UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.55181343G>A | CA4266056 | EGFR,EGFR-AS1 | c.2175G>A (p.Leu725=) c.683G>A c.2334G>A (p.Leu778=) c.*28+8415G>A (n.*28+8415G>A) c.2199G>A (p.Leu733=) n.1228C>T c.1533G>A (p.Leu511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55181343G>C | CA455165109 | EGFR,EGFR-AS1 | c.2175G>C (p.Leu725=) c.683G>C c.2334G>C (p.Leu778=) c.*28+8415G>C (n.*28+8415G>C) c.2199G>C (p.Leu733=) n.1228C>G c.1533G>C (p.Leu511=) | dbSNP |
| 7 | g.55181343G= | CA1708905364 | EGFR,EGFR-AS1 | c.2175G= (p.Leu725=) c.683G= c.2334G= (p.Leu778=) c.*28+8415G= (n.*28+8415G=) c.2199G= (p.Leu733=) n.1228C= c.1533G= (p.Leu511=) | |
| 7 | g.55181343G>T | CA135878 | EGFR,EGFR-AS1 | c.2175G>T (p.Leu725=) c.683G>T c.2334G>T (p.Leu778=) c.*28+8415G>T (n.*28+8415G>T) c.2199G>T (p.Leu733=) n.1228C>A c.1533G>T (p.Leu511=) | ClinVar dbSNP COSMIC |
| 7 | g.55181344G>A | CA367578778 | EGFR,EGFR-AS1 | c.2176G>A (p.Gly726Ser) c.684G>A c.2335G>A (p.Gly779Ser) c.*28+8416G>A (n.*28+8416G>A) c.2200G>A (p.Gly734Ser) n.1227C>T c.1534G>A (p.Gly512Ser) | ClinVar dbSNP COSMIC |
| 7 | g.55181344G>C | CA367578781 | EGFR,EGFR-AS1 | c.2176G>C (p.Gly726Arg) c.684G>C c.2335G>C (p.Gly779Arg) c.*28+8416G>C (n.*28+8416G>C) c.2200G>C (p.Gly734Arg) n.1227C>G c.1534G>C (p.Gly512Arg) | dbSNP |
| 7 | g.55181344G= | CA1708905369 | EGFR,EGFR-AS1 | c.2176G= (p.Gly726=) c.684G= c.2335G= (p.Gly779=) c.*28+8416G= (n.*28+8416G=) c.2200G= (p.Gly734=) n.1227C= c.1534G= (p.Gly512=) | |
| 7 | g.55181344G>T | CA135881 | EGFR,EGFR-AS1 | c.2176G>T (p.Gly726Cys) c.684G>T c.2335G>T (p.Gly779Cys) c.*28+8416G>T (n.*28+8416G>T) c.2200G>T (p.Gly734Cys) n.1227C>A c.1534G>T (p.Gly512Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55181344_55181345delinsTT | CA16040590 | EGFR,EGFR-AS1 | c.2176_2177delinsTT (p.Gly726Phe) c.684_685delinsTT c.2335_2336delinsTT (p.Gly779Phe) c.*28+8416_*28+8417delinsTT (n.*28+8416_*28+8417delinsTT) c.2200_2201delinsTT (p.Gly734Phe) n.1226_1227delinsAA c.1534_1535delinsTT (p.Gly512Phe) | COSMIC |
| 7 | g.55181345G>A | CA367578783 | EGFR,EGFR-AS1 | c.2177G>A (p.Gly726Asp) c.685G>A c.2336G>A (p.Gly779Asp) c.*28+8417G>A (n.*28+8417G>A) c.2201G>A (p.Gly734Asp) n.1226C>T c.1535G>A (p.Gly512Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55181345G>C | CA367578784 | EGFR,EGFR-AS1 | c.2177G>C (p.Gly726Ala) c.685G>C c.2336G>C (p.Gly779Ala) c.*28+8417G>C (n.*28+8417G>C) c.2201G>C (p.Gly734Ala) n.1226C>G c.1535G>C (p.Gly512Ala) | dbSNP |
| 7 | g.55181345G= | CA1708905376 | EGFR,EGFR-AS1 | c.2177G= (p.Gly726=) c.685G= c.2336G= (p.Gly779=) c.*28+8417G= (n.*28+8417G=) c.2201G= (p.Gly734=) n.1226C= c.1535G= (p.Gly512=) | |
| 7 | g.55181345G>T | CA135884 | EGFR,EGFR-AS1 | c.2177G>T (p.Gly726Val) c.685G>T c.2336G>T (p.Gly779Val) c.*28+8417G>T (n.*28+8417G>T) c.2201G>T (p.Gly734Val) n.1226C>A c.1535G>T (p.Gly512Val) | ClinVar dbSNP |
| 7 | g.55181346C>A | CA455165113 | EGFR,EGFR-AS1 | c.2178C>A (p.Gly726=) c.686C>A c.2337C>A (p.Gly779=) c.*28+8418C>A (n.*28+8418C>A) c.2202C>A (p.Gly734=) n.1225G>T c.1536C>A (p.Gly512=) | dbSNP gnomAD v2 |
| 7 | g.55181346C= | CA1708905382 | EGFR,EGFR-AS1 | c.2178C= (p.Gly726=) c.686C= c.2337C= (p.Gly779=) c.*28+8418C= (n.*28+8418C=) c.2202C= (p.Gly734=) n.1225G= c.1536C= (p.Gly512=) | |
| 7 | g.55181346C>G | CA455165115 | EGFR,EGFR-AS1 | c.2178C>G (p.Gly726=) c.686C>G c.2337C>G (p.Gly779=) c.*28+8418C>G (n.*28+8418C>G) c.2202C>G (p.Gly734=) n.1225G>C c.1536C>G (p.Gly512=) | dbSNP |
| 7 | g.55181346C>T | CA455165116 | EGFR,EGFR-AS1 | c.2178C>T (p.Gly726=) c.686C>T c.2337C>T (p.Gly779=) c.*28+8418C>T (n.*28+8418C>T) c.2202C>T (p.Gly734=) n.1225G>A c.1536C>T (p.Gly512=) | dbSNP |
| 7 | g.55181347A>C | CA367578787 | EGFR,EGFR-AS1 | c.2179A>C (p.Ile727Leu) c.687A>C c.2338A>C (p.Ile780Leu) c.*28+8419A>C (n.*28+8419A>C) c.2203A>C (p.Ile735Leu) n.1224T>G c.1537A>C (p.Ile513Leu) | dbSNP |
| 7 | g.55181347A>G | CA367578785 | EGFR,EGFR-AS1 | c.2179A>G (p.Ile727Val) c.687A>G c.2338A>G (p.Ile780Val) c.*28+8419A>G (n.*28+8419A>G) c.2203A>G (p.Ile735Val) n.1224T>C c.1537A>G (p.Ile513Val) | dbSNP COSMIC |
| 7 | g.55181347A>T | CA367578786 | EGFR,EGFR-AS1 | c.2179A>T (p.Ile727Phe) c.687A>T c.2338A>T (p.Ile780Phe) c.*28+8419A>T (n.*28+8419A>T) c.2203A>T (p.Ile735Phe) n.1224T>A c.1537A>T (p.Ile513Phe) | dbSNP |
| 7 | g.55181348T>A | CA367578788 | EGFR,EGFR-AS1 | c.2180T>A (p.Ile727Asn) c.688T>A c.2339T>A (p.Ile780Asn) c.*28+8420T>A (n.*28+8420T>A) c.2204T>A (p.Ile735Asn) n.1223A>T c.1538T>A (p.Ile513Asn) | dbSNP |
| 7 | g.55181348T>C | CA367578790 | EGFR,EGFR-AS1 | c.2180T>C (p.Ile727Thr) c.688T>C c.2339T>C (p.Ile780Thr) c.*28+8420T>C (n.*28+8420T>C) c.2204T>C (p.Ile735Thr) n.1223A>G c.1538T>C (p.Ile513Thr) | ClinVar dbSNP COSMIC |
| 7 | g.55181348T>G | CA367578789 | EGFR,EGFR-AS1 | c.2180T>G (p.Ile727Ser) c.688T>G c.2339T>G (p.Ile780Ser) c.*28+8420T>G (n.*28+8420T>G) c.2204T>G (p.Ile735Ser) n.1223A>C c.1538T>G (p.Ile513Ser) | dbSNP COSMIC |
| 7 | g.55181348T= | CA1708905385 | EGFR,EGFR-AS1 | c.2180T= (p.Ile727=) c.688T= c.2339T= (p.Ile780=) c.*28+8420T= (n.*28+8420T=) c.2204T= (p.Ile735=) n.1223A= c.1538T= (p.Ile513=) | |
| 7 | g.55181349C>A | CA455165121 | EGFR,EGFR-AS1 | c.2181C>A (p.Ile727=) c.689C>A c.2340C>A (p.Ile780=) c.*28+8421C>A (n.*28+8421C>A) c.2205C>A (p.Ile735=) n.1222G>T c.1539C>A (p.Ile513=) | |
| 7 | g.55181349C= | CA1708905391 | EGFR,EGFR-AS1 | c.2181C= (p.Ile727=) c.689C= c.2340C= (p.Ile780=) c.*28+8421C= (n.*28+8421C=) c.2205C= (p.Ile735=) n.1222G= c.1539C= (p.Ile513=) | |
| 7 | g.55181349C>G | CA367578791 | EGFR,EGFR-AS1 | c.2181C>G (p.Ile727Met) c.689C>G c.2340C>G (p.Ile780Met) c.*28+8421C>G (n.*28+8421C>G) c.2205C>G (p.Ile735Met) n.1222G>C c.1539C>G (p.Ile513Met) | dbSNP |
| 7 | g.55181349C>T | CA135887 | EGFR,EGFR-AS1 | c.2181C>T (p.Ile727=) c.689C>T c.2340C>T (p.Ile780=) c.*28+8421C>T (n.*28+8421C>T) c.2205C>T (p.Ile735=) n.1222G>A c.1539C>T (p.Ile513=) | ClinVar dbSNP |
| 7 | g.55181350T>A | CA367578792 | EGFR,EGFR-AS1 | c.2182T>A (p.Cys728Ser) c.690T>A c.2341T>A (p.Cys781Ser) c.*28+8422T>A (n.*28+8422T>A) c.2206T>A (p.Cys736Ser) n.1221A>T c.1540T>A (p.Cys514Ser) | dbSNP |
| 7 | g.55181350T>C | CA367578793 | EGFR,EGFR-AS1 | c.2182T>C (p.Cys728Arg) c.690T>C c.2341T>C (p.Cys781Arg) c.*28+8422T>C (n.*28+8422T>C) c.2206T>C (p.Cys736Arg) n.1221A>G c.1540T>C (p.Cys514Arg) | dbSNP |
| 7 | g.55181350T>G | CA367578794 | EGFR,EGFR-AS1 | c.2182T>G (p.Cys728Gly) c.690T>G c.2341T>G (p.Cys781Gly) c.*28+8422T>G (n.*28+8422T>G) c.2206T>G (p.Cys736Gly) n.1221A>C c.1540T>G (p.Cys514Gly) | |
| 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 |