Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.55174751_55174768dupCA645550319EGFRc.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
7g.55174754_55174771dupCA135785EGFRc.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
7g.55174755_55174772dupCA645550321EGFRc.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
7g.55174756_55174773dupCA645550322EGFRc.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
7g.55174771_55174772insAACTCCCGTCGCTATCAACA645550323EGFRc.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
7g.55174762T>ACA367584110EGFRc.2066T>A (p.Val689Asp)
c.574T>A
c.2225T>A (p.Val742Asp)
c.*28+1834T>A (n.*28+1834T>A)
c.2090T>A (p.Val697Asp)
c.1424T>A (p.Val475Asp)
dbSNP
7g.55174762T>CCA16602541EGFRc.2066T>C (p.Val689Ala)
c.574T>C
c.2225T>C (p.Val742Ala)
c.*28+1834T>C (n.*28+1834T>C)
c.2090T>C (p.Val697Ala)
c.1424T>C (p.Val475Ala)
ClinVar dbSNP COSMIC
7g.55174762T>GCA367584112EGFRc.2066T>G (p.Val689Gly)
c.574T>G
c.2225T>G (p.Val742Gly)
c.*28+1834T>G (n.*28+1834T>G)
c.2090T>G (p.Val697Gly)
c.1424T>G (p.Val475Gly)
dbSNP
7g.55174762T=CA1708918299EGFRc.2066T= (p.Val689=)
c.574T=
c.2225T= (p.Val742=)
c.*28+1834T= (n.*28+1834T=)
c.2090T= (p.Val697=)
c.1424T= (p.Val475=)
7g.55174763C>ACA454979393EGFRc.2067C>A (p.Val689=)
c.575C>A
c.2226C>A (p.Val742=)
c.*28+1835C>A (n.*28+1835C>A)
c.2091C>A (p.Val697=)
c.1425C>A (p.Val475=)
dbSNP
7g.55174763C=CA1708918300EGFRc.2067C= (p.Val689=)
c.575C=
c.2226C= (p.Val742=)
c.*28+1835C= (n.*28+1835C=)
c.2091C= (p.Val697=)
c.1425C= (p.Val475=)
7g.55174763C>GCA454979394EGFRc.2067C>G (p.Val689=)
c.575C>G
c.2226C>G (p.Val742=)
c.*28+1835C>G (n.*28+1835C>G)
c.2091C>G (p.Val697=)
c.1425C>G (p.Val475=)
dbSNP
7g.55174763C>TCA4266018EGFRc.2067C>T (p.Val689=)
c.575C>T
c.2226C>T (p.Val742=)
c.*28+1835C>T (n.*28+1835C>T)
c.2091C>T (p.Val697=)
c.1425C>T (p.Val475=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.55174764G>ACA4266019EGFRc.2068G>A (p.Ala690Thr)
c.576G>A
c.2227G>A (p.Ala743Thr)
c.*28+1836G>A (n.*28+1836G>A)
c.2092G>A (p.Ala698Thr)
c.1426G>A (p.Ala476Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.55174764G>CCA367584117EGFRc.2068G>C (p.Ala690Pro)
c.576G>C
c.2227G>C (p.Ala743Pro)
c.*28+1836G>C (n.*28+1836G>C)
c.2092G>C (p.Ala698Pro)
c.1426G>C (p.Ala476Pro)
dbSNP
7g.55174764G=CA1708918301EGFRc.2068G= (p.Ala690=)
c.576G=
c.2227G= (p.Ala743=)
c.*28+1836G= (n.*28+1836G=)
c.2092G= (p.Ala698=)
c.1426G= (p.Ala476=)
7g.55174764G>TCA367584119EGFRc.2068G>T (p.Ala690Ser)
c.576G>T
c.2227G>T (p.Ala743Ser)
c.*28+1836G>T (n.*28+1836G>T)
c.2092G>T (p.Ala698Ser)
c.1426G>T (p.Ala476Ser)
dbSNP
7g.55174765C>ACA367584121EGFRc.2069C>A (p.Ala690Asp)
c.577C>A
c.2228C>A (p.Ala743Asp)
c.*28+1837C>A (n.*28+1837C>A)
c.2093C>A (p.Ala698Asp)
c.1427C>A (p.Ala476Asp)
dbSNP
7g.55174765C>GCA367584123EGFRc.2069C>G (p.Ala690Gly)
c.577C>G
c.2228C>G (p.Ala743Gly)
c.*28+1837C>G (n.*28+1837C>G)
c.2093C>G (p.Ala698Gly)
c.1427C>G (p.Ala476Gly)
dbSNP
7g.55174765C>TCA367584124EGFRc.2069C>T (p.Ala690Val)
c.577C>T
c.2228C>T (p.Ala743Val)
c.*28+1837C>T (n.*28+1837C>T)
c.2093C>T (p.Ala698Val)
c.1427C>T (p.Ala476Val)
dbSNP gnomAD v4 COSMIC
7g.55174766T>ACA454979399EGFRc.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
7g.55174766T>CCA454979401EGFRc.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
7g.55174766T>GCA454979403EGFRc.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=)
7g.55174766T=CA1708918303EGFRc.2070T= (p.Ala690=)
c.578T=
c.2229T= (p.Ala743=)
c.*28+1838T= (n.*28+1838T=)
c.2094T= (p.Ala698=)
c.1428T= (p.Ala476=)
7g.55174766_55174786delinsTATCAAGGAATTAAGAGAAGCCA1708918302EGFRc.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=)
7g.55174766_55174789delinsAATTAAGACA645561481EGFRc.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
7g.55174767A=CA1708918304EGFRc.2071A= (p.Ile691=)
c.579A=
c.2230A= (p.Ile744=)
c.*28+1839A= (n.*28+1839A=)
c.2095A= (p.Ile699=)
c.1429A= (p.Ile477=)
7g.55174767A>CCA367584127EGFRc.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)
7g.55174767A>GCA367584132EGFRc.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
7g.55174767A>TCA367584129EGFRc.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
7g.55174767_55174783delinsCTTAAGAGCA645561483EGFRc.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
7g.55174767_55174786delinsGTCAACA175993EGFRc.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
7g.55174768T>ACA367584133EGFRc.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
7g.55174768T>CCA367584135EGFRc.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
7g.55174768T>GCA367584137EGFRc.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
7g.55174768T=CA1708918307EGFRc.2072T= (p.Ile691=)
c.580T=
c.2231T= (p.Ile744=)
c.*28+1840T= (n.*28+1840T=)
c.2096T= (p.Ile699=)
c.1430T= (p.Ile477=)
7g.55174768_55174786delinsTCAAGGAATTAAGAGAAGCCA1708918305EGFRc.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=)
7g.55174768_55174787delinsTCAAGGAATTAAGAGAAGCACA1708918306EGFRc.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=)
7g.55174768_55174789delinsTCAAGGAATTAAGAGAAGCAACCA1708918308EGFRc.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=)
7g.55174768_55174769insAAAATTCCCGTCGCTACA180774EGFRc.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
7g.55174769C>ACA454979423EGFRc.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
7g.55174769C=CA1708918309EGFRc.2073C= (p.Ile691=)
c.581C=
c.2232C= (p.Ile744=)
c.*28+1841C= (n.*28+1841C=)
c.2097C= (p.Ile699=)
c.1431C= (p.Ile477=)
7g.55174769C>GCA367584139EGFRc.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
7g.55174769C>TCA135791EGFRc.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
7g.55174769_55174786delCA645561484EGFRc.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
7g.55174769_55174786delinsAAACA135794EGFRc.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
7g.55174769_55174787delCA180767EGFRc.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
7g.55174769_55174789delinsAAAGTTCA181093EGFRc.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
7g.55174770A>CCA367584141EGFRc.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)
7g.55174770A>GCA367584142EGFRc.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

Number of alleles fetched