UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152060999_152061007del | CA645542618 | ESR1 | c.1244_1252del (p.Gly415_Cys417del) c.43-33480_43-33472del (n.43-33480_43-33472del) n.572_580del c.461_469del (p.Gly154_Cys156del) c.263_271del (p.Gly88_Cys90del) c.725_733del (p.Gly242_Cys244del) c.*119_*127del (n.*119_*127del) c.1250_1258del (p.Gly417_Cys419del) c.1241_1249del (p.Gly414_Cys416del) c.515_523del (p.Gly172_Cys174del) c.587_595del (p.Gly196_Cys198del) c.455_463del (p.Gly152_Cys154del) n.1475_1483del | COSMIC |
| 6 | g.152061003del | CA2578772907 | ESR1 | c.1248del (p.Lys416AsnfsTer3) c.43-33476del (n.43-33476del) n.576del c.465del (p.Lys155AsnfsTer3) c.267del (p.Lys89AsnfsTer3) c.729del (p.Lys243AsnfsTer3) c.*123del (n.*123del) c.1254del (p.Lys418AsnfsTer3) c.1245del (p.Lys415AsnfsTer3) c.519del (p.Lys173AsnfsTer3) c.591del (p.Lys197AsnfsTer3) c.459del (p.Lys153AsnfsTer3) n.1479del | gnomAD v4 |
| 6 | g.152061001A>C | CA366213731 | ESR1 | c.1246A>C (p.Lys416Gln) c.43-33478A>C (n.43-33478A>C) n.574A>C c.463A>C (p.Lys155Gln) c.265A>C (p.Lys89Gln) c.727A>C (p.Lys243Gln) c.*121A>C (n.*121A>C) c.1252A>C (p.Lys418Gln) c.1243A>C (p.Lys415Gln) c.517A>C (p.Lys173Gln) c.589A>C (p.Lys197Gln) c.457A>C (p.Lys153Gln) n.1477A>C | |
| 6 | g.152061001A>G | CA366213732 | ESR1 | c.1246A>G (p.Lys416Glu) c.43-33478A>G (n.43-33478A>G) n.574A>G c.463A>G (p.Lys155Glu) c.265A>G (p.Lys89Glu) c.727A>G (p.Lys243Glu) c.*121A>G (n.*121A>G) c.1252A>G (p.Lys418Glu) c.1243A>G (p.Lys415Glu) c.517A>G (p.Lys173Glu) c.589A>G (p.Lys197Glu) c.457A>G (p.Lys153Glu) n.1477A>G | |
| 6 | g.152061001A>T | CA366213733 | ESR1 | c.1246A>T (p.Lys416Ter) c.43-33478A>T (n.43-33478A>T) n.574A>T c.463A>T (p.Lys155Ter) c.265A>T (p.Lys89Ter) c.727A>T (p.Lys243Ter) c.*121A>T (n.*121A>T) c.1252A>T (p.Lys418Ter) c.1243A>T (p.Lys415Ter) c.517A>T (p.Lys173Ter) c.589A>T (p.Lys197Ter) c.457A>T (p.Lys153Ter) n.1477A>T | dbSNP |
| 6 | g.152061002A>C | CA366213734 | ESR1 | c.1247A>C (p.Lys416Thr) c.43-33477A>C (n.43-33477A>C) n.575A>C c.464A>C (p.Lys155Thr) c.266A>C (p.Lys89Thr) c.728A>C (p.Lys243Thr) c.*122A>C (n.*122A>C) c.1253A>C (p.Lys418Thr) c.1244A>C (p.Lys415Thr) c.518A>C (p.Lys173Thr) c.590A>C (p.Lys197Thr) c.458A>C (p.Lys153Thr) n.1478A>C | |
| 6 | g.152061002A>G | CA366213736 | ESR1 | c.1247A>G (p.Lys416Arg) c.43-33477A>G (n.43-33477A>G) n.575A>G c.464A>G (p.Lys155Arg) c.266A>G (p.Lys89Arg) c.728A>G (p.Lys243Arg) c.*122A>G (n.*122A>G) c.1253A>G (p.Lys418Arg) c.1244A>G (p.Lys415Arg) c.518A>G (p.Lys173Arg) c.590A>G (p.Lys197Arg) c.458A>G (p.Lys153Arg) n.1478A>G | |
| 6 | g.152061002A>T | CA366213735 | ESR1 | c.1247A>T (p.Lys416Ile) c.43-33477A>T (n.43-33477A>T) n.575A>T c.464A>T (p.Lys155Ile) c.266A>T (p.Lys89Ile) c.728A>T (p.Lys243Ile) c.*122A>T (n.*122A>T) c.1253A>T (p.Lys418Ile) c.1244A>T (p.Lys415Ile) c.518A>T (p.Lys173Ile) c.590A>T (p.Lys197Ile) c.458A>T (p.Lys153Ile) n.1478A>T | |
| 6 | g.152061003A= | CA1673172563 | ESR1 | c.1248A= (p.Lys416=) c.43-33476A= (n.43-33476A=) n.576A= c.465A= (p.Lys155=) c.267A= (p.Lys89=) c.729A= (p.Lys243=) c.*123A= (n.*123A=) c.1254A= (p.Lys418=) c.1245A= (p.Lys415=) c.519A= (p.Lys173=) c.591A= (p.Lys197=) c.459A= (p.Lys153=) n.1479A= | |
| 6 | g.152061003A>C | CA366213737 | ESR1 | c.1248A>C (p.Lys416Asn) c.43-33476A>C (n.43-33476A>C) n.576A>C c.465A>C (p.Lys155Asn) c.267A>C (p.Lys89Asn) c.729A>C (p.Lys243Asn) c.*123A>C (n.*123A>C) c.1254A>C (p.Lys418Asn) c.1245A>C (p.Lys415Asn) c.519A>C (p.Lys173Asn) c.591A>C (p.Lys197Asn) c.459A>C (p.Lys153Asn) n.1479A>C | gnomAD v4 COSMIC |
| 6 | g.152061003A>G | CA452893325 | ESR1 | c.1248A>G (p.Lys416=) c.43-33476A>G (n.43-33476A>G) n.576A>G c.465A>G (p.Lys155=) c.267A>G (p.Lys89=) c.729A>G (p.Lys243=) c.*123A>G (n.*123A>G) c.1254A>G (p.Lys418=) c.1245A>G (p.Lys415=) c.519A>G (p.Lys173=) c.591A>G (p.Lys197=) c.459A>G (p.Lys153=) n.1479A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152061003A>T | CA366213738 | ESR1 | c.1248A>T (p.Lys416Asn) c.43-33476A>T (n.43-33476A>T) n.576A>T c.465A>T (p.Lys155Asn) c.267A>T (p.Lys89Asn) c.729A>T (p.Lys243Asn) c.*123A>T (n.*123A>T) c.1254A>T (p.Lys418Asn) c.1245A>T (p.Lys415Asn) c.519A>T (p.Lys173Asn) c.591A>T (p.Lys197Asn) c.459A>T (p.Lys153Asn) n.1479A>T | |
| 6 | g.152061004T>A | CA366213739 | ESR1 | c.1249T>A (p.Cys417Ser) c.43-33475T>A (n.43-33475T>A) n.577T>A c.466T>A (p.Cys156Ser) c.268T>A (p.Cys90Ser) c.730T>A (p.Cys244Ser) c.*124T>A (n.*124T>A) c.1255T>A (p.Cys419Ser) c.1246T>A (p.Cys416Ser) c.520T>A (p.Cys174Ser) c.592T>A (p.Cys198Ser) c.460T>A (p.Cys154Ser) n.1480T>A | |
| 6 | g.152061004T>C | CA366213740 | ESR1 | c.1249T>C (p.Cys417Arg) c.43-33475T>C (n.43-33475T>C) n.577T>C c.466T>C (p.Cys156Arg) c.268T>C (p.Cys90Arg) c.730T>C (p.Cys244Arg) c.*124T>C (n.*124T>C) c.1255T>C (p.Cys419Arg) c.1246T>C (p.Cys416Arg) c.520T>C (p.Cys174Arg) c.592T>C (p.Cys198Arg) c.460T>C (p.Cys154Arg) n.1480T>C | |
| 6 | g.152061004T>G | CA366213741 | ESR1 | c.1249T>G (p.Cys417Gly) c.43-33475T>G (n.43-33475T>G) n.577T>G c.466T>G (p.Cys156Gly) c.268T>G (p.Cys90Gly) c.730T>G (p.Cys244Gly) c.*124T>G (n.*124T>G) c.1255T>G (p.Cys419Gly) c.1246T>G (p.Cys416Gly) c.520T>G (p.Cys174Gly) c.592T>G (p.Cys198Gly) c.460T>G (p.Cys154Gly) n.1480T>G | |
| 6 | g.152061005G>A | CA366213743 | ESR1 | c.1250G>A (p.Cys417Tyr) c.43-33474G>A (n.43-33474G>A) n.578G>A c.467G>A (p.Cys156Tyr) c.269G>A (p.Cys90Tyr) c.731G>A (p.Cys244Tyr) c.*125G>A (n.*125G>A) c.1256G>A (p.Cys419Tyr) c.1247G>A (p.Cys416Tyr) c.521G>A (p.Cys174Tyr) c.593G>A (p.Cys198Tyr) c.461G>A (p.Cys154Tyr) n.1481G>A | dbSNP |
| 6 | g.152061005G>C | CA366213744 | ESR1 | c.1250G>C (p.Cys417Ser) c.43-33474G>C (n.43-33474G>C) n.578G>C c.467G>C (p.Cys156Ser) c.269G>C (p.Cys90Ser) c.731G>C (p.Cys244Ser) c.*125G>C (n.*125G>C) c.1256G>C (p.Cys419Ser) c.1247G>C (p.Cys416Ser) c.521G>C (p.Cys174Ser) c.593G>C (p.Cys198Ser) c.461G>C (p.Cys154Ser) n.1481G>C | dbSNP |
| 6 | g.152061005G>T | CA366213742 | ESR1 | c.1250G>T (p.Cys417Phe) c.43-33474G>T (n.43-33474G>T) n.578G>T c.467G>T (p.Cys156Phe) c.269G>T (p.Cys90Phe) c.731G>T (p.Cys244Phe) c.*125G>T (n.*125G>T) c.1256G>T (p.Cys419Phe) c.1247G>T (p.Cys416Phe) c.521G>T (p.Cys174Phe) c.593G>T (p.Cys198Phe) c.461G>T (p.Cys154Phe) n.1481G>T | |
| 6 | g.152061006T>A | CA366213745 | ESR1 | c.1251T>A (p.Cys417Ter) c.43-33473T>A (n.43-33473T>A) n.579T>A c.468T>A (p.Cys156Ter) c.270T>A (p.Cys90Ter) c.732T>A (p.Cys244Ter) c.*126T>A (n.*126T>A) c.1257T>A (p.Cys419Ter) c.1248T>A (p.Cys416Ter) c.522T>A (p.Cys174Ter) c.594T>A (p.Cys198Ter) c.462T>A (p.Cys154Ter) n.1482T>A | |
| 6 | g.152061006T>C | CA452893326 | ESR1 | c.1251T>C (p.Cys417=) c.43-33473T>C (n.43-33473T>C) n.579T>C c.468T>C (p.Cys156=) c.270T>C (p.Cys90=) c.732T>C (p.Cys244=) c.*126T>C (n.*126T>C) c.1257T>C (p.Cys419=) c.1248T>C (p.Cys416=) c.522T>C (p.Cys174=) c.594T>C (p.Cys198=) c.462T>C (p.Cys154=) n.1482T>C | gnomAD v4 |
| 6 | g.152061006T>G | CA366213746 | ESR1 | c.1251T>G (p.Cys417Trp) c.43-33473T>G (n.43-33473T>G) n.579T>G c.468T>G (p.Cys156Trp) c.270T>G (p.Cys90Trp) c.732T>G (p.Cys244Trp) c.*126T>G (n.*126T>G) c.1257T>G (p.Cys419Trp) c.1248T>G (p.Cys416Trp) c.522T>G (p.Cys174Trp) c.594T>G (p.Cys198Trp) c.462T>G (p.Cys154Trp) n.1482T>G | |
| 6 | g.152061007G>A | CA366213747 | ESR1 | c.1252G>A (p.Val418Ile) c.43-33472G>A (n.43-33472G>A) n.580G>A c.469G>A (p.Val157Ile) c.271G>A (p.Val91Ile) c.733G>A (p.Val245Ile) c.*127G>A (n.*127G>A) c.1258G>A (p.Val420Ile) c.1249G>A (p.Val417Ile) c.523G>A (p.Val175Ile) c.595G>A (p.Val199Ile) c.463G>A (p.Val155Ile) n.1483G>A | dbSNP |
| 6 | g.152061007G>C | CA366213748 | ESR1 | c.1252G>C (p.Val418Leu) c.43-33472G>C (n.43-33472G>C) n.580G>C c.469G>C (p.Val157Leu) c.271G>C (p.Val91Leu) c.733G>C (p.Val245Leu) c.*127G>C (n.*127G>C) c.1258G>C (p.Val420Leu) c.1249G>C (p.Val417Leu) c.523G>C (p.Val175Leu) c.595G>C (p.Val199Leu) c.463G>C (p.Val155Leu) n.1483G>C | dbSNP |
| 6 | g.152061007G>T | CA366213749 | ESR1 | c.1252G>T (p.Val418Leu) c.43-33472G>T (n.43-33472G>T) n.580G>T c.469G>T (p.Val157Leu) c.271G>T (p.Val91Leu) c.733G>T (p.Val245Leu) c.*127G>T (n.*127G>T) c.1258G>T (p.Val420Leu) c.1249G>T (p.Val417Leu) c.523G>T (p.Val175Leu) c.595G>T (p.Val199Leu) c.463G>T (p.Val155Leu) n.1483G>T | |
| 6 | g.152061008T>A | CA366213750 | ESR1 | c.1253T>A (p.Val418Glu) c.43-33471T>A (n.43-33471T>A) n.581T>A c.470T>A (p.Val157Glu) c.272T>A (p.Val91Glu) c.734T>A (p.Val245Glu) c.*128T>A (n.*128T>A) c.1259T>A (p.Val420Glu) c.1250T>A (p.Val417Glu) c.524T>A (p.Val175Glu) c.596T>A (p.Val199Glu) c.464T>A (p.Val155Glu) n.1484T>A | |
| 6 | g.152061008T>C | CA366213751 | ESR1 | c.1253T>C (p.Val418Ala) c.43-33471T>C (n.43-33471T>C) n.581T>C c.470T>C (p.Val157Ala) c.272T>C (p.Val91Ala) c.734T>C (p.Val245Ala) c.*128T>C (n.*128T>C) c.1259T>C (p.Val420Ala) c.1250T>C (p.Val417Ala) c.524T>C (p.Val175Ala) c.596T>C (p.Val199Ala) c.464T>C (p.Val155Ala) n.1484T>C | |
| 6 | g.152061008T>G | CA366213752 | ESR1 | c.1253T>G (p.Val418Gly) c.43-33471T>G (n.43-33471T>G) n.581T>G c.470T>G (p.Val157Gly) c.272T>G (p.Val91Gly) c.734T>G (p.Val245Gly) c.*128T>G (n.*128T>G) c.1259T>G (p.Val420Gly) c.1250T>G (p.Val417Gly) c.524T>G (p.Val175Gly) c.596T>G (p.Val199Gly) c.464T>G (p.Val155Gly) n.1484T>G | |
| 6 | g.152061009A>C | CA452893327 | ESR1 | c.1254A>C (p.Val418=) c.43-33470A>C (n.43-33470A>C) n.582A>C c.471A>C (p.Val157=) c.273A>C (p.Val91=) c.735A>C (p.Val245=) c.*129A>C (n.*129A>C) c.1260A>C (p.Val420=) c.1251A>C (p.Val417=) c.525A>C (p.Val175=) c.597A>C (p.Val199=) c.465A>C (p.Val155=) n.1485A>C | |
| 6 | g.152061009A>G | CA452893328 | ESR1 | c.1254A>G (p.Val418=) c.43-33470A>G (n.43-33470A>G) n.582A>G c.471A>G (p.Val157=) c.273A>G (p.Val91=) c.735A>G (p.Val245=) c.*129A>G (n.*129A>G) c.1260A>G (p.Val420=) c.1251A>G (p.Val417=) c.525A>G (p.Val175=) c.597A>G (p.Val199=) c.465A>G (p.Val155=) n.1485A>G | gnomAD v4 |
| 6 | g.152061009A>T | CA452893329 | ESR1 | c.1254A>T (p.Val418=) c.43-33470A>T (n.43-33470A>T) n.582A>T c.471A>T (p.Val157=) c.273A>T (p.Val91=) c.735A>T (p.Val245=) c.*129A>T (n.*129A>T) c.1260A>T (p.Val420=) c.1251A>T (p.Val417=) c.525A>T (p.Val175=) c.597A>T (p.Val199=) c.465A>T (p.Val155=) n.1485A>T | dbSNP |
| 6 | g.152061010G>A | CA366213755 | ESR1 | c.1255G>A (p.Glu419Lys) c.43-33469G>A (n.43-33469G>A) n.583G>A c.472G>A (p.Glu158Lys) c.274G>A (p.Glu92Lys) c.736G>A (p.Glu246Lys) c.*130G>A (n.*130G>A) c.1261G>A (p.Glu421Lys) c.1252G>A (p.Glu418Lys) c.526G>A (p.Glu176Lys) c.598G>A (p.Glu200Lys) c.466G>A (p.Glu156Lys) n.1486G>A | |
| 6 | g.152061010G>C | CA366213753 | ESR1 | c.1255G>C (p.Glu419Gln) c.43-33469G>C (n.43-33469G>C) n.583G>C c.472G>C (p.Glu158Gln) c.274G>C (p.Glu92Gln) c.736G>C (p.Glu246Gln) c.*130G>C (n.*130G>C) c.1261G>C (p.Glu421Gln) c.1252G>C (p.Glu418Gln) c.526G>C (p.Glu176Gln) c.598G>C (p.Glu200Gln) c.466G>C (p.Glu156Gln) n.1486G>C | |
| 6 | g.152061010G>T | CA366213754 | ESR1 | c.1255G>T (p.Glu419Ter) c.43-33469G>T (n.43-33469G>T) n.583G>T c.472G>T (p.Glu158Ter) c.274G>T (p.Glu92Ter) c.736G>T (p.Glu246Ter) c.*130G>T (n.*130G>T) c.1261G>T (p.Glu421Ter) c.1252G>T (p.Glu418Ter) c.526G>T (p.Glu176Ter) c.598G>T (p.Glu200Ter) c.466G>T (p.Glu156Ter) n.1486G>T | |
| 6 | g.152061011A>C | CA366213756 | ESR1 | c.1256A>C (p.Glu419Ala) c.43-33468A>C (n.43-33468A>C) n.584A>C c.473A>C (p.Glu158Ala) c.275A>C (p.Glu92Ala) c.737A>C (p.Glu246Ala) c.*131A>C (n.*131A>C) c.1262A>C (p.Glu421Ala) c.1253A>C (p.Glu418Ala) c.527A>C (p.Glu176Ala) c.599A>C (p.Glu200Ala) c.467A>C (p.Glu156Ala) n.1487A>C | |
| 6 | g.152061011A>G | CA366213757 | ESR1 | c.1256A>G (p.Glu419Gly) c.43-33468A>G (n.43-33468A>G) n.584A>G c.473A>G (p.Glu158Gly) c.275A>G (p.Glu92Gly) c.737A>G (p.Glu246Gly) c.*131A>G (n.*131A>G) c.1262A>G (p.Glu421Gly) c.1253A>G (p.Glu418Gly) c.527A>G (p.Glu176Gly) c.599A>G (p.Glu200Gly) c.467A>G (p.Glu156Gly) n.1487A>G | |
| 6 | g.152061011A>T | CA366213758 | ESR1 | c.1256A>T (p.Glu419Val) c.43-33468A>T (n.43-33468A>T) n.584A>T c.473A>T (p.Glu158Val) c.275A>T (p.Glu92Val) c.737A>T (p.Glu246Val) c.*131A>T (n.*131A>T) c.1262A>T (p.Glu421Val) c.1253A>T (p.Glu418Val) c.527A>T (p.Glu176Val) c.599A>T (p.Glu200Val) c.467A>T (p.Glu156Val) n.1487A>T | |
| 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 |