UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152098866C>A | CA366085852 | ESR1 | c.1688C>A (p.Thr563Lys) n.1016C>A c.905C>A (p.Thr302Lys) c.851-26400C>A (n.851-26400C>A) c.*563C>A (n.*563C>A) c.1694C>A (p.Thr565Lys) c.1685C>A (p.Thr562Lys) c.*103C>A (n.*103C>A) c.1169C>A (p.Thr390Lys) c.959C>A (p.Thr320Lys) c.1031C>A (p.Thr344Lys) c.899C>A (p.Thr300Lys) n.1735C>A | dbSNP |
| 6 | g.152098866C= | CA1673175447 | ESR1 | c.1688C= (p.Thr563=) n.1016C= c.905C= (p.Thr302=) c.851-26400C= (n.851-26400C=) c.*563C= (n.*563C=) c.1694C= (p.Thr565=) c.1685C= (p.Thr562=) c.*103C= (n.*103C=) c.1169C= (p.Thr390=) c.959C= (p.Thr320=) c.1031C= (p.Thr344=) c.899C= (p.Thr300=) n.1735C= | |
| 6 | g.152098866C>G | CA366085853 | ESR1 | c.1688C>G (p.Thr563Arg) n.1016C>G c.905C>G (p.Thr302Arg) c.851-26400C>G (n.851-26400C>G) c.*563C>G (n.*563C>G) c.1694C>G (p.Thr565Arg) c.1685C>G (p.Thr562Arg) c.*103C>G (n.*103C>G) c.1169C>G (p.Thr390Arg) c.959C>G (p.Thr320Arg) c.1031C>G (p.Thr344Arg) c.899C>G (p.Thr300Arg) n.1735C>G | dbSNP |
| 6 | g.152098866C>T | CA4052523 | ESR1 | c.1688C>T (p.Thr563Met) n.1016C>T c.905C>T (p.Thr302Met) c.851-26400C>T (n.851-26400C>T) c.*563C>T (n.*563C>T) c.1694C>T (p.Thr565Met) c.1685C>T (p.Thr562Met) c.*103C>T (n.*103C>T) c.1169C>T (p.Thr390Met) c.959C>T (p.Thr320Met) c.1031C>T (p.Thr344Met) c.899C>T (p.Thr300Met) n.1735C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.152098867G>A | CA4052524 | ESR1 | c.1689G>A (p.Thr563=) n.1017G>A c.906G>A (p.Thr302=) c.851-26399G>A (n.851-26399G>A) c.*564G>A (n.*564G>A) c.1695G>A (p.Thr565=) c.1686G>A (p.Thr562=) c.*104G>A (n.*104G>A) c.1170G>A (p.Thr390=) c.960G>A (p.Thr320=) c.1032G>A (p.Thr344=) c.900G>A (p.Thr300=) n.1736G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152098867G>C | CA452746618 | ESR1 | c.1689G>C (p.Thr563=) n.1017G>C c.906G>C (p.Thr302=) c.851-26399G>C (n.851-26399G>C) c.*564G>C (n.*564G>C) c.1695G>C (p.Thr565=) c.1686G>C (p.Thr562=) c.*104G>C (n.*104G>C) c.1170G>C (p.Thr390=) c.960G>C (p.Thr320=) c.1032G>C (p.Thr344=) c.900G>C (p.Thr300=) n.1736G>C | dbSNP |
| 6 | g.152098867G= | CA1673175450 | ESR1 | c.1689G= (p.Thr563=) n.1017G= c.906G= (p.Thr302=) c.851-26399G= (n.851-26399G=) c.*564G= (n.*564G=) c.1695G= (p.Thr565=) c.1686G= (p.Thr562=) c.*104G= (n.*104G=) c.1170G= (p.Thr390=) c.960G= (p.Thr320=) c.1032G= (p.Thr344=) c.900G= (p.Thr300=) n.1736G= | |
| 6 | g.152098867G>T | CA452746619 | ESR1 | c.1689G>T (p.Thr563=) n.1017G>T c.906G>T (p.Thr302=) c.851-26399G>T (n.851-26399G>T) c.*564G>T (n.*564G>T) c.1695G>T (p.Thr565=) c.1686G>T (p.Thr562=) c.*104G>T (n.*104G>T) c.1170G>T (p.Thr390=) c.960G>T (p.Thr320=) c.1032G>T (p.Thr344=) c.900G>T (p.Thr300=) n.1736G>T | dbSNP |
| 6 | g.152098868G>A | CA150173889 | ESR1 | c.1690G>A (p.Asp564Asn) n.1018G>A c.907G>A (p.Asp303Asn) c.851-26398G>A (n.851-26398G>A) c.*565G>A (n.*565G>A) c.1696G>A (p.Asp566Asn) c.1687G>A (p.Asp563Asn) c.*105G>A (n.*105G>A) c.1171G>A (p.Asp391Asn) c.961G>A (p.Asp321Asn) c.1033G>A (p.Asp345Asn) c.901G>A (p.Asp301Asn) n.1737G>A | dbSNP gnomAD v4 |
| 6 | g.152098868G>C | CA366085854 | ESR1 | c.1690G>C (p.Asp564His) n.1018G>C c.907G>C (p.Asp303His) c.851-26398G>C (n.851-26398G>C) c.*565G>C (n.*565G>C) c.1696G>C (p.Asp566His) c.1687G>C (p.Asp563His) c.*105G>C (n.*105G>C) c.1171G>C (p.Asp391His) c.961G>C (p.Asp321His) c.1033G>C (p.Asp345His) c.901G>C (p.Asp301His) n.1737G>C | dbSNP |
| 6 | g.152098868G= | CA1673175454 | ESR1 | c.1690G= (p.Asp564=) n.1018G= c.907G= (p.Asp303=) c.851-26398G= (n.851-26398G=) c.*565G= (n.*565G=) c.1696G= (p.Asp566=) c.1687G= (p.Asp563=) c.*105G= (n.*105G=) c.1171G= (p.Asp391=) c.961G= (p.Asp321=) c.1033G= (p.Asp345=) c.901G= (p.Asp301=) n.1737G= | |
| 6 | g.152098868G>T | CA4052525 | ESR1 | c.1690G>T (p.Asp564Tyr) n.1018G>T c.907G>T (p.Asp303Tyr) c.851-26398G>T (n.851-26398G>T) c.*565G>T (n.*565G>T) c.1696G>T (p.Asp566Tyr) c.1687G>T (p.Asp563Tyr) c.*105G>T (n.*105G>T) c.1171G>T (p.Asp391Tyr) c.961G>T (p.Asp321Tyr) c.1033G>T (p.Asp345Tyr) c.901G>T (p.Asp301Tyr) n.1737G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152098869A>C | CA366085855 | ESR1 | c.1691A>C (p.Asp564Ala) n.1019A>C c.908A>C (p.Asp303Ala) c.851-26397A>C (n.851-26397A>C) c.*566A>C (n.*566A>C) c.1697A>C (p.Asp566Ala) c.1688A>C (p.Asp563Ala) c.*106A>C (n.*106A>C) c.1172A>C (p.Asp391Ala) c.962A>C (p.Asp321Ala) c.1034A>C (p.Asp345Ala) c.902A>C (p.Asp301Ala) n.1738A>C | dbSNP |
| 6 | g.152098869A>G | CA366085856 | ESR1 | c.1691A>G (p.Asp564Gly) n.1019A>G c.908A>G (p.Asp303Gly) c.851-26397A>G (n.851-26397A>G) c.*566A>G (n.*566A>G) c.1697A>G (p.Asp566Gly) c.1688A>G (p.Asp563Gly) c.*106A>G (n.*106A>G) c.1172A>G (p.Asp391Gly) c.962A>G (p.Asp321Gly) c.1034A>G (p.Asp345Gly) c.902A>G (p.Asp301Gly) n.1738A>G | |
| 6 | g.152098869A>T | CA366085857 | ESR1 | c.1691A>T (p.Asp564Val) n.1019A>T c.908A>T (p.Asp303Val) c.851-26397A>T (n.851-26397A>T) c.*566A>T (n.*566A>T) c.1697A>T (p.Asp566Val) c.1688A>T (p.Asp563Val) c.*106A>T (n.*106A>T) c.1172A>T (p.Asp391Val) c.962A>T (p.Asp321Val) c.1034A>T (p.Asp345Val) c.902A>T (p.Asp301Val) n.1738A>T | |
| 6 | g.152098870C>A | CA366085858 | ESR1 | c.1692C>A (p.Asp564Glu) n.1020C>A c.909C>A (p.Asp303Glu) c.851-26396C>A (n.851-26396C>A) c.*567C>A (n.*567C>A) c.1698C>A (p.Asp566Glu) c.1689C>A (p.Asp563Glu) c.*107C>A (n.*107C>A) c.1173C>A (p.Asp391Glu) c.963C>A (p.Asp321Glu) c.1035C>A (p.Asp345Glu) c.903C>A (p.Asp301Glu) n.1739C>A | dbSNP |
| 6 | g.152098870C>G | CA366085859 | ESR1 | c.1692C>G (p.Asp564Glu) n.1020C>G c.909C>G (p.Asp303Glu) c.851-26396C>G (n.851-26396C>G) c.*567C>G (n.*567C>G) c.1698C>G (p.Asp566Glu) c.1689C>G (p.Asp563Glu) c.*107C>G (n.*107C>G) c.1173C>G (p.Asp391Glu) c.963C>G (p.Asp321Glu) c.1035C>G (p.Asp345Glu) c.903C>G (p.Asp301Glu) n.1739C>G | dbSNP |
| 6 | g.152098870C>T | CA452746620 | ESR1 | c.1692C>T (p.Asp564=) n.1020C>T c.909C>T (p.Asp303=) c.851-26396C>T (n.851-26396C>T) c.*567C>T (n.*567C>T) c.1698C>T (p.Asp566=) c.1689C>T (p.Asp563=) c.*107C>T (n.*107C>T) c.1173C>T (p.Asp391=) c.963C>T (p.Asp321=) c.1035C>T (p.Asp345=) c.903C>T (p.Asp301=) n.1739C>T | dbSNP |
| 6 | g.152098871C>A | CA366085862 | ESR1 | c.1693C>A (p.Gln565Lys) n.1021C>A c.910C>A (p.Gln304Lys) c.851-26395C>A (n.851-26395C>A) c.*568C>A (n.*568C>A) c.1699C>A (p.Gln567Lys) c.1690C>A (p.Gln564Lys) c.*108C>A (n.*108C>A) c.1174C>A (p.Gln392Lys) c.964C>A (p.Gln322Lys) c.1036C>A (p.Gln346Lys) c.904C>A (p.Gln302Lys) n.1740C>A | dbSNP |
| 6 | g.152098871C>G | CA366085860 | ESR1 | c.1693C>G (p.Gln565Glu) n.1021C>G c.910C>G (p.Gln304Glu) c.851-26395C>G (n.851-26395C>G) c.*568C>G (n.*568C>G) c.1699C>G (p.Gln567Glu) c.1690C>G (p.Gln564Glu) c.*108C>G (n.*108C>G) c.1174C>G (p.Gln392Glu) c.964C>G (p.Gln322Glu) c.1036C>G (p.Gln346Glu) c.904C>G (p.Gln302Glu) n.1740C>G | |
| 6 | g.152098871C>T | CA366085861 | ESR1 | c.1693C>T (p.Gln565Ter) n.1021C>T c.910C>T (p.Gln304Ter) c.851-26395C>T (n.851-26395C>T) c.*568C>T (n.*568C>T) c.1699C>T (p.Gln567Ter) c.1690C>T (p.Gln564Ter) c.*108C>T (n.*108C>T) c.1174C>T (p.Gln392Ter) c.964C>T (p.Gln322Ter) c.1036C>T (p.Gln346Ter) c.904C>T (p.Gln302Ter) n.1740C>T | |
| 6 | g.152098872A>C | CA366085863 | ESR1 | c.1694A>C (p.Gln565Pro) n.1022A>C c.911A>C (p.Gln304Pro) c.851-26394A>C (n.851-26394A>C) c.*569A>C (n.*569A>C) c.1700A>C (p.Gln567Pro) c.1691A>C (p.Gln564Pro) c.*109A>C (n.*109A>C) c.1175A>C (p.Gln392Pro) c.965A>C (p.Gln322Pro) c.1037A>C (p.Gln346Pro) c.905A>C (p.Gln302Pro) n.1741A>C | |
| 6 | g.152098872A>G | CA366085864 | ESR1 | c.1694A>G (p.Gln565Arg) n.1022A>G c.911A>G (p.Gln304Arg) c.851-26394A>G (n.851-26394A>G) c.*569A>G (n.*569A>G) c.1700A>G (p.Gln567Arg) c.1691A>G (p.Gln564Arg) c.*109A>G (n.*109A>G) c.1175A>G (p.Gln392Arg) c.965A>G (p.Gln322Arg) c.1037A>G (p.Gln346Arg) c.905A>G (p.Gln302Arg) n.1741A>G | |
| 6 | g.152098872A>T | CA366085865 | ESR1 | c.1694A>T (p.Gln565Leu) n.1022A>T c.911A>T (p.Gln304Leu) c.851-26394A>T (n.851-26394A>T) c.*569A>T (n.*569A>T) c.1700A>T (p.Gln567Leu) c.1691A>T (p.Gln564Leu) c.*109A>T (n.*109A>T) c.1175A>T (p.Gln392Leu) c.965A>T (p.Gln322Leu) c.1037A>T (p.Gln346Leu) c.905A>T (p.Gln302Leu) n.1741A>T | |
| 6 | g.152098873A>C | CA366085866 | ESR1 | c.1695A>C (p.Gln565His) n.1023A>C c.912A>C (p.Gln304His) c.851-26393A>C (n.851-26393A>C) c.*570A>C (n.*570A>C) c.1701A>C (p.Gln567His) c.1692A>C (p.Gln564His) c.*110A>C (n.*110A>C) c.1176A>C (p.Gln392His) c.966A>C (p.Gln322His) c.1038A>C (p.Gln346His) c.906A>C (p.Gln302His) n.1742A>C | |
| 6 | g.152098873A>G | CA452746621 | ESR1 | c.1695A>G (p.Gln565=) n.1023A>G c.912A>G (p.Gln304=) c.851-26393A>G (n.851-26393A>G) c.*570A>G (n.*570A>G) c.1701A>G (p.Gln567=) c.1692A>G (p.Gln564=) c.*110A>G (n.*110A>G) c.1176A>G (p.Gln392=) c.966A>G (p.Gln322=) c.1038A>G (p.Gln346=) c.906A>G (p.Gln302=) n.1742A>G | |
| 6 | g.152098873A>T | CA366085867 | ESR1 | c.1695A>T (p.Gln565His) n.1023A>T c.912A>T (p.Gln304His) c.851-26393A>T (n.851-26393A>T) c.*570A>T (n.*570A>T) c.1701A>T (p.Gln567His) c.1692A>T (p.Gln564His) c.*110A>T (n.*110A>T) c.1176A>T (p.Gln392His) c.966A>T (p.Gln322His) c.1038A>T (p.Gln346His) c.906A>T (p.Gln302His) n.1742A>T | |
| 6 | g.152098874A= | CA1673175460 | ESR1 | c.1696A= (p.Ser566=) n.1024A= c.913A= (p.Ser305=) c.851-26392A= (n.851-26392A=) c.*571A= (n.*571A=) c.1702A= (p.Ser568=) c.1693A= (p.Ser565=) c.*111A= (n.*111A=) c.1177A= (p.Ser393=) c.967A= (p.Ser323=) c.1039A= (p.Ser347=) c.907A= (p.Ser303=) n.1743A= | |
| 6 | g.152098874A>C | CA366085868 | ESR1 | c.1696A>C (p.Ser566Arg) n.1024A>C c.913A>C (p.Ser305Arg) c.851-26392A>C (n.851-26392A>C) c.*571A>C (n.*571A>C) c.1702A>C (p.Ser568Arg) c.1693A>C (p.Ser565Arg) c.*111A>C (n.*111A>C) c.1177A>C (p.Ser393Arg) c.967A>C (p.Ser323Arg) c.1039A>C (p.Ser347Arg) c.907A>C (p.Ser303Arg) n.1743A>C | |
| 6 | g.152098874A>G | CA366085869 | ESR1 | c.1696A>G (p.Ser566Gly) n.1024A>G c.913A>G (p.Ser305Gly) c.851-26392A>G (n.851-26392A>G) c.*571A>G (n.*571A>G) c.1702A>G (p.Ser568Gly) c.1693A>G (p.Ser565Gly) c.*111A>G (n.*111A>G) c.1177A>G (p.Ser393Gly) c.967A>G (p.Ser323Gly) c.1039A>G (p.Ser347Gly) c.907A>G (p.Ser303Gly) n.1743A>G | dbSNP |
| 6 | g.152098874A>T | CA366085870 | ESR1 | c.1696A>T (p.Ser566Cys) n.1024A>T c.913A>T (p.Ser305Cys) c.851-26392A>T (n.851-26392A>T) c.*571A>T (n.*571A>T) c.1702A>T (p.Ser568Cys) c.1693A>T (p.Ser565Cys) c.*111A>T (n.*111A>T) c.1177A>T (p.Ser393Cys) c.967A>T (p.Ser323Cys) c.1039A>T (p.Ser347Cys) c.907A>T (p.Ser303Cys) n.1743A>T | dbSNP |
| 6 | g.152098875G>A | CA4052526 | ESR1 | c.1697G>A (p.Ser566Asn) n.1025G>A c.914G>A (p.Ser305Asn) c.851-26391G>A (n.851-26391G>A) c.*572G>A (n.*572G>A) c.1703G>A (p.Ser568Asn) c.1694G>A (p.Ser565Asn) c.*112G>A (n.*112G>A) c.1178G>A (p.Ser393Asn) c.968G>A (p.Ser323Asn) c.1040G>A (p.Ser347Asn) c.908G>A (p.Ser303Asn) n.1744G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152098875G>C | CA366085871 | ESR1 | c.1697G>C (p.Ser566Thr) n.1025G>C c.914G>C (p.Ser305Thr) c.851-26391G>C (n.851-26391G>C) c.*572G>C (n.*572G>C) c.1703G>C (p.Ser568Thr) c.1694G>C (p.Ser565Thr) c.*112G>C (n.*112G>C) c.1178G>C (p.Ser393Thr) c.968G>C (p.Ser323Thr) c.1040G>C (p.Ser347Thr) c.908G>C (p.Ser303Thr) n.1744G>C | dbSNP |
| 6 | g.152098875G= | CA1673175464 | ESR1 | c.1697G= (p.Ser566=) n.1025G= c.914G= (p.Ser305=) c.851-26391G= (n.851-26391G=) c.*572G= (n.*572G=) c.1703G= (p.Ser568=) c.1694G= (p.Ser565=) c.*112G= (n.*112G=) c.1178G= (p.Ser393=) c.968G= (p.Ser323=) c.1040G= (p.Ser347=) c.908G= (p.Ser303=) n.1744G= | |
| 6 | g.152098875G>T | CA366085872 | ESR1 | c.1697G>T (p.Ser566Ile) n.1025G>T c.914G>T (p.Ser305Ile) c.851-26391G>T (n.851-26391G>T) c.*572G>T (n.*572G>T) c.1703G>T (p.Ser568Ile) c.1694G>T (p.Ser565Ile) c.*112G>T (n.*112G>T) c.1178G>T (p.Ser393Ile) c.968G>T (p.Ser323Ile) c.1040G>T (p.Ser347Ile) c.908G>T (p.Ser303Ile) n.1744G>T | |
| 6 | g.152098876C>A | CA366085873 | ESR1 | c.1698C>A (p.Ser566Arg) n.1026C>A c.915C>A (p.Ser305Arg) c.851-26390C>A (n.851-26390C>A) c.*573C>A (n.*573C>A) c.1704C>A (p.Ser568Arg) c.1695C>A (p.Ser565Arg) c.*113C>A (n.*113C>A) c.1179C>A (p.Ser393Arg) c.969C>A (p.Ser323Arg) c.1041C>A (p.Ser347Arg) c.909C>A (p.Ser303Arg) n.1745C>A | |
| 6 | g.152098876C= | CA1673175468 | ESR1 | c.1698C= (p.Ser566=) n.1026C= c.915C= (p.Ser305=) c.851-26390C= (n.851-26390C=) c.*573C= (n.*573C=) c.1704C= (p.Ser568=) c.1695C= (p.Ser565=) c.*113C= (n.*113C=) c.1179C= (p.Ser393=) c.969C= (p.Ser323=) c.1041C= (p.Ser347=) c.909C= (p.Ser303=) n.1745C= | |
| 6 | g.152098876C>G | CA366085874 | ESR1 | c.1698C>G (p.Ser566Arg) n.1026C>G c.915C>G (p.Ser305Arg) c.851-26390C>G (n.851-26390C>G) c.*573C>G (n.*573C>G) c.1704C>G (p.Ser568Arg) c.1695C>G (p.Ser565Arg) c.*113C>G (n.*113C>G) c.1179C>G (p.Ser393Arg) c.969C>G (p.Ser323Arg) c.1041C>G (p.Ser347Arg) c.909C>G (p.Ser303Arg) n.1745C>G | dbSNP |
| 6 | g.152098876C>T | CA150173919 | ESR1 | c.1698C>T (p.Ser566=) n.1026C>T c.915C>T (p.Ser305=) c.851-26390C>T (n.851-26390C>T) c.*573C>T (n.*573C>T) c.1704C>T (p.Ser568=) c.1695C>T (p.Ser565=) c.*113C>T (n.*113C>T) c.1179C>T (p.Ser393=) c.969C>T (p.Ser323=) c.1041C>T (p.Ser347=) c.909C>T (p.Ser303=) n.1745C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152098877C>A | CA366085877 | ESR1 | c.1699C>A (p.His567Asn) n.1027C>A c.916C>A (p.His306Asn) c.851-26389C>A (n.851-26389C>A) c.*574C>A (n.*574C>A) c.1705C>A (p.His569Asn) c.1696C>A (p.His566Asn) c.*114C>A (n.*114C>A) c.1180C>A (p.His394Asn) c.970C>A (p.His324Asn) c.1042C>A (p.His348Asn) c.910C>A (p.His304Asn) n.1746C>A | |
| 6 | g.152098877C= | CA1673175473 | ESR1 | c.1699C= (p.His567=) n.1027C= c.916C= (p.His306=) c.851-26389C= (n.851-26389C=) c.*574C= (n.*574C=) c.1705C= (p.His569=) c.1696C= (p.His566=) c.*114C= (n.*114C=) c.1180C= (p.His394=) c.970C= (p.His324=) c.1042C= (p.His348=) c.910C= (p.His304=) n.1746C= | |
| 6 | g.152098877C>G | CA366085875 | ESR1 | c.1699C>G (p.His567Asp) n.1027C>G c.916C>G (p.His306Asp) c.851-26389C>G (n.851-26389C>G) c.*574C>G (n.*574C>G) c.1705C>G (p.His569Asp) c.1696C>G (p.His566Asp) c.*114C>G (n.*114C>G) c.1180C>G (p.His394Asp) c.970C>G (p.His324Asp) c.1042C>G (p.His348Asp) c.910C>G (p.His304Asp) n.1746C>G | |
| 6 | g.152098877C>T | CA366085876 | ESR1 | c.1699C>T (p.His567Tyr) n.1027C>T c.916C>T (p.His306Tyr) c.851-26389C>T (n.851-26389C>T) c.*574C>T (n.*574C>T) c.1705C>T (p.His569Tyr) c.1696C>T (p.His566Tyr) c.*114C>T (n.*114C>T) c.1180C>T (p.His394Tyr) c.970C>T (p.His324Tyr) c.1042C>T (p.His348Tyr) c.910C>T (p.His304Tyr) n.1746C>T | dbSNP gnomAD v2 |
| 6 | g.152098878A>C | CA366085878 | ESR1 | c.1700A>C (p.His567Pro) n.1028A>C c.917A>C (p.His306Pro) c.851-26388A>C (n.851-26388A>C) c.*575A>C (n.*575A>C) c.1706A>C (p.His569Pro) c.1697A>C (p.His566Pro) c.*115A>C (n.*115A>C) c.1181A>C (p.His394Pro) c.971A>C (p.His324Pro) c.1043A>C (p.His348Pro) c.911A>C (p.His304Pro) n.1747A>C | dbSNP gnomAD v4 |
| 6 | g.152098878A>G | CA366085879 | ESR1 | c.1700A>G (p.His567Arg) n.1028A>G c.917A>G (p.His306Arg) c.851-26388A>G (n.851-26388A>G) c.*575A>G (n.*575A>G) c.1706A>G (p.His569Arg) c.1697A>G (p.His566Arg) c.*115A>G (n.*115A>G) c.1181A>G (p.His394Arg) c.971A>G (p.His324Arg) c.1043A>G (p.His348Arg) c.911A>G (p.His304Arg) n.1747A>G | dbSNP |
| 6 | g.152098878A>T | CA366085880 | ESR1 | c.1700A>T (p.His567Leu) n.1028A>T c.917A>T (p.His306Leu) c.851-26388A>T (n.851-26388A>T) c.*575A>T (n.*575A>T) c.1706A>T (p.His569Leu) c.1697A>T (p.His566Leu) c.*115A>T (n.*115A>T) c.1181A>T (p.His394Leu) c.971A>T (p.His324Leu) c.1043A>T (p.His348Leu) c.911A>T (p.His304Leu) n.1747A>T | dbSNP |
| 6 | g.152098879C>A | CA366085881 | ESR1 | c.1701C>A (p.His567Gln) n.1029C>A c.918C>A (p.His306Gln) c.851-26387C>A (n.851-26387C>A) c.*576C>A (n.*576C>A) c.1707C>A (p.His569Gln) c.1698C>A (p.His566Gln) c.*116C>A (n.*116C>A) c.1182C>A (p.His394Gln) c.972C>A (p.His324Gln) c.1044C>A (p.His348Gln) c.912C>A (p.His304Gln) n.1748C>A | |
| 6 | g.152098879C>G | CA366085882 | ESR1 | c.1701C>G (p.His567Gln) n.1029C>G c.918C>G (p.His306Gln) c.851-26387C>G (n.851-26387C>G) c.*576C>G (n.*576C>G) c.1707C>G (p.His569Gln) c.1698C>G (p.His566Gln) c.*116C>G (n.*116C>G) c.1182C>G (p.His394Gln) c.972C>G (p.His324Gln) c.1044C>G (p.His348Gln) c.912C>G (p.His304Gln) n.1748C>G | gnomAD v4 |
| 6 | g.152098879C>T | CA452746622 | ESR1 | c.1701C>T (p.His567=) n.1029C>T c.918C>T (p.His306=) c.851-26387C>T (n.851-26387C>T) c.*576C>T (n.*576C>T) c.1707C>T (p.His569=) c.1698C>T (p.His566=) c.*116C>T (n.*116C>T) c.1182C>T (p.His394=) c.972C>T (p.His324=) c.1044C>T (p.His348=) c.912C>T (p.His304=) n.1748C>T | |
| 6 | g.152098880T>A | CA366085883 | ESR1 | c.1702T>A (p.Leu568Met) n.1030T>A c.919T>A (p.Leu307Met) c.851-26386T>A (n.851-26386T>A) c.*577T>A (n.*577T>A) c.1708T>A (p.Leu570Met) c.1699T>A (p.Leu567Met) c.*117T>A (n.*117T>A) c.1183T>A (p.Leu395Met) c.973T>A (p.Leu325Met) c.1045T>A (p.Leu349Met) c.913T>A (p.Leu305Met) n.1749T>A | dbSNP |