| 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.55191829del | CA2830665551 | EGFR | c.2421del (p.Lys807AsnfsTer?) c.899+30del c.2580del (p.Lys860AsnfsTer?) c.*28+18901del (n.*28+18901del) c.2445del (p.Lys815AsnfsTer?) c.1779del (p.Lys593AsnfsTer?) | |
| 7 | g.55191828A>C | CA367580286 | EGFR | c.2420A>C (p.Lys807Thr) c.899+29A>C c.2579A>C (p.Lys860Thr) c.*28+18900A>C (n.*28+18900A>C) c.2444A>C (p.Lys815Thr) c.1778A>C (p.Lys593Thr) | dbSNP |
| 7 | g.55191828A>G | CA367580287 | EGFR | c.2420A>G (p.Lys807Arg) c.899+29A>G c.2579A>G (p.Lys860Arg) c.*28+18900A>G (n.*28+18900A>G) c.2444A>G (p.Lys815Arg) c.1778A>G (p.Lys593Arg) | dbSNP |
| 7 | g.55191828A>T | CA367580288 | EGFR | c.2420A>T (p.Lys807Ile) c.899+29A>T c.2579A>T (p.Lys860Ile) c.*28+18900A>T (n.*28+18900A>T) c.2444A>T (p.Lys815Ile) c.1778A>T (p.Lys593Ile) | dbSNP COSMIC |
| 7 | g.55191829A= | CA1708922653 | EGFR | c.2421A= (p.Lys807=) c.899+30A= c.2580A= (p.Lys860=) c.*28+18901A= (n.*28+18901A=) c.2445A= (p.Lys815=) c.1779A= (p.Lys593=) | |
| 7 | g.55191829A>C | CA367580289 | EGFR | c.2421A>C (p.Lys807Asn) c.899+30A>C c.2580A>C (p.Lys860Asn) c.*28+18901A>C (n.*28+18901A>C) c.2445A>C (p.Lys815Asn) c.1779A>C (p.Lys593Asn) | dbSNP |
| 7 | g.55191829A>G | CA454965652 | EGFR | c.2421A>G (p.Lys807=) c.899+30A>G c.2580A>G (p.Lys860=) c.*28+18901A>G (n.*28+18901A>G) c.2445A>G (p.Lys815=) c.1779A>G (p.Lys593=) | ClinVar dbSNP |
| 7 | g.55191829A>T | CA135937 | EGFR | c.2421A>T (p.Lys807Asn) c.899+30A>T c.2580A>T (p.Lys860Asn) c.*28+18901A>T (n.*28+18901A>T) c.2445A>T (p.Lys815Asn) c.1779A>T (p.Lys593Asn) | ClinVar dbSNP |
| 7 | g.55191830C>A | CA367580290 | EGFR | c.2422C>A (p.Leu808Met) c.899+31C>A c.2581C>A (p.Leu861Met) c.*28+18902C>A (n.*28+18902C>A) c.2446C>A (p.Leu816Met) c.1780C>A (p.Leu594Met) | dbSNP |
| 7 | g.55191830C>G | CA367580291 | EGFR | c.2422C>G (p.Leu808Val) c.899+31C>G c.2581C>G (p.Leu861Val) c.*28+18902C>G (n.*28+18902C>G) c.2446C>G (p.Leu816Val) c.1780C>G (p.Leu594Val) | dbSNP COSMIC |
| 7 | g.55191830C>T | CA454965653 | EGFR | c.2422C>T (p.Leu808=) c.899+31C>T c.2581C>T (p.Leu861=) c.*28+18902C>T (n.*28+18902C>T) c.2446C>T (p.Leu816=) c.1780C>T (p.Leu594=) | ClinVar dbSNP COSMIC |
| 7 | g.55191831T>A | CA176021 | EGFR | c.2423T>A (p.Leu808Gln) c.899+32T>A c.2582T>A (p.Leu861Gln) c.*28+18903T>A (n.*28+18903T>A) c.2447T>A (p.Leu816Gln) c.1781T>A (p.Leu594Gln) | ClinVar dbSNP COSMIC |
| 7 | g.55191831T>C | CA16602602 | EGFR | c.2423T>C (p.Leu808Pro) c.899+32T>C c.2582T>C (p.Leu861Pro) c.*28+18903T>C (n.*28+18903T>C) c.2447T>C (p.Leu816Pro) c.1781T>C (p.Leu594Pro) | ClinVar dbSNP |
| 7 | g.55191831T>G | CA135940 | EGFR | c.2423T>G (p.Leu808Arg) c.899+32T>G c.2582T>G (p.Leu861Arg) c.*28+18903T>G (n.*28+18903T>G) c.2447T>G (p.Leu816Arg) c.1781T>G (p.Leu594Arg) | ClinVar dbSNP COSMIC |
| 7 | g.55191831T= | CA1708922660 | EGFR | c.2423T= (p.Leu808=) c.899+32T= c.2582T= (p.Leu861=) c.*28+18903T= (n.*28+18903T=) c.2447T= (p.Leu816=) c.1781T= (p.Leu594=) | |
| 7 | g.55191832G>A | CA454965654 | EGFR | c.2424G>A (p.Leu808=) c.899+33G>A c.2583G>A (p.Leu861=) c.*28+18904G>A (n.*28+18904G>A) c.2448G>A (p.Leu816=) c.1782G>A (p.Leu594=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55191832G>C | CA454965655 | EGFR | c.2424G>C (p.Leu808=) c.899+33G>C c.2583G>C (p.Leu861=) c.*28+18904G>C (n.*28+18904G>C) c.2448G>C (p.Leu816=) c.1782G>C (p.Leu594=) | dbSNP gnomAD v4 |
| 7 | g.55191832G= | CA1708922671 | EGFR | c.2424G= (p.Leu808=) c.899+33G= c.2583G= (p.Leu861=) c.*28+18904G= (n.*28+18904G=) c.2448G= (p.Leu816=) c.1782G= (p.Leu594=) | |
| 7 | g.55191832G>T | CA454965656 | EGFR | c.2424G>T (p.Leu808=) c.899+33G>T c.2583G>T (p.Leu861=) c.*28+18904G>T (n.*28+18904G>T) c.2448G>T (p.Leu816=) c.1782G>T (p.Leu594=) | |
| 7 | g.55191833C>A | CA367580293 | EGFR | c.2425C>A (p.Leu809Met) c.899+34C>A c.2584C>A (p.Leu862Met) c.*28+18905C>A (n.*28+18905C>A) c.2449C>A (p.Leu817Met) c.1783C>A (p.Leu595Met) | dbSNP |
| 7 | g.55191833C>G | CA367580292 | EGFR | c.2425C>G (p.Leu809Val) c.899+34C>G c.2584C>G (p.Leu862Val) c.*28+18905C>G (n.*28+18905C>G) c.2449C>G (p.Leu817Val) c.1783C>G (p.Leu595Val) | |
| 7 | g.55191833C>T | CA454965657 | EGFR | c.2425C>T (p.Leu809=) c.899+34C>T c.2584C>T (p.Leu862=) c.*28+18905C>T (n.*28+18905C>T) c.2449C>T (p.Leu817=) c.1783C>T (p.Leu595=) | dbSNP gnomAD v4 |
| 7 | g.55191834T>A | CA367580294 | EGFR | c.2426T>A (p.Leu809Gln) c.899+35T>A c.2585T>A (p.Leu862Gln) c.*28+18906T>A (n.*28+18906T>A) c.2450T>A (p.Leu817Gln) c.1784T>A (p.Leu595Gln) | COSMIC |
| 7 | g.55191834T>C | CA367580295 | EGFR | c.2426T>C (p.Leu809Pro) c.899+35T>C c.2585T>C (p.Leu862Pro) c.*28+18906T>C (n.*28+18906T>C) c.2450T>C (p.Leu817Pro) c.1784T>C (p.Leu595Pro) | gnomAD v4 COSMIC |
| 7 | g.55191834T>G | CA367580296 | EGFR | c.2426T>G (p.Leu809Arg) c.899+35T>G c.2585T>G (p.Leu862Arg) c.*28+18906T>G (n.*28+18906T>G) c.2450T>G (p.Leu817Arg) c.1784T>G (p.Leu595Arg) | COSMIC |
| 7 | g.55191835G>A | CA454965658 | EGFR | c.2427G>A (p.Leu809=) c.899+36G>A c.2586G>A (p.Leu862=) c.*28+18907G>A (n.*28+18907G>A) c.2451G>A (p.Leu817=) c.1785G>A (p.Leu595=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55191835G>C | CA454965659 | EGFR | c.2427G>C (p.Leu809=) c.899+36G>C c.2586G>C (p.Leu862=) c.*28+18907G>C (n.*28+18907G>C) c.2451G>C (p.Leu817=) c.1785G>C (p.Leu595=) | dbSNP |
| 7 | g.55191835G>T | CA454965660 | EGFR | c.2427G>T (p.Leu809=) c.899+36G>T c.2586G>T (p.Leu862=) c.*28+18907G>T (n.*28+18907G>T) c.2451G>T (p.Leu817=) c.1785G>T (p.Leu595=) | dbSNP |
| 7 | g.55191837del | CA3005527689 | EGFR | c.2429del (p.Gly810ValfsTer?) c.899+38del c.2588del (p.Gly863ValfsTer?) c.*28+18909del (n.*28+18909del) c.2453del (p.Gly818ValfsTer?) c.1787del (p.Gly596ValfsTer?) | |
| 7 | g.55191836G>A | CA367580297 | EGFR | c.2428G>A (p.Gly810Ser) c.899+37G>A c.2587G>A (p.Gly863Ser) c.*28+18908G>A (n.*28+18908G>A) c.2452G>A (p.Gly818Ser) c.1786G>A (p.Gly596Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191836G>C | CA367580298 | EGFR | c.2428G>C (p.Gly810Arg) c.899+37G>C c.2587G>C (p.Gly863Arg) c.*28+18908G>C (n.*28+18908G>C) c.2452G>C (p.Gly818Arg) c.1786G>C (p.Gly596Arg) | dbSNP |
| 7 | g.55191836G>T | CA367580299 | EGFR | c.2428G>T (p.Gly810Cys) c.899+37G>T c.2587G>T (p.Gly863Cys) c.*28+18908G>T (n.*28+18908G>T) c.2452G>T (p.Gly818Cys) c.1786G>T (p.Gly596Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55191837G>A | CA158934272 | EGFR | c.2429G>A (p.Gly810Asp) c.899+38G>A c.2588G>A (p.Gly863Asp) c.*28+18909G>A (n.*28+18909G>A) c.2453G>A (p.Gly818Asp) c.1787G>A (p.Gly596Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191837G>C | CA367580300 | EGFR | c.2429G>C (p.Gly810Ala) c.899+38G>C c.2588G>C (p.Gly863Ala) c.*28+18909G>C (n.*28+18909G>C) c.2453G>C (p.Gly818Ala) c.1787G>C (p.Gly596Ala) | dbSNP |
| 7 | g.55191837G= | CA1708922675 | EGFR | c.2429G= (p.Gly810=) c.899+38G= c.2588G= (p.Gly863=) c.*28+18909G= (n.*28+18909G=) c.2453G= (p.Gly818=) c.1787G= (p.Gly596=) | |
| 7 | g.55191837G>T | CA367580301 | EGFR | c.2429G>T (p.Gly810Val) c.899+38G>T c.2588G>T (p.Gly863Val) c.*28+18909G>T (n.*28+18909G>T) c.2453G>T (p.Gly818Val) c.1787G>T (p.Gly596Val) | COSMIC |
| 7 | g.55191838T>A | CA454965663 | EGFR | c.2430T>A (p.Gly810=) c.899+39T>A c.2589T>A (p.Gly863=) c.*28+18910T>A (n.*28+18910T>A) c.2454T>A (p.Gly818=) c.1788T>A (p.Gly596=) | dbSNP |
| 7 | g.55191838T>C | CA454965662 | EGFR | c.2430T>C (p.Gly810=) c.899+39T>C c.2589T>C (p.Gly863=) c.*28+18910T>C (n.*28+18910T>C) c.2454T>C (p.Gly818=) c.1788T>C (p.Gly596=) | |
| 7 | g.55191838T>G | CA454965661 | EGFR | c.2430T>G (p.Gly810=) c.899+39T>G c.2589T>G (p.Gly863=) c.*28+18910T>G (n.*28+18910T>G) c.2454T>G (p.Gly818=) c.1788T>G (p.Gly596=) | dbSNP COSMIC |
| 7 | g.55191839G>A | CA367580302 | EGFR | c.2431G>A (p.Ala811Thr) c.899+40G>A c.2590G>A (p.Ala864Thr) c.*28+18911G>A (n.*28+18911G>A) c.2455G>A (p.Ala819Thr) c.1789G>A (p.Ala597Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191839G>C | CA367580303 | EGFR | c.2431G>C (p.Ala811Pro) c.899+40G>C c.2590G>C (p.Ala864Pro) c.*28+18911G>C (n.*28+18911G>C) c.2455G>C (p.Ala819Pro) c.1789G>C (p.Ala597Pro) | dbSNP |
| 7 | g.55191839G= | CA1708922678 | EGFR | c.2431G= (p.Ala811=) c.899+40G= c.2590G= (p.Ala864=) c.*28+18911G= (n.*28+18911G=) c.2455G= (p.Ala819=) c.1789G= (p.Ala597=) | |
| 7 | g.55191839G>T | CA367580304 | EGFR | c.2431G>T (p.Ala811Ser) c.899+40G>T c.2590G>T (p.Ala864Ser) c.*28+18911G>T (n.*28+18911G>T) c.2455G>T (p.Ala819Ser) c.1789G>T (p.Ala597Ser) | dbSNP |
| 7 | g.55191840C>A | CA367580305 | EGFR | c.2432C>A (p.Ala811Glu) c.899+41C>A c.2591C>A (p.Ala864Glu) c.*28+18912C>A (n.*28+18912C>A) c.2456C>A (p.Ala819Glu) c.1790C>A (p.Ala597Glu) | dbSNP COSMIC |
| 7 | g.55191840C>G | CA367580306 | EGFR | c.2432C>G (p.Ala811Gly) c.899+41C>G c.2591C>G (p.Ala864Gly) c.*28+18912C>G (n.*28+18912C>G) c.2456C>G (p.Ala819Gly) c.1790C>G (p.Ala597Gly) | gnomAD v4 |
| 7 | g.55191840C>T | CA367580307 | EGFR | c.2432C>T (p.Ala811Val) c.899+41C>T c.2591C>T (p.Ala864Val) c.*28+18912C>T (n.*28+18912C>T) c.2456C>T (p.Ala819Val) c.1790C>T (p.Ala597Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191841G>A | CA135943 | EGFR | c.2433G>A (p.Ala811=) c.899+42G>A c.2592G>A (p.Ala864=) c.*28+18913G>A (n.*28+18913G>A) c.2457G>A (p.Ala819=) c.1791G>A (p.Ala597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191841G>C | CA454965665 | EGFR | c.2433G>C (p.Ala811=) c.899+42G>C c.2592G>C (p.Ala864=) c.*28+18913G>C (n.*28+18913G>C) c.2457G>C (p.Ala819=) c.1791G>C (p.Ala597=) | dbSNP |