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.55191703_55191716del | CA2682855711 | EGFR | c.2311-16_2311-3del (n.2311-16_2311-3del) c.819-16_819-3del c.2470-16_2470-3del (n.2470-16_2470-3del) c.*28+18775_*28+18788del (n.*28+18775_*28+18788del) c.2335-16_2335-3del (n.2335-16_2335-3del) c.1669-16_1669-3del (n.1669-16_1669-3del) | gnomAD v4 |
| 7 | g.55191709T>C | CA574324774 | EGFR | c.2311-10T>C (n.2311-10T>C) c.819-10T>C c.2470-10T>C (n.2470-10T>C) c.*28+18781T>C (n.*28+18781T>C) c.2335-10T>C (n.2335-10T>C) c.1669-10T>C (n.1669-10T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.55191709T= | CA1708922362 | EGFR | c.2311-10T= (n.2311-10T=) c.819-10T= c.2470-10T= (n.2470-10T=) c.*28+18781T= (n.*28+18781T=) c.2335-10T= (n.2335-10T=) c.1669-10T= (n.1669-10T=) | |
| 7 | g.55191710C>A | CA2682855714 | EGFR | c.2311-9C>A (n.2311-9C>A) c.819-9C>A c.2470-9C>A (n.2470-9C>A) c.*28+18782C>A (n.*28+18782C>A) c.2335-9C>A (n.2335-9C>A) c.1669-9C>A (n.1669-9C>A) | gnomAD v4 |
| 7 | g.55191710C= | CA1708922368 | EGFR | c.2311-9C= (n.2311-9C=) c.819-9C= c.2470-9C= (n.2470-9C=) c.*28+18782C= (n.*28+18782C=) c.2335-9C= (n.2335-9C=) c.1669-9C= (n.1669-9C=) | |
| 7 | g.55191710C>G | CA574324776 | EGFR | c.2311-9C>G (n.2311-9C>G) c.819-9C>G c.2470-9C>G (n.2470-9C>G) c.*28+18782C>G (n.*28+18782C>G) c.2335-9C>G (n.2335-9C>G) c.1669-9C>G (n.1669-9C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55191710C>T | CA158934109 | EGFR | c.2311-9C>T (n.2311-9C>T) c.819-9C>T c.2470-9C>T (n.2470-9C>T) c.*28+18782C>T (n.*28+18782C>T) c.2335-9C>T (n.2335-9C>T) c.1669-9C>T (n.1669-9C>T) | ClinVar dbSNP |
| 7 | g.55191711T>A | CA2714936244 | EGFR | c.2311-8T>A (n.2311-8T>A) c.819-8T>A c.2470-8T>A (n.2470-8T>A) c.*28+18783T>A (n.*28+18783T>A) c.2335-8T>A (n.2335-8T>A) c.1669-8T>A (n.1669-8T>A) | dbSNP |
| 7 | g.55191711T>G | CA2499218925 | EGFR | c.2311-8T>G (n.2311-8T>G) c.819-8T>G c.2470-8T>G (n.2470-8T>G) c.*28+18783T>G (n.*28+18783T>G) c.2335-8T>G (n.2335-8T>G) c.1669-8T>G (n.1669-8T>G) | ClinVar dbSNP |
| 7 | g.55191712G>C | CA2682855715 | EGFR | c.2311-7G>C (n.2311-7G>C) c.819-7G>C c.2470-7G>C (n.2470-7G>C) c.*28+18784G>C (n.*28+18784G>C) c.2335-7G>C (n.2335-7G>C) c.1669-7G>C (n.1669-7G>C) | gnomAD v4 |
| 7 | g.55191713T>A | CA2714936390 | EGFR | c.2311-6T>A (n.2311-6T>A) c.819-6T>A c.2470-6T>A (n.2470-6T>A) c.*28+18785T>A (n.*28+18785T>A) c.2335-6T>A (n.2335-6T>A) c.1669-6T>A (n.1669-6T>A) | dbSNP |
| 7 | g.55191713T>C | CA2714936393 | EGFR | c.2311-6T>C (n.2311-6T>C) c.819-6T>C c.2470-6T>C (n.2470-6T>C) c.*28+18785T>C (n.*28+18785T>C) c.2335-6T>C (n.2335-6T>C) c.1669-6T>C (n.1669-6T>C) | dbSNP |
| 7 | g.55191713T>G | CA2714936397 | EGFR | c.2311-6T>G (n.2311-6T>G) c.819-6T>G c.2470-6T>G (n.2470-6T>G) c.*28+18785T>G (n.*28+18785T>G) c.2335-6T>G (n.2335-6T>G) c.1669-6T>G (n.1669-6T>G) | dbSNP |
| 7 | g.55191714T>A | CA2714936419 | EGFR | c.2311-5T>A (n.2311-5T>A) c.819-5T>A c.2470-5T>A (n.2470-5T>A) c.*28+18786T>A (n.*28+18786T>A) c.2335-5T>A (n.2335-5T>A) c.1669-5T>A (n.1669-5T>A) | dbSNP |
| 7 | g.55191714T>C | CA2714936464 | EGFR | c.2311-5T>C (n.2311-5T>C) c.819-5T>C c.2470-5T>C (n.2470-5T>C) c.*28+18786T>C (n.*28+18786T>C) c.2335-5T>C (n.2335-5T>C) c.1669-5T>C (n.1669-5T>C) | dbSNP |
| 7 | g.55191715T>A | CA2714936519 | EGFR | c.2311-4T>A (n.2311-4T>A) c.819-4T>A c.2470-4T>A (n.2470-4T>A) c.*28+18787T>A (n.*28+18787T>A) c.2335-4T>A (n.2335-4T>A) c.1669-4T>A (n.1669-4T>A) | dbSNP |
| 7 | g.55191715T>C | CA2714936524 | EGFR | c.2311-4T>C (n.2311-4T>C) c.819-4T>C c.2470-4T>C (n.2470-4T>C) c.*28+18787T>C (n.*28+18787T>C) c.2335-4T>C (n.2335-4T>C) c.1669-4T>C (n.1669-4T>C) | dbSNP |
| 7 | g.55191716C>A | CA2714936537 | EGFR | c.2311-3C>A (n.2311-3C>A) c.819-3C>A c.2470-3C>A (n.2470-3C>A) c.*28+18788C>A (n.*28+18788C>A) c.2335-3C>A (n.2335-3C>A) c.1669-3C>A (n.1669-3C>A) | dbSNP |
| 7 | g.55191716C>G | CA2714936543 | EGFR | c.2311-3C>G (n.2311-3C>G) c.819-3C>G c.2470-3C>G (n.2470-3C>G) c.*28+18788C>G (n.*28+18788C>G) c.2335-3C>G (n.2335-3C>G) c.1669-3C>G (n.1669-3C>G) | dbSNP |
| 7 | g.55191716C>T | CA2573142229 | EGFR | c.2311-3C>T (n.2311-3C>T) c.819-3C>T c.2470-3C>T (n.2470-3C>T) c.*28+18788C>T (n.*28+18788C>T) c.2335-3C>T (n.2335-3C>T) c.1669-3C>T (n.1669-3C>T) | ClinVar dbSNP |
| 7 | g.55191717A>C | CA367580054 | EGFR | c.2311-2A>C (n.2311-2A>C) c.819-2A>C c.2470-2A>C (n.2470-2A>C) c.*28+18789A>C (n.*28+18789A>C) c.2335-2A>C (n.2335-2A>C) c.1669-2A>C (n.1669-2A>C) | |
| 7 | g.55191717A>G | CA367580055 | EGFR | c.2311-2A>G (n.2311-2A>G) c.819-2A>G c.2470-2A>G (n.2470-2A>G) c.*28+18789A>G (n.*28+18789A>G) c.2335-2A>G (n.2335-2A>G) c.1669-2A>G (n.1669-2A>G) | dbSNP |
| 7 | g.55191717A>T | CA367580056 | EGFR | c.2311-2A>T (n.2311-2A>T) c.819-2A>T c.2470-2A>T (n.2470-2A>T) c.*28+18789A>T (n.*28+18789A>T) c.2335-2A>T (n.2335-2A>T) c.1669-2A>T (n.1669-2A>T) | dbSNP |
| 7 | g.55191718G>A | CA367580057 | EGFR | c.2311-1G>A (n.2311-1G>A) c.819-1G>A c.2470-1G>A (n.2470-1G>A) c.*28+18790G>A (n.*28+18790G>A) c.2335-1G>A (n.2335-1G>A) c.1669-1G>A (n.1669-1G>A) | dbSNP |
| 7 | g.55191718G>C | CA367580058 | EGFR | c.2311-1G>C (n.2311-1G>C) c.819-1G>C c.2470-1G>C (n.2470-1G>C) c.*28+18790G>C (n.*28+18790G>C) c.2335-1G>C (n.2335-1G>C) c.1669-1G>C (n.1669-1G>C) | dbSNP |
| 7 | g.55191718G>T | CA367580059 | EGFR | c.2311-1G>T (n.2311-1G>T) c.819-1G>T c.2470-1G>T (n.2470-1G>T) c.*28+18790G>T (n.*28+18790G>T) c.2335-1G>T (n.2335-1G>T) c.1669-1G>T (n.1669-1G>T) | dbSNP |
| 7 | g.55191719G>A | CA367580060 | EGFR | c.2311G>A (p.Gly771Ser) c.819G>A c.2470G>A (p.Gly824Ser) c.*28+18791G>A (n.*28+18791G>A) c.2335G>A (p.Gly779Ser) c.1669G>A (p.Gly557Ser) | dbSNP |
| 7 | g.55191719G>C | CA367580061 | EGFR | c.2311G>C (p.Gly771Arg) c.819G>C c.2470G>C (p.Gly824Arg) c.*28+18791G>C (n.*28+18791G>C) c.2335G>C (p.Gly779Arg) c.1669G>C (p.Gly557Arg) | dbSNP |
| 7 | g.55191719G>T | CA367580062 | EGFR | c.2311G>T (p.Gly771Cys) c.819G>T c.2470G>T (p.Gly824Cys) c.*28+18791G>T (n.*28+18791G>T) c.2335G>T (p.Gly779Cys) c.1669G>T (p.Gly557Cys) | dbSNP |
| 7 | g.55191720G>A | CA151169 | EGFR | c.2312G>A (p.Gly771Asp) c.820G>A c.2471G>A (p.Gly824Asp) c.*28+18792G>A (n.*28+18792G>A) c.2336G>A (p.Gly779Asp) c.1670G>A (p.Gly557Asp) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.55191720G>C | CA367580064 | EGFR | c.2312G>C (p.Gly771Ala) c.820G>C c.2471G>C (p.Gly824Ala) c.*28+18792G>C (n.*28+18792G>C) c.2336G>C (p.Gly779Ala) c.1670G>C (p.Gly557Ala) | dbSNP |
| 7 | g.55191720G= | CA1708922380 | EGFR | c.2312G= (p.Gly771=) c.820G= c.2471G= (p.Gly824=) c.*28+18792G= (n.*28+18792G=) c.2336G= (p.Gly779=) c.1670G= (p.Gly557=) | |
| 7 | g.55191720G>T | CA367580063 | EGFR | c.2312G>T (p.Gly771Val) c.820G>T c.2471G>T (p.Gly824Val) c.*28+18792G>T (n.*28+18792G>T) c.2336G>T (p.Gly779Val) c.1670G>T (p.Gly557Val) | dbSNP |
| 7 | g.55191721C>A | CA454965570 | EGFR | c.2313C>A (p.Gly771=) c.821C>A c.2472C>A (p.Gly824=) c.*28+18793C>A (n.*28+18793C>A) c.2337C>A (p.Gly779=) c.1671C>A (p.Gly557=) | COSMIC |
| 7 | g.55191721C>G | CA454965571 | EGFR | c.2313C>G (p.Gly771=) c.821C>G c.2472C>G (p.Gly824=) c.*28+18793C>G (n.*28+18793C>G) c.2337C>G (p.Gly779=) c.1671C>G (p.Gly557=) | dbSNP |
| 7 | g.55191721C>T | CA454965572 | EGFR | c.2313C>T (p.Gly771=) c.821C>T c.2472C>T (p.Gly824=) c.*28+18793C>T (n.*28+18793C>T) c.2337C>T (p.Gly779=) c.1671C>T (p.Gly557=) | dbSNP |
| 7 | g.55191721_55191725del | CA2682855716 | EGFR | c.2313_2317del (p.Met772LeufsTer?) c.821_825del c.2472_2476del (p.Met825LeufsTer?) c.*28+18793_*28+18797del (n.*28+18793_*28+18797del) c.2337_2341del (p.Met780LeufsTer?) c.1671_1675del (p.Met558LeufsTer?) | gnomAD v4 |
| 7 | g.55191722A>C | CA367580065 | EGFR | c.2314A>C (p.Met772Leu) c.822A>C c.2473A>C (p.Met825Leu) c.*28+18794A>C (n.*28+18794A>C) c.2338A>C (p.Met780Leu) c.1672A>C (p.Met558Leu) | ClinVar dbSNP |
| 7 | g.55191722A>G | CA367580066 | EGFR | c.2314A>G (p.Met772Val) c.822A>G c.2473A>G (p.Met825Val) c.*28+18794A>G (n.*28+18794A>G) c.2338A>G (p.Met780Val) c.1672A>G (p.Met558Val) | dbSNP |
| 7 | g.55191722A>T | CA367580067 | EGFR | c.2314A>T (p.Met772Leu) c.822A>T c.2473A>T (p.Met825Leu) c.*28+18794A>T (n.*28+18794A>T) c.2338A>T (p.Met780Leu) c.1672A>T (p.Met558Leu) | dbSNP |
| 7 | g.55191723T>A | CA367580068 | EGFR | c.2315T>A (p.Met772Lys) c.823T>A c.2474T>A (p.Met825Lys) c.*28+18795T>A (n.*28+18795T>A) c.2339T>A (p.Met780Lys) c.1673T>A (p.Met558Lys) | |
| 7 | g.55191723T>C | CA367580069 | EGFR | c.2315T>C (p.Met772Thr) c.823T>C c.2474T>C (p.Met825Thr) c.*28+18795T>C (n.*28+18795T>C) c.2339T>C (p.Met780Thr) c.1673T>C (p.Met558Thr) | dbSNP |
| 7 | g.55191723T>G | CA367580070 | EGFR | c.2315T>G (p.Met772Arg) c.823T>G c.2474T>G (p.Met825Arg) c.*28+18795T>G (n.*28+18795T>G) c.2339T>G (p.Met780Arg) c.1673T>G (p.Met558Arg) | |
| 7 | g.55191724G>A | CA367580071 | EGFR | c.2316G>A (p.Met772Ile) c.824G>A c.2475G>A (p.Met825Ile) c.*28+18796G>A (n.*28+18796G>A) c.2340G>A (p.Met780Ile) c.1674G>A (p.Met558Ile) | dbSNP gnomAD v4 COSMIC |
| 7 | g.55191724G>C | CA367580072 | EGFR | c.2316G>C (p.Met772Ile) c.824G>C c.2475G>C (p.Met825Ile) c.*28+18796G>C (n.*28+18796G>C) c.2340G>C (p.Met780Ile) c.1674G>C (p.Met558Ile) | dbSNP |
| 7 | g.55191724G= | CA1708922388 | EGFR | c.2316G= (p.Met772=) c.824G= c.2475G= (p.Met825=) c.*28+18796G= (n.*28+18796G=) c.2340G= (p.Met780=) c.1674G= (p.Met558=) | |
| 7 | g.55191724G>T | CA367580073 | EGFR | c.2316G>T (p.Met772Ile) c.824G>T c.2475G>T (p.Met825Ile) c.*28+18796G>T (n.*28+18796G>T) c.2340G>T (p.Met780Ile) c.1674G>T (p.Met558Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191725A>C | CA367580074 | EGFR | c.2317A>C (p.Asn773His) c.825A>C c.2476A>C (p.Asn826His) c.*28+18797A>C (n.*28+18797A>C) c.2341A>C (p.Asn781His) c.1675A>C (p.Asn559His) | |
| 7 | g.55191725A>G | CA367580075 | EGFR | c.2317A>G (p.Asn773Asp) c.825A>G c.2476A>G (p.Asn826Asp) c.*28+18797A>G (n.*28+18797A>G) c.2341A>G (p.Asn781Asp) c.1675A>G (p.Asn559Asp) | |
| 7 | g.55191725A>T | CA367580076 | EGFR | c.2317A>T (p.Asn773Tyr) c.825A>T c.2476A>T (p.Asn826Tyr) c.*28+18797A>T (n.*28+18797A>T) c.2341A>T (p.Asn781Tyr) c.1675A>T (p.Asn559Tyr) |