Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55174727C>A | CA454979255 | EGFR | c.2031C>A (p.Leu677=) c.539C>A c.2190C>A (p.Leu730=) c.*28+1799C>A (n.*28+1799C>A) c.2055C>A (p.Leu685=) c.1389C>A (p.Leu463=) | dbSNP |
7 | g.55174727C= | CA1708918283 | EGFR | c.2031C= (p.Leu677=) c.539C= c.2190C= (p.Leu730=) c.*28+1799C= (n.*28+1799C=) c.2055C= (p.Leu685=) c.1389C= (p.Leu463=) | |
7 | g.55174727C>G | CA4266012 | EGFR | c.2031C>G (p.Leu677=) c.539C>G c.2190C>G (p.Leu730=) c.*28+1799C>G (n.*28+1799C>G) c.2055C>G (p.Leu685=) c.1389C>G (p.Leu463=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.55174727C>T | CA454979251 | EGFR | c.2031C>T (p.Leu677=) c.539C>T c.2190C>T (p.Leu730=) c.*28+1799C>T (n.*28+1799C>T) c.2055C>T (p.Leu685=) c.1389C>T (p.Leu463=) | dbSNP |
7 | g.55174728T>A | CA367583960 | EGFR | c.2032T>A (p.Trp678Arg) c.540T>A c.2191T>A (p.Trp731Arg) c.*28+1800T>A (n.*28+1800T>A) c.2056T>A (p.Trp686Arg) c.1390T>A (p.Trp464Arg) | |
7 | g.55174728T>C | CA367583958 | EGFR | c.2032T>C (p.Trp678Arg) c.540T>C c.2191T>C (p.Trp731Arg) c.*28+1800T>C (n.*28+1800T>C) c.2056T>C (p.Trp686Arg) c.1390T>C (p.Trp464Arg) | |
7 | g.55174728T>G | CA367583957 | EGFR | c.2032T>G (p.Trp678Gly) c.540T>G c.2191T>G (p.Trp731Gly) c.*28+1800T>G (n.*28+1800T>G) c.2056T>G (p.Trp686Gly) c.1390T>G (p.Trp464Gly) | |
7 | g.55174729G>A | CA135782 | EGFR | c.2033G>A (p.Trp678Ter) c.541G>A c.2192G>A (p.Trp731Ter) c.*28+1801G>A (n.*28+1801G>A) c.2057G>A (p.Trp686Ter) c.1391G>A (p.Trp464Ter) | ClinVar dbSNP |
7 | g.55174729G>C | CA367583963 | EGFR | c.2033G>C (p.Trp678Ser) c.541G>C c.2192G>C (p.Trp731Ser) c.*28+1801G>C (n.*28+1801G>C) c.2057G>C (p.Trp686Ser) c.1391G>C (p.Trp464Ser) | dbSNP |
7 | g.55174729G= | CA1708918284 | EGFR | c.2033G= (p.Trp678=) c.541G= c.2192G= (p.Trp731=) c.*28+1801G= (n.*28+1801G=) c.2057G= (p.Trp686=) c.1391G= (p.Trp464=) | |
7 | g.55174729G>T | CA367583965 | EGFR | c.2033G>T (p.Trp678Leu) c.541G>T c.2192G>T (p.Trp731Leu) c.*28+1801G>T (n.*28+1801G>T) c.2057G>T (p.Trp686Leu) c.1391G>T (p.Trp464Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.55174730G>A | CA16602723 | EGFR | c.2034G>A (p.Trp678Ter) c.542G>A c.2193G>A (p.Trp731Ter) c.*28+1802G>A (n.*28+1802G>A) c.2058G>A (p.Trp686Ter) c.1392G>A (p.Trp464Ter) | ClinVar dbSNP COSMIC |
7 | g.55174730G>C | CA367583968 | EGFR | c.2034G>C (p.Trp678Cys) c.542G>C c.2193G>C (p.Trp731Cys) c.*28+1802G>C (n.*28+1802G>C) c.2058G>C (p.Trp686Cys) c.1392G>C (p.Trp464Cys) | dbSNP |
7 | g.55174730G= | CA1708918285 | EGFR | c.2034G= (p.Trp678=) c.542G= c.2193G= (p.Trp731=) c.*28+1802G= (n.*28+1802G=) c.2058G= (p.Trp686=) c.1392G= (p.Trp464=) | |
7 | g.55174730G>T | CA367583970 | EGFR | c.2034G>T (p.Trp678Cys) c.542G>T c.2193G>T (p.Trp731Cys) c.*28+1802G>T (n.*28+1802G>T) c.2058G>T (p.Trp686Cys) c.1392G>T (p.Trp464Cys) | dbSNP |
7 | g.55174731A>C | CA367583973 | EGFR | c.2035A>C (p.Ile679Leu) c.543A>C c.2194A>C (p.Ile732Leu) c.*28+1803A>C (n.*28+1803A>C) c.2059A>C (p.Ile687Leu) c.1393A>C (p.Ile465Leu) | ClinVar dbSNP |
7 | g.55174731A>G | CA367583974 | EGFR | c.2035A>G (p.Ile679Val) c.543A>G c.2194A>G (p.Ile732Val) c.*28+1803A>G (n.*28+1803A>G) c.2059A>G (p.Ile687Val) c.1393A>G (p.Ile465Val) | ClinVar dbSNP |
7 | g.55174731A>T | CA367583975 | EGFR | c.2035A>T (p.Ile679Phe) c.543A>T c.2194A>T (p.Ile732Phe) c.*28+1803A>T (n.*28+1803A>T) c.2059A>T (p.Ile687Phe) c.1393A>T (p.Ile465Phe) | dbSNP gnomAD v4 |
7 | g.55174732T>A | CA367583978 | EGFR | c.2036T>A (p.Ile679Asn) c.544T>A c.2195T>A (p.Ile732Asn) c.*28+1804T>A (n.*28+1804T>A) c.2060T>A (p.Ile687Asn) c.1394T>A (p.Ile465Asn) | |
7 | g.55174732T>C | CA367583980 | EGFR | c.2036T>C (p.Ile679Thr) c.544T>C c.2195T>C (p.Ile732Thr) c.*28+1804T>C (n.*28+1804T>C) c.2060T>C (p.Ile687Thr) c.1394T>C (p.Ile465Thr) | ClinVar COSMIC |
7 | g.55174732T>G | CA367583981 | EGFR | c.2036T>G (p.Ile679Ser) c.544T>G c.2195T>G (p.Ile732Ser) c.*28+1804T>G (n.*28+1804T>G) c.2060T>G (p.Ile687Ser) c.1394T>G (p.Ile465Ser) | |
7 | g.55174733C>A | CA454979273 | EGFR | c.2037C>A (p.Ile679=) c.545C>A c.2196C>A (p.Ile732=) c.*28+1805C>A (n.*28+1805C>A) c.2061C>A (p.Ile687=) c.1395C>A (p.Ile465=) | dbSNP |
7 | g.55174733C>G | CA367583982 | EGFR | c.2037C>G (p.Ile679Met) c.545C>G c.2196C>G (p.Ile732Met) c.*28+1805C>G (n.*28+1805C>G) c.2061C>G (p.Ile687Met) c.1395C>G (p.Ile465Met) | dbSNP |
7 | g.55174733C>T | CA454979276 | EGFR | c.2037C>T (p.Ile679=) c.545C>T c.2196C>T (p.Ile732=) c.*28+1805C>T (n.*28+1805C>T) c.2061C>T (p.Ile687=) c.1395C>T (p.Ile465=) | ClinVar dbSNP gnomAD v4 |
7 | g.55174734C>A | CA367583987 | EGFR | c.2038C>A (p.Pro680Thr) c.546C>A c.2197C>A (p.Pro733Thr) c.*28+1806C>A (n.*28+1806C>A) c.2062C>A (p.Pro688Thr) c.1396C>A (p.Pro466Thr) | dbSNP |
7 | g.55174734C= | CA1708918286 | EGFR | c.2038C= (p.Pro680=) c.546C= c.2197C= (p.Pro733=) c.*28+1806C= (n.*28+1806C=) c.2062C= (p.Pro688=) c.1396C= (p.Pro466=) | |
7 | g.55174734C>G | CA367583988 | EGFR | c.2038C>G (p.Pro680Ala) c.546C>G c.2197C>G (p.Pro733Ala) c.*28+1806C>G (n.*28+1806C>G) c.2062C>G (p.Pro688Ala) c.1396C>G (p.Pro466Ala) | dbSNP |
7 | g.55174734C>T | CA367583985 | EGFR | c.2038C>T (p.Pro680Ser) c.546C>T c.2197C>T (p.Pro733Ser) c.*28+1806C>T (n.*28+1806C>T) c.2062C>T (p.Pro688Ser) c.1396C>T (p.Pro466Ser) | dbSNP COSMIC |
7 | g.55174735C>A | CA367583991 | EGFR | c.2039C>A (p.Pro680Gln) c.547C>A c.2198C>A (p.Pro733Gln) c.*28+1807C>A (n.*28+1807C>A) c.2063C>A (p.Pro688Gln) c.1397C>A (p.Pro466Gln) | dbSNP |
7 | g.55174735C= | CA1708918287 | EGFR | c.2039C= (p.Pro680=) c.547C= c.2198C= (p.Pro733=) c.*28+1807C= (n.*28+1807C=) c.2063C= (p.Pro688=) c.1397C= (p.Pro466=) | |
7 | g.55174735C>G | CA367583993 | EGFR | c.2039C>G (p.Pro680Arg) c.547C>G c.2198C>G (p.Pro733Arg) c.*28+1807C>G (n.*28+1807C>G) c.2063C>G (p.Pro688Arg) c.1397C>G (p.Pro466Arg) | dbSNP |
7 | g.55174735C>T | CA16602538 | EGFR | c.2039C>T (p.Pro680Leu) c.547C>T c.2198C>T (p.Pro733Leu) c.*28+1807C>T (n.*28+1807C>T) c.2063C>T (p.Pro688Leu) c.1397C>T (p.Pro466Leu) | ClinVar dbSNP COSMIC |
7 | g.55174736A>C | CA454979284 | EGFR | c.2040A>C (p.Pro680=) c.548A>C c.2199A>C (p.Pro733=) c.*28+1808A>C (n.*28+1808A>C) c.2064A>C (p.Pro688=) c.1398A>C (p.Pro466=) | |
7 | g.55174736A>G | CA454979285 | EGFR | c.2040A>G (p.Pro680=) c.548A>G c.2199A>G (p.Pro733=) c.*28+1808A>G (n.*28+1808A>G) c.2064A>G (p.Pro688=) c.1398A>G (p.Pro466=) | dbSNP |
7 | g.55174736A>T | CA454979287 | EGFR | c.2040A>T (p.Pro680=) c.548A>T c.2199A>T (p.Pro733=) c.*28+1808A>T (n.*28+1808A>T) c.2064A>T (p.Pro688=) c.1398A>T (p.Pro466=) | dbSNP |
7 | g.55174737G>A | CA16602539 | EGFR | c.2041G>A (p.Glu681Lys) c.549G>A c.2200G>A (p.Glu734Lys) c.*28+1809G>A (n.*28+1809G>A) c.2065G>A (p.Glu689Lys) c.1399G>A (p.Glu467Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.55174737G>C | CA367583997 | EGFR | c.2041G>C (p.Glu681Gln) c.549G>C c.2200G>C (p.Glu734Gln) c.*28+1809G>C (n.*28+1809G>C) c.2065G>C (p.Glu689Gln) c.1399G>C (p.Glu467Gln) | COSMIC |
7 | g.55174737G= | CA1708918288 | EGFR | c.2041G= (p.Glu681=) c.549G= c.2200G= (p.Glu734=) c.*28+1809G= (n.*28+1809G=) c.2065G= (p.Glu689=) c.1399G= (p.Glu467=) | |
7 | g.55174737G>T | CA367583999 | EGFR | c.2041G>T (p.Glu681Ter) c.549G>T c.2200G>T (p.Glu734Ter) c.*28+1809G>T (n.*28+1809G>T) c.2065G>T (p.Glu689Ter) c.1399G>T (p.Glu467Ter) | |
7 | g.55174738A>C | CA367584001 | EGFR | c.2042A>C (p.Glu681Ala) c.550A>C c.2201A>C (p.Glu734Ala) c.*28+1810A>C (n.*28+1810A>C) c.2066A>C (p.Glu689Ala) c.1400A>C (p.Glu467Ala) | dbSNP |
7 | g.55174738A>G | CA367584003 | EGFR | c.2042A>G (p.Glu681Gly) c.550A>G c.2201A>G (p.Glu734Gly) c.*28+1810A>G (n.*28+1810A>G) c.2066A>G (p.Glu689Gly) c.1400A>G (p.Glu467Gly) | COSMIC |
7 | g.55174738A>T | CA367584005 | EGFR | c.2042A>T (p.Glu681Val) c.550A>T c.2201A>T (p.Glu734Val) c.*28+1810A>T (n.*28+1810A>T) c.2066A>T (p.Glu689Val) c.1400A>T (p.Glu467Val) | dbSNP |
7 | g.55174739A>C | CA367584007 | EGFR | c.2043A>C (p.Glu681Asp) c.551A>C c.2202A>C (p.Glu734Asp) c.*28+1811A>C (n.*28+1811A>C) c.2067A>C (p.Glu689Asp) c.1401A>C (p.Glu467Asp) | |
7 | g.55174739A>G | CA454979297 | EGFR | c.2043A>G (p.Glu681=) c.551A>G c.2202A>G (p.Glu734=) c.*28+1811A>G (n.*28+1811A>G) c.2067A>G (p.Glu689=) c.1401A>G (p.Glu467=) | gnomAD v4 |
7 | g.55174739A>T | CA367584008 | EGFR | c.2043A>T (p.Glu681Asp) c.551A>T c.2202A>T (p.Glu734Asp) c.*28+1811A>T (n.*28+1811A>T) c.2067A>T (p.Glu689Asp) c.1401A>T (p.Glu467Asp) | dbSNP |
7 | g.55174740G>A | CA16602540 | EGFR | c.2044G>A (p.Gly682Ser) c.552G>A c.2203G>A (p.Gly735Ser) c.*28+1812G>A (n.*28+1812G>A) c.2068G>A (p.Gly690Ser) c.1402G>A (p.Gly468Ser) | ClinVar dbSNP COSMIC |
7 | g.55174740G>C | CA367584012 | EGFR | c.2044G>C (p.Gly682Arg) c.552G>C c.2203G>C (p.Gly735Arg) c.*28+1812G>C (n.*28+1812G>C) c.2068G>C (p.Gly690Arg) c.1402G>C (p.Gly468Arg) | |
7 | g.55174740G= | CA1708918289 | EGFR | c.2044G= (p.Gly682=) c.552G= c.2203G= (p.Gly735=) c.*28+1812G= (n.*28+1812G=) c.2068G= (p.Gly690=) c.1402G= (p.Gly468=) | |
7 | g.55174740G>T | CA367584013 | EGFR | c.2044G>T (p.Gly682Cys) c.552G>T c.2203G>T (p.Gly735Cys) c.*28+1812G>T (n.*28+1812G>T) c.2068G>T (p.Gly690Cys) c.1402G>T (p.Gly468Cys) | |
7 | g.55174741G>A | CA367584019 | EGFR | c.2045G>A (p.Gly682Asp) c.553G>A c.2204G>A (p.Gly735Asp) c.*28+1813G>A (n.*28+1813G>A) c.2069G>A (p.Gly690Asp) c.1403G>A (p.Gly468Asp) | dbSNP |