Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55174750T>A | CA367584060 | EGFR | c.2054T>A (p.Val685Asp) c.562T>A c.2213T>A (p.Val738Asp) c.*28+1822T>A (n.*28+1822T>A) c.2078T>A (p.Val693Asp) c.1412T>A (p.Val471Asp) | dbSNP |
7 | g.55174750T>C | CA367584059 | EGFR | c.2054T>C (p.Val685Ala) c.562T>C c.2213T>C (p.Val738Ala) c.*28+1822T>C (n.*28+1822T>C) c.2078T>C (p.Val693Ala) c.1412T>C (p.Val471Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.55174750T>G | CA367584058 | EGFR | c.2054T>G (p.Val685Gly) c.562T>G c.2213T>G (p.Val738Gly) c.*28+1822T>G (n.*28+1822T>G) c.2078T>G (p.Val693Gly) c.1412T>G (p.Val471Gly) | dbSNP gnomAD v4 COSMIC |
7 | g.55174750T= | CA1708918291 | EGFR | c.2054T= (p.Val685=) c.562T= c.2213T= (p.Val738=) c.*28+1822T= (n.*28+1822T=) c.2078T= (p.Val693=) c.1412T= (p.Val471=) | |
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.55174751T>A | CA454979353 | EGFR | c.2055T>A (p.Val685=) c.563T>A c.2214T>A (p.Val738=) c.*28+1823T>A (n.*28+1823T>A) c.2079T>A (p.Val693=) c.1413T>A (p.Val471=) | gnomAD v4 |
7 | g.55174751T>C | CA454979347 | EGFR | c.2055T>C (p.Val685=) c.563T>C c.2214T>C (p.Val738=) c.*28+1823T>C (n.*28+1823T>C) c.2079T>C (p.Val693=) c.1413T>C (p.Val471=) | |
7 | g.55174751T>G | CA454979346 | EGFR | c.2055T>G (p.Val685=) c.563T>G c.2214T>G (p.Val738=) c.*28+1823T>G (n.*28+1823T>G) c.2079T>G (p.Val693=) c.1413T>G (p.Val471=) | |
7 | g.55174751T= | CA1708918292 | EGFR | c.2055T= (p.Val685=) c.563T= c.2214T= (p.Val738=) c.*28+1823T= (n.*28+1823T=) c.2079T= (p.Val693=) c.1413T= (p.Val471=) | |
7 | g.55174752A>C | CA367584063 | EGFR | c.2056A>C (p.Lys686Gln) c.564A>C c.2215A>C (p.Lys739Gln) c.*28+1824A>C (n.*28+1824A>C) c.2080A>C (p.Lys694Gln) c.1414A>C (p.Lys472Gln) | |
7 | g.55174752A>G | CA367584065 | EGFR | c.2056A>G (p.Lys686Glu) c.564A>G c.2215A>G (p.Lys739Glu) c.*28+1824A>G (n.*28+1824A>G) c.2080A>G (p.Lys694Glu) c.1414A>G (p.Lys472Glu) | dbSNP gnomAD v4 |
7 | g.55174752A>T | CA367584066 | EGFR | c.2056A>T (p.Lys686Ter) c.564A>T c.2215A>T (p.Lys739Ter) c.*28+1824A>T (n.*28+1824A>T) c.2080A>T (p.Lys694Ter) c.1414A>T (p.Lys472Ter) | dbSNP |
7 | g.55174755del | CA645550320 | EGFR | c.2059del (p.Ile687PhefsTer8) c.567del c.2218del (p.Ile740PhefsTer8) c.*28+1827del (n.*28+1827del) c.2083del (p.Ile695PhefsTer8) c.1417del (p.Ile473PhefsTer8) | gnomAD v4 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.55174753A>C | CA367584070 | EGFR | c.2057A>C (p.Lys686Thr) c.565A>C c.2216A>C (p.Lys739Thr) c.*28+1825A>C (n.*28+1825A>C) c.2081A>C (p.Lys694Thr) c.1415A>C (p.Lys472Thr) | |
7 | g.55174753A>G | CA367584071 | EGFR | c.2057A>G (p.Lys686Arg) c.565A>G c.2216A>G (p.Lys739Arg) c.*28+1825A>G (n.*28+1825A>G) c.2081A>G (p.Lys694Arg) c.1415A>G (p.Lys472Arg) | dbSNP |
7 | g.55174753A>T | CA367584073 | EGFR | c.2057A>T (p.Lys686Ile) c.565A>T c.2216A>T (p.Lys739Ile) c.*28+1825A>T (n.*28+1825A>T) c.2081A>T (p.Lys694Ile) c.1415A>T (p.Lys472Ile) | gnomAD v4 |
7 | g.55174754A= | CA1708918293 | EGFR | c.2058A= (p.Lys686=) c.566A= c.2217A= (p.Lys739=) c.*28+1826A= (n.*28+1826A=) c.2082A= (p.Lys694=) c.1416A= (p.Lys472=) | |
7 | g.55174754A>C | CA367584075 | EGFR | c.2058A>C (p.Lys686Asn) c.566A>C c.2217A>C (p.Lys739Asn) c.*28+1826A>C (n.*28+1826A>C) c.2082A>C (p.Lys694Asn) c.1416A>C (p.Lys472Asn) | |
7 | g.55174754A>G | CA454979363 | EGFR | c.2058A>G (p.Lys686=) c.566A>G c.2217A>G (p.Lys739=) c.*28+1826A>G (n.*28+1826A>G) c.2082A>G (p.Lys694=) c.1416A>G (p.Lys472=) | |
7 | g.55174754A>T | CA4266013 | EGFR | c.2058A>T (p.Lys686Asn) c.566A>T c.2217A>T (p.Lys739Asn) c.*28+1826A>T (n.*28+1826A>T) c.2082A>T (p.Lys694Asn) c.1416A>T (p.Lys472Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55174755A= | CA1708918294 | EGFR | c.2059A= (p.Ile687=) c.567A= c.2218A= (p.Ile740=) c.*28+1827A= (n.*28+1827A=) c.2083A= (p.Ile695=) c.1417A= (p.Ile473=) | |
7 | g.55174755A>C | CA367584078 | EGFR | c.2059A>C (p.Ile687Leu) c.567A>C c.2218A>C (p.Ile740Leu) c.*28+1827A>C (n.*28+1827A>C) c.2083A>C (p.Ile695Leu) c.1417A>C (p.Ile473Leu) | ClinVar dbSNP |
7 | g.55174755A>G | CA4266014 | EGFR | c.2059A>G (p.Ile687Val) c.567A>G c.2218A>G (p.Ile740Val) c.*28+1827A>G (n.*28+1827A>G) c.2083A>G (p.Ile695Val) c.1417A>G (p.Ile473Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.55174755A>T | CA367584081 | EGFR | c.2059A>T (p.Ile687Phe) c.567A>T c.2218A>T (p.Ile740Phe) c.*28+1827A>T (n.*28+1827A>T) c.2083A>T (p.Ile695Phe) c.1417A>T (p.Ile473Phe) | dbSNP |
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.55174756T>A | CA367584083 | EGFR | c.2060T>A (p.Ile687Asn) c.568T>A c.2219T>A (p.Ile740Asn) c.*28+1828T>A (n.*28+1828T>A) c.2084T>A (p.Ile695Asn) c.1418T>A (p.Ile473Asn) | dbSNP |
7 | g.55174756T>C | CA135788 | EGFR | c.2060T>C (p.Ile687Thr) c.568T>C c.2219T>C (p.Ile740Thr) c.*28+1828T>C (n.*28+1828T>C) c.2084T>C (p.Ile695Thr) c.1418T>C (p.Ile473Thr) | ClinVar dbSNP COSMIC |
7 | g.55174756T>G | CA367584086 | EGFR | c.2060T>G (p.Ile687Ser) c.568T>G c.2219T>G (p.Ile740Ser) c.*28+1828T>G (n.*28+1828T>G) c.2084T>G (p.Ile695Ser) c.1418T>G (p.Ile473Ser) | dbSNP |
7 | g.55174756T= | CA1708918295 | EGFR | c.2060T= (p.Ile687=) c.568T= c.2219T= (p.Ile740=) c.*28+1828T= (n.*28+1828T=) c.2084T= (p.Ile695=) c.1418T= (p.Ile473=) | |
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.55174757T>A | CA454979373 | EGFR | c.2061T>A (p.Ile687=) c.569T>A c.2220T>A (p.Ile740=) c.*28+1829T>A (n.*28+1829T>A) c.2085T>A (p.Ile695=) c.1419T>A (p.Ile473=) | dbSNP |
7 | g.55174757T>C | CA4266015 | EGFR | c.2061T>C (p.Ile687=) c.569T>C c.2220T>C (p.Ile740=) c.*28+1829T>C (n.*28+1829T>C) c.2085T>C (p.Ile695=) c.1419T>C (p.Ile473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.55174757T>G | CA367584088 | EGFR | c.2061T>G (p.Ile687Met) c.569T>G c.2220T>G (p.Ile740Met) c.*28+1829T>G (n.*28+1829T>G) c.2085T>G (p.Ile695Met) c.1419T>G (p.Ile473Met) | |
7 | g.55174757T= | CA1708918296 | EGFR | c.2061T= (p.Ile687=) c.569T= c.2220T= (p.Ile740=) c.*28+1829T= (n.*28+1829T=) c.2085T= (p.Ile695=) c.1419T= (p.Ile473=) | |
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.55174758C>A | CA367584091 | EGFR | c.2062C>A (p.Pro688Thr) c.570C>A c.2221C>A (p.Pro741Thr) c.*28+1830C>A (n.*28+1830C>A) c.2086C>A (p.Pro696Thr) c.1420C>A (p.Pro474Thr) | dbSNP |
7 | g.55174758C>G | CA367584092 | EGFR | c.2062C>G (p.Pro688Ala) c.570C>G c.2221C>G (p.Pro741Ala) c.*28+1830C>G (n.*28+1830C>G) c.2086C>G (p.Pro696Ala) c.1420C>G (p.Pro474Ala) | dbSNP |
7 | g.55174758C>T | CA367584094 | EGFR | c.2062C>T (p.Pro688Ser) c.570C>T c.2221C>T (p.Pro741Ser) c.*28+1830C>T (n.*28+1830C>T) c.2086C>T (p.Pro696Ser) c.1420C>T (p.Pro474Ser) | dbSNP COSMIC |
7 | g.55174759C>A | CA367584098 | EGFR | c.2063C>A (p.Pro688His) c.571C>A c.2222C>A (p.Pro741His) c.*28+1831C>A (n.*28+1831C>A) c.2087C>A (p.Pro696His) c.1421C>A (p.Pro474His) | dbSNP |
7 | g.55174759C>G | CA367584100 | EGFR | c.2063C>G (p.Pro688Arg) c.571C>G c.2222C>G (p.Pro741Arg) c.*28+1831C>G (n.*28+1831C>G) c.2087C>G (p.Pro696Arg) c.1421C>G (p.Pro474Arg) | dbSNP |
7 | g.55174759C>T | CA367584097 | EGFR | c.2063C>T (p.Pro688Leu) c.571C>T c.2222C>T (p.Pro741Leu) c.*28+1831C>T (n.*28+1831C>T) c.2087C>T (p.Pro696Leu) c.1421C>T (p.Pro474Leu) | ClinVar dbSNP COSMIC |
7 | g.55174760C>A | CA4266017 | EGFR | c.2064C>A (p.Pro688=) c.572C>A c.2223C>A (p.Pro741=) c.*28+1832C>A (n.*28+1832C>A) c.2088C>A (p.Pro696=) c.1422C>A (p.Pro474=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55174760C= | CA1708918297 | EGFR | c.2064C= (p.Pro688=) c.572C= c.2223C= (p.Pro741=) c.*28+1832C= (n.*28+1832C=) c.2088C= (p.Pro696=) c.1422C= (p.Pro474=) | |
7 | g.55174760C>G | CA454979384 | EGFR | c.2064C>G (p.Pro688=) c.572C>G c.2223C>G (p.Pro741=) c.*28+1832C>G (n.*28+1832C>G) c.2088C>G (p.Pro696=) c.1422C>G (p.Pro474=) | dbSNP |
7 | g.55174760C>T | CA4266016 | EGFR | c.2064C>T (p.Pro688=) c.572C>T c.2223C>T (p.Pro741=) c.*28+1832C>T (n.*28+1832C>T) c.2088C>T (p.Pro696=) c.1422C>T (p.Pro474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55174761G>A | CA158456 | EGFR | c.2065G>A (p.Val689Ile) c.573G>A c.2224G>A (p.Val742Ile) c.*28+1833G>A (n.*28+1833G>A) c.2089G>A (p.Val697Ile) c.1423G>A (p.Val475Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55174761G>C | CA367584104 | EGFR | c.2065G>C (p.Val689Leu) c.573G>C c.2224G>C (p.Val742Leu) c.*28+1833G>C (n.*28+1833G>C) c.2089G>C (p.Val697Leu) c.1423G>C (p.Val475Leu) | dbSNP |
7 | g.55174761G= | CA1708918298 | EGFR | c.2065G= (p.Val689=) c.573G= c.2224G= (p.Val742=) c.*28+1833G= (n.*28+1833G=) c.2089G= (p.Val697=) c.1423G= (p.Val475=) | |
7 | g.55174761G>T | CA367584106 | EGFR | c.2065G>T (p.Val689Phe) c.573G>T c.2224G>T (p.Val742Phe) c.*28+1833G>T (n.*28+1833G>T) c.2089G>T (p.Val697Phe) c.1423G>T (p.Val475Phe) | dbSNP |