| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55174743G>A | CA367584022 | EGFR | c.2047G>A (p.Glu683Lys) c.555G>A c.2206G>A (p.Glu736Lys) c.*28+1815G>A (n.*28+1815G>A) c.2071G>A (p.Glu691Lys) c.1405G>A (p.Glu469Lys) | ClinVar dbSNP |
| 7 | g.55174743G>C | CA367584023 | EGFR | c.2047G>C (p.Glu683Gln) c.555G>C c.2206G>C (p.Glu736Gln) c.*28+1815G>C (n.*28+1815G>C) c.2071G>C (p.Glu691Gln) c.1405G>C (p.Glu469Gln) | dbSNP |
| 7 | g.55174743G= | CA1708918290 | EGFR | c.2047G= (p.Glu683=) c.555G= c.2206G= (p.Glu736=) c.*28+1815G= (n.*28+1815G=) c.2071G= (p.Glu691=) c.1405G= (p.Glu469=) | |
| 7 | g.55174743G>T | CA367584025 | EGFR | c.2047G>T (p.Glu683Ter) c.555G>T c.2206G>T (p.Glu736Ter) c.*28+1815G>T (n.*28+1815G>T) c.2071G>T (p.Glu691Ter) c.1405G>T (p.Glu469Ter) | dbSNP |
| 7 | g.55174744A>C | CA367584027 | EGFR | c.2048A>C (p.Glu683Ala) c.556A>C c.2207A>C (p.Glu736Ala) c.*28+1816A>C (n.*28+1816A>C) c.2072A>C (p.Glu691Ala) c.1406A>C (p.Glu469Ala) | |
| 7 | g.55174744A>G | CA367584029 | EGFR | c.2048A>G (p.Glu683Gly) c.556A>G c.2207A>G (p.Glu736Gly) c.*28+1816A>G (n.*28+1816A>G) c.2072A>G (p.Glu691Gly) c.1406A>G (p.Glu469Gly) | |
| 7 | g.55174744A>T | CA367584030 | EGFR | c.2048A>T (p.Glu683Val) c.556A>T c.2207A>T (p.Glu736Val) c.*28+1816A>T (n.*28+1816A>T) c.2072A>T (p.Glu691Val) c.1406A>T (p.Glu469Val) | dbSNP |
| 7 | g.55174745G>A | CA454979317 | EGFR | c.2049G>A (p.Glu683=) c.557G>A c.2208G>A (p.Glu736=) c.*28+1817G>A (n.*28+1817G>A) c.2073G>A (p.Glu691=) c.1407G>A (p.Glu469=) | ClinVar dbSNP |
| 7 | g.55174745G>C | CA367584033 | EGFR | c.2049G>C (p.Glu683Asp) c.557G>C c.2208G>C (p.Glu736Asp) c.*28+1817G>C (n.*28+1817G>C) c.2073G>C (p.Glu691Asp) c.1407G>C (p.Glu469Asp) | ClinVar dbSNP |
| 7 | g.55174745G>T | CA367584034 | EGFR | c.2049G>T (p.Glu683Asp) c.557G>T c.2208G>T (p.Glu736Asp) c.*28+1817G>T (n.*28+1817G>T) c.2073G>T (p.Glu691Asp) c.1407G>T (p.Glu469Asp) | |
| 7 | g.55174746A>C | CA367584037 | EGFR | c.2050A>C (p.Lys684Gln) c.558A>C c.2209A>C (p.Lys737Gln) c.*28+1818A>C (n.*28+1818A>C) c.2074A>C (p.Lys692Gln) c.1408A>C (p.Lys470Gln) | |
| 7 | g.55174746A>G | CA367584039 | EGFR | c.2050A>G (p.Lys684Glu) c.558A>G c.2209A>G (p.Lys737Glu) c.*28+1818A>G (n.*28+1818A>G) c.2074A>G (p.Lys692Glu) c.1408A>G (p.Lys470Glu) | dbSNP COSMIC |
| 7 | g.55174746A>T | CA367584040 | EGFR | c.2050A>T (p.Lys684Ter) c.558A>T c.2209A>T (p.Lys737Ter) c.*28+1818A>T (n.*28+1818A>T) c.2074A>T (p.Lys692Ter) c.1408A>T (p.Lys470Ter) | dbSNP |
| 7 | g.55174747A>C | CA367584046 | EGFR | c.2051A>C (p.Lys684Thr) c.559A>C c.2210A>C (p.Lys737Thr) c.*28+1819A>C (n.*28+1819A>C) c.2075A>C (p.Lys692Thr) c.1409A>C (p.Lys470Thr) | |
| 7 | g.55174747A>G | CA367584044 | EGFR | c.2051A>G (p.Lys684Arg) c.559A>G c.2210A>G (p.Lys737Arg) c.*28+1819A>G (n.*28+1819A>G) c.2075A>G (p.Lys692Arg) c.1409A>G (p.Lys470Arg) | dbSNP |
| 7 | g.55174747A>T | CA367584042 | EGFR | c.2051A>T (p.Lys684Ile) c.559A>T c.2210A>T (p.Lys737Ile) c.*28+1819A>T (n.*28+1819A>T) c.2075A>T (p.Lys692Ile) c.1409A>T (p.Lys470Ile) | dbSNP |
| 7 | g.55174748A>C | CA367584048 | EGFR | c.2052A>C (p.Lys684Asn) c.560A>C c.2211A>C (p.Lys737Asn) c.*28+1820A>C (n.*28+1820A>C) c.2076A>C (p.Lys692Asn) c.1410A>C (p.Lys470Asn) | |
| 7 | g.55174748A>G | CA454979330 | EGFR | c.2052A>G (p.Lys684=) c.560A>G c.2211A>G (p.Lys737=) c.*28+1820A>G (n.*28+1820A>G) c.2076A>G (p.Lys692=) c.1410A>G (p.Lys470=) | ClinVar gnomAD v4 |
| 7 | g.55174748A>T | CA367584049 | EGFR | c.2052A>T (p.Lys684Asn) c.560A>T c.2211A>T (p.Lys737Asn) c.*28+1820A>T (n.*28+1820A>T) c.2076A>T (p.Lys692Asn) c.1410A>T (p.Lys470Asn) | dbSNP |
| 7 | g.55174749G>A | CA367584052 | EGFR | c.2053G>A (p.Val685Ile) c.561G>A c.2212G>A (p.Val738Ile) c.*28+1821G>A (n.*28+1821G>A) c.2077G>A (p.Val693Ile) c.1411G>A (p.Val471Ile) | |
| 7 | g.55174749G>C | CA367584053 | EGFR | c.2053G>C (p.Val685Leu) c.561G>C c.2212G>C (p.Val738Leu) c.*28+1821G>C (n.*28+1821G>C) c.2077G>C (p.Val693Leu) c.1411G>C (p.Val471Leu) | dbSNP |
| 7 | g.55174749G>T | CA367584056 | EGFR | c.2053G>T (p.Val685Phe) c.561G>T c.2212G>T (p.Val738Phe) c.*28+1821G>T (n.*28+1821G>T) c.2077G>T (p.Val693Phe) c.1411G>T (p.Val471Phe) | ClinVar dbSNP gnomAD v4 |
| 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 |