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.55181440T>A | CA367578986 | EGFR,EGFR-AS1 | c.2272T>A (p.Ser758Thr) c.780T>A c.2431T>A (p.Ser811Thr) c.*28+8512T>A (n.*28+8512T>A) c.2296T>A (p.Ser766Thr) n.1131A>T c.1630T>A (p.Ser544Thr) | |
| 7 | g.55181440T>C | CA367578987 | EGFR,EGFR-AS1 | c.2272T>C (p.Ser758Pro) c.780T>C c.2431T>C (p.Ser811Pro) c.*28+8512T>C (n.*28+8512T>C) c.2296T>C (p.Ser766Pro) n.1131A>G c.1630T>C (p.Ser544Pro) | dbSNP |
| 7 | g.55181440T>G | CA367578988 | EGFR,EGFR-AS1 | c.2272T>G (p.Ser758Ala) c.780T>G c.2431T>G (p.Ser811Ala) c.*28+8512T>G (n.*28+8512T>G) c.2296T>G (p.Ser766Ala) n.1131A>C c.1630T>G (p.Ser544Ala) | ClinVar |
| 7 | g.55181441C>A | CA367578989 | EGFR,EGFR-AS1 | c.2273C>A (p.Ser758Tyr) c.781C>A c.2432C>A (p.Ser811Tyr) c.*28+8513C>A (n.*28+8513C>A) c.2297C>A (p.Ser766Tyr) n.1130G>T c.1631C>A (p.Ser544Tyr) | dbSNP |
| 7 | g.55181441C= | CA1708905703 | EGFR,EGFR-AS1 | c.2273C= (p.Ser758=) c.781C= c.2432C= (p.Ser811=) c.*28+8513C= (n.*28+8513C=) c.2297C= (p.Ser766=) n.1130G= c.1631C= (p.Ser544=) | |
| 7 | g.55181441C>G | CA367578990 | EGFR,EGFR-AS1 | c.2273C>G (p.Ser758Cys) c.781C>G c.2432C>G (p.Ser811Cys) c.*28+8513C>G (n.*28+8513C>G) c.2297C>G (p.Ser766Cys) n.1130G>C c.1631C>G (p.Ser544Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.55181441C>T | CA367578991 | EGFR,EGFR-AS1 | c.2273C>T (p.Ser758Phe) c.781C>T c.2432C>T (p.Ser811Phe) c.*28+8513C>T (n.*28+8513C>T) c.2297C>T (p.Ser766Phe) n.1130G>A c.1631C>T (p.Ser544Phe) | dbSNP COSMIC |
| 7 | g.55181442C>A | CA455165262 | EGFR,EGFR-AS1 | c.2274C>A (p.Ser758=) c.782C>A c.2433C>A (p.Ser811=) c.*28+8514C>A (n.*28+8514C>A) c.2298C>A (p.Ser766=) n.1129G>T c.1632C>A (p.Ser544=) | dbSNP |
| 7 | g.55181442C>G | CA455165263 | EGFR,EGFR-AS1 | c.2274C>G (p.Ser758=) c.782C>G c.2433C>G (p.Ser811=) c.*28+8514C>G (n.*28+8514C>G) c.2298C>G (p.Ser766=) n.1129G>C c.1632C>G (p.Ser544=) | dbSNP |
| 7 | g.55181442C>T | CA455165265 | EGFR,EGFR-AS1 | c.2274C>T (p.Ser758=) c.782C>T c.2433C>T (p.Ser811=) c.*28+8514C>T (n.*28+8514C>T) c.2298C>T (p.Ser766=) n.1129G>A c.1632C>T (p.Ser544=) | dbSNP |
| 7 | g.55181443C>A | CA367578992 | EGFR,EGFR-AS1 | c.2275C>A (p.Gln759Lys) c.783C>A c.2434C>A (p.Gln812Lys) c.*28+8515C>A (n.*28+8515C>A) c.2299C>A (p.Gln767Lys) n.1128G>T c.1633C>A (p.Gln545Lys) | dbSNP |
| 7 | g.55181443C>G | CA367578993 | EGFR,EGFR-AS1 | c.2275C>G (p.Gln759Glu) c.783C>G c.2434C>G (p.Gln812Glu) c.*28+8515C>G (n.*28+8515C>G) c.2299C>G (p.Gln767Glu) n.1128G>C c.1633C>G (p.Gln545Glu) | dbSNP |
| 7 | g.55181443C>T | CA367578994 | EGFR,EGFR-AS1 | c.2275C>T (p.Gln759Ter) c.783C>T c.2434C>T (p.Gln812Ter) c.*28+8515C>T (n.*28+8515C>T) c.2299C>T (p.Gln767Ter) n.1128G>A c.1633C>T (p.Gln545Ter) | dbSNP |
| 7 | g.55181444A= | CA1708905707 | EGFR,EGFR-AS1 | c.2276A= (p.Gln759=) c.784A= c.2435A= (p.Gln812=) c.*28+8516A= (n.*28+8516A=) c.2300A= (p.Gln767=) n.1127T= c.1634A= (p.Gln545=) | |
| 7 | g.55181444A>C | CA367578997 | EGFR,EGFR-AS1 | c.2276A>C (p.Gln759Pro) c.784A>C c.2435A>C (p.Gln812Pro) c.*28+8516A>C (n.*28+8516A>C) c.2300A>C (p.Gln767Pro) n.1127T>G c.1634A>C (p.Gln545Pro) | dbSNP |
| 7 | g.55181444A>G | CA367578995 | EGFR,EGFR-AS1 | c.2276A>G (p.Gln759Arg) c.784A>G c.2435A>G (p.Gln812Arg) c.*28+8516A>G (n.*28+8516A>G) c.2300A>G (p.Gln767Arg) n.1127T>C c.1634A>G (p.Gln545Arg) | ClinVar gnomAD v4 |
| 7 | g.55181444A>T | CA367578996 | EGFR,EGFR-AS1 | c.2276A>T (p.Gln759Leu) c.784A>T c.2435A>T (p.Gln812Leu) c.*28+8516A>T (n.*28+8516A>T) c.2300A>T (p.Gln767Leu) n.1127T>A c.1634A>T (p.Gln545Leu) | dbSNP |
| 7 | g.55181445G>A | CA455165270 | EGFR,EGFR-AS1 | c.2277G>A (p.Gln759=) c.785G>A c.2436G>A (p.Gln812=) c.*28+8517G>A (n.*28+8517G>A) c.2301G>A (p.Gln767=) n.1126C>T c.1635G>A (p.Gln545=) | ClinVar dbSNP |
| 7 | g.55181445G>C | CA367578998 | EGFR,EGFR-AS1 | c.2277G>C (p.Gln759His) c.785G>C c.2436G>C (p.Gln812His) c.*28+8517G>C (n.*28+8517G>C) c.2301G>C (p.Gln767His) n.1126C>G c.1635G>C (p.Gln545His) | dbSNP gnomAD v4 |
| 7 | g.55181445G>T | CA367578999 | EGFR,EGFR-AS1 | c.2277G>T (p.Gln759His) c.785G>T c.2436G>T (p.Gln812His) c.*28+8517G>T (n.*28+8517G>T) c.2301G>T (p.Gln767His) n.1126C>A c.1635G>T (p.Gln545His) | |
| 7 | g.55181446T>A | CA367579000 | EGFR,EGFR-AS1 | c.2278T>A (p.Tyr760Asn) c.786T>A c.2437T>A (p.Tyr813Asn) c.*28+8518T>A (n.*28+8518T>A) c.2302T>A (p.Tyr768Asn) n.1125A>T c.1636T>A (p.Tyr546Asn) | dbSNP |
| 7 | g.55181446T>C | CA367579001 | EGFR,EGFR-AS1 | c.2278T>C (p.Tyr760His) c.786T>C c.2437T>C (p.Tyr813His) c.*28+8518T>C (n.*28+8518T>C) c.2302T>C (p.Tyr768His) n.1125A>G c.1636T>C (p.Tyr546His) | dbSNP gnomAD v4 |
| 7 | g.55181446T>G | CA367579002 | EGFR,EGFR-AS1 | c.2278T>G (p.Tyr760Asp) c.786T>G c.2437T>G (p.Tyr813Asp) c.*28+8518T>G (n.*28+8518T>G) c.2302T>G (p.Tyr768Asp) n.1125A>C c.1636T>G (p.Tyr546Asp) | dbSNP |
| 7 | g.55181447A>C | CA367579003 | EGFR,EGFR-AS1 | c.2279A>C (p.Tyr760Ser) c.787A>C c.2438A>C (p.Tyr813Ser) c.*28+8519A>C (n.*28+8519A>C) c.2303A>C (p.Tyr768Ser) n.1124T>G c.1637A>C (p.Tyr546Ser) | |
| 7 | g.55181447A>G | CA367579004 | EGFR,EGFR-AS1 | c.2279A>G (p.Tyr760Cys) c.787A>G c.2438A>G (p.Tyr813Cys) c.*28+8519A>G (n.*28+8519A>G) c.2303A>G (p.Tyr768Cys) n.1124T>C c.1637A>G (p.Tyr546Cys) | gnomAD v4 COSMIC |
| 7 | g.55181447A>T | CA367579005 | EGFR,EGFR-AS1 | c.2279A>T (p.Tyr760Phe) c.787A>T c.2438A>T (p.Tyr813Phe) c.*28+8519A>T (n.*28+8519A>T) c.2303A>T (p.Tyr768Phe) n.1124T>A c.1637A>T (p.Tyr546Phe) | |
| 7 | g.55181448C>A | CA367579006 | EGFR,EGFR-AS1 | c.2280C>A (p.Tyr760Ter) c.788C>A c.2439C>A (p.Tyr813Ter) c.*28+8520C>A (n.*28+8520C>A) c.2304C>A (p.Tyr768Ter) n.1123G>T c.1638C>A (p.Tyr546Ter) | dbSNP |
| 7 | g.55181448C= | CA1708905711 | EGFR,EGFR-AS1 | c.2280C= (p.Tyr760=) c.788C= c.2439C= (p.Tyr813=) c.*28+8520C= (n.*28+8520C=) c.2304C= (p.Tyr768=) n.1123G= c.1638C= (p.Tyr546=) | |
| 7 | g.55181448C>G | CA367579007 | EGFR,EGFR-AS1 | c.2280C>G (p.Tyr760Ter) c.788C>G c.2439C>G (p.Tyr813Ter) c.*28+8520C>G (n.*28+8520C>G) c.2304C>G (p.Tyr768Ter) n.1123G>C c.1638C>G (p.Tyr546Ter) | dbSNP |
| 7 | g.55181448C>T | CA135902 | EGFR,EGFR-AS1 | c.2280C>T (p.Tyr760=) c.788C>T c.2439C>T (p.Tyr813=) c.*28+8520C>T (n.*28+8520C>T) c.2304C>T (p.Tyr768=) n.1123G>A c.1638C>T (p.Tyr546=) | ClinVar dbSNP |
| 7 | g.55181449C>A | CA367579008 | EGFR,EGFR-AS1 | c.2281C>A (p.Leu761Met) c.789C>A c.2440C>A (p.Leu814Met) c.*28+8521C>A (n.*28+8521C>A) c.2305C>A (p.Leu769Met) n.1122G>T c.1639C>A (p.Leu547Met) | dbSNP |
| 7 | g.55181449C>G | CA367579009 | EGFR,EGFR-AS1 | c.2281C>G (p.Leu761Val) c.789C>G c.2440C>G (p.Leu814Val) c.*28+8521C>G (n.*28+8521C>G) c.2305C>G (p.Leu769Val) n.1122G>C c.1639C>G (p.Leu547Val) | dbSNP |
| 7 | g.55181449C>T | CA455165272 | EGFR,EGFR-AS1 | c.2281C>T (p.Leu761=) c.789C>T c.2440C>T (p.Leu814=) c.*28+8521C>T (n.*28+8521C>T) c.2305C>T (p.Leu769=) n.1122G>A c.1639C>T (p.Leu547=) | ClinVar dbSNP |
| 7 | g.55181450T>A | CA367579011 | EGFR,EGFR-AS1 | c.2282T>A (p.Leu761Gln) c.790T>A c.2441T>A (p.Leu814Gln) c.*28+8522T>A (n.*28+8522T>A) c.2306T>A (p.Leu769Gln) n.1121A>T c.1640T>A (p.Leu547Gln) | dbSNP |
| 7 | g.55181450T>C | CA367579012 | EGFR,EGFR-AS1 | c.2282T>C (p.Leu761Pro) c.790T>C c.2441T>C (p.Leu814Pro) c.*28+8522T>C (n.*28+8522T>C) c.2306T>C (p.Leu769Pro) n.1121A>G c.1640T>C (p.Leu547Pro) | ClinVar dbSNP |
| 7 | g.55181450T>G | CA367579010 | EGFR,EGFR-AS1 | c.2282T>G (p.Leu761Arg) c.790T>G c.2441T>G (p.Leu814Arg) c.*28+8522T>G (n.*28+8522T>G) c.2306T>G (p.Leu769Arg) n.1121A>C c.1640T>G (p.Leu547Arg) | gnomAD v4 |
| 7 | g.55181450T= | CA1708905721 | EGFR,EGFR-AS1 | c.2282T= (p.Leu761=) c.790T= c.2441T= (p.Leu814=) c.*28+8522T= (n.*28+8522T=) c.2306T= (p.Leu769=) n.1121A= c.1640T= (p.Leu547=) | |
| 7 | g.55181451G>A | CA455165275 | EGFR,EGFR-AS1 | c.2283G>A (p.Leu761=) c.791G>A c.2442G>A (p.Leu814=) c.*28+8523G>A (n.*28+8523G>A) c.2307G>A (p.Leu769=) n.1120C>T c.1641G>A (p.Leu547=) | dbSNP |
| 7 | g.55181451G>C | CA455165276 | EGFR,EGFR-AS1 | c.2283G>C (p.Leu761=) c.791G>C c.2442G>C (p.Leu814=) c.*28+8523G>C (n.*28+8523G>C) c.2307G>C (p.Leu769=) n.1120C>G c.1641G>C (p.Leu547=) | dbSNP |
| 7 | g.55181451G= | CA1708905732 | EGFR,EGFR-AS1 | c.2283G= (p.Leu761=) c.791G= c.2442G= (p.Leu814=) c.*28+8523G= (n.*28+8523G=) c.2307G= (p.Leu769=) n.1120C= c.1641G= (p.Leu547=) | |
| 7 | g.55181451G>T | CA4266071 | EGFR,EGFR-AS1 | c.2283G>T (p.Leu761=) c.791G>T c.2442G>T (p.Leu814=) c.*28+8523G>T (n.*28+8523G>T) c.2307G>T (p.Leu769=) n.1120C>A c.1641G>T (p.Leu547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55181452C>A | CA367579013 | EGFR,EGFR-AS1 | c.2284C>A (p.Leu762Ile) c.792C>A c.2443C>A (p.Leu815Ile) c.*28+8524C>A (n.*28+8524C>A) c.2308C>A (p.Leu770Ile) n.1119G>T c.1642C>A (p.Leu548Ile) | dbSNP |
| 7 | g.55181452C= | CA1708905739 | EGFR,EGFR-AS1 | c.2284C= (p.Leu762=) c.792C= c.2443C= (p.Leu815=) c.*28+8524C= (n.*28+8524C=) c.2308C= (p.Leu770=) n.1119G= c.1642C= (p.Leu548=) | |
| 7 | g.55181452C>G | CA367579015 | EGFR,EGFR-AS1 | c.2284C>G (p.Leu762Val) c.792C>G c.2443C>G (p.Leu815Val) c.*28+8524C>G (n.*28+8524C>G) c.2308C>G (p.Leu770Val) n.1119G>C c.1642C>G (p.Leu548Val) | dbSNP |
| 7 | g.55181452C>T | CA367579014 | EGFR,EGFR-AS1 | c.2284C>T (p.Leu762Phe) c.792C>T c.2443C>T (p.Leu815Phe) c.*28+8524C>T (n.*28+8524C>T) c.2308C>T (p.Leu770Phe) n.1119G>A c.1642C>T (p.Leu548Phe) | dbSNP |
| 7 | g.55181453T>A | CA367579016 | EGFR,EGFR-AS1 | c.2285T>A (p.Leu762His) c.793T>A c.2444T>A (p.Leu815His) c.*28+8525T>A (n.*28+8525T>A) c.2309T>A (p.Leu770His) n.1118A>T c.1643T>A (p.Leu548His) | dbSNP |
| 7 | g.55181453T>C | CA367579017 | EGFR,EGFR-AS1 | c.2285T>C (p.Leu762Pro) c.793T>C c.2444T>C (p.Leu815Pro) c.*28+8525T>C (n.*28+8525T>C) c.2309T>C (p.Leu770Pro) n.1118A>G c.1643T>C (p.Leu548Pro) | |
| 7 | g.55181453T>G | CA367579018 | EGFR,EGFR-AS1 | c.2285T>G (p.Leu762Arg) c.793T>G c.2444T>G (p.Leu815Arg) c.*28+8525T>G (n.*28+8525T>G) c.2309T>G (p.Leu770Arg) n.1118A>C c.1643T>G (p.Leu548Arg) | |
| 7 | g.55181454C>A | CA455165280 | EGFR,EGFR-AS1 | c.2286C>A (p.Leu762=) c.794C>A c.2445C>A (p.Leu815=) c.*28+8526C>A (n.*28+8526C>A) c.2310C>A (p.Leu770=) n.1117G>T c.1644C>A (p.Leu548=) | dbSNP |
| 7 | g.55181454C>G | CA455165281 | EGFR,EGFR-AS1 | c.2286C>G (p.Leu762=) c.794C>G c.2445C>G (p.Leu815=) c.*28+8526C>G (n.*28+8526C>G) c.2310C>G (p.Leu770=) n.1117G>C c.1644C>G (p.Leu548=) | dbSNP |