Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152061012G>A | CA452893330 | ESR1 | c.1257G>A (p.Glu419=) c.43-33467G>A (n.43-33467G>A) n.585G>A c.474G>A (p.Glu158=) c.276G>A (p.Glu92=) c.738G>A (p.Glu246=) c.*132G>A (n.*132G>A) c.1263G>A (p.Glu421=) c.1254G>A (p.Glu418=) c.528G>A (p.Glu176=) c.600G>A (p.Glu200=) c.468G>A (p.Glu156=) n.1488G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061012G>C | CA366213759 | ESR1 | c.1257G>C (p.Glu419Asp) c.43-33467G>C (n.43-33467G>C) n.585G>C c.474G>C (p.Glu158Asp) c.276G>C (p.Glu92Asp) c.738G>C (p.Glu246Asp) c.*132G>C (n.*132G>C) c.1263G>C (p.Glu421Asp) c.1254G>C (p.Glu418Asp) c.528G>C (p.Glu176Asp) c.600G>C (p.Glu200Asp) c.468G>C (p.Glu156Asp) n.1488G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061012G= | CA1673172566 | ESR1 | c.1257G= (p.Glu419=) c.43-33467G= (n.43-33467G=) n.585G= c.474G= (p.Glu158=) c.276G= (p.Glu92=) c.738G= (p.Glu246=) c.*132G= (n.*132G=) c.1263G= (p.Glu421=) c.1254G= (p.Glu418=) c.528G= (p.Glu176=) c.600G= (p.Glu200=) c.468G= (p.Glu156=) n.1488G= | |
6 | g.152061012G>T | CA366213760 | ESR1 | c.1257G>T (p.Glu419Asp) c.43-33467G>T (n.43-33467G>T) n.585G>T c.474G>T (p.Glu158Asp) c.276G>T (p.Glu92Asp) c.738G>T (p.Glu246Asp) c.*132G>T (n.*132G>T) c.1263G>T (p.Glu421Asp) c.1254G>T (p.Glu418Asp) c.528G>T (p.Glu176Asp) c.600G>T (p.Glu200Asp) c.468G>T (p.Glu156Asp) n.1488G>T | dbSNP COSMIC COSMIC |
6 | g.152061013G>A | CA366213763 | ESR1 | c.1258G>A (p.Gly420Ser) c.43-33466G>A (n.43-33466G>A) n.586G>A c.475G>A (p.Gly159Ser) c.277G>A (p.Gly93Ser) c.739G>A (p.Gly247Ser) c.*133G>A (n.*133G>A) c.1264G>A (p.Gly422Ser) c.1255G>A (p.Gly419Ser) c.529G>A (p.Gly177Ser) c.601G>A (p.Gly201Ser) c.469G>A (p.Gly157Ser) n.1489G>A | dbSNP |
6 | g.152061013G>C | CA366213761 | ESR1 | c.1258G>C (p.Gly420Arg) c.43-33466G>C (n.43-33466G>C) n.586G>C c.475G>C (p.Gly159Arg) c.277G>C (p.Gly93Arg) c.739G>C (p.Gly247Arg) c.*133G>C (n.*133G>C) c.1264G>C (p.Gly422Arg) c.1255G>C (p.Gly419Arg) c.529G>C (p.Gly177Arg) c.601G>C (p.Gly201Arg) c.469G>C (p.Gly157Arg) n.1489G>C | dbSNP |
6 | g.152061013G>T | CA366213762 | ESR1 | c.1258G>T (p.Gly420Cys) c.43-33466G>T (n.43-33466G>T) n.586G>T c.475G>T (p.Gly159Cys) c.277G>T (p.Gly93Cys) c.739G>T (p.Gly247Cys) c.*133G>T (n.*133G>T) c.1264G>T (p.Gly422Cys) c.1255G>T (p.Gly419Cys) c.529G>T (p.Gly177Cys) c.601G>T (p.Gly201Cys) c.469G>T (p.Gly157Cys) n.1489G>T | dbSNP |
6 | g.152061014G>A | CA366213764 | ESR1 | c.1259G>A (p.Gly420Asp) c.43-33465G>A (n.43-33465G>A) n.587G>A c.476G>A (p.Gly159Asp) c.278G>A (p.Gly93Asp) c.740G>A (p.Gly247Asp) c.*134G>A (n.*134G>A) c.1265G>A (p.Gly422Asp) c.1256G>A (p.Gly419Asp) c.530G>A (p.Gly177Asp) c.602G>A (p.Gly201Asp) c.470G>A (p.Gly157Asp) n.1490G>A | dbSNP |
6 | g.152061014G>C | CA366213765 | ESR1 | c.1259G>C (p.Gly420Ala) c.43-33465G>C (n.43-33465G>C) n.587G>C c.476G>C (p.Gly159Ala) c.278G>C (p.Gly93Ala) c.740G>C (p.Gly247Ala) c.*134G>C (n.*134G>C) c.1265G>C (p.Gly422Ala) c.1256G>C (p.Gly419Ala) c.530G>C (p.Gly177Ala) c.602G>C (p.Gly201Ala) c.470G>C (p.Gly157Ala) n.1490G>C | dbSNP |
6 | g.152061014G>T | CA366213766 | ESR1 | c.1259G>T (p.Gly420Val) c.43-33465G>T (n.43-33465G>T) n.587G>T c.476G>T (p.Gly159Val) c.278G>T (p.Gly93Val) c.740G>T (p.Gly247Val) c.*134G>T (n.*134G>T) c.1265G>T (p.Gly422Val) c.1256G>T (p.Gly419Val) c.530G>T (p.Gly177Val) c.602G>T (p.Gly201Val) c.470G>T (p.Gly157Val) n.1490G>T | dbSNP gnomAD v4 |
6 | g.152061015C>A | CA452893331 | ESR1 | c.1260C>A (p.Gly420=) c.43-33464C>A (n.43-33464C>A) n.588C>A c.477C>A (p.Gly159=) c.279C>A (p.Gly93=) c.741C>A (p.Gly247=) c.*135C>A (n.*135C>A) c.1266C>A (p.Gly422=) c.1257C>A (p.Gly419=) c.531C>A (p.Gly177=) c.603C>A (p.Gly201=) c.471C>A (p.Gly157=) n.1491C>A | dbSNP |
6 | g.152061015C= | CA1673172568 | ESR1 | c.1260C= (p.Gly420=) c.43-33464C= (n.43-33464C=) n.588C= c.477C= (p.Gly159=) c.279C= (p.Gly93=) c.741C= (p.Gly247=) c.*135C= (n.*135C=) c.1266C= (p.Gly422=) c.1257C= (p.Gly419=) c.531C= (p.Gly177=) c.603C= (p.Gly201=) c.471C= (p.Gly157=) n.1491C= | |
6 | g.152061015C>G | CA452893332 | ESR1 | c.1260C>G (p.Gly420=) c.43-33464C>G (n.43-33464C>G) n.588C>G c.477C>G (p.Gly159=) c.279C>G (p.Gly93=) c.741C>G (p.Gly247=) c.*135C>G (n.*135C>G) c.1266C>G (p.Gly422=) c.1257C>G (p.Gly419=) c.531C>G (p.Gly177=) c.603C>G (p.Gly201=) c.471C>G (p.Gly157=) n.1491C>G | dbSNP |
6 | g.152061015C>T | CA452893333 | ESR1 | c.1260C>T (p.Gly420=) c.43-33464C>T (n.43-33464C>T) n.588C>T c.477C>T (p.Gly159=) c.279C>T (p.Gly93=) c.741C>T (p.Gly247=) c.*135C>T (n.*135C>T) c.1266C>T (p.Gly422=) c.1257C>T (p.Gly419=) c.531C>T (p.Gly177=) c.603C>T (p.Gly201=) c.471C>T (p.Gly157=) n.1491C>T | dbSNP gnomAD v4 |
6 | g.152061016A= | CA1673172570 | ESR1 | c.1261A= (p.Met421=) c.43-33463A= (n.43-33463A=) n.589A= c.478A= (p.Met160=) c.280A= (p.Met94=) c.742A= (p.Met248=) c.*136A= (n.*136A=) c.1267A= (p.Met423=) c.1258A= (p.Met420=) c.532A= (p.Met178=) c.604A= (p.Met202=) c.472A= (p.Met158=) n.1492A= | |
6 | g.152061016A>C | CA366213767 | ESR1 | c.1261A>C (p.Met421Leu) c.43-33463A>C (n.43-33463A>C) n.589A>C c.478A>C (p.Met160Leu) c.280A>C (p.Met94Leu) c.742A>C (p.Met248Leu) c.*136A>C (n.*136A>C) c.1267A>C (p.Met423Leu) c.1258A>C (p.Met420Leu) c.532A>C (p.Met178Leu) c.604A>C (p.Met202Leu) c.472A>C (p.Met158Leu) n.1492A>C | |
6 | g.152061016A>G | CA366213768 | ESR1 | c.1261A>G (p.Met421Val) c.43-33463A>G (n.43-33463A>G) n.589A>G c.478A>G (p.Met160Val) c.280A>G (p.Met94Val) c.742A>G (p.Met248Val) c.*136A>G (n.*136A>G) c.1267A>G (p.Met423Val) c.1258A>G (p.Met420Val) c.532A>G (p.Met178Val) c.604A>G (p.Met202Val) c.472A>G (p.Met158Val) n.1492A>G | gnomAD v4 |
6 | g.152061016A>T | CA4052403 | ESR1 | c.1261A>T (p.Met421Leu) c.43-33463A>T (n.43-33463A>T) n.589A>T c.478A>T (p.Met160Leu) c.280A>T (p.Met94Leu) c.742A>T (p.Met248Leu) c.*136A>T (n.*136A>T) c.1267A>T (p.Met423Leu) c.1258A>T (p.Met420Leu) c.532A>T (p.Met178Leu) c.604A>T (p.Met202Leu) c.472A>T (p.Met158Leu) n.1492A>T | dbSNP ExAC gnomAD v2 |
6 | g.152061017T>A | CA366213769 | ESR1 | c.1262T>A (p.Met421Lys) c.43-33462T>A (n.43-33462T>A) n.590T>A c.479T>A (p.Met160Lys) c.281T>A (p.Met94Lys) c.743T>A (p.Met248Lys) c.*137T>A (n.*137T>A) c.1268T>A (p.Met423Lys) c.1259T>A (p.Met420Lys) c.533T>A (p.Met178Lys) c.605T>A (p.Met202Lys) c.473T>A (p.Met158Lys) n.1493T>A | |
6 | g.152061017T>C | CA366213770 | ESR1 | c.1262T>C (p.Met421Thr) c.43-33462T>C (n.43-33462T>C) n.590T>C c.479T>C (p.Met160Thr) c.281T>C (p.Met94Thr) c.743T>C (p.Met248Thr) c.*137T>C (n.*137T>C) c.1268T>C (p.Met423Thr) c.1259T>C (p.Met420Thr) c.533T>C (p.Met178Thr) c.605T>C (p.Met202Thr) c.473T>C (p.Met158Thr) n.1493T>C | |
6 | g.152061017T>G | CA366213771 | ESR1 | c.1262T>G (p.Met421Arg) c.43-33462T>G (n.43-33462T>G) n.590T>G c.479T>G (p.Met160Arg) c.281T>G (p.Met94Arg) c.743T>G (p.Met248Arg) c.*137T>G (n.*137T>G) c.1268T>G (p.Met423Arg) c.1259T>G (p.Met420Arg) c.533T>G (p.Met178Arg) c.605T>G (p.Met202Arg) c.473T>G (p.Met158Arg) n.1493T>G | |
6 | g.152061020_152061022del | CA645542619 | ESR1 | c.1265_1267del (p.Val422del) c.43-33459_43-33457del (n.43-33459_43-33457del) n.593_595del c.482_484del (p.Val161del) c.284_286del (p.Val95del) c.746_748del (p.Val249del) c.*140_*142del (n.*140_*142del) c.1271_1273del (p.Val424del) c.1262_1264del (p.Val421del) c.536_538del (p.Val179del) c.608_610del (p.Val203del) c.476_478del (p.Val159del) n.1496_1498del | COSMIC |
6 | g.152061018G>A | CA366213772 | ESR1 | c.1263G>A (p.Met421Ile) c.43-33461G>A (n.43-33461G>A) n.591G>A c.480G>A (p.Met160Ile) c.282G>A (p.Met94Ile) c.744G>A (p.Met248Ile) c.*138G>A (n.*138G>A) c.1269G>A (p.Met423Ile) c.1260G>A (p.Met420Ile) c.534G>A (p.Met178Ile) c.606G>A (p.Met202Ile) c.474G>A (p.Met158Ile) n.1494G>A | dbSNP |
6 | g.152061018G>C | CA366213773 | ESR1 | c.1263G>C (p.Met421Ile) c.43-33461G>C (n.43-33461G>C) n.591G>C c.480G>C (p.Met160Ile) c.282G>C (p.Met94Ile) c.744G>C (p.Met248Ile) c.*138G>C (n.*138G>C) c.1269G>C (p.Met423Ile) c.1260G>C (p.Met420Ile) c.534G>C (p.Met178Ile) c.606G>C (p.Met202Ile) c.474G>C (p.Met158Ile) n.1494G>C | dbSNP |
6 | g.152061018G>T | CA366213774 | ESR1 | c.1263G>T (p.Met421Ile) c.43-33461G>T (n.43-33461G>T) n.591G>T c.480G>T (p.Met160Ile) c.282G>T (p.Met94Ile) c.744G>T (p.Met248Ile) c.*138G>T (n.*138G>T) c.1269G>T (p.Met423Ile) c.1260G>T (p.Met420Ile) c.534G>T (p.Met178Ile) c.606G>T (p.Met202Ile) c.474G>T (p.Met158Ile) n.1494G>T | |
6 | g.152061019G>A | CA366213775 | ESR1 | c.1264G>A (p.Val422Met) c.43-33460G>A (n.43-33460G>A) n.592G>A c.481G>A (p.Val161Met) c.283G>A (p.Val95Met) c.745G>A (p.Val249Met) c.*139G>A (n.*139G>A) c.1270G>A (p.Val424Met) c.1261G>A (p.Val421Met) c.535G>A (p.Val179Met) c.607G>A (p.Val203Met) c.475G>A (p.Val159Met) n.1495G>A | dbSNP gnomAD v4 |
6 | g.152061019G>C | CA366213777 | ESR1 | c.1264G>C (p.Val422Leu) c.43-33460G>C (n.43-33460G>C) n.592G>C c.481G>C (p.Val161Leu) c.283G>C (p.Val95Leu) c.745G>C (p.Val249Leu) c.*139G>C (n.*139G>C) c.1270G>C (p.Val424Leu) c.1261G>C (p.Val421Leu) c.535G>C (p.Val179Leu) c.607G>C (p.Val203Leu) c.475G>C (p.Val159Leu) n.1495G>C | dbSNP |
6 | g.152061019G>T | CA366213776 | ESR1 | c.1264G>T (p.Val422Leu) c.43-33460G>T (n.43-33460G>T) n.592G>T c.481G>T (p.Val161Leu) c.283G>T (p.Val95Leu) c.745G>T (p.Val249Leu) c.*139G>T (n.*139G>T) c.1270G>T (p.Val424Leu) c.1261G>T (p.Val421Leu) c.535G>T (p.Val179Leu) c.607G>T (p.Val203Leu) c.475G>T (p.Val159Leu) n.1495G>T | |
6 | g.152061020T>A | CA366213778 | ESR1 | c.1265T>A (p.Val422Glu) c.43-33459T>A (n.43-33459T>A) n.593T>A c.482T>A (p.Val161Glu) c.284T>A (p.Val95Glu) c.746T>A (p.Val249Glu) c.*140T>A (n.*140T>A) c.1271T>A (p.Val424Glu) c.1262T>A (p.Val421Glu) c.536T>A (p.Val179Glu) c.608T>A (p.Val203Glu) c.476T>A (p.Val159Glu) n.1496T>A | |
6 | g.152061020T>C | CA366213779 | ESR1 | c.1265T>C (p.Val422Ala) c.43-33459T>C (n.43-33459T>C) n.593T>C c.482T>C (p.Val161Ala) c.284T>C (p.Val95Ala) c.746T>C (p.Val249Ala) c.*140T>C (n.*140T>C) c.1271T>C (p.Val424Ala) c.1262T>C (p.Val421Ala) c.536T>C (p.Val179Ala) c.608T>C (p.Val203Ala) c.476T>C (p.Val159Ala) n.1496T>C | |
6 | g.152061020T>G | CA366213780 | ESR1 | c.1265T>G (p.Val422Gly) c.43-33459T>G (n.43-33459T>G) n.593T>G c.482T>G (p.Val161Gly) c.284T>G (p.Val95Gly) c.746T>G (p.Val249Gly) c.*140T>G (n.*140T>G) c.1271T>G (p.Val424Gly) c.1262T>G (p.Val421Gly) c.536T>G (p.Val179Gly) c.608T>G (p.Val203Gly) c.476T>G (p.Val159Gly) n.1496T>G | gnomAD v4 |
6 | g.152061021G>A | CA452893335 | ESR1 | c.1266G>A (p.Val422=) c.43-33458G>A (n.43-33458G>A) n.594G>A c.483G>A (p.Val161=) c.285G>A (p.Val95=) c.747G>A (p.Val249=) c.*141G>A (n.*141G>A) c.1272G>A (p.Val424=) c.1263G>A (p.Val421=) c.537G>A (p.Val179=) c.609G>A (p.Val203=) c.477G>A (p.Val159=) n.1497G>A | dbSNP gnomAD v4 |
6 | g.152061021G>C | CA452893336 | ESR1 | c.1266G>C (p.Val422=) c.43-33458G>C (n.43-33458G>C) n.594G>C c.483G>C (p.Val161=) c.285G>C (p.Val95=) c.747G>C (p.Val249=) c.*141G>C (n.*141G>C) c.1272G>C (p.Val424=) c.1263G>C (p.Val421=) c.537G>C (p.Val179=) c.609G>C (p.Val203=) c.477G>C (p.Val159=) n.1497G>C | dbSNP |
6 | g.152061021G>T | CA452893337 | ESR1 | c.1266G>T (p.Val422=) c.43-33458G>T (n.43-33458G>T) n.594G>T c.483G>T (p.Val161=) c.285G>T (p.Val95=) c.747G>T (p.Val249=) c.*141G>T (n.*141G>T) c.1272G>T (p.Val424=) c.1263G>T (p.Val421=) c.537G>T (p.Val179=) c.609G>T (p.Val203=) c.477G>T (p.Val159=) n.1497G>T | |
6 | g.152061022G>A | CA366213781 | ESR1 | c.1267G>A (p.Glu423Lys) c.43-33457G>A (n.43-33457G>A) n.595G>A c.484G>A (p.Glu162Lys) c.286G>A (p.Glu96Lys) c.748G>A (p.Glu250Lys) c.*142G>A (n.*142G>A) c.1273G>A (p.Glu425Lys) c.1264G>A (p.Glu422Lys) c.538G>A (p.Glu180Lys) c.610G>A (p.Glu204Lys) c.478G>A (p.Glu160Lys) n.1498G>A | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.152061022G>C | CA366213782 | ESR1 | c.1267G>C (p.Glu423Gln) c.43-33457G>C (n.43-33457G>C) n.595G>C c.484G>C (p.Glu162Gln) c.286G>C (p.Glu96Gln) c.748G>C (p.Glu250Gln) c.*142G>C (n.*142G>C) c.1273G>C (p.Glu425Gln) c.1264G>C (p.Glu422Gln) c.538G>C (p.Glu180Gln) c.610G>C (p.Glu204Gln) c.478G>C (p.Glu160Gln) n.1498G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152061022G= | CA1673172572 | ESR1 | c.1267G= (p.Glu423=) c.43-33457G= (n.43-33457G=) n.595G= c.484G= (p.Glu162=) c.286G= (p.Glu96=) c.748G= (p.Glu250=) c.*142G= (n.*142G=) c.1273G= (p.Glu425=) c.1264G= (p.Glu422=) c.538G= (p.Glu180=) c.610G= (p.Glu204=) c.478G= (p.Glu160=) n.1498G= | |
6 | g.152061022G>T | CA366213783 | ESR1 | c.1267G>T (p.Glu423Ter) c.43-33457G>T (n.43-33457G>T) n.595G>T c.484G>T (p.Glu162Ter) c.286G>T (p.Glu96Ter) c.748G>T (p.Glu250Ter) c.*142G>T (n.*142G>T) c.1273G>T (p.Glu425Ter) c.1264G>T (p.Glu422Ter) c.538G>T (p.Glu180Ter) c.610G>T (p.Glu204Ter) c.478G>T (p.Glu160Ter) n.1498G>T | |
6 | g.152061023A>C | CA366213784 | ESR1 | c.1268A>C (p.Glu423Ala) c.43-33456A>C (n.43-33456A>C) n.596A>C c.485A>C (p.Glu162Ala) c.287A>C (p.Glu96Ala) c.749A>C (p.Glu250Ala) c.*143A>C (n.*143A>C) c.1274A>C (p.Glu425Ala) c.1265A>C (p.Glu422Ala) c.539A>C (p.Glu180Ala) c.611A>C (p.Glu204Ala) c.479A>C (p.Glu160Ala) n.1499A>C | |
6 | g.152061023A>G | CA366213785 | ESR1 | c.1268A>G (p.Glu423Gly) c.43-33456A>G (n.43-33456A>G) n.596A>G c.485A>G (p.Glu162Gly) c.287A>G (p.Glu96Gly) c.749A>G (p.Glu250Gly) c.*143A>G (n.*143A>G) c.1274A>G (p.Glu425Gly) c.1265A>G (p.Glu422Gly) c.539A>G (p.Glu180Gly) c.611A>G (p.Glu204Gly) c.479A>G (p.Glu160Gly) n.1499A>G | dbSNP |
6 | g.152061023A>T | CA366213786 | ESR1 | c.1268A>T (p.Glu423Val) c.43-33456A>T (n.43-33456A>T) n.596A>T c.485A>T (p.Glu162Val) c.287A>T (p.Glu96Val) c.749A>T (p.Glu250Val) c.*143A>T (n.*143A>T) c.1274A>T (p.Glu425Val) c.1265A>T (p.Glu422Val) c.539A>T (p.Glu180Val) c.611A>T (p.Glu204Val) c.479A>T (p.Glu160Val) n.1499A>T | dbSNP |
6 | g.152061024G>A | CA452893338 | ESR1 | c.1269G>A (p.Glu423=) c.43-33455G>A (n.43-33455G>A) n.597G>A c.486G>A (p.Glu162=) c.288G>A (p.Glu96=) c.750G>A (p.Glu250=) c.*144G>A (n.*144G>A) c.1275G>A (p.Glu425=) c.1266G>A (p.Glu422=) c.540G>A (p.Glu180=) c.612G>A (p.Glu204=) c.480G>A (p.Glu160=) n.1500G>A | dbSNP |
6 | g.152061024G>C | CA366213787 | ESR1 | c.1269G>C (p.Glu423Asp) c.43-33455G>C (n.43-33455G>C) n.597G>C c.486G>C (p.Glu162Asp) c.288G>C (p.Glu96Asp) c.750G>C (p.Glu250Asp) c.*144G>C (n.*144G>C) c.1275G>C (p.Glu425Asp) c.1266G>C (p.Glu422Asp) c.540G>C (p.Glu180Asp) c.612G>C (p.Glu204Asp) c.480G>C (p.Glu160Asp) n.1500G>C | dbSNP |
6 | g.152061024G>T | CA366213788 | ESR1 | c.1269G>T (p.Glu423Asp) c.43-33455G>T (n.43-33455G>T) n.597G>T c.486G>T (p.Glu162Asp) c.288G>T (p.Glu96Asp) c.750G>T (p.Glu250Asp) c.*144G>T (n.*144G>T) c.1275G>T (p.Glu425Asp) c.1266G>T (p.Glu422Asp) c.540G>T (p.Glu180Asp) c.612G>T (p.Glu204Asp) c.480G>T (p.Glu160Asp) n.1500G>T | COSMIC COSMIC |
6 | g.152061025A>C | CA366213791 | ESR1 | c.1270A>C (p.Ile424Leu) c.43-33454A>C (n.43-33454A>C) n.598A>C c.487A>C (p.Ile163Leu) c.289A>C (p.Ile97Leu) c.751A>C (p.Ile251Leu) c.*145A>C (n.*145A>C) c.1276A>C (p.Ile426Leu) c.1267A>C (p.Ile423Leu) c.541A>C (p.Ile181Leu) c.613A>C (p.Ile205Leu) c.481A>C (p.Ile161Leu) n.1501A>C | dbSNP |
6 | g.152061025A>G | CA366213790 | ESR1 | c.1270A>G (p.Ile424Val) c.43-33454A>G (n.43-33454A>G) n.598A>G c.487A>G (p.Ile163Val) c.289A>G (p.Ile97Val) c.751A>G (p.Ile251Val) c.*145A>G (n.*145A>G) c.1276A>G (p.Ile426Val) c.1267A>G (p.Ile423Val) c.541A>G (p.Ile181Val) c.613A>G (p.Ile205Val) c.481A>G (p.Ile161Val) n.1501A>G | |
6 | g.152061025A>T | CA366213789 | ESR1 | c.1270A>T (p.Ile424Phe) c.43-33454A>T (n.43-33454A>T) n.598A>T c.487A>T (p.Ile163Phe) c.289A>T (p.Ile97Phe) c.751A>T (p.Ile251Phe) c.*145A>T (n.*145A>T) c.1276A>T (p.Ile426Phe) c.1267A>T (p.Ile423Phe) c.541A>T (p.Ile181Phe) c.613A>T (p.Ile205Phe) c.481A>T (p.Ile161Phe) n.1501A>T | dbSNP |
6 | g.152061026T>A | CA366213792 | ESR1 | c.1271T>A (p.Ile424Asn) c.43-33453T>A (n.43-33453T>A) n.599T>A c.488T>A (p.Ile163Asn) c.290T>A (p.Ile97Asn) c.752T>A (p.Ile251Asn) c.*146T>A (n.*146T>A) c.1277T>A (p.Ile426Asn) c.1268T>A (p.Ile423Asn) c.542T>A (p.Ile181Asn) c.614T>A (p.Ile205Asn) c.482T>A (p.Ile161Asn) n.1502T>A | |
6 | g.152061026T>C | CA366213793 | ESR1 | c.1271T>C (p.Ile424Thr) c.43-33453T>C (n.43-33453T>C) n.599T>C c.488T>C (p.Ile163Thr) c.290T>C (p.Ile97Thr) c.752T>C (p.Ile251Thr) c.*146T>C (n.*146T>C) c.1277T>C (p.Ile426Thr) c.1268T>C (p.Ile423Thr) c.542T>C (p.Ile181Thr) c.614T>C (p.Ile205Thr) c.482T>C (p.Ile161Thr) n.1502T>C | |
6 | g.152061026T>G | CA366213794 | ESR1 | c.1271T>G (p.Ile424Ser) c.43-33453T>G (n.43-33453T>G) n.599T>G c.488T>G (p.Ile163Ser) c.290T>G (p.Ile97Ser) c.752T>G (p.Ile251Ser) c.*146T>G (n.*146T>G) c.1277T>G (p.Ile426Ser) c.1268T>G (p.Ile423Ser) c.542T>G (p.Ile181Ser) c.614T>G (p.Ile205Ser) c.482T>G (p.Ile161Ser) n.1502T>G | |
6 | g.152061027C>A | CA452893339 | ESR1 | c.1272C>A (p.Ile424=) c.43-33452C>A (n.43-33452C>A) n.600C>A c.489C>A (p.Ile163=) c.291C>A (p.Ile97=) c.753C>A (p.Ile251=) c.*147C>A (n.*147C>A) c.1278C>A (p.Ile426=) c.1269C>A (p.Ile423=) c.543C>A (p.Ile181=) c.615C>A (p.Ile205=) c.483C>A (p.Ile161=) n.1503C>A | |
6 | g.152061027C>G | CA366213795 | ESR1 | c.1272C>G (p.Ile424Met) c.43-33452C>G (n.43-33452C>G) n.600C>G c.489C>G (p.Ile163Met) c.291C>G (p.Ile97Met) c.753C>G (p.Ile251Met) c.*147C>G (n.*147C>G) c.1278C>G (p.Ile426Met) c.1269C>G (p.Ile423Met) c.543C>G (p.Ile181Met) c.615C>G (p.Ile205Met) c.483C>G (p.Ile161Met) n.1503C>G | dbSNP |
6 | g.152061027C>T | CA452893340 | ESR1 | c.1272C>T (p.Ile424=) c.43-33452C>T (n.43-33452C>T) n.600C>T c.489C>T (p.Ile163=) c.291C>T (p.Ile97=) c.753C>T (p.Ile251=) c.*147C>T (n.*147C>T) c.1278C>T (p.Ile426=) c.1269C>T (p.Ile423=) c.543C>T (p.Ile181=) c.615C>T (p.Ile205=) c.483C>T (p.Ile161=) n.1503C>T | dbSNP |
6 | g.152061028T>A | CA366213796 | ESR1 | c.1273T>A (p.Phe425Ile) c.43-33451T>A (n.43-33451T>A) n.601T>A c.490T>A (p.Phe164Ile) c.292T>A (p.Phe98Ile) c.754T>A (p.Phe252Ile) c.*148T>A (n.*148T>A) c.1279T>A (p.Phe427Ile) c.1270T>A (p.Phe424Ile) c.544T>A (p.Phe182Ile) c.616T>A (p.Phe206Ile) c.484T>A (p.Phe162Ile) n.1504T>A | |
6 | g.152061028T>C | CA366213797 | ESR1 | c.1273T>C (p.Phe425Leu) c.43-33451T>C (n.43-33451T>C) n.601T>C c.490T>C (p.Phe164Leu) c.292T>C (p.Phe98Leu) c.754T>C (p.Phe252Leu) c.*148T>C (n.*148T>C) c.1279T>C (p.Phe427Leu) c.1270T>C (p.Phe424Leu) c.544T>C (p.Phe182Leu) c.616T>C (p.Phe206Leu) c.484T>C (p.Phe162Leu) n.1504T>C | |
6 | g.152061028T>G | CA366213798 | ESR1 | c.1273T>G (p.Phe425Val) c.43-33451T>G (n.43-33451T>G) n.601T>G c.490T>G (p.Phe164Val) c.292T>G (p.Phe98Val) c.754T>G (p.Phe252Val) c.*148T>G (n.*148T>G) c.1279T>G (p.Phe427Val) c.1270T>G (p.Phe424Val) c.544T>G (p.Phe182Val) c.616T>G (p.Phe206Val) c.484T>G (p.Phe162Val) n.1504T>G | |
6 | g.152061029T>A | CA366213799 | ESR1 | c.1274T>A (p.Phe425Tyr) c.43-33450T>A (n.43-33450T>A) n.602T>A c.491T>A (p.Phe164Tyr) c.293T>A (p.Phe98Tyr) c.755T>A (p.Phe252Tyr) c.*149T>A (n.*149T>A) c.1280T>A (p.Phe427Tyr) c.1271T>A (p.Phe424Tyr) c.545T>A (p.Phe182Tyr) c.617T>A (p.Phe206Tyr) c.485T>A (p.Phe162Tyr) n.1505T>A | dbSNP |
6 | g.152061029T>C | CA366213800 | ESR1 | c.1274T>C (p.Phe425Ser) c.43-33450T>C (n.43-33450T>C) n.602T>C c.491T>C (p.Phe164Ser) c.293T>C (p.Phe98Ser) c.755T>C (p.Phe252Ser) c.*149T>C (n.*149T>C) c.1280T>C (p.Phe427Ser) c.1271T>C (p.Phe424Ser) c.545T>C (p.Phe182Ser) c.617T>C (p.Phe206Ser) c.485T>C (p.Phe162Ser) n.1505T>C | |
6 | g.152061029T>G | CA366213801 | ESR1 | c.1274T>G (p.Phe425Cys) c.43-33450T>G (n.43-33450T>G) n.602T>G c.491T>G (p.Phe164Cys) c.293T>G (p.Phe98Cys) c.755T>G (p.Phe252Cys) c.*149T>G (n.*149T>G) c.1280T>G (p.Phe427Cys) c.1271T>G (p.Phe424Cys) c.545T>G (p.Phe182Cys) c.617T>G (p.Phe206Cys) c.485T>G (p.Phe162Cys) n.1505T>G | |
6 | g.152061030C>A | CA366213802 | ESR1 | c.1275C>A (p.Phe425Leu) c.43-33449C>A (n.43-33449C>A) n.603C>A c.492C>A (p.Phe164Leu) c.294C>A (p.Phe98Leu) c.756C>A (p.Phe252Leu) c.*150C>A (n.*150C>A) c.1281C>A (p.Phe427Leu) c.1272C>A (p.Phe424Leu) c.546C>A (p.Phe182Leu) c.618C>A (p.Phe206Leu) c.486C>A (p.Phe162Leu) n.1506C>A | dbSNP |
6 | g.152061030C= | CA1673172573 | ESR1 | c.1275C= (p.Phe425=) c.43-33449C= (n.43-33449C=) n.603C= c.492C= (p.Phe164=) c.294C= (p.Phe98=) c.756C= (p.Phe252=) c.*150C= (n.*150C=) c.1281C= (p.Phe427=) c.1272C= (p.Phe424=) c.546C= (p.Phe182=) c.618C= (p.Phe206=) c.486C= (p.Phe162=) n.1506C= | |
6 | g.152061030C>G | CA366213803 | ESR1 | c.1275C>G (p.Phe425Leu) c.43-33449C>G (n.43-33449C>G) n.603C>G c.492C>G (p.Phe164Leu) c.294C>G (p.Phe98Leu) c.756C>G (p.Phe252Leu) c.*150C>G (n.*150C>G) c.1281C>G (p.Phe427Leu) c.1272C>G (p.Phe424Leu) c.546C>G (p.Phe182Leu) c.618C>G (p.Phe206Leu) c.486C>G (p.Phe162Leu) n.1506C>G | dbSNP |
6 | g.152061030C>T | CA452893341 | ESR1 | c.1275C>T (p.Phe425=) c.43-33449C>T (n.43-33449C>T) n.603C>T c.492C>T (p.Phe164=) c.294C>T (p.Phe98=) c.756C>T (p.Phe252=) c.*150C>T (n.*150C>T) c.1281C>T (p.Phe427=) c.1272C>T (p.Phe424=) c.546C>T (p.Phe182=) c.618C>T (p.Phe206=) c.486C>T (p.Phe162=) n.1506C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152061031G>A | CA4052404 | ESR1 | c.1276G>A (p.Asp426Asn) c.43-33448G>A (n.43-33448G>A) n.604G>A c.493G>A (p.Asp165Asn) c.295G>A (p.Asp99Asn) c.757G>A (p.Asp253Asn) c.*151G>A (n.*151G>A) c.1282G>A (p.Asp428Asn) c.1273G>A (p.Asp425Asn) c.547G>A (p.Asp183Asn) c.619G>A (p.Asp207Asn) c.487G>A (p.Asp163Asn) n.1507G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152061031G>C | CA366213805 | ESR1 | c.1276G>C (p.Asp426His) c.43-33448G>C (n.43-33448G>C) n.604G>C c.493G>C (p.Asp165His) c.295G>C (p.Asp99His) c.757G>C (p.Asp253His) c.*151G>C (n.*151G>C) c.1282G>C (p.Asp428His) c.1273G>C (p.Asp425His) c.547G>C (p.Asp183His) c.619G>C (p.Asp207His) c.487G>C (p.Asp163His) n.1507G>C | dbSNP |
6 | g.152061031G= | CA1673172576 | ESR1 | c.1276G= (p.Asp426=) c.43-33448G= (n.43-33448G=) n.604G= c.493G= (p.Asp165=) c.295G= (p.Asp99=) c.757G= (p.Asp253=) c.*151G= (n.*151G=) c.1282G= (p.Asp428=) c.1273G= (p.Asp425=) c.547G= (p.Asp183=) c.619G= (p.Asp207=) c.487G= (p.Asp163=) n.1507G= | |
6 | g.152061031G>T | CA366213804 | ESR1 | c.1276G>T (p.Asp426Tyr) c.43-33448G>T (n.43-33448G>T) n.604G>T c.493G>T (p.Asp165Tyr) c.295G>T (p.Asp99Tyr) c.757G>T (p.Asp253Tyr) c.*151G>T (n.*151G>T) c.1282G>T (p.Asp428Tyr) c.1273G>T (p.Asp425Tyr) c.547G>T (p.Asp183Tyr) c.619G>T (p.Asp207Tyr) c.487G>T (p.Asp163Tyr) n.1507G>T | |
6 | g.152061032A>C | CA366213806 | ESR1 | c.1277A>C (p.Asp426Ala) c.43-33447A>C (n.43-33447A>C) n.605A>C c.494A>C (p.Asp165Ala) c.296A>C (p.Asp99Ala) c.758A>C (p.Asp253Ala) c.*152A>C (n.*152A>C) c.1283A>C (p.Asp428Ala) c.1274A>C (p.Asp425Ala) c.548A>C (p.Asp183Ala) c.620A>C (p.Asp207Ala) c.488A>C (p.Asp163Ala) n.1508A>C | dbSNP |
6 | g.152061032A>G | CA366213807 | ESR1 | c.1277A>G (p.Asp426Gly) c.43-33447A>G (n.43-33447A>G) n.605A>G c.494A>G (p.Asp165Gly) c.296A>G (p.Asp99Gly) c.758A>G (p.Asp253Gly) c.*152A>G (n.*152A>G) c.1283A>G (p.Asp428Gly) c.1274A>G (p.Asp425Gly) c.548A>G (p.Asp183Gly) c.620A>G (p.Asp207Gly) c.488A>G (p.Asp163Gly) n.1508A>G | |
6 | g.152061032A>T | CA366213808 | ESR1 | c.1277A>T (p.Asp426Val) c.43-33447A>T (n.43-33447A>T) n.605A>T c.494A>T (p.Asp165Val) c.296A>T (p.Asp99Val) c.758A>T (p.Asp253Val) c.*152A>T (n.*152A>T) c.1283A>T (p.Asp428Val) c.1274A>T (p.Asp425Val) c.548A>T (p.Asp183Val) c.620A>T (p.Asp207Val) c.488A>T (p.Asp163Val) n.1508A>T | dbSNP |
6 | g.152061033C>A | CA366213809 | ESR1 | c.1278C>A (p.Asp426Glu) c.43-33446C>A (n.43-33446C>A) n.606C>A c.495C>A (p.Asp165Glu) c.297C>A (p.Asp99Glu) c.759C>A (p.Asp253Glu) c.*153C>A (n.*153C>A) c.1284C>A (p.Asp428Glu) c.1275C>A (p.Asp425Glu) c.549C>A (p.Asp183Glu) c.621C>A (p.Asp207Glu) c.489C>A (p.Asp163Glu) n.1509C>A | |
6 | g.152061033C>G | CA366213810 | ESR1 | c.1278C>G (p.Asp426Glu) c.43-33446C>G (n.43-33446C>G) n.606C>G c.495C>G (p.Asp165Glu) c.297C>G (p.Asp99Glu) c.759C>G (p.Asp253Glu) c.*153C>G (n.*153C>G) c.1284C>G (p.Asp428Glu) c.1275C>G (p.Asp425Glu) c.549C>G (p.Asp183Glu) c.621C>G (p.Asp207Glu) c.489C>G (p.Asp163Glu) n.1509C>G | dbSNP |
6 | g.152061033C>T | CA452893342 | ESR1 | c.1278C>T (p.Asp426=) c.43-33446C>T (n.43-33446C>T) n.606C>T c.495C>T (p.Asp165=) c.297C>T (p.Asp99=) c.759C>T (p.Asp253=) c.*153C>T (n.*153C>T) c.1284C>T (p.Asp428=) c.1275C>T (p.Asp425=) c.549C>T (p.Asp183=) c.621C>T (p.Asp207=) c.489C>T (p.Asp163=) n.1509C>T | dbSNP gnomAD v4 |
6 | g.152061034A>C | CA366213811 | ESR1 | c.1279A>C (p.Met427Leu) c.43-33445A>C (n.43-33445A>C) n.607A>C c.496A>C (p.Met166Leu) c.298A>C (p.Met100Leu) c.760A>C (p.Met254Leu) c.*154A>C (n.*154A>C) c.1285A>C (p.Met429Leu) c.1276A>C (p.Met426Leu) c.550A>C (p.Met184Leu) c.622A>C (p.Met208Leu) c.490A>C (p.Met164Leu) n.1510A>C | dbSNP |
6 | g.152061034A>G | CA366213812 | ESR1 | c.1279A>G (p.Met427Val) c.43-33445A>G (n.43-33445A>G) n.607A>G c.496A>G (p.Met166Val) c.298A>G (p.Met100Val) c.760A>G (p.Met254Val) c.*154A>G (n.*154A>G) c.1285A>G (p.Met429Val) c.1276A>G (p.Met426Val) c.550A>G (p.Met184Val) c.622A>G (p.Met208Val) c.490A>G (p.Met164Val) n.1510A>G | COSMIC COSMIC |
6 | g.152061034A>T | CA366213813 | ESR1 | c.1279A>T (p.Met427Leu) c.43-33445A>T (n.43-33445A>T) n.607A>T c.496A>T (p.Met166Leu) c.298A>T (p.Met100Leu) c.760A>T (p.Met254Leu) c.*154A>T (n.*154A>T) c.1285A>T (p.Met429Leu) c.1276A>T (p.Met426Leu) c.550A>T (p.Met184Leu) c.622A>T (p.Met208Leu) c.490A>T (p.Met164Leu) n.1510A>T | |
6 | g.152061035T>A | CA366213814 | ESR1 | c.1280T>A (p.Met427Lys) c.43-33444T>A (n.43-33444T>A) n.608T>A c.497T>A (p.Met166Lys) c.299T>A (p.Met100Lys) c.761T>A (p.Met254Lys) c.*155T>A (n.*155T>A) c.1286T>A (p.Met429Lys) c.1277T>A (p.Met426Lys) c.551T>A (p.Met184Lys) c.623T>A (p.Met208Lys) c.491T>A (p.Met164Lys) n.1511T>A | |
6 | g.152061035T>C | CA366213815 | ESR1 | c.1280T>C (p.Met427Thr) c.43-33444T>C (n.43-33444T>C) n.608T>C c.497T>C (p.Met166Thr) c.299T>C (p.Met100Thr) c.761T>C (p.Met254Thr) c.*155T>C (n.*155T>C) c.1286T>C (p.Met429Thr) c.1277T>C (p.Met426Thr) c.551T>C (p.Met184Thr) c.623T>C (p.Met208Thr) c.491T>C (p.Met164Thr) n.1511T>C | |
6 | g.152061035T>G | CA366213816 | ESR1 | c.1280T>G (p.Met427Arg) c.43-33444T>G (n.43-33444T>G) n.608T>G c.497T>G (p.Met166Arg) c.299T>G (p.Met100Arg) c.761T>G (p.Met254Arg) c.*155T>G (n.*155T>G) c.1286T>G (p.Met429Arg) c.1277T>G (p.Met426Arg) c.551T>G (p.Met184Arg) c.623T>G (p.Met208Arg) c.491T>G (p.Met164Arg) n.1511T>G | |
6 | g.152061036G>A | CA366213817 | ESR1 | c.1281G>A (p.Met427Ile) c.43-33443G>A (n.43-33443G>A) n.609G>A c.498G>A (p.Met166Ile) c.300G>A (p.Met100Ile) c.762G>A (p.Met254Ile) c.*156G>A (n.*156G>A) c.1287G>A (p.Met429Ile) c.1278G>A (p.Met426Ile) c.552G>A (p.Met184Ile) c.624G>A (p.Met208Ile) c.492G>A (p.Met164Ile) n.1512G>A | dbSNP |
6 | g.152061036G>C | CA366213818 | ESR1 | c.1281G>C (p.Met427Ile) c.43-33443G>C (n.43-33443G>C) n.609G>C c.498G>C (p.Met166Ile) c.300G>C (p.Met100Ile) c.762G>C (p.Met254Ile) c.*156G>C (n.*156G>C) c.1287G>C (p.Met429Ile) c.1278G>C (p.Met426Ile) c.552G>C (p.Met184Ile) c.624G>C (p.Met208Ile) c.492G>C (p.Met164Ile) n.1512G>C | dbSNP |
6 | g.152061036G>T | CA366213819 | ESR1 | c.1281G>T (p.Met427Ile) c.43-33443G>T (n.43-33443G>T) n.609G>T c.498G>T (p.Met166Ile) c.300G>T (p.Met100Ile) c.762G>T (p.Met254Ile) c.*156G>T (n.*156G>T) c.1287G>T (p.Met429Ile) c.1278G>T (p.Met426Ile) c.552G>T (p.Met184Ile) c.624G>T (p.Met208Ile) c.492G>T (p.Met164Ile) n.1512G>T | |
6 | g.152061037C>A | CA366213821 | ESR1 | c.1282C>A (p.Leu428Met) c.43-33442C>A (n.43-33442C>A) n.610C>A c.499C>A (p.Leu167Met) c.301C>A (p.Leu101Met) c.763C>A (p.Leu255Met) c.*157C>A (n.*157C>A) c.1288C>A (p.Leu430Met) c.1279C>A (p.Leu427Met) c.553C>A (p.Leu185Met) c.625C>A (p.Leu209Met) c.493C>A (p.Leu165Met) n.1513C>A | dbSNP |
6 | g.152061037C>G | CA366213820 | ESR1 | c.1282C>G (p.Leu428Val) c.43-33442C>G (n.43-33442C>G) n.610C>G c.499C>G (p.Leu167Val) c.301C>G (p.Leu101Val) c.763C>G (p.Leu255Val) c.*157C>G (n.*157C>G) c.1288C>G (p.Leu430Val) c.1279C>G (p.Leu427Val) c.553C>G (p.Leu185Val) c.625C>G (p.Leu209Val) c.493C>G (p.Leu165Val) n.1513C>G | dbSNP |
6 | g.152061037C>T | CA452893343 | ESR1 | c.1282C>T (p.Leu428=) c.43-33442C>T (n.43-33442C>T) n.610C>T c.499C>T (p.Leu167=) c.301C>T (p.Leu101=) c.763C>T (p.Leu255=) c.*157C>T (n.*157C>T) c.1288C>T (p.Leu430=) c.1279C>T (p.Leu427=) c.553C>T (p.Leu185=) c.625C>T (p.Leu209=) c.493C>T (p.Leu165=) n.1513C>T | dbSNP |
6 | g.152061038T>A | CA366213822 | ESR1 | c.1283T>A (p.Leu428Gln) c.43-33441T>A (n.43-33441T>A) n.611T>A c.500T>A (p.Leu167Gln) c.302T>A (p.Leu101Gln) c.764T>A (p.Leu255Gln) c.*158T>A (n.*158T>A) c.1289T>A (p.Leu430Gln) c.1280T>A (p.Leu427Gln) c.554T>A (p.Leu185Gln) c.626T>A (p.Leu209Gln) c.494T>A (p.Leu165Gln) n.1514T>A | dbSNP |
6 | g.152061038T>C | CA366213823 | ESR1 | c.1283T>C (p.Leu428Pro) c.43-33441T>C (n.43-33441T>C) n.611T>C c.500T>C (p.Leu167Pro) c.302T>C (p.Leu101Pro) c.764T>C (p.Leu255Pro) c.*158T>C (n.*158T>C) c.1289T>C (p.Leu430Pro) c.1280T>C (p.Leu427Pro) c.554T>C (p.Leu185Pro) c.626T>C (p.Leu209Pro) c.494T>C (p.Leu165Pro) n.1514T>C | |
6 | g.152061038T>G | CA366213824 | ESR1 | c.1283T>G (p.Leu428Arg) c.43-33441T>G (n.43-33441T>G) n.611T>G c.500T>G (p.Leu167Arg) c.302T>G (p.Leu101Arg) c.764T>G (p.Leu255Arg) c.*158T>G (n.*158T>G) c.1289T>G (p.Leu430Arg) c.1280T>G (p.Leu427Arg) c.554T>G (p.Leu185Arg) c.626T>G (p.Leu209Arg) c.494T>G (p.Leu165Arg) n.1514T>G | |
6 | g.152061039G>A | CA452893344 | ESR1 | c.1284G>A (p.Leu428=) c.43-33440G>A (n.43-33440G>A) n.612G>A c.501G>A (p.Leu167=) c.303G>A (p.Leu101=) c.765G>A (p.Leu255=) c.*159G>A (n.*159G>A) c.1290G>A (p.Leu430=) c.1281G>A (p.Leu427=) c.555G>A (p.Leu185=) c.627G>A (p.Leu209=) c.495G>A (p.Leu165=) n.1515G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061039G>C | CA452893346 | ESR1 | c.1284G>C (p.Leu428=) c.43-33440G>C (n.43-33440G>C) n.612G>C c.501G>C (p.Leu167=) c.303G>C (p.Leu101=) c.765G>C (p.Leu255=) c.*159G>C (n.*159G>C) c.1290G>C (p.Leu430=) c.1281G>C (p.Leu427=) c.555G>C (p.Leu185=) c.627G>C (p.Leu209=) c.495G>C (p.Leu165=) n.1515G>C | dbSNP gnomAD v4 |
6 | g.152061039G= | CA1673172578 | ESR1 | c.1284G= (p.Leu428=) c.43-33440G= (n.43-33440G=) n.612G= c.501G= (p.Leu167=) c.303G= (p.Leu101=) c.765G= (p.Leu255=) c.*159G= (n.*159G=) c.1290G= (p.Leu430=) c.1281G= (p.Leu427=) c.555G= (p.Leu185=) c.627G= (p.Leu209=) c.495G= (p.Leu165=) n.1515G= | |
6 | g.152061039G>T | CA452893345 | ESR1 | c.1284G>T (p.Leu428=) c.43-33440G>T (n.43-33440G>T) n.612G>T c.501G>T (p.Leu167=) c.303G>T (p.Leu101=) c.765G>T (p.Leu255=) c.*159G>T (n.*159G>T) c.1290G>T (p.Leu430=) c.1281G>T (p.Leu427=) c.555G>T (p.Leu185=) c.627G>T (p.Leu209=) c.495G>T (p.Leu165=) n.1515G>T | dbSNP COSMIC |
6 | g.152061040C>A | CA366213825 | ESR1 | c.1285C>A (p.Leu429Met) c.43-33439C>A (n.43-33439C>A) n.613C>A c.502C>A (p.Leu168Met) c.304C>A (p.Leu102Met) c.766C>A (p.Leu256Met) c.*160C>A (n.*160C>A) c.1291C>A (p.Leu431Met) c.1282C>A (p.Leu428Met) c.556C>A (p.Leu186Met) c.628C>A (p.Leu210Met) c.496C>A (p.Leu166Met) n.1516C>A | dbSNP |
6 | g.152061040C>G | CA366213826 | ESR1 | c.1285C>G (p.Leu429Val) c.43-33439C>G (n.43-33439C>G) n.613C>G c.502C>G (p.Leu168Val) c.304C>G (p.Leu102Val) c.766C>G (p.Leu256Val) c.*160C>G (n.*160C>G) c.1291C>G (p.Leu431Val) c.1282C>G (p.Leu428Val) c.556C>G (p.Leu186Val) c.628C>G (p.Leu210Val) c.496C>G (p.Leu166Val) n.1516C>G | dbSNP |
6 | g.152061040C>T | CA452893347 | ESR1 | c.1285C>T (p.Leu429=) c.43-33439C>T (n.43-33439C>T) n.613C>T c.502C>T (p.Leu168=) c.304C>T (p.Leu102=) c.766C>T (p.Leu256=) c.*160C>T (n.*160C>T) c.1291C>T (p.Leu431=) c.1282C>T (p.Leu428=) c.556C>T (p.Leu186=) c.628C>T (p.Leu210=) c.496C>T (p.Leu166=) n.1516C>T | dbSNP gnomAD v4 |
6 | g.152061041T>A | CA366213829 | ESR1 | c.1286T>A (p.Leu429Gln) c.43-33438T>A (n.43-33438T>A) n.614T>A c.503T>A (p.Leu168Gln) c.305T>A (p.Leu102Gln) c.767T>A (p.Leu256Gln) c.*161T>A (n.*161T>A) c.1292T>A (p.Leu431Gln) c.1283T>A (p.Leu428Gln) c.557T>A (p.Leu186Gln) c.629T>A (p.Leu210Gln) c.497T>A (p.Leu166Gln) n.1517T>A | |
6 | g.152061041T>C | CA366213828 | ESR1 | c.1286T>C (p.Leu429Pro) c.43-33438T>C (n.43-33438T>C) n.614T>C c.503T>C (p.Leu168Pro) c.305T>C (p.Leu102Pro) c.767T>C (p.Leu256Pro) c.*161T>C (n.*161T>C) c.1292T>C (p.Leu431Pro) c.1283T>C (p.Leu428Pro) c.557T>C (p.Leu186Pro) c.629T>C (p.Leu210Pro) c.497T>C (p.Leu166Pro) n.1517T>C | |
6 | g.152061041T>G | CA366213827 | ESR1 | c.1286T>G (p.Leu429Arg) c.43-33438T>G (n.43-33438T>G) n.614T>G c.503T>G (p.Leu168Arg) c.305T>G (p.Leu102Arg) c.767T>G (p.Leu256Arg) c.*161T>G (n.*161T>G) c.1292T>G (p.Leu431Arg) c.1283T>G (p.Leu428Arg) c.557T>G (p.Leu186Arg) c.629T>G (p.Leu210Arg) c.497T>G (p.Leu166Arg) n.1517T>G | |
6 | g.152061042G>A | CA452893348 | ESR1 | c.1287G>A (p.Leu429=) c.43-33437G>A (n.43-33437G>A) n.615G>A c.504G>A (p.Leu168=) c.306G>A (p.Leu102=) c.768G>A (p.Leu256=) c.*162G>A (n.*162G>A) c.1293G>A (p.Leu431=) c.1284G>A (p.Leu428=) c.558G>A (p.Leu186=) c.630G>A (p.Leu210=) c.498G>A (p.Leu166=) n.1518G>A | |
6 | g.152061042G>C | CA452893349 | ESR1 | c.1287G>C (p.Leu429=) c.43-33437G>C (n.43-33437G>C) n.615G>C c.504G>C (p.Leu168=) c.306G>C (p.Leu102=) c.768G>C (p.Leu256=) c.*162G>C (n.*162G>C) c.1293G>C (p.Leu431=) c.1284G>C (p.Leu428=) c.558G>C (p.Leu186=) c.630G>C (p.Leu210=) c.498G>C (p.Leu166=) n.1518G>C | dbSNP |
6 | g.152061042G>T | CA452893350 | ESR1 | c.1287G>T (p.Leu429=) c.43-33437G>T (n.43-33437G>T) n.615G>T c.504G>T (p.Leu168=) c.306G>T (p.Leu102=) c.768G>T (p.Leu256=) c.*162G>T (n.*162G>T) c.1293G>T (p.Leu431=) c.1284G>T (p.Leu428=) c.558G>T (p.Leu186=) c.630G>T (p.Leu210=) c.498G>T (p.Leu166=) n.1518G>T | |
6 | g.152061043del | CA2713477685 | ESR1 | c.1288del (p.Ala430LeufsTer8) c.43-33436del (n.43-33436del) n.616del c.505del (p.Ala169LeufsTer8) c.307del (p.Ala103LeufsTer?) c.769del (p.Ala257LeufsTer8) c.*163del (n.*163del) c.1294del (p.Ala432LeufsTer8) c.1285del (p.Ala429LeufsTer8) c.559del (p.Ala187LeufsTer8) c.631del (p.Ala211LeufsTer8) c.499del (p.Ala167LeufsTer8) n.1519del | dbSNP |
6 | g.152061043G>A | CA366213830 | ESR1 | c.1288G>A (p.Ala430Thr) c.43-33436G>A (n.43-33436G>A) n.616G>A c.505G>A (p.Ala169Thr) c.307G>A (p.Ala103Thr) c.769G>A (p.Ala257Thr) c.*163G>A (n.*163G>A) c.1294G>A (p.Ala432Thr) c.1285G>A (p.Ala429Thr) c.559G>A (p.Ala187Thr) c.631G>A (p.Ala211Thr) c.499G>A (p.Ala167Thr) n.1519G>A | dbSNP |
6 | g.152061043G>C | CA366213831 | ESR1 | c.1288G>C (p.Ala430Pro) c.43-33436G>C (n.43-33436G>C) n.616G>C c.505G>C (p.Ala169Pro) c.307G>C (p.Ala103Pro) c.769G>C (p.Ala257Pro) c.*163G>C (n.*163G>C) c.1294G>C (p.Ala432Pro) c.1285G>C (p.Ala429Pro) c.559G>C (p.Ala187Pro) c.631G>C (p.Ala211Pro) c.499G>C (p.Ala167Pro) n.1519G>C | dbSNP |
6 | g.152061043G>T | CA366213832 | ESR1 | c.1288G>T (p.Ala430Ser) c.43-33436G>T (n.43-33436G>T) n.616G>T c.505G>T (p.Ala169Ser) c.307G>T (p.Ala103Ser) c.769G>T (p.Ala257Ser) c.*163G>T (n.*163G>T) c.1294G>T (p.Ala432Ser) c.1285G>T (p.Ala429Ser) c.559G>T (p.Ala187Ser) c.631G>T (p.Ala211Ser) c.499G>T (p.Ala167Ser) n.1519G>T | dbSNP |
6 | g.152061044C>A | CA366213833 | ESR1 | c.1289C>A (p.Ala430Asp) c.43-33435C>A (n.43-33435C>A) n.617C>A c.506C>A (p.Ala169Asp) c.308C>A (p.Ala103Asp) c.770C>A (p.Ala257Asp) c.*164C>A (n.*164C>A) c.1295C>A (p.Ala432Asp) c.1286C>A (p.Ala429Asp) c.560C>A (p.Ala187Asp) c.632C>A (p.Ala211Asp) c.500C>A (p.Ala167Asp) n.1520C>A | dbSNP |
6 | g.152061044C>G | CA366213834 | ESR1 | c.1289C>G (p.Ala430Gly) c.43-33435C>G (n.43-33435C>G) n.617C>G c.506C>G (p.Ala169Gly) c.308C>G (p.Ala103Gly) c.770C>G (p.Ala257Gly) c.*164C>G (n.*164C>G) c.1295C>G (p.Ala432Gly) c.1286C>G (p.Ala429Gly) c.560C>G (p.Ala187Gly) c.632C>G (p.Ala211Gly) c.500C>G (p.Ala167Gly) n.1520C>G | dbSNP |
6 | g.152061044C>T | CA366213835 | ESR1 | c.1289C>T (p.Ala430Val) c.43-33435C>T (n.43-33435C>T) n.617C>T c.506C>T (p.Ala169Val) c.308C>T (p.Ala103Val) c.770C>T (p.Ala257Val) c.*164C>T (n.*164C>T) c.1295C>T (p.Ala432Val) c.1286C>T (p.Ala429Val) c.560C>T (p.Ala187Val) c.632C>T (p.Ala211Val) c.500C>T (p.Ala167Val) n.1520C>T | dbSNP |
6 | g.152061045T>A | CA452893351 | ESR1 | c.1290T>A (p.Ala430=) c.43-33434T>A (n.43-33434T>A) n.618T>A c.507T>A (p.Ala169=) c.309T>A (p.Ala103=) c.771T>A (p.Ala257=) c.*165T>A (n.*165T>A) c.1296T>A (p.Ala432=) c.1287T>A (p.Ala429=) c.561T>A (p.Ala187=) c.633T>A (p.Ala211=) c.501T>A (p.Ala167=) n.1521T>A | dbSNP |
6 | g.152061045T>C | CA452893352 | ESR1 | c.1290T>C (p.Ala430=) c.43-33434T>C (n.43-33434T>C) n.618T>C c.507T>C (p.Ala169=) c.309T>C (p.Ala103=) c.771T>C (p.Ala257=) c.*165T>C (n.*165T>C) c.1296T>C (p.Ala432=) c.1287T>C (p.Ala429=) c.561T>C (p.Ala187=) c.633T>C (p.Ala211=) c.501T>C (p.Ala167=) n.1521T>C | dbSNP gnomAD v4 |
6 | g.152061045T>G | CA452893353 | ESR1 | c.1290T>G (p.Ala430=) c.43-33434T>G (n.43-33434T>G) n.618T>G c.507T>G (p.Ala169=) c.309T>G (p.Ala103=) c.771T>G (p.Ala257=) c.*165T>G (n.*165T>G) c.1296T>G (p.Ala432=) c.1287T>G (p.Ala429=) c.561T>G (p.Ala187=) c.633T>G (p.Ala211=) c.501T>G (p.Ala167=) n.1521T>G | |
6 | g.152061046A= | CA1673172580 | ESR1 | c.1291A= (p.Thr431=) c.43-33433A= (n.43-33433A=) n.619A= c.508A= (p.Thr170=) c.310A= (p.Thr104=) c.772A= (p.Thr258=) c.*166A= (n.*166A=) c.1297A= (p.Thr433=) c.1288A= (p.Thr430=) c.562A= (p.Thr188=) c.634A= (p.Thr212=) c.502A= (p.Thr168=) n.1522A= | |
6 | g.152061046A>C | CA366213836 | ESR1 | c.1291A>C (p.Thr431Pro) c.43-33433A>C (n.43-33433A>C) n.619A>C c.508A>C (p.Thr170Pro) c.310A>C (p.Thr104Pro) c.772A>C (p.Thr258Pro) c.*166A>C (n.*166A>C) c.1297A>C (p.Thr433Pro) c.1288A>C (p.Thr430Pro) c.562A>C (p.Thr188Pro) c.634A>C (p.Thr212Pro) c.502A>C (p.Thr168Pro) n.1522A>C | dbSNP |
6 | g.152061046A>G | CA366213838 | ESR1 | c.1291A>G (p.Thr431Ala) c.43-33433A>G (n.43-33433A>G) n.619A>G c.508A>G (p.Thr170Ala) c.310A>G (p.Thr104Ala) c.772A>G (p.Thr258Ala) c.*166A>G (n.*166A>G) c.1297A>G (p.Thr433Ala) c.1288A>G (p.Thr430Ala) c.562A>G (p.Thr188Ala) c.634A>G (p.Thr212Ala) c.502A>G (p.Thr168Ala) n.1522A>G | dbSNP gnomAD v4 |
6 | g.152061046A>T | CA366213837 | ESR1 | c.1291A>T (p.Thr431Ser) c.43-33433A>T (n.43-33433A>T) n.619A>T c.508A>T (p.Thr170Ser) c.310A>T (p.Thr104Ser) c.772A>T (p.Thr258Ser) c.*166A>T (n.*166A>T) c.1297A>T (p.Thr433Ser) c.1288A>T (p.Thr430Ser) c.562A>T (p.Thr188Ser) c.634A>T (p.Thr212Ser) c.502A>T (p.Thr168Ser) n.1522A>T | dbSNP |
6 | g.152061047C>A | CA366213839 | ESR1 | c.1292C>A (p.Thr431Lys) c.43-33432C>A (n.43-33432C>A) n.620C>A c.509C>A (p.Thr170Lys) c.311C>A (p.Thr104Lys) c.773C>A (p.Thr258Lys) c.*167C>A (n.*167C>A) c.1298C>A (p.Thr433Lys) c.1289C>A (p.Thr430Lys) c.563C>A (p.Thr188Lys) c.635C>A (p.Thr212Lys) c.503C>A (p.Thr168Lys) n.1523C>A | |
6 | g.152061047C= | CA1673172582 | ESR1 | c.1292C= (p.Thr431=) c.43-33432C= (n.43-33432C=) n.620C= c.509C= (p.Thr170=) c.311C= (p.Thr104=) c.773C= (p.Thr258=) c.*167C= (n.*167C=) c.1298C= (p.Thr433=) c.1289C= (p.Thr430=) c.563C= (p.Thr188=) c.635C= (p.Thr212=) c.503C= (p.Thr168=) n.1523C= | |
6 | g.152061047C>G | CA366213840 | ESR1 | c.1292C>G (p.Thr431Arg) c.43-33432C>G (n.43-33432C>G) n.620C>G c.509C>G (p.Thr170Arg) c.311C>G (p.Thr104Arg) c.773C>G (p.Thr258Arg) c.*167C>G (n.*167C>G) c.1298C>G (p.Thr433Arg) c.1289C>G (p.Thr430Arg) c.563C>G (p.Thr188Arg) c.635C>G (p.Thr212Arg) c.503C>G (p.Thr168Arg) n.1523C>G | dbSNP |
6 | g.152061047C>T | CA150439564 | ESR1 | c.1292C>T (p.Thr431Ile) c.43-33432C>T (n.43-33432C>T) n.620C>T c.509C>T (p.Thr170Ile) c.311C>T (p.Thr104Ile) c.773C>T (p.Thr258Ile) c.*167C>T (n.*167C>T) c.1298C>T (p.Thr433Ile) c.1289C>T (p.Thr430Ile) c.563C>T (p.Thr188Ile) c.635C>T (p.Thr212Ile) c.503C>T (p.Thr168Ile) n.1523C>T | dbSNP gnomAD v2 COSMIC COSMIC |
6 | g.152061048A= | CA1673172585 | ESR1 | c.1293A= (p.Thr431=) c.43-33431A= (n.43-33431A=) n.621A= c.510A= (p.Thr170=) c.312A= (p.Thr104=) c.774A= (p.Thr258=) c.*168A= (n.*168A=) c.1299A= (p.Thr433=) c.1290A= (p.Thr430=) c.564A= (p.Thr188=) c.636A= (p.Thr212=) c.504A= (p.Thr168=) n.1524A= | |
6 | g.152061048A>C | CA452893354 | ESR1 | c.1293A>C (p.Thr431=) c.43-33431A>C (n.43-33431A>C) n.621A>C c.510A>C (p.Thr170=) c.312A>C (p.Thr104=) c.774A>C (p.Thr258=) c.*168A>C (n.*168A>C) c.1299A>C (p.Thr433=) c.1290A>C (p.Thr430=) c.564A>C (p.Thr188=) c.636A>C (p.Thr212=) c.504A>C (p.Thr168=) n.1524A>C | |
6 | g.152061048A>G | CA452893355 | ESR1 | c.1293A>G (p.Thr431=) c.43-33431A>G (n.43-33431A>G) n.621A>G c.510A>G (p.Thr170=) c.312A>G (p.Thr104=) c.774A>G (p.Thr258=) c.*168A>G (n.*168A>G) c.1299A>G (p.Thr433=) c.1290A>G (p.Thr430=) c.564A>G (p.Thr188=) c.636A>G (p.Thr212=) c.504A>G (p.Thr168=) n.1524A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061048A>T | CA452893356 | ESR1 | c.1293A>T (p.Thr431=) c.43-33431A>T (n.43-33431A>T) n.621A>T c.510A>T (p.Thr170=) c.312A>T (p.Thr104=) c.774A>T (p.Thr258=) c.*168A>T (n.*168A>T) c.1299A>T (p.Thr433=) c.1290A>T (p.Thr430=) c.564A>T (p.Thr188=) c.636A>T (p.Thr212=) c.504A>T (p.Thr168=) n.1524A>T | dbSNP |
6 | g.152061049T>A | CA366213841 | ESR1 | c.1294T>A (p.Ser432Thr) c.43-33430T>A (n.43-33430T>A) n.622T>A c.511T>A (p.Ser171Thr) c.313T>A (p.Ser105Thr) c.775T>A (p.Ser259Thr) c.*169T>A (n.*169T>A) c.1300T>A (p.Ser434Thr) c.1291T>A (p.Ser431Thr) c.565T>A (p.Ser189Thr) c.637T>A (p.Ser213Thr) c.505T>A (p.Ser169Thr) n.1525T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152061049T>C | CA366213842 | ESR1 | c.1294T>C (p.Ser432Pro) c.43-33430T>C (n.43-33430T>C) n.622T>C c.511T>C (p.Ser171Pro) c.313T>C (p.Ser105Pro) c.775T>C (p.Ser259Pro) c.*169T>C (n.*169T>C) c.1300T>C (p.Ser434Pro) c.1291T>C (p.Ser431Pro) c.565T>C (p.Ser189Pro) c.637T>C (p.Ser213Pro) c.505T>C (p.Ser169Pro) n.1525T>C | |
6 | g.152061049T>G | CA366213843 | ESR1 | c.1294T>G (p.Ser432Ala) c.43-33430T>G (n.43-33430T>G) n.622T>G c.511T>G (p.Ser171Ala) c.313T>G (p.Ser105Ala) c.775T>G (p.Ser259Ala) c.*169T>G (n.*169T>G) c.1300T>G (p.Ser434Ala) c.1291T>G (p.Ser431Ala) c.565T>G (p.Ser189Ala) c.637T>G (p.Ser213Ala) c.505T>G (p.Ser169Ala) n.1525T>G | gnomAD v4 |
6 | g.152061049T= | CA1673172587 | ESR1 | c.1294T= (p.Ser432=) c.43-33430T= (n.43-33430T=) n.622T= c.511T= (p.Ser171=) c.313T= (p.Ser105=) c.775T= (p.Ser259=) c.*169T= (n.*169T=) c.1300T= (p.Ser434=) c.1291T= (p.Ser431=) c.565T= (p.Ser189=) c.637T= (p.Ser213=) c.505T= (p.Ser169=) n.1525T= | |
6 | g.152061050C>A | CA366213844 | ESR1 | c.1295C>A (p.Ser432Ter) c.43-33429C>A (n.43-33429C>A) n.623C>A c.512C>A (p.Ser171Ter) c.314C>A (p.Ser105Ter) c.776C>A (p.Ser259Ter) c.*170C>A (n.*170C>A) c.1301C>A (p.Ser434Ter) c.1292C>A (p.Ser431Ter) c.566C>A (p.Ser189Ter) c.638C>A (p.Ser213Ter) c.506C>A (p.Ser169Ter) n.1526C>A | dbSNP |
6 | g.152061050C>G | CA366213845 | ESR1 | c.1295C>G (p.Ser432Ter) c.43-33429C>G (n.43-33429C>G) n.623C>G c.512C>G (p.Ser171Ter) c.314C>G (p.Ser105Ter) c.776C>G (p.Ser259Ter) c.*170C>G (n.*170C>G) c.1301C>G (p.Ser434Ter) c.1292C>G (p.Ser431Ter) c.566C>G (p.Ser189Ter) c.638C>G (p.Ser213Ter) c.506C>G (p.Ser169Ter) n.1526C>G | dbSNP |
6 | g.152061050C>T | CA366213846 | ESR1 | c.1295C>T (p.Ser432Leu) c.43-33429C>T (n.43-33429C>T) n.623C>T c.512C>T (p.Ser171Leu) c.314C>T (p.Ser105Leu) c.776C>T (p.Ser259Leu) c.*170C>T (n.*170C>T) c.1301C>T (p.Ser434Leu) c.1292C>T (p.Ser431Leu) c.566C>T (p.Ser189Leu) c.638C>T (p.Ser213Leu) c.506C>T (p.Ser169Leu) n.1526C>T | dbSNP |
6 | g.152061051A= | CA1673172589 | ESR1 | c.1296A= (p.Ser432=) c.43-33428A= (n.43-33428A=) n.624A= c.513A= (p.Ser171=) c.315A= (p.Ser105=) c.777A= (p.Ser259=) c.*171A= (n.*171A=) c.1302A= (p.Ser434=) c.1293A= (p.Ser431=) c.567A= (p.Ser189=) c.639A= (p.Ser213=) c.507A= (p.Ser169=) n.1527A= | |
6 | g.152061051A>C | CA452893357 | ESR1 | c.1296A>C (p.Ser432=) c.43-33428A>C (n.43-33428A>C) n.624A>C c.513A>C (p.Ser171=) c.315A>C (p.Ser105=) c.777A>C (p.Ser259=) c.*171A>C (n.*171A>C) c.1302A>C (p.Ser434=) c.1293A>C (p.Ser431=) c.567A>C (p.Ser189=) c.639A>C (p.Ser213=) c.507A>C (p.Ser169=) n.1527A>C | |
6 | g.152061051A>G | CA4052405 | ESR1 | c.1296A>G (p.Ser432=) c.43-33428A>G (n.43-33428A>G) n.624A>G c.513A>G (p.Ser171=) c.315A>G (p.Ser105=) c.777A>G (p.Ser259=) c.*171A>G (n.*171A>G) c.1302A>G (p.Ser434=) c.1293A>G (p.Ser431=) c.567A>G (p.Ser189=) c.639A>G (p.Ser213=) c.507A>G (p.Ser169=) n.1527A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152061051A>T | CA452893358 | ESR1 | c.1296A>T (p.Ser432=) c.43-33428A>T (n.43-33428A>T) n.624A>T c.513A>T (p.Ser171=) c.315A>T (p.Ser105=) c.777A>T (p.Ser259=) c.*171A>T (n.*171A>T) c.1302A>T (p.Ser434=) c.1293A>T (p.Ser431=) c.567A>T (p.Ser189=) c.639A>T (p.Ser213=) c.507A>T (p.Ser169=) n.1527A>T | dbSNP gnomAD v4 |
6 | g.152061052T>A | CA366213847 | ESR1 | c.1297T>A (p.Ser433Thr) c.43-33427T>A (n.43-33427T>A) n.625T>A c.514T>A (p.Ser172Thr) c.316T>A (p.Ser106Thr) c.778T>A (p.Ser260Thr) c.*172T>A (n.*172T>A) c.1303T>A (p.Ser435Thr) c.1294T>A (p.Ser432Thr) c.568T>A (p.Ser190Thr) c.640T>A (p.Ser214Thr) c.508T>A (p.Ser170Thr) n.1528T>A | |
6 | g.152061052T>C | CA366213848 | ESR1 | c.1297T>C (p.Ser433Pro) c.43-33427T>C (n.43-33427T>C) n.625T>C c.514T>C (p.Ser172Pro) c.316T>C (p.Ser106Pro) c.778T>C (p.Ser260Pro) c.*172T>C (n.*172T>C) c.1303T>C (p.Ser435Pro) c.1294T>C (p.Ser432Pro) c.568T>C (p.Ser190Pro) c.640T>C (p.Ser214Pro) c.508T>C (p.Ser170Pro) n.1528T>C | |
6 | g.152061052T>G | CA366213849 | ESR1 | c.1297T>G (p.Ser433Ala) c.43-33427T>G (n.43-33427T>G) n.625T>G c.514T>G (p.Ser172Ala) c.316T>G (p.Ser106Ala) c.778T>G (p.Ser260Ala) c.*172T>G (n.*172T>G) c.1303T>G (p.Ser435Ala) c.1294T>G (p.Ser432Ala) c.568T>G (p.Ser190Ala) c.640T>G (p.Ser214Ala) c.508T>G (p.Ser170Ala) n.1528T>G | |
6 | g.152061053C>A | CA366213850 | ESR1 | c.1298C>A (p.Ser433Tyr) c.43-33426C>A (n.43-33426C>A) n.626C>A c.515C>A (p.Ser172Tyr) c.317C>A (p.Ser106Tyr) c.779C>A (p.Ser260Tyr) c.*173C>A (n.*173C>A) c.1304C>A (p.Ser435Tyr) c.1295C>A (p.Ser432Tyr) c.569C>A (p.Ser190Tyr) c.641C>A (p.Ser214Tyr) c.509C>A (p.Ser170Tyr) n.1529C>A | dbSNP |
6 | g.152061053C= | CA1673172592 | ESR1 | c.1298C= (p.Ser433=) c.43-33426C= (n.43-33426C=) n.626C= c.515C= (p.Ser172=) c.317C= (p.Ser106=) c.779C= (p.Ser260=) c.*173C= (n.*173C=) c.1304C= (p.Ser435=) c.1295C= (p.Ser432=) c.569C= (p.Ser190=) c.641C= (p.Ser214=) c.509C= (p.Ser170=) n.1529C= | |
6 | g.152061053C>G | CA366213852 | ESR1 | c.1298C>G (p.Ser433Cys) c.43-33426C>G (n.43-33426C>G) n.626C>G c.515C>G (p.Ser172Cys) c.317C>G (p.Ser106Cys) c.779C>G (p.Ser260Cys) c.*173C>G (n.*173C>G) c.1304C>G (p.Ser435Cys) c.1295C>G (p.Ser432Cys) c.569C>G (p.Ser190Cys) c.641C>G (p.Ser214Cys) c.509C>G (p.Ser170Cys) n.1529C>G | dbSNP |
6 | g.152061053C>T | CA366213851 | ESR1 | c.1298C>T (p.Ser433Phe) c.43-33426C>T (n.43-33426C>T) n.626C>T c.515C>T (p.Ser172Phe) c.317C>T (p.Ser106Phe) c.779C>T (p.Ser260Phe) c.*173C>T (n.*173C>T) c.1304C>T (p.Ser435Phe) c.1295C>T (p.Ser432Phe) c.569C>T (p.Ser190Phe) c.641C>T (p.Ser214Phe) c.509C>T (p.Ser170Phe) n.1529C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061054T>A | CA452893359 | ESR1 | c.1299T>A (p.Ser433=) c.43-33425T>A (n.43-33425T>A) n.627T>A c.516T>A (p.Ser172=) c.318T>A (p.Ser106=) c.780T>A (p.Ser260=) c.*174T>A (n.*174T>A) c.1305T>A (p.Ser435=) c.1296T>A (p.Ser432=) c.570T>A (p.Ser190=) c.642T>A (p.Ser214=) c.510T>A (p.Ser170=) n.1530T>A | dbSNP |
6 | g.152061054T>C | CA452893360 | ESR1 | c.1299T>C (p.Ser433=) c.43-33425T>C (n.43-33425T>C) n.627T>C c.516T>C (p.Ser172=) c.318T>C (p.Ser106=) c.780T>C (p.Ser260=) c.*174T>C (n.*174T>C) c.1305T>C (p.Ser435=) c.1296T>C (p.Ser432=) c.570T>C (p.Ser190=) c.642T>C (p.Ser214=) c.510T>C (p.Ser170=) n.1530T>C | |
6 | g.152061054T>G | CA452893361 | ESR1 | c.1299T>G (p.Ser433=) c.43-33425T>G (n.43-33425T>G) n.627T>G c.516T>G (p.Ser172=) c.318T>G (p.Ser106=) c.780T>G (p.Ser260=) c.*174T>G (n.*174T>G) c.1305T>G (p.Ser435=) c.1296T>G (p.Ser432=) c.570T>G (p.Ser190=) c.642T>G (p.Ser214=) c.510T>G (p.Ser170=) n.1530T>G | |
6 | g.152061055C>A | CA452893362 | ESR1 | c.1300C>A (p.Arg434=) c.43-33424C>A (n.43-33424C>A) n.628C>A c.517C>A (p.Arg173=) c.319C>A (p.Arg107=) c.781C>A (p.Arg261=) c.*175C>A (n.*175C>A) c.1306C>A (p.Arg436=) c.1297C>A (p.Arg433=) c.571C>A (p.Arg191=) c.643C>A (p.Arg215=) c.511C>A (p.Arg171=) n.1531C>A | dbSNP gnomAD v4 |
6 | g.152061055C= | CA1673172594 | ESR1 | c.1300C= (p.Arg434=) c.43-33424C= (n.43-33424C=) n.628C= c.517C= (p.Arg173=) c.319C= (p.Arg107=) c.781C= (p.Arg261=) c.*175C= (n.*175C=) c.1306C= (p.Arg436=) c.1297C= (p.Arg433=) c.571C= (p.Arg191=) c.643C= (p.Arg215=) c.511C= (p.Arg171=) n.1531C= | |
6 | g.152061055C>G | CA366213853 | ESR1 | c.1300C>G (p.Arg434Gly) c.43-33424C>G (n.43-33424C>G) n.628C>G c.517C>G (p.Arg173Gly) c.319C>G (p.Arg107Gly) c.781C>G (p.Arg261Gly) c.*175C>G (n.*175C>G) c.1306C>G (p.Arg436Gly) c.1297C>G (p.Arg433Gly) c.571C>G (p.Arg191Gly) c.643C>G (p.Arg215Gly) c.511C>G (p.Arg171Gly) n.1531C>G | dbSNP |
6 | g.152061055C>T | CA4052406 | ESR1 | c.1300C>T (p.Arg434Trp) c.43-33424C>T (n.43-33424C>T) n.628C>T c.517C>T (p.Arg173Trp) c.319C>T (p.Arg107Trp) c.781C>T (p.Arg261Trp) c.*175C>T (n.*175C>T) c.1306C>T (p.Arg436Trp) c.1297C>T (p.Arg433Trp) c.571C>T (p.Arg191Trp) c.643C>T (p.Arg215Trp) c.511C>T (p.Arg171Trp) n.1531C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.152061056G>A | CA366213854 | ESR1 | c.1301G>A (p.Arg434Gln) c.43-33423G>A (n.43-33423G>A) n.629G>A c.518G>A (p.Arg173Gln) c.320G>A (p.Arg107Gln) c.782G>A (p.Arg261Gln) c.*176G>A (n.*176G>A) c.1307G>A (p.Arg436Gln) c.1298G>A (p.Arg433Gln) c.572G>A (p.Arg191Gln) c.644G>A (p.Arg215Gln) c.512G>A (p.Arg171Gln) n.1532G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.152061056G>C | CA366213855 | ESR1 | c.1301G>C (p.Arg434Pro) c.43-33423G>C (n.43-33423G>C) n.629G>C c.518G>C (p.Arg173Pro) c.320G>C (p.Arg107Pro) c.782G>C (p.Arg261Pro) c.*176G>C (n.*176G>C) c.1307G>C (p.Arg436Pro) c.1298G>C (p.Arg433Pro) c.572G>C (p.Arg191Pro) c.644G>C (p.Arg215Pro) c.512G>C (p.Arg171Pro) n.1532G>C | dbSNP |
6 | g.152061056G= | CA1673172598 | ESR1 | c.1301G= (p.Arg434=) c.43-33423G= (n.43-33423G=) n.629G= c.518G= (p.Arg173=) c.320G= (p.Arg107=) c.782G= (p.Arg261=) c.*176G= (n.*176G=) c.1307G= (p.Arg436=) c.1298G= (p.Arg433=) c.572G= (p.Arg191=) c.644G= (p.Arg215=) c.512G= (p.Arg171=) n.1532G= | |
6 | g.152061056G>T | CA366213856 | ESR1 | c.1301G>T (p.Arg434Leu) c.43-33423G>T (n.43-33423G>T) n.629G>T c.518G>T (p.Arg173Leu) c.320G>T (p.Arg107Leu) c.782G>T (p.Arg261Leu) c.*176G>T (n.*176G>T) c.1307G>T (p.Arg436Leu) c.1298G>T (p.Arg433Leu) c.572G>T (p.Arg191Leu) c.644G>T (p.Arg215Leu) c.512G>T (p.Arg171Leu) n.1532G>T | dbSNP |
6 | g.152061057G>A | CA452893363 | ESR1 | c.1302G>A (p.Arg434=) c.43-33422G>A (n.43-33422G>A) n.630G>A c.519G>A (p.Arg173=) c.321G>A (p.Arg107=) c.783G>A (p.Arg261=) c.*177G>A (n.*177G>A) c.1308G>A (p.Arg436=) c.1299G>A (p.Arg433=) c.573G>A (p.Arg191=) c.645G>A (p.Arg215=) c.513G>A (p.Arg171=) n.1533G>A | dbSNP |
6 | g.152061057G>C | CA452893364 | ESR1 | c.1302G>C (p.Arg434=) c.43-33422G>C (n.43-33422G>C) n.630G>C c.519G>C (p.Arg173=) c.321G>C (p.Arg107=) c.783G>C (p.Arg261=) c.*177G>C (n.*177G>C) c.1308G>C (p.Arg436=) c.1299G>C (p.Arg433=) c.573G>C (p.Arg191=) c.645G>C (p.Arg215=) c.513G>C (p.Arg171=) n.1533G>C | dbSNP |
6 | g.152061057G>T | CA452893365 | ESR1 | c.1302G>T (p.Arg434=) c.43-33422G>T (n.43-33422G>T) n.630G>T c.519G>T (p.Arg173=) c.321G>T (p.Arg107=) c.783G>T (p.Arg261=) c.*177G>T (n.*177G>T) c.1308G>T (p.Arg436=) c.1299G>T (p.Arg433=) c.573G>T (p.Arg191=) c.645G>T (p.Arg215=) c.513G>T (p.Arg171=) n.1533G>T | |
6 | g.152061058T>A | CA366213857 | ESR1 | c.1303T>A (p.Phe435Ile) c.43-33421T>A (n.43-33421T>A) n.631T>A c.520T>A (p.Phe174Ile) c.322T>A c.784T>A (p.Phe262Ile) c.*178T>A (n.*178T>A) c.1309T>A (p.Phe437Ile) c.1300T>A (p.Phe434Ile) c.574T>A (p.Phe192Ile) c.646T>A (p.Phe216Ile) c.514T>A (p.Phe172Ile) n.1534T>A | dbSNP |
6 | g.152061058T>C | CA366213858 | ESR1 | c.1303T>C (p.Phe435Leu) c.43-33421T>C (n.43-33421T>C) n.631T>C c.520T>C (p.Phe174Leu) c.322T>C c.784T>C (p.Phe262Leu) c.*178T>C (n.*178T>C) c.1309T>C (p.Phe437Leu) c.1300T>C (p.Phe434Leu) c.574T>C (p.Phe192Leu) c.646T>C (p.Phe216Leu) c.514T>C (p.Phe172Leu) n.1534T>C | dbSNP |
6 | g.152061058T>G | CA366213859 | ESR1 | c.1303T>G (p.Phe435Val) c.43-33421T>G (n.43-33421T>G) n.631T>G c.520T>G (p.Phe174Val) c.322T>G c.784T>G (p.Phe262Val) c.*178T>G (n.*178T>G) c.1309T>G (p.Phe437Val) c.1300T>G (p.Phe434Val) c.574T>G (p.Phe192Val) c.646T>G (p.Phe216Val) c.514T>G (p.Phe172Val) n.1534T>G | |
6 | g.152061059T>A | CA366213860 | ESR1 | c.1304T>A (p.Phe435Tyr) c.43-33420T>A (n.43-33420T>A) n.632T>A c.521T>A (p.Phe174Tyr) c.323T>A c.785T>A (p.Phe262Tyr) c.*179T>A (n.*179T>A) c.1310T>A (p.Phe437Tyr) c.1301T>A (p.Phe434Tyr) c.575T>A (p.Phe192Tyr) c.647T>A (p.Phe216Tyr) c.515T>A (p.Phe172Tyr) n.1535T>A | dbSNP |
6 | g.152061059T>C | CA366213861 | ESR1 | c.1304T>C (p.Phe435Ser) c.43-33420T>C (n.43-33420T>C) n.632T>C c.521T>C (p.Phe174Ser) c.323T>C c.785T>C (p.Phe262Ser) c.*179T>C (n.*179T>C) c.1310T>C (p.Phe437Ser) c.1301T>C (p.Phe434Ser) c.575T>C (p.Phe192Ser) c.647T>C (p.Phe216Ser) c.515T>C (p.Phe172Ser) n.1535T>C | |
6 | g.152061059T>G | CA366213862 | ESR1 | c.1304T>G (p.Phe435Cys) c.43-33420T>G (n.43-33420T>G) n.632T>G c.521T>G (p.Phe174Cys) c.323T>G c.785T>G (p.Phe262Cys) c.*179T>G (n.*179T>G) c.1310T>G (p.Phe437Cys) c.1301T>G (p.Phe434Cys) c.575T>G (p.Phe192Cys) c.647T>G (p.Phe216Cys) c.515T>G (p.Phe172Cys) n.1535T>G | |
6 | g.152061060C>A | CA366213863 | ESR1 | c.1305C>A (p.Phe435Leu) c.43-33419C>A (n.43-33419C>A) n.633C>A c.522C>A (p.Phe174Leu) c.786C>A (p.Phe262Leu) c.*180C>A (n.*180C>A) c.1311C>A (p.Phe437Leu) c.1302C>A (p.Phe434Leu) c.576C>A (p.Phe192Leu) c.648C>A (p.Phe216Leu) c.516C>A (p.Phe172Leu) n.1536C>A | dbSNP |
6 | g.152061060C>G | CA366213864 | ESR1 | c.1305C>G (p.Phe435Leu) c.43-33419C>G (n.43-33419C>G) n.633C>G c.522C>G (p.Phe174Leu) c.786C>G (p.Phe262Leu) c.*180C>G (n.*180C>G) c.1311C>G (p.Phe437Leu) c.1302C>G (p.Phe434Leu) c.576C>G (p.Phe192Leu) c.648C>G (p.Phe216Leu) c.516C>G (p.Phe172Leu) n.1536C>G | dbSNP |
6 | g.152061060C>T | CA452893366 | ESR1 | c.1305C>T (p.Phe435=) c.43-33419C>T (n.43-33419C>T) n.633C>T c.522C>T (p.Phe174=) c.786C>T (p.Phe262=) c.*180C>T (n.*180C>T) c.1311C>T (p.Phe437=) c.1302C>T (p.Phe434=) c.576C>T (p.Phe192=) c.648C>T (p.Phe216=) c.516C>T (p.Phe172=) n.1536C>T | dbSNP |
6 | g.152061061C>A | CA366213865 | ESR1 | c.1306C>A (p.Arg436Ser) c.43-33418C>A (n.43-33418C>A) n.634C>A c.523C>A (p.Arg175Ser) c.787C>A (p.Arg263Ser) c.*181C>A (n.*181C>A) c.1312C>A (p.Arg438Ser) c.1303C>A (p.Arg435Ser) c.577C>A (p.Arg193Ser) c.649C>A (p.Arg217Ser) c.517C>A (p.Arg173Ser) n.1537C>A | |
6 | g.152061061C= | CA1673172603 | ESR1 | c.1306C= (p.Arg436=) c.43-33418C= (n.43-33418C=) n.634C= c.523C= (p.Arg175=) c.787C= (p.Arg263=) c.*181C= (n.*181C=) c.1312C= (p.Arg438=) c.1303C= (p.Arg435=) c.577C= (p.Arg193=) c.649C= (p.Arg217=) c.517C= (p.Arg173=) n.1537C= | |
6 | g.152061061C>G | CA366213866 | ESR1 | c.1306C>G (p.Arg436Gly) c.43-33418C>G (n.43-33418C>G) n.634C>G c.523C>G (p.Arg175Gly) c.787C>G (p.Arg263Gly) c.*181C>G (n.*181C>G) c.1312C>G (p.Arg438Gly) c.1303C>G (p.Arg435Gly) c.577C>G (p.Arg193Gly) c.649C>G (p.Arg217Gly) c.517C>G (p.Arg173Gly) n.1537C>G | |
6 | g.152061061C>T | CA4052407 | ESR1 | c.1306C>T (p.Arg436Cys) c.43-33418C>T (n.43-33418C>T) n.634C>T c.523C>T (p.Arg175Cys) c.787C>T (p.Arg263Cys) c.*181C>T (n.*181C>T) c.1312C>T (p.Arg438Cys) c.1303C>T (p.Arg435Cys) c.577C>T (p.Arg193Cys) c.649C>T (p.Arg217Cys) c.517C>T (p.Arg173Cys) n.1537C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152061062G>A | CA4052408 | ESR1 | c.1307G>A (p.Arg436His) c.43-33417G>A (n.43-33417G>A) n.635G>A c.524G>A (p.Arg175His) c.788G>A (p.Arg263His) c.*182G>A (n.*182G>A) c.1313G>A (p.Arg438His) c.1304G>A (p.Arg435His) c.578G>A (p.Arg193His) c.650G>A (p.Arg217His) c.518G>A (p.Arg173His) n.1538G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152061062G>C | CA366213867 | ESR1 | c.1307G>C (p.Arg436Pro) c.43-33417G>C (n.43-33417G>C) n.635G>C c.524G>C (p.Arg175Pro) c.788G>C (p.Arg263Pro) c.*182G>C (n.*182G>C) c.1313G>C (p.Arg438Pro) c.1304G>C (p.Arg435Pro) c.578G>C (p.Arg193Pro) c.650G>C (p.Arg217Pro) c.518G>C (p.Arg173Pro) n.1538G>C | dbSNP |
6 | g.152061062G= | CA1673172607 | ESR1 | c.1307G= (p.Arg436=) c.43-33417G= (n.43-33417G=) n.635G= c.524G= (p.Arg175=) c.788G= (p.Arg263=) c.*182G= (n.*182G=) c.1313G= (p.Arg438=) c.1304G= (p.Arg435=) c.578G= (p.Arg193=) c.650G= (p.Arg217=) c.518G= (p.Arg173=) n.1538G= | |
6 | g.152061062G>T | CA366213868 | ESR1 | c.1307G>T (p.Arg436Leu) c.43-33417G>T (n.43-33417G>T) n.635G>T c.524G>T (p.Arg175Leu) c.788G>T (p.Arg263Leu) c.*182G>T (n.*182G>T) c.1313G>T (p.Arg438Leu) c.1304G>T (p.Arg435Leu) c.578G>T (p.Arg193Leu) c.650G>T (p.Arg217Leu) c.518G>T (p.Arg173Leu) n.1538G>T | gnomAD v4 |
6 | g.152061063C>A | CA452893367 | ESR1 | c.1308C>A (p.Arg436=) c.43-33416C>A (n.43-33416C>A) n.636C>A c.525C>A (p.Arg175=) c.789C>A (p.Arg263=) c.*183C>A (n.*183C>A) c.1314C>A (p.Arg438=) c.1305C>A (p.Arg435=) c.579C>A (p.Arg193=) c.651C>A (p.Arg217=) c.519C>A (p.Arg173=) n.1539C>A | dbSNP |
6 | g.152061063C>G | CA452893368 | ESR1 | c.1308C>G (p.Arg436=) c.43-33416C>G (n.43-33416C>G) n.636C>G c.525C>G (p.Arg175=) c.789C>G (p.Arg263=) c.*183C>G (n.*183C>G) c.1314C>G (p.Arg438=) c.1305C>G (p.Arg435=) c.579C>G (p.Arg193=) c.651C>G (p.Arg217=) c.519C>G (p.Arg173=) n.1539C>G | dbSNP |
6 | g.152061063C>T | CA452893369 | ESR1 | c.1308C>T (p.Arg436=) c.43-33416C>T (n.43-33416C>T) n.636C>T c.525C>T (p.Arg175=) c.789C>T (p.Arg263=) c.*183C>T (n.*183C>T) c.1314C>T (p.Arg438=) c.1305C>T (p.Arg435=) c.579C>T (p.Arg193=) c.651C>T (p.Arg217=) c.519C>T (p.Arg173=) n.1539C>T | dbSNP |
6 | g.152061064A= | CA1673172609 | ESR1 | c.1309A= (p.Met437=) c.43-33415A= (n.43-33415A=) n.637A= c.526A= (p.Met176=) c.790A= (p.Met264=) c.*184A= (n.*184A=) c.1315A= (p.Met439=) c.1306A= (p.Met436=) c.580A= (p.Met194=) c.652A= (p.Met218=) c.520A= (p.Met174=) n.1540A= | |
6 | g.152061064A>C | CA366213869 | ESR1 | c.1309A>C (p.Met437Leu) c.43-33415A>C (n.43-33415A>C) n.637A>C c.526A>C (p.Met176Leu) c.790A>C (p.Met264Leu) c.*184A>C (n.*184A>C) c.1315A>C (p.Met439Leu) c.1306A>C (p.Met436Leu) c.580A>C (p.Met194Leu) c.652A>C (p.Met218Leu) c.520A>C (p.Met174Leu) n.1540A>C | |
6 | g.152061064A>G | CA366213870 | ESR1 | c.1309A>G (p.Met437Val) c.43-33415A>G (n.43-33415A>G) n.637A>G c.526A>G (p.Met176Val) c.790A>G (p.Met264Val) c.*184A>G (n.*184A>G) c.1315A>G (p.Met439Val) c.1306A>G (p.Met436Val) c.580A>G (p.Met194Val) c.652A>G (p.Met218Val) c.520A>G (p.Met174Val) n.1540A>G | gnomAD v4 |
6 | g.152061064A>T | CA366213871 | ESR1 | c.1309A>T (p.Met437Leu) c.43-33415A>T (n.43-33415A>T) n.637A>T c.526A>T (p.Met176Leu) c.790A>T (p.Met264Leu) c.*184A>T (n.*184A>T) c.1315A>T (p.Met439Leu) c.1306A>T (p.Met436Leu) c.580A>T (p.Met194Leu) c.652A>T (p.Met218Leu) c.520A>T (p.Met174Leu) n.1540A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152061065T>A | CA366213874 | ESR1 | c.1310T>A (p.Met437Lys) c.43-33414T>A (n.43-33414T>A) n.638T>A c.527T>A (p.Met176Lys) c.791T>A (p.Met264Lys) c.*185T>A (n.*185T>A) c.1316T>A (p.Met439Lys) c.1307T>A (p.Met436Lys) c.581T>A (p.Met194Lys) c.653T>A (p.Met218Lys) c.521T>A (p.Met174Lys) n.1541T>A | dbSNP |
6 | g.152061065T>C | CA366213873 | ESR1 | c.1310T>C (p.Met437Thr) c.43-33414T>C (n.43-33414T>C) n.638T>C c.527T>C (p.Met176Thr) c.791T>C (p.Met264Thr) c.*185T>C (n.*185T>C) c.1316T>C (p.Met439Thr) c.1307T>C (p.Met436Thr) c.581T>C (p.Met194Thr) c.653T>C (p.Met218Thr) c.521T>C (p.Met174Thr) n.1541T>C | |
6 | g.152061065T>G | CA366213872 | ESR1 | c.1310T>G (p.Met437Arg) c.43-33414T>G (n.43-33414T>G) n.638T>G c.527T>G (p.Met176Arg) c.791T>G (p.Met264Arg) c.*185T>G (n.*185T>G) c.1316T>G (p.Met439Arg) c.1307T>G (p.Met436Arg) c.581T>G (p.Met194Arg) c.653T>G (p.Met218Arg) c.521T>G (p.Met174Arg) n.1541T>G | |
6 | g.152061066G>A | CA4052409 | ESR1 | c.1311G>A (p.Met437Ile) c.43-33413G>A (n.43-33413G>A) n.639G>A c.528G>A (p.Met176Ile) c.792G>A (p.Met264Ile) c.*186G>A (n.*186G>A) c.1317G>A (p.Met439Ile) c.1308G>A (p.Met436Ile) c.582G>A (p.Met194Ile) c.654G>A (p.Met218Ile) c.522G>A (p.Met174Ile) n.1542G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152061066G>C | CA366213875 | ESR1 | c.1311G>C (p.Met437Ile) c.43-33413G>C (n.43-33413G>C) n.639G>C c.528G>C (p.Met176Ile) c.792G>C (p.Met264Ile) c.*186G>C (n.*186G>C) c.1317G>C (p.Met439Ile) c.1308G>C (p.Met436Ile) c.582G>C (p.Met194Ile) c.654G>C (p.Met218Ile) c.522G>C (p.Met174Ile) n.1542G>C | dbSNP |
6 | g.152061066G= | CA1673172611 | ESR1 | c.1311G= (p.Met437=) c.43-33413G= (n.43-33413G=) n.639G= c.528G= (p.Met176=) c.792G= (p.Met264=) c.*186G= (n.*186G=) c.1317G= (p.Met439=) c.1308G= (p.Met436=) c.582G= (p.Met194=) c.654G= (p.Met218=) c.522G= (p.Met174=) n.1542G= | |
6 | g.152061066G>T | CA366213876 | ESR1 | c.1311G>T (p.Met437Ile) c.43-33413G>T (n.43-33413G>T) n.639G>T c.528G>T (p.Met176Ile) c.792G>T (p.Met264Ile) c.*186G>T (n.*186G>T) c.1317G>T (p.Met439Ile) c.1308G>T (p.Met436Ile) c.582G>T (p.Met194Ile) c.654G>T (p.Met218Ile) c.522G>T (p.Met174Ile) n.1542G>T | |
6 | g.152061067A>C | CA366213877 | ESR1 | c.1312A>C (p.Met438Leu) c.43-33412A>C (n.43-33412A>C) n.640A>C c.529A>C (p.Met177Leu) c.793A>C (p.Met265Leu) c.*187A>C (n.*187A>C) c.1318A>C (p.Met440Leu) c.1309A>C (p.Met437Leu) c.583A>C (p.Met195Leu) c.655A>C (p.Met219Leu) c.523A>C (p.Met175Leu) n.1543A>C | |
6 | g.152061067A>G | CA366213878 | ESR1 | c.1312A>G (p.Met438Val) c.43-33412A>G (n.43-33412A>G) n.640A>G c.529A>G (p.Met177Val) c.793A>G (p.Met265Val) c.*187A>G (n.*187A>G) c.1318A>G (p.Met440Val) c.1309A>G (p.Met437Val) c.583A>G (p.Met195Val) c.655A>G (p.Met219Val) c.523A>G (p.Met175Val) n.1543A>G | |
6 | g.152061067A>T | CA366213879 | ESR1 | c.1312A>T (p.Met438Leu) c.43-33412A>T (n.43-33412A>T) n.640A>T c.529A>T (p.Met177Leu) c.793A>T (p.Met265Leu) c.*187A>T (n.*187A>T) c.1318A>T (p.Met440Leu) c.1309A>T (p.Met437Leu) c.583A>T (p.Met195Leu) c.655A>T (p.Met219Leu) c.523A>T (p.Met175Leu) n.1543A>T | dbSNP |
6 | g.152061068T>A | CA366213882 | ESR1 | c.1313T>A (p.Met438Lys) c.43-33411T>A (n.43-33411T>A) n.641T>A c.530T>A (p.Met177Lys) c.794T>A (p.Met265Lys) c.*188T>A (n.*188T>A) c.1319T>A (p.Met440Lys) c.1310T>A (p.Met437Lys) c.584T>A (p.Met195Lys) c.656T>A (p.Met219Lys) c.524T>A (p.Met175Lys) n.1544T>A | dbSNP |
6 | g.152061068T>C | CA366213880 | ESR1 | c.1313T>C (p.Met438Thr) c.43-33411T>C (n.43-33411T>C) n.641T>C c.530T>C (p.Met177Thr) c.794T>C (p.Met265Thr) c.*188T>C (n.*188T>C) c.1319T>C (p.Met440Thr) c.1310T>C (p.Met437Thr) c.584T>C (p.Met195Thr) c.656T>C (p.Met219Thr) c.524T>C (p.Met175Thr) n.1544T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152061068T>G | CA366213881 | ESR1 | c.1313T>G (p.Met438Arg) c.43-33411T>G (n.43-33411T>G) n.641T>G c.530T>G (p.Met177Arg) c.794T>G (p.Met265Arg) c.*188T>G (n.*188T>G) c.1319T>G (p.Met440Arg) c.1310T>G (p.Met437Arg) c.584T>G (p.Met195Arg) c.656T>G (p.Met219Arg) c.524T>G (p.Met175Arg) n.1544T>G | dbSNP |
6 | g.152061068T= | CA1673172614 | ESR1 | c.1313T= (p.Met438=) c.43-33411T= (n.43-33411T=) n.641T= c.530T= (p.Met177=) c.794T= (p.Met265=) c.*188T= (n.*188T=) c.1319T= (p.Met440=) c.1310T= (p.Met437=) c.584T= (p.Met195=) c.656T= (p.Met219=) c.524T= (p.Met175=) n.1544T= | |
6 | g.152061069G>A | CA366213883 | ESR1 | c.1314G>A (p.Met438Ile) c.43-33410G>A (n.43-33410G>A) n.642G>A c.531G>A (p.Met177Ile) c.795G>A (p.Met265Ile) c.*189G>A (n.*189G>A) c.1320G>A (p.Met440Ile) c.1311G>A (p.Met437Ile) c.585G>A (p.Met195Ile) c.657G>A (p.Met219Ile) c.525G>A (p.Met175Ile) n.1545G>A | dbSNP |
6 | g.152061069G>C | CA366213884 | ESR1 | c.1314G>C (p.Met438Ile) c.43-33410G>C (n.43-33410G>C) n.642G>C c.531G>C (p.Met177Ile) c.795G>C (p.Met265Ile) c.*189G>C (n.*189G>C) c.1320G>C (p.Met440Ile) c.1311G>C (p.Met437Ile) c.585G>C (p.Met195Ile) c.657G>C (p.Met219Ile) c.525G>C (p.Met175Ile) n.1545G>C | dbSNP |
6 | g.152061069G>T | CA366213885 | ESR1 | c.1314G>T (p.Met438Ile) c.43-33410G>T (n.43-33410G>T) n.642G>T c.531G>T (p.Met177Ile) c.795G>T (p.Met265Ile) c.*189G>T (n.*189G>T) c.1320G>T (p.Met440Ile) c.1311G>T (p.Met437Ile) c.585G>T (p.Met195Ile) c.657G>T (p.Met219Ile) c.525G>T (p.Met175Ile) n.1545G>T | |
6 | g.152061070A>C | CA366213886 | ESR1 | c.1315A>C (p.Asn439His) c.43-33409A>C (n.43-33409A>C) n.643A>C c.532A>C (p.Asn178His) c.796A>C (p.Asn266His) c.*190A>C (n.*190A>C) c.1321A>C (p.Asn441His) c.1312A>C (p.Asn438His) c.586A>C (p.Asn196His) c.658A>C (p.Asn220His) c.526A>C (p.Asn176His) n.1546A>C | |
6 | g.152061070A>G | CA366213887 | ESR1 | c.1315A>G (p.Asn439Asp) c.43-33409A>G (n.43-33409A>G) n.643A>G c.532A>G (p.Asn178Asp) c.796A>G (p.Asn266Asp) c.*190A>G (n.*190A>G) c.1321A>G (p.Asn441Asp) c.1312A>G (p.Asn438Asp) c.586A>G (p.Asn196Asp) c.658A>G (p.Asn220Asp) c.526A>G (p.Asn176Asp) n.1546A>G | |
6 | g.152061070A>T | CA366213888 | ESR1 | c.1315A>T (p.Asn439Tyr) c.43-33409A>T (n.43-33409A>T) n.643A>T c.532A>T (p.Asn178Tyr) c.796A>T (p.Asn266Tyr) c.*190A>T (n.*190A>T) c.1321A>T (p.Asn441Tyr) c.1312A>T (p.Asn438Tyr) c.586A>T (p.Asn196Tyr) c.658A>T (p.Asn220Tyr) c.526A>T (p.Asn176Tyr) n.1546A>T | dbSNP |
6 | g.152061071A= | CA1673172616 | ESR1 | c.1316A= (p.Asn439=) c.43-33408A= (n.43-33408A=) n.644A= c.533A= (p.Asn178=) c.797A= (p.Asn266=) c.*191A= (n.*191A=) c.1322A= (p.Asn441=) c.1313A= (p.Asn438=) c.587A= (p.Asn196=) c.659A= (p.Asn220=) c.527A= (p.Asn176=) n.1547A= | |
6 | g.152061071A>C | CA366213889 | ESR1 | c.1316A>C (p.Asn439Thr) c.43-33408A>C (n.43-33408A>C) n.644A>C c.533A>C (p.Asn178Thr) c.797A>C (p.Asn266Thr) c.*191A>C (n.*191A>C) c.1322A>C (p.Asn441Thr) c.1313A>C (p.Asn438Thr) c.587A>C (p.Asn196Thr) c.659A>C (p.Asn220Thr) c.527A>C (p.Asn176Thr) n.1547A>C | |
6 | g.152061071A>G | CA150439565 | ESR1 | c.1316A>G (p.Asn439Ser) c.43-33408A>G (n.43-33408A>G) n.644A>G c.533A>G (p.Asn178Ser) c.797A>G (p.Asn266Ser) c.*191A>G (n.*191A>G) c.1322A>G (p.Asn441Ser) c.1313A>G (p.Asn438Ser) c.587A>G (p.Asn196Ser) c.659A>G (p.Asn220Ser) c.527A>G (p.Asn176Ser) n.1547A>G | dbSNP |
6 | g.152061071A>T | CA366213890 | ESR1 | c.1316A>T (p.Asn439Ile) c.43-33408A>T (n.43-33408A>T) n.644A>T c.533A>T (p.Asn178Ile) c.797A>T (p.Asn266Ile) c.*191A>T (n.*191A>T) c.1322A>T (p.Asn441Ile) c.1313A>T (p.Asn438Ile) c.587A>T (p.Asn196Ile) c.659A>T (p.Asn220Ile) c.527A>T (p.Asn176Ile) n.1547A>T | |
6 | g.152061072T>A | CA366213891 | ESR1 | c.1317T>A (p.Asn439Lys) c.43-33407T>A (n.43-33407T>A) n.645T>A c.534T>A (p.Asn178Lys) c.798T>A (p.Asn266Lys) c.*192T>A (n.*192T>A) c.1323T>A (p.Asn441Lys) c.1314T>A (p.Asn438Lys) c.588T>A (p.Asn196Lys) c.660T>A (p.Asn220Lys) c.528T>A (p.Asn176Lys) n.1548T>A | gnomAD v4 |
6 | g.152061072T>C | CA452893370 | ESR1 | c.1317T>C (p.Asn439=) c.43-33407T>C (n.43-33407T>C) n.645T>C c.534T>C (p.Asn178=) c.798T>C (p.Asn266=) c.*192T>C (n.*192T>C) c.1323T>C (p.Asn441=) c.1314T>C (p.Asn438=) c.588T>C (p.Asn196=) c.660T>C (p.Asn220=) c.528T>C (p.Asn176=) n.1548T>C | |
6 | g.152061072T>G | CA366213892 | ESR1 | c.1317T>G (p.Asn439Lys) c.43-33407T>G (n.43-33407T>G) n.645T>G c.534T>G (p.Asn178Lys) c.798T>G (p.Asn266Lys) c.*192T>G (n.*192T>G) c.1323T>G (p.Asn441Lys) c.1314T>G (p.Asn438Lys) c.588T>G (p.Asn196Lys) c.660T>G (p.Asn220Lys) c.528T>G (p.Asn176Lys) n.1548T>G | |
6 | g.152061073C>A | CA366213893 | ESR1 | c.1318C>A (p.Leu440Met) c.43-33406C>A (n.43-33406C>A) n.646C>A c.535C>A (p.Leu179Met) c.799C>A (p.Leu267Met) c.*193C>A (n.*193C>A) c.1324C>A (p.Leu442Met) c.1315C>A (p.Leu439Met) c.589C>A (p.Leu197Met) c.661C>A (p.Leu221Met) c.529C>A (p.Leu177Met) n.1549C>A | dbSNP |
6 | g.152061073C>G | CA366213894 | ESR1 | c.1318C>G (p.Leu440Val) c.43-33406C>G (n.43-33406C>G) n.646C>G c.535C>G (p.Leu179Val) c.799C>G (p.Leu267Val) c.*193C>G (n.*193C>G) c.1324C>G (p.Leu442Val) c.1315C>G (p.Leu439Val) c.589C>G (p.Leu197Val) c.661C>G (p.Leu221Val) c.529C>G (p.Leu177Val) n.1549C>G | dbSNP |
6 | g.152061073C>T | CA452893371 | ESR1 | c.1318C>T (p.Leu440=) c.43-33406C>T (n.43-33406C>T) n.646C>T c.535C>T (p.Leu179=) c.799C>T (p.Leu267=) c.*193C>T (n.*193C>T) c.1324C>T (p.Leu442=) c.1315C>T (p.Leu439=) c.589C>T (p.Leu197=) c.661C>T (p.Leu221=) c.529C>T (p.Leu177=) n.1549C>T | |
6 | g.152061074T>A | CA366213895 | ESR1 | c.1319T>A (p.Leu440Gln) c.43-33405T>A (n.43-33405T>A) n.647T>A c.536T>A (p.Leu179Gln) c.800T>A (p.Leu267Gln) c.*194T>A (n.*194T>A) c.1325T>A (p.Leu442Gln) c.1316T>A (p.Leu439Gln) c.590T>A (p.Leu197Gln) c.662T>A (p.Leu221Gln) c.530T>A (p.Leu177Gln) n.1550T>A | dbSNP |
6 | g.152061074T>C | CA366213897 | ESR1 | c.1319T>C (p.Leu440Pro) c.43-33405T>C (n.43-33405T>C) n.647T>C c.536T>C (p.Leu179Pro) c.800T>C (p.Leu267Pro) c.*194T>C (n.*194T>C) c.1325T>C (p.Leu442Pro) c.1316T>C (p.Leu439Pro) c.590T>C (p.Leu197Pro) c.662T>C (p.Leu221Pro) c.530T>C (p.Leu177Pro) n.1550T>C | |
6 | g.152061074T>G | CA366213896 | ESR1 | c.1319T>G (p.Leu440Arg) c.43-33405T>G (n.43-33405T>G) n.647T>G c.536T>G (p.Leu179Arg) c.800T>G (p.Leu267Arg) c.*194T>G (n.*194T>G) c.1325T>G (p.Leu442Arg) c.1316T>G (p.Leu439Arg) c.590T>G (p.Leu197Arg) c.662T>G (p.Leu221Arg) c.530T>G (p.Leu177Arg) n.1550T>G | |
6 | g.152061075G>A | CA4052410 | ESR1 | c.1320G>A (p.Leu440=) c.43-33404G>A (n.43-33404G>A) n.648G>A c.537G>A (p.Leu179=) c.801G>A (p.Leu267=) c.*195G>A (n.*195G>A) c.1326G>A (p.Leu442=) c.1317G>A (p.Leu439=) c.591G>A (p.Leu197=) c.663G>A (p.Leu221=) c.531G>A (p.Leu177=) n.1551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.152061075G>C | CA150439566 | ESR1 | c.1320G>C (p.Leu440=) c.43-33404G>C (n.43-33404G>C) n.648G>C c.537G>C (p.Leu179=) c.801G>C (p.Leu267=) c.*195G>C (n.*195G>C) c.1326G>C (p.Leu442=) c.1317G>C (p.Leu439=) c.591G>C (p.Leu197=) c.663G>C (p.Leu221=) c.531G>C (p.Leu177=) n.1551G>C | dbSNP gnomAD v4 |
6 | g.152061075G= | CA1673172618 | ESR1 | c.1320G= (p.Leu440=) c.43-33404G= (n.43-33404G=) n.648G= c.537G= (p.Leu179=) c.801G= (p.Leu267=) c.*195G= (n.*195G=) c.1326G= (p.Leu442=) c.1317G= (p.Leu439=) c.591G= (p.Leu197=) c.663G= (p.Leu221=) c.531G= (p.Leu177=) n.1551G= | |
6 | g.152061075G>T | CA452893372 | ESR1 | c.1320G>T (p.Leu440=) c.43-33404G>T (n.43-33404G>T) n.648G>T c.537G>T (p.Leu179=) c.801G>T (p.Leu267=) c.*195G>T (n.*195G>T) c.1326G>T (p.Leu442=) c.1317G>T (p.Leu439=) c.591G>T (p.Leu197=) c.663G>T (p.Leu221=) c.531G>T (p.Leu177=) n.1551G>T | gnomAD v4 |
6 | g.152061076C>A | CA366213898 | ESR1 | c.1321C>A (p.Gln441Lys) c.43-33403C>A (n.43-33403C>A) n.649C>A c.538C>A (p.Gln180Lys) c.802C>A (p.Gln268Lys) c.*196C>A (n.*196C>A) c.1327C>A (p.Gln443Lys) c.1318C>A (p.Gln440Lys) c.592C>A (p.Gln198Lys) c.664C>A (p.Gln222Lys) c.532C>A (p.Gln178Lys) n.1552C>A | gnomAD v4 |
6 | g.152061076C>G | CA366213899 | ESR1 | c.1321C>G (p.Gln441Glu) c.43-33403C>G (n.43-33403C>G) n.649C>G c.538C>G (p.Gln180Glu) c.802C>G (p.Gln268Glu) c.*196C>G (n.*196C>G) c.1327C>G (p.Gln443Glu) c.1318C>G (p.Gln440Glu) c.592C>G (p.Gln198Glu) c.664C>G (p.Gln222Glu) c.532C>G (p.Gln178Glu) n.1552C>G | dbSNP |
6 | g.152061076C>T | CA366213900 | ESR1 | c.1321C>T (p.Gln441Ter) c.43-33403C>T (n.43-33403C>T) n.649C>T c.538C>T (p.Gln180Ter) c.802C>T (p.Gln268Ter) c.*196C>T (n.*196C>T) c.1327C>T (p.Gln443Ter) c.1318C>T (p.Gln440Ter) c.592C>T (p.Gln198Ter) c.664C>T (p.Gln222Ter) c.532C>T (p.Gln178Ter) n.1552C>T | dbSNP |
6 | g.152061077A>C | CA366213901 | ESR1 | c.1322A>C (p.Gln441Pro) c.43-33402A>C (n.43-33402A>C) n.650A>C c.539A>C (p.Gln180Pro) c.803A>C (p.Gln268Pro) c.*197A>C (n.*197A>C) c.1328A>C (p.Gln443Pro) c.1319A>C (p.Gln440Pro) c.593A>C (p.Gln198Pro) c.665A>C (p.Gln222Pro) c.533A>C (p.Gln178Pro) n.1553A>C | |
6 | g.152061077A>G | CA366213902 | ESR1 | c.1322A>G (p.Gln441Arg) c.43-33402A>G (n.43-33402A>G) n.650A>G c.539A>G (p.Gln180Arg) c.803A>G (p.Gln268Arg) c.*197A>G (n.*197A>G) c.1328A>G (p.Gln443Arg) c.1319A>G (p.Gln440Arg) c.593A>G (p.Gln198Arg) c.665A>G (p.Gln222Arg) c.533A>G (p.Gln178Arg) n.1553A>G | dbSNP |
6 | g.152061077A>T | CA366213903 | ESR1 | c.1322A>T (p.Gln441Leu) c.43-33402A>T (n.43-33402A>T) n.650A>T c.539A>T (p.Gln180Leu) c.803A>T (p.Gln268Leu) c.*197A>T (n.*197A>T) c.1328A>T (p.Gln443Leu) c.1319A>T (p.Gln440Leu) c.593A>T (p.Gln198Leu) c.665A>T (p.Gln222Leu) c.533A>T (p.Gln178Leu) n.1553A>T | dbSNP |
6 | g.152061078G>A | CA452893373 | ESR1 | c.1323G>A (p.Gln441=) c.43-33401G>A (n.43-33401G>A) n.651G>A c.540G>A (p.Gln180=) c.804G>A (p.Gln268=) c.*198G>A (n.*198G>A) c.1329G>A (p.Gln443=) c.1320G>A (p.Gln440=) c.594G>A (p.Gln198=) c.666G>A (p.Gln222=) c.534G>A (p.Gln178=) n.1554G>A | gnomAD v4 |
6 | g.152061078G>C | CA366213904 | ESR1 | c.1323G>C (p.Gln441His) c.43-33401G>C (n.43-33401G>C) n.651G>C c.540G>C (p.Gln180His) c.804G>C (p.Gln268His) c.*198G>C (n.*198G>C) c.1329G>C (p.Gln443His) c.1320G>C (p.Gln440His) c.594G>C (p.Gln198His) c.666G>C (p.Gln222His) c.534G>C (p.Gln178His) n.1554G>C | dbSNP |
6 | g.152061078G= | CA1673172621 | ESR1 | c.1323G= (p.Gln441=) c.43-33401G= (n.43-33401G=) n.651G= c.540G= (p.Gln180=) c.804G= (p.Gln268=) c.*198G= (n.*198G=) c.1329G= (p.Gln443=) c.1320G= (p.Gln440=) c.594G= (p.Gln198=) c.666G= (p.Gln222=) c.534G= (p.Gln178=) n.1554G= | |
6 | g.152061078G>T | CA366213905 | ESR1 | c.1323G>T (p.Gln441His) c.43-33401G>T (n.43-33401G>T) n.651G>T c.540G>T (p.Gln180His) c.804G>T (p.Gln268His) c.*198G>T (n.*198G>T) c.1329G>T (p.Gln443His) c.1320G>T (p.Gln440His) c.594G>T (p.Gln198His) c.666G>T (p.Gln222His) c.534G>T (p.Gln178His) n.1554G>T | |
6 | g.152061079G>A | CA366213906 | ESR1 | c.1324G>A (p.Gly442Arg) c.43-33400G>A (n.43-33400G>A) n.652G>A c.541G>A (p.Gly181Arg) c.805G>A (p.Gly269Arg) c.*199G>A (n.*199G>A) c.1330G>A (p.Gly444Arg) c.1321G>A (p.Gly441Arg) c.595G>A (p.Gly199Arg) c.667G>A (p.Gly223Arg) c.535G>A (p.Gly179Arg) n.1555G>A | dbSNP |
6 | g.152061079G>C | CA366213907 | ESR1 | c.1324G>C (p.Gly442Arg) c.43-33400G>C (n.43-33400G>C) n.652G>C c.541G>C (p.Gly181Arg) c.805G>C (p.Gly269Arg) c.*199G>C (n.*199G>C) c.1330G>C (p.Gly444Arg) c.1321G>C (p.Gly441Arg) c.595G>C (p.Gly199Arg) c.667G>C (p.Gly223Arg) c.535G>C (p.Gly179Arg) n.1555G>C | dbSNP |
6 | g.152061079G>T | CA366213908 | ESR1 | c.1324G>T (p.Gly442Ter) c.43-33400G>T (n.43-33400G>T) n.652G>T c.541G>T (p.Gly181Ter) c.805G>T (p.Gly269Ter) c.*199G>T (n.*199G>T) c.1330G>T (p.Gly444Ter) c.1321G>T (p.Gly441Ter) c.595G>T (p.Gly199Ter) c.667G>T (p.Gly223Ter) c.535G>T (p.Gly179Ter) n.1555G>T | dbSNP |
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 |
6 | g.152061095G>C | CA366213946 | ESR1 | c.1340G>C (p.Cys447Ser) c.43-33384G>C (n.43-33384G>C) n.668G>C c.557G>C (p.Cys186Ser) c.821G>C (p.Cys274Ser) c.*215G>C (n.*215G>C) c.1346G>C (p.Cys449Ser) c.1337G>C (p.Cys446Ser) c.611G>C (p.Cys204Ser) c.683G>C (p.Cys228Ser) c.551G>C (p.Cys184Ser) n.1571G>C | dbSNP |
6 | g.152061095G>T | CA366213947 | ESR1 | c.1340G>T (p.Cys447Phe) c.43-33384G>T (n.43-33384G>T) n.668G>T c.557G>T (p.Cys186Phe) c.821G>T (p.Cys274Phe) c.*215G>T (n.*215G>T) c.1346G>T (p.Cys449Phe) c.1337G>T (p.Cys446Phe) c.611G>T (p.Cys204Phe) c.683G>T (p.Cys228Phe) c.551G>T (p.Cys184Phe) n.1571G>T | |
6 | g.152061096C>A | CA366213948 | ESR1 | c.1341C>A (p.Cys447Ter) c.43-33383C>A (n.43-33383C>A) n.669C>A c.558C>A (p.Cys186Ter) c.822C>A (p.Cys274Ter) c.*216C>A (n.*216C>A) c.1347C>A (p.Cys449Ter) c.1338C>A (p.Cys446Ter) c.612C>A (p.Cys204Ter) c.684C>A (p.Cys228Ter) c.552C>A (p.Cys184Ter) n.1572C>A | dbSNP |
6 | g.152061096C= | CA1673172634 | ESR1 | c.1341C= (p.Cys447=) c.43-33383C= (n.43-33383C=) n.669C= c.558C= (p.Cys186=) c.822C= (p.Cys274=) c.*216C= (n.*216C=) c.1347C= (p.Cys449=) c.1338C= (p.Cys446=) c.612C= (p.Cys204=) c.684C= (p.Cys228=) c.552C= (p.Cys184=) n.1572C= | |
6 | g.152061096C>G | CA366213949 | ESR1 | c.1341C>G (p.Cys447Trp) c.43-33383C>G (n.43-33383C>G) n.669C>G c.558C>G (p.Cys186Trp) c.822C>G (p.Cys274Trp) c.*216C>G (n.*216C>G) c.1347C>G (p.Cys449Trp) c.1338C>G (p.Cys446Trp) c.612C>G (p.Cys204Trp) c.684C>G (p.Cys228Trp) c.552C>G (p.Cys184Trp) n.1572C>G | dbSNP |
6 | g.152061096C>T | CA452893383 | ESR1 | c.1341C>T (p.Cys447=) c.43-33383C>T (n.43-33383C>T) n.669C>T c.558C>T (p.Cys186=) c.822C>T (p.Cys274=) c.*216C>T (n.*216C>T) c.1347C>T (p.Cys449=) c.1338C>T (p.Cys446=) c.612C>T (p.Cys204=) c.684C>T (p.Cys228=) c.552C>T (p.Cys184=) n.1572C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152061097C>A | CA366213950 | ESR1 | c.1342C>A (p.Leu448Ile) c.43-33382C>A (n.43-33382C>A) n.670C>A c.559C>A (p.Leu187Ile) c.823C>A (p.Leu275Ile) c.*217C>A (n.*217C>A) c.1348C>A (p.Leu450Ile) c.1339C>A (p.Leu447Ile) c.613C>A (p.Leu205Ile) c.685C>A (p.Leu229Ile) c.553C>A (p.Leu185Ile) n.1573C>A | dbSNP |
6 | g.152061097C>G | CA366213951 | ESR1 | c.1342C>G (p.Leu448Val) c.43-33382C>G (n.43-33382C>G) n.670C>G c.559C>G (p.Leu187Val) c.823C>G (p.Leu275Val) c.*217C>G (n.*217C>G) c.1348C>G (p.Leu450Val) c.1339C>G (p.Leu447Val) c.613C>G (p.Leu205Val) c.685C>G (p.Leu229Val) c.553C>G (p.Leu185Val) n.1573C>G | dbSNP |
6 | g.152061097C>T | CA366213952 | ESR1 | c.1342C>T (p.Leu448Phe) c.43-33382C>T (n.43-33382C>T) n.670C>T c.559C>T (p.Leu187Phe) c.823C>T (p.Leu275Phe) c.*217C>T (n.*217C>T) c.1348C>T (p.Leu450Phe) c.1339C>T (p.Leu447Phe) c.613C>T (p.Leu205Phe) c.685C>T (p.Leu229Phe) c.553C>T (p.Leu185Phe) n.1573C>T | dbSNP gnomAD v4 |
6 | g.152061098T>A | CA366213955 | ESR1 | c.1343T>A (p.Leu448His) c.43-33381T>A (n.43-33381T>A) n.671T>A c.560T>A (p.Leu187His) c.824T>A (p.Leu275His) c.*218T>A (n.*218T>A) c.1349T>A (p.Leu450His) c.1340T>A (p.Leu447His) c.614T>A (p.Leu205His) c.686T>A (p.Leu229His) c.554T>A (p.Leu185His) n.1574T>A | dbSNP |
6 | g.152061098T>C | CA366213954 | ESR1 | c.1343T>C (p.Leu448Pro) c.43-33381T>C (n.43-33381T>C) n.671T>C c.560T>C (p.Leu187Pro) c.824T>C (p.Leu275Pro) c.*218T>C (n.*218T>C) c.1349T>C (p.Leu450Pro) c.1340T>C (p.Leu447Pro) c.614T>C (p.Leu205Pro) c.686T>C (p.Leu229Pro) c.554T>C (p.Leu185Pro) n.1574T>C | dbSNP COSMIC COSMIC |
6 | g.152061098T>G | CA366213953 | ESR1 | c.1343T>G (p.Leu448Arg) c.43-33381T>G (n.43-33381T>G) n.671T>G c.560T>G (p.Leu187Arg) c.824T>G (p.Leu275Arg) c.*218T>G (n.*218T>G) c.1349T>G (p.Leu450Arg) c.1340T>G (p.Leu447Arg) c.614T>G (p.Leu205Arg) c.686T>G (p.Leu229Arg) c.554T>G (p.Leu185Arg) n.1574T>G | |
6 | g.152061099C>A | CA452893384 | ESR1 | c.1344C>A (p.Leu448=) c.43-33380C>A (n.43-33380C>A) n.672C>A c.561C>A (p.Leu187=) c.825C>A (p.Leu275=) c.*219C>A (n.*219C>A) c.1350C>A (p.Leu450=) c.1341C>A (p.Leu447=) c.615C>A (p.Leu205=) c.687C>A (p.Leu229=) c.555C>A (p.Leu185=) n.1575C>A | |
6 | g.152061099C= | CA1673172636 | ESR1 | c.1344C= (p.Leu448=) c.43-33380C= (n.43-33380C=) n.672C= c.561C= (p.Leu187=) c.825C= (p.Leu275=) c.*219C= (n.*219C=) c.1350C= (p.Leu450=) c.1341C= (p.Leu447=) c.615C= (p.Leu205=) c.687C= (p.Leu229=) c.555C= (p.Leu185=) n.1575C= | |
6 | g.152061099C>G | CA452893385 | ESR1 | c.1344C>G (p.Leu448=) c.43-33380C>G (n.43-33380C>G) n.672C>G c.561C>G (p.Leu187=) c.825C>G (p.Leu275=) c.*219C>G (n.*219C>G) c.1350C>G (p.Leu450=) c.1341C>G (p.Leu447=) c.615C>G (p.Leu205=) c.687C>G (p.Leu229=) c.555C>G (p.Leu185=) n.1575C>G | dbSNP COSMIC COSMIC |
6 | g.152061099C>T | CA452893386 | ESR1 | c.1344C>T (p.Leu448=) c.43-33380C>T (n.43-33380C>T) n.672C>T c.561C>T (p.Leu187=) c.825C>T (p.Leu275=) c.*219C>T (n.*219C>T) c.1350C>T (p.Leu450=) c.1341C>T (p.Leu447=) c.615C>T (p.Leu205=) c.687C>T (p.Leu229=) c.555C>T (p.Leu185=) n.1575C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152061100A>C | CA366213956 | ESR1 | c.1345A>C (p.Lys449Gln) c.43-33379A>C (n.43-33379A>C) n.673A>C c.562A>C (p.Lys188Gln) c.826A>C (p.Lys276Gln) c.*220A>C (n.*220A>C) c.1351A>C (p.Lys451Gln) c.1342A>C (p.Lys448Gln) c.616A>C (p.Lys206Gln) c.688A>C (p.Lys230Gln) c.556A>C (p.Lys186Gln) n.1576A>C | dbSNP |
6 | g.152061100A>G | CA366213957 | ESR1 | c.1345A>G (p.Lys449Glu) c.43-33379A>G (n.43-33379A>G) n.673A>G c.562A>G (p.Lys188Glu) c.826A>G (p.Lys276Glu) c.*220A>G (n.*220A>G) c.1351A>G (p.Lys451Glu) c.1342A>G (p.Lys448Glu) c.616A>G (p.Lys206Glu) c.688A>G (p.Lys230Glu) c.556A>G (p.Lys186Glu) n.1576A>G | |
6 | g.152061100A>T | CA366213958 | ESR1 | c.1345A>T (p.Lys449Ter) c.43-33379A>T (n.43-33379A>T) n.673A>T c.562A>T (p.Lys188Ter) c.826A>T (p.Lys276Ter) c.*220A>T (n.*220A>T) c.1351A>T (p.Lys451Ter) c.1342A>T (p.Lys448Ter) c.616A>T (p.Lys206Ter) c.688A>T (p.Lys230Ter) c.556A>T (p.Lys186Ter) n.1576A>T | |
6 | g.152061101A= | CA1673172639 | ESR1 | c.1346A= (p.Lys449=) c.43-33378A= (n.43-33378A=) n.674A= c.563A= (p.Lys188=) c.827A= (p.Lys276=) c.*221A= (n.*221A=) c.1352A= (p.Lys451=) c.1343A= (p.Lys448=) c.617A= (p.Lys206=) c.689A= (p.Lys230=) c.557A= (p.Lys186=) n.1577A= | |
6 | g.152061101A>C | CA366213959 | ESR1 | c.1346A>C (p.Lys449Thr) c.43-33378A>C (n.43-33378A>C) n.674A>C c.563A>C (p.Lys188Thr) c.827A>C (p.Lys276Thr) c.*221A>C (n.*221A>C) c.1352A>C (p.Lys451Thr) c.1343A>C (p.Lys448Thr) c.617A>C (p.Lys206Thr) c.689A>C (p.Lys230Thr) c.557A>C (p.Lys186Thr) n.1577A>C | |
6 | g.152061101A>G | CA366213960 | ESR1 | c.1346A>G (p.Lys449Arg) c.43-33378A>G (n.43-33378A>G) n.674A>G c.563A>G (p.Lys188Arg) c.827A>G (p.Lys276Arg) c.*221A>G (n.*221A>G) c.1352A>G (p.Lys451Arg) c.1343A>G (p.Lys448Arg) c.617A>G (p.Lys206Arg) c.689A>G (p.Lys230Arg) c.557A>G (p.Lys186Arg) n.1577A>G | dbSNP |
6 | g.152061101A>T | CA366213961 | ESR1 | c.1346A>T (p.Lys449Ile) c.43-33378A>T (n.43-33378A>T) n.674A>T c.563A>T (p.Lys188Ile) c.827A>T (p.Lys276Ile) c.*221A>T (n.*221A>T) c.1352A>T (p.Lys451Ile) c.1343A>T (p.Lys448Ile) c.617A>T (p.Lys206Ile) c.689A>T (p.Lys230Ile) c.557A>T (p.Lys186Ile) n.1577A>T | dbSNP |
6 | g.152061102A>C | CA366213963 | ESR1 | c.1347A>C (p.Lys449Asn) c.43-33377A>C (n.43-33377A>C) n.675A>C c.564A>C (p.Lys188Asn) c.828A>C (p.Lys276Asn) c.*222A>C (n.*222A>C) c.1353A>C (p.Lys451Asn) c.1344A>C (p.Lys448Asn) c.618A>C (p.Lys206Asn) c.690A>C (p.Lys230Asn) c.558A>C (p.Lys186Asn) n.1578A>C | |
6 | g.152061102A>G | CA452893387 | ESR1 | c.1347A>G (p.Lys449=) c.43-33377A>G (n.43-33377A>G) n.675A>G c.564A>G (p.Lys188=) c.828A>G (p.Lys276=) c.*222A>G (n.*222A>G) c.1353A>G (p.Lys451=) c.1344A>G (p.Lys448=) c.618A>G (p.Lys206=) c.690A>G (p.Lys230=) c.558A>G (p.Lys186=) n.1578A>G | dbSNP |
6 | g.152061102A>T | CA366213962 | ESR1 | c.1347A>T (p.Lys449Asn) c.43-33377A>T (n.43-33377A>T) n.675A>T c.564A>T (p.Lys188Asn) c.828A>T (p.Lys276Asn) c.*222A>T (n.*222A>T) c.1353A>T (p.Lys451Asn) c.1344A>T (p.Lys448Asn) c.618A>T (p.Lys206Asn) c.690A>T (p.Lys230Asn) c.558A>T (p.Lys186Asn) n.1578A>T | dbSNP |
6 | g.152061103T>A | CA366213964 | ESR1 | c.1348T>A (p.Ser450Thr) c.43-33376T>A (n.43-33376T>A) n.676T>A c.565T>A (p.Ser189Thr) c.829T>A (p.Ser277Thr) c.*223T>A (n.*223T>A) c.1354T>A (p.Ser452Thr) c.1345T>A (p.Ser449Thr) c.619T>A (p.Ser207Thr) c.691T>A (p.Ser231Thr) c.559T>A (p.Ser187Thr) n.1579T>A | dbSNP |
6 | g.152061103T>C | CA366213965 | ESR1 | c.1348T>C (p.Ser450Pro) c.43-33376T>C (n.43-33376T>C) n.676T>C c.565T>C (p.Ser189Pro) c.829T>C (p.Ser277Pro) c.*223T>C (n.*223T>C) c.1354T>C (p.Ser452Pro) c.1345T>C (p.Ser449Pro) c.619T>C (p.Ser207Pro) c.691T>C (p.Ser231Pro) c.559T>C (p.Ser187Pro) n.1579T>C | |
6 | g.152061103T>G | CA366213966 | ESR1 | c.1348T>G (p.Ser450Ala) c.43-33376T>G (n.43-33376T>G) n.676T>G c.565T>G (p.Ser189Ala) c.829T>G (p.Ser277Ala) c.*223T>G (n.*223T>G) c.1354T>G (p.Ser452Ala) c.1345T>G (p.Ser449Ala) c.619T>G (p.Ser207Ala) c.691T>G (p.Ser231Ala) c.559T>G (p.Ser187Ala) n.1579T>G | |
6 | g.152061103T= | CA1673172642 | ESR1 | c.1348T= (p.Ser450=) c.43-33376T= (n.43-33376T=) n.676T= c.565T= (p.Ser189=) c.829T= (p.Ser277=) c.*223T= (n.*223T=) c.1354T= (p.Ser452=) c.1345T= (p.Ser449=) c.619T= (p.Ser207=) c.691T= (p.Ser231=) c.559T= (p.Ser187=) n.1579T= | |
6 | g.152061104C>A | CA366213967 | ESR1 | c.1349C>A (p.Ser450Tyr) c.43-33375C>A (n.43-33375C>A) n.677C>A c.566C>A (p.Ser189Tyr) c.830C>A (p.Ser277Tyr) c.*224C>A (n.*224C>A) c.1355C>A (p.Ser452Tyr) c.1346C>A (p.Ser449Tyr) c.620C>A (p.Ser207Tyr) c.692C>A (p.Ser231Tyr) c.560C>A (p.Ser187Tyr) n.1580C>A | dbSNP |
6 | g.152061104C= | CA1673172644 | ESR1 | c.1349C= (p.Ser450=) c.43-33375C= (n.43-33375C=) n.677C= c.566C= (p.Ser189=) c.830C= (p.Ser277=) c.*224C= (n.*224C=) c.1355C= (p.Ser452=) c.1346C= (p.Ser449=) c.620C= (p.Ser207=) c.692C= (p.Ser231=) c.560C= (p.Ser187=) n.1580C= | |
6 | g.152061104C>G | CA150439567 | ESR1 | c.1349C>G (p.Ser450Cys) c.43-33375C>G (n.43-33375C>G) n.677C>G c.566C>G (p.Ser189Cys) c.830C>G (p.Ser277Cys) c.*224C>G (n.*224C>G) c.1355C>G (p.Ser452Cys) c.1346C>G (p.Ser449Cys) c.620C>G (p.Ser207Cys) c.692C>G (p.Ser231Cys) c.560C>G (p.Ser187Cys) n.1580C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152061104C>T | CA366213968 | ESR1 | c.1349C>T (p.Ser450Phe) c.43-33375C>T (n.43-33375C>T) n.677C>T c.566C>T (p.Ser189Phe) c.830C>T (p.Ser277Phe) c.*224C>T (n.*224C>T) c.1355C>T (p.Ser452Phe) c.1346C>T (p.Ser449Phe) c.620C>T (p.Ser207Phe) c.692C>T (p.Ser231Phe) c.560C>T (p.Ser187Phe) n.1580C>T | dbSNP gnomAD v4 |
6 | g.152061105T>A | CA452893388 | ESR1 | c.1350T>A (p.Ser450=) c.43-33374T>A (n.43-33374T>A) n.678T>A c.567T>A (p.Ser189=) c.831T>A (p.Ser277=) c.*225T>A (n.*225T>A) c.1356T>A (p.Ser452=) c.1347T>A (p.Ser449=) c.621T>A (p.Ser207=) c.693T>A (p.Ser231=) c.561T>A (p.Ser187=) n.1581T>A | |
6 | g.152061105T>C | CA452893389 | ESR1 | c.1350T>C (p.Ser450=) c.43-33374T>C (n.43-33374T>C) n.678T>C c.567T>C (p.Ser189=) c.831T>C (p.Ser277=) c.*225T>C (n.*225T>C) c.1356T>C (p.Ser452=) c.1347T>C (p.Ser449=) c.621T>C (p.Ser207=) c.693T>C (p.Ser231=) c.561T>C (p.Ser187=) n.1581T>C | dbSNP |
6 | g.152061105T>G | CA452893390 | ESR1 | c.1350T>G (p.Ser450=) c.43-33374T>G (n.43-33374T>G) n.678T>G c.567T>G (p.Ser189=) c.831T>G (p.Ser277=) c.*225T>G (n.*225T>G) c.1356T>G (p.Ser452=) c.1347T>G (p.Ser449=) c.621T>G (p.Ser207=) c.693T>G (p.Ser231=) c.561T>G (p.Ser187=) n.1581T>G | dbSNP |
6 | g.152061105T= | CA1673172646 | ESR1 | c.1350T= (p.Ser450=) c.43-33374T= (n.43-33374T=) n.678T= c.567T= (p.Ser189=) c.831T= (p.Ser277=) c.*225T= (n.*225T=) c.1356T= (p.Ser452=) c.1347T= (p.Ser449=) c.621T= (p.Ser207=) c.693T= (p.Ser231=) c.561T= (p.Ser187=) n.1581T= | |
6 | g.152061106A>C | CA366213969 | ESR1 | c.1351A>C (p.Ile451Leu) c.43-33373A>C (n.43-33373A>C) n.679A>C c.568A>C (p.Ile190Leu) c.832A>C (p.Ile278Leu) c.*226A>C (n.*226A>C) c.1357A>C (p.Ile453Leu) c.1348A>C (p.Ile450Leu) c.622A>C (p.Ile208Leu) c.694A>C (p.Ile232Leu) c.562A>C (p.Ile188Leu) n.1582A>C | |
6 | g.152061106A>G | CA366213971 | ESR1 | c.1351A>G (p.Ile451Val) c.43-33373A>G (n.43-33373A>G) n.679A>G c.568A>G (p.Ile190Val) c.832A>G (p.Ile278Val) c.*226A>G (n.*226A>G) c.1357A>G (p.Ile453Val) c.1348A>G (p.Ile450Val) c.622A>G (p.Ile208Val) c.694A>G (p.Ile232Val) c.562A>G (p.Ile188Val) n.1582A>G | |
6 | g.152061106A>T | CA366213970 | ESR1 | c.1351A>T (p.Ile451Phe) c.43-33373A>T (n.43-33373A>T) n.679A>T c.568A>T (p.Ile190Phe) c.832A>T (p.Ile278Phe) c.*226A>T (n.*226A>T) c.1357A>T (p.Ile453Phe) c.1348A>T (p.Ile450Phe) c.622A>T (p.Ile208Phe) c.694A>T (p.Ile232Phe) c.562A>T (p.Ile188Phe) n.1582A>T | |
6 | g.152061107T>A | CA366213972 | ESR1 | c.1352T>A (p.Ile451Asn) c.43-33372T>A (n.43-33372T>A) n.680T>A c.569T>A (p.Ile190Asn) c.833T>A (p.Ile278Asn) c.*227T>A (n.*227T>A) c.1358T>A (p.Ile453Asn) c.1349T>A (p.Ile450Asn) c.623T>A (p.Ile208Asn) c.695T>A (p.Ile232Asn) c.563T>A (p.Ile188Asn) n.1583T>A | |
6 | g.152061107T>C | CA366213973 | ESR1 | c.1352T>C (p.Ile451Thr) c.43-33372T>C (n.43-33372T>C) n.680T>C c.569T>C (p.Ile190Thr) c.833T>C (p.Ile278Thr) c.*227T>C (n.*227T>C) c.1358T>C (p.Ile453Thr) c.1349T>C (p.Ile450Thr) c.623T>C (p.Ile208Thr) c.695T>C (p.Ile232Thr) c.563T>C (p.Ile188Thr) n.1583T>C | gnomAD v4 |
6 | g.152061107T>G | CA366213974 | ESR1 | c.1352T>G (p.Ile451Ser) c.43-33372T>G (n.43-33372T>G) n.680T>G c.569T>G (p.Ile190Ser) c.833T>G (p.Ile278Ser) c.*227T>G (n.*227T>G) c.1358T>G (p.Ile453Ser) c.1349T>G (p.Ile450Ser) c.623T>G (p.Ile208Ser) c.695T>G (p.Ile232Ser) c.563T>G (p.Ile188Ser) n.1583T>G | |
6 | g.152061108T>A | CA452893391 | ESR1 | c.1353T>A (p.Ile451=) c.43-33371T>A (n.43-33371T>A) n.681T>A c.570T>A (p.Ile190=) c.834T>A (p.Ile278=) c.*228T>A (n.*228T>A) c.1359T>A (p.Ile453=) c.1350T>A (p.Ile450=) c.624T>A (p.Ile208=) c.696T>A (p.Ile232=) c.564T>A (p.Ile188=) n.1584T>A | dbSNP |
6 | g.152061108T>C | CA452893392 | ESR1 | c.1353T>C (p.Ile451=) c.43-33371T>C (n.43-33371T>C) n.681T>C c.570T>C (p.Ile190=) c.834T>C (p.Ile278=) c.*228T>C (n.*228T>C) c.1359T>C (p.Ile453=) c.1350T>C (p.Ile450=) c.624T>C (p.Ile208=) c.696T>C (p.Ile232=) c.564T>C (p.Ile188=) n.1584T>C | dbSNP |
6 | g.152061108T>G | CA366213975 | ESR1 | c.1353T>G (p.Ile451Met) c.43-33371T>G (n.43-33371T>G) n.681T>G c.570T>G (p.Ile190Met) c.834T>G (p.Ile278Met) c.*228T>G (n.*228T>G) c.1359T>G (p.Ile453Met) c.1350T>G (p.Ile450Met) c.624T>G (p.Ile208Met) c.696T>G (p.Ile232Met) c.564T>G (p.Ile188Met) n.1584T>G | |
6 | g.152061108T= | CA1673172648 | ESR1 | c.1353T= (p.Ile451=) c.43-33371T= (n.43-33371T=) n.681T= c.570T= (p.Ile190=) c.834T= (p.Ile278=) c.*228T= (n.*228T=) c.1359T= (p.Ile453=) c.1350T= (p.Ile450=) c.624T= (p.Ile208=) c.696T= (p.Ile232=) c.564T= (p.Ile188=) n.1584T= | |
6 | g.152061109A>C | CA366213976 | ESR1 | c.1354A>C (p.Ile452Leu) c.43-33370A>C (n.43-33370A>C) n.682A>C c.571A>C (p.Ile191Leu) c.835A>C (p.Ile279Leu) c.*229A>C (n.*229A>C) c.1360A>C (p.Ile454Leu) c.1351A>C (p.Ile451Leu) c.625A>C (p.Ile209Leu) c.697A>C (p.Ile233Leu) c.565A>C (p.Ile189Leu) n.1585A>C | |
6 | g.152061109A>G | CA366213977 | ESR1 | c.1354A>G (p.Ile452Val) c.43-33370A>G (n.43-33370A>G) n.682A>G c.571A>G (p.Ile191Val) c.835A>G (p.Ile279Val) c.*229A>G (n.*229A>G) c.1360A>G (p.Ile454Val) c.1351A>G (p.Ile451Val) c.625A>G (p.Ile209Val) c.697A>G (p.Ile233Val) c.565A>G (p.Ile189Val) n.1585A>G | |
6 | g.152061109A>T | CA366213978 | ESR1 | c.1354A>T (p.Ile452Phe) c.43-33370A>T (n.43-33370A>T) n.682A>T c.571A>T (p.Ile191Phe) c.835A>T (p.Ile279Phe) c.*229A>T (n.*229A>T) c.1360A>T (p.Ile454Phe) c.1351A>T (p.Ile451Phe) c.625A>T (p.Ile209Phe) c.697A>T (p.Ile233Phe) c.565A>T (p.Ile189Phe) n.1585A>T | |
6 | g.152061110T>A | CA366213979 | ESR1 | c.1355T>A (p.Ile452Asn) c.43-33369T>A (n.43-33369T>A) n.683T>A c.572T>A (p.Ile191Asn) c.836T>A (p.Ile279Asn) c.*230T>A (n.*230T>A) c.1361T>A (p.Ile454Asn) c.1352T>A (p.Ile451Asn) c.626T>A (p.Ile209Asn) c.698T>A (p.Ile233Asn) c.566T>A (p.Ile189Asn) n.1586T>A | dbSNP |
6 | g.152061110T>C | CA366213980 | ESR1 | c.1355T>C (p.Ile452Thr) c.43-33369T>C (n.43-33369T>C) n.683T>C c.572T>C (p.Ile191Thr) c.836T>C (p.Ile279Thr) c.*230T>C (n.*230T>C) c.1361T>C (p.Ile454Thr) c.1352T>C (p.Ile451Thr) c.626T>C (p.Ile209Thr) c.698T>C (p.Ile233Thr) c.566T>C (p.Ile189Thr) n.1586T>C | |
6 | g.152061110T>G | CA366213981 | ESR1 | c.1355T>G (p.Ile452Ser) c.43-33369T>G (n.43-33369T>G) n.683T>G c.572T>G (p.Ile191Ser) c.836T>G (p.Ile279Ser) c.*230T>G (n.*230T>G) c.1361T>G (p.Ile454Ser) c.1352T>G (p.Ile451Ser) c.626T>G (p.Ile209Ser) c.698T>G (p.Ile233Ser) c.566T>G (p.Ile189Ser) n.1586T>G | |
6 | g.152061110T= | CA1673172649 | ESR1 | c.1355T= (p.Ile452=) c.43-33369T= (n.43-33369T=) n.683T= c.572T= (p.Ile191=) c.836T= (p.Ile279=) c.*230T= (n.*230T=) c.1361T= (p.Ile454=) c.1352T= (p.Ile451=) c.626T= (p.Ile209=) c.698T= (p.Ile233=) c.566T= (p.Ile189=) n.1586T= | |
6 | g.152061111T>A | CA452893393 | ESR1 | c.1356T>A (p.Ile452=) c.43-33368T>A (n.43-33368T>A) n.684T>A c.573T>A (p.Ile191=) c.837T>A (p.Ile279=) c.*231T>A (n.*231T>A) c.1362T>A (p.Ile454=) c.1353T>A (p.Ile451=) c.627T>A (p.Ile209=) c.699T>A (p.Ile233=) c.567T>A (p.Ile189=) n.1587T>A | |
6 | g.152061111T>C | CA452893394 | ESR1 | c.1356T>C (p.Ile452=) c.43-33368T>C (n.43-33368T>C) n.684T>C c.573T>C (p.Ile191=) c.837T>C (p.Ile279=) c.*231T>C (n.*231T>C) c.1362T>C (p.Ile454=) c.1353T>C (p.Ile451=) c.627T>C (p.Ile209=) c.699T>C (p.Ile233=) c.567T>C (p.Ile189=) n.1587T>C | |
6 | g.152061111T>G | CA366213982 | ESR1 | c.1356T>G (p.Ile452Met) c.43-33368T>G (n.43-33368T>G) n.684T>G c.573T>G (p.Ile191Met) c.837T>G (p.Ile279Met) c.*231T>G (n.*231T>G) c.1362T>G (p.Ile454Met) c.1353T>G (p.Ile451Met) c.627T>G (p.Ile209Met) c.699T>G (p.Ile233Met) c.567T>G (p.Ile189Met) n.1587T>G | |
6 | g.152061112T>A | CA366213983 | ESR1 | c.1357T>A (p.Leu453Met) c.43-33367T>A (n.43-33367T>A) n.685T>A c.574T>A (p.Leu192Met) c.838T>A (p.Leu280Met) c.*232T>A (n.*232T>A) c.1363T>A (p.Leu455Met) c.1354T>A (p.Leu452Met) c.628T>A (p.Leu210Met) c.700T>A (p.Leu234Met) c.568T>A (p.Leu190Met) n.1588T>A | dbSNP |
6 | g.152061112T>C | CA452893395 | ESR1 | c.1357T>C (p.Leu453=) c.43-33367T>C (n.43-33367T>C) n.685T>C c.574T>C (p.Leu192=) c.838T>C (p.Leu280=) c.*232T>C (n.*232T>C) c.1363T>C (p.Leu455=) c.1354T>C (p.Leu452=) c.628T>C (p.Leu210=) c.700T>C (p.Leu234=) c.568T>C (p.Leu190=) n.1588T>C | |
6 | g.152061112T>G | CA366213984 | ESR1 | c.1357T>G (p.Leu453Val) c.43-33367T>G (n.43-33367T>G) n.685T>G c.574T>G (p.Leu192Val) c.838T>G (p.Leu280Val) c.*232T>G (n.*232T>G) c.1363T>G (p.Leu455Val) c.1354T>G (p.Leu452Val) c.628T>G (p.Leu210Val) c.700T>G (p.Leu234Val) c.568T>G (p.Leu190Val) n.1588T>G | COSMIC COSMIC |