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 |
|---|---|---|---|---|---|
| 6 | g.152061080G>A | CA366213911 | ESR1 | c.1325G>A (p.Gly442Glu) c.43-33399G>A (n.43-33399G>A) n.653G>A c.542G>A (p.Gly181Glu) c.806G>A (p.Gly269Glu) c.*200G>A (n.*200G>A) c.1331G>A (p.Gly444Glu) c.1322G>A (p.Gly441Glu) c.596G>A (p.Gly199Glu) c.668G>A (p.Gly223Glu) c.536G>A (p.Gly179Glu) n.1556G>A | dbSNP |
| 6 | g.152061080G>C | CA366213909 | ESR1 | c.1325G>C (p.Gly442Ala) c.43-33399G>C (n.43-33399G>C) n.653G>C c.542G>C (p.Gly181Ala) c.806G>C (p.Gly269Ala) c.*200G>C (n.*200G>C) c.1331G>C (p.Gly444Ala) c.1322G>C (p.Gly441Ala) c.596G>C (p.Gly199Ala) c.668G>C (p.Gly223Ala) c.536G>C (p.Gly179Ala) n.1556G>C | dbSNP |
| 6 | g.152061080G>T | CA366213910 | ESR1 | c.1325G>T (p.Gly442Val) c.43-33399G>T (n.43-33399G>T) n.653G>T c.542G>T (p.Gly181Val) c.806G>T (p.Gly269Val) c.*200G>T (n.*200G>T) c.1331G>T (p.Gly444Val) c.1322G>T (p.Gly441Val) c.596G>T (p.Gly199Val) c.668G>T (p.Gly223Val) c.536G>T (p.Gly179Val) n.1556G>T | |
| 6 | g.152061081A>C | CA452893376 | ESR1 | c.1326A>C (p.Gly442=) c.43-33398A>C (n.43-33398A>C) n.654A>C c.543A>C (p.Gly181=) c.807A>C (p.Gly269=) c.*201A>C (n.*201A>C) c.1332A>C (p.Gly444=) c.1323A>C (p.Gly441=) c.597A>C (p.Gly199=) c.669A>C (p.Gly223=) c.537A>C (p.Gly179=) n.1557A>C | |
| 6 | g.152061081A>G | CA452893374 | ESR1 | c.1326A>G (p.Gly442=) c.43-33398A>G (n.43-33398A>G) n.654A>G c.543A>G (p.Gly181=) c.807A>G (p.Gly269=) c.*201A>G (n.*201A>G) c.1332A>G (p.Gly444=) c.1323A>G (p.Gly441=) c.597A>G (p.Gly199=) c.669A>G (p.Gly223=) c.537A>G (p.Gly179=) n.1557A>G | |
| 6 | g.152061081A>T | CA452893375 | ESR1 | c.1326A>T (p.Gly442=) c.43-33398A>T (n.43-33398A>T) n.654A>T c.543A>T (p.Gly181=) c.807A>T (p.Gly269=) c.*201A>T (n.*201A>T) c.1332A>T (p.Gly444=) c.1323A>T (p.Gly441=) c.597A>T (p.Gly199=) c.669A>T (p.Gly223=) c.537A>T (p.Gly179=) n.1557A>T | dbSNP |
| 6 | g.152061082G>A | CA366213912 | ESR1 | c.1327G>A (p.Glu443Lys) c.43-33397G>A (n.43-33397G>A) n.655G>A c.544G>A (p.Glu182Lys) c.808G>A (p.Glu270Lys) c.*202G>A (n.*202G>A) c.1333G>A (p.Glu445Lys) c.1324G>A (p.Glu442Lys) c.598G>A (p.Glu200Lys) c.670G>A (p.Glu224Lys) c.538G>A (p.Glu180Lys) n.1558G>A | dbSNP |
| 6 | g.152061082G>C | CA366213913 | ESR1 | c.1327G>C (p.Glu443Gln) c.43-33397G>C (n.43-33397G>C) n.655G>C c.544G>C (p.Glu182Gln) c.808G>C (p.Glu270Gln) c.*202G>C (n.*202G>C) c.1333G>C (p.Glu445Gln) c.1324G>C (p.Glu442Gln) c.598G>C (p.Glu200Gln) c.670G>C (p.Glu224Gln) c.538G>C (p.Glu180Gln) n.1558G>C | dbSNP |
| 6 | g.152061082G>T | CA366213914 | ESR1 | c.1327G>T (p.Glu443Ter) c.43-33397G>T (n.43-33397G>T) n.655G>T c.544G>T (p.Glu182Ter) c.808G>T (p.Glu270Ter) c.*202G>T (n.*202G>T) c.1333G>T (p.Glu445Ter) c.1324G>T (p.Glu442Ter) c.598G>T (p.Glu200Ter) c.670G>T (p.Glu224Ter) c.538G>T (p.Glu180Ter) n.1558G>T | dbSNP |
| 6 | g.152061083A>C | CA366213915 | ESR1 | c.1328A>C (p.Glu443Ala) c.43-33396A>C (n.43-33396A>C) n.656A>C c.545A>C (p.Glu182Ala) c.809A>C (p.Glu270Ala) c.*203A>C (n.*203A>C) c.1334A>C (p.Glu445Ala) c.1325A>C (p.Glu442Ala) c.599A>C (p.Glu200Ala) c.671A>C (p.Glu224Ala) c.539A>C (p.Glu180Ala) n.1559A>C | |
| 6 | g.152061083A>G | CA366213916 | ESR1 | c.1328A>G (p.Glu443Gly) c.43-33396A>G (n.43-33396A>G) n.656A>G c.545A>G (p.Glu182Gly) c.809A>G (p.Glu270Gly) c.*203A>G (n.*203A>G) c.1334A>G (p.Glu445Gly) c.1325A>G (p.Glu442Gly) c.599A>G (p.Glu200Gly) c.671A>G (p.Glu224Gly) c.539A>G (p.Glu180Gly) n.1559A>G | dbSNP |
| 6 | g.152061083A>T | CA366213917 | ESR1 | c.1328A>T (p.Glu443Val) c.43-33396A>T (n.43-33396A>T) n.656A>T c.545A>T (p.Glu182Val) c.809A>T (p.Glu270Val) c.*203A>T (n.*203A>T) c.1334A>T (p.Glu445Val) c.1325A>T (p.Glu442Val) c.599A>T (p.Glu200Val) c.671A>T (p.Glu224Val) c.539A>T (p.Glu180Val) n.1559A>T | dbSNP |
| 6 | g.152061084G>A | CA452893377 | ESR1 | c.1329G>A (p.Glu443=) c.43-33395G>A (n.43-33395G>A) n.657G>A c.546G>A (p.Glu182=) c.810G>A (p.Glu270=) c.*204G>A (n.*204G>A) c.1335G>A (p.Glu445=) c.1326G>A (p.Glu442=) c.600G>A (p.Glu200=) c.672G>A (p.Glu224=) c.540G>A (p.Glu180=) n.1560G>A | |
| 6 | g.152061084G>C | CA366213918 | ESR1 | c.1329G>C (p.Glu443Asp) c.43-33395G>C (n.43-33395G>C) n.657G>C c.546G>C (p.Glu182Asp) c.810G>C (p.Glu270Asp) c.*204G>C (n.*204G>C) c.1335G>C (p.Glu445Asp) c.1326G>C (p.Glu442Asp) c.600G>C (p.Glu200Asp) c.672G>C (p.Glu224Asp) c.540G>C (p.Glu180Asp) n.1560G>C | dbSNP |
| 6 | g.152061084G>T | CA366213919 | ESR1 | c.1329G>T (p.Glu443Asp) c.43-33395G>T (n.43-33395G>T) n.657G>T c.546G>T (p.Glu182Asp) c.810G>T (p.Glu270Asp) c.*204G>T (n.*204G>T) c.1335G>T (p.Glu445Asp) c.1326G>T (p.Glu442Asp) c.600G>T (p.Glu200Asp) c.672G>T (p.Glu224Asp) c.540G>T (p.Glu180Asp) n.1560G>T | |
| 6 | g.152061085G>A | CA366213920 | ESR1 | c.1330G>A (p.Glu444Lys) c.43-33394G>A (n.43-33394G>A) n.658G>A c.547G>A (p.Glu183Lys) c.811G>A (p.Glu271Lys) c.*205G>A (n.*205G>A) c.1336G>A (p.Glu446Lys) c.1327G>A (p.Glu443Lys) c.601G>A (p.Glu201Lys) c.673G>A (p.Glu225Lys) c.541G>A (p.Glu181Lys) n.1561G>A | dbSNP |
| 6 | g.152061085G>C | CA366213921 | ESR1 | c.1330G>C (p.Glu444Gln) c.43-33394G>C (n.43-33394G>C) n.658G>C c.547G>C (p.Glu183Gln) c.811G>C (p.Glu271Gln) c.*205G>C (n.*205G>C) c.1336G>C (p.Glu446Gln) c.1327G>C (p.Glu443Gln) c.601G>C (p.Glu201Gln) c.673G>C (p.Glu225Gln) c.541G>C (p.Glu181Gln) n.1561G>C | dbSNP |
| 6 | g.152061085G>T | CA366213922 | ESR1 | c.1330G>T (p.Glu444Ter) c.43-33394G>T (n.43-33394G>T) n.658G>T c.547G>T (p.Glu183Ter) c.811G>T (p.Glu271Ter) c.*205G>T (n.*205G>T) c.1336G>T (p.Glu446Ter) c.1327G>T (p.Glu443Ter) c.601G>T (p.Glu201Ter) c.673G>T (p.Glu225Ter) c.541G>T (p.Glu181Ter) n.1561G>T | dbSNP |
| 6 | g.152061086A>C | CA366213923 | ESR1 | c.1331A>C (p.Glu444Ala) c.43-33393A>C (n.43-33393A>C) n.659A>C c.548A>C (p.Glu183Ala) c.812A>C (p.Glu271Ala) c.*206A>C (n.*206A>C) c.1337A>C (p.Glu446Ala) c.1328A>C (p.Glu443Ala) c.602A>C (p.Glu201Ala) c.674A>C (p.Glu225Ala) c.542A>C (p.Glu181Ala) n.1562A>C | |
| 6 | g.152061086A>G | CA366213925 | ESR1 | c.1331A>G (p.Glu444Gly) c.43-33393A>G (n.43-33393A>G) n.659A>G c.548A>G (p.Glu183Gly) c.812A>G (p.Glu271Gly) c.*206A>G (n.*206A>G) c.1337A>G (p.Glu446Gly) c.1328A>G (p.Glu443Gly) c.602A>G (p.Glu201Gly) c.674A>G (p.Glu225Gly) c.542A>G (p.Glu181Gly) n.1562A>G | |
| 6 | g.152061086A>T | CA366213924 | ESR1 | c.1331A>T (p.Glu444Val) c.43-33393A>T (n.43-33393A>T) n.659A>T c.548A>T (p.Glu183Val) c.812A>T (p.Glu271Val) c.*206A>T (n.*206A>T) c.1337A>T (p.Glu446Val) c.1328A>T (p.Glu443Val) c.602A>T (p.Glu201Val) c.674A>T (p.Glu225Val) c.542A>T (p.Glu181Val) n.1562A>T | dbSNP |
| 6 | g.152061087G>A | CA452893378 | ESR1 | c.1332G>A (p.Glu444=) c.43-33392G>A (n.43-33392G>A) n.660G>A c.549G>A (p.Glu183=) c.813G>A (p.Glu271=) c.*207G>A (n.*207G>A) c.1338G>A (p.Glu446=) c.1329G>A (p.Glu443=) c.603G>A (p.Glu201=) c.675G>A (p.Glu225=) c.543G>A (p.Glu181=) n.1563G>A | dbSNP COSMIC COSMIC |
| 6 | g.152061087G>C | CA366213926 | ESR1 | c.1332G>C (p.Glu444Asp) c.43-33392G>C (n.43-33392G>C) n.660G>C c.549G>C (p.Glu183Asp) c.813G>C (p.Glu271Asp) c.*207G>C (n.*207G>C) c.1338G>C (p.Glu446Asp) c.1329G>C (p.Glu443Asp) c.603G>C (p.Glu201Asp) c.675G>C (p.Glu225Asp) c.543G>C (p.Glu181Asp) n.1563G>C | dbSNP |
| 6 | g.152061087G>T | CA366213927 | ESR1 | c.1332G>T (p.Glu444Asp) c.43-33392G>T (n.43-33392G>T) n.660G>T c.549G>T (p.Glu183Asp) c.813G>T (p.Glu271Asp) c.*207G>T (n.*207G>T) c.1338G>T (p.Glu446Asp) c.1329G>T (p.Glu443Asp) c.603G>T (p.Glu201Asp) c.675G>T (p.Glu225Asp) c.543G>T (p.Glu181Asp) n.1563G>T | |
| 6 | g.152061088T>A | CA366213928 | ESR1 | c.1333T>A (p.Phe445Ile) c.43-33391T>A (n.43-33391T>A) n.661T>A c.550T>A (p.Phe184Ile) c.814T>A (p.Phe272Ile) c.*208T>A (n.*208T>A) c.1339T>A (p.Phe447Ile) c.1330T>A (p.Phe444Ile) c.604T>A (p.Phe202Ile) c.676T>A (p.Phe226Ile) c.544T>A (p.Phe182Ile) n.1564T>A | dbSNP |
| 6 | g.152061088T>C | CA366213929 | ESR1 | c.1333T>C (p.Phe445Leu) c.43-33391T>C (n.43-33391T>C) n.661T>C c.550T>C (p.Phe184Leu) c.814T>C (p.Phe272Leu) c.*208T>C (n.*208T>C) c.1339T>C (p.Phe447Leu) c.1330T>C (p.Phe444Leu) c.604T>C (p.Phe202Leu) c.676T>C (p.Phe226Leu) c.544T>C (p.Phe182Leu) n.1564T>C | |
| 6 | g.152061088T>G | CA366213930 | ESR1 | c.1333T>G (p.Phe445Val) c.43-33391T>G (n.43-33391T>G) n.661T>G c.550T>G (p.Phe184Val) c.814T>G (p.Phe272Val) c.*208T>G (n.*208T>G) c.1339T>G (p.Phe447Val) c.1330T>G (p.Phe444Val) c.604T>G (p.Phe202Val) c.676T>G (p.Phe226Val) c.544T>G (p.Phe182Val) n.1564T>G | dbSNP |
| 6 | g.152061088T= | CA1673172623 | ESR1 | c.1333T= (p.Phe445=) c.43-33391T= (n.43-33391T=) n.661T= c.550T= (p.Phe184=) c.814T= (p.Phe272=) c.*208T= (n.*208T=) c.1339T= (p.Phe447=) c.1330T= (p.Phe444=) c.604T= (p.Phe202=) c.676T= (p.Phe226=) c.544T= (p.Phe182=) n.1564T= | |
| 6 | g.152061089T>A | CA366213931 | ESR1 | c.1334T>A (p.Phe445Tyr) c.43-33390T>A (n.43-33390T>A) n.662T>A c.551T>A (p.Phe184Tyr) c.815T>A (p.Phe272Tyr) c.*209T>A (n.*209T>A) c.1340T>A (p.Phe447Tyr) c.1331T>A (p.Phe444Tyr) c.605T>A (p.Phe202Tyr) c.677T>A (p.Phe226Tyr) c.545T>A (p.Phe182Tyr) n.1565T>A | dbSNP |
| 6 | g.152061089T>C | CA366213932 | ESR1 | c.1334T>C (p.Phe445Ser) c.43-33390T>C (n.43-33390T>C) n.662T>C c.551T>C (p.Phe184Ser) c.815T>C (p.Phe272Ser) c.*209T>C (n.*209T>C) c.1340T>C (p.Phe447Ser) c.1331T>C (p.Phe444Ser) c.605T>C (p.Phe202Ser) c.677T>C (p.Phe226Ser) c.545T>C (p.Phe182Ser) n.1565T>C | |
| 6 | g.152061089T>G | CA366213933 | ESR1 | c.1334T>G (p.Phe445Cys) c.43-33390T>G (n.43-33390T>G) n.662T>G c.551T>G (p.Phe184Cys) c.815T>G (p.Phe272Cys) c.*209T>G (n.*209T>G) c.1340T>G (p.Phe447Cys) c.1331T>G (p.Phe444Cys) c.605T>G (p.Phe202Cys) c.677T>G (p.Phe226Cys) c.545T>G (p.Phe182Cys) n.1565T>G | dbSNP |
| 6 | g.152061090T>A | CA366213934 | ESR1 | c.1335T>A (p.Phe445Leu) c.43-33389T>A (n.43-33389T>A) n.663T>A c.552T>A (p.Phe184Leu) c.816T>A (p.Phe272Leu) c.*210T>A (n.*210T>A) c.1341T>A (p.Phe447Leu) c.1332T>A (p.Phe444Leu) c.606T>A (p.Phe202Leu) c.678T>A (p.Phe226Leu) c.546T>A (p.Phe182Leu) n.1566T>A | dbSNP |
| 6 | g.152061090T>C | CA452893379 | ESR1 | c.1335T>C (p.Phe445=) c.43-33389T>C (n.43-33389T>C) n.663T>C c.552T>C (p.Phe184=) c.816T>C (p.Phe272=) c.*210T>C (n.*210T>C) c.1341T>C (p.Phe447=) c.1332T>C (p.Phe444=) c.606T>C (p.Phe202=) c.678T>C (p.Phe226=) c.546T>C (p.Phe182=) n.1566T>C | |
| 6 | g.152061090T>G | CA366213935 | ESR1 | c.1335T>G (p.Phe445Leu) c.43-33389T>G (n.43-33389T>G) n.663T>G c.552T>G (p.Phe184Leu) c.816T>G (p.Phe272Leu) c.*210T>G (n.*210T>G) c.1341T>G (p.Phe447Leu) c.1332T>G (p.Phe444Leu) c.606T>G (p.Phe202Leu) c.678T>G (p.Phe226Leu) c.546T>G (p.Phe182Leu) n.1566T>G | |
| 6 | g.152061091G>A | CA366213936 | ESR1 | c.1336G>A (p.Val446Met) c.43-33388G>A (n.43-33388G>A) n.664G>A c.553G>A (p.Val185Met) c.817G>A (p.Val273Met) c.*211G>A (n.*211G>A) c.1342G>A (p.Val448Met) c.1333G>A (p.Val445Met) c.607G>A (p.Val203Met) c.679G>A (p.Val227Met) c.547G>A (p.Val183Met) n.1567G>A | dbSNP |
| 6 | g.152061091G>C | CA366213937 | ESR1 | c.1336G>C (p.Val446Leu) c.43-33388G>C (n.43-33388G>C) n.664G>C c.553G>C (p.Val185Leu) c.817G>C (p.Val273Leu) c.*211G>C (n.*211G>C) c.1342G>C (p.Val448Leu) c.1333G>C (p.Val445Leu) c.607G>C (p.Val203Leu) c.679G>C (p.Val227Leu) c.547G>C (p.Val183Leu) n.1567G>C | dbSNP |
| 6 | g.152061091G>T | CA366213938 | ESR1 | c.1336G>T (p.Val446Leu) c.43-33388G>T (n.43-33388G>T) n.664G>T c.553G>T (p.Val185Leu) c.817G>T (p.Val273Leu) c.*211G>T (n.*211G>T) c.1342G>T (p.Val448Leu) c.1333G>T (p.Val445Leu) c.607G>T (p.Val203Leu) c.679G>T (p.Val227Leu) c.547G>T (p.Val183Leu) n.1567G>T | gnomAD v4 |
| 6 | g.152061092T>A | CA366213941 | ESR1 | c.1337T>A (p.Val446Glu) c.43-33387T>A (n.43-33387T>A) n.665T>A c.554T>A (p.Val185Glu) c.818T>A (p.Val273Glu) c.*212T>A (n.*212T>A) c.1343T>A (p.Val448Glu) c.1334T>A (p.Val445Glu) c.608T>A (p.Val203Glu) c.680T>A (p.Val227Glu) c.548T>A (p.Val183Glu) n.1568T>A | dbSNP |
| 6 | g.152061092T>C | CA366213940 | ESR1 | c.1337T>C (p.Val446Ala) c.43-33387T>C (n.43-33387T>C) n.665T>C c.554T>C (p.Val185Ala) c.818T>C (p.Val273Ala) c.*212T>C (n.*212T>C) c.1343T>C (p.Val448Ala) c.1334T>C (p.Val445Ala) c.608T>C (p.Val203Ala) c.680T>C (p.Val227Ala) c.548T>C (p.Val183Ala) n.1568T>C | |
| 6 | g.152061092T>G | CA366213939 | ESR1 | c.1337T>G (p.Val446Gly) c.43-33387T>G (n.43-33387T>G) n.665T>G c.554T>G (p.Val185Gly) c.818T>G (p.Val273Gly) c.*212T>G (n.*212T>G) c.1343T>G (p.Val448Gly) c.1334T>G (p.Val445Gly) c.608T>G (p.Val203Gly) c.680T>G (p.Val227Gly) c.548T>G (p.Val183Gly) n.1568T>G | dbSNP |
| 6 | g.152061093G>A | CA452893380 | ESR1 | c.1338G>A (p.Val446=) c.43-33386G>A (n.43-33386G>A) n.666G>A c.555G>A (p.Val185=) c.819G>A (p.Val273=) c.*213G>A (n.*213G>A) c.1344G>A (p.Val448=) c.1335G>A (p.Val445=) c.609G>A (p.Val203=) c.681G>A (p.Val227=) c.549G>A (p.Val183=) n.1569G>A | dbSNP |
| 6 | g.152061093G>C | CA452893381 | ESR1 | c.1338G>C (p.Val446=) c.43-33386G>C (n.43-33386G>C) n.666G>C c.555G>C (p.Val185=) c.819G>C (p.Val273=) c.*213G>C (n.*213G>C) c.1344G>C (p.Val448=) c.1335G>C (p.Val445=) c.609G>C (p.Val203=) c.681G>C (p.Val227=) c.549G>C (p.Val183=) n.1569G>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152061093G= | CA1673172625 | ESR1 | c.1338G= (p.Val446=) c.43-33386G= (n.43-33386G=) n.666G= c.555G= (p.Val185=) c.819G= (p.Val273=) c.*213G= (n.*213G=) c.1344G= (p.Val448=) c.1335G= (p.Val445=) c.609G= (p.Val203=) c.681G= (p.Val227=) c.549G= (p.Val183=) n.1569G= | |
| 6 | g.152061093G>T | CA452893382 | ESR1 | c.1338G>T (p.Val446=) c.43-33386G>T (n.43-33386G>T) n.666G>T c.555G>T (p.Val185=) c.819G>T (p.Val273=) c.*213G>T (n.*213G>T) c.1344G>T (p.Val448=) c.1335G>T (p.Val445=) c.609G>T (p.Val203=) c.681G>T (p.Val227=) c.549G>T (p.Val183=) n.1569G>T | |
| 6 | g.152061094T>A | CA366213942 | ESR1 | c.1339T>A (p.Cys447Ser) c.43-33385T>A (n.43-33385T>A) n.667T>A c.556T>A (p.Cys186Ser) c.820T>A (p.Cys274Ser) c.*214T>A (n.*214T>A) c.1345T>A (p.Cys449Ser) c.1336T>A (p.Cys446Ser) c.610T>A (p.Cys204Ser) c.682T>A (p.Cys228Ser) c.550T>A (p.Cys184Ser) n.1570T>A | dbSNP |
| 6 | g.152061094T>C | CA366213943 | ESR1 | c.1339T>C (p.Cys447Arg) c.43-33385T>C (n.43-33385T>C) n.667T>C c.556T>C (p.Cys186Arg) c.820T>C (p.Cys274Arg) c.*214T>C (n.*214T>C) c.1345T>C (p.Cys449Arg) c.1336T>C (p.Cys446Arg) c.610T>C (p.Cys204Arg) c.682T>C (p.Cys228Arg) c.550T>C (p.Cys184Arg) n.1570T>C | |
| 6 | g.152061094T>G | CA366213944 | ESR1 | c.1339T>G (p.Cys447Gly) c.43-33385T>G (n.43-33385T>G) n.667T>G c.556T>G (p.Cys186Gly) c.820T>G (p.Cys274Gly) c.*214T>G (n.*214T>G) c.1345T>G (p.Cys449Gly) c.1336T>G (p.Cys446Gly) c.610T>G (p.Cys204Gly) c.682T>G (p.Cys228Gly) c.550T>G (p.Cys184Gly) n.1570T>G | |
| 6 | g.152061094_152061095delinsGC | CA126692 | ESR1 | c.1339_1340delinsGC (p.Cys447Ala) c.43-33385_43-33384delinsGC (n.43-33385_43-33384delinsGC) n.667_668delinsGC c.556_557delinsGC (p.Cys186Ala) c.820_821delinsGC (p.Cys274Ala) c.*214_*215delinsGC (n.*214_*215delinsGC) c.1345_1346delinsGC (p.Cys449Ala) c.1336_1337delinsGC (p.Cys446Ala) c.610_611delinsGC (p.Cys204Ala) c.682_683delinsGC (p.Cys228Ala) c.550_551delinsGC (p.Cys184Ala) n.1570_1571delinsGC | ClinVar dbSNP |
| 6 | g.152061094_152061095delinsTG | CA1673172629 | ESR1 | c.1339_1340delinsTG (p.Cys447=) c.43-33385_43-33384delinsTG (n.43-33385_43-33384delinsTG) n.667_668delinsTG c.556_557delinsTG (p.Cys186=) c.820_821delinsTG (p.Cys274=) c.*214_*215delinsTG (n.*214_*215delinsTG) c.1345_1346delinsTG (p.Cys449=) c.1336_1337delinsTG (p.Cys446=) c.610_611delinsTG (p.Cys204=) c.682_683delinsTG (p.Cys228=) c.550_551delinsTG (p.Cys184=) n.1570_1571delinsTG | |
| 6 | g.152061095G>A | CA366213945 | ESR1 | c.1340G>A (p.Cys447Tyr) c.43-33384G>A (n.43-33384G>A) n.668G>A c.557G>A (p.Cys186Tyr) c.821G>A (p.Cys274Tyr) c.*215G>A (n.*215G>A) c.1346G>A (p.Cys449Tyr) c.1337G>A (p.Cys446Tyr) c.611G>A (p.Cys204Tyr) c.683G>A (p.Cys228Tyr) c.551G>A (p.Cys184Tyr) n.1571G>A | dbSNP |