Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55181376_55181387dup | CA2697557280 | EGFR,EGFR-AS1 | c.2208_2219dup (p.Leu739_Met740insIleThrGlnLeu) c.716_727dup c.2367_2378dup (p.Leu792_Met793insIleThrGlnLeu) c.*28+8448_*28+8459dup (n.*28+8448_*28+8459dup) c.2232_2243dup (p.Leu747_Met748insIleThrGlnLeu) n.1193_1204dup c.1566_1577dup (p.Leu525_Met526insIleThrGlnLeu) | ClinVar |
7 | g.55181378C>A | CA367578852 | EGFR,EGFR-AS1 | c.2210C>A (p.Thr737Lys) c.718C>A c.2369C>A (p.Thr790Lys) c.*28+8450C>A (n.*28+8450C>A) c.2234C>A (p.Thr745Lys) n.1193G>T c.1568C>A (p.Thr523Lys) | gnomAD v4 |
7 | g.55181378C= | CA1708905489 | EGFR,EGFR-AS1 | c.2210C= (p.Thr737=) c.718C= c.2369C= (p.Thr790=) c.*28+8450C= (n.*28+8450C=) c.2234C= (p.Thr745=) n.1193G= c.1568C= (p.Thr523=) | |
7 | g.55181378C>G | CA367578853 | EGFR,EGFR-AS1 | c.2210C>G (p.Thr737Arg) c.718C>G c.2369C>G (p.Thr790Arg) c.*28+8450C>G (n.*28+8450C>G) c.2234C>G (p.Thr745Arg) n.1193G>C c.1568C>G (p.Thr523Arg) | |
7 | g.55181378C>T | CA090928 | EGFR,EGFR-AS1 | c.2210C>T (p.Thr737Met) c.718C>T c.2369C>T (p.Thr790Met) c.*28+8450C>T (n.*28+8450C>T) c.2234C>T (p.Thr745Met) n.1193G>A c.1568C>T (p.Thr523Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55181379G>A | CA4266062 | EGFR,EGFR-AS1 | c.2211G>A (p.Thr737=) c.719G>A c.2370G>A (p.Thr790=) c.*28+8451G>A (n.*28+8451G>A) c.2235G>A (p.Thr745=) n.1192C>T c.1569G>A (p.Thr523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.55181379G>C | CA455165167 | EGFR,EGFR-AS1 | c.2211G>C (p.Thr737=) c.719G>C c.2370G>C (p.Thr790=) c.*28+8451G>C (n.*28+8451G>C) c.2235G>C (p.Thr745=) n.1192C>G c.1569G>C (p.Thr523=) | dbSNP |
7 | g.55181379G= | CA1708905494 | EGFR,EGFR-AS1 | c.2211G= (p.Thr737=) c.719G= c.2370G= (p.Thr790=) c.*28+8451G= (n.*28+8451G=) c.2235G= (p.Thr745=) n.1192C= c.1569G= (p.Thr523=) | |
7 | g.55181379G>T | CA455165168 | EGFR,EGFR-AS1 | c.2211G>T (p.Thr737=) c.719G>T c.2370G>T (p.Thr790=) c.*28+8451G>T (n.*28+8451G>T) c.2235G>T (p.Thr745=) n.1192C>A c.1569G>T (p.Thr523=) | ClinVar dbSNP |
7 | g.55181380C>A | CA367578856 | EGFR,EGFR-AS1 | c.2212C>A (p.Gln738Lys) c.720C>A c.2371C>A (p.Gln791Lys) c.*28+8452C>A (n.*28+8452C>A) c.2236C>A (p.Gln746Lys) n.1191G>T c.1570C>A (p.Gln524Lys) | gnomAD v4 |
7 | g.55181380C>G | CA367578855 | EGFR,EGFR-AS1 | c.2212C>G (p.Gln738Glu) c.720C>G c.2371C>G (p.Gln791Glu) c.*28+8452C>G (n.*28+8452C>G) c.2236C>G (p.Gln746Glu) n.1191G>C c.1570C>G (p.Gln524Glu) | dbSNP |
7 | g.55181380C>T | CA367578854 | EGFR,EGFR-AS1 | c.2212C>T (p.Gln738Ter) c.720C>T c.2371C>T (p.Gln791Ter) c.*28+8452C>T (n.*28+8452C>T) c.2236C>T (p.Gln746Ter) n.1191G>A c.1570C>T (p.Gln524Ter) | ClinVar dbSNP |
7 | g.55181381A>C | CA367578857 | EGFR,EGFR-AS1 | c.2213A>C (p.Gln738Pro) c.721A>C c.2372A>C (p.Gln791Pro) c.*28+8453A>C (n.*28+8453A>C) c.2237A>C (p.Gln746Pro) n.1190T>G c.1571A>C (p.Gln524Pro) | dbSNP |
7 | g.55181381A>G | CA367578858 | EGFR,EGFR-AS1 | c.2213A>G (p.Gln738Arg) c.721A>G c.2372A>G (p.Gln791Arg) c.*28+8453A>G (n.*28+8453A>G) c.2237A>G (p.Gln746Arg) n.1190T>C c.1571A>G (p.Gln524Arg) | gnomAD v4 |
7 | g.55181381A>T | CA367578859 | EGFR,EGFR-AS1 | c.2213A>T (p.Gln738Leu) c.721A>T c.2372A>T (p.Gln791Leu) c.*28+8453A>T (n.*28+8453A>T) c.2237A>T (p.Gln746Leu) n.1190T>A c.1571A>T (p.Gln524Leu) | dbSNP |
7 | g.55181382del | CA455165173 | EGFR,EGFR-AS1 | c.2214del (p.Gln738HisfsTer?) c.722del c.2373del (p.Gln791HisfsTer?) c.*28+8454del (n.*28+8454del) c.2238del (p.Gln746HisfsTer?) n.1189del c.1572del (p.Gln524HisfsTer?) | COSMIC |
7 | g.55181382G>A | CA455165172 | EGFR,EGFR-AS1 | c.2214G>A (p.Gln738=) c.722G>A c.2373G>A (p.Gln791=) c.*28+8454G>A (n.*28+8454G>A) c.2238G>A (p.Gln746=) n.1189C>T c.1572G>A (p.Gln524=) | dbSNP gnomAD v4 |
7 | g.55181382G>C | CA367578860 | EGFR,EGFR-AS1 | c.2214G>C (p.Gln738His) c.722G>C c.2373G>C (p.Gln791His) c.*28+8454G>C (n.*28+8454G>C) c.2238G>C (p.Gln746His) n.1189C>G c.1572G>C (p.Gln524His) | dbSNP |
7 | g.55181382G= | CA1708905501 | EGFR,EGFR-AS1 | c.2214G= (p.Gln738=) c.722G= c.2373G= (p.Gln791=) c.*28+8454G= (n.*28+8454G=) c.2238G= (p.Gln746=) n.1189C= c.1572G= (p.Gln524=) | |
7 | g.55181382G>T | CA367578861 | EGFR,EGFR-AS1 | c.2214G>T (p.Gln738His) c.722G>T c.2373G>T (p.Gln791His) c.*28+8454G>T (n.*28+8454G>T) c.2238G>T (p.Gln746His) n.1189C>A c.1572G>T (p.Gln524His) | ClinVar dbSNP gnomAD v2 |
7 | g.55181383C>A | CA367578862 | EGFR,EGFR-AS1 | c.2215C>A (p.Leu739Ile) c.723C>A c.2374C>A (p.Leu792Ile) c.*28+8455C>A (n.*28+8455C>A) c.2239C>A (p.Leu747Ile) n.1188G>T c.1573C>A (p.Leu525Ile) | dbSNP |
7 | g.55181383C>G | CA367578863 | EGFR,EGFR-AS1 | c.2215C>G (p.Leu739Val) c.723C>G c.2374C>G (p.Leu792Val) c.*28+8455C>G (n.*28+8455C>G) c.2239C>G (p.Leu747Val) n.1188G>C c.1573C>G (p.Leu525Val) | dbSNP |
7 | g.55181383C>T | CA367578864 | EGFR,EGFR-AS1 | c.2215C>T (p.Leu739Phe) c.723C>T c.2374C>T (p.Leu792Phe) c.*28+8455C>T (n.*28+8455C>T) c.2239C>T (p.Leu747Phe) n.1188G>A c.1573C>T (p.Leu525Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.55181383_55181384delinsTA | CA2714937418 | EGFR,EGFR-AS1 | c.2215_2216delinsTA (p.Leu739Tyr) c.723_724delinsTA c.2374_2375delinsTA (p.Leu792Tyr) c.*28+8455_*28+8456delinsTA (n.*28+8455_*28+8456delinsTA) c.2239_2240delinsTA (p.Leu747Tyr) n.1187_1188delinsTA c.1573_1574delinsTA (p.Leu525Tyr) | dbSNP |
7 | g.55181384T>A | CA367578865 | EGFR,EGFR-AS1 | c.2216T>A (p.Leu739His) c.724T>A c.2375T>A (p.Leu792His) c.*28+8456T>A (n.*28+8456T>A) c.2240T>A (p.Leu747His) n.1187A>T c.1574T>A (p.Leu525His) | dbSNP |
7 | g.55181384T>C | CA367578866 | EGFR,EGFR-AS1 | c.2216T>C (p.Leu739Pro) c.724T>C c.2375T>C (p.Leu792Pro) c.*28+8456T>C (n.*28+8456T>C) c.2240T>C (p.Leu747Pro) n.1187A>G c.1574T>C (p.Leu525Pro) | dbSNP COSMIC |
7 | g.55181384T>G | CA367578867 | EGFR,EGFR-AS1 | c.2216T>G (p.Leu739Arg) c.724T>G c.2375T>G (p.Leu792Arg) c.*28+8456T>G (n.*28+8456T>G) c.2240T>G (p.Leu747Arg) n.1187A>C c.1574T>G (p.Leu525Arg) | dbSNP |
7 | g.55181385C>A | CA455165176 | EGFR,EGFR-AS1 | c.2217C>A (p.Leu739=) c.725C>A c.2376C>A (p.Leu792=) c.*28+8457C>A (n.*28+8457C>A) c.2241C>A (p.Leu747=) n.1186G>T c.1575C>A (p.Leu525=) | dbSNP |
7 | g.55181385C>G | CA455165177 | EGFR,EGFR-AS1 | c.2217C>G (p.Leu739=) c.725C>G c.2376C>G (p.Leu792=) c.*28+8457C>G (n.*28+8457C>G) c.2241C>G (p.Leu747=) n.1186G>C c.1575C>G (p.Leu525=) | COSMIC |
7 | g.55181385C>T | CA455165178 | EGFR,EGFR-AS1 | c.2217C>T (p.Leu739=) c.725C>T c.2376C>T (p.Leu792=) c.*28+8457C>T (n.*28+8457C>T) c.2241C>T (p.Leu747=) n.1186G>A c.1575C>T (p.Leu525=) | dbSNP |
7 | g.55181386A= | CA1708905509 | EGFR,EGFR-AS1 | c.2218A= (p.Met740=) c.726A= c.2377A= (p.Met793=) c.*28+8458A= (n.*28+8458A=) c.2242A= (p.Met748=) n.1185T= c.1576A= (p.Met526=) | |
7 | g.55181386A>C | CA367578868 | EGFR,EGFR-AS1 | c.2218A>C (p.Met740Leu) c.726A>C c.2377A>C (p.Met793Leu) c.*28+8458A>C (n.*28+8458A>C) c.2242A>C (p.Met748Leu) n.1185T>G c.1576A>C (p.Met526Leu) | gnomAD v4 |
7 | g.55181386A>G | CA367578869 | EGFR,EGFR-AS1 | c.2218A>G (p.Met740Val) c.726A>G c.2377A>G (p.Met793Val) c.*28+8458A>G (n.*28+8458A>G) c.2242A>G (p.Met748Val) n.1185T>C c.1576A>G (p.Met526Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.55181386A>T | CA367578870 | EGFR,EGFR-AS1 | c.2218A>T (p.Met740Leu) c.726A>T c.2377A>T (p.Met793Leu) c.*28+8458A>T (n.*28+8458A>T) c.2242A>T (p.Met748Leu) n.1185T>A c.1576A>T (p.Met526Leu) | dbSNP |
7 | g.55181387T>A | CA367578872 | EGFR,EGFR-AS1 | c.2219T>A (p.Met740Lys) c.727T>A c.2378T>A (p.Met793Lys) c.*28+8459T>A (n.*28+8459T>A) c.2243T>A (p.Met748Lys) n.1184A>T c.1577T>A (p.Met526Lys) | dbSNP |
7 | g.55181387T>C | CA367578873 | EGFR,EGFR-AS1 | c.2219T>C (p.Met740Thr) c.727T>C c.2378T>C (p.Met793Thr) c.*28+8459T>C (n.*28+8459T>C) c.2243T>C (p.Met748Thr) n.1184A>G c.1577T>C (p.Met526Thr) | dbSNP gnomAD v4 |
7 | g.55181387T>G | CA367578871 | EGFR,EGFR-AS1 | c.2219T>G (p.Met740Arg) c.727T>G c.2378T>G (p.Met793Arg) c.*28+8459T>G (n.*28+8459T>G) c.2243T>G (p.Met748Arg) n.1184A>C c.1577T>G (p.Met526Arg) | dbSNP |
7 | g.55181388G>A | CA367578874 | EGFR,EGFR-AS1 | c.2220G>A (p.Met740Ile) c.728G>A c.2379G>A (p.Met793Ile) c.*28+8460G>A (n.*28+8460G>A) c.2244G>A (p.Met748Ile) n.1183C>T c.1578G>A (p.Met526Ile) | dbSNP |
7 | g.55181388G>C | CA367578875 | EGFR,EGFR-AS1 | c.2220G>C (p.Met740Ile) c.728G>C c.2379G>C (p.Met793Ile) c.*28+8460G>C (n.*28+8460G>C) c.2244G>C (p.Met748Ile) n.1183C>G c.1578G>C (p.Met526Ile) | |
7 | g.55181388G>T | CA367578876 | EGFR,EGFR-AS1 | c.2220G>T (p.Met740Ile) c.728G>T c.2379G>T (p.Met793Ile) c.*28+8460G>T (n.*28+8460G>T) c.2244G>T (p.Met748Ile) n.1183C>A c.1578G>T (p.Met526Ile) | COSMIC |
7 | g.55181389C>A | CA158928547 | EGFR,EGFR-AS1 | c.2221C>A (p.Pro741Thr) c.729C>A c.2380C>A (p.Pro794Thr) c.*28+8461C>A (n.*28+8461C>A) c.2245C>A (p.Pro749Thr) n.1182G>T c.1579C>A (p.Pro527Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.55181389C= | CA1708905514 | EGFR,EGFR-AS1 | c.2221C= (p.Pro741=) c.729C= c.2380C= (p.Pro794=) c.*28+8461C= (n.*28+8461C=) c.2245C= (p.Pro749=) n.1182G= c.1579C= (p.Pro527=) | |
7 | g.55181389C>G | CA367578877 | EGFR,EGFR-AS1 | c.2221C>G (p.Pro741Ala) c.729C>G c.2380C>G (p.Pro794Ala) c.*28+8461C>G (n.*28+8461C>G) c.2245C>G (p.Pro749Ala) n.1182G>C c.1579C>G (p.Pro527Ala) | dbSNP gnomAD v4 |
7 | g.55181389C>T | CA367578878 | EGFR,EGFR-AS1 | c.2221C>T (p.Pro741Ser) c.729C>T c.2380C>T (p.Pro794Ser) c.*28+8461C>T (n.*28+8461C>T) c.2245C>T (p.Pro749Ser) n.1182G>A c.1579C>T (p.Pro527Ser) | ClinVar dbSNP |
7 | g.55181390C>A | CA367578879 | EGFR,EGFR-AS1 | c.2222C>A (p.Pro741His) c.730C>A c.2381C>A (p.Pro794His) c.*28+8462C>A (n.*28+8462C>A) c.2246C>A (p.Pro749His) n.1181G>T c.1580C>A (p.Pro527His) | dbSNP COSMIC |
7 | g.55181390C>G | CA367578880 | EGFR,EGFR-AS1 | c.2222C>G (p.Pro741Arg) c.730C>G c.2381C>G (p.Pro794Arg) c.*28+8462C>G (n.*28+8462C>G) c.2246C>G (p.Pro749Arg) n.1181G>C c.1580C>G (p.Pro527Arg) | dbSNP |
7 | g.55181390C>T | CA367578881 | EGFR,EGFR-AS1 | c.2222C>T (p.Pro741Leu) c.730C>T c.2381C>T (p.Pro794Leu) c.*28+8462C>T (n.*28+8462C>T) c.2246C>T (p.Pro749Leu) n.1181G>A c.1580C>T (p.Pro527Leu) | dbSNP COSMIC |
7 | g.55181391C>A | CA455165188 | EGFR,EGFR-AS1 | c.2223C>A (p.Pro741=) c.731C>A c.2382C>A (p.Pro794=) c.*28+8463C>A (n.*28+8463C>A) c.2247C>A (p.Pro749=) n.1180G>T c.1581C>A (p.Pro527=) | gnomAD v4 |
7 | g.55181391C>G | CA455165187 | EGFR,EGFR-AS1 | c.2223C>G (p.Pro741=) c.731C>G c.2382C>G (p.Pro794=) c.*28+8463C>G (n.*28+8463C>G) c.2247C>G (p.Pro749=) n.1180G>C c.1581C>G (p.Pro527=) | |
7 | g.55181391C>T | CA455165185 | EGFR,EGFR-AS1 | c.2223C>T (p.Pro741=) c.731C>T c.2382C>T (p.Pro794=) c.*28+8463C>T (n.*28+8463C>T) c.2247C>T (p.Pro749=) n.1180G>A c.1581C>T (p.Pro527=) | gnomAD v4 |