Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55174718A= | CA1708918278 | EGFR | c.2026-4A= (n.2026-4A=) c.534-4A= c.2185-4A= (n.2185-4A=) c.*28+1790A= (n.*28+1790A=) c.2050-4A= (n.2050-4A=) c.1384-4A= (n.1384-4A=) | |
7 | g.55174718A>C | CA2682854890 | EGFR | c.2026-4A>C (n.2026-4A>C) c.534-4A>C c.2185-4A>C (n.2185-4A>C) c.*28+1790A>C (n.*28+1790A>C) c.2050-4A>C (n.2050-4A>C) c.1384-4A>C (n.1384-4A>C) | gnomAD v4 |
7 | g.55174718A>G | CA158932430 | EGFR | c.2026-4A>G (n.2026-4A>G) c.534-4A>G c.2185-4A>G (n.2185-4A>G) c.*28+1790A>G (n.*28+1790A>G) c.2050-4A>G (n.2050-4A>G) c.1384-4A>G (n.1384-4A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.55174718A>T | CA2714516046 | EGFR | c.2026-4A>T (n.2026-4A>T) c.534-4A>T c.2185-4A>T (n.2185-4A>T) c.*28+1790A>T (n.*28+1790A>T) c.2050-4A>T (n.2050-4A>T) c.1384-4A>T (n.1384-4A>T) | dbSNP |
7 | g.55174719T>A | CA2714517213 | EGFR | c.2026-3T>A (n.2026-3T>A) c.534-3T>A c.2185-3T>A (n.2185-3T>A) c.*28+1791T>A (n.*28+1791T>A) c.2050-3T>A (n.2050-3T>A) c.1384-3T>A (n.1384-3T>A) | dbSNP |
7 | g.55174719T>C | CA158932433 | EGFR | c.2026-3T>C (n.2026-3T>C) c.534-3T>C c.2185-3T>C (n.2185-3T>C) c.*28+1791T>C (n.*28+1791T>C) c.2050-3T>C (n.2050-3T>C) c.1384-3T>C (n.1384-3T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55174719T>G | CA2714517214 | EGFR | c.2026-3T>G (n.2026-3T>G) c.534-3T>G c.2185-3T>G (n.2185-3T>G) c.*28+1791T>G (n.*28+1791T>G) c.2050-3T>G (n.2050-3T>G) c.1384-3T>G (n.1384-3T>G) | dbSNP |
7 | g.55174719T= | CA1708918279 | EGFR | c.2026-3T= (n.2026-3T=) c.534-3T= c.2185-3T= (n.2185-3T=) c.*28+1791T= (n.*28+1791T=) c.2050-3T= (n.2050-3T=) c.1384-3T= (n.1384-3T=) | |
7 | g.55174719dup | CA2682854891 | EGFR | c.2026-3dup (n.2026-3dup) c.534-3dup c.2185-3dup (n.2185-3dup) c.*28+1791dup (n.*28+1791dup) c.2050-3dup (n.2050-3dup) c.1384-3dup (n.1384-3dup) | gnomAD v4 |
7 | g.55174720A= | CA1708918280 | EGFR | c.2026-2A= (n.2026-2A=) c.534-2A= c.2185-2A= (n.2185-2A=) c.*28+1792A= (n.*28+1792A=) c.2050-2A= (n.2050-2A=) c.1384-2A= (n.1384-2A=) | |
7 | g.55174720A>C | CA367583926 | EGFR | c.2026-2A>C (n.2026-2A>C) c.534-2A>C c.2185-2A>C (n.2185-2A>C) c.*28+1792A>C (n.*28+1792A>C) c.2050-2A>C (n.2050-2A>C) c.1384-2A>C (n.1384-2A>C) | |
7 | g.55174720A>G | CA4266009 | EGFR | c.2026-2A>G (n.2026-2A>G) c.534-2A>G c.2185-2A>G (n.2185-2A>G) c.*28+1792A>G (n.*28+1792A>G) c.2050-2A>G (n.2050-2A>G) c.1384-2A>G (n.1384-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.55174720A>T | CA367583927 | EGFR | c.2026-2A>T (n.2026-2A>T) c.534-2A>T c.2185-2A>T (n.2185-2A>T) c.*28+1792A>T (n.*28+1792A>T) c.2050-2A>T (n.2050-2A>T) c.1384-2A>T (n.1384-2A>T) | dbSNP |
7 | g.55174721G>A | CA367583933 | EGFR | c.2026-1G>A (n.2026-1G>A) c.534-1G>A c.2185-1G>A (n.2185-1G>A) c.*28+1793G>A (n.*28+1793G>A) c.2050-1G>A (n.2050-1G>A) c.1384-1G>A (n.1384-1G>A) | dbSNP |
7 | g.55174721G>C | CA367583932 | EGFR | c.2026-1G>C (n.2026-1G>C) c.534-1G>C c.2185-1G>C (n.2185-1G>C) c.*28+1793G>C (n.*28+1793G>C) c.2050-1G>C (n.2050-1G>C) c.1384-1G>C (n.1384-1G>C) | dbSNP |
7 | g.55174721G>T | CA367583930 | EGFR | c.2026-1G>T (n.2026-1G>T) c.534-1G>T c.2185-1G>T (n.2185-1G>T) c.*28+1793G>T (n.*28+1793G>T) c.2050-1G>T (n.2050-1G>T) c.1384-1G>T (n.1384-1G>T) | dbSNP |
7 | g.55174722G>A | CA367583939 | EGFR | c.2026G>A (p.Gly676Arg) c.534G>A c.2185G>A (p.Gly729Arg) c.*28+1794G>A (n.*28+1794G>A) c.2050G>A (p.Gly684Arg) c.1384G>A (p.Gly462Arg) | |
7 | g.55174722G>C | CA367583936 | EGFR | c.2026G>C (p.Gly676Arg) c.534G>C c.2185G>C (p.Gly729Arg) c.*28+1794G>C (n.*28+1794G>C) c.2050G>C (p.Gly684Arg) c.1384G>C (p.Gly462Arg) | |
7 | g.55174722G>T | CA367583938 | EGFR | c.2026G>T (p.Gly676Ter) c.534G>T c.2185G>T (p.Gly729Ter) c.*28+1794G>T (n.*28+1794G>T) c.2050G>T (p.Gly684Ter) c.1384G>T (p.Gly462Ter) | |
7 | g.55174723G>A | CA367583942 | EGFR | c.2027G>A (p.Gly676Glu) c.535G>A c.2186G>A (p.Gly729Glu) c.*28+1795G>A (n.*28+1795G>A) c.2051G>A (p.Gly684Glu) c.1385G>A (p.Gly462Glu) | dbSNP COSMIC |
7 | g.55174723G>C | CA367583944 | EGFR | c.2027G>C (p.Gly676Ala) c.535G>C c.2186G>C (p.Gly729Ala) c.*28+1795G>C (n.*28+1795G>C) c.2051G>C (p.Gly684Ala) c.1385G>C (p.Gly462Ala) | dbSNP |
7 | g.55174723G>T | CA367583945 | EGFR | c.2027G>T (p.Gly676Val) c.535G>T c.2186G>T (p.Gly729Val) c.*28+1795G>T (n.*28+1795G>T) c.2051G>T (p.Gly684Val) c.1385G>T (p.Gly462Val) | dbSNP gnomAD v4 |
7 | g.55174724A>C | CA454979242 | EGFR | c.2028A>C (p.Gly676=) c.536A>C c.2187A>C (p.Gly729=) c.*28+1796A>C (n.*28+1796A>C) c.2052A>C (p.Gly684=) c.1386A>C (p.Gly462=) | |
7 | g.55174724A>G | CA454979240 | EGFR | c.2028A>G (p.Gly676=) c.536A>G c.2187A>G (p.Gly729=) c.*28+1796A>G (n.*28+1796A>G) c.2052A>G (p.Gly684=) c.1386A>G (p.Gly462=) | |
7 | g.55174724A>T | CA454979238 | EGFR | c.2028A>T (p.Gly676=) c.536A>T c.2187A>T (p.Gly729=) c.*28+1796A>T (n.*28+1796A>T) c.2052A>T (p.Gly684=) c.1386A>T (p.Gly462=) | ClinVar dbSNP |
7 | g.55174725C>A | CA367583948 | EGFR | c.2029C>A (p.Leu677Ile) c.537C>A c.2188C>A (p.Leu730Ile) c.*28+1797C>A (n.*28+1797C>A) c.2053C>A (p.Leu685Ile) c.1387C>A (p.Leu463Ile) | |
7 | g.55174725C= | CA1708918281 | EGFR | c.2029C= (p.Leu677=) c.537C= c.2188C= (p.Leu730=) c.*28+1797C= (n.*28+1797C=) c.2053C= (p.Leu685=) c.1387C= (p.Leu463=) | |
7 | g.55174725C>G | CA151172 | EGFR | c.2029C>G (p.Leu677Val) c.537C>G c.2188C>G (p.Leu730Val) c.*28+1797C>G (n.*28+1797C>G) c.2053C>G (p.Leu685Val) c.1387C>G (p.Leu463Val) | ClinVar dbSNP |
7 | g.55174725C>T | CA158932443 | EGFR | c.2029C>T (p.Leu677Phe) c.537C>T c.2188C>T (p.Leu730Phe) c.*28+1797C>T (n.*28+1797C>T) c.2053C>T (p.Leu685Phe) c.1387C>T (p.Leu463Phe) | dbSNP COSMIC |
7 | g.55174726T>A | CA367583952 | EGFR | c.2030T>A (p.Leu677His) c.538T>A c.2189T>A (p.Leu730His) c.*28+1798T>A (n.*28+1798T>A) c.2054T>A (p.Leu685His) c.1388T>A (p.Leu463His) | dbSNP |
7 | g.55174726T>C | CA4266011 | EGFR | c.2030T>C (p.Leu677Pro) c.538T>C c.2189T>C (p.Leu730Pro) c.*28+1798T>C (n.*28+1798T>C) c.2054T>C (p.Leu685Pro) c.1388T>C (p.Leu463Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.55174726T>G | CA4266010 | EGFR | c.2030T>G (p.Leu677Arg) c.538T>G c.2189T>G (p.Leu730Arg) c.*28+1798T>G (n.*28+1798T>G) c.2054T>G (p.Leu685Arg) c.1388T>G (p.Leu463Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.55174726T= | CA1708918282 | EGFR | c.2030T= (p.Leu677=) c.538T= c.2189T= (p.Leu730=) c.*28+1798T= (n.*28+1798T=) c.2054T= (p.Leu685=) c.1388T= (p.Leu463=) | |
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 |