| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55174785_55174811del | CA645561536 | EGFR | c.2089_2115del (p.Ala697_Glu705del) c.597_623del c.2248_2274del (p.Ala750_Glu758del) c.*28+1857_*28+1883del (n.*28+1857_*28+1883del) c.2113_2139del (p.Ala705_Glu713del) c.1447_1473del (p.Ala483_Glu491del) | COSMIC |
| 7 | g.55174785_55174810delinsCC | CA645561539 | EGFR | c.2089_2114delinsCC (p.Ala697_Glu705delinsPro) c.597_622delinsCC c.2248_2273delinsCC (p.Ala750_Glu758delinsPro) c.*28+1857_*28+1882delinsCC (n.*28+1857_*28+1882delinsCC) c.2113_2138delinsCC (p.Ala705_Glu713delinsPro) c.1447_1472delinsCC (p.Ala483_Glu491delinsPro) | COSMIC |
| 7 | g.55174785_55174813delinsCCAAC | CA645561538 | EGFR | c.2089_2117delinsCCAAC (p.Ala697_Ile706delinsProThr) c.597_625delinsCCAAC c.2248_2276delinsCCAAC (p.Ala750_Ile759delinsProThr) c.*28+1857_*28+1885delinsCCAAC (n.*28+1857_*28+1885delinsCCAAC) c.2113_2141delinsCCAAC (p.Ala705_Ile714delinsProThr) c.1447_1475delinsCCAAC (p.Ala483_Ile492delinsProThr) | COSMIC |
| 7 | g.55174786_55174811delinsCAACATCTCCGAAAGCCAACAAGGAA | CA1708918353 | EGFR | c.2090_2115delinsCAACATCTCCGAAAGCCAACAAGGAA (p.Ala697=) c.598_623delinsCAACATCTCCGAAAGCCAACAAGGAA c.2249_2274delinsCAACATCTCCGAAAGCCAACAAGGAA (p.Ala750=) c.*28+1858_*28+1883delinsCAACATCTCCGAAAGCCAACAAGGAA (n.*28+1858_*28+1883delinsCAACATCTCCGAAAGCCAACAAGGAA) c.2114_2139delinsCAACATCTCCGAAAGCCAACAAGGAA (p.Ala705=) c.1448_1473delinsCAACATCTCCGAAAGCCAACAAGGAA (p.Ala483=) | |
| 7 | g.55174786_55174814delinsGAAGT | CA645561540 | EGFR | c.2090_2118delinsGAAGT (p.Ala697_Ile706delinsGlySer) c.598_626delinsGAAGT c.2249_2277delinsGAAGT (p.Ala750_Ile759delinsGlySer) c.*28+1858_*28+1886delinsGAAGT (n.*28+1858_*28+1886delinsGAAGT) c.2114_2142delinsGAAGT (p.Ala705_Ile714delinsGlySer) c.1448_1476delinsGAAGT (p.Ala483_Ile492delinsGlySer) | COSMIC |
| 7 | g.55174789_55174812del | CA645561543 | EGFR | c.2093_2116del (p.Thr698_Glu705del) c.601_624del c.2252_2275del (p.Thr751_Glu758del) c.*28+1861_*28+1884del (n.*28+1861_*28+1884del) c.2117_2140del (p.Thr706_Glu713del) c.1451_1474del (p.Thr484_Glu491del) | COSMIC COSMIC |
| 7 | g.55174788_55174812del | CA180628 | EGFR | c.2092_2116del (p.Thr698SerfsTer7) c.600_624del c.2251_2275del (p.Thr751SerfsTer7) c.*28+1860_*28+1884del (n.*28+1860_*28+1884del) c.2116_2140del (p.Thr706SerfsTer7) c.1450_1474del (p.Thr484SerfsTer7) | ClinVar dbSNP |
| 7 | g.55174787_55174813delinsCAA | CA645561542 | EGFR | c.2091_2117delinsCAA (p.Thr698_Ile706delinsAsn) c.599_625delinsCAA c.2250_2276delinsCAA (p.Thr751_Ile759delinsAsn) c.*28+1859_*28+1885delinsCAA (n.*28+1859_*28+1885delinsCAA) c.2115_2141delinsCAA (p.Thr706_Ile714delinsAsn) c.1449_1475delinsCAA (p.Thr484_Ile492delinsAsn) | COSMIC |
| 7 | g.55174787_55174814delinsAACATCTCCGAAAGCCAACAAGGAAATC | CA1708918354 | EGFR | c.2091_2118delinsAACATCTCCGAAAGCCAACAAGGAAATC (p.Ala697=) c.599_626delinsAACATCTCCGAAAGCCAACAAGGAAATC c.2250_2277delinsAACATCTCCGAAAGCCAACAAGGAAATC (p.Ala750=) c.*28+1859_*28+1886delinsAACATCTCCGAAAGCCAACAAGGAAATC (n.*28+1859_*28+1886delinsAACATCTCCGAAAGCCAACAAGGAAATC) c.2115_2142delinsAACATCTCCGAAAGCCAACAAGGAAATC (p.Ala705=) c.1449_1476delinsAACATCTCCGAAAGCCAACAAGGAAATC (p.Ala483=) | |
| 7 | g.55174788_55174813delinsTC | CA645561544 | EGFR | c.2092_2117delinsTC (p.Thr698_Ile706delinsSer) c.600_625delinsTC c.2251_2276delinsTC (p.Thr751_Ile759delinsSer) c.*28+1860_*28+1885delinsTC (n.*28+1860_*28+1885delinsTC) c.2116_2141delinsTC (p.Thr706_Ile714delinsSer) c.1450_1475delinsTC (p.Thr484_Ile492delinsSer) | COSMIC |
| 7 | g.55174788_55174814delinsGAT | CA180978 | EGFR | c.2092_2118delinsGAT (p.Thr698_Ile706delinsAsp) c.600_626delinsGAT c.2251_2277delinsGAT (p.Thr751_Ile759delinsAsp) c.*28+1860_*28+1886delinsGAT (n.*28+1860_*28+1886delinsGAT) c.2116_2142delinsGAT (p.Thr706_Ile714delinsAsp) c.1450_1476delinsGAT (p.Thr484_Ile492delinsAsp) | ClinVar dbSNP |
| 7 | g.55174788_55174814delinsTCT | CA645561545 | EGFR | c.2092_2118delinsTCT (p.Thr698_Ile706delinsSer) c.600_626delinsTCT c.2251_2277delinsTCT (p.Thr751_Ile759delinsSer) c.*28+1860_*28+1886delinsTCT (n.*28+1860_*28+1886delinsTCT) c.2116_2142delinsTCT (p.Thr706_Ile714delinsSer) c.1450_1476delinsTCT (p.Thr484_Ile492delinsSer) | COSMIC |
| 7 | g.55174788_55174814delinsACATCTCCGAAAGCCAACAAGGAAATC | CA1708918355 | EGFR | c.2092_2118delinsACATCTCCGAAAGCCAACAAGGAAATC (p.Thr698=) c.600_626delinsACATCTCCGAAAGCCAACAAGGAAATC c.2251_2277delinsACATCTCCGAAAGCCAACAAGGAAATC (p.Thr751=) c.*28+1860_*28+1886delinsACATCTCCGAAAGCCAACAAGGAAATC (n.*28+1860_*28+1886delinsACATCTCCGAAAGCCAACAAGGAAATC) c.2116_2142delinsACATCTCCGAAAGCCAACAAGGAAATC (p.Thr706=) c.1450_1476delinsACATCTCCGAAAGCCAACAAGGAAATC (p.Thr484=) | |
| 7 | g.55174789_55174812delinsG | CA645561548 | EGFR | c.2093_2116delinsG (p.Thr698SerfsTer4) c.601_624delinsG c.2252_2275delinsG (p.Thr751SerfsTer4) c.*28+1861_*28+1884delinsG (n.*28+1861_*28+1884delinsG) c.2117_2140delinsG (p.Thr706SerfsTer4) c.1451_1474delinsG (p.Thr484SerfsTer4) | COSMIC |
| 7 | g.55174789_55174813delinsA | CA645561546 | EGFR | c.2093_2117delinsA (p.Thr698_Ile706delinsAsn) c.601_625delinsA c.2252_2276delinsA (p.Thr751_Ile759delinsAsn) c.*28+1861_*28+1885delinsA (n.*28+1861_*28+1885delinsA) c.2117_2141delinsA (p.Thr706_Ile714delinsAsn) c.1451_1475delinsA (p.Thr484_Ile492delinsAsn) | COSMIC |
| 7 | g.55174789_55174813delinsG | CA645561549 | EGFR | c.2093_2117delinsG (p.Thr698_Ile706delinsSer) c.601_625delinsG c.2252_2276delinsG (p.Thr751_Ile759delinsSer) c.*28+1861_*28+1885delinsG (n.*28+1861_*28+1885delinsG) c.2117_2141delinsG (p.Thr706_Ile714delinsSer) c.1451_1475delinsG (p.Thr484_Ile492delinsSer) | COSMIC |
| 7 | g.55174789_55174813delinsCATCTCCGAAAGCCAACAAGGAAAT | CA1708918356 | EGFR | c.2093_2117delinsCATCTCCGAAAGCCAACAAGGAAAT (p.Thr698=) c.601_625delinsCATCTCCGAAAGCCAACAAGGAAAT c.2252_2276delinsCATCTCCGAAAGCCAACAAGGAAAT (p.Thr751=) c.*28+1861_*28+1885delinsCATCTCCGAAAGCCAACAAGGAAAT (n.*28+1861_*28+1885delinsCATCTCCGAAAGCCAACAAGGAAAT) c.2117_2141delinsCATCTCCGAAAGCCAACAAGGAAAT (p.Thr706=) c.1451_1475delinsCATCTCCGAAAGCCAACAAGGAAAT (p.Thr484=) | |
| 7 | g.55174789_55174814delinsAA | CA135815 | EGFR | c.2093_2118delinsAA (p.Thr698_Ile706delinsLys) c.601_626delinsAA c.2252_2277delinsAA (p.Thr751_Ile759delinsLys) c.*28+1861_*28+1886delinsAA (n.*28+1861_*28+1886delinsAA) c.2117_2142delinsAA (p.Thr706_Ile714delinsLys) c.1451_1476delinsAA (p.Thr484_Ile492delinsLys) | ClinVar dbSNP |
| 7 | g.55174789_55174814delinsAT | CA645561550 | EGFR | c.2093_2118delinsAT (p.Thr698_Ile706delinsAsn) c.601_626delinsAT c.2252_2277delinsAT (p.Thr751_Ile759delinsAsn) c.*28+1861_*28+1886delinsAT (n.*28+1861_*28+1886delinsAT) c.2117_2142delinsAT (p.Thr706_Ile714delinsAsn) c.1451_1476delinsAT (p.Thr484_Ile492delinsAsn) | COSMIC |
| 7 | g.55174789_55174814delinsGAGAAGCG | CA645561547 | EGFR | c.2093_2118delinsGAGAAGCG (p.Thr698_Ile706delinsArgGluAla) c.601_626delinsGAGAAGCG c.2252_2277delinsGAGAAGCG (p.Thr751_Ile759delinsArgGluAla) c.*28+1861_*28+1886delinsGAGAAGCG (n.*28+1861_*28+1886delinsGAGAAGCG) c.2117_2142delinsGAGAAGCG (p.Thr706_Ile714delinsArgGluAla) c.1451_1476delinsGAGAAGCG (p.Thr484_Ile492delinsArgGluAla) | COSMIC |
| 7 | g.55174790_55174813del | CA180527 | EGFR | c.2094_2117del (p.Ser699_Ile706del) c.602_625del c.2253_2276del (p.Ser752_Ile759del) c.*28+1862_*28+1885del (n.*28+1862_*28+1885del) c.2118_2141del (p.Ser707_Ile714del) c.1452_1475del (p.Ser485_Ile492del) | ClinVar dbSNP COSMIC |
| 7 | g.55174790_55174814delinsATCTCCGAAAGCCAACAAGGAAATC | CA1708918358 | EGFR | c.2094_2118delinsATCTCCGAAAGCCAACAAGGAAATC (p.Thr698=) c.602_626delinsATCTCCGAAAGCCAACAAGGAAATC c.2253_2277delinsATCTCCGAAAGCCAACAAGGAAATC (p.Thr751=) c.*28+1862_*28+1886delinsATCTCCGAAAGCCAACAAGGAAATC (n.*28+1862_*28+1886delinsATCTCCGAAAGCCAACAAGGAAATC) c.2118_2142delinsATCTCCGAAAGCCAACAAGGAAATC (p.Thr706=) c.1452_1476delinsATCTCCGAAAGCCAACAAGGAAATC (p.Thr484=) | |
| 7 | g.55174791_55174814del | CA180524 | EGFR | c.2095_2118del (p.Ser699_Ile706del) c.603_626del c.2254_2277del (p.Ser752_Ile759del) c.*28+1863_*28+1886del (n.*28+1863_*28+1886del) c.2119_2142del (p.Ser707_Ile714del) c.1453_1476del (p.Ser485_Ile492del) | ClinVar dbSNP COSMIC |
| 7 | g.55174795_55174815del | CA645561551 | EGFR | c.2099_2119del (p.Pro700_Ile706del) c.607_627del c.2258_2278del (p.Pro753_Ile759del) c.*28+1867_*28+1887del (n.*28+1867_*28+1887del) c.2123_2143del (p.Pro708_Ile714del) c.1457_1477del (p.Pro486_Ile492del) | COSMIC |
| 7 | g.55174805_55174807dup | CA645561553 | EGFR | c.2109_2111dup (p.Asn703_Lys704insAsn) c.617_619dup c.2268_2270dup (p.Asn756_Lys757insAsn) c.*28+1877_*28+1879dup (n.*28+1877_*28+1879dup) c.2133_2135dup (p.Asn711_Lys712insAsn) c.1467_1469dup (p.Asn489_Lys490insAsn) | COSMIC |
| 7 | g.55174807A= | CA1708918368 | EGFR | c.2111A= (p.Lys704=) c.619A= c.2270A= (p.Lys757=) c.*28+1879A= (n.*28+1879A=) c.2135A= (p.Lys712=) c.1469A= (p.Lys490=) | |
| 7 | g.55174807A>C | CA367584216 | EGFR | c.2111A>C (p.Lys704Thr) c.619A>C c.2270A>C (p.Lys757Thr) c.*28+1879A>C (n.*28+1879A>C) c.2135A>C (p.Lys712Thr) c.1469A>C (p.Lys490Thr) | |
| 7 | g.55174807A>G | CA4266023 | EGFR | c.2111A>G (p.Lys704Arg) c.619A>G c.2270A>G (p.Lys757Arg) c.*28+1879A>G (n.*28+1879A>G) c.2135A>G (p.Lys712Arg) c.1469A>G (p.Lys490Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.55174807A>T | CA135821 | EGFR | c.2111A>T (p.Lys704Met) c.619A>T c.2270A>T (p.Lys757Met) c.*28+1879A>T (n.*28+1879A>T) c.2135A>T (p.Lys712Met) c.1469A>T (p.Lys490Met) | ClinVar dbSNP COSMIC |
| 7 | g.55174808G>A | CA454979634 | EGFR | c.2112G>A (p.Lys704=) c.620G>A c.2271G>A (p.Lys757=) c.*28+1880G>A (n.*28+1880G>A) c.2136G>A (p.Lys712=) c.1470G>A (p.Lys490=) | ClinVar dbSNP |
| 7 | g.55174808G>C | CA367584217 | EGFR | c.2112G>C (p.Lys704Asn) c.620G>C c.2271G>C (p.Lys757Asn) c.*28+1880G>C (n.*28+1880G>C) c.2136G>C (p.Lys712Asn) c.1470G>C (p.Lys490Asn) | dbSNP |
| 7 | g.55174808G= | CA1708918369 | EGFR | c.2112G= (p.Lys704=) c.620G= c.2271G= (p.Lys757=) c.*28+1880G= (n.*28+1880G=) c.2136G= (p.Lys712=) c.1470G= (p.Lys490=) | |
| 7 | g.55174808G>T | CA367584218 | EGFR | c.2112G>T (p.Lys704Asn) c.620G>T c.2271G>T (p.Lys757Asn) c.*28+1880G>T (n.*28+1880G>T) c.2136G>T (p.Lys712Asn) c.1470G>T (p.Lys490Asn) | dbSNP |
| 7 | g.55174809G>A | CA367584219 | EGFR | c.2113G>A (p.Glu705Lys) c.621G>A c.2272G>A (p.Glu758Lys) c.*28+1881G>A (n.*28+1881G>A) c.2137G>A (p.Glu713Lys) c.1471G>A (p.Glu491Lys) | dbSNP gnomAD v4 COSMIC |
| 7 | g.55174809G>C | CA367584220 | EGFR | c.2113G>C (p.Glu705Gln) c.621G>C c.2272G>C (p.Glu758Gln) c.*28+1881G>C (n.*28+1881G>C) c.2137G>C (p.Glu713Gln) c.1471G>C (p.Glu491Gln) | dbSNP gnomAD v4 |
| 7 | g.55174809G= | CA1708918370 | EGFR | c.2113G= (p.Glu705=) c.621G= c.2272G= (p.Glu758=) c.*28+1881G= (n.*28+1881G=) c.2137G= (p.Glu713=) c.1471G= (p.Glu491=) | |
| 7 | g.55174809G>T | CA367584221 | EGFR | c.2113G>T (p.Glu705Ter) c.621G>T c.2272G>T (p.Glu758Ter) c.*28+1881G>T (n.*28+1881G>T) c.2137G>T (p.Glu713Ter) c.1471G>T (p.Glu491Ter) | |
| 7 | g.55174810A= | CA1708918371 | EGFR | c.2114A= (p.Glu705=) c.622A= c.2273A= (p.Glu758=) c.*28+1882A= (n.*28+1882A=) c.2138A= (p.Glu713=) c.1472A= (p.Glu491=) | |
| 7 | g.55174810A>C | CA367584222 | EGFR | c.2114A>C (p.Glu705Ala) c.622A>C c.2273A>C (p.Glu758Ala) c.*28+1882A>C (n.*28+1882A>C) c.2138A>C (p.Glu713Ala) c.1472A>C (p.Glu491Ala) | |
| 7 | g.55174810A>G | CA4266024 | EGFR | c.2114A>G (p.Glu705Gly) c.622A>G c.2273A>G (p.Glu758Gly) c.*28+1882A>G (n.*28+1882A>G) c.2138A>G (p.Glu713Gly) c.1472A>G (p.Glu491Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.55174810A>T | CA367584223 | EGFR | c.2114A>T (p.Glu705Val) c.622A>T c.2273A>T (p.Glu758Val) c.*28+1882A>T (n.*28+1882A>T) c.2138A>T (p.Glu713Val) c.1472A>T (p.Glu491Val) | |
| 7 | g.55174811A>C | CA367584224 | EGFR | c.2115A>C (p.Glu705Asp) c.623A>C c.2274A>C (p.Glu758Asp) c.*28+1883A>C (n.*28+1883A>C) c.2139A>C (p.Glu713Asp) c.1473A>C (p.Glu491Asp) | dbSNP COSMIC |
| 7 | g.55174811A>G | CA454979645 | EGFR | c.2115A>G (p.Glu705=) c.623A>G c.2274A>G (p.Glu758=) c.*28+1883A>G (n.*28+1883A>G) c.2139A>G (p.Glu713=) c.1473A>G (p.Glu491=) | gnomAD v4 |
| 7 | g.55174811A>T | CA367584225 | EGFR | c.2115A>T (p.Glu705Asp) c.623A>T c.2274A>T (p.Glu758Asp) c.*28+1883A>T (n.*28+1883A>T) c.2139A>T (p.Glu713Asp) c.1473A>T (p.Glu491Asp) | ClinVar dbSNP |
| 7 | g.55174812A>C | CA367584226 | EGFR | c.2116A>C (p.Ile706Leu) c.624A>C c.2275A>C (p.Ile759Leu) c.*28+1884A>C (n.*28+1884A>C) c.2140A>C (p.Ile714Leu) c.1474A>C (p.Ile492Leu) | dbSNP |
| 7 | g.55174812A>G | CA367584227 | EGFR | c.2116A>G (p.Ile706Val) c.624A>G c.2275A>G (p.Ile759Val) c.*28+1884A>G (n.*28+1884A>G) c.2140A>G (p.Ile714Val) c.1474A>G (p.Ile492Val) | dbSNP gnomAD v4 |
| 7 | g.55174812A>T | CA367584228 | EGFR | c.2116A>T (p.Ile706Phe) c.624A>T c.2275A>T (p.Ile759Phe) c.*28+1884A>T (n.*28+1884A>T) c.2140A>T (p.Ile714Phe) c.1474A>T (p.Ile492Phe) | dbSNP |
| 7 | g.55174813T>A | CA367584229 | EGFR | c.2117T>A (p.Ile706Asn) c.625T>A c.2276T>A (p.Ile759Asn) c.*28+1885T>A (n.*28+1885T>A) c.2141T>A (p.Ile714Asn) c.1475T>A (p.Ile492Asn) | ClinVar dbSNP COSMIC |
| 7 | g.55174813T>C | CA367584230 | EGFR | c.2117T>C (p.Ile706Thr) c.625T>C c.2276T>C (p.Ile759Thr) c.*28+1885T>C (n.*28+1885T>C) c.2141T>C (p.Ile714Thr) c.1475T>C (p.Ile492Thr) | |
| 7 | g.55174813T>G | CA367584231 | EGFR | c.2117T>G (p.Ile706Ser) c.625T>G c.2276T>G (p.Ile759Ser) c.*28+1885T>G (n.*28+1885T>G) c.2141T>G (p.Ile714Ser) c.1475T>G (p.Ile492Ser) |