| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152060994C>A | CA366213715 | ESR1 | c.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 |
| 6 | g.152060994C= | CA1673172561 | ESR1 | c.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= | |
| 6 | g.152060994C>G | CA366213716 | ESR1 | c.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 |
| 6 | g.152060994C>T | CA452893320 | ESR1 | c.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 |
| 6 | g.152060995C>A | CA366213717 | ESR1 | c.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 | |
| 6 | g.152060995C>G | CA366213718 | ESR1 | c.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 |
| 6 | g.152060995C>T | CA366213719 | ESR1 | c.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 |
| 6 | g.152060996A>C | CA366213720 | ESR1 | c.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 | |
| 6 | g.152060996A>G | CA366213721 | ESR1 | c.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 | |
| 6 | g.152060996A>T | CA366213722 | ESR1 | c.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 |
| 6 | g.152060997G>A | CA452893321 | ESR1 | c.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 |
| 6 | g.152060997G>C | CA366213723 | ESR1 | c.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 |
| 6 | g.152060997G>T | CA366213724 | ESR1 | c.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 |
| 6 | g.152060999del | CA2713475249 | ESR1 | c.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 |
| 6 | g.152060998G>A | CA366213726 | ESR1 | c.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 |
| 6 | g.152060998G>C | CA366213727 | ESR1 | c.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 |
| 6 | g.152060998G>T | CA366213725 | ESR1 | c.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 |
| 6 | g.152060999_152061007del | CA645542618 | ESR1 | c.1244_1252del (p.Gly415_Cys417del) c.43-33480_43-33472del (n.43-33480_43-33472del) n.572_580del c.461_469del (p.Gly154_Cys156del) c.263_271del (p.Gly88_Cys90del) c.725_733del (p.Gly242_Cys244del) c.*119_*127del (n.*119_*127del) c.1250_1258del (p.Gly417_Cys419del) c.1241_1249del (p.Gly414_Cys416del) c.515_523del (p.Gly172_Cys174del) c.587_595del (p.Gly196_Cys198del) c.455_463del (p.Gly152_Cys154del) n.1475_1483del | COSMIC |
| 6 | g.152060999G>A | CA366213728 | ESR1 | c.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 |
| 6 | g.152060999G>C | CA366213729 | ESR1 | c.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 |
| 6 | g.152060999G>T | CA366213730 | ESR1 | c.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 | |
| 6 | g.152061000A>C | CA452893322 | ESR1 | c.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 | |
| 6 | g.152061000A>G | CA452893323 | ESR1 | c.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 |
| 6 | g.152061000A>T | CA452893324 | ESR1 | c.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 | |
| 6 | g.152061003del | CA2578772907 | ESR1 | c.1248del (p.Lys416AsnfsTer3) c.43-33476del (n.43-33476del) n.576del c.465del (p.Lys155AsnfsTer3) c.267del (p.Lys89AsnfsTer3) c.729del (p.Lys243AsnfsTer3) c.*123del (n.*123del) c.1254del (p.Lys418AsnfsTer3) c.1245del (p.Lys415AsnfsTer3) c.519del (p.Lys173AsnfsTer3) c.591del (p.Lys197AsnfsTer3) c.459del (p.Lys153AsnfsTer3) n.1479del | gnomAD v4 |
| 6 | g.152061001A>C | CA366213731 | ESR1 | c.1246A>C (p.Lys416Gln) c.43-33478A>C (n.43-33478A>C) n.574A>C c.463A>C (p.Lys155Gln) c.265A>C (p.Lys89Gln) c.727A>C (p.Lys243Gln) c.*121A>C (n.*121A>C) c.1252A>C (p.Lys418Gln) c.1243A>C (p.Lys415Gln) c.517A>C (p.Lys173Gln) c.589A>C (p.Lys197Gln) c.457A>C (p.Lys153Gln) n.1477A>C | |
| 6 | g.152061001A>G | CA366213732 | ESR1 | c.1246A>G (p.Lys416Glu) c.43-33478A>G (n.43-33478A>G) n.574A>G c.463A>G (p.Lys155Glu) c.265A>G (p.Lys89Glu) c.727A>G (p.Lys243Glu) c.*121A>G (n.*121A>G) c.1252A>G (p.Lys418Glu) c.1243A>G (p.Lys415Glu) c.517A>G (p.Lys173Glu) c.589A>G (p.Lys197Glu) c.457A>G (p.Lys153Glu) n.1477A>G | |
| 6 | g.152061001A>T | CA366213733 | ESR1 | c.1246A>T (p.Lys416Ter) c.43-33478A>T (n.43-33478A>T) n.574A>T c.463A>T (p.Lys155Ter) c.265A>T (p.Lys89Ter) c.727A>T (p.Lys243Ter) c.*121A>T (n.*121A>T) c.1252A>T (p.Lys418Ter) c.1243A>T (p.Lys415Ter) c.517A>T (p.Lys173Ter) c.589A>T (p.Lys197Ter) c.457A>T (p.Lys153Ter) n.1477A>T | dbSNP |
| 6 | g.152061002A>C | CA366213734 | ESR1 | c.1247A>C (p.Lys416Thr) c.43-33477A>C (n.43-33477A>C) n.575A>C c.464A>C (p.Lys155Thr) c.266A>C (p.Lys89Thr) c.728A>C (p.Lys243Thr) c.*122A>C (n.*122A>C) c.1253A>C (p.Lys418Thr) c.1244A>C (p.Lys415Thr) c.518A>C (p.Lys173Thr) c.590A>C (p.Lys197Thr) c.458A>C (p.Lys153Thr) n.1478A>C | |
| 6 | g.152061002A>G | CA366213736 | ESR1 | c.1247A>G (p.Lys416Arg) c.43-33477A>G (n.43-33477A>G) n.575A>G c.464A>G (p.Lys155Arg) c.266A>G (p.Lys89Arg) c.728A>G (p.Lys243Arg) c.*122A>G (n.*122A>G) c.1253A>G (p.Lys418Arg) c.1244A>G (p.Lys415Arg) c.518A>G (p.Lys173Arg) c.590A>G (p.Lys197Arg) c.458A>G (p.Lys153Arg) n.1478A>G | |
| 6 | g.152061002A>T | CA366213735 | ESR1 | c.1247A>T (p.Lys416Ile) c.43-33477A>T (n.43-33477A>T) n.575A>T c.464A>T (p.Lys155Ile) c.266A>T (p.Lys89Ile) c.728A>T (p.Lys243Ile) c.*122A>T (n.*122A>T) c.1253A>T (p.Lys418Ile) c.1244A>T (p.Lys415Ile) c.518A>T (p.Lys173Ile) c.590A>T (p.Lys197Ile) c.458A>T (p.Lys153Ile) n.1478A>T | |
| 6 | g.152061003A= | CA1673172563 | ESR1 | c.1248A= (p.Lys416=) c.43-33476A= (n.43-33476A=) n.576A= c.465A= (p.Lys155=) c.267A= (p.Lys89=) c.729A= (p.Lys243=) c.*123A= (n.*123A=) c.1254A= (p.Lys418=) c.1245A= (p.Lys415=) c.519A= (p.Lys173=) c.591A= (p.Lys197=) c.459A= (p.Lys153=) n.1479A= | |
| 6 | g.152061003A>C | CA366213737 | ESR1 | c.1248A>C (p.Lys416Asn) c.43-33476A>C (n.43-33476A>C) n.576A>C c.465A>C (p.Lys155Asn) c.267A>C (p.Lys89Asn) c.729A>C (p.Lys243Asn) c.*123A>C (n.*123A>C) c.1254A>C (p.Lys418Asn) c.1245A>C (p.Lys415Asn) c.519A>C (p.Lys173Asn) c.591A>C (p.Lys197Asn) c.459A>C (p.Lys153Asn) n.1479A>C | gnomAD v4 COSMIC |
| 6 | g.152061003A>G | CA452893325 | ESR1 | c.1248A>G (p.Lys416=) c.43-33476A>G (n.43-33476A>G) n.576A>G c.465A>G (p.Lys155=) c.267A>G (p.Lys89=) c.729A>G (p.Lys243=) c.*123A>G (n.*123A>G) c.1254A>G (p.Lys418=) c.1245A>G (p.Lys415=) c.519A>G (p.Lys173=) c.591A>G (p.Lys197=) c.459A>G (p.Lys153=) n.1479A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152061003A>T | CA366213738 | ESR1 | c.1248A>T (p.Lys416Asn) c.43-33476A>T (n.43-33476A>T) n.576A>T c.465A>T (p.Lys155Asn) c.267A>T (p.Lys89Asn) c.729A>T (p.Lys243Asn) c.*123A>T (n.*123A>T) c.1254A>T (p.Lys418Asn) c.1245A>T (p.Lys415Asn) c.519A>T (p.Lys173Asn) c.591A>T (p.Lys197Asn) c.459A>T (p.Lys153Asn) n.1479A>T | |
| 6 | g.152061004T>A | CA366213739 | ESR1 | c.1249T>A (p.Cys417Ser) c.43-33475T>A (n.43-33475T>A) n.577T>A c.466T>A (p.Cys156Ser) c.268T>A (p.Cys90Ser) c.730T>A (p.Cys244Ser) c.*124T>A (n.*124T>A) c.1255T>A (p.Cys419Ser) c.1246T>A (p.Cys416Ser) c.520T>A (p.Cys174Ser) c.592T>A (p.Cys198Ser) c.460T>A (p.Cys154Ser) n.1480T>A | |
| 6 | g.152061004T>C | CA366213740 | ESR1 | c.1249T>C (p.Cys417Arg) c.43-33475T>C (n.43-33475T>C) n.577T>C c.466T>C (p.Cys156Arg) c.268T>C (p.Cys90Arg) c.730T>C (p.Cys244Arg) c.*124T>C (n.*124T>C) c.1255T>C (p.Cys419Arg) c.1246T>C (p.Cys416Arg) c.520T>C (p.Cys174Arg) c.592T>C (p.Cys198Arg) c.460T>C (p.Cys154Arg) n.1480T>C | |
| 6 | g.152061004T>G | CA366213741 | ESR1 | c.1249T>G (p.Cys417Gly) c.43-33475T>G (n.43-33475T>G) n.577T>G c.466T>G (p.Cys156Gly) c.268T>G (p.Cys90Gly) c.730T>G (p.Cys244Gly) c.*124T>G (n.*124T>G) c.1255T>G (p.Cys419Gly) c.1246T>G (p.Cys416Gly) c.520T>G (p.Cys174Gly) c.592T>G (p.Cys198Gly) c.460T>G (p.Cys154Gly) n.1480T>G | |
| 6 | g.152061005G>A | CA366213743 | ESR1 | c.1250G>A (p.Cys417Tyr) c.43-33474G>A (n.43-33474G>A) n.578G>A c.467G>A (p.Cys156Tyr) c.269G>A (p.Cys90Tyr) c.731G>A (p.Cys244Tyr) c.*125G>A (n.*125G>A) c.1256G>A (p.Cys419Tyr) c.1247G>A (p.Cys416Tyr) c.521G>A (p.Cys174Tyr) c.593G>A (p.Cys198Tyr) c.461G>A (p.Cys154Tyr) n.1481G>A | dbSNP |
| 6 | g.152061005G>C | CA366213744 | ESR1 | c.1250G>C (p.Cys417Ser) c.43-33474G>C (n.43-33474G>C) n.578G>C c.467G>C (p.Cys156Ser) c.269G>C (p.Cys90Ser) c.731G>C (p.Cys244Ser) c.*125G>C (n.*125G>C) c.1256G>C (p.Cys419Ser) c.1247G>C (p.Cys416Ser) c.521G>C (p.Cys174Ser) c.593G>C (p.Cys198Ser) c.461G>C (p.Cys154Ser) n.1481G>C | dbSNP |
| 6 | g.152061005G>T | CA366213742 | ESR1 | c.1250G>T (p.Cys417Phe) c.43-33474G>T (n.43-33474G>T) n.578G>T c.467G>T (p.Cys156Phe) c.269G>T (p.Cys90Phe) c.731G>T (p.Cys244Phe) c.*125G>T (n.*125G>T) c.1256G>T (p.Cys419Phe) c.1247G>T (p.Cys416Phe) c.521G>T (p.Cys174Phe) c.593G>T (p.Cys198Phe) c.461G>T (p.Cys154Phe) n.1481G>T | |
| 6 | g.152061006T>A | CA366213745 | ESR1 | c.1251T>A (p.Cys417Ter) c.43-33473T>A (n.43-33473T>A) n.579T>A c.468T>A (p.Cys156Ter) c.270T>A (p.Cys90Ter) c.732T>A (p.Cys244Ter) c.*126T>A (n.*126T>A) c.1257T>A (p.Cys419Ter) c.1248T>A (p.Cys416Ter) c.522T>A (p.Cys174Ter) c.594T>A (p.Cys198Ter) c.462T>A (p.Cys154Ter) n.1482T>A | |
| 6 | g.152061006T>C | CA452893326 | ESR1 | c.1251T>C (p.Cys417=) c.43-33473T>C (n.43-33473T>C) n.579T>C c.468T>C (p.Cys156=) c.270T>C (p.Cys90=) c.732T>C (p.Cys244=) c.*126T>C (n.*126T>C) c.1257T>C (p.Cys419=) c.1248T>C (p.Cys416=) c.522T>C (p.Cys174=) c.594T>C (p.Cys198=) c.462T>C (p.Cys154=) n.1482T>C | gnomAD v4 |
| 6 | g.152061006T>G | CA366213746 | ESR1 | c.1251T>G (p.Cys417Trp) c.43-33473T>G (n.43-33473T>G) n.579T>G c.468T>G (p.Cys156Trp) c.270T>G (p.Cys90Trp) c.732T>G (p.Cys244Trp) c.*126T>G (n.*126T>G) c.1257T>G (p.Cys419Trp) c.1248T>G (p.Cys416Trp) c.522T>G (p.Cys174Trp) c.594T>G (p.Cys198Trp) c.462T>G (p.Cys154Trp) n.1482T>G | |
| 6 | g.152061007G>A | CA366213747 | ESR1 | c.1252G>A (p.Val418Ile) c.43-33472G>A (n.43-33472G>A) n.580G>A c.469G>A (p.Val157Ile) c.271G>A (p.Val91Ile) c.733G>A (p.Val245Ile) c.*127G>A (n.*127G>A) c.1258G>A (p.Val420Ile) c.1249G>A (p.Val417Ile) c.523G>A (p.Val175Ile) c.595G>A (p.Val199Ile) c.463G>A (p.Val155Ile) n.1483G>A | dbSNP |
| 6 | g.152061007G>C | CA366213748 | ESR1 | c.1252G>C (p.Val418Leu) c.43-33472G>C (n.43-33472G>C) n.580G>C c.469G>C (p.Val157Leu) c.271G>C (p.Val91Leu) c.733G>C (p.Val245Leu) c.*127G>C (n.*127G>C) c.1258G>C (p.Val420Leu) c.1249G>C (p.Val417Leu) c.523G>C (p.Val175Leu) c.595G>C (p.Val199Leu) c.463G>C (p.Val155Leu) n.1483G>C | dbSNP |
| 6 | g.152061007G>T | CA366213749 | ESR1 | c.1252G>T (p.Val418Leu) c.43-33472G>T (n.43-33472G>T) n.580G>T c.469G>T (p.Val157Leu) c.271G>T (p.Val91Leu) c.733G>T (p.Val245Leu) c.*127G>T (n.*127G>T) c.1258G>T (p.Val420Leu) c.1249G>T (p.Val417Leu) c.523G>T (p.Val175Leu) c.595G>T (p.Val199Leu) c.463G>T (p.Val155Leu) n.1483G>T | |
| 6 | g.152061008T>A | CA366213750 | ESR1 | c.1253T>A (p.Val418Glu) c.43-33471T>A (n.43-33471T>A) n.581T>A c.470T>A (p.Val157Glu) c.272T>A (p.Val91Glu) c.734T>A (p.Val245Glu) c.*128T>A (n.*128T>A) c.1259T>A (p.Val420Glu) c.1250T>A (p.Val417Glu) c.524T>A (p.Val175Glu) c.596T>A (p.Val199Glu) c.464T>A (p.Val155Glu) n.1484T>A | |
| 6 | g.152061008T>C | CA366213751 | ESR1 | c.1253T>C (p.Val418Ala) c.43-33471T>C (n.43-33471T>C) n.581T>C c.470T>C (p.Val157Ala) c.272T>C (p.Val91Ala) c.734T>C (p.Val245Ala) c.*128T>C (n.*128T>C) c.1259T>C (p.Val420Ala) c.1250T>C (p.Val417Ala) c.524T>C (p.Val175Ala) c.596T>C (p.Val199Ala) c.464T>C (p.Val155Ala) n.1484T>C | |
| 6 | g.152061008T>G | CA366213752 | ESR1 | c.1253T>G (p.Val418Gly) c.43-33471T>G (n.43-33471T>G) n.581T>G c.470T>G (p.Val157Gly) c.272T>G (p.Val91Gly) c.734T>G (p.Val245Gly) c.*128T>G (n.*128T>G) c.1259T>G (p.Val420Gly) c.1250T>G (p.Val417Gly) c.524T>G (p.Val175Gly) c.596T>G (p.Val199Gly) c.464T>G (p.Val155Gly) n.1484T>G |