| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55174751_55174768dup | CA645550319 | EGFR | c.2055_2072dup (p.Ile691_Lys692insLysIleProValAlaIle) c.563_580dup c.2214_2231dup (p.Ile744_Lys745insLysIleProValAlaIle) c.*28+1823_*28+1840dup (n.*28+1823_*28+1840dup) c.2079_2096dup (p.Ile699_Lys700insLysIleProValAlaIle) c.1413_1430dup (p.Ile477_Lys478insLysIleProValAlaIle) | dbSNP COSMIC COSMIC |
| 7 | g.55174754_55174771dup | CA135785 | EGFR | c.2058_2075dup (p.Lys692_Glu693insIleProValAlaIleLys) c.566_583dup c.2217_2234dup (p.Lys745_Glu746insIleProValAlaIleLys) c.*28+1826_*28+1843dup (n.*28+1826_*28+1843dup) c.2082_2099dup (p.Lys700_Glu701insIleProValAlaIleLys) c.1416_1433dup (p.Lys478_Glu479insIleProValAlaIleLys) | ClinVar dbSNP COSMIC COSMIC |
| 7 | g.55174755_55174772dup | CA645550321 | EGFR | c.2059_2076dup (p.Lys692_Glu693insIleProValAlaIleLys) c.567_584dup c.2218_2235dup (p.Lys745_Glu746insIleProValAlaIleLys) c.*28+1827_*28+1844dup (n.*28+1827_*28+1844dup) c.2083_2100dup (p.Lys700_Glu701insIleProValAlaIleLys) c.1417_1434dup (p.Lys478_Glu479insIleProValAlaIleLys) | COSMIC |
| 7 | g.55174756_55174773dup | CA645550322 | EGFR | c.2060_2077dup (p.Lys692_Glu693insValProValAlaIleLys) c.568_585dup c.2219_2236dup (p.Lys745_Glu746insValProValAlaIleLys) c.*28+1828_*28+1845dup (n.*28+1828_*28+1845dup) c.2084_2101dup (p.Lys700_Glu701insValProValAlaIleLys) c.1418_1435dup (p.Lys478_Glu479insValProValAlaIleLys) | dbSNP COSMIC |
| 7 | g.55174771_55174772insAACTCCCGTCGCTATCAA | CA645550323 | EGFR | c.2075_2076insAACTCCCGTCGCTATCAA (p.Lys692_Glu693insThrProValAlaIleLys) c.583_584insAACTCCCGTCGCTATCAA c.2234_2235insAACTCCCGTCGCTATCAA (p.Lys745_Glu746insThrProValAlaIleLys) c.*28+1843_*28+1844insAACTCCCGTCGCTATCAA (n.*28+1843_*28+1844insAACTCCCGTCGCTATCAA) c.2099_2100insAACTCCCGTCGCTATCAA (p.Lys700_Glu701insThrProValAlaIleLys) c.1433_1434insAACTCCCGTCGCTATCAA (p.Lys478_Glu479insThrProValAlaIleLys) | dbSNP COSMIC |
| 7 | g.55174766T>A | CA454979399 | EGFR | c.2070T>A (p.Ala690=) c.578T>A c.2229T>A (p.Ala743=) c.*28+1838T>A (n.*28+1838T>A) c.2094T>A (p.Ala698=) c.1428T>A (p.Ala476=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55174766T>C | CA454979401 | EGFR | c.2070T>C (p.Ala690=) c.578T>C c.2229T>C (p.Ala743=) c.*28+1838T>C (n.*28+1838T>C) c.2094T>C (p.Ala698=) c.1428T>C (p.Ala476=) | ClinVar dbSNP |
| 7 | g.55174766T>G | CA454979403 | EGFR | c.2070T>G (p.Ala690=) c.578T>G c.2229T>G (p.Ala743=) c.*28+1838T>G (n.*28+1838T>G) c.2094T>G (p.Ala698=) c.1428T>G (p.Ala476=) | |
| 7 | g.55174766T= | CA1708918303 | EGFR | c.2070T= (p.Ala690=) c.578T= c.2229T= (p.Ala743=) c.*28+1838T= (n.*28+1838T=) c.2094T= (p.Ala698=) c.1428T= (p.Ala476=) | |
| 7 | g.55174766_55174786delinsTATCAAGGAATTAAGAGAAGC | CA1708918302 | EGFR | c.2070_2090delinsTATCAAGGAATTAAGAGAAGC (p.Ala690=) c.578_598delinsTATCAAGGAATTAAGAGAAGC c.2229_2249delinsTATCAAGGAATTAAGAGAAGC (p.Ala743=) c.*28+1838_*28+1858delinsTATCAAGGAATTAAGAGAAGC (n.*28+1838_*28+1858delinsTATCAAGGAATTAAGAGAAGC) c.2094_2114delinsTATCAAGGAATTAAGAGAAGC (p.Ala698=) c.1428_1448delinsTATCAAGGAATTAAGAGAAGC (p.Ala476=) | |
| 7 | g.55174766_55174789delinsAATTAAGA | CA645561481 | EGFR | c.2070_2093delinsAATTAAGA (p.Glu693AsnfsTer15) c.578_601delinsAATTAAGA c.2229_2252delinsAATTAAGA (p.Glu746AsnfsTer15) c.*28+1838_*28+1861delinsAATTAAGA (n.*28+1838_*28+1861delinsAATTAAGA) c.2094_2117delinsAATTAAGA (p.Glu701AsnfsTer15) c.1428_1451delinsAATTAAGA (p.Glu479AsnfsTer15) | COSMIC |
| 7 | g.55174767A= | CA1708918304 | EGFR | c.2071A= (p.Ile691=) c.579A= c.2230A= (p.Ile744=) c.*28+1839A= (n.*28+1839A=) c.2095A= (p.Ile699=) c.1429A= (p.Ile477=) | |
| 7 | g.55174767A>C | CA367584127 | EGFR | c.2071A>C (p.Ile691Leu) c.579A>C c.2230A>C (p.Ile744Leu) c.*28+1839A>C (n.*28+1839A>C) c.2095A>C (p.Ile699Leu) c.1429A>C (p.Ile477Leu) | |
| 7 | g.55174767A>G | CA367584132 | EGFR | c.2071A>G (p.Ile691Val) c.579A>G c.2230A>G (p.Ile744Val) c.*28+1839A>G (n.*28+1839A>G) c.2095A>G (p.Ile699Val) c.1429A>G (p.Ile477Val) | ClinVar dbSNP COSMIC |
| 7 | g.55174767A>T | CA367584129 | EGFR | c.2071A>T (p.Ile691Phe) c.579A>T c.2230A>T (p.Ile744Phe) c.*28+1839A>T (n.*28+1839A>T) c.2095A>T (p.Ile699Phe) c.1429A>T (p.Ile477Phe) | dbSNP |
| 7 | g.55174767_55174783delinsCTTAAGAG | CA645561483 | EGFR | c.2071_2087delinsCTTAAGAG (p.Ile691_Glu696delinsLeuLysArg) c.579_595delinsCTTAAGAG c.2230_2246delinsCTTAAGAG (p.Ile744_Glu749delinsLeuLysArg) c.*28+1839_*28+1855delinsCTTAAGAG (n.*28+1839_*28+1855delinsCTTAAGAG) c.2095_2111delinsCTTAAGAG (p.Ile699_Glu704delinsLeuLysArg) c.1429_1445delinsCTTAAGAG (p.Ile477_Glu482delinsLeuLysArg) | dbSNP COSMIC |
| 7 | g.55174767_55174786delinsGTCAA | CA175993 | EGFR | c.2071_2090delinsGTCAA (p.Ile691_Ala697delinsValLys) c.579_598delinsGTCAA c.2230_2249delinsGTCAA (p.Ile744_Ala750delinsValLys) c.*28+1839_*28+1858delinsGTCAA (n.*28+1839_*28+1858delinsGTCAA) c.2095_2114delinsGTCAA (p.Ile699_Ala705delinsValLys) c.1429_1448delinsGTCAA (p.Ile477_Ala483delinsValLys) | ClinVar dbSNP COSMIC |
| 7 | g.55174768T>A | CA367584133 | EGFR | c.2072T>A (p.Ile691Asn) c.580T>A c.2231T>A (p.Ile744Asn) c.*28+1840T>A (n.*28+1840T>A) c.2096T>A (p.Ile699Asn) c.1430T>A (p.Ile477Asn) | dbSNP |
| 7 | g.55174768T>C | CA367584135 | EGFR | c.2072T>C (p.Ile691Thr) c.580T>C c.2231T>C (p.Ile744Thr) c.*28+1840T>C (n.*28+1840T>C) c.2096T>C (p.Ile699Thr) c.1430T>C (p.Ile477Thr) | COSMIC |
| 7 | g.55174768T>G | CA367584137 | EGFR | c.2072T>G (p.Ile691Ser) c.580T>G c.2231T>G (p.Ile744Ser) c.*28+1840T>G (n.*28+1840T>G) c.2096T>G (p.Ile699Ser) c.1430T>G (p.Ile477Ser) | dbSNP |
| 7 | g.55174768T= | CA1708918307 | EGFR | c.2072T= (p.Ile691=) c.580T= c.2231T= (p.Ile744=) c.*28+1840T= (n.*28+1840T=) c.2096T= (p.Ile699=) c.1430T= (p.Ile477=) | |
| 7 | g.55174768_55174786delinsTCAAGGAATTAAGAGAAGC | CA1708918305 | EGFR | c.2072_2090delinsTCAAGGAATTAAGAGAAGC (p.Ile691=) c.580_598delinsTCAAGGAATTAAGAGAAGC c.2231_2249delinsTCAAGGAATTAAGAGAAGC (p.Ile744=) c.*28+1840_*28+1858delinsTCAAGGAATTAAGAGAAGC (n.*28+1840_*28+1858delinsTCAAGGAATTAAGAGAAGC) c.2096_2114delinsTCAAGGAATTAAGAGAAGC (p.Ile699=) c.1430_1448delinsTCAAGGAATTAAGAGAAGC (p.Ile477=) | |
| 7 | g.55174768_55174787delinsTCAAGGAATTAAGAGAAGCA | CA1708918306 | EGFR | c.2072_2091delinsTCAAGGAATTAAGAGAAGCA (p.Ile691=) c.580_599delinsTCAAGGAATTAAGAGAAGCA c.2231_2250delinsTCAAGGAATTAAGAGAAGCA (p.Ile744=) c.*28+1840_*28+1859delinsTCAAGGAATTAAGAGAAGCA (n.*28+1840_*28+1859delinsTCAAGGAATTAAGAGAAGCA) c.2096_2115delinsTCAAGGAATTAAGAGAAGCA (p.Ile699=) c.1430_1449delinsTCAAGGAATTAAGAGAAGCA (p.Ile477=) | |
| 7 | g.55174768_55174789delinsTCAAGGAATTAAGAGAAGCAAC | CA1708918308 | EGFR | c.2072_2093delinsTCAAGGAATTAAGAGAAGCAAC (p.Ile691=) c.580_601delinsTCAAGGAATTAAGAGAAGCAAC c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC (p.Ile744=) c.*28+1840_*28+1861delinsTCAAGGAATTAAGAGAAGCAAC (n.*28+1840_*28+1861delinsTCAAGGAATTAAGAGAAGCAAC) c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC (p.Ile699=) c.1430_1451delinsTCAAGGAATTAAGAGAAGCAAC (p.Ile477=) | |
| 7 | g.55174768_55174769insAAAATTCCCGTCGCTA | CA180774 | EGFR | c.2072_2073insAAAATTCCCGTCGCTA (p.Glu693PhefsTer22) c.580_581insAAAATTCCCGTCGCTA c.2231_2232insAAAATTCCCGTCGCTA (p.Glu746PhefsTer22) c.*28+1840_*28+1841insAAAATTCCCGTCGCTA (n.*28+1840_*28+1841insAAAATTCCCGTCGCTA) c.2096_2097insAAAATTCCCGTCGCTA (p.Glu701PhefsTer22) c.1430_1431insAAAATTCCCGTCGCTA (p.Glu479PhefsTer22) | ClinVar dbSNP |
| 7 | g.55174769C>A | CA454979423 | EGFR | c.2073C>A (p.Ile691=) c.581C>A c.2232C>A (p.Ile744=) c.*28+1841C>A (n.*28+1841C>A) c.2097C>A (p.Ile699=) c.1431C>A (p.Ile477=) | dbSNP COSMIC |
| 7 | g.55174769C= | CA1708918309 | EGFR | c.2073C= (p.Ile691=) c.581C= c.2232C= (p.Ile744=) c.*28+1841C= (n.*28+1841C=) c.2097C= (p.Ile699=) c.1431C= (p.Ile477=) | |
| 7 | g.55174769C>G | CA367584139 | EGFR | c.2073C>G (p.Ile691Met) c.581C>G c.2232C>G (p.Ile744Met) c.*28+1841C>G (n.*28+1841C>G) c.2097C>G (p.Ile699Met) c.1431C>G (p.Ile477Met) | dbSNP COSMIC |
| 7 | g.55174769C>T | CA135791 | EGFR | c.2073C>T (p.Ile691=) c.581C>T c.2232C>T (p.Ile744=) c.*28+1841C>T (n.*28+1841C>T) c.2097C>T (p.Ile699=) c.1431C>T (p.Ile477=) | ClinVar dbSNP |
| 7 | g.55174769_55174786del | CA645561484 | EGFR | c.2073_2090del (p.Lys692_Ala697del) c.581_598del c.2232_2249del (p.Lys745_Ala750del) c.*28+1841_*28+1858del (n.*28+1841_*28+1858del) c.2097_2114del (p.Lys700_Ala705del) c.1431_1448del (p.Lys478_Ala483del) | dbSNP COSMIC |
| 7 | g.55174769_55174786delinsAAA | CA135794 | EGFR | c.2073_2090delinsAAA (p.Glu693_Ala697del) c.581_598delinsAAA c.2232_2249delinsAAA (p.Glu746_Ala750del) c.*28+1841_*28+1858delinsAAA (n.*28+1841_*28+1858delinsAAA) c.2097_2114delinsAAA (p.Glu701_Ala705del) c.1431_1448delinsAAA (p.Glu479_Ala483del) | ClinVar dbSNP COSMIC |
| 7 | g.55174769_55174787del | CA180767 | EGFR | c.2073_2091del (p.Lys692HisfsTer15) c.581_599del c.2232_2250del (p.Lys745HisfsTer15) c.*28+1841_*28+1859del (n.*28+1841_*28+1859del) c.2097_2115del (p.Lys700HisfsTer15) c.1431_1449del (p.Lys478HisfsTer15) | ClinVar dbSNP |
| 7 | g.55174769_55174789delinsAAAGTT | CA181093 | EGFR | c.2073_2093delinsAAAGTT (p.Glu693_Thr698delinsLeu) c.581_601delinsAAAGTT c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu) c.*28+1841_*28+1861delinsAAAGTT (n.*28+1841_*28+1861delinsAAAGTT) c.2097_2117delinsAAAGTT (p.Glu701_Thr706delinsLeu) c.1431_1451delinsAAAGTT (p.Glu479_Thr484delinsLeu) | ClinVar dbSNP |
| 7 | g.55174770A>C | CA367584141 | EGFR | c.2074A>C (p.Lys692Gln) c.582A>C c.2233A>C (p.Lys745Gln) c.*28+1842A>C (n.*28+1842A>C) c.2098A>C (p.Lys700Gln) c.1432A>C (p.Lys478Gln) | |
| 7 | g.55174770A>G | CA367584142 | EGFR | c.2074A>G (p.Lys692Glu) c.582A>G c.2233A>G (p.Lys745Glu) c.*28+1842A>G (n.*28+1842A>G) c.2098A>G (p.Lys700Glu) c.1432A>G (p.Lys478Glu) | gnomAD v4 |
| 7 | g.55174770A>T | CA367584140 | EGFR | c.2074A>T (p.Lys692Ter) c.582A>T c.2233A>T (p.Lys745Ter) c.*28+1842A>T (n.*28+1842A>T) c.2098A>T (p.Lys700Ter) c.1432A>T (p.Lys478Ter) | dbSNP |
| 7 | g.55174771_55174772insAATTCCGGTGGCCATTAA | CA2573051074 | EGFR | c.2075_2076insAATTCCGGTGGCCATTAA (p.Lys692_Glu693insIleProValAlaIleLys) c.583_584insAATTCCGGTGGCCATTAA c.2234_2235insAATTCCGGTGGCCATTAA (p.Lys745_Glu746insIleProValAlaIleLys) c.*28+1843_*28+1844insAATTCCGGTGGCCATTAA (n.*28+1843_*28+1844insAATTCCGGTGGCCATTAA) c.2099_2100insAATTCCGGTGGCCATTAA (p.Lys700_Glu701insIleProValAlaIleLys) c.1433_1434insAATTCCGGTGGCCATTAA (p.Lys478_Glu479insIleProValAlaIleLys) | |
| 7 | g.55174770_55174773delinsAAGG | CA1708918310 | EGFR | c.2074_2077delinsAAGG (p.Lys692=) c.582_585delinsAAGG c.2233_2236delinsAAGG (p.Lys745=) c.*28+1842_*28+1845delinsAAGG (n.*28+1842_*28+1845delinsAAGG) c.2098_2101delinsAAGG (p.Lys700=) c.1432_1435delinsAAGG (p.Lys478=) | |
| 7 | g.55174770_55174784del | CA645561485 | EGFR | c.2074_2088del (p.Lys692_Glu696del) c.582_596del c.2233_2247del (p.Lys745_Glu749del) c.*28+1842_*28+1856del (n.*28+1842_*28+1856del) c.2098_2112del (p.Lys700_Glu704del) c.1432_1446del (p.Lys478_Glu482del) | dbSNP COSMIC |
| 7 | g.55174771A= | CA1708918312 | EGFR | c.2075A= (p.Lys692=) c.583A= c.2234A= (p.Lys745=) c.*28+1843A= (n.*28+1843A=) c.2099A= (p.Lys700=) c.1433A= (p.Lys478=) | |
| 7 | g.55174771A>C | CA367584143 | EGFR | c.2075A>C (p.Lys692Thr) c.583A>C c.2234A>C (p.Lys745Thr) c.*28+1843A>C (n.*28+1843A>C) c.2099A>C (p.Lys700Thr) c.1433A>C (p.Lys478Thr) | |
| 7 | g.55174771A>G | CA16602542 | EGFR | c.2075A>G (p.Lys692Arg) c.583A>G c.2234A>G (p.Lys745Arg) c.*28+1843A>G (n.*28+1843A>G) c.2099A>G (p.Lys700Arg) c.1433A>G (p.Lys478Arg) | ClinVar dbSNP COSMIC |
| 7 | g.55174771A>T | CA367584144 | EGFR | c.2075A>T (p.Lys692Met) c.583A>T c.2234A>T (p.Lys745Met) c.*28+1843A>T (n.*28+1843A>T) c.2099A>T (p.Lys700Met) c.1433A>T (p.Lys478Met) | |
| 7 | g.55174772_55174774del | CA645561488 | EGFR | c.2076_2078del (p.Glu693del) c.584_586del c.2235_2237del (p.Glu746del) c.*28+1844_*28+1846del (n.*28+1844_*28+1846del) c.2100_2102del (p.Glu701del) c.1434_1436del (p.Glu479del) | ClinVar dbSNP COSMIC |
| 7 | g.55174771_55174780delinsAGGAATTAAG | CA1708918313 | EGFR | c.2075_2084delinsAGGAATTAAG (p.Lys692=) c.583_592delinsAGGAATTAAG c.2234_2243delinsAGGAATTAAG (p.Lys745=) c.*28+1843_*28+1852delinsAGGAATTAAG (n.*28+1843_*28+1852delinsAGGAATTAAG) c.2099_2108delinsAGGAATTAAG (p.Lys700=) c.1433_1442delinsAGGAATTAAG (p.Lys478=) | |
| 7 | g.55174772_55174783del | CA645561487 | EGFR | c.2076_2087del (p.Glu693_Glu696del) c.584_595del c.2235_2246del (p.Glu746_Glu749del) c.*28+1844_*28+1855del (n.*28+1844_*28+1855del) c.2100_2111del (p.Glu701_Glu704del) c.1434_1445del (p.Glu479_Glu482del) | dbSNP COSMIC |
| 7 | g.55174771_55174785del | CA645561486 | EGFR | c.2075_2089del (p.Lys692_Ala697delinsThr) c.583_597del c.2234_2248del (p.Lys745_Ala750delinsThr) c.*28+1843_*28+1857del (n.*28+1843_*28+1857del) c.2099_2113del (p.Lys700_Ala705delinsThr) c.1433_1447del (p.Lys478_Ala483delinsThr) | dbSNP COSMIC |
| 7 | g.55174771_55174785delinsAGGAATTAAGAGAAG | CA1708918314 | EGFR | c.2075_2089delinsAGGAATTAAGAGAAG (p.Lys692=) c.583_597delinsAGGAATTAAGAGAAG c.2234_2248delinsAGGAATTAAGAGAAG (p.Lys745=) c.*28+1843_*28+1857delinsAGGAATTAAGAGAAG (n.*28+1843_*28+1857delinsAGGAATTAAGAGAAG) c.2099_2113delinsAGGAATTAAGAGAAG (p.Lys700=) c.1433_1447delinsAGGAATTAAGAGAAG (p.Lys478=) | |
| 7 | g.55174771_55174786delinsAGGAATTAAGAGAAGC | CA1708918311 | EGFR | c.2075_2090delinsAGGAATTAAGAGAAGC (p.Lys692=) c.583_598delinsAGGAATTAAGAGAAGC c.2234_2249delinsAGGAATTAAGAGAAGC (p.Lys745=) c.*28+1843_*28+1858delinsAGGAATTAAGAGAAGC (n.*28+1843_*28+1858delinsAGGAATTAAGAGAAGC) c.2099_2114delinsAGGAATTAAGAGAAGC (p.Lys700=) c.1433_1448delinsAGGAATTAAGAGAAGC (p.Lys478=) | |
| 7 | g.55174771_55174788delinsAGGAATTAAGAGAAGCAA | CA1708918315 | EGFR | c.2075_2092delinsAGGAATTAAGAGAAGCAA (p.Lys692=) c.583_600delinsAGGAATTAAGAGAAGCAA c.2234_2251delinsAGGAATTAAGAGAAGCAA (p.Lys745=) c.*28+1843_*28+1860delinsAGGAATTAAGAGAAGCAA (n.*28+1843_*28+1860delinsAGGAATTAAGAGAAGCAA) c.2099_2116delinsAGGAATTAAGAGAAGCAA (p.Lys700=) c.1433_1450delinsAGGAATTAAGAGAAGCAA (p.Lys478=) |