=) c.1773G>C (p.Leu591=) | |
| 7 | g.55191823G= | CA1708922635 | EGFR | c.2574G= (p.Leu858=) c.*28+18895G= (n.*28+18895G=) c.2439G= (p.Leu813=) c.2415G= (p.Leu805=) c.1773G= (p.Leu591=) | |
| 7 | g.55191823G>T | CA135936 | EGFR | c.2574G>T (p.Leu858=) c.*28+18895G>T (n.*28+18895G>T) c.2439G>T (p.Leu813=) c.2415G>T (p.Leu805=) c.1773G>T (p.Leu591=) | ClinVar dbSNP |
| 7 | g.55191824dup | CA645561614 | EGFR | c.2575dup (p.Ala859GlyfsTer?) c.*28+18896dup (n.*28+18896dup) c.2440dup (p.Ala814GlyfsTer?) c.2416dup (p.Ala806GlyfsTer?) c.1774dup (p.Ala592GlyfsTer?) | COSMIC |
| 7 | g.55191824G>A | CA367580278 | EGFR | c.2575G>A (p.Ala859Thr) c.*28+18896G>A (n.*28+18896G>A) c.2440G>A (p.Ala814Thr) c.2416G>A (p.Ala806Thr) c.1774G>A (p.Ala592Thr) | COSMIC |
| 7 | g.55191824G>C | CA367580279 | EGFR | c.2575G>C (p.Ala859Pro) c.*28+18896G>C (n.*28+18896G>C) c.2440G>C (p.Ala814Pro) c.2416G>C (p.Ala806Pro) c.1774G>C (p.Ala592Pro) | |
| 7 | g.55191824G>T | CA367580280 | EGFR | c.2575G>T (p.Ala859Ser) c.*28+18896G>T (n.*28+18896G>T) c.2440G>T (p.Ala814Ser) c.2416G>T (p.Ala806Ser) c.1774G>T (p.Ala592Ser) | ClinVar |
| 7 | g.55191824_55191825delinsGC | CA1708922644 | EGFR | c.2575_2576delinsGC (p.Ala859=) c.*28+18896_*28+18897delinsGC (n.*28+18896_*28+18897delinsGC) c.2440_2441delinsGC (p.Ala814=) c.2416_2417delinsGC (p.Ala806=) c.1774_1775delinsGC (p.Ala592=) | |
| 7 | g.55191825C>A | CA367580281 | EGFR | c.2576C>A (p.Ala859Asp) c.*28+18897C>A (n.*28+18897C>A) c.2441C>A (p.Ala814Asp) c.2417C>A (p.Ala806Asp) c.1775C>A (p.Ala592Asp) | COSMIC |
| 7 | g.55191825C= | CA1708922648 | EGFR | c.2576C= (p.Ala859=) c.*28+18897C= (n.*28+18897C=) c.2441C= (p.Ala814=) c.2417C= (p.Ala806=) c.1775C= (p.Ala592=) | |
| 7 | g.55191825C>G | CA367580282 | EGFR | c.2576C>G (p.Ala859Gly) c.*28+18897C>G (n.*28+18897C>G) c.2441C>G (p.Ala814Gly) c.2417C>G (p.Ala806Gly) c.1775C>G (p.Ala592Gly) | |
| 7 | g.55191825C>T | CA4266115 | EGFR | c.2576C>T (p.Ala859Val) c.*28+18897C>T (n.*28+18897C>T) c.2441C>T (p.Ala814Val) c.2417C>T (p.Ala806Val) c.1775C>T (p.Ala592Val) | dbSNP ExAC gnomAD COSMIC |
| 7 | g.55191826del | CA1708922646 | EGFR | c.2577del (p.Lys860AsnfsTer?) c.*28+18898del (n.*28+18898del) c.2442del (p.Lys815AsnfsTer?) c.2418del (p.Lys807AsnfsTer?) c.1776del (p.Lys593AsnfsTer?) | ClinVar dbSNP |
| 7 | g.55191825_55191826insG | CA454965649 | EGFR | c.2576_2577insG (p.Lys860GlnfsTer?) c.*28+18897_*28+18898insG (n.*28+18897_*28+18898insG) c.2441_2442insG (p.Lys815GlnfsTer?) c.2417_2418insG (p.Lys807GlnfsTer?) c.1775_1776insG (p.Lys593GlnfsTer?) | |
| 7 | g.55191826C>A | CA158934264 | EGFR | c.2577C>A (p.Ala859=) c.*28+18898C>A (n.*28+18898C>A) c.2442C>A (p.Ala814=) c.2418C>A (p.Ala806=) c.1776C>A (p.Ala592=) | dbSNP |
| 7 | g.55191826C= | CA1708922650 | EGFR | c.2577C= (p.Ala859=) c.*28+18898C= (n.*28+18898C=) c.2442C= (p.Ala814=) c.2418C= (p.Ala806=) c.1776C= (p.Ala592=) | |
| 7 | g.55191826C>G | CA454965650 | EGFR | c.2577C>G (p.Ala859=) c.*28+18898C>G (n.*28+18898C>G) c.2442C>G (p.Ala814=) c.2418C>G (p.Ala806=) c.1776C>G (p.Ala592=) | |
| 7 | g.55191826C>T | CA454965651 | EGFR | c.2577C>T (p.Ala859=) c.*28+18898C>T (n.*28+18898C>T) c.2442C>T (p.Ala814=) c.2418C>T (p.Ala806=) c.1776C>T (p.Ala592=) | |
| 7 | g.55191827A>C | CA367580283 | EGFR | c.2578A>C (p.Lys860Gln) c.*28+18899A>C (n.*28+18899A>C) c.2443A>C (p.Lys815Gln) c.2419A>C (p.Lys807Gln) c.1777A>C (p.Lys593Gln) | |
| 7 | g.55191827A>G | CA367580284 | EGFR | c.2578A>G (p.Lys860Glu) c.*28+18899A>G (n.*28+18899A>G) c.2443A>G (p.Lys815Glu) c.2419A>G (p.Lys807Glu) c.1777A>G (p.Lys593Glu) | |
| 7 | g.55191827A>T | CA367580285 | EGFR | c.2578A>T (p.Lys860Ter) c.*28+18899A>T (n.*28+18899A>T) c.2443A>T (p.Lys815Ter) c.2419A>T (p.Lys807Ter) c.1777A>T (p.Lys593Ter) | |
| 7 | g.55191828A>C | CA367580286 | EGFR | c.2579A>C (p.Lys860Thr) c.*28+18900A>C (n.*28+18900A>C) c.2444A>C (p.Lys815Thr) c.2420A>C (p.Lys807Thr) c.1778A>C (p.Lys593Thr) | |
| 7 | g.55191828A>G | CA367580287 | EGFR | c.2579A>G (p.Lys860Arg) c.*28+18900A>G (n.*28+18900A>G) c.2444A>G (p.Lys815Arg) c.2420A>G (p.Lys807Arg) c.1778A>G (p.Lys593Arg) | |
| 7 | g.55191828A>T | CA367580288 | EGFR | c.2579A>T (p.Lys860Ile) c.*28+18900A>T (n.*28+18900A>T) c.2444A>T (p.Lys815Ile) c.2420A>T (p.Lys807Ile) c.1778A>T (p.Lys593Ile) | COSMIC |
| 7 | g.55191829A= | CA1708922653 | EGFR | c.2580A= (p.Lys860=) c.*28+18901A= (n.*28+18901A=) c.2445A= (p.Lys815=) c.2421A= (p.Lys807=) c.1779A= (p.Lys593=) | |
| 7 | g.55191829A>C | CA367580289 | EGFR | c.2580A>C (p.Lys860Asn) c.*28+18901A>C (n.*28+18901A>C) c.2445A>C (p.Lys815Asn) c.2421A>C (p.Lys807Asn) c.1779A>C (p.Lys593Asn) | |
| 7 | g.55191829A>G | CA454965652 | EGFR | c.2580A>G (p.Lys860=) c.*28+18901A>G (n.*28+18901A>G) c.2445A>G (p.Lys815=) c.2421A>G (p.Lys807=) c.1779A>G (p.Lys593=) | ClinVar |
| 7 | g.55191829A>T | CA135937 | EGFR | c.2580A>T (p.Lys860Asn) c.*28+18901A>T (n.*28+18901A>T) c.2445A>T (p.Lys815Asn) c.2421A>T (p.Lys807Asn) c.1779A>T (p.Lys593Asn) | ClinVar dbSNP |
| 7 | g.55191830C>A | CA367580290 | EGFR | c.2581C>A (p.Leu861Met) c.*28+18902C>A (n.*28+18902C>A) c.2446C>A (p.Leu816Met) c.2422C>A (p.Leu808Met) c.1780C>A (p.Leu594Met) | |
| 7 | g.55191830C>G | CA367580291 | EGFR | c.2581C>G (p.Leu861Val) c.*28+18902C>G (n.*28+18902C>G) c.2446C>G (p.Leu816Val) c.2422C>G (p.Leu808Val) c.1780C>G (p.Leu594Val) | COSMIC |
| 7 | g.55191830C>T | CA454965653 | EGFR | c.2581C>T (p.Leu861=) c.*28+18902C>T (n.*28+18902C>T) c.2446C>T (p.Leu816=) c.2422C>T (p.Leu808=) c.1780C>T (p.Leu594=) | COSMIC |
| 7 | g.55191831T>A | CA176021 | EGFR | c.2582T>A (p.Leu861Gln) c.*28+18903T>A (n.*28+18903T>A) c.2447T>A (p.Leu816Gln) c.2423T>A (p.Leu808Gln) c.1781T>A (p.Leu594Gln) | ClinVar dbSNP COSMIC |
| 7 | g.55191831T>C | CA16602602 | EGFR | c.2582T>C (p.Leu861Pro) c.*28+18903T>C (n.*28+18903T>C) c.2447T>C (p.Leu816Pro) c.2423T>C (p.Leu808Pro) c.1781T>C (p.Leu594Pro) | ClinVar |
| 7 | g.55191831T>G | CA135940 | EGFR | c.2582T>G (p.Leu861Arg) c.*28+18903T>G (n.*28+18903T>G) c.2447T>G (p.Leu816Arg) c.2423T>G (p.Leu808Arg) c.1781T>G (p.Leu594Arg) | ClinVar dbSNP COSMIC |
| 7 | g.55191831T= | CA1708922660 | EGFR | c.2582T= (p.Leu861=) c.*28+18903T= (n.*28+18903T=) c.2447T= (p.Leu816=) c.2423T= (p.Leu808=) c.1781T= (p.Leu594=) | |
| 7 | g.55191832G>A | CA454965654 | EGFR | c.2583G>A (p.Leu861=) c.*28+18904G>A (n.*28+18904G>A) c.2448G>A (p.Leu816=) c.2424G>A (p.Leu808=) c.1782G>A (p.Leu594=) | ClinVar gnomAD |
| 7 | g.55191832G>C | CA454965655 | EGFR | c.2583G>C (p.Leu861=) c.*28+18904G>C (n.*28+18904G>C) c.2448G>C (p.Leu816=) c.2424G>C (p.Leu808=) c.1782G>C (p.Leu594=) |