Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55181344_55181351del | CA891842019 | EGFR,EGFR-AS1 | c.2176_2183del (p.Gly726ProfsTer?) c.684_691del c.2335_2342del (p.Gly779ProfsTer?) c.*28+8416_*28+8423del (n.*28+8416_*28+8423del) c.2200_2207del (p.Gly734ProfsTer?) n.1223_1230del c.1534_1541del (p.Gly512ProfsTer?) | |
7 | g.55181351G>A | CA367578795 | EGFR,EGFR-AS1 | c.2183G>A (p.Cys728Tyr) c.691G>A c.2342G>A (p.Cys781Tyr) c.*28+8423G>A (n.*28+8423G>A) c.2207G>A (p.Cys736Tyr) n.1220C>T c.1541G>A (p.Cys514Tyr) | dbSNP gnomAD v4 |
7 | g.55181351G>C | CA367578796 | EGFR,EGFR-AS1 | c.2183G>C (p.Cys728Ser) c.691G>C c.2342G>C (p.Cys781Ser) c.*28+8423G>C (n.*28+8423G>C) c.2207G>C (p.Cys736Ser) n.1220C>G c.1541G>C (p.Cys514Ser) | dbSNP |
7 | g.55181351G>T | CA367578797 | EGFR,EGFR-AS1 | c.2183G>T (p.Cys728Phe) c.691G>T c.2342G>T (p.Cys781Phe) c.*28+8423G>T (n.*28+8423G>T) c.2207G>T (p.Cys736Phe) n.1220C>A c.1541G>T (p.Cys514Phe) | COSMIC |
7 | g.55181352C>A | CA367578798 | EGFR,EGFR-AS1 | c.2184C>A (p.Cys728Ter) c.692C>A c.2343C>A (p.Cys781Ter) c.*28+8424C>A (n.*28+8424C>A) c.2208C>A (p.Cys736Ter) n.1219G>T c.1542C>A (p.Cys514Ter) | dbSNP |
7 | g.55181352C>G | CA367578799 | EGFR,EGFR-AS1 | c.2184C>G (p.Cys728Trp) c.692C>G c.2343C>G (p.Cys781Trp) c.*28+8424C>G (n.*28+8424C>G) c.2208C>G (p.Cys736Trp) n.1219G>C c.1542C>G (p.Cys514Trp) | dbSNP |
7 | g.55181352C>T | CA455165127 | EGFR,EGFR-AS1 | c.2184C>T (p.Cys728=) c.692C>T c.2343C>T (p.Cys781=) c.*28+8424C>T (n.*28+8424C>T) c.2208C>T (p.Cys736=) n.1219G>A c.1542C>T (p.Cys514=) | dbSNP |
7 | g.55181353C>A | CA367578800 | EGFR,EGFR-AS1 | c.2185C>A (p.Leu729Ile) c.693C>A c.2344C>A (p.Leu782Ile) c.*28+8425C>A (n.*28+8425C>A) c.2209C>A (p.Leu737Ile) n.1218G>T c.1543C>A (p.Leu515Ile) | dbSNP |
7 | g.55181353C>G | CA367578801 | EGFR,EGFR-AS1 | c.2185C>G (p.Leu729Val) c.693C>G c.2344C>G (p.Leu782Val) c.*28+8425C>G (n.*28+8425C>G) c.2209C>G (p.Leu737Val) n.1218G>C c.1543C>G (p.Leu515Val) | |
7 | g.55181353C>T | CA367578802 | EGFR,EGFR-AS1 | c.2185C>T (p.Leu729Phe) c.693C>T c.2344C>T (p.Leu782Phe) c.*28+8425C>T (n.*28+8425C>T) c.2209C>T (p.Leu737Phe) n.1218G>A c.1543C>T (p.Leu515Phe) | dbSNP |
7 | g.55181353_55181354delinsAA | CA645561608 | EGFR,EGFR-AS1 | c.2185_2186delinsAA (p.Leu729Asn) c.693_694delinsAA c.2344_2345delinsAA (p.Leu782Asn) c.*28+8425_*28+8426delinsAA (n.*28+8425_*28+8426delinsAA) c.2209_2210delinsAA (p.Leu737Asn) n.1217_1218delinsTT c.1543_1544delinsAA (p.Leu515Asn) | COSMIC |
7 | g.55181354T>A | CA367578805 | EGFR,EGFR-AS1 | c.2186T>A (p.Leu729His) c.694T>A c.2345T>A (p.Leu782His) c.*28+8426T>A (n.*28+8426T>A) c.2210T>A (p.Leu737His) n.1217A>T c.1544T>A (p.Leu515His) | |
7 | g.55181354T>C | CA367578803 | EGFR,EGFR-AS1 | c.2186T>C (p.Leu729Pro) c.694T>C c.2345T>C (p.Leu782Pro) c.*28+8426T>C (n.*28+8426T>C) c.2210T>C (p.Leu737Pro) n.1217A>G c.1544T>C (p.Leu515Pro) | |
7 | g.55181354T>G | CA367578804 | EGFR,EGFR-AS1 | c.2186T>G (p.Leu729Arg) c.694T>G c.2345T>G (p.Leu782Arg) c.*28+8426T>G (n.*28+8426T>G) c.2210T>G (p.Leu737Arg) n.1217A>C c.1544T>G (p.Leu515Arg) | |
7 | g.55181355C>A | CA455165130 | EGFR,EGFR-AS1 | c.2187C>A (p.Leu729=) c.695C>A c.2346C>A (p.Leu782=) c.*28+8427C>A (n.*28+8427C>A) c.2211C>A (p.Leu737=) n.1216G>T c.1545C>A (p.Leu515=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.55181355C= | CA1708905395 | EGFR,EGFR-AS1 | c.2187C= (p.Leu729=) c.695C= c.2346C= (p.Leu782=) c.*28+8427C= (n.*28+8427C=) c.2211C= (p.Leu737=) n.1216G= c.1545C= (p.Leu515=) | |
7 | g.55181355C>G | CA455165132 | EGFR,EGFR-AS1 | c.2187C>G (p.Leu729=) c.695C>G c.2346C>G (p.Leu782=) c.*28+8427C>G (n.*28+8427C>G) c.2211C>G (p.Leu737=) n.1216G>C c.1545C>G (p.Leu515=) | dbSNP gnomAD v4 |
7 | g.55181355C>T | CA455165133 | EGFR,EGFR-AS1 | c.2187C>T (p.Leu729=) c.695C>T c.2346C>T (p.Leu782=) c.*28+8427C>T (n.*28+8427C>T) c.2211C>T (p.Leu737=) n.1216G>A c.1545C>T (p.Leu515=) | ClinVar dbSNP gnomAD v4 |
7 | g.55181356A>C | CA367578806 | EGFR,EGFR-AS1 | c.2188A>C (p.Thr730Pro) c.696A>C c.2347A>C (p.Thr783Pro) c.*28+8428A>C (n.*28+8428A>C) c.2212A>C (p.Thr738Pro) n.1215T>G c.1546A>C (p.Thr516Pro) | dbSNP |
7 | g.55181356A>G | CA367578807 | EGFR,EGFR-AS1 | c.2188A>G (p.Thr730Ala) c.696A>G c.2347A>G (p.Thr783Ala) c.*28+8428A>G (n.*28+8428A>G) c.2212A>G (p.Thr738Ala) n.1215T>C c.1546A>G (p.Thr516Ala) | dbSNP |
7 | g.55181356A>T | CA367578808 | EGFR,EGFR-AS1 | c.2188A>T (p.Thr730Ser) c.696A>T c.2347A>T (p.Thr783Ser) c.*28+8428A>T (n.*28+8428A>T) c.2212A>T (p.Thr738Ser) n.1215T>A c.1546A>T (p.Thr516Ser) | dbSNP |
7 | g.55181357C>A | CA367578809 | EGFR,EGFR-AS1 | c.2189C>A (p.Thr730Asn) c.697C>A c.2348C>A (p.Thr783Asn) c.*28+8429C>A (n.*28+8429C>A) c.2213C>A (p.Thr738Asn) n.1214G>T c.1547C>A (p.Thr516Asn) | dbSNP |
7 | g.55181357C>G | CA367578810 | EGFR,EGFR-AS1 | c.2189C>G (p.Thr730Ser) c.697C>G c.2348C>G (p.Thr783Ser) c.*28+8429C>G (n.*28+8429C>G) c.2213C>G (p.Thr738Ser) n.1214G>C c.1547C>G (p.Thr516Ser) | dbSNP |
7 | g.55181357C>T | CA367578811 | EGFR,EGFR-AS1 | c.2189C>T (p.Thr730Ile) c.697C>T c.2348C>T (p.Thr783Ile) c.*28+8429C>T (n.*28+8429C>T) c.2213C>T (p.Thr738Ile) n.1214G>A c.1547C>T (p.Thr516Ile) | dbSNP COSMIC |
7 | g.55181358C>A | CA4266057 | EGFR,EGFR-AS1 | c.2190C>A (p.Thr730=) c.698C>A c.2349C>A (p.Thr783=) c.*28+8430C>A (n.*28+8430C>A) c.2214C>A (p.Thr738=) n.1213G>T c.1548C>A (p.Thr516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.55181358C= | CA1708905403 | EGFR,EGFR-AS1 | c.2190C= (p.Thr730=) c.698C= c.2349C= (p.Thr783=) c.*28+8430C= (n.*28+8430C=) c.2214C= (p.Thr738=) n.1213G= c.1548C= (p.Thr516=) | |
7 | g.55181358C>G | CA455165137 | EGFR,EGFR-AS1 | c.2190C>G (p.Thr730=) c.698C>G c.2349C>G (p.Thr783=) c.*28+8430C>G (n.*28+8430C>G) c.2214C>G (p.Thr738=) n.1213G>C c.1548C>G (p.Thr516=) | dbSNP |
7 | g.55181358C>T | CA135890 | EGFR,EGFR-AS1 | c.2190C>T (p.Thr730=) c.698C>T c.2349C>T (p.Thr783=) c.*28+8430C>T (n.*28+8430C>T) c.2214C>T (p.Thr738=) n.1213G>A c.1548C>T (p.Thr516=) | ClinVar dbSNP gnomAD v4 |
7 | g.55181359T>A | CA367578812 | EGFR,EGFR-AS1 | c.2191T>A (p.Ser731Thr) c.699T>A c.2350T>A (p.Ser784Thr) c.*28+8431T>A (n.*28+8431T>A) c.2215T>A (p.Ser739Thr) n.1212A>T c.1549T>A (p.Ser517Thr) | |
7 | g.55181359T>C | CA367578813 | EGFR,EGFR-AS1 | c.2191T>C (p.Ser731Pro) c.699T>C c.2350T>C (p.Ser784Pro) c.*28+8431T>C (n.*28+8431T>C) c.2215T>C (p.Ser739Pro) n.1212A>G c.1549T>C (p.Ser517Pro) | dbSNP gnomAD v4 COSMIC |
7 | g.55181359T>G | CA367578814 | EGFR,EGFR-AS1 | c.2191T>G (p.Ser731Ala) c.699T>G c.2350T>G (p.Ser784Ala) c.*28+8431T>G (n.*28+8431T>G) c.2215T>G (p.Ser739Ala) n.1212A>C c.1549T>G (p.Ser517Ala) | |
7 | g.55181360C>A | CA367578816 | EGFR,EGFR-AS1 | c.2192C>A (p.Ser731Tyr) c.700C>A c.2351C>A (p.Ser784Tyr) c.*28+8432C>A (n.*28+8432C>A) c.2216C>A (p.Ser739Tyr) n.1211G>T c.1550C>A (p.Ser517Tyr) | dbSNP COSMIC |
7 | g.55181360C= | CA1708905409 | EGFR,EGFR-AS1 | c.2192C= (p.Ser731=) c.700C= c.2351C= (p.Ser784=) c.*28+8432C= (n.*28+8432C=) c.2216C= (p.Ser739=) n.1211G= c.1550C= (p.Ser517=) | |
7 | g.55181360C>G | CA367578817 | EGFR,EGFR-AS1 | c.2192C>G (p.Ser731Cys) c.700C>G c.2351C>G (p.Ser784Cys) c.*28+8432C>G (n.*28+8432C>G) c.2216C>G (p.Ser739Cys) n.1211G>C c.1550C>G (p.Ser517Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55181360C>T | CA367578815 | EGFR,EGFR-AS1 | c.2192C>T (p.Ser731Phe) c.700C>T c.2351C>T (p.Ser784Phe) c.*28+8432C>T (n.*28+8432C>T) c.2216C>T (p.Ser739Phe) n.1211G>A c.1550C>T (p.Ser517Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55181361C>A | CA455165144 | EGFR,EGFR-AS1 | c.2193C>A (p.Ser731=) c.701C>A c.2352C>A (p.Ser784=) c.*28+8433C>A (n.*28+8433C>A) c.2217C>A (p.Ser739=) n.1210G>T c.1551C>A (p.Ser517=) | |
7 | g.55181361C>G | CA455165145 | EGFR,EGFR-AS1 | c.2193C>G (p.Ser731=) c.701C>G c.2352C>G (p.Ser784=) c.*28+8433C>G (n.*28+8433C>G) c.2217C>G (p.Ser739=) n.1210G>C c.1551C>G (p.Ser517=) | dbSNP |
7 | g.55181361C>T | CA455165146 | EGFR,EGFR-AS1 | c.2193C>T (p.Ser731=) c.701C>T c.2352C>T (p.Ser784=) c.*28+8433C>T (n.*28+8433C>T) c.2217C>T (p.Ser739=) n.1210G>A c.1551C>T (p.Ser517=) | ClinVar dbSNP |
7 | g.55181362A>C | CA367578818 | EGFR,EGFR-AS1 | c.2194A>C (p.Thr732Pro) c.702A>C c.2353A>C (p.Thr785Pro) c.*28+8434A>C (n.*28+8434A>C) c.2218A>C (p.Thr740Pro) n.1209T>G c.1552A>C (p.Thr518Pro) | dbSNP COSMIC |
7 | g.55181362A>G | CA367578819 | EGFR,EGFR-AS1 | c.2194A>G (p.Thr732Ala) c.702A>G c.2353A>G (p.Thr785Ala) c.*28+8434A>G (n.*28+8434A>G) c.2218A>G (p.Thr740Ala) n.1209T>C c.1552A>G (p.Thr518Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.55181362A>T | CA367578820 | EGFR,EGFR-AS1 | c.2194A>T (p.Thr732Ser) c.702A>T c.2353A>T (p.Thr785Ser) c.*28+8434A>T (n.*28+8434A>T) c.2218A>T (p.Thr740Ser) n.1209T>A c.1552A>T (p.Thr518Ser) | |
7 | g.55181363C>A | CA367578821 | EGFR,EGFR-AS1 | c.2195C>A (p.Thr732Asn) c.703C>A c.2354C>A (p.Thr785Asn) c.*28+8435C>A (n.*28+8435C>A) c.2219C>A (p.Thr740Asn) n.1208G>T c.1553C>A (p.Thr518Asn) | dbSNP COSMIC |
7 | g.55181363C>G | CA367578822 | EGFR,EGFR-AS1 | c.2195C>G (p.Thr732Ser) c.703C>G c.2354C>G (p.Thr785Ser) c.*28+8435C>G (n.*28+8435C>G) c.2219C>G (p.Thr740Ser) n.1208G>C c.1553C>G (p.Thr518Ser) | dbSNP |
7 | g.55181363C>T | CA367578823 | EGFR,EGFR-AS1 | c.2195C>T (p.Thr732Ile) c.703C>T c.2354C>T (p.Thr785Ile) c.*28+8435C>T (n.*28+8435C>T) c.2219C>T (p.Thr740Ile) n.1208G>A c.1553C>T (p.Thr518Ile) | dbSNP COSMIC |
7 | g.55181364C>A | CA455165150 | EGFR,EGFR-AS1 | c.2196C>A (p.Thr732=) c.704C>A c.2355C>A (p.Thr785=) c.*28+8436C>A (n.*28+8436C>A) c.2220C>A (p.Thr740=) n.1207G>T c.1554C>A (p.Thr518=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.55181364C= | CA1708905414 | EGFR,EGFR-AS1 | c.2196C= (p.Thr732=) c.704C= c.2355C= (p.Thr785=) c.*28+8436C= (n.*28+8436C=) c.2220C= (p.Thr740=) n.1207G= c.1554C= (p.Thr518=) | |
7 | g.55181364C>G | CA455165151 | EGFR,EGFR-AS1 | c.2196C>G (p.Thr732=) c.704C>G c.2355C>G (p.Thr785=) c.*28+8436C>G (n.*28+8436C>G) c.2220C>G (p.Thr740=) n.1207G>C c.1554C>G (p.Thr518=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.55181364C>T | CA135893 | EGFR,EGFR-AS1 | c.2196C>T (p.Thr732=) c.704C>T c.2355C>T (p.Thr785=) c.*28+8436C>T (n.*28+8436C>T) c.2220C>T (p.Thr740=) n.1207G>A c.1554C>T (p.Thr518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55181365G>A | CA4266058 | EGFR,EGFR-AS1 | c.2197G>A (p.Val733Met) c.705G>A c.2356G>A (p.Val786Met) c.*28+8437G>A (n.*28+8437G>A) c.2221G>A (p.Val741Met) n.1206C>T c.1555G>A (p.Val519Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55181365G>C | CA367578825 | EGFR,EGFR-AS1 | c.2197G>C (p.Val733Leu) c.705G>C c.2356G>C (p.Val786Leu) c.*28+8437G>C (n.*28+8437G>C) c.2221G>C (p.Val741Leu) n.1206C>G c.1555G>C (p.Val519Leu) | dbSNP gnomAD v2 |