| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 7 | g.55191841G= | CA1708922684 | EGFR | c.2433G= (p.Ala811=) c.899+42G= c.2592G= (p.Ala864=) c.*28+18913G= (n.*28+18913G=) c.2457G= (p.Ala819=) c.1791G= (p.Ala597=) | |
| 7 | g.55191841G>T | CA454965664 | EGFR | c.2433G>T (p.Ala811=) c.899+42G>T c.2592G>T (p.Ala864=) c.*28+18913G>T (n.*28+18913G>T) c.2457G>T (p.Ala819=) c.1791G>T (p.Ala597=) | dbSNP gnomAD v4 |
| 7 | g.55191842G>A | CA367580309 | EGFR | c.2434G>A (p.Glu812Lys) c.899+43G>A c.2593G>A (p.Glu865Lys) c.*28+18914G>A (n.*28+18914G>A) c.2458G>A (p.Glu820Lys) c.1792G>A (p.Glu598Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191842G>C | CA367580308 | EGFR | c.2434G>C (p.Glu812Gln) c.899+43G>C c.2593G>C (p.Glu865Gln) c.*28+18914G>C (n.*28+18914G>C) c.2458G>C (p.Glu820Gln) c.1792G>C (p.Glu598Gln) | dbSNP |
| 7 | g.55191842G>T | CA367580310 | EGFR | c.2434G>T (p.Glu812Ter) c.899+43G>T c.2593G>T (p.Glu865Ter) c.*28+18914G>T (n.*28+18914G>T) c.2458G>T (p.Glu820Ter) c.1792G>T (p.Glu598Ter) | |
| 7 | g.55191843A>C | CA367580311 | EGFR | c.2435A>C (p.Glu812Ala) c.899+44A>C c.2594A>C (p.Glu865Ala) c.*28+18915A>C (n.*28+18915A>C) c.2459A>C (p.Glu820Ala) c.1793A>C (p.Glu598Ala) | |
| 7 | g.55191843A>G | CA367580312 | EGFR | c.2435A>G (p.Glu812Gly) c.899+44A>G c.2594A>G (p.Glu865Gly) c.*28+18915A>G (n.*28+18915A>G) c.2459A>G (p.Glu820Gly) c.1793A>G (p.Glu598Gly) | dbSNP |
| 7 | g.55191843A>T | CA367580313 | EGFR | c.2435A>T (p.Glu812Val) c.899+44A>T c.2594A>T (p.Glu865Val) c.*28+18915A>T (n.*28+18915A>T) c.2459A>T (p.Glu820Val) c.1793A>T (p.Glu598Val) | dbSNP |
| 7 | g.55191844A>C | CA367580314 | EGFR | c.2436A>C (p.Glu812Asp) c.899+45A>C c.2595A>C (p.Glu865Asp) c.*28+18916A>C (n.*28+18916A>C) c.2460A>C (p.Glu820Asp) c.1794A>C (p.Glu598Asp) | |
| 7 | g.55191844A>G | CA454965666 | EGFR | c.2436A>G (p.Glu812=) c.899+45A>G c.2595A>G (p.Glu865=) c.*28+18916A>G (n.*28+18916A>G) c.2460A>G (p.Glu820=) c.1794A>G (p.Glu598=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55191844A>T | CA367580315 | EGFR | c.2436A>T (p.Glu812Asp) c.899+45A>T c.2595A>T (p.Glu865Asp) c.*28+18916A>T (n.*28+18916A>T) c.2460A>T (p.Glu820Asp) c.1794A>T (p.Glu598Asp) | dbSNP |
| 7 | g.55191845G>A | CA4266116 | EGFR | c.2437G>A (p.Glu813Lys) c.899+46G>A c.2596G>A (p.Glu866Lys) c.*28+18917G>A (n.*28+18917G>A) c.2461G>A (p.Glu821Lys) c.1795G>A (p.Glu599Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.55191845G>C | CA367580317 | EGFR | c.2437G>C (p.Glu813Gln) c.899+46G>C c.2596G>C (p.Glu866Gln) c.*28+18917G>C (n.*28+18917G>C) c.2461G>C (p.Glu821Gln) c.1795G>C (p.Glu599Gln) | COSMIC |
| 7 | g.55191845G= | CA1708922687 | EGFR | c.2437G= (p.Glu813=) c.899+46G= c.2596G= (p.Glu866=) c.*28+18917G= (n.*28+18917G=) c.2461G= (p.Glu821=) c.1795G= (p.Glu599=) | |
| 7 | g.55191845G>T | CA367580316 | EGFR | c.2437G>T (p.Glu813Ter) c.899+46G>T c.2596G>T (p.Glu866Ter) c.*28+18917G>T (n.*28+18917G>T) c.2461G>T (p.Glu821Ter) c.1795G>T (p.Glu599Ter) | |
| 7 | g.55191846A= | CA1708922693 | EGFR | c.2438A= (p.Glu813=) c.899+47A= c.2597A= (p.Glu866=) c.*28+18918A= (n.*28+18918A=) c.2462A= (p.Glu821=) c.1796A= (p.Glu599=) | |
| 7 | g.55191846A>C | CA367580318 | EGFR | c.2438A>C (p.Glu813Ala) c.899+47A>C c.2597A>C (p.Glu866Ala) c.*28+18918A>C (n.*28+18918A>C) c.2462A>C (p.Glu821Ala) c.1796A>C (p.Glu599Ala) | gnomAD v4 |
| 7 | g.55191846A>G | CA367580319 | EGFR | c.2438A>G (p.Glu813Gly) c.899+47A>G c.2597A>G (p.Glu866Gly) c.*28+18918A>G (n.*28+18918A>G) c.2462A>G (p.Glu821Gly) c.1796A>G (p.Glu599Gly) | dbSNP COSMIC |
| 7 | g.55191846A>T | CA135946 | EGFR | c.2438A>T (p.Glu813Val) c.899+47A>T c.2597A>T (p.Glu866Val) c.*28+18918A>T (n.*28+18918A>T) c.2462A>T (p.Glu821Val) c.1796A>T (p.Glu599Val) | ClinVar dbSNP COSMIC |
| 7 | g.55191847G>A | CA135949 | EGFR | c.2439G>A (p.Glu813=) c.899+48G>A c.2598G>A (p.Glu866=) c.*28+18919G>A (n.*28+18919G>A) c.2463G>A (p.Glu821=) c.1797G>A (p.Glu599=) | ClinVar dbSNP |
| 7 | g.55191847G>C | CA367580320 | EGFR | c.2439G>C (p.Glu813Asp) c.899+48G>C c.2598G>C (p.Glu866Asp) c.*28+18919G>C (n.*28+18919G>C) c.2463G>C (p.Glu821Asp) c.1797G>C (p.Glu599Asp) | dbSNP COSMIC |
| 7 | g.55191847G= | CA1708922700 | EGFR | c.2439G= (p.Glu813=) c.899+48G= c.2598G= (p.Glu866=) c.*28+18919G= (n.*28+18919G=) c.2463G= (p.Glu821=) c.1797G= (p.Glu599=) | |
| 7 | g.55191847G>T | CA367580321 | EGFR | c.2439G>T (p.Glu813Asp) c.899+48G>T c.2598G>T (p.Glu866Asp) c.*28+18919G>T (n.*28+18919G>T) c.2463G>T (p.Glu821Asp) c.1797G>T (p.Glu599Asp) | COSMIC |
| 7 | g.55191848A>C | CA367580322 | EGFR | c.2440A>C (p.Lys814Gln) c.899+49A>C c.2599A>C (p.Lys867Gln) c.*28+18920A>C (n.*28+18920A>C) c.2464A>C (p.Lys822Gln) c.1798A>C (p.Lys600Gln) | |
| 7 | g.55191848A>G | CA367580324 | EGFR | c.2440A>G (p.Lys814Glu) c.899+49A>G c.2599A>G (p.Lys867Glu) c.*28+18920A>G (n.*28+18920A>G) c.2464A>G (p.Lys822Glu) c.1798A>G (p.Lys600Glu) | dbSNP |
| 7 | g.55191848A>T | CA367580323 | EGFR | c.2440A>T (p.Lys814Ter) c.899+49A>T c.2599A>T (p.Lys867Ter) c.*28+18920A>T (n.*28+18920A>T) c.2464A>T (p.Lys822Ter) c.1798A>T (p.Lys600Ter) | |
| 7 | g.55191849A>C | CA367580325 | EGFR | c.2441A>C (p.Lys814Thr) c.899+50A>C c.2600A>C (p.Lys867Thr) c.*28+18921A>C (n.*28+18921A>C) c.2465A>C (p.Lys822Thr) c.1799A>C (p.Lys600Thr) | |
| 7 | g.55191849A>G | CA367580326 | EGFR | c.2441A>G (p.Lys814Arg) c.899+50A>G c.2600A>G (p.Lys867Arg) c.*28+18921A>G (n.*28+18921A>G) c.2465A>G (p.Lys822Arg) c.1799A>G (p.Lys600Arg) | dbSNP gnomAD v4 |
| 7 | g.55191849A>T | CA367580327 | EGFR | c.2441A>T (p.Lys814Ile) c.899+50A>T c.2600A>T (p.Lys867Ile) c.*28+18921A>T (n.*28+18921A>T) c.2465A>T (p.Lys822Ile) c.1799A>T (p.Lys600Ile) | |
| 7 | g.55191850A>C | CA367580328 | EGFR | c.2442A>C (p.Lys814Asn) c.899+51A>C c.2601A>C (p.Lys867Asn) c.*28+18922A>C (n.*28+18922A>C) c.2466A>C (p.Lys822Asn) c.1800A>C (p.Lys600Asn) | dbSNP |
| 7 | g.55191850A>G | CA454965667 | EGFR | c.2442A>G (p.Lys814=) c.899+51A>G c.2601A>G (p.Lys867=) c.*28+18922A>G (n.*28+18922A>G) c.2466A>G (p.Lys822=) c.1800A>G (p.Lys600=) | dbSNP |
| 7 | g.55191850A>T | CA367580329 | EGFR | c.2442A>T (p.Lys814Asn) c.899+51A>T c.2601A>T (p.Lys867Asn) c.*28+18922A>T (n.*28+18922A>T) c.2466A>T (p.Lys822Asn) c.1800A>T (p.Lys600Asn) | dbSNP |
| 7 | g.55191851G>A | CA269859 | EGFR | c.2443G>A (p.Glu815Lys) c.899+52G>A c.2602G>A (p.Glu868Lys) c.*28+18923G>A (n.*28+18923G>A) c.2467G>A (p.Glu823Lys) c.1801G>A (p.Glu601Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191851G>C | CA367580330 | EGFR | c.2443G>C (p.Glu815Gln) c.899+52G>C c.2602G>C (p.Glu868Gln) c.*28+18923G>C (n.*28+18923G>C) c.2467G>C (p.Glu823Gln) c.1801G>C (p.Glu601Gln) | dbSNP gnomAD v2 |
| 7 | g.55191851G= | CA1708922712 | EGFR | c.2443G= (p.Glu815=) c.899+52G= c.2602G= (p.Glu868=) c.*28+18923G= (n.*28+18923G=) c.2467G= (p.Glu823=) c.1801G= (p.Glu601=) | |
| 7 | g.55191851G>T | CA367580331 | EGFR | c.2443G>T (p.Glu815Ter) c.899+52G>T c.2602G>T (p.Glu868Ter) c.*28+18923G>T (n.*28+18923G>T) c.2467G>T (p.Glu823Ter) c.1801G>T (p.Glu601Ter) | |
| 7 | g.55191852A>C | CA367580332 | EGFR | c.2444A>C (p.Glu815Ala) c.899+53A>C c.2603A>C (p.Glu868Ala) c.*28+18924A>C (n.*28+18924A>C) c.2468A>C (p.Glu823Ala) c.1802A>C (p.Glu601Ala) | |
| 7 | g.55191852A>G | CA367580333 | EGFR | c.2444A>G (p.Glu815Gly) c.899+53A>G c.2603A>G (p.Glu868Gly) c.*28+18924A>G (n.*28+18924A>G) c.2468A>G (p.Glu823Gly) c.1802A>G (p.Glu601Gly) | dbSNP COSMIC |
| 7 | g.55191852A>T | CA367580334 | EGFR | c.2444A>T (p.Glu815Val) c.899+53A>T c.2603A>T (p.Glu868Val) c.*28+18924A>T (n.*28+18924A>T) c.2468A>T (p.Glu823Val) c.1802A>T (p.Glu601Val) | dbSNP COSMIC |
| 7 | g.55191853A>C | CA367580336 | EGFR | c.2445A>C (p.Glu815Asp) c.899+54A>C c.2604A>C (p.Glu868Asp) c.*28+18925A>C (n.*28+18925A>C) c.2469A>C (p.Glu823Asp) c.1803A>C (p.Glu601Asp) | dbSNP |
| 7 | g.55191853A>G | CA454965668 | EGFR | c.2445A>G (p.Glu815=) c.899+54A>G c.2604A>G (p.Glu868=) c.*28+18925A>G (n.*28+18925A>G) c.2469A>G (p.Glu823=) c.1803A>G (p.Glu601=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55191853A>T | CA367580335 | EGFR | c.2445A>T (p.Glu815Asp) c.899+54A>T c.2604A>T (p.Glu868Asp) c.*28+18925A>T (n.*28+18925A>T) c.2469A>T (p.Glu823Asp) c.1803A>T (p.Glu601Asp) | COSMIC |
| 7 | g.55191854T>A | CA367580337 | EGFR | c.2446T>A (p.Tyr816Asn) c.899+55T>A c.2605T>A (p.Tyr869Asn) c.*28+18926T>A (n.*28+18926T>A) c.2470T>A (p.Tyr824Asn) c.1804T>A (p.Tyr602Asn) | dbSNP |
| 7 | g.55191854T>C | CA367580338 | EGFR | c.2446T>C (p.Tyr816His) c.899+55T>C c.2605T>C (p.Tyr869His) c.*28+18926T>C (n.*28+18926T>C) c.2470T>C (p.Tyr824His) c.1804T>C (p.Tyr602His) | ClinVar |