WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55191747_55191835delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG | CA1708922454 | EGFR | c.2339_2427delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu780=) c.847_899+36delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG c.2498_2586delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu833=) c.*28+18819_*28+18907delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (n.*28+18819_*28+18907delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG) c.2363_2451delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu788=) c.1697_1785delinsTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTG (p.Leu566=) | |
| 7 | g.55191753_55191840del | CA176020 | EGFR | c.2345_2432del (p.His782ArgfsTer?) c.853_899+41del c.2504_2591del (p.His835ArgfsTer?) c.*28+18825_*28+18912del (n.*28+18825_*28+18912del) c.2369_2456del (p.His790ArgfsTer?) c.1703_1790del (p.His568ArgfsTer?) | ClinVar dbSNP |
| 7 | g.55191763G>A | CA454965601 | EGFR | c.2355G>A (p.Leu785=) c.863G>A c.2514G>A (p.Leu838=) c.*28+18835G>A (n.*28+18835G>A) c.2379G>A (p.Leu793=) c.1713G>A (p.Leu571=) | dbSNP |
| 7 | g.55191763G>C | CA454965602 | EGFR | c.2355G>C (p.Leu785=) c.863G>C c.2514G>C (p.Leu838=) c.*28+18835G>C (n.*28+18835G>C) c.2379G>C (p.Leu793=) c.1713G>C (p.Leu571=) | dbSNP |
| 7 | g.55191763G>T | CA454965604 | EGFR | c.2355G>T (p.Leu785=) c.863G>T c.2514G>T (p.Leu838=) c.*28+18835G>T (n.*28+18835G>T) c.2379G>T (p.Leu793=) c.1713G>T (p.Leu571=) | gnomAD v4 |
| 7 | g.55191764G>A | CA367580152 | EGFR | c.2356G>A (p.Ala786Thr) c.864G>A c.2515G>A (p.Ala839Thr) c.*28+18836G>A (n.*28+18836G>A) c.2380G>A (p.Ala794Thr) c.1714G>A (p.Ala572Thr) | dbSNP COSMIC |
| 7 | g.55191764G>C | CA367580153 | EGFR | c.2356G>C (p.Ala786Pro) c.864G>C c.2515G>C (p.Ala839Pro) c.*28+18836G>C (n.*28+18836G>C) c.2380G>C (p.Ala794Pro) c.1714G>C (p.Ala572Pro) | dbSNP |
| 7 | g.55191764G>T | CA367580154 | EGFR | c.2356G>T (p.Ala786Ser) c.864G>T c.2515G>T (p.Ala839Ser) c.*28+18836G>T (n.*28+18836G>T) c.2380G>T (p.Ala794Ser) c.1714G>T (p.Ala572Ser) | dbSNP |
| 7 | g.55191765C>A | CA367580155 | EGFR | c.2357C>A (p.Ala786Glu) c.865C>A c.2516C>A (p.Ala839Glu) c.*28+18837C>A (n.*28+18837C>A) c.2381C>A (p.Ala794Glu) c.1715C>A (p.Ala572Glu) | |
| 7 | g.55191765C>G | CA367580157 | EGFR | c.2357C>G (p.Ala786Gly) c.865C>G c.2516C>G (p.Ala839Gly) c.*28+18837C>G (n.*28+18837C>G) c.2381C>G (p.Ala794Gly) c.1715C>G (p.Ala572Gly) | dbSNP |
| 7 | g.55191765C>T | CA367580156 | EGFR | c.2357C>T (p.Ala786Val) c.865C>T c.2516C>T (p.Ala839Val) c.*28+18837C>T (n.*28+18837C>T) c.2381C>T (p.Ala794Val) c.1715C>T (p.Ala572Val) | dbSNP COSMIC |
| 7 | g.55191766A>C | CA454965605 | EGFR | c.2358A>C (p.Ala786=) c.866A>C c.2517A>C (p.Ala839=) c.*28+18838A>C (n.*28+18838A>C) c.2382A>C (p.Ala794=) c.1716A>C (p.Ala572=) | gnomAD v4 |
| 7 | g.55191766A>G | CA454965607 | EGFR | c.2358A>G (p.Ala786=) c.866A>G c.2517A>G (p.Ala839=) c.*28+18838A>G (n.*28+18838A>G) c.2382A>G (p.Ala794=) c.1716A>G (p.Ala572=) | |
| 7 | g.55191766A>T | CA454965606 | EGFR | c.2358A>T (p.Ala786=) c.866A>T c.2517A>T (p.Ala839=) c.*28+18838A>T (n.*28+18838A>T) c.2382A>T (p.Ala794=) c.1716A>T (p.Ala572=) | dbSNP |
| 7 | g.55191767G>A | CA4266111 | EGFR | c.2359G>A (p.Ala787Thr) c.867G>A c.2518G>A (p.Ala840Thr) c.*28+18839G>A (n.*28+18839G>A) c.2383G>A (p.Ala795Thr) c.1717G>A (p.Ala573Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191767G>C | CA367580158 | EGFR | c.2359G>C (p.Ala787Pro) c.867G>C c.2518G>C (p.Ala840Pro) c.*28+18839G>C (n.*28+18839G>C) c.2383G>C (p.Ala795Pro) c.1717G>C (p.Ala573Pro) | |
| 7 | g.55191767G= | CA1708922525 | EGFR | c.2359G= (p.Ala787=) c.867G= c.2518G= (p.Ala840=) c.*28+18839G= (n.*28+18839G=) c.2383G= (p.Ala795=) c.1717G= (p.Ala573=) | |
| 7 | g.55191767G>T | CA367580159 | EGFR | c.2359G>T (p.Ala787Ser) c.867G>T c.2518G>T (p.Ala840Ser) c.*28+18839G>T (n.*28+18839G>T) c.2383G>T (p.Ala795Ser) c.1717G>T (p.Ala573Ser) | |
| 7 | g.55191768C>A | CA367580160 | EGFR | c.2360C>A (p.Ala787Asp) c.868C>A c.2519C>A (p.Ala840Asp) c.*28+18840C>A (n.*28+18840C>A) c.2384C>A (p.Ala795Asp) c.1718C>A (p.Ala573Asp) | dbSNP |
| 7 | g.55191768C>G | CA367580161 | EGFR | c.2360C>G (p.Ala787Gly) c.868C>G c.2519C>G (p.Ala840Gly) c.*28+18840C>G (n.*28+18840C>G) c.2384C>G (p.Ala795Gly) c.1718C>G (p.Ala573Gly) | dbSNP gnomAD v4 |
| 7 | g.55191768C>T | CA367580162 | EGFR | c.2360C>T (p.Ala787Val) c.868C>T c.2519C>T (p.Ala840Val) c.*28+18840C>T (n.*28+18840C>T) c.2384C>T (p.Ala795Val) c.1718C>T (p.Ala573Val) | dbSNP |
| 7 | g.55191769C>A | CA454965608 | EGFR | c.2361C>A (p.Ala787=) c.869C>A c.2520C>A (p.Ala840=) c.*28+18841C>A (n.*28+18841C>A) c.2385C>A (p.Ala795=) c.1719C>A (p.Ala573=) | |
| 7 | g.55191769C>G | CA454965609 | EGFR | c.2361C>G (p.Ala787=) c.869C>G c.2520C>G (p.Ala840=) c.*28+18841C>G (n.*28+18841C>G) c.2385C>G (p.Ala795=) c.1719C>G (p.Ala573=) | dbSNP |
| 7 | g.55191769C>T | CA454965610 | EGFR | c.2361C>T (p.Ala787=) c.869C>T c.2520C>T (p.Ala840=) c.*28+18841C>T (n.*28+18841C>T) c.2385C>T (p.Ala795=) c.1719C>T (p.Ala573=) | dbSNP COSMIC |
| 7 | g.55191770A>C | CA454965611 | EGFR | c.2362A>C (p.Arg788=) c.870A>C c.2521A>C (p.Arg841=) c.*28+18842A>C (n.*28+18842A>C) c.2386A>C (p.Arg796=) c.1720A>C (p.Arg574=) | |
| 7 | g.55191770A>G | CA367580163 | EGFR | c.2362A>G (p.Arg788Gly) c.870A>G c.2521A>G (p.Arg841Gly) c.*28+18842A>G (n.*28+18842A>G) c.2386A>G (p.Arg796Gly) c.1720A>G (p.Arg574Gly) | |
| 7 | g.55191770A>T | CA367580164 | EGFR | c.2362A>T (p.Arg788Trp) c.870A>T c.2521A>T (p.Arg841Trp) c.*28+18842A>T (n.*28+18842A>T) c.2386A>T (p.Arg796Trp) c.1720A>T (p.Arg574Trp) | dbSNP |
| 7 | g.55191771G>A | CA367580165 | EGFR | c.2363G>A (p.Arg788Lys) c.871G>A c.2522G>A (p.Arg841Lys) c.*28+18843G>A (n.*28+18843G>A) c.2387G>A (p.Arg796Lys) c.1721G>A (p.Arg574Lys) | COSMIC |
| 7 | g.55191771G>C | CA367580166 | EGFR | c.2363G>C (p.Arg788Thr) c.871G>C c.2522G>C (p.Arg841Thr) c.*28+18843G>C (n.*28+18843G>C) c.2387G>C (p.Arg796Thr) c.1721G>C (p.Arg574Thr) | |
| 7 | g.55191771G>T | CA367580167 | EGFR | c.2363G>T (p.Arg788Met) c.871G>T c.2522G>T (p.Arg841Met) c.*28+18843G>T (n.*28+18843G>T) c.2387G>T (p.Arg796Met) c.1721G>T (p.Arg574Met) | |
| 7 | g.55191772G>A | CA454965612 | EGFR | c.2364G>A (p.Arg788=) c.872G>A c.2523G>A (p.Arg841=) c.*28+18844G>A (n.*28+18844G>A) c.2388G>A (p.Arg796=) c.1722G>A (p.Arg574=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191772G>C | CA4266112 | EGFR | c.2364G>C (p.Arg788Ser) c.872G>C c.2523G>C (p.Arg841Ser) c.*28+18844G>C (n.*28+18844G>C) c.2388G>C (p.Arg796Ser) c.1722G>C (p.Arg574Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55191772G= | CA1708922531 | EGFR | c.2364G= (p.Arg788=) c.872G= c.2523G= (p.Arg841=) c.*28+18844G= (n.*28+18844G=) c.2388G= (p.Arg796=) c.1722G= (p.Arg574=) | |
| 7 | g.55191772G>T | CA367580168 | EGFR | c.2364G>T (p.Arg788Ser) c.872G>T c.2523G>T (p.Arg841Ser) c.*28+18844G>T (n.*28+18844G>T) c.2388G>T (p.Arg796Ser) c.1722G>T (p.Arg574Ser) | dbSNP |
| 7 | g.55191773A= | CA1708922535 | EGFR | c.2365A= (p.Asn789=) c.873A= c.2524A= (p.Asn842=) c.*28+18845A= (n.*28+18845A=) c.2389A= (p.Asn797=) c.1723A= (p.Asn575=) | |
| 7 | g.55191773A>C | CA367580169 | EGFR | c.2365A>C (p.Asn789His) c.873A>C c.2524A>C (p.Asn842His) c.*28+18845A>C (n.*28+18845A>C) c.2389A>C (p.Asn797His) c.1723A>C (p.Asn575His) | dbSNP COSMIC |
| 7 | g.55191773A>G | CA158934194 | EGFR | c.2365A>G (p.Asn789Asp) c.873A>G c.2524A>G (p.Asn842Asp) c.*28+18845A>G (n.*28+18845A>G) c.2389A>G (p.Asn797Asp) c.1723A>G (p.Asn575Asp) | ClinVar dbSNP COSMIC |
| 7 | g.55191773A>T | CA367580170 | EGFR | c.2365A>T (p.Asn789Tyr) c.873A>T c.2524A>T (p.Asn842Tyr) c.*28+18845A>T (n.*28+18845A>T) c.2389A>T (p.Asn797Tyr) c.1723A>T (p.Asn575Tyr) | dbSNP |
| 7 | g.55191774A>C | CA367580171 | EGFR | c.2366A>C (p.Asn789Thr) c.874A>C c.2525A>C (p.Asn842Thr) c.*28+18846A>C (n.*28+18846A>C) c.2390A>C (p.Asn797Thr) c.1724A>C (p.Asn575Thr) | dbSNP |
| 7 | g.55191774A>G | CA367580172 | EGFR | c.2366A>G (p.Asn789Ser) c.874A>G c.2525A>G (p.Asn842Ser) c.*28+18846A>G (n.*28+18846A>G) c.2390A>G (p.Asn797Ser) c.1724A>G (p.Asn575Ser) | dbSNP |
| 7 | g.55191774A>T | CA367580173 | EGFR | c.2366A>T (p.Asn789Ile) c.874A>T c.2525A>T (p.Asn842Ile) c.*28+18846A>T (n.*28+18846A>T) c.2390A>T (p.Asn797Ile) c.1724A>T (p.Asn575Ile) | dbSNP |
| 7 | g.55191775C>A | CA367580174 | EGFR | c.2367C>A (p.Asn789Lys) c.875C>A c.2526C>A (p.Asn842Lys) c.*28+18847C>A (n.*28+18847C>A) c.2391C>A (p.Asn797Lys) c.1725C>A (p.Asn575Lys) | dbSNP |
| 7 | g.55191775C= | CA1708922541 | EGFR | c.2367C= (p.Asn789=) c.875C= c.2526C= (p.Asn842=) c.*28+18847C= (n.*28+18847C=) c.2391C= (p.Asn797=) c.1725C= (p.Asn575=) | |
| 7 | g.55191775C>G | CA367580175 | EGFR | c.2367C>G (p.Asn789Lys) c.875C>G c.2526C>G (p.Asn842Lys) c.*28+18847C>G (n.*28+18847C>G) c.2391C>G (p.Asn797Lys) c.1725C>G (p.Asn575Lys) | dbSNP |
| 7 | g.55191775C>T | CA454965615 | EGFR | c.2367C>T (p.Asn789=) c.875C>T c.2526C>T (p.Asn842=) c.*28+18847C>T (n.*28+18847C>T) c.2391C>T (p.Asn797=) c.1725C>T (p.Asn575=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.55191776G>A | CA16602666 | EGFR | c.2368G>A (p.Val790Ile) c.876G>A c.2527G>A (p.Val843Ile) c.*28+18848G>A (n.*28+18848G>A) c.2392G>A (p.Val798Ile) c.1726G>A (p.Val576Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.55191776G>C | CA367580176 | EGFR | c.2368G>C (p.Val790Leu) c.876G>C c.2527G>C (p.Val843Leu) c.*28+18848G>C (n.*28+18848G>C) c.2392G>C (p.Val798Leu) c.1726G>C (p.Val576Leu) | dbSNP gnomAD v4 COSMIC |
| 7 | g.55191776G= | CA1708922547 | EGFR | c.2368G= (p.Val790=) c.876G= c.2527G= (p.Val843=) c.*28+18848G= (n.*28+18848G=) c.2392G= (p.Val798=) c.1726G= (p.Val576=) | |
| 7 | g.55191776G>T | CA367580177 | EGFR | c.2368G>T (p.Val790Leu) c.876G>T c.2527G>T (p.Val843Leu) c.*28+18848G>T (n.*28+18848G>T) c.2392G>T (p.Val798Leu) c.1726G>T (p.Val576Leu) | COSMIC |
| 7 | g.55191777T>A | CA367580178 | EGFR | c.2369T>A (p.Val790Glu) c.877T>A c.2528T>A (p.Val843Glu) c.*28+18849T>A (n.*28+18849T>A) c.2393T>A (p.Val798Glu) c.1727T>A (p.Val576Glu) | dbSNP |