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.152122511G>A | CA452969607 | ESR1,SYNE1 | c.2853C>T (p.Ser951=) c.26319C>T (p.Ser8773=) c.26175C>T (p.Ser8725=) c.1662C>T c.2037C>T c.1904C>T c.2169C>T (n.2169C>T) c.25104C>T (p.Ser8368=) n.3067C>T c.5095C>T (n.5095C>T) n.10011C>T c.4198C>T (n.4198C>T) n.9903C>T c.851-2755G>A (n.851-2755G>A) n.2933C>T n.6956C>T c.2784C>T (p.Ser928=) c.26466C>T (p.Ser8822=) c.26454C>T (p.Ser8818=) c.26445C>T (p.Ser8815=) c.26424C>T (p.Ser8808=) c.26415C>T (p.Ser8805=) c.26409C>T (p.Ser8803=) c.26397C>T (p.Ser8799=) c.26394C>T (p.Ser8798=) c.26355C>T (p.Ser8785=) c.26340C>T (p.Ser8780=) c.26325C>T (p.Ser8775=) c.26313C>T (p.Ser8771=) c.26310C>T (p.Ser8770=) c.26307C>T (p.Ser8769=) c.*130C>T (n.*130C>T) c.26463C>T (p.Ser8821=) c.26451C>T (p.Ser8817=) c.26301C>T (p.Ser8767=) c.24741C>T (p.Ser8247=) c.24234C>T (p.Ser8078=) c.19701C>T (p.Ser6567=) c.26439C>T (p.Ser8813=) c.26388C>T (p.Ser8796=) c.26352C>T (p.Ser8784=) c.26199C>T (p.Ser8733=) | |
| 6 | g.152122511G>C | CA366088688 | ESR1,SYNE1 | c.2853C>G (p.Ser951Arg) c.26319C>G (p.Ser8773Arg) c.26175C>G (p.Ser8725Arg) c.1662C>G c.2037C>G c.1904C>G c.2169C>G (n.2169C>G) c.25104C>G (p.Ser8368Arg) n.3067C>G c.5095C>G (n.5095C>G) n.10011C>G c.4198C>G (n.4198C>G) n.9903C>G c.851-2755G>C (n.851-2755G>C) n.2933C>G n.6956C>G c.2784C>G (p.Ser928Arg) c.26466C>G (p.Ser8822Arg) c.26454C>G (p.Ser8818Arg) c.26445C>G (p.Ser8815Arg) c.26424C>G (p.Ser8808Arg) c.26415C>G (p.Ser8805Arg) c.26409C>G (p.Ser8803Arg) c.26397C>G (p.Ser8799Arg) c.26394C>G (p.Ser8798Arg) c.26355C>G (p.Ser8785Arg) c.26340C>G (p.Ser8780Arg) c.26325C>G (p.Ser8775Arg) c.26313C>G (p.Ser8771Arg) c.26310C>G (p.Ser8770Arg) c.26307C>G (p.Ser8769Arg) c.*130C>G (n.*130C>G) c.26463C>G (p.Ser8821Arg) c.26451C>G (p.Ser8817Arg) c.26301C>G (p.Ser8767Arg) c.24741C>G (p.Ser8247Arg) c.24234C>G (p.Ser8078Arg) c.19701C>G (p.Ser6567Arg) c.26439C>G (p.Ser8813Arg) c.26388C>G (p.Ser8796Arg) c.26352C>G (p.Ser8784Arg) c.26199C>G (p.Ser8733Arg) | |
| 6 | g.152122511G>T | CA366088690 | ESR1,SYNE1 | c.2853C>A (p.Ser951Arg) c.26319C>A (p.Ser8773Arg) c.26175C>A (p.Ser8725Arg) c.1662C>A c.2037C>A c.1904C>A c.2169C>A (n.2169C>A) c.25104C>A (p.Ser8368Arg) n.3067C>A c.5095C>A (n.5095C>A) n.10011C>A c.4198C>A (n.4198C>A) n.9903C>A c.851-2755G>T (n.851-2755G>T) n.2933C>A n.6956C>A c.2784C>A (p.Ser928Arg) c.26466C>A (p.Ser8822Arg) c.26454C>A (p.Ser8818Arg) c.26445C>A (p.Ser8815Arg) c.26424C>A (p.Ser8808Arg) c.26415C>A (p.Ser8805Arg) c.26409C>A (p.Ser8803Arg) c.26397C>A (p.Ser8799Arg) c.26394C>A (p.Ser8798Arg) c.26355C>A (p.Ser8785Arg) c.26340C>A (p.Ser8780Arg) c.26325C>A (p.Ser8775Arg) c.26313C>A (p.Ser8771Arg) c.26310C>A (p.Ser8770Arg) c.26307C>A (p.Ser8769Arg) c.*130C>A (n.*130C>A) c.26463C>A (p.Ser8821Arg) c.26451C>A (p.Ser8817Arg) c.26301C>A (p.Ser8767Arg) c.24741C>A (p.Ser8247Arg) c.24234C>A (p.Ser8078Arg) c.19701C>A (p.Ser6567Arg) c.26439C>A (p.Ser8813Arg) c.26388C>A (p.Ser8796Arg) c.26352C>A (p.Ser8784Arg) c.26199C>A (p.Ser8733Arg) | |
| 6 | g.152122512C>A | CA366088691 | ESR1,SYNE1 | c.2852G>T (p.Ser951Ile) c.26318G>T (p.Ser8773Ile) c.26174G>T (p.Ser8725Ile) c.1661G>T c.2036G>T c.1903G>T c.2168G>T (n.2168G>T) c.25103G>T (p.Ser8368Ile) n.3066G>T c.5094G>T (n.5094G>T) n.10010G>T c.4197G>T (n.4197G>T) n.9902G>T c.851-2754C>A (n.851-2754C>A) n.2932G>T n.6955G>T c.2783G>T (p.Ser928Ile) c.26465G>T (p.Ser8822Ile) c.26453G>T (p.Ser8818Ile) c.26444G>T (p.Ser8815Ile) c.26423G>T (p.Ser8808Ile) c.26414G>T (p.Ser8805Ile) c.26408G>T (p.Ser8803Ile) c.26396G>T (p.Ser8799Ile) c.26393G>T (p.Ser8798Ile) c.26354G>T (p.Ser8785Ile) c.26339G>T (p.Ser8780Ile) c.26324G>T (p.Ser8775Ile) c.26312G>T (p.Ser8771Ile) c.26309G>T (p.Ser8770Ile) c.26306G>T (p.Ser8769Ile) c.*129G>T (n.*129G>T) c.26462G>T (p.Ser8821Ile) c.26450G>T (p.Ser8817Ile) c.26300G>T (p.Ser8767Ile) c.24740G>T (p.Ser8247Ile) c.24233G>T (p.Ser8078Ile) c.19700G>T (p.Ser6567Ile) c.26438G>T (p.Ser8813Ile) c.26387G>T (p.Ser8796Ile) c.26351G>T (p.Ser8784Ile) c.26198G>T (p.Ser8733Ile) | |
| 6 | g.152122512C>G | CA366088693 | ESR1,SYNE1 | c.2852G>C (p.Ser951Thr) c.26318G>C (p.Ser8773Thr) c.26174G>C (p.Ser8725Thr) c.1661G>C c.2036G>C c.1903G>C c.2168G>C (n.2168G>C) c.25103G>C (p.Ser8368Thr) n.3066G>C c.5094G>C (n.5094G>C) n.10010G>C c.4197G>C (n.4197G>C) n.9902G>C c.851-2754C>G (n.851-2754C>G) n.2932G>C n.6955G>C c.2783G>C (p.Ser928Thr) c.26465G>C (p.Ser8822Thr) c.26453G>C (p.Ser8818Thr) c.26444G>C (p.Ser8815Thr) c.26423G>C (p.Ser8808Thr) c.26414G>C (p.Ser8805Thr) c.26408G>C (p.Ser8803Thr) c.26396G>C (p.Ser8799Thr) c.26393G>C (p.Ser8798Thr) c.26354G>C (p.Ser8785Thr) c.26339G>C (p.Ser8780Thr) c.26324G>C (p.Ser8775Thr) c.26312G>C (p.Ser8771Thr) c.26309G>C (p.Ser8770Thr) c.26306G>C (p.Ser8769Thr) c.*129G>C (n.*129G>C) c.26462G>C (p.Ser8821Thr) c.26450G>C (p.Ser8817Thr) c.26300G>C (p.Ser8767Thr) c.24740G>C (p.Ser8247Thr) c.24233G>C (p.Ser8078Thr) c.19700G>C (p.Ser6567Thr) c.26438G>C (p.Ser8813Thr) c.26387G>C (p.Ser8796Thr) c.26351G>C (p.Ser8784Thr) c.26198G>C (p.Ser8733Thr) | gnomAD v4 |
| 6 | g.152122512C>T | CA366088694 | ESR1,SYNE1 | c.2852G>A (p.Ser951Asn) c.26318G>A (p.Ser8773Asn) c.26174G>A (p.Ser8725Asn) c.1661G>A c.2036G>A c.1903G>A c.2168G>A (n.2168G>A) c.25103G>A (p.Ser8368Asn) n.3066G>A c.5094G>A (n.5094G>A) n.10010G>A c.4197G>A (n.4197G>A) n.9902G>A c.851-2754C>T (n.851-2754C>T) n.2932G>A n.6955G>A c.2783G>A (p.Ser928Asn) c.26465G>A (p.Ser8822Asn) c.26453G>A (p.Ser8818Asn) c.26444G>A (p.Ser8815Asn) c.26423G>A (p.Ser8808Asn) c.26414G>A (p.Ser8805Asn) c.26408G>A (p.Ser8803Asn) c.26396G>A (p.Ser8799Asn) c.26393G>A (p.Ser8798Asn) c.26354G>A (p.Ser8785Asn) c.26339G>A (p.Ser8780Asn) c.26324G>A (p.Ser8775Asn) c.26312G>A (p.Ser8771Asn) c.26309G>A (p.Ser8770Asn) c.26306G>A (p.Ser8769Asn) c.*129G>A (n.*129G>A) c.26462G>A (p.Ser8821Asn) c.26450G>A (p.Ser8817Asn) c.26300G>A (p.Ser8767Asn) c.24740G>A (p.Ser8247Asn) c.24233G>A (p.Ser8078Asn) c.19700G>A (p.Ser6567Asn) c.26438G>A (p.Ser8813Asn) c.26387G>A (p.Ser8796Asn) c.26351G>A (p.Ser8784Asn) c.26198G>A (p.Ser8733Asn) | |
| 6 | g.152122513T>A | CA366088701 | ESR1,SYNE1 | c.2851A>T (p.Ser951Cys) c.26317A>T (p.Ser8773Cys) c.26173A>T (p.Ser8725Cys) c.1660A>T c.2035A>T c.1902A>T c.2167A>T (n.2167A>T) c.25102A>T (p.Ser8368Cys) n.3065A>T c.5093A>T (n.5093A>T) n.10009A>T c.4196A>T (n.4196A>T) n.9901A>T c.851-2753T>A (n.851-2753T>A) n.2931A>T n.6954A>T c.2782A>T (p.Ser928Cys) c.26464A>T (p.Ser8822Cys) c.26452A>T (p.Ser8818Cys) c.26443A>T (p.Ser8815Cys) c.26422A>T (p.Ser8808Cys) c.26413A>T (p.Ser8805Cys) c.26407A>T (p.Ser8803Cys) c.26395A>T (p.Ser8799Cys) c.26392A>T (p.Ser8798Cys) c.26353A>T (p.Ser8785Cys) c.26338A>T (p.Ser8780Cys) c.26323A>T (p.Ser8775Cys) c.26311A>T (p.Ser8771Cys) c.26308A>T (p.Ser8770Cys) c.26305A>T (p.Ser8769Cys) c.*128A>T (n.*128A>T) c.26461A>T (p.Ser8821Cys) c.26449A>T (p.Ser8817Cys) c.26299A>T (p.Ser8767Cys) c.24739A>T (p.Ser8247Cys) c.24232A>T (p.Ser8078Cys) c.19699A>T (p.Ser6567Cys) c.26437A>T (p.Ser8813Cys) c.26386A>T (p.Ser8796Cys) c.26350A>T (p.Ser8784Cys) c.26197A>T (p.Ser8733Cys) | |
| 6 | g.152122513T>C | CA366088699 | ESR1,SYNE1 | c.2851A>G (p.Ser951Gly) c.26317A>G (p.Ser8773Gly) c.26173A>G (p.Ser8725Gly) c.1660A>G c.2035A>G c.1902A>G c.2167A>G (n.2167A>G) c.25102A>G (p.Ser8368Gly) n.3065A>G c.5093A>G (n.5093A>G) n.10009A>G c.4196A>G (n.4196A>G) n.9901A>G c.851-2753T>C (n.851-2753T>C) n.2931A>G n.6954A>G c.2782A>G (p.Ser928Gly) c.26464A>G (p.Ser8822Gly) c.26452A>G (p.Ser8818Gly) c.26443A>G (p.Ser8815Gly) c.26422A>G (p.Ser8808Gly) c.26413A>G (p.Ser8805Gly) c.26407A>G (p.Ser8803Gly) c.26395A>G (p.Ser8799Gly) c.26392A>G (p.Ser8798Gly) c.26353A>G (p.Ser8785Gly) c.26338A>G (p.Ser8780Gly) c.26323A>G (p.Ser8775Gly) c.26311A>G (p.Ser8771Gly) c.26308A>G (p.Ser8770Gly) c.26305A>G (p.Ser8769Gly) c.*128A>G (n.*128A>G) c.26461A>G (p.Ser8821Gly) c.26449A>G (p.Ser8817Gly) c.26299A>G (p.Ser8767Gly) c.24739A>G (p.Ser8247Gly) c.24232A>G (p.Ser8078Gly) c.19699A>G (p.Ser6567Gly) c.26437A>G (p.Ser8813Gly) c.26386A>G (p.Ser8796Gly) c.26350A>G (p.Ser8784Gly) c.26197A>G (p.Ser8733Gly) | gnomAD v4 |
| 6 | g.152122513T>G | CA366088697 | ESR1,SYNE1 | c.2851A>C (p.Ser951Arg) c.26317A>C (p.Ser8773Arg) c.26173A>C (p.Ser8725Arg) c.1660A>C c.2035A>C c.1902A>C c.2167A>C (n.2167A>C) c.25102A>C (p.Ser8368Arg) n.3065A>C c.5093A>C (n.5093A>C) n.10009A>C c.4196A>C (n.4196A>C) n.9901A>C c.851-2753T>G (n.851-2753T>G) n.2931A>C n.6954A>C c.2782A>C (p.Ser928Arg) c.26464A>C (p.Ser8822Arg) c.26452A>C (p.Ser8818Arg) c.26443A>C (p.Ser8815Arg) c.26422A>C (p.Ser8808Arg) c.26413A>C (p.Ser8805Arg) c.26407A>C (p.Ser8803Arg) c.26395A>C (p.Ser8799Arg) c.26392A>C (p.Ser8798Arg) c.26353A>C (p.Ser8785Arg) c.26338A>C (p.Ser8780Arg) c.26323A>C (p.Ser8775Arg) c.26311A>C (p.Ser8771Arg) c.26308A>C (p.Ser8770Arg) c.26305A>C (p.Ser8769Arg) c.*128A>C (n.*128A>C) c.26461A>C (p.Ser8821Arg) c.26449A>C (p.Ser8817Arg) c.26299A>C (p.Ser8767Arg) c.24739A>C (p.Ser8247Arg) c.24232A>C (p.Ser8078Arg) c.19699A>C (p.Ser6567Arg) c.26437A>C (p.Ser8813Arg) c.26386A>C (p.Ser8796Arg) c.26350A>C (p.Ser8784Arg) c.26197A>C (p.Ser8733Arg) | |
| 6 | g.152122514G>A | CA4052587 | ESR1,SYNE1 | c.2850C>T (p.Tyr950=) c.26316C>T (p.Tyr8772=) c.26172C>T (p.Tyr8724=) c.1659C>T c.2034C>T c.1901C>T c.2166C>T (n.2166C>T) c.25101C>T (p.Tyr8367=) n.3064C>T c.5092C>T (n.5092C>T) n.10008C>T c.4195C>T (n.4195C>T) n.9900C>T c.851-2752G>A (n.851-2752G>A) n.2930C>T n.6953C>T c.2781C>T (p.Tyr927=) c.26463C>T (p.Tyr8821=) c.26451C>T (p.Tyr8817=) c.26442C>T (p.Tyr8814=) c.26421C>T (p.Tyr8807=) c.26412C>T (p.Tyr8804=) c.26406C>T (p.Tyr8802=) c.26394C>T (p.Tyr8798=) c.26391C>T (p.Tyr8797=) c.26352C>T (p.Tyr8784=) c.26337C>T (p.Tyr8779=) c.26322C>T (p.Tyr8774=) c.26310C>T (p.Tyr8770=) c.26307C>T (p.Tyr8769=) c.26304C>T (p.Tyr8768=) c.*127C>T (n.*127C>T) c.26460C>T (p.Tyr8820=) c.26448C>T (p.Tyr8816=) c.26298C>T (p.Tyr8766=) c.24738C>T (p.Tyr8246=) c.24231C>T (p.Tyr8077=) c.19698C>T (p.Tyr6566=) c.26436C>T (p.Tyr8812=) c.26385C>T (p.Tyr8795=) c.26349C>T (p.Tyr8783=) c.26196C>T (p.Tyr8732=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122514G>C | CA366088703 | ESR1,SYNE1 | c.2850C>G (p.Tyr950Ter) c.26316C>G (p.Tyr8772Ter) c.26172C>G (p.Tyr8724Ter) c.1659C>G c.2034C>G c.1901C>G c.2166C>G (n.2166C>G) c.25101C>G (p.Tyr8367Ter) n.3064C>G c.5092C>G (n.5092C>G) n.10008C>G c.4195C>G (n.4195C>G) n.9900C>G c.851-2752G>C (n.851-2752G>C) n.2930C>G n.6953C>G c.2781C>G (p.Tyr927Ter) c.26463C>G (p.Tyr8821Ter) c.26451C>G (p.Tyr8817Ter) c.26442C>G (p.Tyr8814Ter) c.26421C>G (p.Tyr8807Ter) c.26412C>G (p.Tyr8804Ter) c.26406C>G (p.Tyr8802Ter) c.26394C>G (p.Tyr8798Ter) c.26391C>G (p.Tyr8797Ter) c.26352C>G (p.Tyr8784Ter) c.26337C>G (p.Tyr8779Ter) c.26322C>G (p.Tyr8774Ter) c.26310C>G (p.Tyr8770Ter) c.26307C>G (p.Tyr8769Ter) c.26304C>G (p.Tyr8768Ter) c.*127C>G (n.*127C>G) c.26460C>G (p.Tyr8820Ter) c.26448C>G (p.Tyr8816Ter) c.26298C>G (p.Tyr8766Ter) c.24738C>G (p.Tyr8246Ter) c.24231C>G (p.Tyr8077Ter) c.19698C>G (p.Tyr6566Ter) c.26436C>G (p.Tyr8812Ter) c.26385C>G (p.Tyr8795Ter) c.26349C>G (p.Tyr8783Ter) c.26196C>G (p.Tyr8732Ter) | |
| 6 | g.152122514G= | CA1673188905 | ESR1,SYNE1 | c.2850C= (p.Tyr950=) c.26316C= (p.Tyr8772=) c.26172C= (p.Tyr8724=) c.1659C= c.2034C= c.1901C= c.2166C= (n.2166C=) c.25101C= (p.Tyr8367=) n.3064C= c.5092C= (n.5092C=) n.10008C= c.4195C= (n.4195C=) n.9900C= c.851-2752G= (n.851-2752G=) n.2930C= n.6953C= c.2781C= (p.Tyr927=) c.26463C= (p.Tyr8821=) c.26451C= (p.Tyr8817=) c.26442C= (p.Tyr8814=) c.26421C= (p.Tyr8807=) c.26412C= (p.Tyr8804=) c.26406C= (p.Tyr8802=) c.26394C= (p.Tyr8798=) c.26391C= (p.Tyr8797=) c.26352C= (p.Tyr8784=) c.26337C= (p.Tyr8779=) c.26322C= (p.Tyr8774=) c.26310C= (p.Tyr8770=) c.26307C= (p.Tyr8769=) c.26304C= (p.Tyr8768=) c.*127C= (n.*127C=) c.26460C= (p.Tyr8820=) c.26448C= (p.Tyr8816=) c.26298C= (p.Tyr8766=) c.24738C= (p.Tyr8246=) c.24231C= (p.Tyr8077=) c.19698C= (p.Tyr6566=) c.26436C= (p.Tyr8812=) c.26385C= (p.Tyr8795=) c.26349C= (p.Tyr8783=) c.26196C= (p.Tyr8732=) | |
| 6 | g.152122514G>T | CA366088704 | ESR1,SYNE1 | c.2850C>A (p.Tyr950Ter) c.26316C>A (p.Tyr8772Ter) c.26172C>A (p.Tyr8724Ter) c.1659C>A c.2034C>A c.1901C>A c.2166C>A (n.2166C>A) c.25101C>A (p.Tyr8367Ter) n.3064C>A c.5092C>A (n.5092C>A) n.10008C>A c.4195C>A (n.4195C>A) n.9900C>A c.851-2752G>T (n.851-2752G>T) n.2930C>A n.6953C>A c.2781C>A (p.Tyr927Ter) c.26463C>A (p.Tyr8821Ter) c.26451C>A (p.Tyr8817Ter) c.26442C>A (p.Tyr8814Ter) c.26421C>A (p.Tyr8807Ter) c.26412C>A (p.Tyr8804Ter) c.26406C>A (p.Tyr8802Ter) c.26394C>A (p.Tyr8798Ter) c.26391C>A (p.Tyr8797Ter) c.26352C>A (p.Tyr8784Ter) c.26337C>A (p.Tyr8779Ter) c.26322C>A (p.Tyr8774Ter) c.26310C>A (p.Tyr8770Ter) c.26307C>A (p.Tyr8769Ter) c.26304C>A (p.Tyr8768Ter) c.*127C>A (n.*127C>A) c.26460C>A (p.Tyr8820Ter) c.26448C>A (p.Tyr8816Ter) c.26298C>A (p.Tyr8766Ter) c.24738C>A (p.Tyr8246Ter) c.24231C>A (p.Tyr8077Ter) c.19698C>A (p.Tyr6566Ter) c.26436C>A (p.Tyr8812Ter) c.26385C>A (p.Tyr8795Ter) c.26349C>A (p.Tyr8783Ter) c.26196C>A (p.Tyr8732Ter) | |
| 6 | g.152122515T>A | CA366088706 | ESR1,SYNE1 | c.2849A>T (p.Tyr950Phe) c.26315A>T (p.Tyr8772Phe) c.26171A>T (p.Tyr8724Phe) c.1658A>T c.2033A>T c.1900A>T c.2165A>T (n.2165A>T) c.25100A>T (p.Tyr8367Phe) n.3063A>T c.5091A>T (n.5091A>T) n.10007A>T c.4194A>T (n.4194A>T) n.9899A>T c.851-2751T>A (n.851-2751T>A) n.2929A>T n.6952A>T c.2780A>T (p.Tyr927Phe) c.26462A>T (p.Tyr8821Phe) c.26450A>T (p.Tyr8817Phe) c.26441A>T (p.Tyr8814Phe) c.26420A>T (p.Tyr8807Phe) c.26411A>T (p.Tyr8804Phe) c.26405A>T (p.Tyr8802Phe) c.26393A>T (p.Tyr8798Phe) c.26390A>T (p.Tyr8797Phe) c.26351A>T (p.Tyr8784Phe) c.26336A>T (p.Tyr8779Phe) c.26321A>T (p.Tyr8774Phe) c.26309A>T (p.Tyr8770Phe) c.26306A>T (p.Tyr8769Phe) c.26303A>T (p.Tyr8768Phe) c.*126A>T (n.*126A>T) c.26459A>T (p.Tyr8820Phe) c.26447A>T (p.Tyr8816Phe) c.26297A>T (p.Tyr8766Phe) c.24737A>T (p.Tyr8246Phe) c.24230A>T (p.Tyr8077Phe) c.19697A>T (p.Tyr6566Phe) c.26435A>T (p.Tyr8812Phe) c.26384A>T (p.Tyr8795Phe) c.26348A>T (p.Tyr8783Phe) c.26195A>T (p.Tyr8732Phe) | |
| 6 | g.152122515T>C | CA366088708 | ESR1,SYNE1 | c.2849A>G (p.Tyr950Cys) c.26315A>G (p.Tyr8772Cys) c.26171A>G (p.Tyr8724Cys) c.1658A>G c.2033A>G c.1900A>G c.2165A>G (n.2165A>G) c.25100A>G (p.Tyr8367Cys) n.3063A>G c.5091A>G (n.5091A>G) n.10007A>G c.4194A>G (n.4194A>G) n.9899A>G c.851-2751T>C (n.851-2751T>C) n.2929A>G n.6952A>G c.2780A>G (p.Tyr927Cys) c.26462A>G (p.Tyr8821Cys) c.26450A>G (p.Tyr8817Cys) c.26441A>G (p.Tyr8814Cys) c.26420A>G (p.Tyr8807Cys) c.26411A>G (p.Tyr8804Cys) c.26405A>G (p.Tyr8802Cys) c.26393A>G (p.Tyr8798Cys) c.26390A>G (p.Tyr8797Cys) c.26351A>G (p.Tyr8784Cys) c.26336A>G (p.Tyr8779Cys) c.26321A>G (p.Tyr8774Cys) c.26309A>G (p.Tyr8770Cys) c.26306A>G (p.Tyr8769Cys) c.26303A>G (p.Tyr8768Cys) c.*126A>G (n.*126A>G) c.26459A>G (p.Tyr8820Cys) c.26447A>G (p.Tyr8816Cys) c.26297A>G (p.Tyr8766Cys) c.24737A>G (p.Tyr8246Cys) c.24230A>G (p.Tyr8077Cys) c.19697A>G (p.Tyr6566Cys) c.26435A>G (p.Tyr8812Cys) c.26384A>G (p.Tyr8795Cys) c.26348A>G (p.Tyr8783Cys) c.26195A>G (p.Tyr8732Cys) | |
| 6 | g.152122515T>G | CA366088709 | ESR1,SYNE1 | c.2849A>C (p.Tyr950Ser) c.26315A>C (p.Tyr8772Ser) c.26171A>C (p.Tyr8724Ser) c.1658A>C c.2033A>C c.1900A>C c.2165A>C (n.2165A>C) c.25100A>C (p.Tyr8367Ser) n.3063A>C c.5091A>C (n.5091A>C) n.10007A>C c.4194A>C (n.4194A>C) n.9899A>C c.851-2751T>G (n.851-2751T>G) n.2929A>C n.6952A>C c.2780A>C (p.Tyr927Ser) c.26462A>C (p.Tyr8821Ser) c.26450A>C (p.Tyr8817Ser) c.26441A>C (p.Tyr8814Ser) c.26420A>C (p.Tyr8807Ser) c.26411A>C (p.Tyr8804Ser) c.26405A>C (p.Tyr8802Ser) c.26393A>C (p.Tyr8798Ser) c.26390A>C (p.Tyr8797Ser) c.26351A>C (p.Tyr8784Ser) c.26336A>C (p.Tyr8779Ser) c.26321A>C (p.Tyr8774Ser) c.26309A>C (p.Tyr8770Ser) c.26306A>C (p.Tyr8769Ser) c.26303A>C (p.Tyr8768Ser) c.*126A>C (n.*126A>C) c.26459A>C (p.Tyr8820Ser) c.26447A>C (p.Tyr8816Ser) c.26297A>C (p.Tyr8766Ser) c.24737A>C (p.Tyr8246Ser) c.24230A>C (p.Tyr8077Ser) c.19697A>C (p.Tyr6566Ser) c.26435A>C (p.Tyr8812Ser) c.26384A>C (p.Tyr8795Ser) c.26348A>C (p.Tyr8783Ser) c.26195A>C (p.Tyr8732Ser) | |
| 6 | g.152122516A>C | CA366088712 | ESR1,SYNE1 | c.2848T>G (p.Tyr950Asp) c.26314T>G (p.Tyr8772Asp) c.26170T>G (p.Tyr8724Asp) c.1657T>G c.2032T>G c.1899T>G c.2164T>G (n.2164T>G) c.25099T>G (p.Tyr8367Asp) n.3062T>G c.5090T>G (n.5090T>G) n.10006T>G c.4193T>G (n.4193T>G) n.9898T>G c.851-2750A>C (n.851-2750A>C) n.2928T>G n.6951T>G c.2779T>G (p.Tyr927Asp) c.26461T>G (p.Tyr8821Asp) c.26449T>G (p.Tyr8817Asp) c.26440T>G (p.Tyr8814Asp) c.26419T>G (p.Tyr8807Asp) c.26410T>G (p.Tyr8804Asp) c.26404T>G (p.Tyr8802Asp) c.26392T>G (p.Tyr8798Asp) c.26389T>G (p.Tyr8797Asp) c.26350T>G (p.Tyr8784Asp) c.26335T>G (p.Tyr8779Asp) c.26320T>G (p.Tyr8774Asp) c.26308T>G (p.Tyr8770Asp) c.26305T>G (p.Tyr8769Asp) c.26302T>G (p.Tyr8768Asp) c.*125T>G (n.*125T>G) c.26458T>G (p.Tyr8820Asp) c.26446T>G (p.Tyr8816Asp) c.26296T>G (p.Tyr8766Asp) c.24736T>G (p.Tyr8246Asp) c.24229T>G (p.Tyr8077Asp) c.19696T>G (p.Tyr6566Asp) c.26434T>G (p.Tyr8812Asp) c.26383T>G (p.Tyr8795Asp) c.26347T>G (p.Tyr8783Asp) c.26194T>G (p.Tyr8732Asp) | |
| 6 | g.152122516A>G | CA366088714 | ESR1,SYNE1 | c.2848T>C (p.Tyr950His) c.26314T>C (p.Tyr8772His) c.26170T>C (p.Tyr8724His) c.1657T>C c.2032T>C c.1899T>C c.2164T>C (n.2164T>C) c.25099T>C (p.Tyr8367His) n.3062T>C c.5090T>C (n.5090T>C) n.10006T>C c.4193T>C (n.4193T>C) n.9898T>C c.851-2750A>G (n.851-2750A>G) n.2928T>C n.6951T>C c.2779T>C (p.Tyr927His) c.26461T>C (p.Tyr8821His) c.26449T>C (p.Tyr8817His) c.26440T>C (p.Tyr8814His) c.26419T>C (p.Tyr8807His) c.26410T>C (p.Tyr8804His) c.26404T>C (p.Tyr8802His) c.26392T>C (p.Tyr8798His) c.26389T>C (p.Tyr8797His) c.26350T>C (p.Tyr8784His) c.26335T>C (p.Tyr8779His) c.26320T>C (p.Tyr8774His) c.26308T>C (p.Tyr8770His) c.26305T>C (p.Tyr8769His) c.26302T>C (p.Tyr8768His) c.*125T>C (n.*125T>C) c.26458T>C (p.Tyr8820His) c.26446T>C (p.Tyr8816His) c.26296T>C (p.Tyr8766His) c.24736T>C (p.Tyr8246His) c.24229T>C (p.Tyr8077His) c.19696T>C (p.Tyr6566His) c.26434T>C (p.Tyr8812His) c.26383T>C (p.Tyr8795His) c.26347T>C (p.Tyr8783His) c.26194T>C (p.Tyr8732His) | gnomAD v4 |
| 6 | g.152122516A>T | CA366088715 | ESR1,SYNE1 | c.2848T>A (p.Tyr950Asn) c.26314T>A (p.Tyr8772Asn) c.26170T>A (p.Tyr8724Asn) c.1657T>A c.2032T>A c.1899T>A c.2164T>A (n.2164T>A) c.25099T>A (p.Tyr8367Asn) n.3062T>A c.5090T>A (n.5090T>A) n.10006T>A c.4193T>A (n.4193T>A) n.9898T>A c.851-2750A>T (n.851-2750A>T) n.2928T>A n.6951T>A c.2779T>A (p.Tyr927Asn) c.26461T>A (p.Tyr8821Asn) c.26449T>A (p.Tyr8817Asn) c.26440T>A (p.Tyr8814Asn) c.26419T>A (p.Tyr8807Asn) c.26410T>A (p.Tyr8804Asn) c.26404T>A (p.Tyr8802Asn) c.26392T>A (p.Tyr8798Asn) c.26389T>A (p.Tyr8797Asn) c.26350T>A (p.Tyr8784Asn) c.26335T>A (p.Tyr8779Asn) c.26320T>A (p.Tyr8774Asn) c.26308T>A (p.Tyr8770Asn) c.26305T>A (p.Tyr8769Asn) c.26302T>A (p.Tyr8768Asn) c.*125T>A (n.*125T>A) c.26458T>A (p.Tyr8820Asn) c.26446T>A (p.Tyr8816Asn) c.26296T>A (p.Tyr8766Asn) c.24736T>A (p.Tyr8246Asn) c.24229T>A (p.Tyr8077Asn) c.19696T>A (p.Tyr6566Asn) c.26434T>A (p.Tyr8812Asn) c.26383T>A (p.Tyr8795Asn) c.26347T>A (p.Tyr8783Asn) c.26194T>A (p.Tyr8732Asn) | |
| 6 | g.152122517G>A | CA4052588 | ESR1,SYNE1 | c.2847C>T (p.Asp949=) c.26313C>T (p.Asp8771=) c.26169C>T (p.Asp8723=) c.1656C>T c.2031C>T c.1898C>T c.2163C>T (n.2163C>T) c.25098C>T (p.Asp8366=) n.3061C>T c.5089C>T (n.5089C>T) n.10005C>T c.4192C>T (n.4192C>T) n.9897C>T c.851-2749G>A (n.851-2749G>A) n.2927C>T n.6950C>T c.2778C>T (p.Asp926=) c.26460C>T (p.Asp8820=) c.26448C>T (p.Asp8816=) c.26439C>T (p.Asp8813=) c.26418C>T (p.Asp8806=) c.26409C>T (p.Asp8803=) c.26403C>T (p.Asp8801=) c.26391C>T (p.Asp8797=) c.26388C>T (p.Asp8796=) c.26349C>T (p.Asp8783=) c.26334C>T (p.Asp8778=) c.26319C>T (p.Asp8773=) c.26307C>T (p.Asp8769=) c.26304C>T (p.Asp8768=) c.26301C>T (p.Asp8767=) c.*124C>T (n.*124C>T) c.26457C>T (p.Asp8819=) c.26445C>T (p.Asp8815=) c.26295C>T (p.Asp8765=) c.24735C>T (p.Asp8245=) c.24228C>T (p.Asp8076=) c.19695C>T (p.Asp6565=) c.26433C>T (p.Asp8811=) c.26382C>T (p.Asp8794=) c.26346C>T (p.Asp8782=) c.26193C>T (p.Asp8731=) | dbSNP ExAC gnomAD v4 |
| 6 | g.152122517G>C | CA366088717 | ESR1,SYNE1 | c.2847C>G (p.Asp949Glu) c.26313C>G (p.Asp8771Glu) c.26169C>G (p.Asp8723Glu) c.1656C>G c.2031C>G c.1898C>G c.2163C>G (n.2163C>G) c.25098C>G (p.Asp8366Glu) n.3061C>G c.5089C>G (n.5089C>G) n.10005C>G c.4192C>G (n.4192C>G) n.9897C>G c.851-2749G>C (n.851-2749G>C) n.2927C>G n.6950C>G c.2778C>G (p.Asp926Glu) c.26460C>G (p.Asp8820Glu) c.26448C>G (p.Asp8816Glu) c.26439C>G (p.Asp8813Glu) c.26418C>G (p.Asp8806Glu) c.26409C>G (p.Asp8803Glu) c.26403C>G (p.Asp8801Glu) c.26391C>G (p.Asp8797Glu) c.26388C>G (p.Asp8796Glu) c.26349C>G (p.Asp8783Glu) c.26334C>G (p.Asp8778Glu) c.26319C>G (p.Asp8773Glu) c.26307C>G (p.Asp8769Glu) c.26304C>G (p.Asp8768Glu) c.26301C>G (p.Asp8767Glu) c.*124C>G (n.*124C>G) c.26457C>G (p.Asp8819Glu) c.26445C>G (p.Asp8815Glu) c.26295C>G (p.Asp8765Glu) c.24735C>G (p.Asp8245Glu) c.24228C>G (p.Asp8076Glu) c.19695C>G (p.Asp6565Glu) c.26433C>G (p.Asp8811Glu) c.26382C>G (p.Asp8794Glu) c.26346C>G (p.Asp8782Glu) c.26193C>G (p.Asp8731Glu) | gnomAD v3 gnomAD v4 |
| 6 | g.152122517G= | CA1673188909 | ESR1,SYNE1 | c.2847C= (p.Asp949=) c.26313C= (p.Asp8771=) c.26169C= (p.Asp8723=) c.1656C= c.2031C= c.1898C= c.2163C= (n.2163C=) c.25098C= (p.Asp8366=) n.3061C= c.5089C= (n.5089C=) n.10005C= c.4192C= (n.4192C=) n.9897C= c.851-2749G= (n.851-2749G=) n.2927C= n.6950C= c.2778C= (p.Asp926=) c.26460C= (p.Asp8820=) c.26448C= (p.Asp8816=) c.26439C= (p.Asp8813=) c.26418C= (p.Asp8806=) c.26409C= (p.Asp8803=) c.26403C= (p.Asp8801=) c.26391C= (p.Asp8797=) c.26388C= (p.Asp8796=) c.26349C= (p.Asp8783=) c.26334C= (p.Asp8778=) c.26319C= (p.Asp8773=) c.26307C= (p.Asp8769=) c.26304C= (p.Asp8768=) c.26301C= (p.Asp8767=) c.*124C= (n.*124C=) c.26457C= (p.Asp8819=) c.26445C= (p.Asp8815=) c.26295C= (p.Asp8765=) c.24735C= (p.Asp8245=) c.24228C= (p.Asp8076=) c.19695C= (p.Asp6565=) c.26433C= (p.Asp8811=) c.26382C= (p.Asp8794=) c.26346C= (p.Asp8782=) c.26193C= (p.Asp8731=) | |
| 6 | g.152122517G>T | CA366088719 | ESR1,SYNE1 | c.2847C>A (p.Asp949Glu) c.26313C>A (p.Asp8771Glu) c.26169C>A (p.Asp8723Glu) c.1656C>A c.2031C>A c.1898C>A c.2163C>A (n.2163C>A) c.25098C>A (p.Asp8366Glu) n.3061C>A c.5089C>A (n.5089C>A) n.10005C>A c.4192C>A (n.4192C>A) n.9897C>A c.851-2749G>T (n.851-2749G>T) n.2927C>A n.6950C>A c.2778C>A (p.Asp926Glu) c.26460C>A (p.Asp8820Glu) c.26448C>A (p.Asp8816Glu) c.26439C>A (p.Asp8813Glu) c.26418C>A (p.Asp8806Glu) c.26409C>A (p.Asp8803Glu) c.26403C>A (p.Asp8801Glu) c.26391C>A (p.Asp8797Glu) c.26388C>A (p.Asp8796Glu) c.26349C>A (p.Asp8783Glu) c.26334C>A (p.Asp8778Glu) c.26319C>A (p.Asp8773Glu) c.26307C>A (p.Asp8769Glu) c.26304C>A (p.Asp8768Glu) c.26301C>A (p.Asp8767Glu) c.*124C>A (n.*124C>A) c.26457C>A (p.Asp8819Glu) c.26445C>A (p.Asp8815Glu) c.26295C>A (p.Asp8765Glu) c.24735C>A (p.Asp8245Glu) c.24228C>A (p.Asp8076Glu) c.19695C>A (p.Asp6565Glu) c.26433C>A (p.Asp8811Glu) c.26382C>A (p.Asp8794Glu) c.26346C>A (p.Asp8782Glu) c.26193C>A (p.Asp8731Glu) | |
| 6 | g.152122518T>A | CA366088724 | ESR1,SYNE1 | c.2846A>T (p.Asp949Val) c.26312A>T (p.Asp8771Val) c.26168A>T (p.Asp8723Val) c.1655A>T c.2030A>T c.1897A>T c.2162A>T (n.2162A>T) c.25097A>T (p.Asp8366Val) n.3060A>T c.5088A>T (n.5088A>T) n.10004A>T c.4191A>T (n.4191A>T) n.9896A>T c.851-2748T>A (n.851-2748T>A) n.2926A>T n.6949A>T c.2777A>T (p.Asp926Val) c.26459A>T (p.Asp8820Val) c.26447A>T (p.Asp8816Val) c.26438A>T (p.Asp8813Val) c.26417A>T (p.Asp8806Val) c.26408A>T (p.Asp8803Val) c.26402A>T (p.Asp8801Val) c.26390A>T (p.Asp8797Val) c.26387A>T (p.Asp8796Val) c.26348A>T (p.Asp8783Val) c.26333A>T (p.Asp8778Val) c.26318A>T (p.Asp8773Val) c.26306A>T (p.Asp8769Val) c.26303A>T (p.Asp8768Val) c.26300A>T (p.Asp8767Val) c.*123A>T (n.*123A>T) c.26456A>T (p.Asp8819Val) c.26444A>T (p.Asp8815Val) c.26294A>T (p.Asp8765Val) c.24734A>T (p.Asp8245Val) c.24227A>T (p.Asp8076Val) c.19694A>T (p.Asp6565Val) c.26432A>T (p.Asp8811Val) c.26381A>T (p.Asp8794Val) c.26345A>T (p.Asp8782Val) c.26192A>T (p.Asp8731Val) | |
| 6 | g.152122518T>C | CA366088720 | ESR1,SYNE1 | c.2846A>G (p.Asp949Gly) c.26312A>G (p.Asp8771Gly) c.26168A>G (p.Asp8723Gly) c.1655A>G c.2030A>G c.1897A>G c.2162A>G (n.2162A>G) c.25097A>G (p.Asp8366Gly) n.3060A>G c.5088A>G (n.5088A>G) n.10004A>G c.4191A>G (n.4191A>G) n.9896A>G c.851-2748T>C (n.851-2748T>C) n.2926A>G n.6949A>G c.2777A>G (p.Asp926Gly) c.26459A>G (p.Asp8820Gly) c.26447A>G (p.Asp8816Gly) c.26438A>G (p.Asp8813Gly) c.26417A>G (p.Asp8806Gly) c.26408A>G (p.Asp8803Gly) c.26402A>G (p.Asp8801Gly) c.26390A>G (p.Asp8797Gly) c.26387A>G (p.Asp8796Gly) c.26348A>G (p.Asp8783Gly) c.26333A>G (p.Asp8778Gly) c.26318A>G (p.Asp8773Gly) c.26306A>G (p.Asp8769Gly) c.26303A>G (p.Asp8768Gly) c.26300A>G (p.Asp8767Gly) c.*123A>G (n.*123A>G) c.26456A>G (p.Asp8819Gly) c.26444A>G (p.Asp8815Gly) c.26294A>G (p.Asp8765Gly) c.24734A>G (p.Asp8245Gly) c.24227A>G (p.Asp8076Gly) c.19694A>G (p.Asp6565Gly) c.26432A>G (p.Asp8811Gly) c.26381A>G (p.Asp8794Gly) c.26345A>G (p.Asp8782Gly) c.26192A>G (p.Asp8731Gly) | |
| 6 | g.152122518T>G | CA366088722 | ESR1,SYNE1 | c.2846A>C (p.Asp949Ala) c.26312A>C (p.Asp8771Ala) c.26168A>C (p.Asp8723Ala) c.1655A>C c.2030A>C c.1897A>C c.2162A>C (n.2162A>C) c.25097A>C (p.Asp8366Ala) n.3060A>C c.5088A>C (n.5088A>C) n.10004A>C c.4191A>C (n.4191A>C) n.9896A>C c.851-2748T>G (n.851-2748T>G) n.2926A>C n.6949A>C c.2777A>C (p.Asp926Ala) c.26459A>C (p.Asp8820Ala) c.26447A>C (p.Asp8816Ala) c.26438A>C (p.Asp8813Ala) c.26417A>C (p.Asp8806Ala) c.26408A>C (p.Asp8803Ala) c.26402A>C (p.Asp8801Ala) c.26390A>C (p.Asp8797Ala) c.26387A>C (p.Asp8796Ala) c.26348A>C (p.Asp8783Ala) c.26333A>C (p.Asp8778Ala) c.26318A>C (p.Asp8773Ala) c.26306A>C (p.Asp8769Ala) c.26303A>C (p.Asp8768Ala) c.26300A>C (p.Asp8767Ala) c.*123A>C (n.*123A>C) c.26456A>C (p.Asp8819Ala) c.26444A>C (p.Asp8815Ala) c.26294A>C (p.Asp8765Ala) c.24734A>C (p.Asp8245Ala) c.24227A>C (p.Asp8076Ala) c.19694A>C (p.Asp6565Ala) c.26432A>C (p.Asp8811Ala) c.26381A>C (p.Asp8794Ala) c.26345A>C (p.Asp8782Ala) c.26192A>C (p.Asp8731Ala) | |
| 6 | g.152122519C>A | CA366088726 | ESR1,SYNE1 | c.2845G>T (p.Asp949Tyr) c.26311G>T (p.Asp8771Tyr) c.26167G>T (p.Asp8723Tyr) c.1654G>T c.2029G>T c.1896G>T c.2161G>T (n.2161G>T) c.25096G>T (p.Asp8366Tyr) n.3059G>T c.5087G>T (n.5087G>T) n.10003G>T c.4190G>T (n.4190G>T) n.9895G>T c.851-2747C>A (n.851-2747C>A) n.2925G>T n.6948G>T c.2776G>T (p.Asp926Tyr) c.26458G>T (p.Asp8820Tyr) c.26446G>T (p.Asp8816Tyr) c.26437G>T (p.Asp8813Tyr) c.26416G>T (p.Asp8806Tyr) c.26407G>T (p.Asp8803Tyr) c.26401G>T (p.Asp8801Tyr) c.26389G>T (p.Asp8797Tyr) c.26386G>T (p.Asp8796Tyr) c.26347G>T (p.Asp8783Tyr) c.26332G>T (p.Asp8778Tyr) c.26317G>T (p.Asp8773Tyr) c.26305G>T (p.Asp8769Tyr) c.26302G>T (p.Asp8768Tyr) c.26299G>T (p.Asp8767Tyr) c.*122G>T (n.*122G>T) c.26455G>T (p.Asp8819Tyr) c.26443G>T (p.Asp8815Tyr) c.26293G>T (p.Asp8765Tyr) c.24733G>T (p.Asp8245Tyr) c.24226G>T (p.Asp8076Tyr) c.19693G>T (p.Asp6565Tyr) c.26431G>T (p.Asp8811Tyr) c.26380G>T (p.Asp8794Tyr) c.26344G>T (p.Asp8782Tyr) c.26191G>T (p.Asp8731Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122519C= | CA1673188912 | ESR1,SYNE1 | c.2845G= (p.Asp949=) c.26311G= (p.Asp8771=) c.26167G= (p.Asp8723=) c.1654G= c.2029G= c.1896G= c.2161G= (n.2161G=) c.25096G= (p.Asp8366=) n.3059G= c.5087G= (n.5087G=) n.10003G= c.4190G= (n.4190G=) n.9895G= c.851-2747C= (n.851-2747C=) n.2925G= n.6948G= c.2776G= (p.Asp926=) c.26458G= (p.Asp8820=) c.26446G= (p.Asp8816=) c.26437G= (p.Asp8813=) c.26416G= (p.Asp8806=) c.26407G= (p.Asp8803=) c.26401G= (p.Asp8801=) c.26389G= (p.Asp8797=) c.26386G= (p.Asp8796=) c.26347G= (p.Asp8783=) c.26332G= (p.Asp8778=) c.26317G= (p.Asp8773=) c.26305G= (p.Asp8769=) c.26302G= (p.Asp8768=) c.26299G= (p.Asp8767=) c.*122G= (n.*122G=) c.26455G= (p.Asp8819=) c.26443G= (p.Asp8815=) c.26293G= (p.Asp8765=) c.24733G= (p.Asp8245=) c.24226G= (p.Asp8076=) c.19693G= (p.Asp6565=) c.26431G= (p.Asp8811=) c.26380G= (p.Asp8794=) c.26344G= (p.Asp8782=) c.26191G= (p.Asp8731=) | |
| 6 | g.152122519C>G | CA366088728 | ESR1,SYNE1 | c.2845G>C (p.Asp949His) c.26311G>C (p.Asp8771His) c.26167G>C (p.Asp8723His) c.1654G>C c.2029G>C c.1896G>C c.2161G>C (n.2161G>C) c.25096G>C (p.Asp8366His) n.3059G>C c.5087G>C (n.5087G>C) n.10003G>C c.4190G>C (n.4190G>C) n.9895G>C c.851-2747C>G (n.851-2747C>G) n.2925G>C n.6948G>C c.2776G>C (p.Asp926His) c.26458G>C (p.Asp8820His) c.26446G>C (p.Asp8816His) c.26437G>C (p.Asp8813His) c.26416G>C (p.Asp8806His) c.26407G>C (p.Asp8803His) c.26401G>C (p.Asp8801His) c.26389G>C (p.Asp8797His) c.26386G>C (p.Asp8796His) c.26347G>C (p.Asp8783His) c.26332G>C (p.Asp8778His) c.26317G>C (p.Asp8773His) c.26305G>C (p.Asp8769His) c.26302G>C (p.Asp8768His) c.26299G>C (p.Asp8767His) c.*122G>C (n.*122G>C) c.26455G>C (p.Asp8819His) c.26443G>C (p.Asp8815His) c.26293G>C (p.Asp8765His) c.24733G>C (p.Asp8245His) c.24226G>C (p.Asp8076His) c.19693G>C (p.Asp6565His) c.26431G>C (p.Asp8811His) c.26380G>C (p.Asp8794His) c.26344G>C (p.Asp8782His) c.26191G>C (p.Asp8731His) | |
| 6 | g.152122519C>T | CA366088730 | ESR1,SYNE1 | c.2845G>A (p.Asp949Asn) c.26311G>A (p.Asp8771Asn) c.26167G>A (p.Asp8723Asn) c.1654G>A c.2029G>A c.1896G>A c.2161G>A (n.2161G>A) c.25096G>A (p.Asp8366Asn) n.3059G>A c.5087G>A (n.5087G>A) n.10003G>A c.4190G>A (n.4190G>A) n.9895G>A c.851-2747C>T (n.851-2747C>T) n.2925G>A n.6948G>A c.2776G>A (p.Asp926Asn) c.26458G>A (p.Asp8820Asn) c.26446G>A (p.Asp8816Asn) c.26437G>A (p.Asp8813Asn) c.26416G>A (p.Asp8806Asn) c.26407G>A (p.Asp8803Asn) c.26401G>A (p.Asp8801Asn) c.26389G>A (p.Asp8797Asn) c.26386G>A (p.Asp8796Asn) c.26347G>A (p.Asp8783Asn) c.26332G>A (p.Asp8778Asn) c.26317G>A (p.Asp8773Asn) c.26305G>A (p.Asp8769Asn) c.26302G>A (p.Asp8768Asn) c.26299G>A (p.Asp8767Asn) c.*122G>A (n.*122G>A) c.26455G>A (p.Asp8819Asn) c.26443G>A (p.Asp8815Asn) c.26293G>A (p.Asp8765Asn) c.24733G>A (p.Asp8245Asn) c.24226G>A (p.Asp8076Asn) c.19693G>A (p.Asp6565Asn) c.26431G>A (p.Asp8811Asn) c.26380G>A (p.Asp8794Asn) c.26344G>A (p.Asp8782Asn) c.26191G>A (p.Asp8731Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152122520T>A | CA366088732 | ESR1,SYNE1 | c.2844A>T (p.Glu948Asp) c.26310A>T (p.Glu8770Asp) c.26166A>T (p.Glu8722Asp) c.1653A>T c.2028A>T c.1895A>T c.2160A>T (n.2160A>T) c.25095A>T (p.Glu8365Asp) n.3058A>T c.5086A>T (n.5086A>T) n.10002A>T c.4189A>T (n.4189A>T) n.9894A>T c.851-2746T>A (n.851-2746T>A) n.2924A>T n.6947A>T c.2775A>T (p.Glu925Asp) c.26457A>T (p.Glu8819Asp) c.26445A>T (p.Glu8815Asp) c.26436A>T (p.Glu8812Asp) c.26415A>T (p.Glu8805Asp) c.26406A>T (p.Glu8802Asp) c.26400A>T (p.Glu8800Asp) c.26388A>T (p.Glu8796Asp) c.26385A>T (p.Glu8795Asp) c.26346A>T (p.Glu8782Asp) c.26331A>T (p.Glu8777Asp) c.26316A>T (p.Glu8772Asp) c.26304A>T (p.Glu8768Asp) c.26301A>T (p.Glu8767Asp) c.26298A>T (p.Glu8766Asp) c.*121A>T (n.*121A>T) c.26454A>T (p.Glu8818Asp) c.26442A>T (p.Glu8814Asp) c.26292A>T (p.Glu8764Asp) c.24732A>T (p.Glu8244Asp) c.24225A>T (p.Glu8075Asp) c.19692A>T (p.Glu6564Asp) c.26430A>T (p.Glu8810Asp) c.26379A>T (p.Glu8793Asp) c.26343A>T (p.Glu8781Asp) c.26190A>T (p.Glu8730Asp) | |
| 6 | g.152122520T>C | CA452969625 | ESR1,SYNE1 | c.2844A>G (p.Glu948=) c.26310A>G (p.Glu8770=) c.26166A>G (p.Glu8722=) c.1653A>G c.2028A>G c.1895A>G c.2160A>G (n.2160A>G) c.25095A>G (p.Glu8365=) n.3058A>G c.5086A>G (n.5086A>G) n.10002A>G c.4189A>G (n.4189A>G) n.9894A>G c.851-2746T>C (n.851-2746T>C) n.2924A>G n.6947A>G c.2775A>G (p.Glu925=) c.26457A>G (p.Glu8819=) c.26445A>G (p.Glu8815=) c.26436A>G (p.Glu8812=) c.26415A>G (p.Glu8805=) c.26406A>G (p.Glu8802=) c.26400A>G (p.Glu8800=) c.26388A>G (p.Glu8796=) c.26385A>G (p.Glu8795=) c.26346A>G (p.Glu8782=) c.26331A>G (p.Glu8777=) c.26316A>G (p.Glu8772=) c.26304A>G (p.Glu8768=) c.26301A>G (p.Glu8767=) c.26298A>G (p.Glu8766=) c.*121A>G (n.*121A>G) c.26454A>G (p.Glu8818=) c.26442A>G (p.Glu8814=) c.26292A>G (p.Glu8764=) c.24732A>G (p.Glu8244=) c.24225A>G (p.Glu8075=) c.19692A>G (p.Glu6564=) c.26430A>G (p.Glu8810=) c.26379A>G (p.Glu8793=) c.26343A>G (p.Glu8781=) c.26190A>G (p.Glu8730=) | |
| 6 | g.152122520T>G | CA366088736 | ESR1,SYNE1 | c.2844A>C (p.Glu948Asp) c.26310A>C (p.Glu8770Asp) c.26166A>C (p.Glu8722Asp) c.1653A>C c.2028A>C c.1895A>C c.2160A>C (n.2160A>C) c.25095A>C (p.Glu8365Asp) n.3058A>C c.5086A>C (n.5086A>C) n.10002A>C c.4189A>C (n.4189A>C) n.9894A>C c.851-2746T>G (n.851-2746T>G) n.2924A>C n.6947A>C c.2775A>C (p.Glu925Asp) c.26457A>C (p.Glu8819Asp) c.26445A>C (p.Glu8815Asp) c.26436A>C (p.Glu8812Asp) c.26415A>C (p.Glu8805Asp) c.26406A>C (p.Glu8802Asp) c.26400A>C (p.Glu8800Asp) c.26388A>C (p.Glu8796Asp) c.26385A>C (p.Glu8795Asp) c.26346A>C (p.Glu8782Asp) c.26331A>C (p.Glu8777Asp) c.26316A>C (p.Glu8772Asp) c.26304A>C (p.Glu8768Asp) c.26301A>C (p.Glu8767Asp) c.26298A>C (p.Glu8766Asp) c.*121A>C (n.*121A>C) c.26454A>C (p.Glu8818Asp) c.26442A>C (p.Glu8814Asp) c.26292A>C (p.Glu8764Asp) c.24732A>C (p.Glu8244Asp) c.24225A>C (p.Glu8075Asp) c.19692A>C (p.Glu6564Asp) c.26430A>C (p.Glu8810Asp) c.26379A>C (p.Glu8793Asp) c.26343A>C (p.Glu8781Asp) c.26190A>C (p.Glu8730Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122521T>A | CA366088740 | ESR1,SYNE1 | c.2843A>T (p.Glu948Val) c.26309A>T (p.Glu8770Val) c.26165A>T (p.Glu8722Val) c.1652A>T c.2027A>T c.1894A>T c.2159A>T (n.2159A>T) c.25094A>T (p.Glu8365Val) n.3057A>T c.5085A>T (n.5085A>T) n.10001A>T c.4188A>T (n.4188A>T) n.9893A>T c.851-2745T>A (n.851-2745T>A) n.2923A>T n.6946A>T c.2774A>T (p.Glu925Val) c.26456A>T (p.Glu8819Val) c.26444A>T (p.Glu8815Val) c.26435A>T (p.Glu8812Val) c.26414A>T (p.Glu8805Val) c.26405A>T (p.Glu8802Val) c.26399A>T (p.Glu8800Val) c.26387A>T (p.Glu8796Val) c.26384A>T (p.Glu8795Val) c.26345A>T (p.Glu8782Val) c.26330A>T (p.Glu8777Val) c.26315A>T (p.Glu8772Val) c.26303A>T (p.Glu8768Val) c.26300A>T (p.Glu8767Val) c.26297A>T (p.Glu8766Val) c.*120A>T (n.*120A>T) c.26453A>T (p.Glu8818Val) c.26441A>T (p.Glu8814Val) c.26291A>T (p.Glu8764Val) c.24731A>T (p.Glu8244Val) c.24224A>T (p.Glu8075Val) c.19691A>T (p.Glu6564Val) c.26429A>T (p.Glu8810Val) c.26378A>T (p.Glu8793Val) c.26342A>T (p.Glu8781Val) c.26189A>T (p.Glu8730Val) | |
| 6 | g.152122521T>C | CA366088742 | ESR1,SYNE1 | c.2843A>G (p.Glu948Gly) c.26309A>G (p.Glu8770Gly) c.26165A>G (p.Glu8722Gly) c.1652A>G c.2027A>G c.1894A>G c.2159A>G (n.2159A>G) c.25094A>G (p.Glu8365Gly) n.3057A>G c.5085A>G (n.5085A>G) n.10001A>G c.4188A>G (n.4188A>G) n.9893A>G c.851-2745T>C (n.851-2745T>C) n.2923A>G n.6946A>G c.2774A>G (p.Glu925Gly) c.26456A>G (p.Glu8819Gly) c.26444A>G (p.Glu8815Gly) c.26435A>G (p.Glu8812Gly) c.26414A>G (p.Glu8805Gly) c.26405A>G (p.Glu8802Gly) c.26399A>G (p.Glu8800Gly) c.26387A>G (p.Glu8796Gly) c.26384A>G (p.Glu8795Gly) c.26345A>G (p.Glu8782Gly) c.26330A>G (p.Glu8777Gly) c.26315A>G (p.Glu8772Gly) c.26303A>G (p.Glu8768Gly) c.26300A>G (p.Glu8767Gly) c.26297A>G (p.Glu8766Gly) c.*120A>G (n.*120A>G) c.26453A>G (p.Glu8818Gly) c.26441A>G (p.Glu8814Gly) c.26291A>G (p.Glu8764Gly) c.24731A>G (p.Glu8244Gly) c.24224A>G (p.Glu8075Gly) c.19691A>G (p.Glu6564Gly) c.26429A>G (p.Glu8810Gly) c.26378A>G (p.Glu8793Gly) c.26342A>G (p.Glu8781Gly) c.26189A>G (p.Glu8730Gly) | |
| 6 | g.152122521T>G | CA366088743 | ESR1,SYNE1 | c.2843A>C (p.Glu948Ala) c.26309A>C (p.Glu8770Ala) c.26165A>C (p.Glu8722Ala) c.1652A>C c.2027A>C c.1894A>C c.2159A>C (n.2159A>C) c.25094A>C (p.Glu8365Ala) n.3057A>C c.5085A>C (n.5085A>C) n.10001A>C c.4188A>C (n.4188A>C) n.9893A>C c.851-2745T>G (n.851-2745T>G) n.2923A>C n.6946A>C c.2774A>C (p.Glu925Ala) c.26456A>C (p.Glu8819Ala) c.26444A>C (p.Glu8815Ala) c.26435A>C (p.Glu8812Ala) c.26414A>C (p.Glu8805Ala) c.26405A>C (p.Glu8802Ala) c.26399A>C (p.Glu8800Ala) c.26387A>C (p.Glu8796Ala) c.26384A>C (p.Glu8795Ala) c.26345A>C (p.Glu8782Ala) c.26330A>C (p.Glu8777Ala) c.26315A>C (p.Glu8772Ala) c.26303A>C (p.Glu8768Ala) c.26300A>C (p.Glu8767Ala) c.26297A>C (p.Glu8766Ala) c.*120A>C (n.*120A>C) c.26453A>C (p.Glu8818Ala) c.26441A>C (p.Glu8814Ala) c.26291A>C (p.Glu8764Ala) c.24731A>C (p.Glu8244Ala) c.24224A>C (p.Glu8075Ala) c.19691A>C (p.Glu6564Ala) c.26429A>C (p.Glu8810Ala) c.26378A>C (p.Glu8793Ala) c.26342A>C (p.Glu8781Ala) c.26189A>C (p.Glu8730Ala) | |
| 6 | g.152122522C>A | CA366088745 | ESR1,SYNE1 | c.2842G>T (p.Glu948Ter) c.26308G>T (p.Glu8770Ter) c.26164G>T (p.Glu8722Ter) c.1651G>T c.2026G>T c.1893G>T c.2158G>T (n.2158G>T) c.25093G>T (p.Glu8365Ter) n.3056G>T c.5084G>T (n.5084G>T) n.10000G>T c.4187G>T (n.4187G>T) n.9892G>T c.851-2744C>A (n.851-2744C>A) n.2922G>T n.6945G>T c.2773G>T (p.Glu925Ter) c.26455G>T (p.Glu8819Ter) c.26443G>T (p.Glu8815Ter) c.26434G>T (p.Glu8812Ter) c.26413G>T (p.Glu8805Ter) c.26404G>T (p.Glu8802Ter) c.26398G>T (p.Glu8800Ter) c.26386G>T (p.Glu8796Ter) c.26383G>T (p.Glu8795Ter) c.26344G>T (p.Glu8782Ter) c.26329G>T (p.Glu8777Ter) c.26314G>T (p.Glu8772Ter) c.26302G>T (p.Glu8768Ter) c.26299G>T (p.Glu8767Ter) c.26296G>T (p.Glu8766Ter) c.*119G>T (n.*119G>T) c.26452G>T (p.Glu8818Ter) c.26440G>T (p.Glu8814Ter) c.26290G>T (p.Glu8764Ter) c.24730G>T (p.Glu8244Ter) c.24223G>T (p.Glu8075Ter) c.19690G>T (p.Glu6564Ter) c.26428G>T (p.Glu8810Ter) c.26377G>T (p.Glu8793Ter) c.26341G>T (p.Glu8781Ter) c.26188G>T (p.Glu8730Ter) | |
| 6 | g.152122522C>G | CA366088747 | ESR1,SYNE1 | c.2842G>C (p.Glu948Gln) c.26308G>C (p.Glu8770Gln) c.26164G>C (p.Glu8722Gln) c.1651G>C c.2026G>C c.1893G>C c.2158G>C (n.2158G>C) c.25093G>C (p.Glu8365Gln) n.3056G>C c.5084G>C (n.5084G>C) n.10000G>C c.4187G>C (n.4187G>C) n.9892G>C c.851-2744C>G (n.851-2744C>G) n.2922G>C n.6945G>C c.2773G>C (p.Glu925Gln) c.26455G>C (p.Glu8819Gln) c.26443G>C (p.Glu8815Gln) c.26434G>C (p.Glu8812Gln) c.26413G>C (p.Glu8805Gln) c.26404G>C (p.Glu8802Gln) c.26398G>C (p.Glu8800Gln) c.26386G>C (p.Glu8796Gln) c.26383G>C (p.Glu8795Gln) c.26344G>C (p.Glu8782Gln) c.26329G>C (p.Glu8777Gln) c.26314G>C (p.Glu8772Gln) c.26302G>C (p.Glu8768Gln) c.26299G>C (p.Glu8767Gln) c.26296G>C (p.Glu8766Gln) c.*119G>C (n.*119G>C) c.26452G>C (p.Glu8818Gln) c.26440G>C (p.Glu8814Gln) c.26290G>C (p.Glu8764Gln) c.24730G>C (p.Glu8244Gln) c.24223G>C (p.Glu8075Gln) c.19690G>C (p.Glu6564Gln) c.26428G>C (p.Glu8810Gln) c.26377G>C (p.Glu8793Gln) c.26341G>C (p.Glu8781Gln) c.26188G>C (p.Glu8730Gln) | |
| 6 | g.152122522C>T | CA366088749 | ESR1,SYNE1 | c.2842G>A (p.Glu948Lys) c.26308G>A (p.Glu8770Lys) c.26164G>A (p.Glu8722Lys) c.1651G>A c.2026G>A c.1893G>A c.2158G>A (n.2158G>A) c.25093G>A (p.Glu8365Lys) n.3056G>A c.5084G>A (n.5084G>A) n.10000G>A c.4187G>A (n.4187G>A) n.9892G>A c.851-2744C>T (n.851-2744C>T) n.2922G>A n.6945G>A c.2773G>A (p.Glu925Lys) c.26455G>A (p.Glu8819Lys) c.26443G>A (p.Glu8815Lys) c.26434G>A (p.Glu8812Lys) c.26413G>A (p.Glu8805Lys) c.26404G>A (p.Glu8802Lys) c.26398G>A (p.Glu8800Lys) c.26386G>A (p.Glu8796Lys) c.26383G>A (p.Glu8795Lys) c.26344G>A (p.Glu8782Lys) c.26329G>A (p.Glu8777Lys) c.26314G>A (p.Glu8772Lys) c.26302G>A (p.Glu8768Lys) c.26299G>A (p.Glu8767Lys) c.26296G>A (p.Glu8766Lys) c.*119G>A (n.*119G>A) c.26452G>A (p.Glu8818Lys) c.26440G>A (p.Glu8814Lys) c.26290G>A (p.Glu8764Lys) c.24730G>A (p.Glu8244Lys) c.24223G>A (p.Glu8075Lys) c.19690G>A (p.Glu6564Lys) c.26428G>A (p.Glu8810Lys) c.26377G>A (p.Glu8793Lys) c.26341G>A (p.Glu8781Lys) c.26188G>A (p.Glu8730Lys) | ClinVar |
| 6 | g.152122523C>A | CA366088754 | ESR1,SYNE1 | c.2841G>T (p.Glu947Asp) c.26307G>T (p.Glu8769Asp) c.26163G>T (p.Glu8721Asp) c.1650G>T c.2025G>T c.1892G>T c.2157G>T (n.2157G>T) c.25092G>T (p.Glu8364Asp) n.3055G>T c.5083G>T (n.5083G>T) n.9999G>T c.4186G>T (n.4186G>T) n.9891G>T c.851-2743C>A (n.851-2743C>A) n.2921G>T n.6944G>T c.2772G>T (p.Glu924Asp) c.26454G>T (p.Glu8818Asp) c.26442G>T (p.Glu8814Asp) c.26433G>T (p.Glu8811Asp) c.26412G>T (p.Glu8804Asp) c.26403G>T (p.Glu8801Asp) c.26397G>T (p.Glu8799Asp) c.26385G>T (p.Glu8795Asp) c.26382G>T (p.Glu8794Asp) c.26343G>T (p.Glu8781Asp) c.26328G>T (p.Glu8776Asp) c.26313G>T (p.Glu8771Asp) c.26301G>T (p.Glu8767Asp) c.26298G>T (p.Glu8766Asp) c.26295G>T (p.Glu8765Asp) c.*118G>T (n.*118G>T) c.26451G>T (p.Glu8817Asp) c.26439G>T (p.Glu8813Asp) c.26289G>T (p.Glu8763Asp) c.24729G>T (p.Glu8243Asp) c.24222G>T (p.Glu8074Asp) c.19689G>T (p.Glu6563Asp) c.26427G>T (p.Glu8809Asp) c.26376G>T (p.Glu8792Asp) c.26340G>T (p.Glu8780Asp) c.26187G>T (p.Glu8729Asp) | |
| 6 | g.152122523C= | CA1673188916 | ESR1,SYNE1 | c.2841G= (p.Glu947=) c.26307G= (p.Glu8769=) c.26163G= (p.Glu8721=) c.1650G= c.2025G= c.1892G= c.2157G= (n.2157G=) c.25092G= (p.Glu8364=) n.3055G= c.5083G= (n.5083G=) n.9999G= c.4186G= (n.4186G=) n.9891G= c.851-2743C= (n.851-2743C=) n.2921G= n.6944G= c.2772G= (p.Glu924=) c.26454G= (p.Glu8818=) c.26442G= (p.Glu8814=) c.26433G= (p.Glu8811=) c.26412G= (p.Glu8804=) c.26403G= (p.Glu8801=) c.26397G= (p.Glu8799=) c.26385G= (p.Glu8795=) c.26382G= (p.Glu8794=) c.26343G= (p.Glu8781=) c.26328G= (p.Glu8776=) c.26313G= (p.Glu8771=) c.26301G= (p.Glu8767=) c.26298G= (p.Glu8766=) c.26295G= (p.Glu8765=) c.*118G= (n.*118G=) c.26451G= (p.Glu8817=) c.26439G= (p.Glu8813=) c.26289G= (p.Glu8763=) c.24729G= (p.Glu8243=) c.24222G= (p.Glu8074=) c.19689G= (p.Glu6563=) c.26427G= (p.Glu8809=) c.26376G= (p.Glu8792=) c.26340G= (p.Glu8780=) c.26187G= (p.Glu8729=) | |
| 6 | g.152122523C>G | CA366088752 | ESR1,SYNE1 | c.2841G>C (p.Glu947Asp) c.26307G>C (p.Glu8769Asp) c.26163G>C (p.Glu8721Asp) c.1650G>C c.2025G>C c.1892G>C c.2157G>C (n.2157G>C) c.25092G>C (p.Glu8364Asp) n.3055G>C c.5083G>C (n.5083G>C) n.9999G>C c.4186G>C (n.4186G>C) n.9891G>C c.851-2743C>G (n.851-2743C>G) n.2921G>C n.6944G>C c.2772G>C (p.Glu924Asp) c.26454G>C (p.Glu8818Asp) c.26442G>C (p.Glu8814Asp) c.26433G>C (p.Glu8811Asp) c.26412G>C (p.Glu8804Asp) c.26403G>C (p.Glu8801Asp) c.26397G>C (p.Glu8799Asp) c.26385G>C (p.Glu8795Asp) c.26382G>C (p.Glu8794Asp) c.26343G>C (p.Glu8781Asp) c.26328G>C (p.Glu8776Asp) c.26313G>C (p.Glu8771Asp) c.26301G>C (p.Glu8767Asp) c.26298G>C (p.Glu8766Asp) c.26295G>C (p.Glu8765Asp) c.*118G>C (n.*118G>C) c.26451G>C (p.Glu8817Asp) c.26439G>C (p.Glu8813Asp) c.26289G>C (p.Glu8763Asp) c.24729G>C (p.Glu8243Asp) c.24222G>C (p.Glu8074Asp) c.19689G>C (p.Glu6563Asp) c.26427G>C (p.Glu8809Asp) c.26376G>C (p.Glu8792Asp) c.26340G>C (p.Glu8780Asp) c.26187G>C (p.Glu8729Asp) | |
| 6 | g.152122523C>T | CA4052589 | ESR1,SYNE1 | c.2841G>A (p.Glu947=) c.26307G>A (p.Glu8769=) c.26163G>A (p.Glu8721=) c.1650G>A c.2025G>A c.1892G>A c.2157G>A (n.2157G>A) c.25092G>A (p.Glu8364=) n.3055G>A c.5083G>A (n.5083G>A) n.9999G>A c.4186G>A (n.4186G>A) n.9891G>A c.851-2743C>T (n.851-2743C>T) n.2921G>A n.6944G>A c.2772G>A (p.Glu924=) c.26454G>A (p.Glu8818=) c.26442G>A (p.Glu8814=) c.26433G>A (p.Glu8811=) c.26412G>A (p.Glu8804=) c.26403G>A (p.Glu8801=) c.26397G>A (p.Glu8799=) c.26385G>A (p.Glu8795=) c.26382G>A (p.Glu8794=) c.26343G>A (p.Glu8781=) c.26328G>A (p.Glu8776=) c.26313G>A (p.Glu8771=) c.26301G>A (p.Glu8767=) c.26298G>A (p.Glu8766=) c.26295G>A (p.Glu8765=) c.*118G>A (n.*118G>A) c.26451G>A (p.Glu8817=) c.26439G>A (p.Glu8813=) c.26289G>A (p.Glu8763=) c.24729G>A (p.Glu8243=) c.24222G>A (p.Glu8074=) c.19689G>A (p.Glu6563=) c.26427G>A (p.Glu8809=) c.26376G>A (p.Glu8792=) c.26340G>A (p.Glu8780=) c.26187G>A (p.Glu8729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152122525_152122526del | CA645564552 | ESR1,SYNE1 | c.2840_2841del (p.Glu947GlyfsTer?) c.26306_26307del (p.Glu8769GlyfsTer?) c.26162_26163del (p.Glu8721GlyfsTer?) c.1649_1650del c.2024_2025del c.1891_1892del c.2156_2157del (n.2156_2157del) c.25091_25092del (p.Glu8364GlyfsTer?) n.3054_3055del c.5082_5083del (n.5082_5083del) n.9998_9999del c.4185_4186del (n.4185_4186del) n.9890_9891del c.851-2741_851-2740del (n.851-2741_851-2740del) n.2920_2921del n.6943_6944del c.2771_2772del (p.Glu924GlyfsTer?) c.26453_26454del (p.Glu8818GlyfsTer?) c.26441_26442del (p.Glu8814GlyfsTer?) c.26432_26433del (p.Glu8811GlyfsTer?) c.26411_26412del (p.Glu8804GlyfsTer?) c.26402_26403del (p.Glu8801GlyfsTer?) c.26396_26397del (p.Glu8799GlyfsTer?) c.26384_26385del (p.Glu8795GlyfsTer?) c.26381_26382del (p.Glu8794GlyfsTer?) c.26342_26343del (p.Glu8781GlyfsTer?) c.26327_26328del (p.Glu8776GlyfsTer?) c.26312_26313del (p.Glu8771GlyfsTer?) c.26300_26301del (p.Glu8767GlyfsTer?) c.26297_26298del (p.Glu8766GlyfsTer?) c.26294_26295del (p.Glu8765GlyfsTer?) c.*117_*118del (n.*117_*118del) c.26450_26451del (p.Glu8817GlyfsTer?) c.26438_26439del (p.Glu8813GlyfsTer?) c.26288_26289del (p.Glu8763GlyfsTer?) c.24728_24729del (p.Glu8243GlyfsTer?) c.24221_24222del (p.Glu8074GlyfsTer?) c.19688_19689del (p.Glu6563GlyfsTer?) c.26426_26427del (p.Glu8809GlyfsTer?) c.26375_26376del (p.Glu8792GlyfsTer?) c.26339_26340del (p.Glu8780GlyfsTer?) c.26186_26187del (p.Glu8729GlyfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122524T>A | CA366088757 | ESR1,SYNE1 | c.2840A>T (p.Glu947Val) c.26306A>T (p.Glu8769Val) c.26162A>T (p.Glu8721Val) c.1649A>T c.2024A>T c.1891A>T c.2156A>T (n.2156A>T) c.25091A>T (p.Glu8364Val) n.3054A>T c.5082A>T (n.5082A>T) n.9998A>T c.4185A>T (n.4185A>T) n.9890A>T c.851-2742T>A (n.851-2742T>A) n.2920A>T n.6943A>T c.2771A>T (p.Glu924Val) c.26453A>T (p.Glu8818Val) c.26441A>T (p.Glu8814Val) c.26432A>T (p.Glu8811Val) c.26411A>T (p.Glu8804Val) c.26402A>T (p.Glu8801Val) c.26396A>T (p.Glu8799Val) c.26384A>T (p.Glu8795Val) c.26381A>T (p.Glu8794Val) c.26342A>T (p.Glu8781Val) c.26327A>T (p.Glu8776Val) c.26312A>T (p.Glu8771Val) c.26300A>T (p.Glu8767Val) c.26297A>T (p.Glu8766Val) c.26294A>T (p.Glu8765Val) c.*117A>T (n.*117A>T) c.26450A>T (p.Glu8817Val) c.26438A>T (p.Glu8813Val) c.26288A>T (p.Glu8763Val) c.24728A>T (p.Glu8243Val) c.24221A>T (p.Glu8074Val) c.19688A>T (p.Glu6563Val) c.26426A>T (p.Glu8809Val) c.26375A>T (p.Glu8792Val) c.26339A>T (p.Glu8780Val) c.26186A>T (p.Glu8729Val) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122524T>C | CA366088761 | ESR1,SYNE1 | c.2840A>G (p.Glu947Gly) c.26306A>G (p.Glu8769Gly) c.26162A>G (p.Glu8721Gly) c.1649A>G c.2024A>G c.1891A>G c.2156A>G (n.2156A>G) c.25091A>G (p.Glu8364Gly) n.3054A>G c.5082A>G (n.5082A>G) n.9998A>G c.4185A>G (n.4185A>G) n.9890A>G c.851-2742T>C (n.851-2742T>C) n.2920A>G n.6943A>G c.2771A>G (p.Glu924Gly) c.26453A>G (p.Glu8818Gly) c.26441A>G (p.Glu8814Gly) c.26432A>G (p.Glu8811Gly) c.26411A>G (p.Glu8804Gly) c.26402A>G (p.Glu8801Gly) c.26396A>G (p.Glu8799Gly) c.26384A>G (p.Glu8795Gly) c.26381A>G (p.Glu8794Gly) c.26342A>G (p.Glu8781Gly) c.26327A>G (p.Glu8776Gly) c.26312A>G (p.Glu8771Gly) c.26300A>G (p.Glu8767Gly) c.26297A>G (p.Glu8766Gly) c.26294A>G (p.Glu8765Gly) c.*117A>G (n.*117A>G) c.26450A>G (p.Glu8817Gly) c.26438A>G (p.Glu8813Gly) c.26288A>G (p.Glu8763Gly) c.24728A>G (p.Glu8243Gly) c.24221A>G (p.Glu8074Gly) c.19688A>G (p.Glu6563Gly) c.26426A>G (p.Glu8809Gly) c.26375A>G (p.Glu8792Gly) c.26339A>G (p.Glu8780Gly) c.26186A>G (p.Glu8729Gly) | |
| 6 | g.152122524T>G | CA366088759 | ESR1,SYNE1 | c.2840A>C (p.Glu947Ala) c.26306A>C (p.Glu8769Ala) c.26162A>C (p.Glu8721Ala) c.1649A>C c.2024A>C c.1891A>C c.2156A>C (n.2156A>C) c.25091A>C (p.Glu8364Ala) n.3054A>C c.5082A>C (n.5082A>C) n.9998A>C c.4185A>C (n.4185A>C) n.9890A>C c.851-2742T>G (n.851-2742T>G) n.2920A>C n.6943A>C c.2771A>C (p.Glu924Ala) c.26453A>C (p.Glu8818Ala) c.26441A>C (p.Glu8814Ala) c.26432A>C (p.Glu8811Ala) c.26411A>C (p.Glu8804Ala) c.26402A>C (p.Glu8801Ala) c.26396A>C (p.Glu8799Ala) c.26384A>C (p.Glu8795Ala) c.26381A>C (p.Glu8794Ala) c.26342A>C (p.Glu8781Ala) c.26327A>C (p.Glu8776Ala) c.26312A>C (p.Glu8771Ala) c.26300A>C (p.Glu8767Ala) c.26297A>C (p.Glu8766Ala) c.26294A>C (p.Glu8765Ala) c.*117A>C (n.*117A>C) c.26450A>C (p.Glu8817Ala) c.26438A>C (p.Glu8813Ala) c.26288A>C (p.Glu8763Ala) c.24728A>C (p.Glu8243Ala) c.24221A>C (p.Glu8074Ala) c.19688A>C (p.Glu6563Ala) c.26426A>C (p.Glu8809Ala) c.26375A>C (p.Glu8792Ala) c.26339A>C (p.Glu8780Ala) c.26186A>C (p.Glu8729Ala) | |
| 6 | g.152122525C>A | CA366088764 | ESR1,SYNE1 | c.2839G>T (p.Glu947Ter) c.26305G>T (p.Glu8769Ter) c.26161G>T (p.Glu8721Ter) c.1648G>T c.2023G>T c.1890G>T c.2155G>T (n.2155G>T) c.25090G>T (p.Glu8364Ter) n.3053G>T c.5081G>T (n.5081G>T) n.9997G>T c.4184G>T (n.4184G>T) n.9889G>T c.851-2741C>A (n.851-2741C>A) n.2919G>T n.6942G>T c.2770G>T (p.Glu924Ter) c.26452G>T (p.Glu8818Ter) c.26440G>T (p.Glu8814Ter) c.26431G>T (p.Glu8811Ter) c.26410G>T (p.Glu8804Ter) c.26401G>T (p.Glu8801Ter) c.26395G>T (p.Glu8799Ter) c.26383G>T (p.Glu8795Ter) c.26380G>T (p.Glu8794Ter) c.26341G>T (p.Glu8781Ter) c.26326G>T (p.Glu8776Ter) c.26311G>T (p.Glu8771Ter) c.26299G>T (p.Glu8767Ter) c.26296G>T (p.Glu8766Ter) c.26293G>T (p.Glu8765Ter) c.*116G>T (n.*116G>T) c.26449G>T (p.Glu8817Ter) c.26437G>T (p.Glu8813Ter) c.26287G>T (p.Glu8763Ter) c.24727G>T (p.Glu8243Ter) c.24220G>T (p.Glu8074Ter) c.19687G>T (p.Glu6563Ter) c.26425G>T (p.Glu8809Ter) c.26374G>T (p.Glu8792Ter) c.26338G>T (p.Glu8780Ter) c.26185G>T (p.Glu8729Ter) | |
| 6 | g.152122525C= | CA1673188927 | ESR1,SYNE1 | c.2839G= (p.Glu947=) c.26305G= (p.Glu8769=) c.26161G= (p.Glu8721=) c.1648G= c.2023G= c.1890G= c.2155G= (n.2155G=) c.25090G= (p.Glu8364=) n.3053G= c.5081G= (n.5081G=) n.9997G= c.4184G= (n.4184G=) n.9889G= c.851-2741C= (n.851-2741C=) n.2919G= n.6942G= c.2770G= (p.Glu924=) c.26452G= (p.Glu8818=) c.26440G= (p.Glu8814=) c.26431G= (p.Glu8811=) c.26410G= (p.Glu8804=) c.26401G= (p.Glu8801=) c.26395G= (p.Glu8799=) c.26383G= (p.Glu8795=) c.26380G= (p.Glu8794=) c.26341G= (p.Glu8781=) c.26326G= (p.Glu8776=) c.26311G= (p.Glu8771=) c.26299G= (p.Glu8767=) c.26296G= (p.Glu8766=) c.26293G= (p.Glu8765=) c.*116G= (n.*116G=) c.26449G= (p.Glu8817=) c.26437G= (p.Glu8813=) c.26287G= (p.Glu8763=) c.24727G= (p.Glu8243=) c.24220G= (p.Glu8074=) c.19687G= (p.Glu6563=) c.26425G= (p.Glu8809=) c.26374G= (p.Glu8792=) c.26338G= (p.Glu8780=) c.26185G= (p.Glu8729=) | |
| 6 | g.152122525C>G | CA366088765 | ESR1,SYNE1 | c.2839G>C (p.Glu947Gln) c.26305G>C (p.Glu8769Gln) c.26161G>C (p.Glu8721Gln) c.1648G>C c.2023G>C c.1890G>C c.2155G>C (n.2155G>C) c.25090G>C (p.Glu8364Gln) n.3053G>C c.5081G>C (n.5081G>C) n.9997G>C c.4184G>C (n.4184G>C) n.9889G>C c.851-2741C>G (n.851-2741C>G) n.2919G>C n.6942G>C c.2770G>C (p.Glu924Gln) c.26452G>C (p.Glu8818Gln) c.26440G>C (p.Glu8814Gln) c.26431G>C (p.Glu8811Gln) c.26410G>C (p.Glu8804Gln) c.26401G>C (p.Glu8801Gln) c.26395G>C (p.Glu8799Gln) c.26383G>C (p.Glu8795Gln) c.26380G>C (p.Glu8794Gln) c.26341G>C (p.Glu8781Gln) c.26326G>C (p.Glu8776Gln) c.26311G>C (p.Glu8771Gln) c.26299G>C (p.Glu8767Gln) c.26296G>C (p.Glu8766Gln) c.26293G>C (p.Glu8765Gln) c.*116G>C (n.*116G>C) c.26449G>C (p.Glu8817Gln) c.26437G>C (p.Glu8813Gln) c.26287G>C (p.Glu8763Gln) c.24727G>C (p.Glu8243Gln) c.24220G>C (p.Glu8074Gln) c.19687G>C (p.Glu6563Gln) c.26425G>C (p.Glu8809Gln) c.26374G>C (p.Glu8792Gln) c.26338G>C (p.Glu8780Gln) c.26185G>C (p.Glu8729Gln) |