| 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.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 v2 gnomAD v3 gnomAD v4 |
| 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=) | gnomAD v4 |
| 7 | g.55191832G= | CA1708922671 | EGFR | c.2583G= (p.Leu861=) c.*28+18904G= (n.*28+18904G=) c.2448G= (p.Leu816=) c.2424G= (p.Leu808=) c.1782G= (p.Leu594=) | |
| 7 | g.55191832G>T | CA454965656 | EGFR | c.2583G>T (p.Leu861=) c.*28+18904G>T (n.*28+18904G>T) c.2448G>T (p.Leu816=) c.2424G>T (p.Leu808=) c.1782G>T (p.Leu594=) | |
| 7 | g.55191833C>A | CA367580293 | EGFR | c.2584C>A (p.Leu862Met) c.*28+18905C>A (n.*28+18905C>A) c.2449C>A (p.Leu817Met) c.2425C>A (p.Leu809Met) c.1783C>A (p.Leu595Met) | |
| 7 | g.55191833C>G | CA367580292 | EGFR | c.2584C>G (p.Leu862Val) c.*28+18905C>G (n.*28+18905C>G) c.2449C>G (p.Leu817Val) c.2425C>G (p.Leu809Val) c.1783C>G (p.Leu595Val) | |
| 7 | g.55191833C>T | CA454965657 | EGFR | c.2584C>T (p.Leu862=) c.*28+18905C>T (n.*28+18905C>T) c.2449C>T (p.Leu817=) c.2425C>T (p.Leu809=) c.1783C>T (p.Leu595=) | gnomAD v4 |
| 7 | g.55191834T>A | CA367580294 | EGFR | c.2585T>A (p.Leu862Gln) c.*28+18906T>A (n.*28+18906T>A) c.2450T>A (p.Leu817Gln) c.2426T>A (p.Leu809Gln) c.1784T>A (p.Leu595Gln) | COSMIC |
| 7 | g.55191834T>C | CA367580295 | EGFR | c.2585T>C (p.Leu862Pro) c.*28+18906T>C (n.*28+18906T>C) c.2450T>C (p.Leu817Pro) c.2426T>C (p.Leu809Pro) c.1784T>C (p.Leu595Pro) | gnomAD v4 COSMIC |
| 7 | g.55191834T>G | CA367580296 | EGFR | c.2585T>G (p.Leu862Arg) c.*28+18906T>G (n.*28+18906T>G) c.2450T>G (p.Leu817Arg) c.2426T>G (p.Leu809Arg) c.1784T>G (p.Leu595Arg) | COSMIC |
| 7 | g.55191835G>A | CA454965658 | EGFR | c.2586G>A (p.Leu862=) c.*28+18907G>A (n.*28+18907G>A) c.2451G>A (p.Leu817=) c.2427G>A (p.Leu809=) c.1785G>A (p.Leu595=) | gnomAD v4 |
| 7 | g.55191835G>C | CA454965659 | EGFR | c.2586G>C (p.Leu862=) c.*28+18907G>C (n.*28+18907G>C) c.2451G>C (p.Leu817=) c.2427G>C (p.Leu809=) c.1785G>C (p.Leu595=) | |
| 7 | g.55191835G>T | CA454965660 | EGFR | c.2586G>T (p.Leu862=) c.*28+18907G>T (n.*28+18907G>T) c.2451G>T (p.Leu817=) c.2427G>T (p.Leu809=) c.1785G>T (p.Leu595=) | |
| 7 | g.55191836G>A | CA367580297 | EGFR | c.2587G>A (p.Gly863Ser) c.*28+18908G>A (n.*28+18908G>A) c.2452G>A (p.Gly818Ser) c.2428G>A (p.Gly810Ser) c.1786G>A (p.Gly596Ser) | ClinVar gnomAD v4 COSMIC |
| 7 | g.55191836G>C | CA367580298 | EGFR | c.2587G>C (p.Gly863Arg) c.*28+18908G>C (n.*28+18908G>C) c.2452G>C (p.Gly818Arg) c.2428G>C (p.Gly810Arg) c.1786G>C (p.Gly596Arg) | |
| 7 | g.55191836G>T | CA367580299 | EGFR | c.2587G>T (p.Gly863Cys) c.*28+18908G>T (n.*28+18908G>T) c.2452G>T (p.Gly818Cys) c.2428G>T (p.Gly810Cys) c.1786G>T (p.Gly596Cys) | ClinVar gnomAD v4 |
| 7 | g.55191837G>A | CA158934272 | EGFR | c.2588G>A (p.Gly863Asp) c.*28+18909G>A (n.*28+18909G>A) c.2453G>A (p.Gly818Asp) c.2429G>A (p.Gly810Asp) c.1787G>A (p.Gly596Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191837G>C | CA367580300 | EGFR | c.2588G>C (p.Gly863Ala) c.*28+18909G>C (n.*28+18909G>C) c.2453G>C (p.Gly818Ala) c.2429G>C (p.Gly810Ala) c.1787G>C (p.Gly596Ala) | |
| 7 | g.55191837G= | CA1708922675 | EGFR | c.2588G= (p.Gly863=) c.*28+18909G= (n.*28+18909G=) c.2453G= (p.Gly818=) c.2429G= (p.Gly810=) c.1787G= (p.Gly596=) | |
| 7 | g.55191837G>T | CA367580301 | EGFR | c.2588G>T (p.Gly863Val) c.*28+18909G>T (n.*28+18909G>T) c.2453G>T (p.Gly818Val) c.2429G>T (p.Gly810Val) c.1787G>T (p.Gly596Val) | COSMIC |
| 7 | g.55191838T>A | CA454965663 | EGFR | c.2589T>A (p.Gly863=) c.*28+18910T>A (n.*28+18910T>A) c.2454T>A (p.Gly818=) c.2430T>A (p.Gly810=) c.1788T>A (p.Gly596=) | |
| 7 | g.55191838T>C | CA454965662 | EGFR | c.2589T>C (p.Gly863=) c.*28+18910T>C (n.*28+18910T>C) c.2454T>C (p.Gly818=) c.2430T>C (p.Gly810=) c.1788T>C (p.Gly596=) | |
| 7 | g.55191838T>G | CA454965661 | EGFR | c.2589T>G (p.Gly863=) c.*28+18910T>G (n.*28+18910T>G) c.2454T>G (p.Gly818=) c.2430T>G (p.Gly810=) c.1788T>G (p.Gly596=) | COSMIC |
| 7 | g.55191839G>A | CA367580302 | EGFR | c.2590G>A (p.Ala864Thr) c.*28+18911G>A (n.*28+18911G>A) c.2455G>A (p.Ala819Thr) c.2431G>A (p.Ala811Thr) c.1789G>A (p.Ala597Thr) | ClinVar gnomAD v4 COSMIC |
| 7 | g.55191839G>C | CA367580303 | EGFR | c.2590G>C (p.Ala864Pro) c.*28+18911G>C (n.*28+18911G>C) c.2455G>C (p.Ala819Pro) c.2431G>C (p.Ala811Pro) c.1789G>C (p.Ala597Pro) | |
| 7 | g.55191839G= | CA1708922678 | EGFR | c.2590G= (p.Ala864=) c.*28+18911G= (n.*28+18911G=) c.2455G= (p.Ala819=) c.2431G= (p.Ala811=) c.1789G= (p.Ala597=) | |
| 7 | g.55191839G>T | CA367580304 | EGFR | c.2590G>T (p.Ala864Ser) c.*28+18911G>T (n.*28+18911G>T) c.2455G>T (p.Ala819Ser) c.2431G>T (p.Ala811Ser) c.1789G>T (p.Ala597Ser) | |
| 7 | g.55191840C>A | CA367580305 | EGFR | c.2591C>A (p.Ala864Glu) c.*28+18912C>A (n.*28+18912C>A) c.2456C>A (p.Ala819Glu) c.2432C>A (p.Ala811Glu) c.1790C>A (p.Ala597Glu) | COSMIC |
| 7 | g.55191840C>G | CA367580306 | EGFR | c.2591C>G (p.Ala864Gly) c.*28+18912C>G (n.*28+18912C>G) c.2456C>G (p.Ala819Gly) c.2432C>G (p.Ala811Gly) c.1790C>G (p.Ala597Gly) | gnomAD v4 |
| 7 | g.55191840C>T | CA367580307 | EGFR | c.2591C>T (p.Ala864Val) c.*28+18912C>T (n.*28+18912C>T) c.2456C>T (p.Ala819Val) c.2432C>T (p.Ala811Val) c.1790C>T (p.Ala597Val) | ClinVar gnomAD v4 COSMIC |
| 7 | g.55191841G>A | CA135943 | EGFR | c.2592G>A (p.Ala864=) c.*28+18913G>A (n.*28+18913G>A) c.2457G>A (p.Ala819=) c.2433G>A (p.Ala811=) c.1791G>A (p.Ala597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191841G>C | CA454965665 | EGFR | c.2592G>C (p.Ala864=) c.*28+18913G>C (n.*28+18913G>C) c.2457G>C (p.Ala819=) c.2433G>C (p.Ala811=) c.1791G>C (p.Ala597=) | |
| 7 | g.55191841G= | CA1708922684 | EGFR | c.2592G= (p.Ala864=) c.*28+18913G= (n.*28+18913G=) c.2457G= (p.Ala819=) c.2433G= (p.Ala811=) c.1791G= (p.Ala597=) | |
| 7 | g.55191841G>T | CA454965664 | EGFR | c.2592G>T (p.Ala864=) c.*28+18913G>T (n.*28+18913G>T) c.2457G>T (p.Ala819=) c.2433G>T (p.Ala811=) c.1791G>T (p.Ala597=) | gnomAD v4 |
| 7 | g.55191842G>A | CA367580309 | EGFR | c.2593G>A (p.Glu865Lys) c.*28+18914G>A (n.*28+18914G>A) c.2458G>A (p.Glu820Lys) c.2434G>A (p.Glu812Lys) c.1792G>A (p.Glu598Lys) | ClinVar gnomAD v4 COSMIC |
| 7 | g.55191842G>C | CA367580308 | EGFR | c.2593G>C (p.Glu865Gln) c.*28+18914G>C (n.*28+18914G>C) c.2458G>C (p.Glu820Gln) c.2434G>C (p.Glu812Gln) c.1792G>C (p.Glu598Gln) | |
| 7 | g.55191842G>T | CA367580310 | EGFR | c.2593G>T (p.Glu865Ter) c.*28+18914G>T (n.*28+18914G>T) c.2458G>T (p.Glu820Ter) c.2434G>T (p.Glu812Ter) c.1792G>T (p.Glu598Ter) | |
| 7 | g.55191843A>C | CA367580311 | EGFR | c.2594A>C (p.Glu865Ala) c.*28+18915A>C (n.*28+18915A>C) c.2459A>C (p.Glu820Ala) c.2435A>C (p.Glu812Ala) c.1793A>C (p.Glu598Ala) | |
| 7 | g.55191843A>G | CA367580312 | EGFR | c.2594A>G (p.Glu865Gly) c.*28+18915A>G (n.*28+18915A>G) c.2459A>G (p.Glu820Gly) c.2435A>G (p.Glu812Gly) c.1793A>G (p.Glu598Gly) | |
| 7 | g.55191843A>T | CA367580313 | EGFR | c.2594A>T (p.Glu865Val) c.*28+18915A>T (n.*28+18915A>T) c.2459A>T (p.Glu820Val) c.2435A>T (p.Glu812Val) c.1793A>T (p.Glu598Val) | |
| 7 | g.55191844A>C | CA367580314 | EGFR | c.2595A>C (p.Glu865Asp) c.*28+18916A>C (n.*28+18916A>C) c.2460A>C (p.Glu820Asp) c.2436A>C (p.Glu812Asp) c.1794A>C (p.Glu598Asp) | |
| 7 | g.55191844A>G | CA454965666 | EGFR | c.2595A>G (p.Glu865=) c.*28+18916A>G (n.*28+18916A>G) c.2460A>G (p.Glu820=) c.2436A>G (p.Glu812=) c.1794A>G (p.Glu598=) | ClinVar gnomAD v4 |
| 7 | g.55191844A>T | CA367580315 | EGFR | c.2595A>T (p.Glu865Asp) c.*28+18916A>T (n.*28+18916A>T) c.2460A>T (p.Glu820Asp) c.2436A>T (p.Glu812Asp) c.1794A>T (p.Glu598Asp) | |
| 7 | g.55191845G>A | CA4266116 | EGFR | c.2596G>A (p.Glu866Lys) c.*28+18917G>A (n.*28+18917G>A) c.2461G>A (p.Glu821Lys) c.2437G>A (p.Glu813Lys) c.1795G>A (p.Glu599Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |