Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152060994C>ACA366213715ESR1c.1239C>A (p.Asn413Lys)
c.43-33485C>A (n.43-33485C>A)
n.567C>A
c.456C>A (p.Asn152Lys)
c.258C>A (p.Asn86Lys)
c.720C>A (p.Asn240Lys)
c.*114C>A (n.*114C>A)
c.1245C>A (p.Asn415Lys)
c.1236C>A (p.Asn412Lys)
c.510C>A (p.Asn170Lys)
c.582C>A (p.Asn194Lys)
c.450C>A (p.Asn150Lys)
n.1470C>A
 dbSNP
6g.152060994C=CA1673172561ESR1c.1239C= (p.Asn413=)
c.43-33485C= (n.43-33485C=)
n.567C=
c.456C= (p.Asn152=)
c.258C= (p.Asn86=)
c.720C= (p.Asn240=)
c.*114C= (n.*114C=)
c.1245C= (p.Asn415=)
c.1236C= (p.Asn412=)
c.510C= (p.Asn170=)
c.582C= (p.Asn194=)
c.450C= (p.Asn150=)
n.1470C=
6g.152060994C>GCA366213716ESR1c.1239C>G (p.Asn413Lys)
c.43-33485C>G (n.43-33485C>G)
n.567C>G
c.456C>G (p.Asn152Lys)
c.258C>G (p.Asn86Lys)
c.720C>G (p.Asn240Lys)
c.*114C>G (n.*114C>G)
c.1245C>G (p.Asn415Lys)
c.1236C>G (p.Asn412Lys)
c.510C>G (p.Asn170Lys)
c.582C>G (p.Asn194Lys)
c.450C>G (p.Asn150Lys)
n.1470C>G
 dbSNP
6g.152060994C>TCA452893320ESR1c.1239C>T (p.Asn413=)
c.43-33485C>T (n.43-33485C>T)
n.567C>T
c.456C>T (p.Asn152=)
c.258C>T (p.Asn86=)
c.720C>T (p.Asn240=)
c.*114C>T (n.*114C>T)
c.1245C>T (p.Asn415=)
c.1236C>T (p.Asn412=)
c.510C>T (p.Asn170=)
c.582C>T (p.Asn194=)
c.450C>T (p.Asn150=)
n.1470C>T
 dbSNP
6g.152060995C>ACA366213717ESR1c.1240C>A (p.Gln414Lys)
c.43-33484C>A (n.43-33484C>A)
n.568C>A
c.457C>A (p.Gln153Lys)
c.259C>A (p.Gln87Lys)
c.721C>A (p.Gln241Lys)
c.*115C>A (n.*115C>A)
c.1246C>A (p.Gln416Lys)
c.1237C>A (p.Gln413Lys)
c.511C>A (p.Gln171Lys)
c.583C>A (p.Gln195Lys)
c.451C>A (p.Gln151Lys)
n.1471C>A
6g.152060995C>GCA366213718ESR1c.1240C>G (p.Gln414Glu)
c.43-33484C>G (n.43-33484C>G)
n.568C>G
c.457C>G (p.Gln153Glu)
c.259C>G (p.Gln87Glu)
c.721C>G (p.Gln241Glu)
c.*115C>G (n.*115C>G)
c.1246C>G (p.Gln416Glu)
c.1237C>G (p.Gln413Glu)
c.511C>G (p.Gln171Glu)
c.583C>G (p.Gln195Glu)
c.451C>G (p.Gln151Glu)
n.1471C>G
 dbSNP
6g.152060995C>TCA366213719ESR1c.1240C>T (p.Gln414Ter)
c.43-33484C>T (n.43-33484C>T)
n.568C>T
c.457C>T (p.Gln153Ter)
c.259C>T (p.Gln87Ter)
c.721C>T (p.Gln241Ter)
c.*115C>T (n.*115C>T)
c.1246C>T (p.Gln416Ter)
c.1237C>T (p.Gln413Ter)
c.511C>T (p.Gln171Ter)
c.583C>T (p.Gln195Ter)
c.451C>T (p.Gln151Ter)
n.1471C>T
 dbSNP
6g.152060996A>CCA366213720ESR1c.1241A>C (p.Gln414Pro)
c.43-33483A>C (n.43-33483A>C)
n.569A>C
c.458A>C (p.Gln153Pro)
c.260A>C (p.Gln87Pro)
c.722A>C (p.Gln241Pro)
c.*116A>C (n.*116A>C)
c.1247A>C (p.Gln416Pro)
c.1238A>C (p.Gln413Pro)
c.512A>C (p.Gln171Pro)
c.584A>C (p.Gln195Pro)
c.452A>C (p.Gln151Pro)
n.1472A>C
6g.152060996A>GCA366213721ESR1c.1241A>G (p.Gln414Arg)
c.43-33483A>G (n.43-33483A>G)
n.569A>G
c.458A>G (p.Gln153Arg)
c.260A>G (p.Gln87Arg)
c.722A>G (p.Gln241Arg)
c.*116A>G (n.*116A>G)
c.1247A>G (p.Gln416Arg)
c.1238A>G (p.Gln413Arg)
c.512A>G (p.Gln171Arg)
c.584A>G (p.Gln195Arg)
c.452A>G (p.Gln151Arg)
n.1472A>G
6g.152060996A>TCA366213722ESR1c.1241A>T (p.Gln414Leu)
c.43-33483A>T (n.43-33483A>T)
n.569A>T
c.458A>T (p.Gln153Leu)
c.260A>T (p.Gln87Leu)
c.722A>T (p.Gln241Leu)
c.*116A>T (n.*116A>T)
c.1247A>T (p.Gln416Leu)
c.1238A>T (p.Gln413Leu)
c.512A>T (p.Gln171Leu)
c.584A>T (p.Gln195Leu)
c.452A>T (p.Gln151Leu)
n.1472A>T
 dbSNP
6g.152060997G>ACA452893321ESR1c.1242G>A (p.Gln414=)
c.43-33482G>A (n.43-33482G>A)
n.570G>A
c.459G>A (p.Gln153=)
c.261G>A (p.Gln87=)
c.723G>A (p.Gln241=)
c.*117G>A (n.*117G>A)
c.1248G>A (p.Gln416=)
c.1239G>A (p.Gln413=)
c.513G>A (p.Gln171=)
c.585G>A (p.Gln195=)
c.453G>A (p.Gln151=)
n.1473G>A
 dbSNP
6g.152060997G>CCA366213723ESR1c.1242G>C (p.Gln414His)
c.43-33482G>C (n.43-33482G>C)
n.570G>C
c.459G>C (p.Gln153His)
c.261G>C (p.Gln87His)
c.723G>C (p.Gln241His)
c.*117G>C (n.*117G>C)
c.1248G>C (p.Gln416His)
c.1239G>C (p.Gln413His)
c.513G>C (p.Gln171His)
c.585G>C (p.Gln195His)
c.453G>C (p.Gln151His)
n.1473G>C
 dbSNP
6g.152060997G>TCA366213724ESR1c.1242G>T (p.Gln414His)
c.43-33482G>T (n.43-33482G>T)
n.570G>T
c.459G>T (p.Gln153His)
c.261G>T (p.Gln87His)
c.723G>T (p.Gln241His)
c.*117G>T (n.*117G>T)
c.1248G>T (p.Gln416His)
c.1239G>T (p.Gln413His)
c.513G>T (p.Gln171His)
c.585G>T (p.Gln195His)
c.453G>T (p.Gln151His)
n.1473G>T
 dbSNP gnomAD v4
6g.152060999delCA2713475249ESR1c.1244del (p.Gly415GlufsTer4)
c.43-33480del (n.43-33480del)
n.572del
c.461del (p.Gly154GlufsTer4)
c.263del (p.Gly88GlufsTer4)
c.725del (p.Gly242GlufsTer4)
c.*119del (n.*119del)
c.1250del (p.Gly417GlufsTer4)
c.1241del (p.Gly414GlufsTer4)
c.515del (p.Gly172GlufsTer4)
c.587del (p.Gly196GlufsTer4)
c.455del (p.Gly152GlufsTer4)
n.1475del
 dbSNP
6g.152060998G>ACA366213726ESR1c.1243G>A (p.Gly415Arg)
c.43-33481G>A (n.43-33481G>A)
n.571G>A
c.460G>A (p.Gly154Arg)
c.262G>A (p.Gly88Arg)
c.724G>A (p.Gly242Arg)
c.*118G>A (n.*118G>A)
c.1249G>A (p.Gly417Arg)
c.1240G>A (p.Gly414Arg)
c.514G>A (p.Gly172Arg)
c.586G>A (p.Gly196Arg)
c.454G>A (p.Gly152Arg)
n.1474G>A
 dbSNP COSMIC COSMIC
6g.152060998G>CCA366213727ESR1c.1243G>C (p.Gly415Arg)
c.43-33481G>C (n.43-33481G>C)
n.571G>C
c.460G>C (p.Gly154Arg)
c.262G>C (p.Gly88Arg)
c.724G>C (p.Gly242Arg)
c.*118G>C (n.*118G>C)
c.1249G>C (p.Gly417Arg)
c.1240G>C (p.Gly414Arg)
c.514G>C (p.Gly172Arg)
c.586G>C (p.Gly196Arg)
c.454G>C (p.Gly152Arg)
n.1474G>C
 dbSNP
6g.152060998G>TCA366213725ESR1c.1243G>T (p.Gly415Ter)
c.43-33481G>T (n.43-33481G>T)
n.571G>T
c.460G>T (p.Gly154Ter)
c.262G>T (p.Gly88Ter)
c.724G>T (p.Gly242Ter)
c.*118G>T (n.*118G>T)
c.1249G>T (p.Gly417Ter)
c.1240G>T (p.Gly414Ter)
c.514G>T (p.Gly172Ter)
c.586G>T (p.Gly196Ter)
c.454G>T (p.Gly152Ter)
n.1474G>T
 dbSNP
6g.152060999_152061007delCA645542618ESR1c.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
6g.152060999G>ACA366213728ESR1c.1244G>A (p.Gly415Glu)
c.43-33480G>A (n.43-33480G>A)
n.572G>A
c.461G>A (p.Gly154Glu)
c.263G>A (p.Gly88Glu)
c.725G>A (p.Gly242Glu)
c.*119G>A (n.*119G>A)
c.1250G>A (p.Gly417Glu)
c.1241G>A (p.Gly414Glu)
c.515G>A (p.Gly172Glu)
c.587G>A (p.Gly196Glu)
c.455G>A (p.Gly152Glu)
n.1475G>A
 dbSNP
6g.152060999G>CCA366213729ESR1c.1244G>C (p.Gly415Ala)
c.43-33480G>C (n.43-33480G>C)
n.572G>C
c.461G>C (p.Gly154Ala)
c.263G>C (p.Gly88Ala)
c.725G>C (p.Gly242Ala)
c.*119G>C (n.*119G>C)
c.1250G>C (p.Gly417Ala)
c.1241G>C (p.Gly414Ala)
c.515G>C (p.Gly172Ala)
c.587G>C (p.Gly196Ala)
c.455G>C (p.Gly152Ala)
n.1475G>C
 dbSNP
6g.152060999G>TCA366213730ESR1c.1244G>T (p.Gly415Val)
c.43-33480G>T (n.43-33480G>T)
n.572G>T
c.461G>T (p.Gly154Val)
c.263G>T (p.Gly88Val)
c.725G>T (p.Gly242Val)
c.*119G>T (n.*119G>T)
c.1250G>T (p.Gly417Val)
c.1241G>T (p.Gly414Val)
c.515G>T (p.Gly172Val)
c.587G>T (p.Gly196Val)
c.455G>T (p.Gly152Val)
n.1475G>T
6g.152061000A>CCA452893322ESR1c.1245A>C (p.Gly415=)
c.43-33479A>C (n.43-33479A>C)
n.573A>C
c.462A>C (p.Gly154=)
c.264A>C (p.Gly88=)
c.726A>C (p.Gly242=)
c.*120A>C (n.*120A>C)
c.1251A>C (p.Gly417=)
c.1242A>C (p.Gly414=)
c.516A>C (p.Gly172=)
c.588A>C (p.Gly196=)
c.456A>C (p.Gly152=)
n.1476A>C
6g.152061000A>GCA452893323ESR1c.1245A>G (p.Gly415=)
c.43-33479A>G (n.43-33479A>G)
n.573A>G
c.462A>G (p.Gly154=)
c.264A>G (p.Gly88=)
c.726A>G (p.Gly242=)
c.*120A>G (n.*120A>G)
c.1251A>G (p.Gly417=)
c.1242A>G (p.Gly414=)
c.516A>G (p.Gly172=)
c.588A>G (p.Gly196=)
c.456A>G (p.Gly152=)
n.1476A>G
 dbSNP
6g.152061000A>TCA452893324ESR1c.1245A>T (p.Gly415=)
c.43-33479A>T (n.43-33479A>T)
n.573A>T
c.462A>T (p.Gly154=)
c.264A>T (p.Gly88=)
c.726A>T (p.Gly242=)
c.*120A>T (n.*120A>T)
c.1251A>T (p.Gly417=)
c.1242A>T (p.Gly414=)
c.516A>T (p.Gly172=)
c.588A>T (p.Gly196=)
c.456A>T (p.Gly152=)
n.1476A>T
6g.152061003delCA2578772907ESR1c.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
6g.152061001A>CCA366213731ESR1c.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
6g.152061001A>GCA366213732ESR1c.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
6g.152061001A>TCA366213733ESR1c.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
6g.152061002A>CCA366213734ESR1c.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
6g.152061002A>GCA366213736ESR1c.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
6g.152061002A>TCA366213735ESR1c.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
6g.152061003A=CA1673172563ESR1c.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=
6g.152061003A>CCA366213737ESR1c.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
6g.152061003A>GCA452893325ESR1c.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
6g.152061003A>TCA366213738ESR1c.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
6g.152061004T>ACA366213739ESR1c.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
6g.152061004T>CCA366213740ESR1c.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
6g.152061004T>GCA366213741ESR1c.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
6g.152061005G>ACA366213743ESR1c.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
6g.152061005G>CCA366213744ESR1c.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
6g.152061005G>TCA366213742ESR1c.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
6g.152061006T>ACA366213745ESR1c.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
6g.152061006T>CCA452893326ESR1c.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
6g.152061006T>GCA366213746ESR1c.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
6g.152061007G>ACA366213747ESR1c.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
6g.152061007G>CCA366213748ESR1c.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
6g.152061007G>TCA366213749ESR1c.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
6g.152061008T>ACA366213750ESR1c.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
6g.152061008T>CCA366213751ESR1c.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
6g.152061008T>GCA366213752ESR1c.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
6g.152061009A>CCA452893327ESR1c.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
6g.152061009A>GCA452893328ESR1c.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
6g.152061009A>TCA452893329ESR1c.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
6g.152061010G>ACA366213755ESR1c.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
6g.152061010G>CCA366213753ESR1c.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
6g.152061010G>TCA366213754ESR1c.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
6g.152061011A>CCA366213756ESR1c.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
6g.152061011A>GCA366213757ESR1c.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
6g.152061011A>TCA366213758ESR1c.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
6g.152061012G>ACA452893330ESR1c.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
6g.152061012G>CCA366213759ESR1c.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
6g.152061012G=CA1673172566ESR1c.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=
6g.152061012G>TCA366213760ESR1c.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
6g.152061013G>ACA366213763ESR1c.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
6g.152061013G>CCA366213761ESR1c.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
6g.152061013G>TCA366213762ESR1c.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
6g.152061014G>ACA366213764ESR1c.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
6g.152061014G>CCA366213765ESR1c.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
6g.152061014G>TCA366213766ESR1c.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
6g.152061015C>ACA452893331ESR1c.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
6g.152061015C=CA1673172568ESR1c.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=
6g.152061015C>GCA452893332ESR1c.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
6g.152061015C>TCA452893333ESR1c.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
6g.152061016A=CA1673172570ESR1c.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=
6g.152061016A>CCA366213767ESR1c.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
6g.152061016A>GCA366213768ESR1c.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
6g.152061016A>TCA4052403ESR1c.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
6g.152061017T>ACA366213769ESR1c.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
6g.152061017T>CCA366213770ESR1c.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
6g.152061017T>GCA366213771ESR1c.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
6g.152061020_152061022delCA645542619ESR1c.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
6g.152061018G>ACA366213772ESR1c.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
6g.152061018G>CCA366213773ESR1c.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
6g.152061018G>TCA366213774ESR1c.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
6g.152061019G>ACA366213775ESR1c.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
6g.152061019G>CCA366213777ESR1c.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
6g.152061019G>TCA366213776ESR1c.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
6g.152061020T>ACA366213778ESR1c.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
6g.152061020T>CCA366213779ESR1c.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
6g.152061020T>GCA366213780ESR1c.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
6g.152061021G>ACA452893335ESR1c.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
6g.152061021G>CCA452893336ESR1c.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
6g.152061021G>TCA452893337ESR1c.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
6g.152061022G>ACA366213781ESR1c.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
6g.152061022G>CCA366213782ESR1c.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
6g.152061022G=CA1673172572ESR1c.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=
6g.152061022G>TCA366213783ESR1c.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
6g.152061023A>CCA366213784ESR1c.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
6g.152061023A>GCA366213785ESR1c.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
6g.152061023A>TCA366213786ESR1c.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
6g.152061024G>ACA452893338ESR1c.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
6g.152061024G>CCA366213787ESR1c.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
6g.152061024G>TCA366213788ESR1c.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
6g.152061025A>CCA366213791ESR1c.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
6g.152061025A>GCA366213790ESR1c.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
6g.152061025A>TCA366213789ESR1c.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
6g.152061026T>ACA366213792ESR1c.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
6g.152061026T>CCA366213793ESR1c.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
6g.152061026T>GCA366213794ESR1c.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
6g.152061027C>ACA452893339ESR1c.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
6g.152061027C>GCA366213795ESR1c.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
6g.152061027C>TCA452893340ESR1c.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
6g.152061028T>ACA366213796ESR1c.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
6g.152061028T>CCA366213797ESR1c.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
6g.152061028T>GCA366213798ESR1c.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
6g.152061029T>ACA366213799ESR1c.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
6g.152061029T>CCA366213800ESR1c.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
6g.152061029T>GCA366213801ESR1c.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
6g.152061030C>ACA366213802ESR1c.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
6g.152061030C=CA1673172573ESR1c.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=
6g.152061030C>GCA366213803ESR1c.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
6g.152061030C>TCA452893341ESR1c.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
6g.152061031G>ACA4052404ESR1c.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
6g.152061031G>CCA366213805ESR1c.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
6g.152061031G=CA1673172576ESR1c.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=
6g.152061031G>TCA366213804ESR1c.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
6g.152061032A>CCA366213806ESR1c.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
6g.152061032A>GCA366213807ESR1c.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
6g.152061032A>TCA366213808ESR1c.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
6g.152061033C>ACA366213809ESR1c.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
6g.152061033C>GCA366213810ESR1c.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
6g.152061033C>TCA452893342ESR1c.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
6g.152061034A>CCA366213811ESR1c.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
6g.152061034A>GCA366213812ESR1c.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
6g.152061034A>TCA366213813ESR1c.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
6g.152061035T>ACA366213814ESR1c.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
6g.152061035T>CCA366213815ESR1c.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
6g.152061035T>GCA366213816ESR1c.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
6g.152061036G>ACA366213817ESR1c.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
6g.152061036G>CCA366213818ESR1c.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
6g.152061036G>TCA366213819ESR1c.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
6g.152061037C>ACA366213821ESR1c.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
6g.152061037C>GCA366213820ESR1c.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
6g.152061037C>TCA452893343ESR1c.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
6g.152061038T>ACA366213822ESR1c.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
6g.152061038T>CCA366213823ESR1c.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
6g.152061038T>GCA366213824ESR1c.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
6g.152061039G>ACA452893344ESR1c.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
6g.152061039G>CCA452893346ESR1c.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
6g.152061039G=CA1673172578ESR1c.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=
6g.152061039G>TCA452893345ESR1c.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
6g.152061040C>ACA366213825ESR1c.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
6g.152061040C>GCA366213826ESR1c.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
6g.152061040C>TCA452893347ESR1c.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
6g.152061041T>ACA366213829ESR1c.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
6g.152061041T>CCA366213828ESR1c.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
6g.152061041T>GCA366213827ESR1c.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
6g.152061042G>ACA452893348ESR1c.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
6g.152061042G>CCA452893349ESR1c.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
6g.152061042G>TCA452893350ESR1c.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
6g.152061043delCA2713477685ESR1c.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
6g.152061043G>ACA366213830ESR1c.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
6g.152061043G>CCA366213831ESR1c.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
6g.152061043G>TCA366213832ESR1c.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
6g.152061044C>ACA366213833ESR1c.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
6g.152061044C>GCA366213834ESR1c.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
6g.152061044C>TCA366213835ESR1c.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
6g.152061045T>ACA452893351ESR1c.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
6g.152061045T>CCA452893352ESR1c.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
6g.152061045T>GCA452893353ESR1c.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
6g.152061046A=CA1673172580ESR1c.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=
6g.152061046A>CCA366213836ESR1c.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
6g.152061046A>GCA366213838ESR1c.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
6g.152061046A>TCA366213837ESR1c.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
6g.152061047C>ACA366213839ESR1c.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
6g.152061047C=CA1673172582ESR1c.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=
6g.152061047C>GCA366213840ESR1c.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
6g.152061047C>TCA150439564ESR1c.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
6g.152061048A=CA1673172585ESR1c.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=
6g.152061048A>CCA452893354ESR1c.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
6g.152061048A>GCA452893355ESR1c.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
6g.152061048A>TCA452893356ESR1c.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
6g.152061049T>ACA366213841ESR1c.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
6g.152061049T>CCA366213842ESR1c.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
6g.152061049T>GCA366213843ESR1c.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
6g.152061049T=CA1673172587ESR1c.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=
6g.152061050C>ACA366213844ESR1c.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
6g.152061050C>GCA366213845ESR1c.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
6g.152061050C>TCA366213846ESR1c.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
6g.152061051A=CA1673172589ESR1c.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=
6g.152061051A>CCA452893357ESR1c.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
6g.152061051A>GCA4052405ESR1c.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
6g.152061051A>TCA452893358ESR1c.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
6g.152061052T>ACA366213847ESR1c.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
6g.152061052T>CCA366213848ESR1c.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
6g.152061052T>GCA366213849ESR1c.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
6g.152061053C>ACA366213850ESR1c.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
6g.152061053C=CA1673172592ESR1c.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=
6g.152061053C>GCA366213852ESR1c.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
6g.152061053C>TCA366213851ESR1c.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
6g.152061054T>ACA452893359ESR1c.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
6g.152061054T>CCA452893360ESR1c.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
6g.152061054T>GCA452893361ESR1c.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
6g.152061055C>ACA452893362ESR1c.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
6g.152061055C=CA1673172594ESR1c.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=
6g.152061055C>GCA366213853ESR1c.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
6g.152061055C>TCA4052406ESR1c.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
6g.152061056G>ACA366213854ESR1c.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
6g.152061056G>CCA366213855ESR1c.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
6g.152061056G=CA1673172598ESR1c.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=
6g.152061056G>TCA366213856ESR1c.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
6g.152061057G>ACA452893363ESR1c.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
6g.152061057G>CCA452893364ESR1c.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
6g.152061057G>TCA452893365ESR1c.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
6g.152061058T>ACA366213857ESR1c.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
6g.152061058T>CCA366213858ESR1c.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
6g.152061058T>GCA366213859ESR1c.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
6g.152061059T>ACA366213860ESR1c.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
6g.152061059T>CCA366213861ESR1c.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
6g.152061059T>GCA366213862ESR1c.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
6g.152061060C>ACA366213863ESR1c.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
6g.152061060C>GCA366213864ESR1c.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
6g.152061060C>TCA452893366ESR1c.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
6g.152061061C>ACA366213865ESR1c.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
6g.152061061C=CA1673172603ESR1c.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=
6g.152061061C>GCA366213866ESR1c.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
6g.152061061C>TCA4052407ESR1c.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
6g.152061062G>ACA4052408ESR1c.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
6g.152061062G>CCA366213867ESR1c.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
6g.152061062G=CA1673172607ESR1c.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=
6g.152061062G>TCA366213868ESR1c.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
6g.152061063C>ACA452893367ESR1c.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
6g.152061063C>GCA452893368ESR1c.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
6g.152061063C>TCA452893369ESR1c.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
6g.152061064A=CA1673172609ESR1c.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=
6g.152061064A>CCA366213869ESR1c.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
6g.152061064A>GCA366213870ESR1c.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
6g.152061064A>TCA366213871ESR1c.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
6g.152061065T>ACA366213874ESR1c.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
6g.152061065T>CCA366213873ESR1c.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
6g.152061065T>GCA366213872ESR1c.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
6g.152061066G>ACA4052409ESR1c.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
6g.152061066G>CCA366213875ESR1c.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
6g.152061066G=CA1673172611ESR1c.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=
6g.152061066G>TCA366213876ESR1c.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
6g.152061067A>CCA366213877ESR1c.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
6g.152061067A>GCA366213878ESR1c.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
6g.152061067A>TCA366213879ESR1c.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
6g.152061068T>ACA366213882ESR1c.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
6g.152061068T>CCA366213880ESR1c.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
6g.152061068T>GCA366213881ESR1c.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
6g.152061068T=CA1673172614ESR1c.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=
6g.152061069G>ACA366213883ESR1c.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
6g.152061069G>CCA366213884ESR1c.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
6g.152061069G>TCA366213885ESR1c.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
6g.152061070A>CCA366213886ESR1c.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
6g.152061070A>GCA366213887ESR1c.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
6g.152061070A>TCA366213888ESR1c.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
6g.152061071A=CA1673172616ESR1c.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=
6g.152061071A>CCA366213889ESR1c.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
6g.152061071A>GCA150439565ESR1c.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
6g.152061071A>TCA366213890ESR1c.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
6g.152061072T>ACA366213891ESR1c.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
6g.152061072T>CCA452893370ESR1c.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
6g.152061072T>GCA366213892ESR1c.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
6g.152061073C>ACA366213893ESR1c.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
6g.152061073C>GCA366213894ESR1c.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
6g.152061073C>TCA452893371ESR1c.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
6g.152061074T>ACA366213895ESR1c.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
6g.152061074T>CCA366213897ESR1c.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
6g.152061074T>GCA366213896ESR1c.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
6g.152061075G>ACA4052410ESR1c.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
6g.152061075G>CCA150439566ESR1c.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
6g.152061075G=CA1673172618ESR1c.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=
6g.152061075G>TCA452893372ESR1c.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
6g.152061076C>ACA366213898ESR1c.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
6g.152061076C>GCA366213899ESR1c.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
6g.152061076C>TCA366213900ESR1c.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
6g.152061077A>CCA366213901ESR1c.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
6g.152061077A>GCA366213902ESR1c.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
6g.152061077A>TCA366213903ESR1c.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
6g.152061078G>ACA452893373ESR1c.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
6g.152061078G>CCA366213904ESR1c.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
6g.152061078G=CA1673172621ESR1c.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=
6g.152061078G>TCA366213905ESR1c.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
6g.152061079G>ACA366213906ESR1c.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
6g.152061079G>CCA366213907ESR1c.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
6g.152061079G>TCA366213908ESR1c.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
6g.152061080G>ACA366213911ESR1c.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
6g.152061080G>CCA366213909ESR1c.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
6g.152061080G>TCA366213910ESR1c.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
6g.152061081A>CCA452893376ESR1c.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
6g.152061081A>GCA452893374ESR1c.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
6g.152061081A>TCA452893375ESR1c.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
6g.152061082G>ACA366213912ESR1c.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
6g.152061082G>CCA366213913ESR1c.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
6g.152061082G>TCA366213914ESR1c.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
6g.152061083A>CCA366213915ESR1c.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
6g.152061083A>GCA366213916ESR1c.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
6g.152061083A>TCA366213917ESR1c.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
6g.152061084G>ACA452893377ESR1c.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
6g.152061084G>CCA366213918ESR1c.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
6g.152061084G>TCA366213919ESR1c.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
6g.152061085G>ACA366213920ESR1c.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
6g.152061085G>CCA366213921ESR1c.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
6g.152061085G>TCA366213922ESR1c.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
6g.152061086A>CCA366213923ESR1c.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
6g.152061086A>GCA366213925ESR1c.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
6g.152061086A>TCA366213924ESR1c.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
6g.152061087G>ACA452893378ESR1c.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
6g.152061087G>CCA366213926ESR1c.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
6g.152061087G>TCA366213927ESR1c.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
6g.152061088T>ACA366213928ESR1c.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
6g.152061088T>CCA366213929ESR1c.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
6g.152061088T>GCA366213930ESR1c.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
6g.152061088T=CA1673172623ESR1c.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=
6g.152061089T>ACA366213931ESR1c.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
6g.152061089T>CCA366213932ESR1c.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
6g.152061089T>GCA366213933ESR1c.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
6g.152061090T>ACA366213934ESR1c.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
6g.152061090T>CCA452893379ESR1c.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
6g.152061090T>GCA366213935ESR1c.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
6g.152061091G>ACA366213936ESR1c.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
6g.152061091G>CCA366213937ESR1c.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
6g.152061091G>TCA366213938ESR1c.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
6g.152061092T>ACA366213941ESR1c.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
6g.152061092T>CCA366213940ESR1c.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
6g.152061092T>GCA366213939ESR1c.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
6g.152061093G>ACA452893380ESR1c.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
6g.152061093G>CCA452893381ESR1c.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
6g.152061093G=CA1673172625ESR1c.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=
6g.152061093G>TCA452893382ESR1c.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
6g.152061094T>ACA366213942ESR1c.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
6g.152061094T>CCA366213943ESR1c.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
6g.152061094T>GCA366213944ESR1c.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
6g.152061094_152061095delinsGCCA126692ESR1c.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
6g.152061094_152061095delinsTGCA1673172629ESR1c.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

Number of alleles fetched