Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152122441G>ACA4052572ESR1,SYNE1c.2923C>T (p.Leu975Phe)
c.26389C>T (p.Leu8797Phe)
c.26245C>T (p.Leu8749Phe)
c.1732C>T
c.2107C>T
c.1974C>T
c.2239C>T (n.2239C>T)
c.25174C>T (p.Leu8392Phe)
n.3137C>T
c.5165C>T (n.5165C>T)
n.10081C>T
c.4268C>T (n.4268C>T)
n.9973C>T
c.851-2825G>A (n.851-2825G>A)
n.3003C>T
n.7026C>T
c.2854C>T (p.Leu952Phe)
c.26536C>T (p.Leu8846Phe)
c.26524C>T (p.Leu8842Phe)
c.26515C>T (p.Leu8839Phe)
c.26494C>T (p.Leu8832Phe)
c.26485C>T (p.Leu8829Phe)
c.26479C>T (p.Leu8827Phe)
c.26467C>T (p.Leu8823Phe)
c.26464C>T (p.Leu8822Phe)
c.26425C>T (p.Leu8809Phe)
c.26410C>T (p.Leu8804Phe)
c.26395C>T (p.Leu8799Phe)
c.26383C>T (p.Leu8795Phe)
c.26380C>T (p.Leu8794Phe)
c.26377C>T (p.Leu8793Phe)
c.*200C>T (n.*200C>T)
c.26533C>T (p.Leu8845Phe)
c.26521C>T (p.Leu8841Phe)
c.26371C>T (p.Leu8791Phe)
c.24811C>T (p.Leu8271Phe)
c.24304C>T (p.Leu8102Phe)
c.19771C>T (p.Leu6591Phe)
c.26509C>T (p.Leu8837Phe)
c.26458C>T (p.Leu8820Phe)
c.26422C>T (p.Leu8808Phe)
c.26269C>T (p.Leu8757Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122441G>CCA366088417ESR1,SYNE1c.2923C>G (p.Leu975Val)
c.26389C>G (p.Leu8797Val)
c.26245C>G (p.Leu8749Val)
c.1732C>G
c.2107C>G
c.1974C>G
c.2239C>G (n.2239C>G)
c.25174C>G (p.Leu8392Val)
n.3137C>G
c.5165C>G (n.5165C>G)
n.10081C>G
c.4268C>G (n.4268C>G)
n.9973C>G
c.851-2825G>C (n.851-2825G>C)
n.3003C>G
n.7026C>G
c.2854C>G (p.Leu952Val)
c.26536C>G (p.Leu8846Val)
c.26524C>G (p.Leu8842Val)
c.26515C>G (p.Leu8839Val)
c.26494C>G (p.Leu8832Val)
c.26485C>G (p.Leu8829Val)
c.26479C>G (p.Leu8827Val)
c.26467C>G (p.Leu8823Val)
c.26464C>G (p.Leu8822Val)
c.26425C>G (p.Leu8809Val)
c.26410C>G (p.Leu8804Val)
c.26395C>G (p.Leu8799Val)
c.26383C>G (p.Leu8795Val)
c.26380C>G (p.Leu8794Val)
c.26377C>G (p.Leu8793Val)
c.*200C>G (n.*200C>G)
c.26533C>G (p.Leu8845Val)
c.26521C>G (p.Leu8841Val)
c.26371C>G (p.Leu8791Val)
c.24811C>G (p.Leu8271Val)
c.24304C>G (p.Leu8102Val)
c.19771C>G (p.Leu6591Val)
c.26509C>G (p.Leu8837Val)
c.26458C>G (p.Leu8820Val)
c.26422C>G (p.Leu8808Val)
c.26269C>G (p.Leu8757Val)
6g.152122441G=CA1673188688ESR1,SYNE1c.2923C= (p.Leu975=)
c.26389C= (p.Leu8797=)
c.26245C= (p.Leu8749=)
c.1732C=
c.2107C=
c.1974C=
c.2239C= (n.2239C=)
c.25174C= (p.Leu8392=)
n.3137C=
c.5165C= (n.5165C=)
n.10081C=
c.4268C= (n.4268C=)
n.9973C=
c.851-2825G= (n.851-2825G=)
n.3003C=
n.7026C=
c.2854C= (p.Leu952=)
c.26536C= (p.Leu8846=)
c.26524C= (p.Leu8842=)
c.26515C= (p.Leu8839=)
c.26494C= (p.Leu8832=)
c.26485C= (p.Leu8829=)
c.26479C= (p.Leu8827=)
c.26467C= (p.Leu8823=)
c.26464C= (p.Leu8822=)
c.26425C= (p.Leu8809=)
c.26410C= (p.Leu8804=)
c.26395C= (p.Leu8799=)
c.26383C= (p.Leu8795=)
c.26380C= (p.Leu8794=)
c.26377C= (p.Leu8793=)
c.*200C= (n.*200C=)
c.26533C= (p.Leu8845=)
c.26521C= (p.Leu8841=)
c.26371C= (p.Leu8791=)
c.24811C= (p.Leu8271=)
c.24304C= (p.Leu8102=)
c.19771C= (p.Leu6591=)
c.26509C= (p.Leu8837=)
c.26458C= (p.Leu8820=)
c.26422C= (p.Leu8808=)
c.26269C= (p.Leu8757=)
6g.152122441G>TCA366088418ESR1,SYNE1c.2923C>A (p.Leu975Ile)
c.26389C>A (p.Leu8797Ile)
c.26245C>A (p.Leu8749Ile)
c.1732C>A
c.2107C>A
c.1974C>A
c.2239C>A (n.2239C>A)
c.25174C>A (p.Leu8392Ile)
n.3137C>A
c.5165C>A (n.5165C>A)
n.10081C>A
c.4268C>A (n.4268C>A)
n.9973C>A
c.851-2825G>T (n.851-2825G>T)
n.3003C>A
n.7026C>A
c.2854C>A (p.Leu952Ile)
c.26536C>A (p.Leu8846Ile)
c.26524C>A (p.Leu8842Ile)
c.26515C>A (p.Leu8839Ile)
c.26494C>A (p.Leu8832Ile)
c.26485C>A (p.Leu8829Ile)
c.26479C>A (p.Leu8827Ile)
c.26467C>A (p.Leu8823Ile)
c.26464C>A (p.Leu8822Ile)
c.26425C>A (p.Leu8809Ile)
c.26410C>A (p.Leu8804Ile)
c.26395C>A (p.Leu8799Ile)
c.26383C>A (p.Leu8795Ile)
c.26380C>A (p.Leu8794Ile)
c.26377C>A (p.Leu8793Ile)
c.*200C>A (n.*200C>A)
c.26533C>A (p.Leu8845Ile)
c.26521C>A (p.Leu8841Ile)
c.26371C>A (p.Leu8791Ile)
c.24811C>A (p.Leu8271Ile)
c.24304C>A (p.Leu8102Ile)
c.19771C>A (p.Leu6591Ile)
c.26509C>A (p.Leu8837Ile)
c.26458C>A (p.Leu8820Ile)
c.26422C>A (p.Leu8808Ile)
c.26269C>A (p.Leu8757Ile)
6g.152122442T>ACA452969377ESR1,SYNE1c.2922A>T (p.Pro974=)
c.26388A>T (p.Pro8796=)
c.26244A>T (p.Pro8748=)
c.1731A>T
c.2106A>T
c.1973A>T
c.2238A>T (n.2238A>T)
c.25173A>T (p.Pro8391=)
n.3136A>T
c.5164A>T (n.5164A>T)
n.10080A>T
c.4267A>T (n.4267A>T)
n.9972A>T
c.851-2824T>A (n.851-2824T>A)
n.3002A>T
n.7025A>T
c.2853A>T (p.Pro951=)
c.26535A>T (p.Pro8845=)
c.26523A>T (p.Pro8841=)
c.26514A>T (p.Pro8838=)
c.26493A>T (p.Pro8831=)
c.26484A>T (p.Pro8828=)
c.26478A>T (p.Pro8826=)
c.26466A>T (p.Pro8822=)
c.26463A>T (p.Pro8821=)
c.26424A>T (p.Pro8808=)
c.26409A>T (p.Pro8803=)
c.26394A>T (p.Pro8798=)
c.26382A>T (p.Pro8794=)
c.26379A>T (p.Pro8793=)
c.26376A>T (p.Pro8792=)
c.*199A>T (n.*199A>T)
c.26532A>T (p.Pro8844=)
c.26520A>T (p.Pro8840=)
c.26370A>T (p.Pro8790=)
c.24810A>T (p.Pro8270=)
c.24303A>T (p.Pro8101=)
c.19770A>T (p.Pro6590=)
c.26508A>T (p.Pro8836=)
c.26457A>T (p.Pro8819=)
c.26421A>T (p.Pro8807=)
c.26268A>T (p.Pro8756=)
6g.152122442T>CCA452969382ESR1,SYNE1c.2922A>G (p.Pro974=)
c.26388A>G (p.Pro8796=)
c.26244A>G (p.Pro8748=)
c.1731A>G
c.2106A>G
c.1973A>G
c.2238A>G (n.2238A>G)
c.25173A>G (p.Pro8391=)
n.3136A>G
c.5164A>G (n.5164A>G)
n.10080A>G
c.4267A>G (n.4267A>G)
n.9972A>G
c.851-2824T>C (n.851-2824T>C)
n.3002A>G
n.7025A>G
c.2853A>G (p.Pro951=)
c.26535A>G (p.Pro8845=)
c.26523A>G (p.Pro8841=)
c.26514A>G (p.Pro8838=)
c.26493A>G (p.Pro8831=)
c.26484A>G (p.Pro8828=)
c.26478A>G (p.Pro8826=)
c.26466A>G (p.Pro8822=)
c.26463A>G (p.Pro8821=)
c.26424A>G (p.Pro8808=)
c.26409A>G (p.Pro8803=)
c.26394A>G (p.Pro8798=)
c.26382A>G (p.Pro8794=)
c.26379A>G (p.Pro8793=)
c.26376A>G (p.Pro8792=)
c.*199A>G (n.*199A>G)
c.26532A>G (p.Pro8844=)
c.26520A>G (p.Pro8840=)
c.26370A>G (p.Pro8790=)
c.24810A>G (p.Pro8270=)
c.24303A>G (p.Pro8101=)
c.19770A>G (p.Pro6590=)
c.26508A>G (p.Pro8836=)
c.26457A>G (p.Pro8819=)
c.26421A>G (p.Pro8807=)
c.26268A>G (p.Pro8756=)
 gnomAD v4
6g.152122442T>GCA452969379ESR1,SYNE1c.2922A>C (p.Pro974=)
c.26388A>C (p.Pro8796=)
c.26244A>C (p.Pro8748=)
c.1731A>C
c.2106A>C
c.1973A>C
c.2238A>C (n.2238A>C)
c.25173A>C (p.Pro8391=)
n.3136A>C
c.5164A>C (n.5164A>C)
n.10080A>C
c.4267A>C (n.4267A>C)
n.9972A>C
c.851-2824T>G (n.851-2824T>G)
n.3002A>C
n.7025A>C
c.2853A>C (p.Pro951=)
c.26535A>C (p.Pro8845=)
c.26523A>C (p.Pro8841=)
c.26514A>C (p.Pro8838=)
c.26493A>C (p.Pro8831=)
c.26484A>C (p.Pro8828=)
c.26478A>C (p.Pro8826=)
c.26466A>C (p.Pro8822=)
c.26463A>C (p.Pro8821=)
c.26424A>C (p.Pro8808=)
c.26409A>C (p.Pro8803=)
c.26394A>C (p.Pro8798=)
c.26382A>C (p.Pro8794=)
c.26379A>C (p.Pro8793=)
c.26376A>C (p.Pro8792=)
c.*199A>C (n.*199A>C)
c.26532A>C (p.Pro8844=)
c.26520A>C (p.Pro8840=)
c.26370A>C (p.Pro8790=)
c.24810A>C (p.Pro8270=)
c.24303A>C (p.Pro8101=)
c.19770A>C (p.Pro6590=)
c.26508A>C (p.Pro8836=)
c.26457A>C (p.Pro8819=)
c.26421A>C (p.Pro8807=)
c.26268A>C (p.Pro8756=)
6g.152122443G>ACA366088419ESR1,SYNE1c.2921C>T (p.Pro974Leu)
c.26387C>T (p.Pro8796Leu)
c.26243C>T (p.Pro8748Leu)
c.1730C>T
c.2105C>T
c.1972C>T
c.2237C>T (n.2237C>T)
c.25172C>T (p.Pro8391Leu)
n.3135C>T
c.5163C>T (n.5163C>T)
n.10079C>T
c.4266C>T (n.4266C>T)
n.9971C>T
c.851-2823G>A (n.851-2823G>A)
n.3001C>T
n.7024C>T
c.2852C>T (p.Pro951Leu)
c.26534C>T (p.Pro8845Leu)
c.26522C>T (p.Pro8841Leu)
c.26513C>T (p.Pro8838Leu)
c.26492C>T (p.Pro8831Leu)
c.26483C>T (p.Pro8828Leu)
c.26477C>T (p.Pro8826Leu)
c.26465C>T (p.Pro8822Leu)
c.26462C>T (p.Pro8821Leu)
c.26423C>T (p.Pro8808Leu)
c.26408C>T (p.Pro8803Leu)
c.26393C>T (p.Pro8798Leu)
c.26381C>T (p.Pro8794Leu)
c.26378C>T (p.Pro8793Leu)
c.26375C>T (p.Pro8792Leu)
c.*198C>T (n.*198C>T)
c.26531C>T (p.Pro8844Leu)
c.26519C>T (p.Pro8840Leu)
c.26369C>T (p.Pro8790Leu)
c.24809C>T (p.Pro8270Leu)
c.24302C>T (p.Pro8101Leu)
c.19769C>T (p.Pro6590Leu)
c.26507C>T (p.Pro8836Leu)
c.26456C>T (p.Pro8819Leu)
c.26420C>T (p.Pro8807Leu)
c.26267C>T (p.Pro8756Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.152122443G>CCA366088420ESR1,SYNE1c.2921C>G (p.Pro974Arg)
c.26387C>G (p.Pro8796Arg)
c.26243C>G (p.Pro8748Arg)
c.1730C>G
c.2105C>G
c.1972C>G
c.2237C>G (n.2237C>G)
c.25172C>G (p.Pro8391Arg)
n.3135C>G
c.5163C>G (n.5163C>G)
n.10079C>G
c.4266C>G (n.4266C>G)
n.9971C>G
c.851-2823G>C (n.851-2823G>C)
n.3001C>G
n.7024C>G
c.2852C>G (p.Pro951Arg)
c.26534C>G (p.Pro8845Arg)
c.26522C>G (p.Pro8841Arg)
c.26513C>G (p.Pro8838Arg)
c.26492C>G (p.Pro8831Arg)
c.26483C>G (p.Pro8828Arg)
c.26477C>G (p.Pro8826Arg)
c.26465C>G (p.Pro8822Arg)
c.26462C>G (p.Pro8821Arg)
c.26423C>G (p.Pro8808Arg)
c.26408C>G (p.Pro8803Arg)
c.26393C>G (p.Pro8798Arg)
c.26381C>G (p.Pro8794Arg)
c.26378C>G (p.Pro8793Arg)
c.26375C>G (p.Pro8792Arg)
c.*198C>G (n.*198C>G)
c.26531C>G (p.Pro8844Arg)
c.26519C>G (p.Pro8840Arg)
c.26369C>G (p.Pro8790Arg)
c.24809C>G (p.Pro8270Arg)
c.24302C>G (p.Pro8101Arg)
c.19769C>G (p.Pro6590Arg)
c.26507C>G (p.Pro8836Arg)
c.26456C>G (p.Pro8819Arg)
c.26420C>G (p.Pro8807Arg)
c.26267C>G (p.Pro8756Arg)
6g.152122443G=CA1673188692ESR1,SYNE1c.2921C= (p.Pro974=)
c.26387C= (p.Pro8796=)
c.26243C= (p.Pro8748=)
c.1730C=
c.2105C=
c.1972C=
c.2237C= (n.2237C=)
c.25172C= (p.Pro8391=)
n.3135C=
c.5163C= (n.5163C=)
n.10079C=
c.4266C= (n.4266C=)
n.9971C=
c.851-2823G= (n.851-2823G=)
n.3001C=
n.7024C=
c.2852C= (p.Pro951=)
c.26534C= (p.Pro8845=)
c.26522C= (p.Pro8841=)
c.26513C= (p.Pro8838=)
c.26492C= (p.Pro8831=)
c.26483C= (p.Pro8828=)
c.26477C= (p.Pro8826=)
c.26465C= (p.Pro8822=)
c.26462C= (p.Pro8821=)
c.26423C= (p.Pro8808=)
c.26408C= (p.Pro8803=)
c.26393C= (p.Pro8798=)
c.26381C= (p.Pro8794=)
c.26378C= (p.Pro8793=)
c.26375C= (p.Pro8792=)
c.*198C= (n.*198C=)
c.26531C= (p.Pro8844=)
c.26519C= (p.Pro8840=)
c.26369C= (p.Pro8790=)
c.24809C= (p.Pro8270=)
c.24302C= (p.Pro8101=)
c.19769C= (p.Pro6590=)
c.26507C= (p.Pro8836=)
c.26456C= (p.Pro8819=)
c.26420C= (p.Pro8807=)
c.26267C= (p.Pro8756=)
6g.152122443G>TCA366088421ESR1,SYNE1c.2921C>A (p.Pro974Gln)
c.26387C>A (p.Pro8796Gln)
c.26243C>A (p.Pro8748Gln)
c.1730C>A
c.2105C>A
c.1972C>A
c.2237C>A (n.2237C>A)
c.25172C>A (p.Pro8391Gln)
n.3135C>A
c.5163C>A (n.5163C>A)
n.10079C>A
c.4266C>A (n.4266C>A)
n.9971C>A
c.851-2823G>T (n.851-2823G>T)
n.3001C>A
n.7024C>A
c.2852C>A (p.Pro951Gln)
c.26534C>A (p.Pro8845Gln)
c.26522C>A (p.Pro8841Gln)
c.26513C>A (p.Pro8838Gln)
c.26492C>A (p.Pro8831Gln)
c.26483C>A (p.Pro8828Gln)
c.26477C>A (p.Pro8826Gln)
c.26465C>A (p.Pro8822Gln)
c.26462C>A (p.Pro8821Gln)
c.26423C>A (p.Pro8808Gln)
c.26408C>A (p.Pro8803Gln)
c.26393C>A (p.Pro8798Gln)
c.26381C>A (p.Pro8794Gln)
c.26378C>A (p.Pro8793Gln)
c.26375C>A (p.Pro8792Gln)
c.*198C>A (n.*198C>A)
c.26531C>A (p.Pro8844Gln)
c.26519C>A (p.Pro8840Gln)
c.26369C>A (p.Pro8790Gln)
c.24809C>A (p.Pro8270Gln)
c.24302C>A (p.Pro8101Gln)
c.19769C>A (p.Pro6590Gln)
c.26507C>A (p.Pro8836Gln)
c.26456C>A (p.Pro8819Gln)
c.26420C>A (p.Pro8807Gln)
c.26267C>A (p.Pro8756Gln)
6g.152122444G>ACA366088423ESR1,SYNE1c.2920C>T (p.Pro974Ser)
c.26386C>T (p.Pro8796Ser)
c.26242C>T (p.Pro8748Ser)
c.1729C>T
c.2104C>T
c.1971C>T
c.2236C>T (n.2236C>T)
c.25171C>T (p.Pro8391Ser)
n.3134C>T
c.5162C>T (n.5162C>T)
n.10078C>T
c.4265C>T (n.4265C>T)
n.9970C>T
c.851-2822G>A (n.851-2822G>A)
n.3000C>T
n.7023C>T
c.2851C>T (p.Pro951Ser)
c.26533C>T (p.Pro8845Ser)
c.26521C>T (p.Pro8841Ser)
c.26512C>T (p.Pro8838Ser)
c.26491C>T (p.Pro8831Ser)
c.26482C>T (p.Pro8828Ser)
c.26476C>T (p.Pro8826Ser)
c.26464C>T (p.Pro8822Ser)
c.26461C>T (p.Pro8821Ser)
c.26422C>T (p.Pro8808Ser)
c.26407C>T (p.Pro8803Ser)
c.26392C>T (p.Pro8798Ser)
c.26380C>T (p.Pro8794Ser)
c.26377C>T (p.Pro8793Ser)
c.26374C>T (p.Pro8792Ser)
c.*197C>T (n.*197C>T)
c.26530C>T (p.Pro8844Ser)
c.26518C>T (p.Pro8840Ser)
c.26368C>T (p.Pro8790Ser)
c.24808C>T (p.Pro8270Ser)
c.24301C>T (p.Pro8101Ser)
c.19768C>T (p.Pro6590Ser)
c.26506C>T (p.Pro8836Ser)
c.26455C>T (p.Pro8819Ser)
c.26419C>T (p.Pro8807Ser)
c.26266C>T (p.Pro8756Ser)
 gnomAD v4
6g.152122444G>CCA366088424ESR1,SYNE1c.2920C>G (p.Pro974Ala)
c.26386C>G (p.Pro8796Ala)
c.26242C>G (p.Pro8748Ala)
c.1729C>G
c.2104C>G
c.1971C>G
c.2236C>G (n.2236C>G)
c.25171C>G (p.Pro8391Ala)
n.3134C>G
c.5162C>G (n.5162C>G)
n.10078C>G
c.4265C>G (n.4265C>G)
n.9970C>G
c.851-2822G>C (n.851-2822G>C)
n.3000C>G
n.7023C>G
c.2851C>G (p.Pro951Ala)
c.26533C>G (p.Pro8845Ala)
c.26521C>G (p.Pro8841Ala)
c.26512C>G (p.Pro8838Ala)
c.26491C>G (p.Pro8831Ala)
c.26482C>G (p.Pro8828Ala)
c.26476C>G (p.Pro8826Ala)
c.26464C>G (p.Pro8822Ala)
c.26461C>G (p.Pro8821Ala)
c.26422C>G (p.Pro8808Ala)
c.26407C>G (p.Pro8803Ala)
c.26392C>G (p.Pro8798Ala)
c.26380C>G (p.Pro8794Ala)
c.26377C>G (p.Pro8793Ala)
c.26374C>G (p.Pro8792Ala)
c.*197C>G (n.*197C>G)
c.26530C>G (p.Pro8844Ala)
c.26518C>G (p.Pro8840Ala)
c.26368C>G (p.Pro8790Ala)
c.24808C>G (p.Pro8270Ala)
c.24301C>G (p.Pro8101Ala)
c.19768C>G (p.Pro6590Ala)
c.26506C>G (p.Pro8836Ala)
c.26455C>G (p.Pro8819Ala)
c.26419C>G (p.Pro8807Ala)
c.26266C>G (p.Pro8756Ala)
6g.152122444G=CA1673188705ESR1,SYNE1c.2920C= (p.Pro974=)
c.26386C= (p.Pro8796=)
c.26242C= (p.Pro8748=)
c.1729C=
c.2104C=
c.1971C=
c.2236C= (n.2236C=)
c.25171C= (p.Pro8391=)
n.3134C=
c.5162C= (n.5162C=)
n.10078C=
c.4265C= (n.4265C=)
n.9970C=
c.851-2822G= (n.851-2822G=)
n.3000C=
n.7023C=
c.2851C= (p.Pro951=)
c.26533C= (p.Pro8845=)
c.26521C= (p.Pro8841=)
c.26512C= (p.Pro8838=)
c.26491C= (p.Pro8831=)
c.26482C= (p.Pro8828=)
c.26476C= (p.Pro8826=)
c.26464C= (p.Pro8822=)
c.26461C= (p.Pro8821=)
c.26422C= (p.Pro8808=)
c.26407C= (p.Pro8803=)
c.26392C= (p.Pro8798=)
c.26380C= (p.Pro8794=)
c.26377C= (p.Pro8793=)
c.26374C= (p.Pro8792=)
c.*197C= (n.*197C=)
c.26530C= (p.Pro8844=)
c.26518C= (p.Pro8840=)
c.26368C= (p.Pro8790=)
c.24808C= (p.Pro8270=)
c.24301C= (p.Pro8101=)
c.19768C= (p.Pro6590=)
c.26506C= (p.Pro8836=)
c.26455C= (p.Pro8819=)
c.26419C= (p.Pro8807=)
c.26266C= (p.Pro8756=)
6g.152122444G>TCA366088422ESR1,SYNE1c.2920C>A (p.Pro974Thr)
c.26386C>A (p.Pro8796Thr)
c.26242C>A (p.Pro8748Thr)
c.1729C>A
c.2104C>A
c.1971C>A
c.2236C>A (n.2236C>A)
c.25171C>A (p.Pro8391Thr)
n.3134C>A
c.5162C>A (n.5162C>A)
n.10078C>A
c.4265C>A (n.4265C>A)
n.9970C>A
c.851-2822G>T (n.851-2822G>T)
n.3000C>A
n.7023C>A
c.2851C>A (p.Pro951Thr)
c.26533C>A (p.Pro8845Thr)
c.26521C>A (p.Pro8841Thr)
c.26512C>A (p.Pro8838Thr)
c.26491C>A (p.Pro8831Thr)
c.26482C>A (p.Pro8828Thr)
c.26476C>A (p.Pro8826Thr)
c.26464C>A (p.Pro8822Thr)
c.26461C>A (p.Pro8821Thr)
c.26422C>A (p.Pro8808Thr)
c.26407C>A (p.Pro8803Thr)
c.26392C>A (p.Pro8798Thr)
c.26380C>A (p.Pro8794Thr)
c.26377C>A (p.Pro8793Thr)
c.26374C>A (p.Pro8792Thr)
c.*197C>A (n.*197C>A)
c.26530C>A (p.Pro8844Thr)
c.26518C>A (p.Pro8840Thr)
c.26368C>A (p.Pro8790Thr)
c.24808C>A (p.Pro8270Thr)
c.24301C>A (p.Pro8101Thr)
c.19768C>A (p.Pro6590Thr)
c.26506C>A (p.Pro8836Thr)
c.26455C>A (p.Pro8819Thr)
c.26419C>A (p.Pro8807Thr)
c.26266C>A (p.Pro8756Thr)
 gnomAD v4
6g.152122445A>CCA452969394ESR1,SYNE1c.2919T>G (p.Pro973=)
c.26385T>G (p.Pro8795=)
c.26241T>G (p.Pro8747=)
c.1728T>G
c.2103T>G
c.1970T>G
c.2235T>G (n.2235T>G)
c.25170T>G (p.Pro8390=)
n.3133T>G
c.5161T>G (n.5161T>G)
n.10077T>G
c.4264T>G (n.4264T>G)
n.9969T>G
c.851-2821A>C (n.851-2821A>C)
n.2999T>G
n.7022T>G
c.2850T>G (p.Pro950=)
c.26532T>G (p.Pro8844=)
c.26520T>G (p.Pro8840=)
c.26511T>G (p.Pro8837=)
c.26490T>G (p.Pro8830=)
c.26481T>G (p.Pro8827=)
c.26475T>G (p.Pro8825=)
c.26463T>G (p.Pro8821=)
c.26460T>G (p.Pro8820=)
c.26421T>G (p.Pro8807=)
c.26406T>G (p.Pro8802=)
c.26391T>G (p.Pro8797=)
c.26379T>G (p.Pro8793=)
c.26376T>G (p.Pro8792=)
c.26373T>G (p.Pro8791=)
c.*196T>G (n.*196T>G)
c.26529T>G (p.Pro8843=)
c.26517T>G (p.Pro8839=)
c.26367T>G (p.Pro8789=)
c.24807T>G (p.Pro8269=)
c.24300T>G (p.Pro8100=)
c.19767T>G (p.Pro6589=)
c.26505T>G (p.Pro8835=)
c.26454T>G (p.Pro8818=)
c.26418T>G (p.Pro8806=)
c.26265T>G (p.Pro8755=)
6g.152122445A>GCA452969396ESR1,SYNE1c.2919T>C (p.Pro973=)
c.26385T>C (p.Pro8795=)
c.26241T>C (p.Pro8747=)
c.1728T>C
c.2103T>C
c.1970T>C
c.2235T>C (n.2235T>C)
c.25170T>C (p.Pro8390=)
n.3133T>C
c.5161T>C (n.5161T>C)
n.10077T>C
c.4264T>C (n.4264T>C)
n.9969T>C
c.851-2821A>G (n.851-2821A>G)
n.2999T>C
n.7022T>C
c.2850T>C (p.Pro950=)
c.26532T>C (p.Pro8844=)
c.26520T>C (p.Pro8840=)
c.26511T>C (p.Pro8837=)
c.26490T>C (p.Pro8830=)
c.26481T>C (p.Pro8827=)
c.26475T>C (p.Pro8825=)
c.26463T>C (p.Pro8821=)
c.26460T>C (p.Pro8820=)
c.26421T>C (p.Pro8807=)
c.26406T>C (p.Pro8802=)
c.26391T>C (p.Pro8797=)
c.26379T>C (p.Pro8793=)
c.26376T>C (p.Pro8792=)
c.26373T>C (p.Pro8791=)
c.*196T>C (n.*196T>C)
c.26529T>C (p.Pro8843=)
c.26517T>C (p.Pro8839=)
c.26367T>C (p.Pro8789=)
c.24807T>C (p.Pro8269=)
c.24300T>C (p.Pro8100=)
c.19767T>C (p.Pro6589=)
c.26505T>C (p.Pro8835=)
c.26454T>C (p.Pro8818=)
c.26418T>C (p.Pro8806=)
c.26265T>C (p.Pro8755=)
6g.152122445A>TCA452969398ESR1,SYNE1c.2919T>A (p.Pro973=)
c.26385T>A (p.Pro8795=)
c.26241T>A (p.Pro8747=)
c.1728T>A
c.2103T>A
c.1970T>A
c.2235T>A (n.2235T>A)
c.25170T>A (p.Pro8390=)
n.3133T>A
c.5161T>A (n.5161T>A)
n.10077T>A
c.4264T>A (n.4264T>A)
n.9969T>A
c.851-2821A>T (n.851-2821A>T)
n.2999T>A
n.7022T>A
c.2850T>A (p.Pro950=)
c.26532T>A (p.Pro8844=)
c.26520T>A (p.Pro8840=)
c.26511T>A (p.Pro8837=)
c.26490T>A (p.Pro8830=)
c.26481T>A (p.Pro8827=)
c.26475T>A (p.Pro8825=)
c.26463T>A (p.Pro8821=)
c.26460T>A (p.Pro8820=)
c.26421T>A (p.Pro8807=)
c.26406T>A (p.Pro8802=)
c.26391T>A (p.Pro8797=)
c.26379T>A (p.Pro8793=)
c.26376T>A (p.Pro8792=)
c.26373T>A (p.Pro8791=)
c.*196T>A (n.*196T>A)
c.26529T>A (p.Pro8843=)
c.26517T>A (p.Pro8839=)
c.26367T>A (p.Pro8789=)
c.24807T>A (p.Pro8269=)
c.24300T>A (p.Pro8100=)
c.19767T>A (p.Pro6589=)
c.26505T>A (p.Pro8835=)
c.26454T>A (p.Pro8818=)
c.26418T>A (p.Pro8806=)
c.26265T>A (p.Pro8755=)
6g.152122445_152122446insCCACA571437290ESR1,SYNE1c.2919_2920insGGT (p.Pro973_Pro974insGly)
c.26385_26386insGGT (p.Pro8795_Pro8796insGly)
c.26241_26242insGGT (p.Pro8747_Pro8748insGly)
c.1728_1729insGGT
c.2103_2104insGGT
c.1970_1971insGGT
c.2235_2236insGGT (n.2235_2236insGGT)
c.25170_25171insGGT (p.Pro8390_Pro8391insGly)
n.3133_3134insGGT
c.5161_5162insGGT (n.5161_5162insGGT)
n.10077_10078insGGT
c.4264_4265insGGT (n.4264_4265insGGT)
n.9969_9970insGGT
c.851-2821_851-2820insCCA (n.851-2821_851-2820insCCA)
n.2999_3000insGGT
n.7022_7023insGGT
c.2850_2851insGGT (p.Pro950_Pro951insGly)
c.26532_26533insGGT (p.Pro8844_Pro8845insGly)
c.26520_26521insGGT (p.Pro8840_Pro8841insGly)
c.26511_26512insGGT (p.Pro8837_Pro8838insGly)
c.26490_26491insGGT (p.Pro8830_Pro8831insGly)
c.26481_26482insGGT (p.Pro8827_Pro8828insGly)
c.26475_26476insGGT (p.Pro8825_Pro8826insGly)
c.26463_26464insGGT (p.Pro8821_Pro8822insGly)
c.26460_26461insGGT (p.Pro8820_Pro8821insGly)
c.26421_26422insGGT (p.Pro8807_Pro8808insGly)
c.26406_26407insGGT (p.Pro8802_Pro8803insGly)
c.26391_26392insGGT (p.Pro8797_Pro8798insGly)
c.26379_26380insGGT (p.Pro8793_Pro8794insGly)
c.26376_26377insGGT (p.Pro8792_Pro8793insGly)
c.26373_26374insGGT (p.Pro8791_Pro8792insGly)
c.*196_*197insGGT (n.*196_*197insGGT)
c.26529_26530insGGT (p.Pro8843_Pro8844insGly)
c.26517_26518insGGT (p.Pro8839_Pro8840insGly)
c.26367_26368insGGT (p.Pro8789_Pro8790insGly)
c.24807_24808insGGT (p.Pro8269_Pro8270insGly)
c.24300_24301insGGT (p.Pro8100_Pro8101insGly)
c.19767_19768insGGT (p.Pro6589_Pro6590insGly)
c.26505_26506insGGT (p.Pro8835_Pro8836insGly)
c.26454_26455insGGT (p.Pro8818_Pro8819insGly)
c.26418_26419insGGT (p.Pro8806_Pro8807insGly)
c.26265_26266insGGT (p.Pro8755_Pro8756insGly)
 dbSNP gnomAD v2 gnomAD v4
6g.152122446G>ACA366088426ESR1,SYNE1c.2918C>T (p.Pro973Leu)
c.26384C>T (p.Pro8795Leu)
c.26240C>T (p.Pro8747Leu)
c.1727C>T
c.2102C>T
c.1969C>T
c.2234C>T (n.2234C>T)
c.25169C>T (p.Pro8390Leu)
n.3132C>T
c.5160C>T (n.5160C>T)
n.10076C>T
c.4263C>T (n.4263C>T)
n.9968C>T
c.851-2820G>A (n.851-2820G>A)
n.2998C>T
n.7021C>T
c.2849C>T (p.Pro950Leu)
c.26531C>T (p.Pro8844Leu)
c.26519C>T (p.Pro8840Leu)
c.26510C>T (p.Pro8837Leu)
c.26489C>T (p.Pro8830Leu)
c.26480C>T (p.Pro8827Leu)
c.26474C>T (p.Pro8825Leu)
c.26462C>T (p.Pro8821Leu)
c.26459C>T (p.Pro8820Leu)
c.26420C>T (p.Pro8807Leu)
c.26405C>T (p.Pro8802Leu)
c.26390C>T (p.Pro8797Leu)
c.26378C>T (p.Pro8793Leu)
c.26375C>T (p.Pro8792Leu)
c.26372C>T (p.Pro8791Leu)
c.*195C>T (n.*195C>T)
c.26528C>T (p.Pro8843Leu)
c.26516C>T (p.Pro8839Leu)
c.26366C>T (p.Pro8789Leu)
c.24806C>T (p.Pro8269Leu)
c.24299C>T (p.Pro8100Leu)
c.19766C>T (p.Pro6589Leu)
c.26504C>T (p.Pro8835Leu)
c.26453C>T (p.Pro8818Leu)
c.26417C>T (p.Pro8806Leu)
c.26264C>T (p.Pro8755Leu)
 ClinVar gnomAD v4
6g.152122446G>CCA366088425ESR1,SYNE1c.2918C>G (p.Pro973Arg)
c.26384C>G (p.Pro8795Arg)
c.26240C>G (p.Pro8747Arg)
c.1727C>G
c.2102C>G
c.1969C>G
c.2234C>G (n.2234C>G)
c.25169C>G (p.Pro8390Arg)
n.3132C>G
c.5160C>G (n.5160C>G)
n.10076C>G
c.4263C>G (n.4263C>G)
n.9968C>G
c.851-2820G>C (n.851-2820G>C)
n.2998C>G
n.7021C>G
c.2849C>G (p.Pro950Arg)
c.26531C>G (p.Pro8844Arg)
c.26519C>G (p.Pro8840Arg)
c.26510C>G (p.Pro8837Arg)
c.26489C>G (p.Pro8830Arg)
c.26480C>G (p.Pro8827Arg)
c.26474C>G (p.Pro8825Arg)
c.26462C>G (p.Pro8821Arg)
c.26459C>G (p.Pro8820Arg)
c.26420C>G (p.Pro8807Arg)
c.26405C>G (p.Pro8802Arg)
c.26390C>G (p.Pro8797Arg)
c.26378C>G (p.Pro8793Arg)
c.26375C>G (p.Pro8792Arg)
c.26372C>G (p.Pro8791Arg)
c.*195C>G (n.*195C>G)
c.26528C>G (p.Pro8843Arg)
c.26516C>G (p.Pro8839Arg)
c.26366C>G (p.Pro8789Arg)
c.24806C>G (p.Pro8269Arg)
c.24299C>G (p.Pro8100Arg)
c.19766C>G (p.Pro6589Arg)
c.26504C>G (p.Pro8835Arg)
c.26453C>G (p.Pro8818Arg)
c.26417C>G (p.Pro8806Arg)
c.26264C>G (p.Pro8755Arg)
 gnomAD v4
6g.152122446G>TCA366088427ESR1,SYNE1c.2918C>A (p.Pro973His)
c.26384C>A (p.Pro8795His)
c.26240C>A (p.Pro8747His)
c.1727C>A
c.2102C>A
c.1969C>A
c.2234C>A (n.2234C>A)
c.25169C>A (p.Pro8390His)
n.3132C>A
c.5160C>A (n.5160C>A)
n.10076C>A
c.4263C>A (n.4263C>A)
n.9968C>A
c.851-2820G>T (n.851-2820G>T)
n.2998C>A
n.7021C>A
c.2849C>A (p.Pro950His)
c.26531C>A (p.Pro8844His)
c.26519C>A (p.Pro8840His)
c.26510C>A (p.Pro8837His)
c.26489C>A (p.Pro8830His)
c.26480C>A (p.Pro8827His)
c.26474C>A (p.Pro8825His)
c.26462C>A (p.Pro8821His)
c.26459C>A (p.Pro8820His)
c.26420C>A (p.Pro8807His)
c.26405C>A (p.Pro8802His)
c.26390C>A (p.Pro8797His)
c.26378C>A (p.Pro8793His)
c.26375C>A (p.Pro8792His)
c.26372C>A (p.Pro8791His)
c.*195C>A (n.*195C>A)
c.26528C>A (p.Pro8843His)
c.26516C>A (p.Pro8839His)
c.26366C>A (p.Pro8789His)
c.24806C>A (p.Pro8269His)
c.24299C>A (p.Pro8100His)
c.19766C>A (p.Pro6589His)
c.26504C>A (p.Pro8835His)
c.26453C>A (p.Pro8818His)
c.26417C>A (p.Pro8806His)
c.26264C>A (p.Pro8755His)
6g.152122447G>ACA366088428ESR1,SYNE1c.2917C>T (p.Pro973Ser)
c.26383C>T (p.Pro8795Ser)
c.26239C>T (p.Pro8747Ser)
c.1726C>T
c.2101C>T
c.1968C>T
c.2233C>T (n.2233C>T)
c.25168C>T (p.Pro8390Ser)
n.3131C>T
c.5159C>T (n.5159C>T)
n.10075C>T
c.4262C>T (n.4262C>T)
n.9967C>T
c.851-2819G>A (n.851-2819G>A)
n.2997C>T
n.7020C>T
c.2848C>T (p.Pro950Ser)
c.26530C>T (p.Pro8844Ser)
c.26518C>T (p.Pro8840Ser)
c.26509C>T (p.Pro8837Ser)
c.26488C>T (p.Pro8830Ser)
c.26479C>T (p.Pro8827Ser)
c.26473C>T (p.Pro8825Ser)
c.26461C>T (p.Pro8821Ser)
c.26458C>T (p.Pro8820Ser)
c.26419C>T (p.Pro8807Ser)
c.26404C>T (p.Pro8802Ser)
c.26389C>T (p.Pro8797Ser)
c.26377C>T (p.Pro8793Ser)
c.26374C>T (p.Pro8792Ser)
c.26371C>T (p.Pro8791Ser)
c.*194C>T (n.*194C>T)
c.26527C>T (p.Pro8843Ser)
c.26515C>T (p.Pro8839Ser)
c.26365C>T (p.Pro8789Ser)
c.24805C>T (p.Pro8269Ser)
c.24298C>T (p.Pro8100Ser)
c.19765C>T (p.Pro6589Ser)
c.26503C>T (p.Pro8835Ser)
c.26452C>T (p.Pro8818Ser)
c.26416C>T (p.Pro8806Ser)
c.26263C>T (p.Pro8755Ser)
6g.152122447G>CCA366088430ESR1,SYNE1c.2917C>G (p.Pro973Ala)
c.26383C>G (p.Pro8795Ala)
c.26239C>G (p.Pro8747Ala)
c.1726C>G
c.2101C>G
c.1968C>G
c.2233C>G (n.2233C>G)
c.25168C>G (p.Pro8390Ala)
n.3131C>G
c.5159C>G (n.5159C>G)
n.10075C>G
c.4262C>G (n.4262C>G)
n.9967C>G
c.851-2819G>C (n.851-2819G>C)
n.2997C>G
n.7020C>G
c.2848C>G (p.Pro950Ala)
c.26530C>G (p.Pro8844Ala)
c.26518C>G (p.Pro8840Ala)
c.26509C>G (p.Pro8837Ala)
c.26488C>G (p.Pro8830Ala)
c.26479C>G (p.Pro8827Ala)
c.26473C>G (p.Pro8825Ala)
c.26461C>G (p.Pro8821Ala)
c.26458C>G (p.Pro8820Ala)
c.26419C>G (p.Pro8807Ala)
c.26404C>G (p.Pro8802Ala)
c.26389C>G (p.Pro8797Ala)
c.26377C>G (p.Pro8793Ala)
c.26374C>G (p.Pro8792Ala)
c.26371C>G (p.Pro8791Ala)
c.*194C>G (n.*194C>G)
c.26527C>G (p.Pro8843Ala)
c.26515C>G (p.Pro8839Ala)
c.26365C>G (p.Pro8789Ala)
c.24805C>G (p.Pro8269Ala)
c.24298C>G (p.Pro8100Ala)
c.19765C>G (p.Pro6589Ala)
c.26503C>G (p.Pro8835Ala)
c.26452C>G (p.Pro8818Ala)
c.26416C>G (p.Pro8806Ala)
c.26263C>G (p.Pro8755Ala)
6g.152122447G>TCA366088429ESR1,SYNE1c.2917C>A (p.Pro973Thr)
c.26383C>A (p.Pro8795Thr)
c.26239C>A (p.Pro8747Thr)
c.1726C>A
c.2101C>A
c.1968C>A
c.2233C>A (n.2233C>A)
c.25168C>A (p.Pro8390Thr)
n.3131C>A
c.5159C>A (n.5159C>A)
n.10075C>A
c.4262C>A (n.4262C>A)
n.9967C>A
c.851-2819G>T (n.851-2819G>T)
n.2997C>A
n.7020C>A
c.2848C>A (p.Pro950Thr)
c.26530C>A (p.Pro8844Thr)
c.26518C>A (p.Pro8840Thr)
c.26509C>A (p.Pro8837Thr)
c.26488C>A (p.Pro8830Thr)
c.26479C>A (p.Pro8827Thr)
c.26473C>A (p.Pro8825Thr)
c.26461C>A (p.Pro8821Thr)
c.26458C>A (p.Pro8820Thr)
c.26419C>A (p.Pro8807Thr)
c.26404C>A (p.Pro8802Thr)
c.26389C>A (p.Pro8797Thr)
c.26377C>A (p.Pro8793Thr)
c.26374C>A (p.Pro8792Thr)
c.26371C>A (p.Pro8791Thr)
c.*194C>A (n.*194C>A)
c.26527C>A (p.Pro8843Thr)
c.26515C>A (p.Pro8839Thr)
c.26365C>A (p.Pro8789Thr)
c.24805C>A (p.Pro8269Thr)
c.24298C>A (p.Pro8100Thr)
c.19765C>A (p.Pro6589Thr)
c.26503C>A (p.Pro8835Thr)
c.26452C>A (p.Pro8818Thr)
c.26416C>A (p.Pro8806Thr)
c.26263C>A (p.Pro8755Thr)
6g.152122448A>CCA452969407ESR1,SYNE1c.2916T>G (p.Pro972=)
c.26382T>G (p.Pro8794=)
c.26238T>G (p.Pro8746=)
c.1725T>G
c.2100T>G
c.1967T>G
c.2232T>G (n.2232T>G)
c.25167T>G (p.Pro8389=)
n.3130T>G
c.5158T>G (n.5158T>G)
n.10074T>G
c.4261T>G (n.4261T>G)
n.9966T>G
c.851-2818A>C (n.851-2818A>C)
n.2996T>G
n.7019T>G
c.2847T>G (p.Pro949=)
c.26529T>G (p.Pro8843=)
c.26517T>G (p.Pro8839=)
c.26508T>G (p.Pro8836=)
c.26487T>G (p.Pro8829=)
c.26478T>G (p.Pro8826=)
c.26472T>G (p.Pro8824=)
c.26460T>G (p.Pro8820=)
c.26457T>G (p.Pro8819=)
c.26418T>G (p.Pro8806=)
c.26403T>G (p.Pro8801=)
c.26388T>G (p.Pro8796=)
c.26376T>G (p.Pro8792=)
c.26373T>G (p.Pro8791=)
c.26370T>G (p.Pro8790=)
c.*193T>G (n.*193T>G)
c.26526T>G (p.Pro8842=)
c.26514T>G (p.Pro8838=)
c.26364T>G (p.Pro8788=)
c.24804T>G (p.Pro8268=)
c.24297T>G (p.Pro8099=)
c.19764T>G (p.Pro6588=)
c.26502T>G (p.Pro8834=)
c.26451T>G (p.Pro8817=)
c.26415T>G (p.Pro8805=)
c.26262T>G (p.Pro8754=)
6g.152122448A>GCA452969411ESR1,SYNE1c.2916T>C (p.Pro972=)
c.26382T>C (p.Pro8794=)
c.26238T>C (p.Pro8746=)
c.1725T>C
c.2100T>C
c.1967T>C
c.2232T>C (n.2232T>C)
c.25167T>C (p.Pro8389=)
n.3130T>C
c.5158T>C (n.5158T>C)
n.10074T>C
c.4261T>C (n.4261T>C)
n.9966T>C
c.851-2818A>G (n.851-2818A>G)
n.2996T>C
n.7019T>C
c.2847T>C (p.Pro949=)
c.26529T>C (p.Pro8843=)
c.26517T>C (p.Pro8839=)
c.26508T>C (p.Pro8836=)
c.26487T>C (p.Pro8829=)
c.26478T>C (p.Pro8826=)
c.26472T>C (p.Pro8824=)
c.26460T>C (p.Pro8820=)
c.26457T>C (p.Pro8819=)
c.26418T>C (p.Pro8806=)
c.26403T>C (p.Pro8801=)
c.26388T>C (p.Pro8796=)
c.26376T>C (p.Pro8792=)
c.26373T>C (p.Pro8791=)
c.26370T>C (p.Pro8790=)
c.*193T>C (n.*193T>C)
c.26526T>C (p.Pro8842=)
c.26514T>C (p.Pro8838=)
c.26364T>C (p.Pro8788=)
c.24804T>C (p.Pro8268=)
c.24297T>C (p.Pro8099=)
c.19764T>C (p.Pro6588=)
c.26502T>C (p.Pro8834=)
c.26451T>C (p.Pro8817=)
c.26415T>C (p.Pro8805=)
c.26262T>C (p.Pro8754=)
 gnomAD v4
6g.152122448A>TCA452969413ESR1,SYNE1c.2916T>A (p.Pro972=)
c.26382T>A (p.Pro8794=)
c.26238T>A (p.Pro8746=)
c.1725T>A
c.2100T>A
c.1967T>A
c.2232T>A (n.2232T>A)
c.25167T>A (p.Pro8389=)
n.3130T>A
c.5158T>A (n.5158T>A)
n.10074T>A
c.4261T>A (n.4261T>A)
n.9966T>A
c.851-2818A>T (n.851-2818A>T)
n.2996T>A
n.7019T>A
c.2847T>A (p.Pro949=)
c.26529T>A (p.Pro8843=)
c.26517T>A (p.Pro8839=)
c.26508T>A (p.Pro8836=)
c.26487T>A (p.Pro8829=)
c.26478T>A (p.Pro8826=)
c.26472T>A (p.Pro8824=)
c.26460T>A (p.Pro8820=)
c.26457T>A (p.Pro8819=)
c.26418T>A (p.Pro8806=)
c.26403T>A (p.Pro8801=)
c.26388T>A (p.Pro8796=)
c.26376T>A (p.Pro8792=)
c.26373T>A (p.Pro8791=)
c.26370T>A (p.Pro8790=)
c.*193T>A (n.*193T>A)
c.26526T>A (p.Pro8842=)
c.26514T>A (p.Pro8838=)
c.26364T>A (p.Pro8788=)
c.24804T>A (p.Pro8268=)
c.24297T>A (p.Pro8099=)
c.19764T>A (p.Pro6588=)
c.26502T>A (p.Pro8834=)
c.26451T>A (p.Pro8817=)
c.26415T>A (p.Pro8805=)
c.26262T>A (p.Pro8754=)
6g.152122449G>ACA366088431ESR1,SYNE1c.2915C>T (p.Pro972Leu)
c.26381C>T (p.Pro8794Leu)
c.26237C>T (p.Pro8746Leu)
c.1724C>T
c.2099C>T
c.1966C>T
c.2231C>T (n.2231C>T)
c.25166C>T (p.Pro8389Leu)
n.3129C>T
c.5157C>T (n.5157C>T)
n.10073C>T
c.4260C>T (n.4260C>T)
n.9965C>T
c.851-2817G>A (n.851-2817G>A)
n.2995C>T
n.7018C>T
c.2846C>T (p.Pro949Leu)
c.26528C>T (p.Pro8843Leu)
c.26516C>T (p.Pro8839Leu)
c.26507C>T (p.Pro8836Leu)
c.26486C>T (p.Pro8829Leu)
c.26477C>T (p.Pro8826Leu)
c.26471C>T (p.Pro8824Leu)
c.26459C>T (p.Pro8820Leu)
c.26456C>T (p.Pro8819Leu)
c.26417C>T (p.Pro8806Leu)
c.26402C>T (p.Pro8801Leu)
c.26387C>T (p.Pro8796Leu)
c.26375C>T (p.Pro8792Leu)
c.26372C>T (p.Pro8791Leu)
c.26369C>T (p.Pro8790Leu)
c.*192C>T (n.*192C>T)
c.26525C>T (p.Pro8842Leu)
c.26513C>T (p.Pro8838Leu)
c.26363C>T (p.Pro8788Leu)
c.24803C>T (p.Pro8268Leu)
c.24296C>T (p.Pro8099Leu)
c.19763C>T (p.Pro6588Leu)
c.26501C>T (p.Pro8834Leu)
c.26450C>T (p.Pro8817Leu)
c.26414C>T (p.Pro8805Leu)
c.26261C>T (p.Pro8754Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.152122449G>CCA4052573ESR1,SYNE1c.2915C>G (p.Pro972Arg)
c.26381C>G (p.Pro8794Arg)
c.26237C>G (p.Pro8746Arg)
c.1724C>G
c.2099C>G
c.1966C>G
c.2231C>G (n.2231C>G)
c.25166C>G (p.Pro8389Arg)
n.3129C>G
c.5157C>G (n.5157C>G)
n.10073C>G
c.4260C>G (n.4260C>G)
n.9965C>G
c.851-2817G>C (n.851-2817G>C)
n.2995C>G
n.7018C>G
c.2846C>G (p.Pro949Arg)
c.26528C>G (p.Pro8843Arg)
c.26516C>G (p.Pro8839Arg)
c.26507C>G (p.Pro8836Arg)
c.26486C>G (p.Pro8829Arg)
c.26477C>G (p.Pro8826Arg)
c.26471C>G (p.Pro8824Arg)
c.26459C>G (p.Pro8820Arg)
c.26456C>G (p.Pro8819Arg)
c.26417C>G (p.Pro8806Arg)
c.26402C>G (p.Pro8801Arg)
c.26387C>G (p.Pro8796Arg)
c.26375C>G (p.Pro8792Arg)
c.26372C>G (p.Pro8791Arg)
c.26369C>G (p.Pro8790Arg)
c.*192C>G (n.*192C>G)
c.26525C>G (p.Pro8842Arg)
c.26513C>G (p.Pro8838Arg)
c.26363C>G (p.Pro8788Arg)
c.24803C>G (p.Pro8268Arg)
c.24296C>G (p.Pro8099Arg)
c.19763C>G (p.Pro6588Arg)
c.26501C>G (p.Pro8834Arg)
c.26450C>G (p.Pro8817Arg)
c.26414C>G (p.Pro8805Arg)
c.26261C>G (p.Pro8754Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122449G=CA1673188713ESR1,SYNE1c.2915C= (p.Pro972=)
c.26381C= (p.Pro8794=)
c.26237C= (p.Pro8746=)
c.1724C=
c.2099C=
c.1966C=
c.2231C= (n.2231C=)
c.25166C= (p.Pro8389=)
n.3129C=
c.5157C= (n.5157C=)
n.10073C=
c.4260C= (n.4260C=)
n.9965C=
c.851-2817G= (n.851-2817G=)
n.2995C=
n.7018C=
c.2846C= (p.Pro949=)
c.26528C= (p.Pro8843=)
c.26516C= (p.Pro8839=)
c.26507C= (p.Pro8836=)
c.26486C= (p.Pro8829=)
c.26477C= (p.Pro8826=)
c.26471C= (p.Pro8824=)
c.26459C= (p.Pro8820=)
c.26456C= (p.Pro8819=)
c.26417C= (p.Pro8806=)
c.26402C= (p.Pro8801=)
c.26387C= (p.Pro8796=)
c.26375C= (p.Pro8792=)
c.26372C= (p.Pro8791=)
c.26369C= (p.Pro8790=)
c.*192C= (n.*192C=)
c.26525C= (p.Pro8842=)
c.26513C= (p.Pro8838=)
c.26363C= (p.Pro8788=)
c.24803C= (p.Pro8268=)
c.24296C= (p.Pro8099=)
c.19763C= (p.Pro6588=)
c.26501C= (p.Pro8834=)
c.26450C= (p.Pro8817=)
c.26414C= (p.Pro8805=)
c.26261C= (p.Pro8754=)
6g.152122449G>TCA366088432ESR1,SYNE1c.2915C>A (p.Pro972His)
c.26381C>A (p.Pro8794His)
c.26237C>A (p.Pro8746His)
c.1724C>A
c.2099C>A
c.1966C>A
c.2231C>A (n.2231C>A)
c.25166C>A (p.Pro8389His)
n.3129C>A
c.5157C>A (n.5157C>A)
n.10073C>A
c.4260C>A (n.4260C>A)
n.9965C>A
c.851-2817G>T (n.851-2817G>T)
n.2995C>A
n.7018C>A
c.2846C>A (p.Pro949His)
c.26528C>A (p.Pro8843His)
c.26516C>A (p.Pro8839His)
c.26507C>A (p.Pro8836His)
c.26486C>A (p.Pro8829His)
c.26477C>A (p.Pro8826His)
c.26471C>A (p.Pro8824His)
c.26459C>A (p.Pro8820His)
c.26456C>A (p.Pro8819His)
c.26417C>A (p.Pro8806His)
c.26402C>A (p.Pro8801His)
c.26387C>A (p.Pro8796His)
c.26375C>A (p.Pro8792His)
c.26372C>A (p.Pro8791His)
c.26369C>A (p.Pro8790His)
c.*192C>A (n.*192C>A)
c.26525C>A (p.Pro8842His)
c.26513C>A (p.Pro8838His)
c.26363C>A (p.Pro8788His)
c.24803C>A (p.Pro8268His)
c.24296C>A (p.Pro8099His)
c.19763C>A (p.Pro6588His)
c.26501C>A (p.Pro8834His)
c.26450C>A (p.Pro8817His)
c.26414C>A (p.Pro8805His)
c.26261C>A (p.Pro8754His)
6g.152122450G>ACA366088433ESR1,SYNE1c.2914C>T (p.Pro972Ser)
c.26380C>T (p.Pro8794Ser)
c.26236C>T (p.Pro8746Ser)
c.1723C>T
c.2098C>T
c.1965C>T
c.2230C>T (n.2230C>T)
c.25165C>T (p.Pro8389Ser)
n.3128C>T
c.5156C>T (n.5156C>T)
n.10072C>T
c.4259C>T (n.4259C>T)
n.9964C>T
c.851-2816G>A (n.851-2816G>A)
n.2994C>T
n.7017C>T
c.2845C>T (p.Pro949Ser)
c.26527C>T (p.Pro8843Ser)
c.26515C>T (p.Pro8839Ser)
c.26506C>T (p.Pro8836Ser)
c.26485C>T (p.Pro8829Ser)
c.26476C>T (p.Pro8826Ser)
c.26470C>T (p.Pro8824Ser)
c.26458C>T (p.Pro8820Ser)
c.26455C>T (p.Pro8819Ser)
c.26416C>T (p.Pro8806Ser)
c.26401C>T (p.Pro8801Ser)
c.26386C>T (p.Pro8796Ser)
c.26374C>T (p.Pro8792Ser)
c.26371C>T (p.Pro8791Ser)
c.26368C>T (p.Pro8790Ser)
c.*191C>T (n.*191C>T)
c.26524C>T (p.Pro8842Ser)
c.26512C>T (p.Pro8838Ser)
c.26362C>T (p.Pro8788Ser)
c.24802C>T (p.Pro8268Ser)
c.24295C>T (p.Pro8099Ser)
c.19762C>T (p.Pro6588Ser)
c.26500C>T (p.Pro8834Ser)
c.26449C>T (p.Pro8817Ser)
c.26413C>T (p.Pro8805Ser)
c.26260C>T (p.Pro8754Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.152122450G>CCA366088434ESR1,SYNE1c.2914C>G (p.Pro972Ala)
c.26380C>G (p.Pro8794Ala)
c.26236C>G (p.Pro8746Ala)
c.1723C>G
c.2098C>G
c.1965C>G
c.2230C>G (n.2230C>G)
c.25165C>G (p.Pro8389Ala)
n.3128C>G
c.5156C>G (n.5156C>G)
n.10072C>G
c.4259C>G (n.4259C>G)
n.9964C>G
c.851-2816G>C (n.851-2816G>C)
n.2994C>G
n.7017C>G
c.2845C>G (p.Pro949Ala)
c.26527C>G (p.Pro8843Ala)
c.26515C>G (p.Pro8839Ala)
c.26506C>G (p.Pro8836Ala)
c.26485C>G (p.Pro8829Ala)
c.26476C>G (p.Pro8826Ala)
c.26470C>G (p.Pro8824Ala)
c.26458C>G (p.Pro8820Ala)
c.26455C>G (p.Pro8819Ala)
c.26416C>G (p.Pro8806Ala)
c.26401C>G (p.Pro8801Ala)
c.26386C>G (p.Pro8796Ala)
c.26374C>G (p.Pro8792Ala)
c.26371C>G (p.Pro8791Ala)
c.26368C>G (p.Pro8790Ala)
c.*191C>G (n.*191C>G)
c.26524C>G (p.Pro8842Ala)
c.26512C>G (p.Pro8838Ala)
c.26362C>G (p.Pro8788Ala)
c.24802C>G (p.Pro8268Ala)
c.24295C>G (p.Pro8099Ala)
c.19762C>G (p.Pro6588Ala)
c.26500C>G (p.Pro8834Ala)
c.26449C>G (p.Pro8817Ala)
c.26413C>G (p.Pro8805Ala)
c.26260C>G (p.Pro8754Ala)
6g.152122450G=CA1673188715ESR1,SYNE1c.2914C= (p.Pro972=)
c.26380C= (p.Pro8794=)
c.26236C= (p.Pro8746=)
c.1723C=
c.2098C=
c.1965C=
c.2230C= (n.2230C=)
c.25165C= (p.Pro8389=)
n.3128C=
c.5156C= (n.5156C=)
n.10072C=
c.4259C= (n.4259C=)
n.9964C=
c.851-2816G= (n.851-2816G=)
n.2994C=
n.7017C=
c.2845C= (p.Pro949=)
c.26527C= (p.Pro8843=)
c.26515C= (p.Pro8839=)
c.26506C= (p.Pro8836=)
c.26485C= (p.Pro8829=)
c.26476C= (p.Pro8826=)
c.26470C= (p.Pro8824=)
c.26458C= (p.Pro8820=)
c.26455C= (p.Pro8819=)
c.26416C= (p.Pro8806=)
c.26401C= (p.Pro8801=)
c.26386C= (p.Pro8796=)
c.26374C= (p.Pro8792=)
c.26371C= (p.Pro8791=)
c.26368C= (p.Pro8790=)
c.*191C= (n.*191C=)
c.26524C= (p.Pro8842=)
c.26512C= (p.Pro8838=)
c.26362C= (p.Pro8788=)
c.24802C= (p.Pro8268=)
c.24295C= (p.Pro8099=)
c.19762C= (p.Pro6588=)
c.26500C= (p.Pro8834=)
c.26449C= (p.Pro8817=)
c.26413C= (p.Pro8805=)
c.26260C= (p.Pro8754=)
6g.152122450G>TCA366088435ESR1,SYNE1c.2914C>A (p.Pro972Thr)
c.26380C>A (p.Pro8794Thr)
c.26236C>A (p.Pro8746Thr)
c.1723C>A
c.2098C>A
c.1965C>A
c.2230C>A (n.2230C>A)
c.25165C>A (p.Pro8389Thr)
n.3128C>A
c.5156C>A (n.5156C>A)
n.10072C>A
c.4259C>A (n.4259C>A)
n.9964C>A
c.851-2816G>T (n.851-2816G>T)
n.2994C>A
n.7017C>A
c.2845C>A (p.Pro949Thr)
c.26527C>A (p.Pro8843Thr)
c.26515C>A (p.Pro8839Thr)
c.26506C>A (p.Pro8836Thr)
c.26485C>A (p.Pro8829Thr)
c.26476C>A (p.Pro8826Thr)
c.26470C>A (p.Pro8824Thr)
c.26458C>A (p.Pro8820Thr)
c.26455C>A (p.Pro8819Thr)
c.26416C>A (p.Pro8806Thr)
c.26401C>A (p.Pro8801Thr)
c.26386C>A (p.Pro8796Thr)
c.26374C>A (p.Pro8792Thr)
c.26371C>A (p.Pro8791Thr)
c.26368C>A (p.Pro8790Thr)
c.*191C>A (n.*191C>A)
c.26524C>A (p.Pro8842Thr)
c.26512C>A (p.Pro8838Thr)
c.26362C>A (p.Pro8788Thr)
c.24802C>A (p.Pro8268Thr)
c.24295C>A (p.Pro8099Thr)
c.19762C>A (p.Pro6588Thr)
c.26500C>A (p.Pro8834Thr)
c.26449C>A (p.Pro8817Thr)
c.26413C>A (p.Pro8805Thr)
c.26260C>A (p.Pro8754Thr)
6g.152122451G>ACA452969427ESR1,SYNE1c.2913C>T (p.Gly971=)
c.26379C>T (p.Gly8793=)
c.26235C>T (p.Gly8745=)
c.1722C>T
c.2097C>T
c.1964C>T
c.2229C>T (n.2229C>T)
c.25164C>T (p.Gly8388=)
n.3127C>T
c.5155C>T (n.5155C>T)
n.10071C>T
c.4258C>T (n.4258C>T)
n.9963C>T
c.851-2815G>A (n.851-2815G>A)
n.2993C>T
n.7016C>T
c.2844C>T (p.Gly948=)
c.26526C>T (p.Gly8842=)
c.26514C>T (p.Gly8838=)
c.26505C>T (p.Gly8835=)
c.26484C>T (p.Gly8828=)
c.26475C>T (p.Gly8825=)
c.26469C>T (p.Gly8823=)
c.26457C>T (p.Gly8819=)
c.26454C>T (p.Gly8818=)
c.26415C>T (p.Gly8805=)
c.26400C>T (p.Gly8800=)
c.26385C>T (p.Gly8795=)
c.26373C>T (p.Gly8791=)
c.26370C>T (p.Gly8790=)
c.26367C>T (p.Gly8789=)
c.*190C>T (n.*190C>T)
c.26523C>T (p.Gly8841=)
c.26511C>T (p.Gly8837=)
c.26361C>T (p.Gly8787=)
c.24801C>T (p.Gly8267=)
c.24294C>T (p.Gly8098=)
c.19761C>T (p.Gly6587=)
c.26499C>T (p.Gly8833=)
c.26448C>T (p.Gly8816=)
c.26412C>T (p.Gly8804=)
c.26259C>T (p.Gly8753=)
6g.152122451G>CCA452969428ESR1,SYNE1c.2913C>G (p.Gly971=)
c.26379C>G (p.Gly8793=)
c.26235C>G (p.Gly8745=)
c.1722C>G
c.2097C>G
c.1964C>G
c.2229C>G (n.2229C>G)
c.25164C>G (p.Gly8388=)
n.3127C>G
c.5155C>G (n.5155C>G)
n.10071C>G
c.4258C>G (n.4258C>G)
n.9963C>G
c.851-2815G>C (n.851-2815G>C)
n.2993C>G
n.7016C>G
c.2844C>G (p.Gly948=)
c.26526C>G (p.Gly8842=)
c.26514C>G (p.Gly8838=)
c.26505C>G (p.Gly8835=)
c.26484C>G (p.Gly8828=)
c.26475C>G (p.Gly8825=)
c.26469C>G (p.Gly8823=)
c.26457C>G (p.Gly8819=)
c.26454C>G (p.Gly8818=)
c.26415C>G (p.Gly8805=)
c.26400C>G (p.Gly8800=)
c.26385C>G (p.Gly8795=)
c.26373C>G (p.Gly8791=)
c.26370C>G (p.Gly8790=)
c.26367C>G (p.Gly8789=)
c.*190C>G (n.*190C>G)
c.26523C>G (p.Gly8841=)
c.26511C>G (p.Gly8837=)
c.26361C>G (p.Gly8787=)
c.24801C>G (p.Gly8267=)
c.24294C>G (p.Gly8098=)
c.19761C>G (p.Gly6587=)
c.26499C>G (p.Gly8833=)
c.26448C>G (p.Gly8816=)
c.26412C>G (p.Gly8804=)
c.26259C>G (p.Gly8753=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122451G=CA1673188719ESR1,SYNE1c.2913C= (p.Gly971=)
c.26379C= (p.Gly8793=)
c.26235C= (p.Gly8745=)
c.1722C=
c.2097C=
c.1964C=
c.2229C= (n.2229C=)
c.25164C= (p.Gly8388=)
n.3127C=
c.5155C= (n.5155C=)
n.10071C=
c.4258C= (n.4258C=)
n.9963C=
c.851-2815G= (n.851-2815G=)
n.2993C=
n.7016C=
c.2844C= (p.Gly948=)
c.26526C= (p.Gly8842=)
c.26514C= (p.Gly8838=)
c.26505C= (p.Gly8835=)
c.26484C= (p.Gly8828=)
c.26475C= (p.Gly8825=)
c.26469C= (p.Gly8823=)
c.26457C= (p.Gly8819=)
c.26454C= (p.Gly8818=)
c.26415C= (p.Gly8805=)
c.26400C= (p.Gly8800=)
c.26385C= (p.Gly8795=)
c.26373C= (p.Gly8791=)
c.26370C= (p.Gly8790=)
c.26367C= (p.Gly8789=)
c.*190C= (n.*190C=)
c.26523C= (p.Gly8841=)
c.26511C= (p.Gly8837=)
c.26361C= (p.Gly8787=)
c.24801C= (p.Gly8267=)
c.24294C= (p.Gly8098=)
c.19761C= (p.Gly6587=)
c.26499C= (p.Gly8833=)
c.26448C= (p.Gly8816=)
c.26412C= (p.Gly8804=)
c.26259C= (p.Gly8753=)
6g.152122451G>TCA452969430ESR1,SYNE1c.2913C>A (p.Gly971=)
c.26379C>A (p.Gly8793=)
c.26235C>A (p.Gly8745=)
c.1722C>A
c.2097C>A
c.1964C>A
c.2229C>A (n.2229C>A)
c.25164C>A (p.Gly8388=)
n.3127C>A
c.5155C>A (n.5155C>A)
n.10071C>A
c.4258C>A (n.4258C>A)
n.9963C>A
c.851-2815G>T (n.851-2815G>T)
n.2993C>A
n.7016C>A
c.2844C>A (p.Gly948=)
c.26526C>A (p.Gly8842=)
c.26514C>A (p.Gly8838=)
c.26505C>A (p.Gly8835=)
c.26484C>A (p.Gly8828=)
c.26475C>A (p.Gly8825=)
c.26469C>A (p.Gly8823=)
c.26457C>A (p.Gly8819=)
c.26454C>A (p.Gly8818=)
c.26415C>A (p.Gly8805=)
c.26400C>A (p.Gly8800=)
c.26385C>A (p.Gly8795=)
c.26373C>A (p.Gly8791=)
c.26370C>A (p.Gly8790=)
c.26367C>A (p.Gly8789=)
c.*190C>A (n.*190C>A)
c.26523C>A (p.Gly8841=)
c.26511C>A (p.Gly8837=)
c.26361C>A (p.Gly8787=)
c.24801C>A (p.Gly8267=)
c.24294C>A (p.Gly8098=)
c.19761C>A (p.Gly6587=)
c.26499C>A (p.Gly8833=)
c.26448C>A (p.Gly8816=)
c.26412C>A (p.Gly8804=)
c.26259C>A (p.Gly8753=)
6g.152122452C>ACA366088436ESR1,SYNE1c.2912G>T (p.Gly971Val)
c.26378G>T (p.Gly8793Val)
c.26234G>T (p.Gly8745Val)
c.1721G>T
c.2096G>T
c.1963G>T
c.2228G>T (n.2228G>T)
c.25163G>T (p.Gly8388Val)
n.3126G>T
c.5154G>T (n.5154G>T)
n.10070G>T
c.4257G>T (n.4257G>T)
n.9962G>T
c.851-2814C>A (n.851-2814C>A)
n.2992G>T
n.7015G>T
c.2843G>T (p.Gly948Val)
c.26525G>T (p.Gly8842Val)
c.26513G>T (p.Gly8838Val)
c.26504G>T (p.Gly8835Val)
c.26483G>T (p.Gly8828Val)
c.26474G>T (p.Gly8825Val)
c.26468G>T (p.Gly8823Val)
c.26456G>T (p.Gly8819Val)
c.26453G>T (p.Gly8818Val)
c.26414G>T (p.Gly8805Val)
c.26399G>T (p.Gly8800Val)
c.26384G>T (p.Gly8795Val)
c.26372G>T (p.Gly8791Val)
c.26369G>T (p.Gly8790Val)
c.26366G>T (p.Gly8789Val)
c.*189G>T (n.*189G>T)
c.26522G>T (p.Gly8841Val)
c.26510G>T (p.Gly8837Val)
c.26360G>T (p.Gly8787Val)
c.24800G>T (p.Gly8267Val)
c.24293G>T (p.Gly8098Val)
c.19760G>T (p.Gly6587Val)
c.26498G>T (p.Gly8833Val)
c.26447G>T (p.Gly8816Val)
c.26411G>T (p.Gly8804Val)
c.26258G>T (p.Gly8753Val)
 gnomAD v4
6g.152122452C=CA1673188723ESR1,SYNE1c.2912G= (p.Gly971=)
c.26378G= (p.Gly8793=)
c.26234G= (p.Gly8745=)
c.1721G=
c.2096G=
c.1963G=
c.2228G= (n.2228G=)
c.25163G= (p.Gly8388=)
n.3126G=
c.5154G= (n.5154G=)
n.10070G=
c.4257G= (n.4257G=)
n.9962G=
c.851-2814C= (n.851-2814C=)
n.2992G=
n.7015G=
c.2843G= (p.Gly948=)
c.26525G= (p.Gly8842=)
c.26513G= (p.Gly8838=)
c.26504G= (p.Gly8835=)
c.26483G= (p.Gly8828=)
c.26474G= (p.Gly8825=)
c.26468G= (p.Gly8823=)
c.26456G= (p.Gly8819=)
c.26453G= (p.Gly8818=)
c.26414G= (p.Gly8805=)
c.26399G= (p.Gly8800=)
c.26384G= (p.Gly8795=)
c.26372G= (p.Gly8791=)
c.26369G= (p.Gly8790=)
c.26366G= (p.Gly8789=)
c.*189G= (n.*189G=)
c.26522G= (p.Gly8841=)
c.26510G= (p.Gly8837=)
c.26360G= (p.Gly8787=)
c.24800G= (p.Gly8267=)
c.24293G= (p.Gly8098=)
c.19760G= (p.Gly6587=)
c.26498G= (p.Gly8833=)
c.26447G= (p.Gly8816=)
c.26411G= (p.Gly8804=)
c.26258G= (p.Gly8753=)
6g.152122452C>GCA366088437ESR1,SYNE1c.2912G>C (p.Gly971Ala)
c.26378G>C (p.Gly8793Ala)
c.26234G>C (p.Gly8745Ala)
c.1721G>C
c.2096G>C
c.1963G>C
c.2228G>C (n.2228G>C)
c.25163G>C (p.Gly8388Ala)
n.3126G>C
c.5154G>C (n.5154G>C)
n.10070G>C
c.4257G>C (n.4257G>C)
n.9962G>C
c.851-2814C>G (n.851-2814C>G)
n.2992G>C
n.7015G>C
c.2843G>C (p.Gly948Ala)
c.26525G>C (p.Gly8842Ala)
c.26513G>C (p.Gly8838Ala)
c.26504G>C (p.Gly8835Ala)
c.26483G>C (p.Gly8828Ala)
c.26474G>C (p.Gly8825Ala)
c.26468G>C (p.Gly8823Ala)
c.26456G>C (p.Gly8819Ala)
c.26453G>C (p.Gly8818Ala)
c.26414G>C (p.Gly8805Ala)
c.26399G>C (p.Gly8800Ala)
c.26384G>C (p.Gly8795Ala)
c.26372G>C (p.Gly8791Ala)
c.26369G>C (p.Gly8790Ala)
c.26366G>C (p.Gly8789Ala)
c.*189G>C (n.*189G>C)
c.26522G>C (p.Gly8841Ala)
c.26510G>C (p.Gly8837Ala)
c.26360G>C (p.Gly8787Ala)
c.24800G>C (p.Gly8267Ala)
c.24293G>C (p.Gly8098Ala)
c.19760G>C (p.Gly6587Ala)
c.26498G>C (p.Gly8833Ala)
c.26447G>C (p.Gly8816Ala)
c.26411G>C (p.Gly8804Ala)
c.26258G>C (p.Gly8753Ala)
6g.152122452C>TCA366088438ESR1,SYNE1c.2912G>A (p.Gly971Asp)
c.26378G>A (p.Gly8793Asp)
c.26234G>A (p.Gly8745Asp)
c.1721G>A
c.2096G>A
c.1963G>A
c.2228G>A (n.2228G>A)
c.25163G>A (p.Gly8388Asp)
n.3126G>A
c.5154G>A (n.5154G>A)
n.10070G>A
c.4257G>A (n.4257G>A)
n.9962G>A
c.851-2814C>T (n.851-2814C>T)
n.2992G>A
n.7015G>A
c.2843G>A (p.Gly948Asp)
c.26525G>A (p.Gly8842Asp)
c.26513G>A (p.Gly8838Asp)
c.26504G>A (p.Gly8835Asp)
c.26483G>A (p.Gly8828Asp)
c.26474G>A (p.Gly8825Asp)
c.26468G>A (p.Gly8823Asp)
c.26456G>A (p.Gly8819Asp)
c.26453G>A (p.Gly8818Asp)
c.26414G>A (p.Gly8805Asp)
c.26399G>A (p.Gly8800Asp)
c.26384G>A (p.Gly8795Asp)
c.26372G>A (p.Gly8791Asp)
c.26369G>A (p.Gly8790Asp)
c.26366G>A (p.Gly8789Asp)
c.*189G>A (n.*189G>A)
c.26522G>A (p.Gly8841Asp)
c.26510G>A (p.Gly8837Asp)
c.26360G>A (p.Gly8787Asp)
c.24800G>A (p.Gly8267Asp)
c.24293G>A (p.Gly8098Asp)
c.19760G>A (p.Gly6587Asp)
c.26498G>A (p.Gly8833Asp)
c.26447G>A (p.Gly8816Asp)
c.26411G>A (p.Gly8804Asp)
c.26258G>A (p.Gly8753Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.152122453C>ACA4052574ESR1,SYNE1c.2911G>T (p.Gly971Cys)
c.26377G>T (p.Gly8793Cys)
c.26233G>T (p.Gly8745Cys)
c.1720G>T
c.2095G>T
c.1962G>T
c.2227G>T (n.2227G>T)
c.25162G>T (p.Gly8388Cys)
n.3125G>T
c.5153G>T (n.5153G>T)
n.10069G>T
c.4256G>T (n.4256G>T)
n.9961G>T
c.851-2813C>A (n.851-2813C>A)
n.2991G>T
n.7014G>T
c.2842G>T (p.Gly948Cys)
c.26524G>T (p.Gly8842Cys)
c.26512G>T (p.Gly8838Cys)
c.26503G>T (p.Gly8835Cys)
c.26482G>T (p.Gly8828Cys)
c.26473G>T (p.Gly8825Cys)
c.26467G>T (p.Gly8823Cys)
c.26455G>T (p.Gly8819Cys)
c.26452G>T (p.Gly8818Cys)
c.26413G>T (p.Gly8805Cys)
c.26398G>T (p.Gly8800Cys)
c.26383G>T (p.Gly8795Cys)
c.26371G>T (p.Gly8791Cys)
c.26368G>T (p.Gly8790Cys)
c.26365G>T (p.Gly8789Cys)
c.*188G>T (n.*188G>T)
c.26521G>T (p.Gly8841Cys)
c.26509G>T (p.Gly8837Cys)
c.26359G>T (p.Gly8787Cys)
c.24799G>T (p.Gly8267Cys)
c.24292G>T (p.Gly8098Cys)
c.19759G>T (p.Gly6587Cys)
c.26497G>T (p.Gly8833Cys)
c.26446G>T (p.Gly8816Cys)
c.26410G>T (p.Gly8804Cys)
c.26257G>T (p.Gly8753Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122453C=CA1673188727ESR1,SYNE1c.2911G= (p.Gly971=)
c.26377G= (p.Gly8793=)
c.26233G= (p.Gly8745=)
c.1720G=
c.2095G=
c.1962G=
c.2227G= (n.2227G=)
c.25162G= (p.Gly8388=)
n.3125G=
c.5153G= (n.5153G=)
n.10069G=
c.4256G= (n.4256G=)
n.9961G=
c.851-2813C= (n.851-2813C=)
n.2991G=
n.7014G=
c.2842G= (p.Gly948=)
c.26524G= (p.Gly8842=)
c.26512G= (p.Gly8838=)
c.26503G= (p.Gly8835=)
c.26482G= (p.Gly8828=)
c.26473G= (p.Gly8825=)
c.26467G= (p.Gly8823=)
c.26455G= (p.Gly8819=)
c.26452G= (p.Gly8818=)
c.26413G= (p.Gly8805=)
c.26398G= (p.Gly8800=)
c.26383G= (p.Gly8795=)
c.26371G= (p.Gly8791=)
c.26368G= (p.Gly8790=)
c.26365G= (p.Gly8789=)
c.*188G= (n.*188G=)
c.26521G= (p.Gly8841=)
c.26509G= (p.Gly8837=)
c.26359G= (p.Gly8787=)
c.24799G= (p.Gly8267=)
c.24292G= (p.Gly8098=)
c.19759G= (p.Gly6587=)
c.26497G= (p.Gly8833=)
c.26446G= (p.Gly8816=)
c.26410G= (p.Gly8804=)
c.26257G= (p.Gly8753=)
6g.152122453C>GCA366088439ESR1,SYNE1c.2911G>C (p.Gly971Arg)
c.26377G>C (p.Gly8793Arg)
c.26233G>C (p.Gly8745Arg)
c.1720G>C
c.2095G>C
c.1962G>C
c.2227G>C (n.2227G>C)
c.25162G>C (p.Gly8388Arg)
n.3125G>C
c.5153G>C (n.5153G>C)
n.10069G>C
c.4256G>C (n.4256G>C)
n.9961G>C
c.851-2813C>G (n.851-2813C>G)
n.2991G>C
n.7014G>C
c.2842G>C (p.Gly948Arg)
c.26524G>C (p.Gly8842Arg)
c.26512G>C (p.Gly8838Arg)
c.26503G>C (p.Gly8835Arg)
c.26482G>C (p.Gly8828Arg)
c.26473G>C (p.Gly8825Arg)
c.26467G>C (p.Gly8823Arg)
c.26455G>C (p.Gly8819Arg)
c.26452G>C (p.Gly8818Arg)
c.26413G>C (p.Gly8805Arg)
c.26398G>C (p.Gly8800Arg)
c.26383G>C (p.Gly8795Arg)
c.26371G>C (p.Gly8791Arg)
c.26368G>C (p.Gly8790Arg)
c.26365G>C (p.Gly8789Arg)
c.*188G>C (n.*188G>C)
c.26521G>C (p.Gly8841Arg)
c.26509G>C (p.Gly8837Arg)
c.26359G>C (p.Gly8787Arg)
c.24799G>C (p.Gly8267Arg)
c.24292G>C (p.Gly8098Arg)
c.19759G>C (p.Gly6587Arg)
c.26497G>C (p.Gly8833Arg)
c.26446G>C (p.Gly8816Arg)
c.26410G>C (p.Gly8804Arg)
c.26257G>C (p.Gly8753Arg)
6g.152122453C>TCA366088440ESR1,SYNE1c.2911G>A (p.Gly971Ser)
c.26377G>A (p.Gly8793Ser)
c.26233G>A (p.Gly8745Ser)
c.1720G>A
c.2095G>A
c.1962G>A
c.2227G>A (n.2227G>A)
c.25162G>A (p.Gly8388Ser)
n.3125G>A
c.5153G>A (n.5153G>A)
n.10069G>A
c.4256G>A (n.4256G>A)
n.9961G>A
c.851-2813C>T (n.851-2813C>T)
n.2991G>A
n.7014G>A
c.2842G>A (p.Gly948Ser)
c.26524G>A (p.Gly8842Ser)
c.26512G>A (p.Gly8838Ser)
c.26503G>A (p.Gly8835Ser)
c.26482G>A (p.Gly8828Ser)
c.26473G>A (p.Gly8825Ser)
c.26467G>A (p.Gly8823Ser)
c.26455G>A (p.Gly8819Ser)
c.26452G>A (p.Gly8818Ser)
c.26413G>A (p.Gly8805Ser)
c.26398G>A (p.Gly8800Ser)
c.26383G>A (p.Gly8795Ser)
c.26371G>A (p.Gly8791Ser)
c.26368G>A (p.Gly8790Ser)
c.26365G>A (p.Gly8789Ser)
c.*188G>A (n.*188G>A)
c.26521G>A (p.Gly8841Ser)
c.26509G>A (p.Gly8837Ser)
c.26359G>A (p.Gly8787Ser)
c.24799G>A (p.Gly8267Ser)
c.24292G>A (p.Gly8098Ser)
c.19759G>A (p.Gly6587Ser)
c.26497G>A (p.Gly8833Ser)
c.26446G>A (p.Gly8816Ser)
c.26410G>A (p.Gly8804Ser)
c.26257G>A (p.Gly8753Ser)
6g.152122454A>CCA366088441ESR1,SYNE1c.2910T>G (p.Asn970Lys)
c.26376T>G (p.Asn8792Lys)
c.26232T>G (p.Asn8744Lys)
c.1719T>G
c.2094T>G
c.1961T>G
c.2226T>G (n.2226T>G)
c.25161T>G (p.Asn8387Lys)
n.3124T>G
c.5152T>G (n.5152T>G)
n.10068T>G
c.4255T>G (n.4255T>G)
n.9960T>G
c.851-2812A>C (n.851-2812A>C)
n.2990T>G
n.7013T>G
c.2841T>G (p.Asn947Lys)
c.26523T>G (p.Asn8841Lys)
c.26511T>G (p.Asn8837Lys)
c.26502T>G (p.Asn8834Lys)
c.26481T>G (p.Asn8827Lys)
c.26472T>G (p.Asn8824Lys)
c.26466T>G (p.Asn8822Lys)
c.26454T>G (p.Asn8818Lys)
c.26451T>G (p.Asn8817Lys)
c.26412T>G (p.Asn8804Lys)
c.26397T>G (p.Asn8799Lys)
c.26382T>G (p.Asn8794Lys)
c.26370T>G (p.Asn8790Lys)
c.26367T>G (p.Asn8789Lys)
c.26364T>G (p.Asn8788Lys)
c.*187T>G (n.*187T>G)
c.26520T>G (p.Asn8840Lys)
c.26508T>G (p.Asn8836Lys)
c.26358T>G (p.Asn8786Lys)
c.24798T>G (p.Asn8266Lys)
c.24291T>G (p.Asn8097Lys)
c.19758T>G (p.Asn6586Lys)
c.26496T>G (p.Asn8832Lys)
c.26445T>G (p.Asn8815Lys)
c.26409T>G (p.Asn8803Lys)
c.26256T>G (p.Asn8752Lys)
6g.152122454A>GCA452969449ESR1,SYNE1c.2910T>C (p.Asn970=)
c.26376T>C (p.Asn8792=)
c.26232T>C (p.Asn8744=)
c.1719T>C
c.2094T>C
c.1961T>C
c.2226T>C (n.2226T>C)
c.25161T>C (p.Asn8387=)
n.3124T>C
c.5152T>C (n.5152T>C)
n.10068T>C
c.4255T>C (n.4255T>C)
n.9960T>C
c.851-2812A>G (n.851-2812A>G)
n.2990T>C
n.7013T>C
c.2841T>C (p.Asn947=)
c.26523T>C (p.Asn8841=)
c.26511T>C (p.Asn8837=)
c.26502T>C (p.Asn8834=)
c.26481T>C (p.Asn8827=)
c.26472T>C (p.Asn8824=)
c.26466T>C (p.Asn8822=)
c.26454T>C (p.Asn8818=)
c.26451T>C (p.Asn8817=)
c.26412T>C (p.Asn8804=)
c.26397T>C (p.Asn8799=)
c.26382T>C (p.Asn8794=)
c.26370T>C (p.Asn8790=)
c.26367T>C (p.Asn8789=)
c.26364T>C (p.Asn8788=)
c.*187T>C (n.*187T>C)
c.26520T>C (p.Asn8840=)
c.26508T>C (p.Asn8836=)
c.26358T>C (p.Asn8786=)
c.24798T>C (p.Asn8266=)
c.24291T>C (p.Asn8097=)
c.19758T>C (p.Asn6586=)
c.26496T>C (p.Asn8832=)
c.26445T>C (p.Asn8815=)
c.26409T>C (p.Asn8803=)
c.26256T>C (p.Asn8752=)
 ClinVar dbSNP gnomAD v4
6g.152122454A>TCA366088442ESR1,SYNE1c.2910T>A (p.Asn970Lys)
c.26376T>A (p.Asn8792Lys)
c.26232T>A (p.Asn8744Lys)
c.1719T>A
c.2094T>A
c.1961T>A
c.2226T>A (n.2226T>A)
c.25161T>A (p.Asn8387Lys)
n.3124T>A
c.5152T>A (n.5152T>A)
n.10068T>A
c.4255T>A (n.4255T>A)
n.9960T>A
c.851-2812A>T (n.851-2812A>T)
n.2990T>A
n.7013T>A
c.2841T>A (p.Asn947Lys)
c.26523T>A (p.Asn8841Lys)
c.26511T>A (p.Asn8837Lys)
c.26502T>A (p.Asn8834Lys)
c.26481T>A (p.Asn8827Lys)
c.26472T>A (p.Asn8824Lys)
c.26466T>A (p.Asn8822Lys)
c.26454T>A (p.Asn8818Lys)
c.26451T>A (p.Asn8817Lys)
c.26412T>A (p.Asn8804Lys)
c.26397T>A (p.Asn8799Lys)
c.26382T>A (p.Asn8794Lys)
c.26370T>A (p.Asn8790Lys)
c.26367T>A (p.Asn8789Lys)
c.26364T>A (p.Asn8788Lys)
c.*187T>A (n.*187T>A)
c.26520T>A (p.Asn8840Lys)
c.26508T>A (p.Asn8836Lys)
c.26358T>A (p.Asn8786Lys)
c.24798T>A (p.Asn8266Lys)
c.24291T>A (p.Asn8097Lys)
c.19758T>A (p.Asn6586Lys)
c.26496T>A (p.Asn8832Lys)
c.26445T>A (p.Asn8815Lys)
c.26409T>A (p.Asn8803Lys)
c.26256T>A (p.Asn8752Lys)
6g.152122455T>ACA366088443ESR1,SYNE1c.2909A>T (p.Asn970Ile)
c.26375A>T (p.Asn8792Ile)
c.26231A>T (p.Asn8744Ile)
c.1718A>T
c.2093A>T
c.1960A>T
c.2225A>T (n.2225A>T)
c.25160A>T (p.Asn8387Ile)
n.3123A>T
c.5151A>T (n.5151A>T)
n.10067A>T
c.4254A>T (n.4254A>T)
n.9959A>T
c.851-2811T>A (n.851-2811T>A)
n.2989A>T
n.7012A>T
c.2840A>T (p.Asn947Ile)
c.26522A>T (p.Asn8841Ile)
c.26510A>T (p.Asn8837Ile)
c.26501A>T (p.Asn8834Ile)
c.26480A>T (p.Asn8827Ile)
c.26471A>T (p.Asn8824Ile)
c.26465A>T (p.Asn8822Ile)
c.26453A>T (p.Asn8818Ile)
c.26450A>T (p.Asn8817Ile)
c.26411A>T (p.Asn8804Ile)
c.26396A>T (p.Asn8799Ile)
c.26381A>T (p.Asn8794Ile)
c.26369A>T (p.Asn8790Ile)
c.26366A>T (p.Asn8789Ile)
c.26363A>T (p.Asn8788Ile)
c.*186A>T (n.*186A>T)
c.26519A>T (p.Asn8840Ile)
c.26507A>T (p.Asn8836Ile)
c.26357A>T (p.Asn8786Ile)
c.24797A>T (p.Asn8266Ile)
c.24290A>T (p.Asn8097Ile)
c.19757A>T (p.Asn6586Ile)
c.26495A>T (p.Asn8832Ile)
c.26444A>T (p.Asn8815Ile)
c.26408A>T (p.Asn8803Ile)
c.26255A>T (p.Asn8752Ile)
6g.152122455T>CCA4052575ESR1,SYNE1c.2909A>G (p.Asn970Ser)
c.26375A>G (p.Asn8792Ser)
c.26231A>G (p.Asn8744Ser)
c.1718A>G
c.2093A>G
c.1960A>G
c.2225A>G (n.2225A>G)
c.25160A>G (p.Asn8387Ser)
n.3123A>G
c.5151A>G (n.5151A>G)
n.10067A>G
c.4254A>G (n.4254A>G)
n.9959A>G
c.851-2811T>C (n.851-2811T>C)
n.2989A>G
n.7012A>G
c.2840A>G (p.Asn947Ser)
c.26522A>G (p.Asn8841Ser)
c.26510A>G (p.Asn8837Ser)
c.26501A>G (p.Asn8834Ser)
c.26480A>G (p.Asn8827Ser)
c.26471A>G (p.Asn8824Ser)
c.26465A>G (p.Asn8822Ser)
c.26453A>G (p.Asn8818Ser)
c.26450A>G (p.Asn8817Ser)
c.26411A>G (p.Asn8804Ser)
c.26396A>G (p.Asn8799Ser)
c.26381A>G (p.Asn8794Ser)
c.26369A>G (p.Asn8790Ser)
c.26366A>G (p.Asn8789Ser)
c.26363A>G (p.Asn8788Ser)
c.*186A>G (n.*186A>G)
c.26519A>G (p.Asn8840Ser)
c.26507A>G (p.Asn8836Ser)
c.26357A>G (p.Asn8786Ser)
c.24797A>G (p.Asn8266Ser)
c.24290A>G (p.Asn8097Ser)
c.19757A>G (p.Asn6586Ser)
c.26495A>G (p.Asn8832Ser)
c.26444A>G (p.Asn8815Ser)
c.26408A>G (p.Asn8803Ser)
c.26255A>G (p.Asn8752Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122455T>GCA366088444ESR1,SYNE1c.2909A>C (p.Asn970Thr)
c.26375A>C (p.Asn8792Thr)
c.26231A>C (p.Asn8744Thr)
c.1718A>C
c.2093A>C
c.1960A>C
c.2225A>C (n.2225A>C)
c.25160A>C (p.Asn8387Thr)
n.3123A>C
c.5151A>C (n.5151A>C)
n.10067A>C
c.4254A>C (n.4254A>C)
n.9959A>C
c.851-2811T>G (n.851-2811T>G)
n.2989A>C
n.7012A>C
c.2840A>C (p.Asn947Thr)
c.26522A>C (p.Asn8841Thr)
c.26510A>C (p.Asn8837Thr)
c.26501A>C (p.Asn8834Thr)
c.26480A>C (p.Asn8827Thr)
c.26471A>C (p.Asn8824Thr)
c.26465A>C (p.Asn8822Thr)
c.26453A>C (p.Asn8818Thr)
c.26450A>C (p.Asn8817Thr)
c.26411A>C (p.Asn8804Thr)
c.26396A>C (p.Asn8799Thr)
c.26381A>C (p.Asn8794Thr)
c.26369A>C (p.Asn8790Thr)
c.26366A>C (p.Asn8789Thr)
c.26363A>C (p.Asn8788Thr)
c.*186A>C (n.*186A>C)
c.26519A>C (p.Asn8840Thr)
c.26507A>C (p.Asn8836Thr)
c.26357A>C (p.Asn8786Thr)
c.24797A>C (p.Asn8266Thr)
c.24290A>C (p.Asn8097Thr)
c.19757A>C (p.Asn6586Thr)
c.26495A>C (p.Asn8832Thr)
c.26444A>C (p.Asn8815Thr)
c.26408A>C (p.Asn8803Thr)
c.26255A>C (p.Asn8752Thr)
6g.152122455T=CA1673188737ESR1,SYNE1c.2909A= (p.Asn970=)
c.26375A= (p.Asn8792=)
c.26231A= (p.Asn8744=)
c.1718A=
c.2093A=
c.1960A=
c.2225A= (n.2225A=)
c.25160A= (p.Asn8387=)
n.3123A=
c.5151A= (n.5151A=)
n.10067A=
c.4254A= (n.4254A=)
n.9959A=
c.851-2811T= (n.851-2811T=)
n.2989A=
n.7012A=
c.2840A= (p.Asn947=)
c.26522A= (p.Asn8841=)
c.26510A= (p.Asn8837=)
c.26501A= (p.Asn8834=)
c.26480A= (p.Asn8827=)
c.26471A= (p.Asn8824=)
c.26465A= (p.Asn8822=)
c.26453A= (p.Asn8818=)
c.26450A= (p.Asn8817=)
c.26411A= (p.Asn8804=)
c.26396A= (p.Asn8799=)
c.26381A= (p.Asn8794=)
c.26369A= (p.Asn8790=)
c.26366A= (p.Asn8789=)
c.26363A= (p.Asn8788=)
c.*186A= (n.*186A=)
c.26519A= (p.Asn8840=)
c.26507A= (p.Asn8836=)
c.26357A= (p.Asn8786=)
c.24797A= (p.Asn8266=)
c.24290A= (p.Asn8097=)
c.19757A= (p.Asn6586=)
c.26495A= (p.Asn8832=)
c.26444A= (p.Asn8815=)
c.26408A= (p.Asn8803=)
c.26255A= (p.Asn8752=)
6g.152122456T>ACA366088445ESR1,SYNE1c.2908A>T (p.Asn970Tyr)
c.26374A>T (p.Asn8792Tyr)
c.26230A>T (p.Asn8744Tyr)
c.1717A>T
c.2092A>T
c.1959A>T
c.2224A>T (n.2224A>T)
c.25159A>T (p.Asn8387Tyr)
n.3122A>T
c.5150A>T (n.5150A>T)
n.10066A>T
c.4253A>T (n.4253A>T)
n.9958A>T
c.851-2810T>A (n.851-2810T>A)
n.2988A>T
n.7011A>T
c.2839A>T (p.Asn947Tyr)
c.26521A>T (p.Asn8841Tyr)
c.26509A>T (p.Asn8837Tyr)
c.26500A>T (p.Asn8834Tyr)
c.26479A>T (p.Asn8827Tyr)
c.26470A>T (p.Asn8824Tyr)
c.26464A>T (p.Asn8822Tyr)
c.26452A>T (p.Asn8818Tyr)
c.26449A>T (p.Asn8817Tyr)
c.26410A>T (p.Asn8804Tyr)
c.26395A>T (p.Asn8799Tyr)
c.26380A>T (p.Asn8794Tyr)
c.26368A>T (p.Asn8790Tyr)
c.26365A>T (p.Asn8789Tyr)
c.26362A>T (p.Asn8788Tyr)
c.*185A>T (n.*185A>T)
c.26518A>T (p.Asn8840Tyr)
c.26506A>T (p.Asn8836Tyr)
c.26356A>T (p.Asn8786Tyr)
c.24796A>T (p.Asn8266Tyr)
c.24289A>T (p.Asn8097Tyr)
c.19756A>T (p.Asn6586Tyr)
c.26494A>T (p.Asn8832Tyr)
c.26443A>T (p.Asn8815Tyr)
c.26407A>T (p.Asn8803Tyr)
c.26254A>T (p.Asn8752Tyr)
6g.152122456T>CCA366088446ESR1,SYNE1c.2908A>G (p.Asn970Asp)
c.26374A>G (p.Asn8792Asp)
c.26230A>G (p.Asn8744Asp)
c.1717A>G
c.2092A>G
c.1959A>G
c.2224A>G (n.2224A>G)
c.25159A>G (p.Asn8387Asp)
n.3122A>G
c.5150A>G (n.5150A>G)
n.10066A>G
c.4253A>G (n.4253A>G)
n.9958A>G
c.851-2810T>C (n.851-2810T>C)
n.2988A>G
n.7011A>G
c.2839A>G (p.Asn947Asp)
c.26521A>G (p.Asn8841Asp)
c.26509A>G (p.Asn8837Asp)
c.26500A>G (p.Asn8834Asp)
c.26479A>G (p.Asn8827Asp)
c.26470A>G (p.Asn8824Asp)
c.26464A>G (p.Asn8822Asp)
c.26452A>G (p.Asn8818Asp)
c.26449A>G (p.Asn8817Asp)
c.26410A>G (p.Asn8804Asp)
c.26395A>G (p.Asn8799Asp)
c.26380A>G (p.Asn8794Asp)
c.26368A>G (p.Asn8790Asp)
c.26365A>G (p.Asn8789Asp)
c.26362A>G (p.Asn8788Asp)
c.*185A>G (n.*185A>G)
c.26518A>G (p.Asn8840Asp)
c.26506A>G (p.Asn8836Asp)
c.26356A>G (p.Asn8786Asp)
c.24796A>G (p.Asn8266Asp)
c.24289A>G (p.Asn8097Asp)
c.19756A>G (p.Asn6586Asp)
c.26494A>G (p.Asn8832Asp)
c.26443A>G (p.Asn8815Asp)
c.26407A>G (p.Asn8803Asp)
c.26254A>G (p.Asn8752Asp)
6g.152122456T>GCA366088447ESR1,SYNE1c.2908A>C (p.Asn970His)
c.26374A>C (p.Asn8792His)
c.26230A>C (p.Asn8744His)
c.1717A>C
c.2092A>C
c.1959A>C
c.2224A>C (n.2224A>C)
c.25159A>C (p.Asn8387His)
n.3122A>C
c.5150A>C (n.5150A>C)
n.10066A>C
c.4253A>C (n.4253A>C)
n.9958A>C
c.851-2810T>G (n.851-2810T>G)
n.2988A>C
n.7011A>C
c.2839A>C (p.Asn947His)
c.26521A>C (p.Asn8841His)
c.26509A>C (p.Asn8837His)
c.26500A>C (p.Asn8834His)
c.26479A>C (p.Asn8827His)
c.26470A>C (p.Asn8824His)
c.26464A>C (p.Asn8822His)
c.26452A>C (p.Asn8818His)
c.26449A>C (p.Asn8817His)
c.26410A>C (p.Asn8804His)
c.26395A>C (p.Asn8799His)
c.26380A>C (p.Asn8794His)
c.26368A>C (p.Asn8790His)
c.26365A>C (p.Asn8789His)
c.26362A>C (p.Asn8788His)
c.*185A>C (n.*185A>C)
c.26518A>C (p.Asn8840His)
c.26506A>C (p.Asn8836His)
c.26356A>C (p.Asn8786His)
c.24796A>C (p.Asn8266His)
c.24289A>C (p.Asn8097His)
c.19756A>C (p.Asn6586His)
c.26494A>C (p.Asn8832His)
c.26443A>C (p.Asn8815His)
c.26407A>C (p.Asn8803His)
c.26254A>C (p.Asn8752His)
6g.152122457C>ACA452969462ESR1,SYNE1c.2907G>T (p.Thr969=)
c.26373G>T (p.Thr8791=)
c.26229G>T (p.Thr8743=)
c.1716G>T
c.2091G>T
c.1958G>T
c.2223G>T (n.2223G>T)
c.25158G>T (p.Thr8386=)
n.3121G>T
c.5149G>T (n.5149G>T)
n.10065G>T
c.4252G>T (n.4252G>T)
n.9957G>T
c.851-2809C>A (n.851-2809C>A)
n.2987G>T
n.7010G>T
c.2838G>T (p.Thr946=)
c.26520G>T (p.Thr8840=)
c.26508G>T (p.Thr8836=)
c.26499G>T (p.Thr8833=)
c.26478G>T (p.Thr8826=)
c.26469G>T (p.Thr8823=)
c.26463G>T (p.Thr8821=)
c.26451G>T (p.Thr8817=)
c.26448G>T (p.Thr8816=)
c.26409G>T (p.Thr8803=)
c.26394G>T (p.Thr8798=)
c.26379G>T (p.Thr8793=)
c.26367G>T (p.Thr8789=)
c.26364G>T (p.Thr8788=)
c.26361G>T (p.Thr8787=)
c.*184G>T (n.*184G>T)
c.26517G>T (p.Thr8839=)
c.26505G>T (p.Thr8835=)
c.26355G>T (p.Thr8785=)
c.24795G>T (p.Thr8265=)
c.24288G>T (p.Thr8096=)
c.19755G>T (p.Thr6585=)
c.26493G>T (p.Thr8831=)
c.26442G>T (p.Thr8814=)
c.26406G>T (p.Thr8802=)
c.26253G>T (p.Thr8751=)
6g.152122457C=CA1673188744ESR1,SYNE1c.2907G= (p.Thr969=)
c.26373G= (p.Thr8791=)
c.26229G= (p.Thr8743=)
c.1716G=
c.2091G=
c.1958G=
c.2223G= (n.2223G=)
c.25158G= (p.Thr8386=)
n.3121G=
c.5149G= (n.5149G=)
n.10065G=
c.4252G= (n.4252G=)
n.9957G=
c.851-2809C= (n.851-2809C=)
n.2987G=
n.7010G=
c.2838G= (p.Thr946=)
c.26520G= (p.Thr8840=)
c.26508G= (p.Thr8836=)
c.26499G= (p.Thr8833=)
c.26478G= (p.Thr8826=)
c.26469G= (p.Thr8823=)
c.26463G= (p.Thr8821=)
c.26451G= (p.Thr8817=)
c.26448G= (p.Thr8816=)
c.26409G= (p.Thr8803=)
c.26394G= (p.Thr8798=)
c.26379G= (p.Thr8793=)
c.26367G= (p.Thr8789=)
c.26364G= (p.Thr8788=)
c.26361G= (p.Thr8787=)
c.*184G= (n.*184G=)
c.26517G= (p.Thr8839=)
c.26505G= (p.Thr8835=)
c.26355G= (p.Thr8785=)
c.24795G= (p.Thr8265=)
c.24288G= (p.Thr8096=)
c.19755G= (p.Thr6585=)
c.26493G= (p.Thr8831=)
c.26442G= (p.Thr8814=)
c.26406G= (p.Thr8802=)
c.26253G= (p.Thr8751=)
6g.152122457C>GCA452969465ESR1,SYNE1c.2907G>C (p.Thr969=)
c.26373G>C (p.Thr8791=)
c.26229G>C (p.Thr8743=)
c.1716G>C
c.2091G>C
c.1958G>C
c.2223G>C (n.2223G>C)
c.25158G>C (p.Thr8386=)
n.3121G>C
c.5149G>C (n.5149G>C)
n.10065G>C
c.4252G>C (n.4252G>C)
n.9957G>C
c.851-2809C>G (n.851-2809C>G)
n.2987G>C
n.7010G>C
c.2838G>C (p.Thr946=)
c.26520G>C (p.Thr8840=)
c.26508G>C (p.Thr8836=)
c.26499G>C (p.Thr8833=)
c.26478G>C (p.Thr8826=)
c.26469G>C (p.Thr8823=)
c.26463G>C (p.Thr8821=)
c.26451G>C (p.Thr8817=)
c.26448G>C (p.Thr8816=)
c.26409G>C (p.Thr8803=)
c.26394G>C (p.Thr8798=)
c.26379G>C (p.Thr8793=)
c.26367G>C (p.Thr8789=)
c.26364G>C (p.Thr8788=)
c.26361G>C (p.Thr8787=)
c.*184G>C (n.*184G>C)
c.26517G>C (p.Thr8839=)
c.26505G>C (p.Thr8835=)
c.26355G>C (p.Thr8785=)
c.24795G>C (p.Thr8265=)
c.24288G>C (p.Thr8096=)
c.19755G>C (p.Thr6585=)
c.26493G>C (p.Thr8831=)
c.26442G>C (p.Thr8814=)
c.26406G>C (p.Thr8802=)
c.26253G>C (p.Thr8751=)
6g.152122457C>TCA4052576ESR1,SYNE1c.2907G>A (p.Thr969=)
c.26373G>A (p.Thr8791=)
c.26229G>A (p.Thr8743=)
c.1716G>A
c.2091G>A
c.1958G>A
c.2223G>A (n.2223G>A)
c.25158G>A (p.Thr8386=)
n.3121G>A
c.5149G>A (n.5149G>A)
n.10065G>A
c.4252G>A (n.4252G>A)
n.9957G>A
c.851-2809C>T (n.851-2809C>T)
n.2987G>A
n.7010G>A
c.2838G>A (p.Thr946=)
c.26520G>A (p.Thr8840=)
c.26508G>A (p.Thr8836=)
c.26499G>A (p.Thr8833=)
c.26478G>A (p.Thr8826=)
c.26469G>A (p.Thr8823=)
c.26463G>A (p.Thr8821=)
c.26451G>A (p.Thr8817=)
c.26448G>A (p.Thr8816=)
c.26409G>A (p.Thr8803=)
c.26394G>A (p.Thr8798=)
c.26379G>A (p.Thr8793=)
c.26367G>A (p.Thr8789=)
c.26364G>A (p.Thr8788=)
c.26361G>A (p.Thr8787=)
c.*184G>A (n.*184G>A)
c.26517G>A (p.Thr8839=)
c.26505G>A (p.Thr8835=)
c.26355G>A (p.Thr8785=)
c.24795G>A (p.Thr8265=)
c.24288G>A (p.Thr8096=)
c.19755G>A (p.Thr6585=)
c.26493G>A (p.Thr8831=)
c.26442G>A (p.Thr8814=)
c.26406G>A (p.Thr8802=)
c.26253G>A (p.Thr8751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122458G>ACA4052577ESR1,SYNE1c.2906C>T (p.Thr969Met)
c.26372C>T (p.Thr8791Met)
c.26228C>T (p.Thr8743Met)
c.1715C>T
c.2090C>T
c.1957C>T
c.2222C>T (n.2222C>T)
c.25157C>T (p.Thr8386Met)
n.3120C>T
c.5148C>T (n.5148C>T)
n.10064C>T
c.4251C>T (n.4251C>T)
n.9956C>T
c.851-2808G>A (n.851-2808G>A)
n.2986C>T
n.7009C>T
c.2837C>T (p.Thr946Met)
c.26519C>T (p.Thr8840Met)
c.26507C>T (p.Thr8836Met)
c.26498C>T (p.Thr8833Met)
c.26477C>T (p.Thr8826Met)
c.26468C>T (p.Thr8823Met)
c.26462C>T (p.Thr8821Met)
c.26450C>T (p.Thr8817Met)
c.26447C>T (p.Thr8816Met)
c.26408C>T (p.Thr8803Met)
c.26393C>T (p.Thr8798Met)
c.26378C>T (p.Thr8793Met)
c.26366C>T (p.Thr8789Met)
c.26363C>T (p.Thr8788Met)
c.26360C>T (p.Thr8787Met)
c.*183C>T (n.*183C>T)
c.26516C>T (p.Thr8839Met)
c.26504C>T (p.Thr8835Met)
c.26354C>T (p.Thr8785Met)
c.24794C>T (p.Thr8265Met)
c.24287C>T (p.Thr8096Met)
c.19754C>T (p.Thr6585Met)
c.26492C>T (p.Thr8831Met)
c.26441C>T (p.Thr8814Met)
c.26405C>T (p.Thr8802Met)
c.26252C>T (p.Thr8751Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122458G>CCA366088448ESR1,SYNE1c.2906C>G (p.Thr969Arg)
c.26372C>G (p.Thr8791Arg)
c.26228C>G (p.Thr8743Arg)
c.1715C>G
c.2090C>G
c.1957C>G
c.2222C>G (n.2222C>G)
c.25157C>G (p.Thr8386Arg)
n.3120C>G
c.5148C>G (n.5148C>G)
n.10064C>G
c.4251C>G (n.4251C>G)
n.9956C>G
c.851-2808G>C (n.851-2808G>C)
n.2986C>G
n.7009C>G
c.2837C>G (p.Thr946Arg)
c.26519C>G (p.Thr8840Arg)
c.26507C>G (p.Thr8836Arg)
c.26498C>G (p.Thr8833Arg)
c.26477C>G (p.Thr8826Arg)
c.26468C>G (p.Thr8823Arg)
c.26462C>G (p.Thr8821Arg)
c.26450C>G (p.Thr8817Arg)
c.26447C>G (p.Thr8816Arg)
c.26408C>G (p.Thr8803Arg)
c.26393C>G (p.Thr8798Arg)
c.26378C>G (p.Thr8793Arg)
c.26366C>G (p.Thr8789Arg)
c.26363C>G (p.Thr8788Arg)
c.26360C>G (p.Thr8787Arg)
c.*183C>G (n.*183C>G)
c.26516C>G (p.Thr8839Arg)
c.26504C>G (p.Thr8835Arg)
c.26354C>G (p.Thr8785Arg)
c.24794C>G (p.Thr8265Arg)
c.24287C>G (p.Thr8096Arg)
c.19754C>G (p.Thr6585Arg)
c.26492C>G (p.Thr8831Arg)
c.26441C>G (p.Thr8814Arg)
c.26405C>G (p.Thr8802Arg)
c.26252C>G (p.Thr8751Arg)
6g.152122458G=CA1673188754ESR1,SYNE1c.2906C= (p.Thr969=)
c.26372C= (p.Thr8791=)
c.26228C= (p.Thr8743=)
c.1715C=
c.2090C=
c.1957C=
c.2222C= (n.2222C=)
c.25157C= (p.Thr8386=)
n.3120C=
c.5148C= (n.5148C=)
n.10064C=
c.4251C= (n.4251C=)
n.9956C=
c.851-2808G= (n.851-2808G=)
n.2986C=
n.7009C=
c.2837C= (p.Thr946=)
c.26519C= (p.Thr8840=)
c.26507C= (p.Thr8836=)
c.26498C= (p.Thr8833=)
c.26477C= (p.Thr8826=)
c.26468C= (p.Thr8823=)
c.26462C= (p.Thr8821=)
c.26450C= (p.Thr8817=)
c.26447C= (p.Thr8816=)
c.26408C= (p.Thr8803=)
c.26393C= (p.Thr8798=)
c.26378C= (p.Thr8793=)
c.26366C= (p.Thr8789=)
c.26363C= (p.Thr8788=)
c.26360C= (p.Thr8787=)
c.*183C= (n.*183C=)
c.26516C= (p.Thr8839=)
c.26504C= (p.Thr8835=)
c.26354C= (p.Thr8785=)
c.24794C= (p.Thr8265=)
c.24287C= (p.Thr8096=)
c.19754C= (p.Thr6585=)
c.26492C= (p.Thr8831=)
c.26441C= (p.Thr8814=)
c.26405C= (p.Thr8802=)
c.26252C= (p.Thr8751=)
6g.152122458G>TCA4052578ESR1,SYNE1c.2906C>A (p.Thr969Lys)
c.26372C>A (p.Thr8791Lys)
c.26228C>A (p.Thr8743Lys)
c.1715C>A
c.2090C>A
c.1957C>A
c.2222C>A (n.2222C>A)
c.25157C>A (p.Thr8386Lys)
n.3120C>A
c.5148C>A (n.5148C>A)
n.10064C>A
c.4251C>A (n.4251C>A)
n.9956C>A
c.851-2808G>T (n.851-2808G>T)
n.2986C>A
n.7009C>A
c.2837C>A (p.Thr946Lys)
c.26519C>A (p.Thr8840Lys)
c.26507C>A (p.Thr8836Lys)
c.26498C>A (p.Thr8833Lys)
c.26477C>A (p.Thr8826Lys)
c.26468C>A (p.Thr8823Lys)
c.26462C>A (p.Thr8821Lys)
c.26450C>A (p.Thr8817Lys)
c.26447C>A (p.Thr8816Lys)
c.26408C>A (p.Thr8803Lys)
c.26393C>A (p.Thr8798Lys)
c.26378C>A (p.Thr8793Lys)
c.26366C>A (p.Thr8789Lys)
c.26363C>A (p.Thr8788Lys)
c.26360C>A (p.Thr8787Lys)
c.*183C>A (n.*183C>A)
c.26516C>A (p.Thr8839Lys)
c.26504C>A (p.Thr8835Lys)
c.26354C>A (p.Thr8785Lys)
c.24794C>A (p.Thr8265Lys)
c.24287C>A (p.Thr8096Lys)
c.19754C>A (p.Thr6585Lys)
c.26492C>A (p.Thr8831Lys)
c.26441C>A (p.Thr8814Lys)
c.26405C>A (p.Thr8802Lys)
c.26252C>A (p.Thr8751Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122459T>ACA366088449ESR1,SYNE1c.2905A>T (p.Thr969Ser)
c.26371A>T (p.Thr8791Ser)
c.26227A>T (p.Thr8743Ser)
c.1714A>T
c.2089A>T
c.1956A>T
c.2221A>T (n.2221A>T)
c.25156A>T (p.Thr8386Ser)
n.3119A>T
c.5147A>T (n.5147A>T)
n.10063A>T
c.4250A>T (n.4250A>T)
n.9955A>T
c.851-2807T>A (n.851-2807T>A)
n.2985A>T
n.7008A>T
c.2836A>T (p.Thr946Ser)
c.26518A>T (p.Thr8840Ser)
c.26506A>T (p.Thr8836Ser)
c.26497A>T (p.Thr8833Ser)
c.26476A>T (p.Thr8826Ser)
c.26467A>T (p.Thr8823Ser)
c.26461A>T (p.Thr8821Ser)
c.26449A>T (p.Thr8817Ser)
c.26446A>T (p.Thr8816Ser)
c.26407A>T (p.Thr8803Ser)
c.26392A>T (p.Thr8798Ser)
c.26377A>T (p.Thr8793Ser)
c.26365A>T (p.Thr8789Ser)
c.26362A>T (p.Thr8788Ser)
c.26359A>T (p.Thr8787Ser)
c.*182A>T (n.*182A>T)
c.26515A>T (p.Thr8839Ser)
c.26503A>T (p.Thr8835Ser)
c.26353A>T (p.Thr8785Ser)
c.24793A>T (p.Thr8265Ser)
c.24286A>T (p.Thr8096Ser)
c.19753A>T (p.Thr6585Ser)
c.26491A>T (p.Thr8831Ser)
c.26440A>T (p.Thr8814Ser)
c.26404A>T (p.Thr8802Ser)
c.26251A>T (p.Thr8751Ser)
6g.152122459T>CCA366088450ESR1,SYNE1c.2905A>G (p.Thr969Ala)
c.26371A>G (p.Thr8791Ala)
c.26227A>G (p.Thr8743Ala)
c.1714A>G
c.2089A>G
c.1956A>G
c.2221A>G (n.2221A>G)
c.25156A>G (p.Thr8386Ala)
n.3119A>G
c.5147A>G (n.5147A>G)
n.10063A>G
c.4250A>G (n.4250A>G)
n.9955A>G
c.851-2807T>C (n.851-2807T>C)
n.2985A>G
n.7008A>G
c.2836A>G (p.Thr946Ala)
c.26518A>G (p.Thr8840Ala)
c.26506A>G (p.Thr8836Ala)
c.26497A>G (p.Thr8833Ala)
c.26476A>G (p.Thr8826Ala)
c.26467A>G (p.Thr8823Ala)
c.26461A>G (p.Thr8821Ala)
c.26449A>G (p.Thr8817Ala)
c.26446A>G (p.Thr8816Ala)
c.26407A>G (p.Thr8803Ala)
c.26392A>G (p.Thr8798Ala)
c.26377A>G (p.Thr8793Ala)
c.26365A>G (p.Thr8789Ala)
c.26362A>G (p.Thr8788Ala)
c.26359A>G (p.Thr8787Ala)
c.*182A>G (n.*182A>G)
c.26515A>G (p.Thr8839Ala)
c.26503A>G (p.Thr8835Ala)
c.26353A>G (p.Thr8785Ala)
c.24793A>G (p.Thr8265Ala)
c.24286A>G (p.Thr8096Ala)
c.19753A>G (p.Thr6585Ala)
c.26491A>G (p.Thr8831Ala)
c.26440A>G (p.Thr8814Ala)
c.26404A>G (p.Thr8802Ala)
c.26251A>G (p.Thr8751Ala)
6g.152122459T>GCA366088451ESR1,SYNE1c.2905A>C (p.Thr969Pro)
c.26371A>C (p.Thr8791Pro)
c.26227A>C (p.Thr8743Pro)
c.1714A>C
c.2089A>C
c.1956A>C
c.2221A>C (n.2221A>C)
c.25156A>C (p.Thr8386Pro)
n.3119A>C
c.5147A>C (n.5147A>C)
n.10063A>C
c.4250A>C (n.4250A>C)
n.9955A>C
c.851-2807T>G (n.851-2807T>G)
n.2985A>C
n.7008A>C
c.2836A>C (p.Thr946Pro)
c.26518A>C (p.Thr8840Pro)
c.26506A>C (p.Thr8836Pro)
c.26497A>C (p.Thr8833Pro)
c.26476A>C (p.Thr8826Pro)
c.26467A>C (p.Thr8823Pro)
c.26461A>C (p.Thr8821Pro)
c.26449A>C (p.Thr8817Pro)
c.26446A>C (p.Thr8816Pro)
c.26407A>C (p.Thr8803Pro)
c.26392A>C (p.Thr8798Pro)
c.26377A>C (p.Thr8793Pro)
c.26365A>C (p.Thr8789Pro)
c.26362A>C (p.Thr8788Pro)
c.26359A>C (p.Thr8787Pro)
c.*182A>C (n.*182A>C)
c.26515A>C (p.Thr8839Pro)
c.26503A>C (p.Thr8835Pro)
c.26353A>C (p.Thr8785Pro)
c.24793A>C (p.Thr8265Pro)
c.24286A>C (p.Thr8096Pro)
c.19753A>C (p.Thr6585Pro)
c.26491A>C (p.Thr8831Pro)
c.26440A>C (p.Thr8814Pro)
c.26404A>C (p.Thr8802Pro)
c.26251A>C (p.Thr8751Pro)
6g.152122460G>ACA4052579ESR1,SYNE1c.2904C>T (p.Tyr968=)
c.26370C>T (p.Tyr8790=)
c.26226C>T (p.Tyr8742=)
c.1713C>T
c.2088C>T
c.1955C>T
c.2220C>T (n.2220C>T)
c.25155C>T (p.Tyr8385=)
n.3118C>T
c.5146C>T (n.5146C>T)
n.10062C>T
c.4249C>T (n.4249C>T)
n.9954C>T
c.851-2806G>A (n.851-2806G>A)
n.2984C>T
n.7007C>T
c.2835C>T (p.Tyr945=)
c.26517C>T (p.Tyr8839=)
c.26505C>T (p.Tyr8835=)
c.26496C>T (p.Tyr8832=)
c.26475C>T (p.Tyr8825=)
c.26466C>T (p.Tyr8822=)
c.26460C>T (p.Tyr8820=)
c.26448C>T (p.Tyr8816=)
c.26445C>T (p.Tyr8815=)
c.26406C>T (p.Tyr8802=)
c.26391C>T (p.Tyr8797=)
c.26376C>T (p.Tyr8792=)
c.26364C>T (p.Tyr8788=)
c.26361C>T (p.Tyr8787=)
c.26358C>T (p.Tyr8786=)
c.*181C>T (n.*181C>T)
c.26514C>T (p.Tyr8838=)
c.26502C>T (p.Tyr8834=)
c.26352C>T (p.Tyr8784=)
c.24792C>T (p.Tyr8264=)
c.24285C>T (p.Tyr8095=)
c.19752C>T (p.Tyr6584=)
c.26490C>T (p.Tyr8830=)
c.26439C>T (p.Tyr8813=)
c.26403C>T (p.Tyr8801=)
c.26250C>T (p.Tyr8750=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122460G>CCA366088452ESR1,SYNE1c.2904C>G (p.Tyr968Ter)
c.26370C>G (p.Tyr8790Ter)
c.26226C>G (p.Tyr8742Ter)
c.1713C>G
c.2088C>G
c.1955C>G
c.2220C>G (n.2220C>G)
c.25155C>G (p.Tyr8385Ter)
n.3118C>G
c.5146C>G (n.5146C>G)
n.10062C>G
c.4249C>G (n.4249C>G)
n.9954C>G
c.851-2806G>C (n.851-2806G>C)
n.2984C>G
n.7007C>G
c.2835C>G (p.Tyr945Ter)
c.26517C>G (p.Tyr8839Ter)
c.26505C>G (p.Tyr8835Ter)
c.26496C>G (p.Tyr8832Ter)
c.26475C>G (p.Tyr8825Ter)
c.26466C>G (p.Tyr8822Ter)
c.26460C>G (p.Tyr8820Ter)
c.26448C>G (p.Tyr8816Ter)
c.26445C>G (p.Tyr8815Ter)
c.26406C>G (p.Tyr8802Ter)
c.26391C>G (p.Tyr8797Ter)
c.26376C>G (p.Tyr8792Ter)
c.26364C>G (p.Tyr8788Ter)
c.26361C>G (p.Tyr8787Ter)
c.26358C>G (p.Tyr8786Ter)
c.*181C>G (n.*181C>G)
c.26514C>G (p.Tyr8838Ter)
c.26502C>G (p.Tyr8834Ter)
c.26352C>G (p.Tyr8784Ter)
c.24792C>G (p.Tyr8264Ter)
c.24285C>G (p.Tyr8095Ter)
c.19752C>G (p.Tyr6584Ter)
c.26490C>G (p.Tyr8830Ter)
c.26439C>G (p.Tyr8813Ter)
c.26403C>G (p.Tyr8801Ter)
c.26250C>G (p.Tyr8750Ter)
6g.152122460G=CA1673188762ESR1,SYNE1c.2904C= (p.Tyr968=)
c.26370C= (p.Tyr8790=)
c.26226C= (p.Tyr8742=)
c.1713C=
c.2088C=
c.1955C=
c.2220C= (n.2220C=)
c.25155C= (p.Tyr8385=)
n.3118C=
c.5146C= (n.5146C=)
n.10062C=
c.4249C= (n.4249C=)
n.9954C=
c.851-2806G= (n.851-2806G=)
n.2984C=
n.7007C=
c.2835C= (p.Tyr945=)
c.26517C= (p.Tyr8839=)
c.26505C= (p.Tyr8835=)
c.26496C= (p.Tyr8832=)
c.26475C= (p.Tyr8825=)
c.26466C= (p.Tyr8822=)
c.26460C= (p.Tyr8820=)
c.26448C= (p.Tyr8816=)
c.26445C= (p.Tyr8815=)
c.26406C= (p.Tyr8802=)
c.26391C= (p.Tyr8797=)
c.26376C= (p.Tyr8792=)
c.26364C= (p.Tyr8788=)
c.26361C= (p.Tyr8787=)
c.26358C= (p.Tyr8786=)
c.*181C= (n.*181C=)
c.26514C= (p.Tyr8838=)
c.26502C= (p.Tyr8834=)
c.26352C= (p.Tyr8784=)
c.24792C= (p.Tyr8264=)
c.24285C= (p.Tyr8095=)
c.19752C= (p.Tyr6584=)
c.26490C= (p.Tyr8830=)
c.26439C= (p.Tyr8813=)
c.26403C= (p.Tyr8801=)
c.26250C= (p.Tyr8750=)
6g.152122460G>TCA10604825ESR1,SYNE1c.2904C>A (p.Tyr968Ter)
c.26370C>A (p.Tyr8790Ter)
c.26226C>A (p.Tyr8742Ter)
c.1713C>A
c.2088C>A
c.1955C>A
c.2220C>A (n.2220C>A)
c.25155C>A (p.Tyr8385Ter)
n.3118C>A
c.5146C>A (n.5146C>A)
n.10062C>A
c.4249C>A (n.4249C>A)
n.9954C>A
c.851-2806G>T (n.851-2806G>T)
n.2984C>A
n.7007C>A
c.2835C>A (p.Tyr945Ter)
c.26517C>A (p.Tyr8839Ter)
c.26505C>A (p.Tyr8835Ter)
c.26496C>A (p.Tyr8832Ter)
c.26475C>A (p.Tyr8825Ter)
c.26466C>A (p.Tyr8822Ter)
c.26460C>A (p.Tyr8820Ter)
c.26448C>A (p.Tyr8816Ter)
c.26445C>A (p.Tyr8815Ter)
c.26406C>A (p.Tyr8802Ter)
c.26391C>A (p.Tyr8797Ter)
c.26376C>A (p.Tyr8792Ter)
c.26364C>A (p.Tyr8788Ter)
c.26361C>A (p.Tyr8787Ter)
c.26358C>A (p.Tyr8786Ter)
c.*181C>A (n.*181C>A)
c.26514C>A (p.Tyr8838Ter)
c.26502C>A (p.Tyr8834Ter)
c.26352C>A (p.Tyr8784Ter)
c.24792C>A (p.Tyr8264Ter)
c.24285C>A (p.Tyr8095Ter)
c.19752C>A (p.Tyr6584Ter)
c.26490C>A (p.Tyr8830Ter)
c.26439C>A (p.Tyr8813Ter)
c.26403C>A (p.Tyr8801Ter)
c.26250C>A (p.Tyr8750Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152122461T>ACA366088454ESR1,SYNE1c.2903A>T (p.Tyr968Phe)
c.26369A>T (p.Tyr8790Phe)
c.26225A>T (p.Tyr8742Phe)
c.1712A>T
c.2087A>T
c.1954A>T
c.2219A>T (n.2219A>T)
c.25154A>T (p.Tyr8385Phe)
n.3117A>T
c.5145A>T (n.5145A>T)
n.10061A>T
c.4248A>T (n.4248A>T)
n.9953A>T
c.851-2805T>A (n.851-2805T>A)
n.2983A>T
n.7006A>T
c.2834A>T (p.Tyr945Phe)
c.26516A>T (p.Tyr8839Phe)
c.26504A>T (p.Tyr8835Phe)
c.26495A>T (p.Tyr8832Phe)
c.26474A>T (p.Tyr8825Phe)
c.26465A>T (p.Tyr8822Phe)
c.26459A>T (p.Tyr8820Phe)
c.26447A>T (p.Tyr8816Phe)
c.26444A>T (p.Tyr8815Phe)
c.26405A>T (p.Tyr8802Phe)
c.26390A>T (p.Tyr8797Phe)
c.26375A>T (p.Tyr8792Phe)
c.26363A>T (p.Tyr8788Phe)
c.26360A>T (p.Tyr8787Phe)
c.26357A>T (p.Tyr8786Phe)
c.*180A>T (n.*180A>T)
c.26513A>T (p.Tyr8838Phe)
c.26501A>T (p.Tyr8834Phe)
c.26351A>T (p.Tyr8784Phe)
c.24791A>T (p.Tyr8264Phe)
c.24284A>T (p.Tyr8095Phe)
c.19751A>T (p.Tyr6584Phe)
c.26489A>T (p.Tyr8830Phe)
c.26438A>T (p.Tyr8813Phe)
c.26402A>T (p.Tyr8801Phe)
c.26249A>T (p.Tyr8750Phe)
6g.152122461T>CCA366088456ESR1,SYNE1c.2903A>G (p.Tyr968Cys)
c.26369A>G (p.Tyr8790Cys)
c.26225A>G (p.Tyr8742Cys)
c.1712A>G
c.2087A>G
c.1954A>G
c.2219A>G (n.2219A>G)
c.25154A>G (p.Tyr8385Cys)
n.3117A>G
c.5145A>G (n.5145A>G)
n.10061A>G
c.4248A>G (n.4248A>G)
n.9953A>G
c.851-2805T>C (n.851-2805T>C)
n.2983A>G
n.7006A>G
c.2834A>G (p.Tyr945Cys)
c.26516A>G (p.Tyr8839Cys)
c.26504A>G (p.Tyr8835Cys)
c.26495A>G (p.Tyr8832Cys)
c.26474A>G (p.Tyr8825Cys)
c.26465A>G (p.Tyr8822Cys)
c.26459A>G (p.Tyr8820Cys)
c.26447A>G (p.Tyr8816Cys)
c.26444A>G (p.Tyr8815Cys)
c.26405A>G (p.Tyr8802Cys)
c.26390A>G (p.Tyr8797Cys)
c.26375A>G (p.Tyr8792Cys)
c.26363A>G (p.Tyr8788Cys)
c.26360A>G (p.Tyr8787Cys)
c.26357A>G (p.Tyr8786Cys)
c.*180A>G (n.*180A>G)
c.26513A>G (p.Tyr8838Cys)
c.26501A>G (p.Tyr8834Cys)
c.26351A>G (p.Tyr8784Cys)
c.24791A>G (p.Tyr8264Cys)
c.24284A>G (p.Tyr8095Cys)
c.19751A>G (p.Tyr6584Cys)
c.26489A>G (p.Tyr8830Cys)
c.26438A>G (p.Tyr8813Cys)
c.26402A>G (p.Tyr8801Cys)
c.26249A>G (p.Tyr8750Cys)
6g.152122461T>GCA366088458ESR1,SYNE1c.2903A>C (p.Tyr968Ser)
c.26369A>C (p.Tyr8790Ser)
c.26225A>C (p.Tyr8742Ser)
c.1712A>C
c.2087A>C
c.1954A>C
c.2219A>C (n.2219A>C)
c.25154A>C (p.Tyr8385Ser)
n.3117A>C
c.5145A>C (n.5145A>C)
n.10061A>C
c.4248A>C (n.4248A>C)
n.9953A>C
c.851-2805T>G (n.851-2805T>G)
n.2983A>C
n.7006A>C
c.2834A>C (p.Tyr945Ser)
c.26516A>C (p.Tyr8839Ser)
c.26504A>C (p.Tyr8835Ser)
c.26495A>C (p.Tyr8832Ser)
c.26474A>C (p.Tyr8825Ser)
c.26465A>C (p.Tyr8822Ser)
c.26459A>C (p.Tyr8820Ser)
c.26447A>C (p.Tyr8816Ser)
c.26444A>C (p.Tyr8815Ser)
c.26405A>C (p.Tyr8802Ser)
c.26390A>C (p.Tyr8797Ser)
c.26375A>C (p.Tyr8792Ser)
c.26363A>C (p.Tyr8788Ser)
c.26360A>C (p.Tyr8787Ser)
c.26357A>C (p.Tyr8786Ser)
c.*180A>C (n.*180A>C)
c.26513A>C (p.Tyr8838Ser)
c.26501A>C (p.Tyr8834Ser)
c.26351A>C (p.Tyr8784Ser)
c.24791A>C (p.Tyr8264Ser)
c.24284A>C (p.Tyr8095Ser)
c.19751A>C (p.Tyr6584Ser)
c.26489A>C (p.Tyr8830Ser)
c.26438A>C (p.Tyr8813Ser)
c.26402A>C (p.Tyr8801Ser)
c.26249A>C (p.Tyr8750Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.152122461T=CA1673188767ESR1,SYNE1c.2903A= (p.Tyr968=)
c.26369A= (p.Tyr8790=)
c.26225A= (p.Tyr8742=)
c.1712A=
c.2087A=
c.1954A=
c.2219A= (n.2219A=)
c.25154A= (p.Tyr8385=)
n.3117A=
c.5145A= (n.5145A=)
n.10061A=
c.4248A= (n.4248A=)
n.9953A=
c.851-2805T= (n.851-2805T=)
n.2983A=
n.7006A=
c.2834A= (p.Tyr945=)
c.26516A= (p.Tyr8839=)
c.26504A= (p.Tyr8835=)
c.26495A= (p.Tyr8832=)
c.26474A= (p.Tyr8825=)
c.26465A= (p.Tyr8822=)
c.26459A= (p.Tyr8820=)
c.26447A= (p.Tyr8816=)
c.26444A= (p.Tyr8815=)
c.26405A= (p.Tyr8802=)
c.26390A= (p.Tyr8797=)
c.26375A= (p.Tyr8792=)
c.26363A= (p.Tyr8788=)
c.26360A= (p.Tyr8787=)
c.26357A= (p.Tyr8786=)
c.*180A= (n.*180A=)
c.26513A= (p.Tyr8838=)
c.26501A= (p.Tyr8834=)
c.26351A= (p.Tyr8784=)
c.24791A= (p.Tyr8264=)
c.24284A= (p.Tyr8095=)
c.19751A= (p.Tyr6584=)
c.26489A= (p.Tyr8830=)
c.26438A= (p.Tyr8813=)
c.26402A= (p.Tyr8801=)
c.26249A= (p.Tyr8750=)
6g.152122462A=CA1673188770ESR1,SYNE1c.2902T= (p.Tyr968=)
c.26368T= (p.Tyr8790=)
c.26224T= (p.Tyr8742=)
c.1711T=
c.2086T=
c.1953T=
c.2218T= (n.2218T=)
c.25153T= (p.Tyr8385=)
n.3116T=
c.5144T= (n.5144T=)
n.10060T=
c.4247T= (n.4247T=)
n.9952T=
c.851-2804A= (n.851-2804A=)
n.2982T=
n.7005T=
c.2833T= (p.Tyr945=)
c.26515T= (p.Tyr8839=)
c.26503T= (p.Tyr8835=)
c.26494T= (p.Tyr8832=)
c.26473T= (p.Tyr8825=)
c.26464T= (p.Tyr8822=)
c.26458T= (p.Tyr8820=)
c.26446T= (p.Tyr8816=)
c.26443T= (p.Tyr8815=)
c.26404T= (p.Tyr8802=)
c.26389T= (p.Tyr8797=)
c.26374T= (p.Tyr8792=)
c.26362T= (p.Tyr8788=)
c.26359T= (p.Tyr8787=)
c.26356T= (p.Tyr8786=)
c.*179T= (n.*179T=)
c.26512T= (p.Tyr8838=)
c.26500T= (p.Tyr8834=)
c.26350T= (p.Tyr8784=)
c.24790T= (p.Tyr8264=)
c.24283T= (p.Tyr8095=)
c.19750T= (p.Tyr6584=)
c.26488T= (p.Tyr8830=)
c.26437T= (p.Tyr8813=)
c.26401T= (p.Tyr8801=)
c.26248T= (p.Tyr8750=)
6g.152122462A>CCA366088460ESR1,SYNE1c.2902T>G (p.Tyr968Asp)
c.26368T>G (p.Tyr8790Asp)
c.26224T>G (p.Tyr8742Asp)
c.1711T>G
c.2086T>G
c.1953T>G
c.2218T>G (n.2218T>G)
c.25153T>G (p.Tyr8385Asp)
n.3116T>G
c.5144T>G (n.5144T>G)
n.10060T>G
c.4247T>G (n.4247T>G)
n.9952T>G
c.851-2804A>C (n.851-2804A>C)
n.2982T>G
n.7005T>G
c.2833T>G (p.Tyr945Asp)
c.26515T>G (p.Tyr8839Asp)
c.26503T>G (p.Tyr8835Asp)
c.26494T>G (p.Tyr8832Asp)
c.26473T>G (p.Tyr8825Asp)
c.26464T>G (p.Tyr8822Asp)
c.26458T>G (p.Tyr8820Asp)
c.26446T>G (p.Tyr8816Asp)
c.26443T>G (p.Tyr8815Asp)
c.26404T>G (p.Tyr8802Asp)
c.26389T>G (p.Tyr8797Asp)
c.26374T>G (p.Tyr8792Asp)
c.26362T>G (p.Tyr8788Asp)
c.26359T>G (p.Tyr8787Asp)
c.26356T>G (p.Tyr8786Asp)
c.*179T>G (n.*179T>G)
c.26512T>G (p.Tyr8838Asp)
c.26500T>G (p.Tyr8834Asp)
c.26350T>G (p.Tyr8784Asp)
c.24790T>G (p.Tyr8264Asp)
c.24283T>G (p.Tyr8095Asp)
c.19750T>G (p.Tyr6584Asp)
c.26488T>G (p.Tyr8830Asp)
c.26437T>G (p.Tyr8813Asp)
c.26401T>G (p.Tyr8801Asp)
c.26248T>G (p.Tyr8750Asp)
6g.152122462A>GCA366088462ESR1,SYNE1c.2902T>C (p.Tyr968His)
c.26368T>C (p.Tyr8790His)
c.26224T>C (p.Tyr8742His)
c.1711T>C
c.2086T>C
c.1953T>C
c.2218T>C (n.2218T>C)
c.25153T>C (p.Tyr8385His)
n.3116T>C
c.5144T>C (n.5144T>C)
n.10060T>C
c.4247T>C (n.4247T>C)
n.9952T>C
c.851-2804A>G (n.851-2804A>G)
n.2982T>C
n.7005T>C
c.2833T>C (p.Tyr945His)
c.26515T>C (p.Tyr8839His)
c.26503T>C (p.Tyr8835His)
c.26494T>C (p.Tyr8832His)
c.26473T>C (p.Tyr8825His)
c.26464T>C (p.Tyr8822His)
c.26458T>C (p.Tyr8820His)
c.26446T>C (p.Tyr8816His)
c.26443T>C (p.Tyr8815His)
c.26404T>C (p.Tyr8802His)
c.26389T>C (p.Tyr8797His)
c.26374T>C (p.Tyr8792His)
c.26362T>C (p.Tyr8788His)
c.26359T>C (p.Tyr8787His)
c.26356T>C (p.Tyr8786His)
c.*179T>C (n.*179T>C)
c.26512T>C (p.Tyr8838His)
c.26500T>C (p.Tyr8834His)
c.26350T>C (p.Tyr8784His)
c.24790T>C (p.Tyr8264His)
c.24283T>C (p.Tyr8095His)
c.19750T>C (p.Tyr6584His)
c.26488T>C (p.Tyr8830His)
c.26437T>C (p.Tyr8813His)
c.26401T>C (p.Tyr8801His)
c.26248T>C (p.Tyr8750His)
 dbSNP gnomAD v2 gnomAD v4
6g.152122462A>TCA366088464ESR1,SYNE1c.2902T>A (p.Tyr968Asn)
c.26368T>A (p.Tyr8790Asn)
c.26224T>A (p.Tyr8742Asn)
c.1711T>A
c.2086T>A
c.1953T>A
c.2218T>A (n.2218T>A)
c.25153T>A (p.Tyr8385Asn)
n.3116T>A
c.5144T>A (n.5144T>A)
n.10060T>A
c.4247T>A (n.4247T>A)
n.9952T>A
c.851-2804A>T (n.851-2804A>T)
n.2982T>A
n.7005T>A
c.2833T>A (p.Tyr945Asn)
c.26515T>A (p.Tyr8839Asn)
c.26503T>A (p.Tyr8835Asn)
c.26494T>A (p.Tyr8832Asn)
c.26473T>A (p.Tyr8825Asn)
c.26464T>A (p.Tyr8822Asn)
c.26458T>A (p.Tyr8820Asn)
c.26446T>A (p.Tyr8816Asn)
c.26443T>A (p.Tyr8815Asn)
c.26404T>A (p.Tyr8802Asn)
c.26389T>A (p.Tyr8797Asn)
c.26374T>A (p.Tyr8792Asn)
c.26362T>A (p.Tyr8788Asn)
c.26359T>A (p.Tyr8787Asn)
c.26356T>A (p.Tyr8786Asn)
c.*179T>A (n.*179T>A)
c.26512T>A (p.Tyr8838Asn)
c.26500T>A (p.Tyr8834Asn)
c.26350T>A (p.Tyr8784Asn)
c.24790T>A (p.Tyr8264Asn)
c.24283T>A (p.Tyr8095Asn)
c.19750T>A (p.Tyr6584Asn)
c.26488T>A (p.Tyr8830Asn)
c.26437T>A (p.Tyr8813Asn)
c.26401T>A (p.Tyr8801Asn)
c.26248T>A (p.Tyr8750Asn)
6g.152122463T>ACA366088467ESR1,SYNE1c.2901A>T (p.Arg967Ser)
c.26367A>T (p.Arg8789Ser)
c.26223A>T (p.Arg8741Ser)
c.1710A>T
c.2085A>T
c.1952A>T
c.2217A>T (n.2217A>T)
c.25152A>T (p.Arg8384Ser)
n.3115A>T
c.5143A>T (n.5143A>T)
n.10059A>T
c.4246A>T (n.4246A>T)
n.9951A>T
c.851-2803T>A (n.851-2803T>A)
n.2981A>T
n.7004A>T
c.2832A>T (p.Arg944Ser)
c.26514A>T (p.Arg8838Ser)
c.26502A>T (p.Arg8834Ser)
c.26493A>T (p.Arg8831Ser)
c.26472A>T (p.Arg8824Ser)
c.26463A>T (p.Arg8821Ser)
c.26457A>T (p.Arg8819Ser)
c.26445A>T (p.Arg8815Ser)
c.26442A>T (p.Arg8814Ser)
c.26403A>T (p.Arg8801Ser)
c.26388A>T (p.Arg8796Ser)
c.26373A>T (p.Arg8791Ser)
c.26361A>T (p.Arg8787Ser)
c.26358A>T (p.Arg8786Ser)
c.26355A>T (p.Arg8785Ser)
c.*178A>T (n.*178A>T)
c.26511A>T (p.Arg8837Ser)
c.26499A>T (p.Arg8833Ser)
c.26349A>T (p.Arg8783Ser)
c.24789A>T (p.Arg8263Ser)
c.24282A>T (p.Arg8094Ser)
c.19749A>T (p.Arg6583Ser)
c.26487A>T (p.Arg8829Ser)
c.26436A>T (p.Arg8812Ser)
c.26400A>T (p.Arg8800Ser)
c.26247A>T (p.Arg8749Ser)
6g.152122463T>CCA452969492ESR1,SYNE1c.2901A>G (p.Arg967=)
c.26367A>G (p.Arg8789=)
c.26223A>G (p.Arg8741=)
c.1710A>G
c.2085A>G
c.1952A>G
c.2217A>G (n.2217A>G)
c.25152A>G (p.Arg8384=)
n.3115A>G
c.5143A>G (n.5143A>G)
n.10059A>G
c.4246A>G (n.4246A>G)
n.9951A>G
c.851-2803T>C (n.851-2803T>C)
n.2981A>G
n.7004A>G
c.2832A>G (p.Arg944=)
c.26514A>G (p.Arg8838=)
c.26502A>G (p.Arg8834=)
c.26493A>G (p.Arg8831=)
c.26472A>G (p.Arg8824=)
c.26463A>G (p.Arg8821=)
c.26457A>G (p.Arg8819=)
c.26445A>G (p.Arg8815=)
c.26442A>G (p.Arg8814=)
c.26403A>G (p.Arg8801=)
c.26388A>G (p.Arg8796=)
c.26373A>G (p.Arg8791=)
c.26361A>G (p.Arg8787=)
c.26358A>G (p.Arg8786=)
c.26355A>G (p.Arg8785=)
c.*178A>G (n.*178A>G)
c.26511A>G (p.Arg8837=)
c.26499A>G (p.Arg8833=)
c.26349A>G (p.Arg8783=)
c.24789A>G (p.Arg8263=)
c.24282A>G (p.Arg8094=)
c.19749A>G (p.Arg6583=)
c.26487A>G (p.Arg8829=)
c.26436A>G (p.Arg8812=)
c.26400A>G (p.Arg8800=)
c.26247A>G (p.Arg8749=)
6g.152122463T>GCA366088469ESR1,SYNE1c.2901A>C (p.Arg967Ser)
c.26367A>C (p.Arg8789Ser)
c.26223A>C (p.Arg8741Ser)
c.1710A>C
c.2085A>C
c.1952A>C
c.2217A>C (n.2217A>C)
c.25152A>C (p.Arg8384Ser)
n.3115A>C
c.5143A>C (n.5143A>C)
n.10059A>C
c.4246A>C (n.4246A>C)
n.9951A>C
c.851-2803T>G (n.851-2803T>G)
n.2981A>C
n.7004A>C
c.2832A>C (p.Arg944Ser)
c.26514A>C (p.Arg8838Ser)
c.26502A>C (p.Arg8834Ser)
c.26493A>C (p.Arg8831Ser)
c.26472A>C (p.Arg8824Ser)
c.26463A>C (p.Arg8821Ser)
c.26457A>C (p.Arg8819Ser)
c.26445A>C (p.Arg8815Ser)
c.26442A>C (p.Arg8814Ser)
c.26403A>C (p.Arg8801Ser)
c.26388A>C (p.Arg8796Ser)
c.26373A>C (p.Arg8791Ser)
c.26361A>C (p.Arg8787Ser)
c.26358A>C (p.Arg8786Ser)
c.26355A>C (p.Arg8785Ser)
c.*178A>C (n.*178A>C)
c.26511A>C (p.Arg8837Ser)
c.26499A>C (p.Arg8833Ser)
c.26349A>C (p.Arg8783Ser)
c.24789A>C (p.Arg8263Ser)
c.24282A>C (p.Arg8094Ser)
c.19749A>C (p.Arg6583Ser)
c.26487A>C (p.Arg8829Ser)
c.26436A>C (p.Arg8812Ser)
c.26400A>C (p.Arg8800Ser)
c.26247A>C (p.Arg8749Ser)
6g.152122464C>ACA366088471ESR1,SYNE1c.2900G>T (p.Arg967Ile)
c.26366G>T (p.Arg8789Ile)
c.26222G>T (p.Arg8741Ile)
c.1709G>T
c.2084G>T
c.1951G>T
c.2216G>T (n.2216G>T)
c.25151G>T (p.Arg8384Ile)
n.3114G>T
c.5142G>T (n.5142G>T)
n.10058G>T
c.4245G>T (n.4245G>T)
n.9950G>T
c.851-2802C>A (n.851-2802C>A)
n.2980G>T
n.7003G>T
c.2831G>T (p.Arg944Ile)
c.26513G>T (p.Arg8838Ile)
c.26501G>T (p.Arg8834Ile)
c.26492G>T (p.Arg8831Ile)
c.26471G>T (p.Arg8824Ile)
c.26462G>T (p.Arg8821Ile)
c.26456G>T (p.Arg8819Ile)
c.26444G>T (p.Arg8815Ile)
c.26441G>T (p.Arg8814Ile)
c.26402G>T (p.Arg8801Ile)
c.26387G>T (p.Arg8796Ile)
c.26372G>T (p.Arg8791Ile)
c.26360G>T (p.Arg8787Ile)
c.26357G>T (p.Arg8786Ile)
c.26354G>T (p.Arg8785Ile)
c.*177G>T (n.*177G>T)
c.26510G>T (p.Arg8837Ile)
c.26498G>T (p.Arg8833Ile)
c.26348G>T (p.Arg8783Ile)
c.24788G>T (p.Arg8263Ile)
c.24281G>T (p.Arg8094Ile)
c.19748G>T (p.Arg6583Ile)
c.26486G>T (p.Arg8829Ile)
c.26435G>T (p.Arg8812Ile)
c.26399G>T (p.Arg8800Ile)
c.26246G>T (p.Arg8749Ile)
6g.152122464C=CA1673188774ESR1,SYNE1c.2900G= (p.Arg967=)
c.26366G= (p.Arg8789=)
c.26222G= (p.Arg8741=)
c.1709G=
c.2084G=
c.1951G=
c.2216G= (n.2216G=)
c.25151G= (p.Arg8384=)
n.3114G=
c.5142G= (n.5142G=)
n.10058G=
c.4245G= (n.4245G=)
n.9950G=
c.851-2802C= (n.851-2802C=)
n.2980G=
n.7003G=
c.2831G= (p.Arg944=)
c.26513G= (p.Arg8838=)
c.26501G= (p.Arg8834=)
c.26492G= (p.Arg8831=)
c.26471G= (p.Arg8824=)
c.26462G= (p.Arg8821=)
c.26456G= (p.Arg8819=)
c.26444G= (p.Arg8815=)
c.26441G= (p.Arg8814=)
c.26402G= (p.Arg8801=)
c.26387G= (p.Arg8796=)
c.26372G= (p.Arg8791=)
c.26360G= (p.Arg8787=)
c.26357G= (p.Arg8786=)
c.26354G= (p.Arg8785=)
c.*177G= (n.*177G=)
c.26510G= (p.Arg8837=)
c.26498G= (p.Arg8833=)
c.26348G= (p.Arg8783=)
c.24788G= (p.Arg8263=)
c.24281G= (p.Arg8094=)
c.19748G= (p.Arg6583=)
c.26486G= (p.Arg8829=)
c.26435G= (p.Arg8812=)
c.26399G= (p.Arg8800=)
c.26246G= (p.Arg8749=)
6g.152122464C>GCA366088473ESR1,SYNE1c.2900G>C (p.Arg967Thr)
c.26366G>C (p.Arg8789Thr)
c.26222G>C (p.Arg8741Thr)
c.1709G>C
c.2084G>C
c.1951G>C
c.2216G>C (n.2216G>C)
c.25151G>C (p.Arg8384Thr)
n.3114G>C
c.5142G>C (n.5142G>C)
n.10058G>C
c.4245G>C (n.4245G>C)
n.9950G>C
c.851-2802C>G (n.851-2802C>G)
n.2980G>C
n.7003G>C
c.2831G>C (p.Arg944Thr)
c.26513G>C (p.Arg8838Thr)
c.26501G>C (p.Arg8834Thr)
c.26492G>C (p.Arg8831Thr)
c.26471G>C (p.Arg8824Thr)
c.26462G>C (p.Arg8821Thr)
c.26456G>C (p.Arg8819Thr)
c.26444G>C (p.Arg8815Thr)
c.26441G>C (p.Arg8814Thr)
c.26402G>C (p.Arg8801Thr)
c.26387G>C (p.Arg8796Thr)
c.26372G>C (p.Arg8791Thr)
c.26360G>C (p.Arg8787Thr)
c.26357G>C (p.Arg8786Thr)
c.26354G>C (p.Arg8785Thr)
c.*177G>C (n.*177G>C)
c.26510G>C (p.Arg8837Thr)
c.26498G>C (p.Arg8833Thr)
c.26348G>C (p.Arg8783Thr)
c.24788G>C (p.Arg8263Thr)
c.24281G>C (p.Arg8094Thr)
c.19748G>C (p.Arg6583Thr)
c.26486G>C (p.Arg8829Thr)
c.26435G>C (p.Arg8812Thr)
c.26399G>C (p.Arg8800Thr)
c.26246G>C (p.Arg8749Thr)
6g.152122464C>TCA366088474ESR1,SYNE1c.2900G>A (p.Arg967Lys)
c.26366G>A (p.Arg8789Lys)
c.26222G>A (p.Arg8741Lys)
c.1709G>A
c.2084G>A
c.1951G>A
c.2216G>A (n.2216G>A)
c.25151G>A (p.Arg8384Lys)
n.3114G>A
c.5142G>A (n.5142G>A)
n.10058G>A
c.4245G>A (n.4245G>A)
n.9950G>A
c.851-2802C>T (n.851-2802C>T)
n.2980G>A
n.7003G>A
c.2831G>A (p.Arg944Lys)
c.26513G>A (p.Arg8838Lys)
c.26501G>A (p.Arg8834Lys)
c.26492G>A (p.Arg8831Lys)
c.26471G>A (p.Arg8824Lys)
c.26462G>A (p.Arg8821Lys)
c.26456G>A (p.Arg8819Lys)
c.26444G>A (p.Arg8815Lys)
c.26441G>A (p.Arg8814Lys)
c.26402G>A (p.Arg8801Lys)
c.26387G>A (p.Arg8796Lys)
c.26372G>A (p.Arg8791Lys)
c.26360G>A (p.Arg8787Lys)
c.26357G>A (p.Arg8786Lys)
c.26354G>A (p.Arg8785Lys)
c.*177G>A (n.*177G>A)
c.26510G>A (p.Arg8837Lys)
c.26498G>A (p.Arg8833Lys)
c.26348G>A (p.Arg8783Lys)
c.24788G>A (p.Arg8263Lys)
c.24281G>A (p.Arg8094Lys)
c.19748G>A (p.Arg6583Lys)
c.26486G>A (p.Arg8829Lys)
c.26435G>A (p.Arg8812Lys)
c.26399G>A (p.Arg8800Lys)
c.26246G>A (p.Arg8749Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.152122465T>ACA366088476ESR1,SYNE1c.2899A>T (p.Arg967Ter)
c.26365A>T (p.Arg8789Ter)
c.26221A>T (p.Arg8741Ter)
c.1708A>T
c.2083A>T
c.1950A>T
c.2215A>T (n.2215A>T)
c.25150A>T (p.Arg8384Ter)
n.3113A>T
c.5141A>T (n.5141A>T)
n.10057A>T
c.4244A>T (n.4244A>T)
n.9949A>T
c.851-2801T>A (n.851-2801T>A)
n.2979A>T
n.7002A>T
c.2830A>T (p.Arg944Ter)
c.26512A>T (p.Arg8838Ter)
c.26500A>T (p.Arg8834Ter)
c.26491A>T (p.Arg8831Ter)
c.26470A>T (p.Arg8824Ter)
c.26461A>T (p.Arg8821Ter)
c.26455A>T (p.Arg8819Ter)
c.26443A>T (p.Arg8815Ter)
c.26440A>T (p.Arg8814Ter)
c.26401A>T (p.Arg8801Ter)
c.26386A>T (p.Arg8796Ter)
c.26371A>T (p.Arg8791Ter)
c.26359A>T (p.Arg8787Ter)
c.26356A>T (p.Arg8786Ter)
c.26353A>T (p.Arg8785Ter)
c.*176A>T (n.*176A>T)
c.26509A>T (p.Arg8837Ter)
c.26497A>T (p.Arg8833Ter)
c.26347A>T (p.Arg8783Ter)
c.24787A>T (p.Arg8263Ter)
c.24280A>T (p.Arg8094Ter)
c.19747A>T (p.Arg6583Ter)
c.26485A>T (p.Arg8829Ter)
c.26434A>T (p.Arg8812Ter)
c.26398A>T (p.Arg8800Ter)
c.26245A>T (p.Arg8749Ter)
6g.152122465T>CCA366088478ESR1,SYNE1c.2899A>G (p.Arg967Gly)
c.26365A>G (p.Arg8789Gly)
c.26221A>G (p.Arg8741Gly)
c.1708A>G
c.2083A>G
c.1950A>G
c.2215A>G (n.2215A>G)
c.25150A>G (p.Arg8384Gly)
n.3113A>G
c.5141A>G (n.5141A>G)
n.10057A>G
c.4244A>G (n.4244A>G)
n.9949A>G
c.851-2801T>C (n.851-2801T>C)
n.2979A>G
n.7002A>G
c.2830A>G (p.Arg944Gly)
c.26512A>G (p.Arg8838Gly)
c.26500A>G (p.Arg8834Gly)
c.26491A>G (p.Arg8831Gly)
c.26470A>G (p.Arg8824Gly)
c.26461A>G (p.Arg8821Gly)
c.26455A>G (p.Arg8819Gly)
c.26443A>G (p.Arg8815Gly)
c.26440A>G (p.Arg8814Gly)
c.26401A>G (p.Arg8801Gly)
c.26386A>G (p.Arg8796Gly)
c.26371A>G (p.Arg8791Gly)
c.26359A>G (p.Arg8787Gly)
c.26356A>G (p.Arg8786Gly)
c.26353A>G (p.Arg8785Gly)
c.*176A>G (n.*176A>G)
c.26509A>G (p.Arg8837Gly)
c.26497A>G (p.Arg8833Gly)
c.26347A>G (p.Arg8783Gly)
c.24787A>G (p.Arg8263Gly)
c.24280A>G (p.Arg8094Gly)
c.19747A>G (p.Arg6583Gly)
c.26485A>G (p.Arg8829Gly)
c.26434A>G (p.Arg8812Gly)
c.26398A>G (p.Arg8800Gly)
c.26245A>G (p.Arg8749Gly)
6g.152122465T>GCA452969500ESR1,SYNE1c.2899A>C (p.Arg967=)
c.26365A>C (p.Arg8789=)
c.26221A>C (p.Arg8741=)
c.1708A>C
c.2083A>C
c.1950A>C
c.2215A>C (n.2215A>C)
c.25150A>C (p.Arg8384=)
n.3113A>C
c.5141A>C (n.5141A>C)
n.10057A>C
c.4244A>C (n.4244A>C)
n.9949A>C
c.851-2801T>G (n.851-2801T>G)
n.2979A>C
n.7002A>C
c.2830A>C (p.Arg944=)
c.26512A>C (p.Arg8838=)
c.26500A>C (p.Arg8834=)
c.26491A>C (p.Arg8831=)
c.26470A>C (p.Arg8824=)
c.26461A>C (p.Arg8821=)
c.26455A>C (p.Arg8819=)
c.26443A>C (p.Arg8815=)
c.26440A>C (p.Arg8814=)
c.26401A>C (p.Arg8801=)
c.26386A>C (p.Arg8796=)
c.26371A>C (p.Arg8791=)
c.26359A>C (p.Arg8787=)
c.26356A>C (p.Arg8786=)
c.26353A>C (p.Arg8785=)
c.*176A>C (n.*176A>C)
c.26509A>C (p.Arg8837=)
c.26497A>C (p.Arg8833=)
c.26347A>C (p.Arg8783=)
c.24787A>C (p.Arg8263=)
c.24280A>C (p.Arg8094=)
c.19747A>C (p.Arg6583=)
c.26485A>C (p.Arg8829=)
c.26434A>C (p.Arg8812=)
c.26398A>C (p.Arg8800=)
c.26245A>C (p.Arg8749=)
6g.152122466G>ACA452969502ESR1,SYNE1c.2898C>T (p.Leu966=)
c.26364C>T (p.Leu8788=)
c.26220C>T (p.Leu8740=)
c.1707C>T
c.2082C>T
c.1949C>T
c.2214C>T (n.2214C>T)
c.25149C>T (p.Leu8383=)
n.3112C>T
c.5140C>T (n.5140C>T)
n.10056C>T
c.4243C>T (n.4243C>T)
n.9948C>T
c.851-2800G>A (n.851-2800G>A)
n.2978C>T
n.7001C>T
c.2829C>T (p.Leu943=)
c.26511C>T (p.Leu8837=)
c.26499C>T (p.Leu8833=)
c.26490C>T (p.Leu8830=)
c.26469C>T (p.Leu8823=)
c.26460C>T (p.Leu8820=)
c.26454C>T (p.Leu8818=)
c.26442C>T (p.Leu8814=)
c.26439C>T (p.Leu8813=)
c.26400C>T (p.Leu8800=)
c.26385C>T (p.Leu8795=)
c.26370C>T (p.Leu8790=)
c.26358C>T (p.Leu8786=)
c.26355C>T (p.Leu8785=)
c.26352C>T (p.Leu8784=)
c.*175C>T (n.*175C>T)
c.26508C>T (p.Leu8836=)
c.26496C>T (p.Leu8832=)
c.26346C>T (p.Leu8782=)
c.24786C>T (p.Leu8262=)
c.24279C>T (p.Leu8093=)
c.19746C>T (p.Leu6582=)
c.26484C>T (p.Leu8828=)
c.26433C>T (p.Leu8811=)
c.26397C>T (p.Leu8799=)
c.26244C>T (p.Leu8748=)
 gnomAD v4
6g.152122466G>CCA452969503ESR1,SYNE1c.2898C>G (p.Leu966=)
c.26364C>G (p.Leu8788=)
c.26220C>G (p.Leu8740=)
c.1707C>G
c.2082C>G
c.1949C>G
c.2214C>G (n.2214C>G)
c.25149C>G (p.Leu8383=)
n.3112C>G
c.5140C>G (n.5140C>G)
n.10056C>G
c.4243C>G (n.4243C>G)
n.9948C>G
c.851-2800G>C (n.851-2800G>C)
n.2978C>G
n.7001C>G
c.2829C>G (p.Leu943=)
c.26511C>G (p.Leu8837=)
c.26499C>G (p.Leu8833=)
c.26490C>G (p.Leu8830=)
c.26469C>G (p.Leu8823=)
c.26460C>G (p.Leu8820=)
c.26454C>G (p.Leu8818=)
c.26442C>G (p.Leu8814=)
c.26439C>G (p.Leu8813=)
c.26400C>G (p.Leu8800=)
c.26385C>G (p.Leu8795=)
c.26370C>G (p.Leu8790=)
c.26358C>G (p.Leu8786=)
c.26355C>G (p.Leu8785=)
c.26352C>G (p.Leu8784=)
c.*175C>G (n.*175C>G)
c.26508C>G (p.Leu8836=)
c.26496C>G (p.Leu8832=)
c.26346C>G (p.Leu8782=)
c.24786C>G (p.Leu8262=)
c.24279C>G (p.Leu8093=)
c.19746C>G (p.Leu6582=)
c.26484C>G (p.Leu8828=)
c.26433C>G (p.Leu8811=)
c.26397C>G (p.Leu8799=)
c.26244C>G (p.Leu8748=)
6g.152122466G>TCA452969504ESR1,SYNE1c.2898C>A (p.Leu966=)
c.26364C>A (p.Leu8788=)
c.26220C>A (p.Leu8740=)
c.1707C>A
c.2082C>A
c.1949C>A
c.2214C>A (n.2214C>A)
c.25149C>A (p.Leu8383=)
n.3112C>A
c.5140C>A (n.5140C>A)
n.10056C>A
c.4243C>A (n.4243C>A)
n.9948C>A
c.851-2800G>T (n.851-2800G>T)
n.2978C>A
n.7001C>A
c.2829C>A (p.Leu943=)
c.26511C>A (p.Leu8837=)
c.26499C>A (p.Leu8833=)
c.26490C>A (p.Leu8830=)
c.26469C>A (p.Leu8823=)
c.26460C>A (p.Leu8820=)
c.26454C>A (p.Leu8818=)
c.26442C>A (p.Leu8814=)
c.26439C>A (p.Leu8813=)
c.26400C>A (p.Leu8800=)
c.26385C>A (p.Leu8795=)
c.26370C>A (p.Leu8790=)
c.26358C>A (p.Leu8786=)
c.26355C>A (p.Leu8785=)
c.26352C>A (p.Leu8784=)
c.*175C>A (n.*175C>A)
c.26508C>A (p.Leu8836=)
c.26496C>A (p.Leu8832=)
c.26346C>A (p.Leu8782=)
c.24786C>A (p.Leu8262=)
c.24279C>A (p.Leu8093=)
c.19746C>A (p.Leu6582=)
c.26484C>A (p.Leu8828=)
c.26433C>A (p.Leu8811=)
c.26397C>A (p.Leu8799=)
c.26244C>A (p.Leu8748=)
6g.152122467A>CCA366088484ESR1,SYNE1c.2897T>G (p.Leu966Arg)
c.26363T>G (p.Leu8788Arg)
c.26219T>G (p.Leu8740Arg)
c.1706T>G
c.2081T>G
c.1948T>G
c.2213T>G (n.2213T>G)
c.25148T>G (p.Leu8383Arg)
n.3111T>G
c.5139T>G (n.5139T>G)
n.10055T>G
c.4242T>G (n.4242T>G)
n.9947T>G
c.851-2799A>C (n.851-2799A>C)
n.2977T>G
n.7000T>G
c.2828T>G (p.Leu943Arg)
c.26510T>G (p.Leu8837Arg)
c.26498T>G (p.Leu8833Arg)
c.26489T>G (p.Leu8830Arg)
c.26468T>G (p.Leu8823Arg)
c.26459T>G (p.Leu8820Arg)
c.26453T>G (p.Leu8818Arg)
c.26441T>G (p.Leu8814Arg)
c.26438T>G (p.Leu8813Arg)
c.26399T>G (p.Leu8800Arg)
c.26384T>G (p.Leu8795Arg)
c.26369T>G (p.Leu8790Arg)
c.26357T>G (p.Leu8786Arg)
c.26354T>G (p.Leu8785Arg)
c.26351T>G (p.Leu8784Arg)
c.*174T>G (n.*174T>G)
c.26507T>G (p.Leu8836Arg)
c.26495T>G (p.Leu8832Arg)
c.26345T>G (p.Leu8782Arg)
c.24785T>G (p.Leu8262Arg)
c.24278T>G (p.Leu8093Arg)
c.19745T>G (p.Leu6582Arg)
c.26483T>G (p.Leu8828Arg)
c.26432T>G (p.Leu8811Arg)
c.26396T>G (p.Leu8799Arg)
c.26243T>G (p.Leu8748Arg)
6g.152122467A>GCA366088480ESR1,SYNE1c.2897T>C (p.Leu966Pro)
c.26363T>C (p.Leu8788Pro)
c.26219T>C (p.Leu8740Pro)
c.1706T>C
c.2081T>C
c.1948T>C
c.2213T>C (n.2213T>C)
c.25148T>C (p.Leu8383Pro)
n.3111T>C
c.5139T>C (n.5139T>C)
n.10055T>C
c.4242T>C (n.4242T>C)
n.9947T>C
c.851-2799A>G (n.851-2799A>G)
n.2977T>C
n.7000T>C
c.2828T>C (p.Leu943Pro)
c.26510T>C (p.Leu8837Pro)
c.26498T>C (p.Leu8833Pro)
c.26489T>C (p.Leu8830Pro)
c.26468T>C (p.Leu8823Pro)
c.26459T>C (p.Leu8820Pro)
c.26453T>C (p.Leu8818Pro)
c.26441T>C (p.Leu8814Pro)
c.26438T>C (p.Leu8813Pro)
c.26399T>C (p.Leu8800Pro)
c.26384T>C (p.Leu8795Pro)
c.26369T>C (p.Leu8790Pro)
c.26357T>C (p.Leu8786Pro)
c.26354T>C (p.Leu8785Pro)
c.26351T>C (p.Leu8784Pro)
c.*174T>C (n.*174T>C)
c.26507T>C (p.Leu8836Pro)
c.26495T>C (p.Leu8832Pro)
c.26345T>C (p.Leu8782Pro)
c.24785T>C (p.Leu8262Pro)
c.24278T>C (p.Leu8093Pro)
c.19745T>C (p.Leu6582Pro)
c.26483T>C (p.Leu8828Pro)
c.26432T>C (p.Leu8811Pro)
c.26396T>C (p.Leu8799Pro)
c.26243T>C (p.Leu8748Pro)
6g.152122467A>TCA366088482ESR1,SYNE1c.2897T>A (p.Leu966His)
c.26363T>A (p.Leu8788His)
c.26219T>A (p.Leu8740His)
c.1706T>A
c.2081T>A
c.1948T>A
c.2213T>A (n.2213T>A)
c.25148T>A (p.Leu8383His)
n.3111T>A
c.5139T>A (n.5139T>A)
n.10055T>A
c.4242T>A (n.4242T>A)
n.9947T>A
c.851-2799A>T (n.851-2799A>T)
n.2977T>A
n.7000T>A
c.2828T>A (p.Leu943His)
c.26510T>A (p.Leu8837His)
c.26498T>A (p.Leu8833His)
c.26489T>A (p.Leu8830His)
c.26468T>A (p.Leu8823His)
c.26459T>A (p.Leu8820His)
c.26453T>A (p.Leu8818His)
c.26441T>A (p.Leu8814His)
c.26438T>A (p.Leu8813His)
c.26399T>A (p.Leu8800His)
c.26384T>A (p.Leu8795His)
c.26369T>A (p.Leu8790His)
c.26357T>A (p.Leu8786His)
c.26354T>A (p.Leu8785His)
c.26351T>A (p.Leu8784His)
c.*174T>A (n.*174T>A)
c.26507T>A (p.Leu8836His)
c.26495T>A (p.Leu8832His)
c.26345T>A (p.Leu8782His)
c.24785T>A (p.Leu8262His)
c.24278T>A (p.Leu8093His)
c.19745T>A (p.Leu6582His)
c.26483T>A (p.Leu8828His)
c.26432T>A (p.Leu8811His)
c.26396T>A (p.Leu8799His)
c.26243T>A (p.Leu8748His)
6g.152122468G>ACA4052580ESR1,SYNE1c.2896C>T (p.Leu966Phe)
c.26362C>T (p.Leu8788Phe)
c.26218C>T (p.Leu8740Phe)
c.1705C>T
c.2080C>T
c.1947C>T
c.2212C>T (n.2212C>T)
c.25147C>T (p.Leu8383Phe)
n.3110C>T
c.5138C>T (n.5138C>T)
n.10054C>T
c.4241C>T (n.4241C>T)
n.9946C>T
c.851-2798G>A (n.851-2798G>A)
n.2976C>T
n.6999C>T
c.2827C>T (p.Leu943Phe)
c.26509C>T (p.Leu8837Phe)
c.26497C>T (p.Leu8833Phe)
c.26488C>T (p.Leu8830Phe)
c.26467C>T (p.Leu8823Phe)
c.26458C>T (p.Leu8820Phe)
c.26452C>T (p.Leu8818Phe)
c.26440C>T (p.Leu8814Phe)
c.26437C>T (p.Leu8813Phe)
c.26398C>T (p.Leu8800Phe)
c.26383C>T (p.Leu8795Phe)
c.26368C>T (p.Leu8790Phe)
c.26356C>T (p.Leu8786Phe)
c.26353C>T (p.Leu8785Phe)
c.26350C>T (p.Leu8784Phe)
c.*173C>T (n.*173C>T)
c.26506C>T (p.Leu8836Phe)
c.26494C>T (p.Leu8832Phe)
c.26344C>T (p.Leu8782Phe)
c.24784C>T (p.Leu8262Phe)
c.24277C>T (p.Leu8093Phe)
c.19744C>T (p.Leu6582Phe)
c.26482C>T (p.Leu8828Phe)
c.26431C>T (p.Leu8811Phe)
c.26395C>T (p.Leu8799Phe)
c.26242C>T (p.Leu8748Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122468G>CCA366088486ESR1,SYNE1c.2896C>G (p.Leu966Val)
c.26362C>G (p.Leu8788Val)
c.26218C>G (p.Leu8740Val)
c.1705C>G
c.2080C>G
c.1947C>G
c.2212C>G (n.2212C>G)
c.25147C>G (p.Leu8383Val)
n.3110C>G
c.5138C>G (n.5138C>G)
n.10054C>G
c.4241C>G (n.4241C>G)
n.9946C>G
c.851-2798G>C (n.851-2798G>C)
n.2976C>G
n.6999C>G
c.2827C>G (p.Leu943Val)
c.26509C>G (p.Leu8837Val)
c.26497C>G (p.Leu8833Val)
c.26488C>G (p.Leu8830Val)
c.26467C>G (p.Leu8823Val)
c.26458C>G (p.Leu8820Val)
c.26452C>G (p.Leu8818Val)
c.26440C>G (p.Leu8814Val)
c.26437C>G (p.Leu8813Val)
c.26398C>G (p.Leu8800Val)
c.26383C>G (p.Leu8795Val)
c.26368C>G (p.Leu8790Val)
c.26356C>G (p.Leu8786Val)
c.26353C>G (p.Leu8785Val)
c.26350C>G (p.Leu8784Val)
c.*173C>G (n.*173C>G)
c.26506C>G (p.Leu8836Val)
c.26494C>G (p.Leu8832Val)
c.26344C>G (p.Leu8782Val)
c.24784C>G (p.Leu8262Val)
c.24277C>G (p.Leu8093Val)
c.19744C>G (p.Leu6582Val)
c.26482C>G (p.Leu8828Val)
c.26431C>G (p.Leu8811Val)
c.26395C>G (p.Leu8799Val)
c.26242C>G (p.Leu8748Val)
6g.152122468G=CA1673188778ESR1,SYNE1c.2896C= (p.Leu966=)
c.26362C= (p.Leu8788=)
c.26218C= (p.Leu8740=)
c.1705C=
c.2080C=
c.1947C=
c.2212C= (n.2212C=)
c.25147C= (p.Leu8383=)
n.3110C=
c.5138C= (n.5138C=)
n.10054C=
c.4241C= (n.4241C=)
n.9946C=
c.851-2798G= (n.851-2798G=)
n.2976C=
n.6999C=
c.2827C= (p.Leu943=)
c.26509C= (p.Leu8837=)
c.26497C= (p.Leu8833=)
c.26488C= (p.Leu8830=)
c.26467C= (p.Leu8823=)
c.26458C= (p.Leu8820=)
c.26452C= (p.Leu8818=)
c.26440C= (p.Leu8814=)
c.26437C= (p.Leu8813=)
c.26398C= (p.Leu8800=)
c.26383C= (p.Leu8795=)
c.26368C= (p.Leu8790=)
c.26356C= (p.Leu8786=)
c.26353C= (p.Leu8785=)
c.26350C= (p.Leu8784=)
c.*173C= (n.*173C=)
c.26506C= (p.Leu8836=)
c.26494C= (p.Leu8832=)
c.26344C= (p.Leu8782=)
c.24784C= (p.Leu8262=)
c.24277C= (p.Leu8093=)
c.19744C= (p.Leu6582=)
c.26482C= (p.Leu8828=)
c.26431C= (p.Leu8811=)
c.26395C= (p.Leu8799=)
c.26242C= (p.Leu8748=)
6g.152122468G>TCA366088489ESR1,SYNE1c.2896C>A (p.Leu966Ile)
c.26362C>A (p.Leu8788Ile)
c.26218C>A (p.Leu8740Ile)
c.1705C>A
c.2080C>A
c.1947C>A
c.2212C>A (n.2212C>A)
c.25147C>A (p.Leu8383Ile)
n.3110C>A
c.5138C>A (n.5138C>A)
n.10054C>A
c.4241C>A (n.4241C>A)
n.9946C>A
c.851-2798G>T (n.851-2798G>T)
n.2976C>A
n.6999C>A
c.2827C>A (p.Leu943Ile)
c.26509C>A (p.Leu8837Ile)
c.26497C>A (p.Leu8833Ile)
c.26488C>A (p.Leu8830Ile)
c.26467C>A (p.Leu8823Ile)
c.26458C>A (p.Leu8820Ile)
c.26452C>A (p.Leu8818Ile)
c.26440C>A (p.Leu8814Ile)
c.26437C>A (p.Leu8813Ile)
c.26398C>A (p.Leu8800Ile)
c.26383C>A (p.Leu8795Ile)
c.26368C>A (p.Leu8790Ile)
c.26356C>A (p.Leu8786Ile)
c.26353C>A (p.Leu8785Ile)
c.26350C>A (p.Leu8784Ile)
c.*173C>A (n.*173C>A)
c.26506C>A (p.Leu8836Ile)
c.26494C>A (p.Leu8832Ile)
c.26344C>A (p.Leu8782Ile)
c.24784C>A (p.Leu8262Ile)
c.24277C>A (p.Leu8093Ile)
c.19744C>A (p.Leu6582Ile)
c.26482C>A (p.Leu8828Ile)
c.26431C>A (p.Leu8811Ile)
c.26395C>A (p.Leu8799Ile)
c.26242C>A (p.Leu8748Ile)
6g.152122469C>ACA366088491ESR1,SYNE1c.2895G>T (p.Met965Ile)
c.26361G>T (p.Met8787Ile)
c.26217G>T (p.Met8739Ile)
c.1704G>T
c.2079G>T
c.1946G>T
c.2211G>T (n.2211G>T)
c.25146G>T (p.Met8382Ile)
n.3109G>T
c.5137G>T (n.5137G>T)
n.10053G>T
c.4240G>T (n.4240G>T)
n.9945G>T
c.851-2797C>A (n.851-2797C>A)
n.2975G>T
n.6998G>T
c.2826G>T (p.Met942Ile)
c.26508G>T (p.Met8836Ile)
c.26496G>T (p.Met8832Ile)
c.26487G>T (p.Met8829Ile)
c.26466G>T (p.Met8822Ile)
c.26457G>T (p.Met8819Ile)
c.26451G>T (p.Met8817Ile)
c.26439G>T (p.Met8813Ile)
c.26436G>T (p.Met8812Ile)
c.26397G>T (p.Met8799Ile)
c.26382G>T (p.Met8794Ile)
c.26367G>T (p.Met8789Ile)
c.26355G>T (p.Met8785Ile)
c.26352G>T (p.Met8784Ile)
c.26349G>T (p.Met8783Ile)
c.*172G>T (n.*172G>T)
c.26505G>T (p.Met8835Ile)
c.26493G>T (p.Met8831Ile)
c.26343G>T (p.Met8781Ile)
c.24783G>T (p.Met8261Ile)
c.24276G>T (p.Met8092Ile)
c.19743G>T (p.Met6581Ile)
c.26481G>T (p.Met8827Ile)
c.26430G>T (p.Met8810Ile)
c.26394G>T (p.Met8798Ile)
c.26241G>T (p.Met8747Ile)
 gnomAD v4
6g.152122469C>GCA366088493ESR1,SYNE1c.2895G>C (p.Met965Ile)
c.26361G>C (p.Met8787Ile)
c.26217G>C (p.Met8739Ile)
c.1704G>C
c.2079G>C
c.1946G>C
c.2211G>C (n.2211G>C)
c.25146G>C (p.Met8382Ile)
n.3109G>C
c.5137G>C (n.5137G>C)
n.10053G>C
c.4240G>C (n.4240G>C)
n.9945G>C
c.851-2797C>G (n.851-2797C>G)
n.2975G>C
n.6998G>C
c.2826G>C (p.Met942Ile)
c.26508G>C (p.Met8836Ile)
c.26496G>C (p.Met8832Ile)
c.26487G>C (p.Met8829Ile)
c.26466G>C (p.Met8822Ile)
c.26457G>C (p.Met8819Ile)
c.26451G>C (p.Met8817Ile)
c.26439G>C (p.Met8813Ile)
c.26436G>C (p.Met8812Ile)
c.26397G>C (p.Met8799Ile)
c.26382G>C (p.Met8794Ile)
c.26367G>C (p.Met8789Ile)
c.26355G>C (p.Met8785Ile)
c.26352G>C (p.Met8784Ile)
c.26349G>C (p.Met8783Ile)
c.*172G>C (n.*172G>C)
c.26505G>C (p.Met8835Ile)
c.26493G>C (p.Met8831Ile)
c.26343G>C (p.Met8781Ile)
c.24783G>C (p.Met8261Ile)
c.24276G>C (p.Met8092Ile)
c.19743G>C (p.Met6581Ile)
c.26481G>C (p.Met8827Ile)
c.26430G>C (p.Met8810Ile)
c.26394G>C (p.Met8798Ile)
c.26241G>C (p.Met8747Ile)
6g.152122469C>TCA366088500ESR1,SYNE1c.2895G>A (p.Met965Ile)
c.26361G>A (p.Met8787Ile)
c.26217G>A (p.Met8739Ile)
c.1704G>A
c.2079G>A
c.1946G>A
c.2211G>A (n.2211G>A)
c.25146G>A (p.Met8382Ile)
n.3109G>A
c.5137G>A (n.5137G>A)
n.10053G>A
c.4240G>A (n.4240G>A)
n.9945G>A
c.851-2797C>T (n.851-2797C>T)
n.2975G>A
n.6998G>A
c.2826G>A (p.Met942Ile)
c.26508G>A (p.Met8836Ile)
c.26496G>A (p.Met8832Ile)
c.26487G>A (p.Met8829Ile)
c.26466G>A (p.Met8822Ile)
c.26457G>A (p.Met8819Ile)
c.26451G>A (p.Met8817Ile)
c.26439G>A (p.Met8813Ile)
c.26436G>A (p.Met8812Ile)
c.26397G>A (p.Met8799Ile)
c.26382G>A (p.Met8794Ile)
c.26367G>A (p.Met8789Ile)
c.26355G>A (p.Met8785Ile)
c.26352G>A (p.Met8784Ile)
c.26349G>A (p.Met8783Ile)
c.*172G>A (n.*172G>A)
c.26505G>A (p.Met8835Ile)
c.26493G>A (p.Met8831Ile)
c.26343G>A (p.Met8781Ile)
c.24783G>A (p.Met8261Ile)
c.24276G>A (p.Met8092Ile)
c.19743G>A (p.Met6581Ile)
c.26481G>A (p.Met8827Ile)
c.26430G>A (p.Met8810Ile)
c.26394G>A (p.Met8798Ile)
c.26241G>A (p.Met8747Ile)
6g.152122470A>CCA366088502ESR1,SYNE1c.2894T>G (p.Met965Arg)
c.26360T>G (p.Met8787Arg)
c.26216T>G (p.Met8739Arg)
c.1703T>G
c.2078T>G
c.1945T>G
c.2210T>G (n.2210T>G)
c.25145T>G (p.Met8382Arg)
n.3108T>G
c.5136T>G (n.5136T>G)
n.10052T>G
c.4239T>G (n.4239T>G)
n.9944T>G
c.851-2796A>C (n.851-2796A>C)
n.2974T>G
n.6997T>G
c.2825T>G (p.Met942Arg)
c.26507T>G (p.Met8836Arg)
c.26495T>G (p.Met8832Arg)
c.26486T>G (p.Met8829Arg)
c.26465T>G (p.Met8822Arg)
c.26456T>G (p.Met8819Arg)
c.26450T>G (p.Met8817Arg)
c.26438T>G (p.Met8813Arg)
c.26435T>G (p.Met8812Arg)
c.26396T>G (p.Met8799Arg)
c.26381T>G (p.Met8794Arg)
c.26366T>G (p.Met8789Arg)
c.26354T>G (p.Met8785Arg)
c.26351T>G (p.Met8784Arg)
c.26348T>G (p.Met8783Arg)
c.*171T>G (n.*171T>G)
c.26504T>G (p.Met8835Arg)
c.26492T>G (p.Met8831Arg)
c.26342T>G (p.Met8781Arg)
c.24782T>G (p.Met8261Arg)
c.24275T>G (p.Met8092Arg)
c.19742T>G (p.Met6581Arg)
c.26480T>G (p.Met8827Arg)
c.26429T>G (p.Met8810Arg)
c.26393T>G (p.Met8798Arg)
c.26240T>G (p.Met8747Arg)
6g.152122470A>GCA366088504ESR1,SYNE1c.2894T>C (p.Met965Thr)
c.26360T>C (p.Met8787Thr)
c.26216T>C (p.Met8739Thr)
c.1703T>C
c.2078T>C
c.1945T>C
c.2210T>C (n.2210T>C)
c.25145T>C (p.Met8382Thr)
n.3108T>C
c.5136T>C (n.5136T>C)
n.10052T>C
c.4239T>C (n.4239T>C)
n.9944T>C
c.851-2796A>G (n.851-2796A>G)
n.2974T>C
n.6997T>C
c.2825T>C (p.Met942Thr)
c.26507T>C (p.Met8836Thr)
c.26495T>C (p.Met8832Thr)
c.26486T>C (p.Met8829Thr)
c.26465T>C (p.Met8822Thr)
c.26456T>C (p.Met8819Thr)
c.26450T>C (p.Met8817Thr)
c.26438T>C (p.Met8813Thr)
c.26435T>C (p.Met8812Thr)
c.26396T>C (p.Met8799Thr)
c.26381T>C (p.Met8794Thr)
c.26366T>C (p.Met8789Thr)
c.26354T>C (p.Met8785Thr)
c.26351T>C (p.Met8784Thr)
c.26348T>C (p.Met8783Thr)
c.*171T>C (n.*171T>C)
c.26504T>C (p.Met8835Thr)
c.26492T>C (p.Met8831Thr)
c.26342T>C (p.Met8781Thr)
c.24782T>C (p.Met8261Thr)
c.24275T>C (p.Met8092Thr)
c.19742T>C (p.Met6581Thr)
c.26480T>C (p.Met8827Thr)
c.26429T>C (p.Met8810Thr)
c.26393T>C (p.Met8798Thr)
c.26240T>C (p.Met8747Thr)
6g.152122470A>TCA366088506ESR1,SYNE1c.2894T>A (p.Met965Lys)
c.26360T>A (p.Met8787Lys)
c.26216T>A (p.Met8739Lys)
c.1703T>A
c.2078T>A
c.1945T>A
c.2210T>A (n.2210T>A)
c.25145T>A (p.Met8382Lys)
n.3108T>A
c.5136T>A (n.5136T>A)
n.10052T>A
c.4239T>A (n.4239T>A)
n.9944T>A
c.851-2796A>T (n.851-2796A>T)
n.2974T>A
n.6997T>A
c.2825T>A (p.Met942Lys)
c.26507T>A (p.Met8836Lys)
c.26495T>A (p.Met8832Lys)
c.26486T>A (p.Met8829Lys)
c.26465T>A (p.Met8822Lys)
c.26456T>A (p.Met8819Lys)
c.26450T>A (p.Met8817Lys)
c.26438T>A (p.Met8813Lys)
c.26435T>A (p.Met8812Lys)
c.26396T>A (p.Met8799Lys)
c.26381T>A (p.Met8794Lys)
c.26366T>A (p.Met8789Lys)
c.26354T>A (p.Met8785Lys)
c.26351T>A (p.Met8784Lys)
c.26348T>A (p.Met8783Lys)
c.*171T>A (n.*171T>A)
c.26504T>A (p.Met8835Lys)
c.26492T>A (p.Met8831Lys)
c.26342T>A (p.Met8781Lys)
c.24782T>A (p.Met8261Lys)
c.24275T>A (p.Met8092Lys)
c.19742T>A (p.Met6581Lys)
c.26480T>A (p.Met8827Lys)
c.26429T>A (p.Met8810Lys)
c.26393T>A (p.Met8798Lys)
c.26240T>A (p.Met8747Lys)
6g.152122471T>ACA366088509ESR1,SYNE1c.2893A>T (p.Met965Leu)
c.26359A>T (p.Met8787Leu)
c.26215A>T (p.Met8739Leu)
c.1702A>T
c.2077A>T
c.1944A>T
c.2209A>T (n.2209A>T)
c.25144A>T (p.Met8382Leu)
n.3107A>T
c.5135A>T (n.5135A>T)
n.10051A>T
c.4238A>T (n.4238A>T)
n.9943A>T
c.851-2795T>A (n.851-2795T>A)
n.2973A>T
n.6996A>T
c.2824A>T (p.Met942Leu)
c.26506A>T (p.Met8836Leu)
c.26494A>T (p.Met8832Leu)
c.26485A>T (p.Met8829Leu)
c.26464A>T (p.Met8822Leu)
c.26455A>T (p.Met8819Leu)
c.26449A>T (p.Met8817Leu)
c.26437A>T (p.Met8813Leu)
c.26434A>T (p.Met8812Leu)
c.26395A>T (p.Met8799Leu)
c.26380A>T (p.Met8794Leu)
c.26365A>T (p.Met8789Leu)
c.26353A>T (p.Met8785Leu)
c.26350A>T (p.Met8784Leu)
c.26347A>T (p.Met8783Leu)
c.*170A>T (n.*170A>T)
c.26503A>T (p.Met8835Leu)
c.26491A>T (p.Met8831Leu)
c.26341A>T (p.Met8781Leu)
c.24781A>T (p.Met8261Leu)
c.24274A>T (p.Met8092Leu)
c.19741A>T (p.Met6581Leu)
c.26479A>T (p.Met8827Leu)
c.26428A>T (p.Met8810Leu)
c.26392A>T (p.Met8798Leu)
c.26239A>T (p.Met8747Leu)
 gnomAD v4
6g.152122471T>CCA366088511ESR1,SYNE1c.2893A>G (p.Met965Val)
c.26359A>G (p.Met8787Val)
c.26215A>G (p.Met8739Val)
c.1702A>G
c.2077A>G
c.1944A>G
c.2209A>G (n.2209A>G)
c.25144A>G (p.Met8382Val)
n.3107A>G
c.5135A>G (n.5135A>G)
n.10051A>G
c.4238A>G (n.4238A>G)
n.9943A>G
c.851-2795T>C (n.851-2795T>C)
n.2973A>G
n.6996A>G
c.2824A>G (p.Met942Val)
c.26506A>G (p.Met8836Val)
c.26494A>G (p.Met8832Val)
c.26485A>G (p.Met8829Val)
c.26464A>G (p.Met8822Val)
c.26455A>G (p.Met8819Val)
c.26449A>G (p.Met8817Val)
c.26437A>G (p.Met8813Val)
c.26434A>G (p.Met8812Val)
c.26395A>G (p.Met8799Val)
c.26380A>G (p.Met8794Val)
c.26365A>G (p.Met8789Val)
c.26353A>G (p.Met8785Val)
c.26350A>G (p.Met8784Val)
c.26347A>G (p.Met8783Val)
c.*170A>G (n.*170A>G)
c.26503A>G (p.Met8835Val)
c.26491A>G (p.Met8831Val)
c.26341A>G (p.Met8781Val)
c.24781A>G (p.Met8261Val)
c.24274A>G (p.Met8092Val)
c.19741A>G (p.Met6581Val)
c.26479A>G (p.Met8827Val)
c.26428A>G (p.Met8810Val)
c.26392A>G (p.Met8798Val)
c.26239A>G (p.Met8747Val)
6g.152122471T>GCA366088513ESR1,SYNE1c.2893A>C (p.Met965Leu)
c.26359A>C (p.Met8787Leu)
c.26215A>C (p.Met8739Leu)
c.1702A>C
c.2077A>C
c.1944A>C
c.2209A>C (n.2209A>C)
c.25144A>C (p.Met8382Leu)
n.3107A>C
c.5135A>C (n.5135A>C)
n.10051A>C
c.4238A>C (n.4238A>C)
n.9943A>C
c.851-2795T>G (n.851-2795T>G)
n.2973A>C
n.6996A>C
c.2824A>C (p.Met942Leu)
c.26506A>C (p.Met8836Leu)
c.26494A>C (p.Met8832Leu)
c.26485A>C (p.Met8829Leu)
c.26464A>C (p.Met8822Leu)
c.26455A>C (p.Met8819Leu)
c.26449A>C (p.Met8817Leu)
c.26437A>C (p.Met8813Leu)
c.26434A>C (p.Met8812Leu)
c.26395A>C (p.Met8799Leu)
c.26380A>C (p.Met8794Leu)
c.26365A>C (p.Met8789Leu)
c.26353A>C (p.Met8785Leu)
c.26350A>C (p.Met8784Leu)
c.26347A>C (p.Met8783Leu)
c.*170A>C (n.*170A>C)
c.26503A>C (p.Met8835Leu)
c.26491A>C (p.Met8831Leu)
c.26341A>C (p.Met8781Leu)
c.24781A>C (p.Met8261Leu)
c.24274A>C (p.Met8092Leu)
c.19741A>C (p.Met6581Leu)
c.26479A>C (p.Met8827Leu)
c.26428A>C (p.Met8810Leu)
c.26392A>C (p.Met8798Leu)
c.26239A>C (p.Met8747Leu)
6g.152122472G>ACA150189452ESR1,SYNE1c.2892C>T (p.Pro964=)
c.26358C>T (p.Pro8786=)
c.26214C>T (p.Pro8738=)
c.1701C>T
c.2076C>T
c.1943C>T
c.2208C>T (n.2208C>T)
c.25143C>T (p.Pro8381=)
n.3106C>T
c.5134C>T (n.5134C>T)
n.10050C>T
c.4237C>T (n.4237C>T)
n.9942C>T
c.851-2794G>A (n.851-2794G>A)
n.2972C>T
n.6995C>T
c.2823C>T (p.Pro941=)
c.26505C>T (p.Pro8835=)
c.26493C>T (p.Pro8831=)
c.26484C>T (p.Pro8828=)
c.26463C>T (p.Pro8821=)
c.26454C>T (p.Pro8818=)
c.26448C>T (p.Pro8816=)
c.26436C>T (p.Pro8812=)
c.26433C>T (p.Pro8811=)
c.26394C>T (p.Pro8798=)
c.26379C>T (p.Pro8793=)
c.26364C>T (p.Pro8788=)
c.26352C>T (p.Pro8784=)
c.26349C>T (p.Pro8783=)
c.26346C>T (p.Pro8782=)
c.*169C>T (n.*169C>T)
c.26502C>T (p.Pro8834=)
c.26490C>T (p.Pro8830=)
c.26340C>T (p.Pro8780=)
c.24780C>T (p.Pro8260=)
c.24273C>T (p.Pro8091=)
c.19740C>T (p.Pro6580=)
c.26478C>T (p.Pro8826=)
c.26427C>T (p.Pro8809=)
c.26391C>T (p.Pro8797=)
c.26238C>T (p.Pro8746=)
 dbSNP gnomAD v2 gnomAD v4
6g.152122472G>CCA452969511ESR1,SYNE1c.2892C>G (p.Pro964=)
c.26358C>G (p.Pro8786=)
c.26214C>G (p.Pro8738=)
c.1701C>G
c.2076C>G
c.1943C>G
c.2208C>G (n.2208C>G)
c.25143C>G (p.Pro8381=)
n.3106C>G
c.5134C>G (n.5134C>G)
n.10050C>G
c.4237C>G (n.4237C>G)
n.9942C>G
c.851-2794G>C (n.851-2794G>C)
n.2972C>G
n.6995C>G
c.2823C>G (p.Pro941=)
c.26505C>G (p.Pro8835=)
c.26493C>G (p.Pro8831=)
c.26484C>G (p.Pro8828=)
c.26463C>G (p.Pro8821=)
c.26454C>G (p.Pro8818=)
c.26448C>G (p.Pro8816=)
c.26436C>G (p.Pro8812=)
c.26433C>G (p.Pro8811=)
c.26394C>G (p.Pro8798=)
c.26379C>G (p.Pro8793=)
c.26364C>G (p.Pro8788=)
c.26352C>G (p.Pro8784=)
c.26349C>G (p.Pro8783=)
c.26346C>G (p.Pro8782=)
c.*169C>G (n.*169C>G)
c.26502C>G (p.Pro8834=)
c.26490C>G (p.Pro8830=)
c.26340C>G (p.Pro8780=)
c.24780C>G (p.Pro8260=)
c.24273C>G (p.Pro8091=)
c.19740C>G (p.Pro6580=)
c.26478C>G (p.Pro8826=)
c.26427C>G (p.Pro8809=)
c.26391C>G (p.Pro8797=)
c.26238C>G (p.Pro8746=)
6g.152122472G=CA1673188790ESR1,SYNE1c.2892C= (p.Pro964=)
c.26358C= (p.Pro8786=)
c.26214C= (p.Pro8738=)
c.1701C=
c.2076C=
c.1943C=
c.2208C= (n.2208C=)
c.25143C= (p.Pro8381=)
n.3106C=
c.5134C= (n.5134C=)
n.10050C=
c.4237C= (n.4237C=)
n.9942C=
c.851-2794G= (n.851-2794G=)
n.2972C=
n.6995C=
c.2823C= (p.Pro941=)
c.26505C= (p.Pro8835=)
c.26493C= (p.Pro8831=)
c.26484C= (p.Pro8828=)
c.26463C= (p.Pro8821=)
c.26454C= (p.Pro8818=)
c.26448C= (p.Pro8816=)
c.26436C= (p.Pro8812=)
c.26433C= (p.Pro8811=)
c.26394C= (p.Pro8798=)
c.26379C= (p.Pro8793=)
c.26364C= (p.Pro8788=)
c.26352C= (p.Pro8784=)
c.26349C= (p.Pro8783=)
c.26346C= (p.Pro8782=)
c.*169C= (n.*169C=)
c.26502C= (p.Pro8834=)
c.26490C= (p.Pro8830=)
c.26340C= (p.Pro8780=)
c.24780C= (p.Pro8260=)
c.24273C= (p.Pro8091=)
c.19740C= (p.Pro6580=)
c.26478C= (p.Pro8826=)
c.26427C= (p.Pro8809=)
c.26391C= (p.Pro8797=)
c.26238C= (p.Pro8746=)
6g.152122472G>TCA452969512ESR1,SYNE1c.2892C>A (p.Pro964=)
c.26358C>A (p.Pro8786=)
c.26214C>A (p.Pro8738=)
c.1701C>A
c.2076C>A
c.1943C>A
c.2208C>A (n.2208C>A)
c.25143C>A (p.Pro8381=)
n.3106C>A
c.5134C>A (n.5134C>A)
n.10050C>A
c.4237C>A (n.4237C>A)
n.9942C>A
c.851-2794G>T (n.851-2794G>T)
n.2972C>A
n.6995C>A
c.2823C>A (p.Pro941=)
c.26505C>A (p.Pro8835=)
c.26493C>A (p.Pro8831=)
c.26484C>A (p.Pro8828=)
c.26463C>A (p.Pro8821=)
c.26454C>A (p.Pro8818=)
c.26448C>A (p.Pro8816=)
c.26436C>A (p.Pro8812=)
c.26433C>A (p.Pro8811=)
c.26394C>A (p.Pro8798=)
c.26379C>A (p.Pro8793=)
c.26364C>A (p.Pro8788=)
c.26352C>A (p.Pro8784=)
c.26349C>A (p.Pro8783=)
c.26346C>A (p.Pro8782=)
c.*169C>A (n.*169C>A)
c.26502C>A (p.Pro8834=)
c.26490C>A (p.Pro8830=)
c.26340C>A (p.Pro8780=)
c.24780C>A (p.Pro8260=)
c.24273C>A (p.Pro8091=)
c.19740C>A (p.Pro6580=)
c.26478C>A (p.Pro8826=)
c.26427C>A (p.Pro8809=)
c.26391C>A (p.Pro8797=)
c.26238C>A (p.Pro8746=)
6g.152122473G>ACA366088519ESR1,SYNE1c.2891C>T (p.Pro964Leu)
c.26357C>T (p.Pro8786Leu)
c.26213C>T (p.Pro8738Leu)
c.1700C>T
c.2075C>T
c.1942C>T
c.2207C>T (n.2207C>T)
c.25142C>T (p.Pro8381Leu)
n.3105C>T
c.5133C>T (n.5133C>T)
n.10049C>T
c.4236C>T (n.4236C>T)
n.9941C>T
c.851-2793G>A (n.851-2793G>A)
n.2971C>T
n.6994C>T
c.2822C>T (p.Pro941Leu)
c.26504C>T (p.Pro8835Leu)
c.26492C>T (p.Pro8831Leu)
c.26483C>T (p.Pro8828Leu)
c.26462C>T (p.Pro8821Leu)
c.26453C>T (p.Pro8818Leu)
c.26447C>T (p.Pro8816Leu)
c.26435C>T (p.Pro8812Leu)
c.26432C>T (p.Pro8811Leu)
c.26393C>T (p.Pro8798Leu)
c.26378C>T (p.Pro8793Leu)
c.26363C>T (p.Pro8788Leu)
c.26351C>T (p.Pro8784Leu)
c.26348C>T (p.Pro8783Leu)
c.26345C>T (p.Pro8782Leu)
c.*168C>T (n.*168C>T)
c.26501C>T (p.Pro8834Leu)
c.26489C>T (p.Pro8830Leu)
c.26339C>T (p.Pro8780Leu)
c.24779C>T (p.Pro8260Leu)
c.24272C>T (p.Pro8091Leu)
c.19739C>T (p.Pro6580Leu)
c.26477C>T (p.Pro8826Leu)
c.26426C>T (p.Pro8809Leu)
c.26390C>T (p.Pro8797Leu)
c.26237C>T (p.Pro8746Leu)
6g.152122473G>CCA366088517ESR1,SYNE1c.2891C>G (p.Pro964Arg)
c.26357C>G (p.Pro8786Arg)
c.26213C>G (p.Pro8738Arg)
c.1700C>G
c.2075C>G
c.1942C>G
c.2207C>G (n.2207C>G)
c.25142C>G (p.Pro8381Arg)
n.3105C>G
c.5133C>G (n.5133C>G)
n.10049C>G
c.4236C>G (n.4236C>G)
n.9941C>G
c.851-2793G>C (n.851-2793G>C)
n.2971C>G
n.6994C>G
c.2822C>G (p.Pro941Arg)
c.26504C>G (p.Pro8835Arg)
c.26492C>G (p.Pro8831Arg)
c.26483C>G (p.Pro8828Arg)
c.26462C>G (p.Pro8821Arg)
c.26453C>G (p.Pro8818Arg)
c.26447C>G (p.Pro8816Arg)
c.26435C>G (p.Pro8812Arg)
c.26432C>G (p.Pro8811Arg)
c.26393C>G (p.Pro8798Arg)
c.26378C>G (p.Pro8793Arg)
c.26363C>G (p.Pro8788Arg)
c.26351C>G (p.Pro8784Arg)
c.26348C>G (p.Pro8783Arg)
c.26345C>G (p.Pro8782Arg)
c.*168C>G (n.*168C>G)
c.26501C>G (p.Pro8834Arg)
c.26489C>G (p.Pro8830Arg)
c.26339C>G (p.Pro8780Arg)
c.24779C>G (p.Pro8260Arg)
c.24272C>G (p.Pro8091Arg)
c.19739C>G (p.Pro6580Arg)
c.26477C>G (p.Pro8826Arg)
c.26426C>G (p.Pro8809Arg)
c.26390C>G (p.Pro8797Arg)
c.26237C>G (p.Pro8746Arg)
 gnomAD v4
6g.152122473G>TCA366088521ESR1,SYNE1c.2891C>A (p.Pro964His)
c.26357C>A (p.Pro8786His)
c.26213C>A (p.Pro8738His)
c.1700C>A
c.2075C>A
c.1942C>A
c.2207C>A (n.2207C>A)
c.25142C>A (p.Pro8381His)
n.3105C>A
c.5133C>A (n.5133C>A)
n.10049C>A
c.4236C>A (n.4236C>A)
n.9941C>A
c.851-2793G>T (n.851-2793G>T)
n.2971C>A
n.6994C>A
c.2822C>A (p.Pro941His)
c.26504C>A (p.Pro8835His)
c.26492C>A (p.Pro8831His)
c.26483C>A (p.Pro8828His)
c.26462C>A (p.Pro8821His)
c.26453C>A (p.Pro8818His)
c.26447C>A (p.Pro8816His)
c.26435C>A (p.Pro8812His)
c.26432C>A (p.Pro8811His)
c.26393C>A (p.Pro8798His)
c.26378C>A (p.Pro8793His)
c.26363C>A (p.Pro8788His)
c.26351C>A (p.Pro8784His)
c.26348C>A (p.Pro8783His)
c.26345C>A (p.Pro8782His)
c.*168C>A (n.*168C>A)
c.26501C>A (p.Pro8834His)
c.26489C>A (p.Pro8830His)
c.26339C>A (p.Pro8780His)
c.24779C>A (p.Pro8260His)
c.24272C>A (p.Pro8091His)
c.19739C>A (p.Pro6580His)
c.26477C>A (p.Pro8826His)
c.26426C>A (p.Pro8809His)
c.26390C>A (p.Pro8797His)
c.26237C>A (p.Pro8746His)
 gnomAD v4
6g.152122474G>ACA366088523ESR1,SYNE1c.2890C>T (p.Pro964Ser)
c.26356C>T (p.Pro8786Ser)
c.26212C>T (p.Pro8738Ser)
c.1699C>T
c.2074C>T
c.1941C>T
c.2206C>T (n.2206C>T)
c.25141C>T (p.Pro8381Ser)
n.3104C>T
c.5132C>T (n.5132C>T)
n.10048C>T
c.4235C>T (n.4235C>T)
n.9940C>T
c.851-2792G>A (n.851-2792G>A)
n.2970C>T
n.6993C>T
c.2821C>T (p.Pro941Ser)
c.26503C>T (p.Pro8835Ser)
c.26491C>T (p.Pro8831Ser)
c.26482C>T (p.Pro8828Ser)
c.26461C>T (p.Pro8821Ser)
c.26452C>T (p.Pro8818Ser)
c.26446C>T (p.Pro8816Ser)
c.26434C>T (p.Pro8812Ser)
c.26431C>T (p.Pro8811Ser)
c.26392C>T (p.Pro8798Ser)
c.26377C>T (p.Pro8793Ser)
c.26362C>T (p.Pro8788Ser)
c.26350C>T (p.Pro8784Ser)
c.26347C>T (p.Pro8783Ser)
c.26344C>T (p.Pro8782Ser)
c.*167C>T (n.*167C>T)
c.26500C>T (p.Pro8834Ser)
c.26488C>T (p.Pro8830Ser)
c.26338C>T (p.Pro8780Ser)
c.24778C>T (p.Pro8260Ser)
c.24271C>T (p.Pro8091Ser)
c.19738C>T (p.Pro6580Ser)
c.26476C>T (p.Pro8826Ser)
c.26425C>T (p.Pro8809Ser)
c.26389C>T (p.Pro8797Ser)
c.26236C>T (p.Pro8746Ser)
6g.152122474G>CCA366088524ESR1,SYNE1c.2890C>G (p.Pro964Ala)
c.26356C>G (p.Pro8786Ala)
c.26212C>G (p.Pro8738Ala)
c.1699C>G
c.2074C>G
c.1941C>G
c.2206C>G (n.2206C>G)
c.25141C>G (p.Pro8381Ala)
n.3104C>G
c.5132C>G (n.5132C>G)
n.10048C>G
c.4235C>G (n.4235C>G)
n.9940C>G
c.851-2792G>C (n.851-2792G>C)
n.2970C>G
n.6993C>G
c.2821C>G (p.Pro941Ala)
c.26503C>G (p.Pro8835Ala)
c.26491C>G (p.Pro8831Ala)
c.26482C>G (p.Pro8828Ala)
c.26461C>G (p.Pro8821Ala)
c.26452C>G (p.Pro8818Ala)
c.26446C>G (p.Pro8816Ala)
c.26434C>G (p.Pro8812Ala)
c.26431C>G (p.Pro8811Ala)
c.26392C>G (p.Pro8798Ala)
c.26377C>G (p.Pro8793Ala)
c.26362C>G (p.Pro8788Ala)
c.26350C>G (p.Pro8784Ala)
c.26347C>G (p.Pro8783Ala)
c.26344C>G (p.Pro8782Ala)
c.*167C>G (n.*167C>G)
c.26500C>G (p.Pro8834Ala)
c.26488C>G (p.Pro8830Ala)
c.26338C>G (p.Pro8780Ala)
c.24778C>G (p.Pro8260Ala)
c.24271C>G (p.Pro8091Ala)
c.19738C>G (p.Pro6580Ala)
c.26476C>G (p.Pro8826Ala)
c.26425C>G (p.Pro8809Ala)
c.26389C>G (p.Pro8797Ala)
c.26236C>G (p.Pro8746Ala)
6g.152122474G>TCA366088525ESR1,SYNE1c.2890C>A (p.Pro964Thr)
c.26356C>A (p.Pro8786Thr)
c.26212C>A (p.Pro8738Thr)
c.1699C>A
c.2074C>A
c.1941C>A
c.2206C>A (n.2206C>A)
c.25141C>A (p.Pro8381Thr)
n.3104C>A
c.5132C>A (n.5132C>A)
n.10048C>A
c.4235C>A (n.4235C>A)
n.9940C>A
c.851-2792G>T (n.851-2792G>T)
n.2970C>A
n.6993C>A
c.2821C>A (p.Pro941Thr)
c.26503C>A (p.Pro8835Thr)
c.26491C>A (p.Pro8831Thr)
c.26482C>A (p.Pro8828Thr)
c.26461C>A (p.Pro8821Thr)
c.26452C>A (p.Pro8818Thr)
c.26446C>A (p.Pro8816Thr)
c.26434C>A (p.Pro8812Thr)
c.26431C>A (p.Pro8811Thr)
c.26392C>A (p.Pro8798Thr)
c.26377C>A (p.Pro8793Thr)
c.26362C>A (p.Pro8788Thr)
c.26350C>A (p.Pro8784Thr)
c.26347C>A (p.Pro8783Thr)
c.26344C>A (p.Pro8782Thr)
c.*167C>A (n.*167C>A)
c.26500C>A (p.Pro8834Thr)
c.26488C>A (p.Pro8830Thr)
c.26338C>A (p.Pro8780Thr)
c.24778C>A (p.Pro8260Thr)
c.24271C>A (p.Pro8091Thr)
c.19738C>A (p.Pro6580Thr)
c.26476C>A (p.Pro8826Thr)
c.26425C>A (p.Pro8809Thr)
c.26389C>A (p.Pro8797Thr)
c.26236C>A (p.Pro8746Thr)
 gnomAD v4
6g.152122475G>ACA4052581ESR1,SYNE1c.2889C>T (p.His963=)
c.26355C>T (p.His8785=)
c.26211C>T (p.His8737=)
c.1698C>T
c.2073C>T
c.1940C>T
c.2205C>T (n.2205C>T)
c.25140C>T (p.His8380=)
n.3103C>T
c.5131C>T (n.5131C>T)
n.10047C>T
c.4234C>T (n.4234C>T)
n.9939C>T
c.851-2791G>A (n.851-2791G>A)
n.2969C>T
n.6992C>T
c.2820C>T (p.His940=)
c.26502C>T (p.His8834=)
c.26490C>T (p.His8830=)
c.26481C>T (p.His8827=)
c.26460C>T (p.His8820=)
c.26451C>T (p.His8817=)
c.26445C>T (p.His8815=)
c.26433C>T (p.His8811=)
c.26430C>T (p.His8810=)
c.26391C>T (p.His8797=)
c.26376C>T (p.His8792=)
c.26361C>T (p.His8787=)
c.26349C>T (p.His8783=)
c.26346C>T (p.His8782=)
c.26343C>T (p.His8781=)
c.*166C>T (n.*166C>T)
c.26499C>T (p.His8833=)
c.26487C>T (p.His8829=)
c.26337C>T (p.His8779=)
c.24777C>T (p.His8259=)
c.24270C>T (p.His8090=)
c.19737C>T (p.His6579=)
c.26475C>T (p.His8825=)
c.26424C>T (p.His8808=)
c.26388C>T (p.His8796=)
c.26235C>T (p.His8745=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122475G>CCA366088529ESR1,SYNE1c.2889C>G (p.His963Gln)
c.26355C>G (p.His8785Gln)
c.26211C>G (p.His8737Gln)
c.1698C>G
c.2073C>G
c.1940C>G
c.2205C>G (n.2205C>G)
c.25140C>G (p.His8380Gln)
n.3103C>G
c.5131C>G (n.5131C>G)
n.10047C>G
c.4234C>G (n.4234C>G)
n.9939C>G
c.851-2791G>C (n.851-2791G>C)
n.2969C>G
n.6992C>G
c.2820C>G (p.His940Gln)
c.26502C>G (p.His8834Gln)
c.26490C>G (p.His8830Gln)
c.26481C>G (p.His8827Gln)
c.26460C>G (p.His8820Gln)
c.26451C>G (p.His8817Gln)
c.26445C>G (p.His8815Gln)
c.26433C>G (p.His8811Gln)
c.26430C>G (p.His8810Gln)
c.26391C>G (p.His8797Gln)
c.26376C>G (p.His8792Gln)
c.26361C>G (p.His8787Gln)
c.26349C>G (p.His8783Gln)
c.26346C>G (p.His8782Gln)
c.26343C>G (p.His8781Gln)
c.*166C>G (n.*166C>G)
c.26499C>G (p.His8833Gln)
c.26487C>G (p.His8829Gln)
c.26337C>G (p.His8779Gln)
c.24777C>G (p.His8259Gln)
c.24270C>G (p.His8090Gln)
c.19737C>G (p.His6579Gln)
c.26475C>G (p.His8825Gln)
c.26424C>G (p.His8808Gln)
c.26388C>G (p.His8796Gln)
c.26235C>G (p.His8745Gln)
6g.152122475G=CA1673188799ESR1,SYNE1c.2889C= (p.His963=)
c.26355C= (p.His8785=)
c.26211C= (p.His8737=)
c.1698C=
c.2073C=
c.1940C=
c.2205C= (n.2205C=)
c.25140C= (p.His8380=)
n.3103C=
c.5131C= (n.5131C=)
n.10047C=
c.4234C= (n.4234C=)
n.9939C=
c.851-2791G= (n.851-2791G=)
n.2969C=
n.6992C=
c.2820C= (p.His940=)
c.26502C= (p.His8834=)
c.26490C= (p.His8830=)
c.26481C= (p.His8827=)
c.26460C= (p.His8820=)
c.26451C= (p.His8817=)
c.26445C= (p.His8815=)
c.26433C= (p.His8811=)
c.26430C= (p.His8810=)
c.26391C= (p.His8797=)
c.26376C= (p.His8792=)
c.26361C= (p.His8787=)
c.26349C= (p.His8783=)
c.26346C= (p.His8782=)
c.26343C= (p.His8781=)
c.*166C= (n.*166C=)
c.26499C= (p.His8833=)
c.26487C= (p.His8829=)
c.26337C= (p.His8779=)
c.24777C= (p.His8259=)
c.24270C= (p.His8090=)
c.19737C= (p.His6579=)
c.26475C= (p.His8825=)
c.26424C= (p.His8808=)
c.26388C= (p.His8796=)
c.26235C= (p.His8745=)
6g.152122475G>TCA366088530ESR1,SYNE1c.2889C>A (p.His963Gln)
c.26355C>A (p.His8785Gln)
c.26211C>A (p.His8737Gln)
c.1698C>A
c.2073C>A
c.1940C>A
c.2205C>A (n.2205C>A)
c.25140C>A (p.His8380Gln)
n.3103C>A
c.5131C>A (n.5131C>A)
n.10047C>A
c.4234C>A (n.4234C>A)
n.9939C>A
c.851-2791G>T (n.851-2791G>T)
n.2969C>A
n.6992C>A
c.2820C>A (p.His940Gln)
c.26502C>A (p.His8834Gln)
c.26490C>A (p.His8830Gln)
c.26481C>A (p.His8827Gln)
c.26460C>A (p.His8820Gln)
c.26451C>A (p.His8817Gln)
c.26445C>A (p.His8815Gln)
c.26433C>A (p.His8811Gln)
c.26430C>A (p.His8810Gln)
c.26391C>A (p.His8797Gln)
c.26376C>A (p.His8792Gln)
c.26361C>A (p.His8787Gln)
c.26349C>A (p.His8783Gln)
c.26346C>A (p.His8782Gln)
c.26343C>A (p.His8781Gln)
c.*166C>A (n.*166C>A)
c.26499C>A (p.His8833Gln)
c.26487C>A (p.His8829Gln)
c.26337C>A (p.His8779Gln)
c.24777C>A (p.His8259Gln)
c.24270C>A (p.His8090Gln)
c.19737C>A (p.His6579Gln)
c.26475C>A (p.His8825Gln)
c.26424C>A (p.His8808Gln)
c.26388C>A (p.His8796Gln)
c.26235C>A (p.His8745Gln)
6g.152122476T>ACA366088532ESR1,SYNE1c.2888A>T (p.His963Leu)
c.26354A>T (p.His8785Leu)
c.26210A>T (p.His8737Leu)
c.1697A>T
c.2072A>T
c.1939A>T
c.2204A>T (n.2204A>T)
c.25139A>T (p.His8380Leu)
n.3102A>T
c.5130A>T (n.5130A>T)
n.10046A>T
c.4233A>T (n.4233A>T)
n.9938A>T
c.851-2790T>A (n.851-2790T>A)
n.2968A>T
n.6991A>T
c.2819A>T (p.His940Leu)
c.26501A>T (p.His8834Leu)
c.26489A>T (p.His8830Leu)
c.26480A>T (p.His8827Leu)
c.26459A>T (p.His8820Leu)
c.26450A>T (p.His8817Leu)
c.26444A>T (p.His8815Leu)
c.26432A>T (p.His8811Leu)
c.26429A>T (p.His8810Leu)
c.26390A>T (p.His8797Leu)
c.26375A>T (p.His8792Leu)
c.26360A>T (p.His8787Leu)
c.26348A>T (p.His8783Leu)
c.26345A>T (p.His8782Leu)
c.26342A>T (p.His8781Leu)
c.*165A>T (n.*165A>T)
c.26498A>T (p.His8833Leu)
c.26486A>T (p.His8829Leu)
c.26336A>T (p.His8779Leu)
c.24776A>T (p.His8259Leu)
c.24269A>T (p.His8090Leu)
c.19736A>T (p.His6579Leu)
c.26474A>T (p.His8825Leu)
c.26423A>T (p.His8808Leu)
c.26387A>T (p.His8796Leu)
c.26234A>T (p.His8745Leu)
6g.152122476T>CCA366088534ESR1,SYNE1c.2888A>G (p.His963Arg)
c.26354A>G (p.His8785Arg)
c.26210A>G (p.His8737Arg)
c.1697A>G
c.2072A>G
c.1939A>G
c.2204A>G (n.2204A>G)
c.25139A>G (p.His8380Arg)
n.3102A>G
c.5130A>G (n.5130A>G)
n.10046A>G
c.4233A>G (n.4233A>G)
n.9938A>G
c.851-2790T>C (n.851-2790T>C)
n.2968A>G
n.6991A>G
c.2819A>G (p.His940Arg)
c.26501A>G (p.His8834Arg)
c.26489A>G (p.His8830Arg)
c.26480A>G (p.His8827Arg)
c.26459A>G (p.His8820Arg)
c.26450A>G (p.His8817Arg)
c.26444A>G (p.His8815Arg)
c.26432A>G (p.His8811Arg)
c.26429A>G (p.His8810Arg)
c.26390A>G (p.His8797Arg)
c.26375A>G (p.His8792Arg)
c.26360A>G (p.His8787Arg)
c.26348A>G (p.His8783Arg)
c.26345A>G (p.His8782Arg)
c.26342A>G (p.His8781Arg)
c.*165A>G (n.*165A>G)
c.26498A>G (p.His8833Arg)
c.26486A>G (p.His8829Arg)
c.26336A>G (p.His8779Arg)
c.24776A>G (p.His8259Arg)
c.24269A>G (p.His8090Arg)
c.19736A>G (p.His6579Arg)
c.26474A>G (p.His8825Arg)
c.26423A>G (p.His8808Arg)
c.26387A>G (p.His8796Arg)
c.26234A>G (p.His8745Arg)
6g.152122476T>GCA366088536ESR1,SYNE1c.2888A>C (p.His963Pro)
c.26354A>C (p.His8785Pro)
c.26210A>C (p.His8737Pro)
c.1697A>C
c.2072A>C
c.1939A>C
c.2204A>C (n.2204A>C)
c.25139A>C (p.His8380Pro)
n.3102A>C
c.5130A>C (n.5130A>C)
n.10046A>C
c.4233A>C (n.4233A>C)
n.9938A>C
c.851-2790T>G (n.851-2790T>G)
n.2968A>C
n.6991A>C
c.2819A>C (p.His940Pro)
c.26501A>C (p.His8834Pro)
c.26489A>C (p.His8830Pro)
c.26480A>C (p.His8827Pro)
c.26459A>C (p.His8820Pro)
c.26450A>C (p.His8817Pro)
c.26444A>C (p.His8815Pro)
c.26432A>C (p.His8811Pro)
c.26429A>C (p.His8810Pro)
c.26390A>C (p.His8797Pro)
c.26375A>C (p.His8792Pro)
c.26360A>C (p.His8787Pro)
c.26348A>C (p.His8783Pro)
c.26345A>C (p.His8782Pro)
c.26342A>C (p.His8781Pro)
c.*165A>C (n.*165A>C)
c.26498A>C (p.His8833Pro)
c.26486A>C (p.His8829Pro)
c.26336A>C (p.His8779Pro)
c.24776A>C (p.His8259Pro)
c.24269A>C (p.His8090Pro)
c.19736A>C (p.His6579Pro)
c.26474A>C (p.His8825Pro)
c.26423A>C (p.His8808Pro)
c.26387A>C (p.His8796Pro)
c.26234A>C (p.His8745Pro)
6g.152122477G>ACA366088539ESR1,SYNE1c.2887C>T (p.His963Tyr)
c.26353C>T (p.His8785Tyr)
c.26209C>T (p.His8737Tyr)
c.1696C>T
c.2071C>T
c.1938C>T
c.2203C>T (n.2203C>T)
c.25138C>T (p.His8380Tyr)
n.3101C>T
c.5129C>T (n.5129C>T)
n.10045C>T
c.4232C>T (n.4232C>T)
n.9937C>T
c.851-2789G>A (n.851-2789G>A)
n.2967C>T
n.6990C>T
c.2818C>T (p.His940Tyr)
c.26500C>T (p.His8834Tyr)
c.26488C>T (p.His8830Tyr)
c.26479C>T (p.His8827Tyr)
c.26458C>T (p.His8820Tyr)
c.26449C>T (p.His8817Tyr)
c.26443C>T (p.His8815Tyr)
c.26431C>T (p.His8811Tyr)
c.26428C>T (p.His8810Tyr)
c.26389C>T (p.His8797Tyr)
c.26374C>T (p.His8792Tyr)
c.26359C>T (p.His8787Tyr)
c.26347C>T (p.His8783Tyr)
c.26344C>T (p.His8782Tyr)
c.26341C>T (p.His8781Tyr)
c.*164C>T (n.*164C>T)
c.26497C>T (p.His8833Tyr)
c.26485C>T (p.His8829Tyr)
c.26335C>T (p.His8779Tyr)
c.24775C>T (p.His8259Tyr)
c.24268C>T (p.His8090Tyr)
c.19735C>T (p.His6579Tyr)
c.26473C>T (p.His8825Tyr)
c.26422C>T (p.His8808Tyr)
c.26386C>T (p.His8796Tyr)
c.26233C>T (p.His8745Tyr)
6g.152122477G>CCA366088541ESR1,SYNE1c.2887C>G (p.His963Asp)
c.26353C>G (p.His8785Asp)
c.26209C>G (p.His8737Asp)
c.1696C>G
c.2071C>G
c.1938C>G
c.2203C>G (n.2203C>G)
c.25138C>G (p.His8380Asp)
n.3101C>G
c.5129C>G (n.5129C>G)
n.10045C>G
c.4232C>G (n.4232C>G)
n.9937C>G
c.851-2789G>C (n.851-2789G>C)
n.2967C>G
n.6990C>G
c.2818C>G (p.His940Asp)
c.26500C>G (p.His8834Asp)
c.26488C>G (p.His8830Asp)
c.26479C>G (p.His8827Asp)
c.26458C>G (p.His8820Asp)
c.26449C>G (p.His8817Asp)
c.26443C>G (p.His8815Asp)
c.26431C>G (p.His8811Asp)
c.26428C>G (p.His8810Asp)
c.26389C>G (p.His8797Asp)
c.26374C>G (p.His8792Asp)
c.26359C>G (p.His8787Asp)
c.26347C>G (p.His8783Asp)
c.26344C>G (p.His8782Asp)
c.26341C>G (p.His8781Asp)
c.*164C>G (n.*164C>G)
c.26497C>G (p.His8833Asp)
c.26485C>G (p.His8829Asp)
c.26335C>G (p.His8779Asp)
c.24775C>G (p.His8259Asp)
c.24268C>G (p.His8090Asp)
c.19735C>G (p.His6579Asp)
c.26473C>G (p.His8825Asp)
c.26422C>G (p.His8808Asp)
c.26386C>G (p.His8796Asp)
c.26233C>G (p.His8745Asp)
6g.152122477G>TCA366088543ESR1,SYNE1c.2887C>A (p.His963Asn)
c.26353C>A (p.His8785Asn)
c.26209C>A (p.His8737Asn)
c.1696C>A
c.2071C>A
c.1938C>A
c.2203C>A (n.2203C>A)
c.25138C>A (p.His8380Asn)
n.3101C>A
c.5129C>A (n.5129C>A)
n.10045C>A
c.4232C>A (n.4232C>A)
n.9937C>A
c.851-2789G>T (n.851-2789G>T)
n.2967C>A
n.6990C>A
c.2818C>A (p.His940Asn)
c.26500C>A (p.His8834Asn)
c.26488C>A (p.His8830Asn)
c.26479C>A (p.His8827Asn)
c.26458C>A (p.His8820Asn)
c.26449C>A (p.His8817Asn)
c.26443C>A (p.His8815Asn)
c.26431C>A (p.His8811Asn)
c.26428C>A (p.His8810Asn)
c.26389C>A (p.His8797Asn)
c.26374C>A (p.His8792Asn)
c.26359C>A (p.His8787Asn)
c.26347C>A (p.His8783Asn)
c.26344C>A (p.His8782Asn)
c.26341C>A (p.His8781Asn)
c.*164C>A (n.*164C>A)
c.26497C>A (p.His8833Asn)
c.26485C>A (p.His8829Asn)
c.26335C>A (p.His8779Asn)
c.24775C>A (p.His8259Asn)
c.24268C>A (p.His8090Asn)
c.19735C>A (p.His6579Asn)
c.26473C>A (p.His8825Asn)
c.26422C>A (p.His8808Asn)
c.26386C>A (p.His8796Asn)
c.26233C>A (p.His8745Asn)
 gnomAD v4
6g.152122478G>ACA452969516ESR1,SYNE1c.2886C>T (p.Phe962=)
c.26352C>T (p.Phe8784=)
c.26208C>T (p.Phe8736=)
c.1695C>T
c.2070C>T
c.1937C>T
c.2202C>T (n.2202C>T)
c.25137C>T (p.Phe8379=)
n.3100C>T
c.5128C>T (n.5128C>T)
n.10044C>T
c.4231C>T (n.4231C>T)
n.9936C>T
c.851-2788G>A (n.851-2788G>A)
n.2966C>T
n.6989C>T
c.2817C>T (p.Phe939=)
c.26499C>T (p.Phe8833=)
c.26487C>T (p.Phe8829=)
c.26478C>T (p.Phe8826=)
c.26457C>T (p.Phe8819=)
c.26448C>T (p.Phe8816=)
c.26442C>T (p.Phe8814=)
c.26430C>T (p.Phe8810=)
c.26427C>T (p.Phe8809=)
c.26388C>T (p.Phe8796=)
c.26373C>T (p.Phe8791=)
c.26358C>T (p.Phe8786=)
c.26346C>T (p.Phe8782=)
c.26343C>T (p.Phe8781=)
c.26340C>T (p.Phe8780=)
c.*163C>T (n.*163C>T)
c.26496C>T (p.Phe8832=)
c.26484C>T (p.Phe8828=)
c.26334C>T (p.Phe8778=)
c.24774C>T (p.Phe8258=)
c.24267C>T (p.Phe8089=)
c.19734C>T (p.Phe6578=)
c.26472C>T (p.Phe8824=)
c.26421C>T (p.Phe8807=)
c.26385C>T (p.Phe8795=)
c.26232C>T (p.Phe8744=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122478G>CCA366088547ESR1,SYNE1c.2886C>G (p.Phe962Leu)
c.26352C>G (p.Phe8784Leu)
c.26208C>G (p.Phe8736Leu)
c.1695C>G
c.2070C>G
c.1937C>G
c.2202C>G (n.2202C>G)
c.25137C>G (p.Phe8379Leu)
n.3100C>G
c.5128C>G (n.5128C>G)
n.10044C>G
c.4231C>G (n.4231C>G)
n.9936C>G
c.851-2788G>C (n.851-2788G>C)
n.2966C>G
n.6989C>G
c.2817C>G (p.Phe939Leu)
c.26499C>G (p.Phe8833Leu)
c.26487C>G (p.Phe8829Leu)
c.26478C>G (p.Phe8826Leu)
c.26457C>G (p.Phe8819Leu)
c.26448C>G (p.Phe8816Leu)
c.26442C>G (p.Phe8814Leu)
c.26430C>G (p.Phe8810Leu)
c.26427C>G (p.Phe8809Leu)
c.26388C>G (p.Phe8796Leu)
c.26373C>G (p.Phe8791Leu)
c.26358C>G (p.Phe8786Leu)
c.26346C>G (p.Phe8782Leu)
c.26343C>G (p.Phe8781Leu)
c.26340C>G (p.Phe8780Leu)
c.*163C>G (n.*163C>G)
c.26496C>G (p.Phe8832Leu)
c.26484C>G (p.Phe8828Leu)
c.26334C>G (p.Phe8778Leu)
c.24774C>G (p.Phe8258Leu)
c.24267C>G (p.Phe8089Leu)
c.19734C>G (p.Phe6578Leu)
c.26472C>G (p.Phe8824Leu)
c.26421C>G (p.Phe8807Leu)
c.26385C>G (p.Phe8795Leu)
c.26232C>G (p.Phe8744Leu)
6g.152122478G=CA1673188808ESR1,SYNE1c.2886C= (p.Phe962=)
c.26352C= (p.Phe8784=)
c.26208C= (p.Phe8736=)
c.1695C=
c.2070C=
c.1937C=
c.2202C= (n.2202C=)
c.25137C= (p.Phe8379=)
n.3100C=
c.5128C= (n.5128C=)
n.10044C=
c.4231C= (n.4231C=)
n.9936C=
c.851-2788G= (n.851-2788G=)
n.2966C=
n.6989C=
c.2817C= (p.Phe939=)
c.26499C= (p.Phe8833=)
c.26487C= (p.Phe8829=)
c.26478C= (p.Phe8826=)
c.26457C= (p.Phe8819=)
c.26448C= (p.Phe8816=)
c.26442C= (p.Phe8814=)
c.26430C= (p.Phe8810=)
c.26427C= (p.Phe8809=)
c.26388C= (p.Phe8796=)
c.26373C= (p.Phe8791=)
c.26358C= (p.Phe8786=)
c.26346C= (p.Phe8782=)
c.26343C= (p.Phe8781=)
c.26340C= (p.Phe8780=)
c.*163C= (n.*163C=)
c.26496C= (p.Phe8832=)
c.26484C= (p.Phe8828=)
c.26334C= (p.Phe8778=)
c.24774C= (p.Phe8258=)
c.24267C= (p.Phe8089=)
c.19734C= (p.Phe6578=)
c.26472C= (p.Phe8824=)
c.26421C= (p.Phe8807=)
c.26385C= (p.Phe8795=)
c.26232C= (p.Phe8744=)
6g.152122478G>TCA366088545ESR1,SYNE1c.2886C>A (p.Phe962Leu)
c.26352C>A (p.Phe8784Leu)
c.26208C>A (p.Phe8736Leu)
c.1695C>A
c.2070C>A
c.1937C>A
c.2202C>A (n.2202C>A)
c.25137C>A (p.Phe8379Leu)
n.3100C>A
c.5128C>A (n.5128C>A)
n.10044C>A
c.4231C>A (n.4231C>A)
n.9936C>A
c.851-2788G>T (n.851-2788G>T)
n.2966C>A
n.6989C>A
c.2817C>A (p.Phe939Leu)
c.26499C>A (p.Phe8833Leu)
c.26487C>A (p.Phe8829Leu)
c.26478C>A (p.Phe8826Leu)
c.26457C>A (p.Phe8819Leu)
c.26448C>A (p.Phe8816Leu)
c.26442C>A (p.Phe8814Leu)
c.26430C>A (p.Phe8810Leu)
c.26427C>A (p.Phe8809Leu)
c.26388C>A (p.Phe8796Leu)
c.26373C>A (p.Phe8791Leu)
c.26358C>A (p.Phe8786Leu)
c.26346C>A (p.Phe8782Leu)
c.26343C>A (p.Phe8781Leu)
c.26340C>A (p.Phe8780Leu)
c.*163C>A (n.*163C>A)
c.26496C>A (p.Phe8832Leu)
c.26484C>A (p.Phe8828Leu)
c.26334C>A (p.Phe8778Leu)
c.24774C>A (p.Phe8258Leu)
c.24267C>A (p.Phe8089Leu)
c.19734C>A (p.Phe6578Leu)
c.26472C>A (p.Phe8824Leu)
c.26421C>A (p.Phe8807Leu)
c.26385C>A (p.Phe8795Leu)
c.26232C>A (p.Phe8744Leu)
 ClinVar dbSNP gnomAD v4
6g.152122479A>CCA366088550ESR1,SYNE1c.2885T>G (p.Phe962Cys)
c.26351T>G (p.Phe8784Cys)
c.26207T>G (p.Phe8736Cys)
c.1694T>G
c.2069T>G
c.1936T>G
c.2201T>G (n.2201T>G)
c.25136T>G (p.Phe8379Cys)
n.3099T>G
c.5127T>G (n.5127T>G)
n.10043T>G
c.4230T>G (n.4230T>G)
n.9935T>G
c.851-2787A>C (n.851-2787A>C)
n.2965T>G
n.6988T>G
c.2816T>G (p.Phe939Cys)
c.26498T>G (p.Phe8833Cys)
c.26486T>G (p.Phe8829Cys)
c.26477T>G (p.Phe8826Cys)
c.26456T>G (p.Phe8819Cys)
c.26447T>G (p.Phe8816Cys)
c.26441T>G (p.Phe8814Cys)
c.26429T>G (p.Phe8810Cys)
c.26426T>G (p.Phe8809Cys)
c.26387T>G (p.Phe8796Cys)
c.26372T>G (p.Phe8791Cys)
c.26357T>G (p.Phe8786Cys)
c.26345T>G (p.Phe8782Cys)
c.26342T>G (p.Phe8781Cys)
c.26339T>G (p.Phe8780Cys)
c.*162T>G (n.*162T>G)
c.26495T>G (p.Phe8832Cys)
c.26483T>G (p.Phe8828Cys)
c.26333T>G (p.Phe8778Cys)
c.24773T>G (p.Phe8258Cys)
c.24266T>G (p.Phe8089Cys)
c.19733T>G (p.Phe6578Cys)
c.26471T>G (p.Phe8824Cys)
c.26420T>G (p.Phe8807Cys)
c.26384T>G (p.Phe8795Cys)
c.26231T>G (p.Phe8744Cys)
6g.152122479A>GCA366088553ESR1,SYNE1c.2885T>C (p.Phe962Ser)
c.26351T>C (p.Phe8784Ser)
c.26207T>C (p.Phe8736Ser)
c.1694T>C
c.2069T>C
c.1936T>C
c.2201T>C (n.2201T>C)
c.25136T>C (p.Phe8379Ser)
n.3099T>C
c.5127T>C (n.5127T>C)
n.10043T>C
c.4230T>C (n.4230T>C)
n.9935T>C
c.851-2787A>G (n.851-2787A>G)
n.2965T>C
n.6988T>C
c.2816T>C (p.Phe939Ser)
c.26498T>C (p.Phe8833Ser)
c.26486T>C (p.Phe8829Ser)
c.26477T>C (p.Phe8826Ser)
c.26456T>C (p.Phe8819Ser)
c.26447T>C (p.Phe8816Ser)
c.26441T>C (p.Phe8814Ser)
c.26429T>C (p.Phe8810Ser)
c.26426T>C (p.Phe8809Ser)
c.26387T>C (p.Phe8796Ser)
c.26372T>C (p.Phe8791Ser)
c.26357T>C (p.Phe8786Ser)
c.26345T>C (p.Phe8782Ser)
c.26342T>C (p.Phe8781Ser)
c.26339T>C (p.Phe8780Ser)
c.*162T>C (n.*162T>C)
c.26495T>C (p.Phe8832Ser)
c.26483T>C (p.Phe8828Ser)
c.26333T>C (p.Phe8778Ser)
c.24773T>C (p.Phe8258Ser)
c.24266T>C (p.Phe8089Ser)
c.19733T>C (p.Phe6578Ser)
c.26471T>C (p.Phe8824Ser)
c.26420T>C (p.Phe8807Ser)
c.26384T>C (p.Phe8795Ser)
c.26231T>C (p.Phe8744Ser)
6g.152122479A>TCA366088555ESR1,SYNE1c.2885T>A (p.Phe962Tyr)
c.26351T>A (p.Phe8784Tyr)
c.26207T>A (p.Phe8736Tyr)
c.1694T>A
c.2069T>A
c.1936T>A
c.2201T>A (n.2201T>A)
c.25136T>A (p.Phe8379Tyr)
n.3099T>A
c.5127T>A (n.5127T>A)
n.10043T>A
c.4230T>A (n.4230T>A)
n.9935T>A
c.851-2787A>T (n.851-2787A>T)
n.2965T>A
n.6988T>A
c.2816T>A (p.Phe939Tyr)
c.26498T>A (p.Phe8833Tyr)
c.26486T>A (p.Phe8829Tyr)
c.26477T>A (p.Phe8826Tyr)
c.26456T>A (p.Phe8819Tyr)
c.26447T>A (p.Phe8816Tyr)
c.26441T>A (p.Phe8814Tyr)
c.26429T>A (p.Phe8810Tyr)
c.26426T>A (p.Phe8809Tyr)
c.26387T>A (p.Phe8796Tyr)
c.26372T>A (p.Phe8791Tyr)
c.26357T>A (p.Phe8786Tyr)
c.26345T>A (p.Phe8782Tyr)
c.26342T>A (p.Phe8781Tyr)
c.26339T>A (p.Phe8780Tyr)
c.*162T>A (n.*162T>A)
c.26495T>A (p.Phe8832Tyr)
c.26483T>A (p.Phe8828Tyr)
c.26333T>A (p.Phe8778Tyr)
c.24773T>A (p.Phe8258Tyr)
c.24266T>A (p.Phe8089Tyr)
c.19733T>A (p.Phe6578Tyr)
c.26471T>A (p.Phe8824Tyr)
c.26420T>A (p.Phe8807Tyr)
c.26384T>A (p.Phe8795Tyr)
c.26231T>A (p.Phe8744Tyr)
6g.152122480A>CCA366088556ESR1,SYNE1c.2884T>G (p.Phe962Val)
c.26350T>G (p.Phe8784Val)
c.26206T>G (p.Phe8736Val)
c.1693T>G
c.2068T>G
c.1935T>G
c.2200T>G (n.2200T>G)
c.25135T>G (p.Phe8379Val)
n.3098T>G
c.5126T>G (n.5126T>G)
n.10042T>G
c.4229T>G (n.4229T>G)
n.9934T>G
c.851-2786A>C (n.851-2786A>C)
n.2964T>G
n.6987T>G
c.2815T>G (p.Phe939Val)
c.26497T>G (p.Phe8833Val)
c.26485T>G (p.Phe8829Val)
c.26476T>G (p.Phe8826Val)
c.26455T>G (p.Phe8819Val)
c.26446T>G (p.Phe8816Val)
c.26440T>G (p.Phe8814Val)
c.26428T>G (p.Phe8810Val)
c.26425T>G (p.Phe8809Val)
c.26386T>G (p.Phe8796Val)
c.26371T>G (p.Phe8791Val)
c.26356T>G (p.Phe8786Val)
c.26344T>G (p.Phe8782Val)
c.26341T>G (p.Phe8781Val)
c.26338T>G (p.Phe8780Val)
c.*161T>G (n.*161T>G)
c.26494T>G (p.Phe8832Val)
c.26482T>G (p.Phe8828Val)
c.26332T>G (p.Phe8778Val)
c.24772T>G (p.Phe8258Val)
c.24265T>G (p.Phe8089Val)
c.19732T>G (p.Phe6578Val)
c.26470T>G (p.Phe8824Val)
c.26419T>G (p.Phe8807Val)
c.26383T>G (p.Phe8795Val)
c.26230T>G (p.Phe8744Val)
6g.152122480A>GCA366088558ESR1,SYNE1c.2884T>C (p.Phe962Leu)
c.26350T>C (p.Phe8784Leu)
c.26206T>C (p.Phe8736Leu)
c.1693T>C
c.2068T>C
c.1935T>C
c.2200T>C (n.2200T>C)
c.25135T>C (p.Phe8379Leu)
n.3098T>C
c.5126T>C (n.5126T>C)
n.10042T>C
c.4229T>C (n.4229T>C)
n.9934T>C
c.851-2786A>G (n.851-2786A>G)
n.2964T>C
n.6987T>C
c.2815T>C (p.Phe939Leu)
c.26497T>C (p.Phe8833Leu)
c.26485T>C (p.Phe8829Leu)
c.26476T>C (p.Phe8826Leu)
c.26455T>C (p.Phe8819Leu)
c.26446T>C (p.Phe8816Leu)
c.26440T>C (p.Phe8814Leu)
c.26428T>C (p.Phe8810Leu)
c.26425T>C (p.Phe8809Leu)
c.26386T>C (p.Phe8796Leu)
c.26371T>C (p.Phe8791Leu)
c.26356T>C (p.Phe8786Leu)
c.26344T>C (p.Phe8782Leu)
c.26341T>C (p.Phe8781Leu)
c.26338T>C (p.Phe8780Leu)
c.*161T>C (n.*161T>C)
c.26494T>C (p.Phe8832Leu)
c.26482T>C (p.Phe8828Leu)
c.26332T>C (p.Phe8778Leu)
c.24772T>C (p.Phe8258Leu)
c.24265T>C (p.Phe8089Leu)
c.19732T>C (p.Phe6578Leu)
c.26470T>C (p.Phe8824Leu)
c.26419T>C (p.Phe8807Leu)
c.26383T>C (p.Phe8795Leu)
c.26230T>C (p.Phe8744Leu)
6g.152122480A>TCA366088560ESR1,SYNE1c.2884T>A (p.Phe962Ile)
c.26350T>A (p.Phe8784Ile)
c.26206T>A (p.Phe8736Ile)
c.1693T>A
c.2068T>A
c.1935T>A
c.2200T>A (n.2200T>A)
c.25135T>A (p.Phe8379Ile)
n.3098T>A
c.5126T>A (n.5126T>A)
n.10042T>A
c.4229T>A (n.4229T>A)
n.9934T>A
c.851-2786A>T (n.851-2786A>T)
n.2964T>A
n.6987T>A
c.2815T>A (p.Phe939Ile)
c.26497T>A (p.Phe8833Ile)
c.26485T>A (p.Phe8829Ile)
c.26476T>A (p.Phe8826Ile)
c.26455T>A (p.Phe8819Ile)
c.26446T>A (p.Phe8816Ile)
c.26440T>A (p.Phe8814Ile)
c.26428T>A (p.Phe8810Ile)
c.26425T>A (p.Phe8809Ile)
c.26386T>A (p.Phe8796Ile)
c.26371T>A (p.Phe8791Ile)
c.26356T>A (p.Phe8786Ile)
c.26344T>A (p.Phe8782Ile)
c.26341T>A (p.Phe8781Ile)
c.26338T>A (p.Phe8780Ile)
c.*161T>A (n.*161T>A)
c.26494T>A (p.Phe8832Ile)
c.26482T>A (p.Phe8828Ile)
c.26332T>A (p.Phe8778Ile)
c.24772T>A (p.Phe8258Ile)
c.24265T>A (p.Phe8089Ile)
c.19732T>A (p.Phe6578Ile)
c.26470T>A (p.Phe8824Ile)
c.26419T>A (p.Phe8807Ile)
c.26383T>A (p.Phe8795Ile)
c.26230T>A (p.Phe8744Ile)
6g.152122481T>ACA452969522ESR1,SYNE1c.2883A>T (p.Ser961=)
c.26349A>T (p.Ser8783=)
c.26205A>T (p.Ser8735=)
c.1692A>T
c.2067A>T
c.1934A>T
c.2199A>T (n.2199A>T)
c.25134A>T (p.Ser8378=)
n.3097A>T
c.5125A>T (n.5125A>T)
n.10041A>T
c.4228A>T (n.4228A>T)
n.9933A>T
c.851-2785T>A (n.851-2785T>A)
n.2963A>T
n.6986A>T
c.2814A>T (p.Ser938=)
c.26496A>T (p.Ser8832=)
c.26484A>T (p.Ser8828=)
c.26475A>T (p.Ser8825=)
c.26454A>T (p.Ser8818=)
c.26445A>T (p.Ser8815=)
c.26439A>T (p.Ser8813=)
c.26427A>T (p.Ser8809=)
c.26424A>T (p.Ser8808=)
c.26385A>T (p.Ser8795=)
c.26370A>T (p.Ser8790=)
c.26355A>T (p.Ser8785=)
c.26343A>T (p.Ser8781=)
c.26340A>T (p.Ser8780=)
c.26337A>T (p.Ser8779=)
c.*160A>T (n.*160A>T)
c.26493A>T (p.Ser8831=)
c.26481A>T (p.Ser8827=)
c.26331A>T (p.Ser8777=)
c.24771A>T (p.Ser8257=)
c.24264A>T (p.Ser8088=)
c.19731A>T (p.Ser6577=)
c.26469A>T (p.Ser8823=)
c.26418A>T (p.Ser8806=)
c.26382A>T (p.Ser8794=)
c.26229A>T (p.Ser8743=)
6g.152122481T>CCA452969523ESR1,SYNE1c.2883A>G (p.Ser961=)
c.26349A>G (p.Ser8783=)
c.26205A>G (p.Ser8735=)
c.1692A>G
c.2067A>G
c.1934A>G
c.2199A>G (n.2199A>G)
c.25134A>G (p.Ser8378=)
n.3097A>G
c.5125A>G (n.5125A>G)
n.10041A>G
c.4228A>G (n.4228A>G)
n.9933A>G
c.851-2785T>C (n.851-2785T>C)
n.2963A>G
n.6986A>G
c.2814A>G (p.Ser938=)
c.26496A>G (p.Ser8832=)
c.26484A>G (p.Ser8828=)
c.26475A>G (p.Ser8825=)
c.26454A>G (p.Ser8818=)
c.26445A>G (p.Ser8815=)
c.26439A>G (p.Ser8813=)
c.26427A>G (p.Ser8809=)
c.26424A>G (p.Ser8808=)
c.26385A>G (p.Ser8795=)
c.26370A>G (p.Ser8790=)
c.26355A>G (p.Ser8785=)
c.26343A>G (p.Ser8781=)
c.26340A>G (p.Ser8780=)
c.26337A>G (p.Ser8779=)
c.*160A>G (n.*160A>G)
c.26493A>G (p.Ser8831=)
c.26481A>G (p.Ser8827=)
c.26331A>G (p.Ser8777=)
c.24771A>G (p.Ser8257=)
c.24264A>G (p.Ser8088=)
c.19731A>G (p.Ser6577=)
c.26469A>G (p.Ser8823=)
c.26418A>G (p.Ser8806=)
c.26382A>G (p.Ser8794=)
c.26229A>G (p.Ser8743=)
6g.152122481T>GCA452969524ESR1,SYNE1c.2883A>C (p.Ser961=)
c.26349A>C (p.Ser8783=)
c.26205A>C (p.Ser8735=)
c.1692A>C
c.2067A>C
c.1934A>C
c.2199A>C (n.2199A>C)
c.25134A>C (p.Ser8378=)
n.3097A>C
c.5125A>C (n.5125A>C)
n.10041A>C
c.4228A>C (n.4228A>C)
n.9933A>C
c.851-2785T>G (n.851-2785T>G)
n.2963A>C
n.6986A>C
c.2814A>C (p.Ser938=)
c.26496A>C (p.Ser8832=)
c.26484A>C (p.Ser8828=)
c.26475A>C (p.Ser8825=)
c.26454A>C (p.Ser8818=)
c.26445A>C (p.Ser8815=)
c.26439A>C (p.Ser8813=)
c.26427A>C (p.Ser8809=)
c.26424A>C (p.Ser8808=)
c.26385A>C (p.Ser8795=)
c.26370A>C (p.Ser8790=)
c.26355A>C (p.Ser8785=)
c.26343A>C (p.Ser8781=)
c.26340A>C (p.Ser8780=)
c.26337A>C (p.Ser8779=)
c.*160A>C (n.*160A>C)
c.26493A>C (p.Ser8831=)
c.26481A>C (p.Ser8827=)
c.26331A>C (p.Ser8777=)
c.24771A>C (p.Ser8257=)
c.24264A>C (p.Ser8088=)
c.19731A>C (p.Ser6577=)
c.26469A>C (p.Ser8823=)
c.26418A>C (p.Ser8806=)
c.26382A>C (p.Ser8794=)
c.26229A>C (p.Ser8743=)
6g.152122482G>ACA4052582ESR1,SYNE1c.2882C>T (p.Ser961Leu)
c.26348C>T (p.Ser8783Leu)
c.26204C>T (p.Ser8735Leu)
c.1691C>T
c.2066C>T
c.1933C>T
c.2198C>T (n.2198C>T)
c.25133C>T (p.Ser8378Leu)
n.3096C>T
c.5124C>T (n.5124C>T)
n.10040C>T
c.4227C>T (n.4227C>T)
n.9932C>T
c.851-2784G>A (n.851-2784G>A)
n.2962C>T
n.6985C>T
c.2813C>T (p.Ser938Leu)
c.26495C>T (p.Ser8832Leu)
c.26483C>T (p.Ser8828Leu)
c.26474C>T (p.Ser8825Leu)
c.26453C>T (p.Ser8818Leu)
c.26444C>T (p.Ser8815Leu)
c.26438C>T (p.Ser8813Leu)
c.26426C>T (p.Ser8809Leu)
c.26423C>T (p.Ser8808Leu)
c.26384C>T (p.Ser8795Leu)
c.26369C>T (p.Ser8790Leu)
c.26354C>T (p.Ser8785Leu)
c.26342C>T (p.Ser8781Leu)
c.26339C>T (p.Ser8780Leu)
c.26336C>T (p.Ser8779Leu)
c.*159C>T (n.*159C>T)
c.26492C>T (p.Ser8831Leu)
c.26480C>T (p.Ser8827Leu)
c.26330C>T (p.Ser8777Leu)
c.24770C>T (p.Ser8257Leu)
c.24263C>T (p.Ser8088Leu)
c.19730C>T (p.Ser6577Leu)
c.26468C>T (p.Ser8823Leu)
c.26417C>T (p.Ser8806Leu)
c.26381C>T (p.Ser8794Leu)
c.26228C>T (p.Ser8743Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122482G>CCA366088562ESR1,SYNE1c.2882C>G (p.Ser961Ter)
c.26348C>G (p.Ser8783Ter)
c.26204C>G (p.Ser8735Ter)
c.1691C>G
c.2066C>G
c.1933C>G
c.2198C>G (n.2198C>G)
c.25133C>G (p.Ser8378Ter)
n.3096C>G
c.5124C>G (n.5124C>G)
n.10040C>G
c.4227C>G (n.4227C>G)
n.9932C>G
c.851-2784G>C (n.851-2784G>C)
n.2962C>G
n.6985C>G
c.2813C>G (p.Ser938Ter)
c.26495C>G (p.Ser8832Ter)
c.26483C>G (p.Ser8828Ter)
c.26474C>G (p.Ser8825Ter)
c.26453C>G (p.Ser8818Ter)
c.26444C>G (p.Ser8815Ter)
c.26438C>G (p.Ser8813Ter)
c.26426C>G (p.Ser8809Ter)
c.26423C>G (p.Ser8808Ter)
c.26384C>G (p.Ser8795Ter)
c.26369C>G (p.Ser8790Ter)
c.26354C>G (p.Ser8785Ter)
c.26342C>G (p.Ser8781Ter)
c.26339C>G (p.Ser8780Ter)
c.26336C>G (p.Ser8779Ter)
c.*159C>G (n.*159C>G)
c.26492C>G (p.Ser8831Ter)
c.26480C>G (p.Ser8827Ter)
c.26330C>G (p.Ser8777Ter)
c.24770C>G (p.Ser8257Ter)
c.24263C>G (p.Ser8088Ter)
c.19730C>G (p.Ser6577Ter)
c.26468C>G (p.Ser8823Ter)
c.26417C>G (p.Ser8806Ter)
c.26381C>G (p.Ser8794Ter)
c.26228C>G (p.Ser8743Ter)
6g.152122482G=CA1673188811ESR1,SYNE1c.2882C= (p.Ser961=)
c.26348C= (p.Ser8783=)
c.26204C= (p.Ser8735=)
c.1691C=
c.2066C=
c.1933C=
c.2198C= (n.2198C=)
c.25133C= (p.Ser8378=)
n.3096C=
c.5124C= (n.5124C=)
n.10040C=
c.4227C= (n.4227C=)
n.9932C=
c.851-2784G= (n.851-2784G=)
n.2962C=
n.6985C=
c.2813C= (p.Ser938=)
c.26495C= (p.Ser8832=)
c.26483C= (p.Ser8828=)
c.26474C= (p.Ser8825=)
c.26453C= (p.Ser8818=)
c.26444C= (p.Ser8815=)
c.26438C= (p.Ser8813=)
c.26426C= (p.Ser8809=)
c.26423C= (p.Ser8808=)
c.26384C= (p.Ser8795=)
c.26369C= (p.Ser8790=)
c.26354C= (p.Ser8785=)
c.26342C= (p.Ser8781=)
c.26339C= (p.Ser8780=)
c.26336C= (p.Ser8779=)
c.*159C= (n.*159C=)
c.26492C= (p.Ser8831=)
c.26480C= (p.Ser8827=)
c.26330C= (p.Ser8777=)
c.24770C= (p.Ser8257=)
c.24263C= (p.Ser8088=)
c.19730C= (p.Ser6577=)
c.26468C= (p.Ser8823=)
c.26417C= (p.Ser8806=)
c.26381C= (p.Ser8794=)
c.26228C= (p.Ser8743=)
6g.152122482G>TCA366088563ESR1,SYNE1c.2882C>A (p.Ser961Ter)
c.26348C>A (p.Ser8783Ter)
c.26204C>A (p.Ser8735Ter)
c.1691C>A
c.2066C>A
c.1933C>A
c.2198C>A (n.2198C>A)
c.25133C>A (p.Ser8378Ter)
n.3096C>A
c.5124C>A (n.5124C>A)
n.10040C>A
c.4227C>A (n.4227C>A)
n.9932C>A
c.851-2784G>T (n.851-2784G>T)
n.2962C>A
n.6985C>A
c.2813C>A (p.Ser938Ter)
c.26495C>A (p.Ser8832Ter)
c.26483C>A (p.Ser8828Ter)
c.26474C>A (p.Ser8825Ter)
c.26453C>A (p.Ser8818Ter)
c.26444C>A (p.Ser8815Ter)
c.26438C>A (p.Ser8813Ter)
c.26426C>A (p.Ser8809Ter)
c.26423C>A (p.Ser8808Ter)
c.26384C>A (p.Ser8795Ter)
c.26369C>A (p.Ser8790Ter)
c.26354C>A (p.Ser8785Ter)
c.26342C>A (p.Ser8781Ter)
c.26339C>A (p.Ser8780Ter)
c.26336C>A (p.Ser8779Ter)
c.*159C>A (n.*159C>A)
c.26492C>A (p.Ser8831Ter)
c.26480C>A (p.Ser8827Ter)
c.26330C>A (p.Ser8777Ter)
c.24770C>A (p.Ser8257Ter)
c.24263C>A (p.Ser8088Ter)
c.19730C>A (p.Ser6577Ter)
c.26468C>A (p.Ser8823Ter)
c.26417C>A (p.Ser8806Ter)
c.26381C>A (p.Ser8794Ter)
c.26228C>A (p.Ser8743Ter)
6g.152122483A=CA1673188816ESR1,SYNE1c.2881T= (p.Ser961=)
c.26347T= (p.Ser8783=)
c.26203T= (p.Ser8735=)
c.1690T=
c.2065T=
c.1932T=
c.2197T= (n.2197T=)
c.25132T= (p.Ser8378=)
n.3095T=
c.5123T= (n.5123T=)
n.10039T=
c.4226T= (n.4226T=)
n.9931T=
c.851-2783A= (n.851-2783A=)
n.2961T=
n.6984T=
c.2812T= (p.Ser938=)
c.26494T= (p.Ser8832=)
c.26482T= (p.Ser8828=)
c.26473T= (p.Ser8825=)
c.26452T= (p.Ser8818=)
c.26443T= (p.Ser8815=)
c.26437T= (p.Ser8813=)
c.26425T= (p.Ser8809=)
c.26422T= (p.Ser8808=)
c.26383T= (p.Ser8795=)
c.26368T= (p.Ser8790=)
c.26353T= (p.Ser8785=)
c.26341T= (p.Ser8781=)
c.26338T= (p.Ser8780=)
c.26335T= (p.Ser8779=)
c.*158T= (n.*158T=)
c.26491T= (p.Ser8831=)
c.26479T= (p.Ser8827=)
c.26329T= (p.Ser8777=)
c.24769T= (p.Ser8257=)
c.24262T= (p.Ser8088=)
c.19729T= (p.Ser6577=)
c.26467T= (p.Ser8823=)
c.26416T= (p.Ser8806=)
c.26380T= (p.Ser8794=)
c.26227T= (p.Ser8743=)
6g.152122483A>CCA366088564ESR1,SYNE1c.2881T>G (p.Ser961Ala)
c.26347T>G (p.Ser8783Ala)
c.26203T>G (p.Ser8735Ala)
c.1690T>G
c.2065T>G
c.1932T>G
c.2197T>G (n.2197T>G)
c.25132T>G (p.Ser8378Ala)
n.3095T>G
c.5123T>G (n.5123T>G)
n.10039T>G
c.4226T>G (n.4226T>G)
n.9931T>G
c.851-2783A>C (n.851-2783A>C)
n.2961T>G
n.6984T>G
c.2812T>G (p.Ser938Ala)
c.26494T>G (p.Ser8832Ala)
c.26482T>G (p.Ser8828Ala)
c.26473T>G (p.Ser8825Ala)
c.26452T>G (p.Ser8818Ala)
c.26443T>G (p.Ser8815Ala)
c.26437T>G (p.Ser8813Ala)
c.26425T>G (p.Ser8809Ala)
c.26422T>G (p.Ser8808Ala)
c.26383T>G (p.Ser8795Ala)
c.26368T>G (p.Ser8790Ala)
c.26353T>G (p.Ser8785Ala)
c.26341T>G (p.Ser8781Ala)
c.26338T>G (p.Ser8780Ala)
c.26335T>G (p.Ser8779Ala)
c.*158T>G (n.*158T>G)
c.26491T>G (p.Ser8831Ala)
c.26479T>G (p.Ser8827Ala)
c.26329T>G (p.Ser8777Ala)
c.24769T>G (p.Ser8257Ala)
c.24262T>G (p.Ser8088Ala)
c.19729T>G (p.Ser6577Ala)
c.26467T>G (p.Ser8823Ala)
c.26416T>G (p.Ser8806Ala)
c.26380T>G (p.Ser8794Ala)
c.26227T>G (p.Ser8743Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.152122483A>GCA366088565ESR1,SYNE1c.2881T>C (p.Ser961Pro)
c.26347T>C (p.Ser8783Pro)
c.26203T>C (p.Ser8735Pro)
c.1690T>C
c.2065T>C
c.1932T>C
c.2197T>C (n.2197T>C)
c.25132T>C (p.Ser8378Pro)
n.3095T>C
c.5123T>C (n.5123T>C)
n.10039T>C
c.4226T>C (n.4226T>C)
n.9931T>C
c.851-2783A>G (n.851-2783A>G)
n.2961T>C
n.6984T>C
c.2812T>C (p.Ser938Pro)
c.26494T>C (p.Ser8832Pro)
c.26482T>C (p.Ser8828Pro)
c.26473T>C (p.Ser8825Pro)
c.26452T>C (p.Ser8818Pro)
c.26443T>C (p.Ser8815Pro)
c.26437T>C (p.Ser8813Pro)
c.26425T>C (p.Ser8809Pro)
c.26422T>C (p.Ser8808Pro)
c.26383T>C (p.Ser8795Pro)
c.26368T>C (p.Ser8790Pro)
c.26353T>C (p.Ser8785Pro)
c.26341T>C (p.Ser8781Pro)
c.26338T>C (p.Ser8780Pro)
c.26335T>C (p.Ser8779Pro)
c.*158T>C (n.*158T>C)
c.26491T>C (p.Ser8831Pro)
c.26479T>C (p.Ser8827Pro)
c.26329T>C (p.Ser8777Pro)
c.24769T>C (p.Ser8257Pro)
c.24262T>C (p.Ser8088Pro)
c.19729T>C (p.Ser6577Pro)
c.26467T>C (p.Ser8823Pro)
c.26416T>C (p.Ser8806Pro)
c.26380T>C (p.Ser8794Pro)
c.26227T>C (p.Ser8743Pro)
 gnomAD v3 gnomAD v4
6g.152122483A>TCA366088566ESR1,SYNE1c.2881T>A (p.Ser961Thr)
c.26347T>A (p.Ser8783Thr)
c.26203T>A (p.Ser8735Thr)
c.1690T>A
c.2065T>A
c.1932T>A
c.2197T>A (n.2197T>A)
c.25132T>A (p.Ser8378Thr)
n.3095T>A
c.5123T>A (n.5123T>A)
n.10039T>A
c.4226T>A (n.4226T>A)
n.9931T>A
c.851-2783A>T (n.851-2783A>T)
n.2961T>A
n.6984T>A
c.2812T>A (p.Ser938Thr)
c.26494T>A (p.Ser8832Thr)
c.26482T>A (p.Ser8828Thr)
c.26473T>A (p.Ser8825Thr)
c.26452T>A (p.Ser8818Thr)
c.26443T>A (p.Ser8815Thr)
c.26437T>A (p.Ser8813Thr)
c.26425T>A (p.Ser8809Thr)
c.26422T>A (p.Ser8808Thr)
c.26383T>A (p.Ser8795Thr)
c.26368T>A (p.Ser8790Thr)
c.26353T>A (p.Ser8785Thr)
c.26341T>A (p.Ser8781Thr)
c.26338T>A (p.Ser8780Thr)
c.26335T>A (p.Ser8779Thr)
c.*158T>A (n.*158T>A)
c.26491T>A (p.Ser8831Thr)
c.26479T>A (p.Ser8827Thr)
c.26329T>A (p.Ser8777Thr)
c.24769T>A (p.Ser8257Thr)
c.24262T>A (p.Ser8088Thr)
c.19729T>A (p.Ser6577Thr)
c.26467T>A (p.Ser8823Thr)
c.26416T>A (p.Ser8806Thr)
c.26380T>A (p.Ser8794Thr)
c.26227T>A (p.Ser8743Thr)
6g.152122484C>ACA452969529ESR1,SYNE1c.2880G>T (p.Arg960=)
c.26346G>T (p.Arg8782=)
c.26202G>T (p.Arg8734=)
c.1689G>T
c.2064G>T
c.1931G>T
c.2196G>T (n.2196G>T)
c.25131G>T (p.Arg8377=)
n.3094G>T
c.5122G>T (n.5122G>T)
n.10038G>T
c.4225G>T (n.4225G>T)
n.9930G>T
c.851-2782C>A (n.851-2782C>A)
n.2960G>T
n.6983G>T
c.2811G>T (p.Arg937=)
c.26493G>T (p.Arg8831=)
c.26481G>T (p.Arg8827=)
c.26472G>T (p.Arg8824=)
c.26451G>T (p.Arg8817=)
c.26442G>T (p.Arg8814=)
c.26436G>T (p.Arg8812=)
c.26424G>T (p.Arg8808=)
c.26421G>T (p.Arg8807=)
c.26382G>T (p.Arg8794=)
c.26367G>T (p.Arg8789=)
c.26352G>T (p.Arg8784=)
c.26340G>T (p.Arg8780=)
c.26337G>T (p.Arg8779=)
c.26334G>T (p.Arg8778=)
c.*157G>T (n.*157G>T)
c.26490G>T (p.Arg8830=)
c.26478G>T (p.Arg8826=)
c.26328G>T (p.Arg8776=)
c.24768G>T (p.Arg8256=)
c.24261G>T (p.Arg8087=)
c.19728G>T (p.Arg6576=)
c.26466G>T (p.Arg8822=)
c.26415G>T (p.Arg8805=)
c.26379G>T (p.Arg8793=)
c.26226G>T (p.Arg8742=)
6g.152122484C>GCA452969530ESR1,SYNE1c.2880G>C (p.Arg960=)
c.26346G>C (p.Arg8782=)
c.26202G>C (p.Arg8734=)
c.1689G>C
c.2064G>C
c.1931G>C
c.2196G>C (n.2196G>C)
c.25131G>C (p.Arg8377=)
n.3094G>C
c.5122G>C (n.5122G>C)
n.10038G>C
c.4225G>C (n.4225G>C)
n.9930G>C
c.851-2782C>G (n.851-2782C>G)
n.2960G>C
n.6983G>C
c.2811G>C (p.Arg937=)
c.26493G>C (p.Arg8831=)
c.26481G>C (p.Arg8827=)
c.26472G>C (p.Arg8824=)
c.26451G>C (p.Arg8817=)
c.26442G>C (p.Arg8814=)
c.26436G>C (p.Arg8812=)
c.26424G>C (p.Arg8808=)
c.26421G>C (p.Arg8807=)
c.26382G>C (p.Arg8794=)
c.26367G>C (p.Arg8789=)
c.26352G>C (p.Arg8784=)
c.26340G>C (p.Arg8780=)
c.26337G>C (p.Arg8779=)
c.26334G>C (p.Arg8778=)
c.*157G>C (n.*157G>C)
c.26490G>C (p.Arg8830=)
c.26478G>C (p.Arg8826=)
c.26328G>C (p.Arg8776=)
c.24768G>C (p.Arg8256=)
c.24261G>C (p.Arg8087=)
c.19728G>C (p.Arg6576=)
c.26466G>C (p.Arg8822=)
c.26415G>C (p.Arg8805=)
c.26379G>C (p.Arg8793=)
c.26226G>C (p.Arg8742=)
6g.152122484C>TCA452969533ESR1,SYNE1c.2880G>A (p.Arg960=)
c.26346G>A (p.Arg8782=)
c.26202G>A (p.Arg8734=)
c.1689G>A
c.2064G>A
c.1931G>A
c.2196G>A (n.2196G>A)
c.25131G>A (p.Arg8377=)
n.3094G>A
c.5122G>A (n.5122G>A)
n.10038G>A
c.4225G>A (n.4225G>A)
n.9930G>A
c.851-2782C>T (n.851-2782C>T)
n.2960G>A
n.6983G>A
c.2811G>A (p.Arg937=)
c.26493G>A (p.Arg8831=)
c.26481G>A (p.Arg8827=)
c.26472G>A (p.Arg8824=)
c.26451G>A (p.Arg8817=)
c.26442G>A (p.Arg8814=)
c.26436G>A (p.Arg8812=)
c.26424G>A (p.Arg8808=)
c.26421G>A (p.Arg8807=)
c.26382G>A (p.Arg8794=)
c.26367G>A (p.Arg8789=)
c.26352G>A (p.Arg8784=)
c.26340G>A (p.Arg8780=)
c.26337G>A (p.Arg8779=)
c.26334G>A (p.Arg8778=)
c.*157G>A (n.*157G>A)
c.26490G>A (p.Arg8830=)
c.26478G>A (p.Arg8826=)
c.26328G>A (p.Arg8776=)
c.24768G>A (p.Arg8256=)
c.24261G>A (p.Arg8087=)
c.19728G>A (p.Arg6576=)
c.26466G>A (p.Arg8822=)
c.26415G>A (p.Arg8805=)
c.26379G>A (p.Arg8793=)
c.26226G>A (p.Arg8742=)
6g.152122485C>ACA366088569ESR1,SYNE1c.2879G>T (p.Arg960Leu)
c.26345G>T (p.Arg8782Leu)
c.26201G>T (p.Arg8734Leu)
c.1688G>T
c.2063G>T
c.1930G>T
c.2195G>T (n.2195G>T)
c.25130G>T (p.Arg8377Leu)
n.3093G>T
c.5121G>T (n.5121G>T)
n.10037G>T
c.4224G>T (n.4224G>T)
n.9929G>T
c.851-2781C>A (n.851-2781C>A)
n.2959G>T
n.6982G>T
c.2810G>T (p.Arg937Leu)
c.26492G>T (p.Arg8831Leu)
c.26480G>T (p.Arg8827Leu)
c.26471G>T (p.Arg8824Leu)
c.26450G>T (p.Arg8817Leu)
c.26441G>T (p.Arg8814Leu)
c.26435G>T (p.Arg8812Leu)
c.26423G>T (p.Arg8808Leu)
c.26420G>T (p.Arg8807Leu)
c.26381G>T (p.Arg8794Leu)
c.26366G>T (p.Arg8789Leu)
c.26351G>T (p.Arg8784Leu)
c.26339G>T (p.Arg8780Leu)
c.26336G>T (p.Arg8779Leu)
c.26333G>T (p.Arg8778Leu)
c.*156G>T (n.*156G>T)
c.26489G>T (p.Arg8830Leu)
c.26477G>T (p.Arg8826Leu)
c.26327G>T (p.Arg8776Leu)
c.24767G>T (p.Arg8256Leu)
c.24260G>T (p.Arg8087Leu)
c.19727G>T (p.Arg6576Leu)
c.26465G>T (p.Arg8822Leu)
c.26414G>T (p.Arg8805Leu)
c.26378G>T (p.Arg8793Leu)
c.26225G>T (p.Arg8742Leu)
6g.152122485C=CA1673188826ESR1,SYNE1c.2879G= (p.Arg960=)
c.26345G= (p.Arg8782=)
c.26201G= (p.Arg8734=)
c.1688G=
c.2063G=
c.1930G=
c.2195G= (n.2195G=)
c.25130G= (p.Arg8377=)
n.3093G=
c.5121G= (n.5121G=)
n.10037G=
c.4224G= (n.4224G=)
n.9929G=
c.851-2781C= (n.851-2781C=)
n.2959G=
n.6982G=
c.2810G= (p.Arg937=)
c.26492G= (p.Arg8831=)
c.26480G= (p.Arg8827=)
c.26471G= (p.Arg8824=)
c.26450G= (p.Arg8817=)
c.26441G= (p.Arg8814=)
c.26435G= (p.Arg8812=)
c.26423G= (p.Arg8808=)
c.26420G= (p.Arg8807=)
c.26381G= (p.Arg8794=)
c.26366G= (p.Arg8789=)
c.26351G= (p.Arg8784=)
c.26339G= (p.Arg8780=)
c.26336G= (p.Arg8779=)
c.26333G= (p.Arg8778=)
c.*156G= (n.*156G=)
c.26489G= (p.Arg8830=)
c.26477G= (p.Arg8826=)
c.26327G= (p.Arg8776=)
c.24767G= (p.Arg8256=)
c.24260G= (p.Arg8087=)
c.19727G= (p.Arg6576=)
c.26465G= (p.Arg8822=)
c.26414G= (p.Arg8805=)
c.26378G= (p.Arg8793=)
c.26225G= (p.Arg8742=)
6g.152122485C>GCA366088571ESR1,SYNE1c.2879G>C (p.Arg960Pro)
c.26345G>C (p.Arg8782Pro)
c.26201G>C (p.Arg8734Pro)
c.1688G>C
c.2063G>C
c.1930G>C
c.2195G>C (n.2195G>C)
c.25130G>C (p.Arg8377Pro)
n.3093G>C
c.5121G>C (n.5121G>C)
n.10037G>C
c.4224G>C (n.4224G>C)
n.9929G>C
c.851-2781C>G (n.851-2781C>G)
n.2959G>C
n.6982G>C
c.2810G>C (p.Arg937Pro)
c.26492G>C (p.Arg8831Pro)
c.26480G>C (p.Arg8827Pro)
c.26471G>C (p.Arg8824Pro)
c.26450G>C (p.Arg8817Pro)
c.26441G>C (p.Arg8814Pro)
c.26435G>C (p.Arg8812Pro)
c.26423G>C (p.Arg8808Pro)
c.26420G>C (p.Arg8807Pro)
c.26381G>C (p.Arg8794Pro)
c.26366G>C (p.Arg8789Pro)
c.26351G>C (p.Arg8784Pro)
c.26339G>C (p.Arg8780Pro)
c.26336G>C (p.Arg8779Pro)
c.26333G>C (p.Arg8778Pro)
c.*156G>C (n.*156G>C)
c.26489G>C (p.Arg8830Pro)
c.26477G>C (p.Arg8826Pro)
c.26327G>C (p.Arg8776Pro)
c.24767G>C (p.Arg8256Pro)
c.24260G>C (p.Arg8087Pro)
c.19727G>C (p.Arg6576Pro)
c.26465G>C (p.Arg8822Pro)
c.26414G>C (p.Arg8805Pro)
c.26378G>C (p.Arg8793Pro)
c.26225G>C (p.Arg8742Pro)
6g.152122485C>TCA4052583ESR1,SYNE1c.2879G>A (p.Arg960Gln)
c.26345G>A (p.Arg8782Gln)
c.26201G>A (p.Arg8734Gln)
c.1688G>A
c.2063G>A
c.1930G>A
c.2195G>A (n.2195G>A)
c.25130G>A (p.Arg8377Gln)
n.3093G>A
c.5121G>A (n.5121G>A)
n.10037G>A
c.4224G>A (n.4224G>A)
n.9929G>A
c.851-2781C>T (n.851-2781C>T)
n.2959G>A
n.6982G>A
c.2810G>A (p.Arg937Gln)
c.26492G>A (p.Arg8831Gln)
c.26480G>A (p.Arg8827Gln)
c.26471G>A (p.Arg8824Gln)
c.26450G>A (p.Arg8817Gln)
c.26441G>A (p.Arg8814Gln)
c.26435G>A (p.Arg8812Gln)
c.26423G>A (p.Arg8808Gln)
c.26420G>A (p.Arg8807Gln)
c.26381G>A (p.Arg8794Gln)
c.26366G>A (p.Arg8789Gln)
c.26351G>A (p.Arg8784Gln)
c.26339G>A (p.Arg8780Gln)
c.26336G>A (p.Arg8779Gln)
c.26333G>A (p.Arg8778Gln)
c.*156G>A (n.*156G>A)
c.26489G>A (p.Arg8830Gln)
c.26477G>A (p.Arg8826Gln)
c.26327G>A (p.Arg8776Gln)
c.24767G>A (p.Arg8256Gln)
c.24260G>A (p.Arg8087Gln)
c.19727G>A (p.Arg6576Gln)
c.26465G>A (p.Arg8822Gln)
c.26414G>A (p.Arg8805Gln)
c.26378G>A (p.Arg8793Gln)
c.26225G>A (p.Arg8742Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122486G>ACA366088573ESR1,SYNE1c.2878C>T (p.Arg960Trp)
c.26344C>T (p.Arg8782Trp)
c.26200C>T (p.Arg8734Trp)
c.1687C>T
c.2062C>T
c.1929C>T
c.2194C>T (n.2194C>T)
c.25129C>T (p.Arg8377Trp)
n.3092C>T
c.5120C>T (n.5120C>T)
n.10036C>T
c.4223C>T (n.4223C>T)
n.9928C>T
c.851-2780G>A (n.851-2780G>A)
n.2958C>T
n.6981C>T
c.2809C>T (p.Arg937Trp)
c.26491C>T (p.Arg8831Trp)
c.26479C>T (p.Arg8827Trp)
c.26470C>T (p.Arg8824Trp)
c.26449C>T (p.Arg8817Trp)
c.26440C>T (p.Arg8814Trp)
c.26434C>T (p.Arg8812Trp)
c.26422C>T (p.Arg8808Trp)
c.26419C>T (p.Arg8807Trp)
c.26380C>T (p.Arg8794Trp)
c.26365C>T (p.Arg8789Trp)
c.26350C>T (p.Arg8784Trp)
c.26338C>T (p.Arg8780Trp)
c.26335C>T (p.Arg8779Trp)
c.26332C>T (p.Arg8778Trp)
c.*155C>T (n.*155C>T)
c.26488C>T (p.Arg8830Trp)
c.26476C>T (p.Arg8826Trp)
c.26326C>T (p.Arg8776Trp)
c.24766C>T (p.Arg8256Trp)
c.24259C>T (p.Arg8087Trp)
c.19726C>T (p.Arg6576Trp)
c.26464C>T (p.Arg8822Trp)
c.26413C>T (p.Arg8805Trp)
c.26377C>T (p.Arg8793Trp)
c.26224C>T (p.Arg8742Trp)
 dbSNP gnomAD v2 gnomAD v4
6g.152122486G>CCA150189479ESR1,SYNE1c.2878C>G (p.Arg960Gly)
c.26344C>G (p.Arg8782Gly)
c.26200C>G (p.Arg8734Gly)
c.1687C>G
c.2062C>G
c.1929C>G
c.2194C>G (n.2194C>G)
c.25129C>G (p.Arg8377Gly)
n.3092C>G
c.5120C>G (n.5120C>G)
n.10036C>G
c.4223C>G (n.4223C>G)
n.9928C>G
c.851-2780G>C (n.851-2780G>C)
n.2958C>G
n.6981C>G
c.2809C>G (p.Arg937Gly)
c.26491C>G (p.Arg8831Gly)
c.26479C>G (p.Arg8827Gly)
c.26470C>G (p.Arg8824Gly)
c.26449C>G (p.Arg8817Gly)
c.26440C>G (p.Arg8814Gly)
c.26434C>G (p.Arg8812Gly)
c.26422C>G (p.Arg8808Gly)
c.26419C>G (p.Arg8807Gly)
c.26380C>G (p.Arg8794Gly)
c.26365C>G (p.Arg8789Gly)
c.26350C>G (p.Arg8784Gly)
c.26338C>G (p.Arg8780Gly)
c.26335C>G (p.Arg8779Gly)
c.26332C>G (p.Arg8778Gly)
c.*155C>G (n.*155C>G)
c.26488C>G (p.Arg8830Gly)
c.26476C>G (p.Arg8826Gly)
c.26326C>G (p.Arg8776Gly)
c.24766C>G (p.Arg8256Gly)
c.24259C>G (p.Arg8087Gly)
c.19726C>G (p.Arg6576Gly)
c.26464C>G (p.Arg8822Gly)
c.26413C>G (p.Arg8805Gly)
c.26377C>G (p.Arg8793Gly)
c.26224C>G (p.Arg8742Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122486G=CA1673188835ESR1,SYNE1c.2878C= (p.Arg960=)
c.26344C= (p.Arg8782=)
c.26200C= (p.Arg8734=)
c.1687C=
c.2062C=
c.1929C=
c.2194C= (n.2194C=)
c.25129C= (p.Arg8377=)
n.3092C=
c.5120C= (n.5120C=)
n.10036C=
c.4223C= (n.4223C=)
n.9928C=
c.851-2780G= (n.851-2780G=)
n.2958C=
n.6981C=
c.2809C= (p.Arg937=)
c.26491C= (p.Arg8831=)
c.26479C= (p.Arg8827=)
c.26470C= (p.Arg8824=)
c.26449C= (p.Arg8817=)
c.26440C= (p.Arg8814=)
c.26434C= (p.Arg8812=)
c.26422C= (p.Arg8808=)
c.26419C= (p.Arg8807=)
c.26380C= (p.Arg8794=)
c.26365C= (p.Arg8789=)
c.26350C= (p.Arg8784=)
c.26338C= (p.Arg8780=)
c.26335C= (p.Arg8779=)
c.26332C= (p.Arg8778=)
c.*155C= (n.*155C=)
c.26488C= (p.Arg8830=)
c.26476C= (p.Arg8826=)
c.26326C= (p.Arg8776=)
c.24766C= (p.Arg8256=)
c.24259C= (p.Arg8087=)
c.19726C= (p.Arg6576=)
c.26464C= (p.Arg8822=)
c.26413C= (p.Arg8805=)
c.26377C= (p.Arg8793=)
c.26224C= (p.Arg8742=)
6g.152122486G>TCA452969540ESR1,SYNE1c.2878C>A (p.Arg960=)
c.26344C>A (p.Arg8782=)
c.26200C>A (p.Arg8734=)
c.1687C>A
c.2062C>A
c.1929C>A
c.2194C>A (n.2194C>A)
c.25129C>A (p.Arg8377=)
n.3092C>A
c.5120C>A (n.5120C>A)
n.10036C>A
c.4223C>A (n.4223C>A)
n.9928C>A
c.851-2780G>T (n.851-2780G>T)
n.2958C>A
n.6981C>A
c.2809C>A (p.Arg937=)
c.26491C>A (p.Arg8831=)
c.26479C>A (p.Arg8827=)
c.26470C>A (p.Arg8824=)
c.26449C>A (p.Arg8817=)
c.26440C>A (p.Arg8814=)
c.26434C>A (p.Arg8812=)
c.26422C>A (p.Arg8808=)
c.26419C>A (p.Arg8807=)
c.26380C>A (p.Arg8794=)
c.26365C>A (p.Arg8789=)
c.26350C>A (p.Arg8784=)
c.26338C>A (p.Arg8780=)
c.26335C>A (p.Arg8779=)
c.26332C>A (p.Arg8778=)
c.*155C>A (n.*155C>A)
c.26488C>A (p.Arg8830=)
c.26476C>A (p.Arg8826=)
c.26326C>A (p.Arg8776=)
c.24766C>A (p.Arg8256=)
c.24259C>A (p.Arg8087=)
c.19726C>A (p.Arg6576=)
c.26464C>A (p.Arg8822=)
c.26413C>A (p.Arg8805=)
c.26377C>A (p.Arg8793=)
c.26224C>A (p.Arg8742=)
6g.152122487G>ACA452969542ESR1,SYNE1c.2877C>T (p.Ala959=)
c.26343C>T (p.Ala8781=)
c.26199C>T (p.Ala8733=)
c.1686C>T
c.2061C>T
c.1928C>T
c.2193C>T (n.2193C>T)
c.25128C>T (p.Ala8376=)
n.3091C>T
c.5119C>T (n.5119C>T)
n.10035C>T
c.4222C>T (n.4222C>T)
n.9927C>T
c.851-2779G>A (n.851-2779G>A)
n.2957C>T
n.6980C>T
c.2808C>T (p.Ala936=)
c.26490C>T (p.Ala8830=)
c.26478C>T (p.Ala8826=)
c.26469C>T (p.Ala8823=)
c.26448C>T (p.Ala8816=)
c.26439C>T (p.Ala8813=)
c.26433C>T (p.Ala8811=)
c.26421C>T (p.Ala8807=)
c.26418C>T (p.Ala8806=)
c.26379C>T (p.Ala8793=)
c.26364C>T (p.Ala8788=)
c.26349C>T (p.Ala8783=)
c.26337C>T (p.Ala8779=)
c.26334C>T (p.Ala8778=)
c.26331C>T (p.Ala8777=)
c.*154C>T (n.*154C>T)
c.26487C>T (p.Ala8829=)
c.26475C>T (p.Ala8825=)
c.26325C>T (p.Ala8775=)
c.24765C>T (p.Ala8255=)
c.24258C>T (p.Ala8086=)
c.19725C>T (p.Ala6575=)
c.26463C>T (p.Ala8821=)
c.26412C>T (p.Ala8804=)
c.26376C>T (p.Ala8792=)
c.26223C>T (p.Ala8741=)
 gnomAD v4
6g.152122487G>CCA452969543ESR1,SYNE1c.2877C>G (p.Ala959=)
c.26343C>G (p.Ala8781=)
c.26199C>G (p.Ala8733=)
c.1686C>G
c.2061C>G
c.1928C>G
c.2193C>G (n.2193C>G)
c.25128C>G (p.Ala8376=)
n.3091C>G
c.5119C>G (n.5119C>G)
n.10035C>G
c.4222C>G (n.4222C>G)
n.9927C>G
c.851-2779G>C (n.851-2779G>C)
n.2957C>G
n.6980C>G
c.2808C>G (p.Ala936=)
c.26490C>G (p.Ala8830=)
c.26478C>G (p.Ala8826=)
c.26469C>G (p.Ala8823=)
c.26448C>G (p.Ala8816=)
c.26439C>G (p.Ala8813=)
c.26433C>G (p.Ala8811=)
c.26421C>G (p.Ala8807=)
c.26418C>G (p.Ala8806=)
c.26379C>G (p.Ala8793=)
c.26364C>G (p.Ala8788=)
c.26349C>G (p.Ala8783=)
c.26337C>G (p.Ala8779=)
c.26334C>G (p.Ala8778=)
c.26331C>G (p.Ala8777=)
c.*154C>G (n.*154C>G)
c.26487C>G (p.Ala8829=)
c.26475C>G (p.Ala8825=)
c.26325C>G (p.Ala8775=)
c.24765C>G (p.Ala8255=)
c.24258C>G (p.Ala8086=)
c.19725C>G (p.Ala6575=)
c.26463C>G (p.Ala8821=)
c.26412C>G (p.Ala8804=)
c.26376C>G (p.Ala8792=)
c.26223C>G (p.Ala8741=)
 dbSNP gnomAD v2 gnomAD v4
6g.152122487G=CA1673188841ESR1,SYNE1c.2877C= (p.Ala959=)
c.26343C= (p.Ala8781=)
c.26199C= (p.Ala8733=)
c.1686C=
c.2061C=
c.1928C=
c.2193C= (n.2193C=)
c.25128C= (p.Ala8376=)
n.3091C=
c.5119C= (n.5119C=)
n.10035C=
c.4222C= (n.4222C=)
n.9927C=
c.851-2779G= (n.851-2779G=)
n.2957C=
n.6980C=
c.2808C= (p.Ala936=)
c.26490C= (p.Ala8830=)
c.26478C= (p.Ala8826=)
c.26469C= (p.Ala8823=)
c.26448C= (p.Ala8816=)
c.26439C= (p.Ala8813=)
c.26433C= (p.Ala8811=)
c.26421C= (p.Ala8807=)
c.26418C= (p.Ala8806=)
c.26379C= (p.Ala8793=)
c.26364C= (p.Ala8788=)
c.26349C= (p.Ala8783=)
c.26337C= (p.Ala8779=)
c.26334C= (p.Ala8778=)
c.26331C= (p.Ala8777=)
c.*154C= (n.*154C=)
c.26487C= (p.Ala8829=)
c.26475C= (p.Ala8825=)
c.26325C= (p.Ala8775=)
c.24765C= (p.Ala8255=)
c.24258C= (p.Ala8086=)
c.19725C= (p.Ala6575=)
c.26463C= (p.Ala8821=)
c.26412C= (p.Ala8804=)
c.26376C= (p.Ala8792=)
c.26223C= (p.Ala8741=)
6g.152122487G>TCA452969544ESR1,SYNE1c.2877C>A (p.Ala959=)
c.26343C>A (p.Ala8781=)
c.26199C>A (p.Ala8733=)
c.1686C>A
c.2061C>A
c.1928C>A
c.2193C>A (n.2193C>A)
c.25128C>A (p.Ala8376=)
n.3091C>A
c.5119C>A (n.5119C>A)
n.10035C>A
c.4222C>A (n.4222C>A)
n.9927C>A
c.851-2779G>T (n.851-2779G>T)
n.2957C>A
n.6980C>A
c.2808C>A (p.Ala936=)
c.26490C>A (p.Ala8830=)
c.26478C>A (p.Ala8826=)
c.26469C>A (p.Ala8823=)
c.26448C>A (p.Ala8816=)
c.26439C>A (p.Ala8813=)
c.26433C>A (p.Ala8811=)
c.26421C>A (p.Ala8807=)
c.26418C>A (p.Ala8806=)
c.26379C>A (p.Ala8793=)
c.26364C>A (p.Ala8788=)
c.26349C>A (p.Ala8783=)
c.26337C>A (p.Ala8779=)
c.26334C>A (p.Ala8778=)
c.26331C>A (p.Ala8777=)
c.*154C>A (n.*154C>A)
c.26487C>A (p.Ala8829=)
c.26475C>A (p.Ala8825=)
c.26325C>A (p.Ala8775=)
c.24765C>A (p.Ala8255=)
c.24258C>A (p.Ala8086=)
c.19725C>A (p.Ala6575=)
c.26463C>A (p.Ala8821=)
c.26412C>A (p.Ala8804=)
c.26376C>A (p.Ala8792=)
c.26223C>A (p.Ala8741=)
6g.152122488G>ACA366088577ESR1,SYNE1c.2876C>T (p.Ala959Val)
c.26342C>T (p.Ala8781Val)
c.26198C>T (p.Ala8733Val)
c.1685C>T
c.2060C>T
c.1927C>T
c.2192C>T (n.2192C>T)
c.25127C>T (p.Ala8376Val)
n.3090C>T
c.5118C>T (n.5118C>T)
n.10034C>T
c.4221C>T (n.4221C>T)
n.9926C>T
c.851-2778G>A (n.851-2778G>A)
n.2956C>T
n.6979C>T
c.2807C>T (p.Ala936Val)
c.26489C>T (p.Ala8830Val)
c.26477C>T (p.Ala8826Val)
c.26468C>T (p.Ala8823Val)
c.26447C>T (p.Ala8816Val)
c.26438C>T (p.Ala8813Val)
c.26432C>T (p.Ala8811Val)
c.26420C>T (p.Ala8807Val)
c.26417C>T (p.Ala8806Val)
c.26378C>T (p.Ala8793Val)
c.26363C>T (p.Ala8788Val)
c.26348C>T (p.Ala8783Val)
c.26336C>T (p.Ala8779Val)
c.26333C>T (p.Ala8778Val)
c.26330C>T (p.Ala8777Val)
c.*153C>T (n.*153C>T)
c.26486C>T (p.Ala8829Val)
c.26474C>T (p.Ala8825Val)
c.26324C>T (p.Ala8775Val)
c.24764C>T (p.Ala8255Val)
c.24257C>T (p.Ala8086Val)
c.19724C>T (p.Ala6575Val)
c.26462C>T (p.Ala8821Val)
c.26411C>T (p.Ala8804Val)
c.26375C>T (p.Ala8792Val)
c.26222C>T (p.Ala8741Val)
6g.152122488G>CCA366088578ESR1,SYNE1c.2876C>G (p.Ala959Gly)
c.26342C>G (p.Ala8781Gly)
c.26198C>G (p.Ala8733Gly)
c.1685C>G
c.2060C>G
c.1927C>G
c.2192C>G (n.2192C>G)
c.25127C>G (p.Ala8376Gly)
n.3090C>G
c.5118C>G (n.5118C>G)
n.10034C>G
c.4221C>G (n.4221C>G)
n.9926C>G
c.851-2778G>C (n.851-2778G>C)
n.2956C>G
n.6979C>G
c.2807C>G (p.Ala936Gly)
c.26489C>G (p.Ala8830Gly)
c.26477C>G (p.Ala8826Gly)
c.26468C>G (p.Ala8823Gly)
c.26447C>G (p.Ala8816Gly)
c.26438C>G (p.Ala8813Gly)
c.26432C>G (p.Ala8811Gly)
c.26420C>G (p.Ala8807Gly)
c.26417C>G (p.Ala8806Gly)
c.26378C>G (p.Ala8793Gly)
c.26363C>G (p.Ala8788Gly)
c.26348C>G (p.Ala8783Gly)
c.26336C>G (p.Ala8779Gly)
c.26333C>G (p.Ala8778Gly)
c.26330C>G (p.Ala8777Gly)
c.*153C>G (n.*153C>G)
c.26486C>G (p.Ala8829Gly)
c.26474C>G (p.Ala8825Gly)
c.26324C>G (p.Ala8775Gly)
c.24764C>G (p.Ala8255Gly)
c.24257C>G (p.Ala8086Gly)
c.19724C>G (p.Ala6575Gly)
c.26462C>G (p.Ala8821Gly)
c.26411C>G (p.Ala8804Gly)
c.26375C>G (p.Ala8792Gly)
c.26222C>G (p.Ala8741Gly)
6g.152122488G>TCA366088580ESR1,SYNE1c.2876C>A (p.Ala959Asp)
c.26342C>A (p.Ala8781Asp)
c.26198C>A (p.Ala8733Asp)
c.1685C>A
c.2060C>A
c.1927C>A
c.2192C>A (n.2192C>A)
c.25127C>A (p.Ala8376Asp)
n.3090C>A
c.5118C>A (n.5118C>A)
n.10034C>A
c.4221C>A (n.4221C>A)
n.9926C>A
c.851-2778G>T (n.851-2778G>T)
n.2956C>A
n.6979C>A
c.2807C>A (p.Ala936Asp)
c.26489C>A (p.Ala8830Asp)
c.26477C>A (p.Ala8826Asp)
c.26468C>A (p.Ala8823Asp)
c.26447C>A (p.Ala8816Asp)
c.26438C>A (p.Ala8813Asp)
c.26432C>A (p.Ala8811Asp)
c.26420C>A (p.Ala8807Asp)
c.26417C>A (p.Ala8806Asp)
c.26378C>A (p.Ala8793Asp)
c.26363C>A (p.Ala8788Asp)
c.26348C>A (p.Ala8783Asp)
c.26336C>A (p.Ala8779Asp)
c.26333C>A (p.Ala8778Asp)
c.26330C>A (p.Ala8777Asp)
c.*153C>A (n.*153C>A)
c.26486C>A (p.Ala8829Asp)
c.26474C>A (p.Ala8825Asp)
c.26324C>A (p.Ala8775Asp)
c.24764C>A (p.Ala8255Asp)
c.24257C>A (p.Ala8086Asp)
c.19724C>A (p.Ala6575Asp)
c.26462C>A (p.Ala8821Asp)
c.26411C>A (p.Ala8804Asp)
c.26375C>A (p.Ala8792Asp)
c.26222C>A (p.Ala8741Asp)
6g.152122489C>ACA366088582ESR1,SYNE1c.2875G>T (p.Ala959Ser)
c.26341G>T (p.Ala8781Ser)
c.26197G>T (p.Ala8733Ser)
c.1684G>T
c.2059G>T
c.1926G>T
c.2191G>T (n.2191G>T)
c.25126G>T (p.Ala8376Ser)
n.3089G>T
c.5117G>T (n.5117G>T)
n.10033G>T
c.4220G>T (n.4220G>T)
n.9925G>T
c.851-2777C>A (n.851-2777C>A)
n.2955G>T
n.6978G>T
c.2806G>T (p.Ala936Ser)
c.26488G>T (p.Ala8830Ser)
c.26476G>T (p.Ala8826Ser)
c.26467G>T (p.Ala8823Ser)
c.26446G>T (p.Ala8816Ser)
c.26437G>T (p.Ala8813Ser)
c.26431G>T (p.Ala8811Ser)
c.26419G>T (p.Ala8807Ser)
c.26416G>T (p.Ala8806Ser)
c.26377G>T (p.Ala8793Ser)
c.26362G>T (p.Ala8788Ser)
c.26347G>T (p.Ala8783Ser)
c.26335G>T (p.Ala8779Ser)
c.26332G>T (p.Ala8778Ser)
c.26329G>T (p.Ala8777Ser)
c.*152G>T (n.*152G>T)
c.26485G>T (p.Ala8829Ser)
c.26473G>T (p.Ala8825Ser)
c.26323G>T (p.Ala8775Ser)
c.24763G>T (p.Ala8255Ser)
c.24256G>T (p.Ala8086Ser)
c.19723G>T (p.Ala6575Ser)
c.26461G>T (p.Ala8821Ser)
c.26410G>T (p.Ala8804Ser)
c.26374G>T (p.Ala8792Ser)
c.26221G>T (p.Ala8741Ser)
 dbSNP
6g.152122489C=CA1673188847ESR1,SYNE1c.2875G= (p.Ala959=)
c.26341G= (p.Ala8781=)
c.26197G= (p.Ala8733=)
c.1684G=
c.2059G=
c.1926G=
c.2191G= (n.2191G=)
c.25126G= (p.Ala8376=)
n.3089G=
c.5117G= (n.5117G=)
n.10033G=
c.4220G= (n.4220G=)
n.9925G=
c.851-2777C= (n.851-2777C=)
n.2955G=
n.6978G=
c.2806G= (p.Ala936=)
c.26488G= (p.Ala8830=)
c.26476G= (p.Ala8826=)
c.26467G= (p.Ala8823=)
c.26446G= (p.Ala8816=)
c.26437G= (p.Ala8813=)
c.26431G= (p.Ala8811=)
c.26419G= (p.Ala8807=)
c.26416G= (p.Ala8806=)
c.26377G= (p.Ala8793=)
c.26362G= (p.Ala8788=)
c.26347G= (p.Ala8783=)
c.26335G= (p.Ala8779=)
c.26332G= (p.Ala8778=)
c.26329G= (p.Ala8777=)
c.*152G= (n.*152G=)
c.26485G= (p.Ala8829=)
c.26473G= (p.Ala8825=)
c.26323G= (p.Ala8775=)
c.24763G= (p.Ala8255=)
c.24256G= (p.Ala8086=)
c.19723G= (p.Ala6575=)
c.26461G= (p.Ala8821=)
c.26410G= (p.Ala8804=)
c.26374G= (p.Ala8792=)
c.26221G= (p.Ala8741=)
6g.152122489C>GCA366088584ESR1,SYNE1c.2875G>C (p.Ala959Pro)
c.26341G>C (p.Ala8781Pro)
c.26197G>C (p.Ala8733Pro)
c.1684G>C
c.2059G>C
c.1926G>C
c.2191G>C (n.2191G>C)
c.25126G>C (p.Ala8376Pro)
n.3089G>C
c.5117G>C (n.5117G>C)
n.10033G>C
c.4220G>C (n.4220G>C)
n.9925G>C
c.851-2777C>G (n.851-2777C>G)
n.2955G>C
n.6978G>C
c.2806G>C (p.Ala936Pro)
c.26488G>C (p.Ala8830Pro)
c.26476G>C (p.Ala8826Pro)
c.26467G>C (p.Ala8823Pro)
c.26446G>C (p.Ala8816Pro)
c.26437G>C (p.Ala8813Pro)
c.26431G>C (p.Ala8811Pro)
c.26419G>C (p.Ala8807Pro)
c.26416G>C (p.Ala8806Pro)
c.26377G>C (p.Ala8793Pro)
c.26362G>C (p.Ala8788Pro)
c.26347G>C (p.Ala8783Pro)
c.26335G>C (p.Ala8779Pro)
c.26332G>C (p.Ala8778Pro)
c.26329G>C (p.Ala8777Pro)
c.*152G>C (n.*152G>C)
c.26485G>C (p.Ala8829Pro)
c.26473G>C (p.Ala8825Pro)
c.26323G>C (p.Ala8775Pro)
c.24763G>C (p.Ala8255Pro)
c.24256G>C (p.Ala8086Pro)
c.19723G>C (p.Ala6575Pro)
c.26461G>C (p.Ala8821Pro)
c.26410G>C (p.Ala8804Pro)
c.26374G>C (p.Ala8792Pro)
c.26221G>C (p.Ala8741Pro)
6g.152122489C>TCA366088586ESR1,SYNE1c.2875G>A (p.Ala959Thr)
c.26341G>A (p.Ala8781Thr)
c.26197G>A (p.Ala8733Thr)
c.1684G>A
c.2059G>A
c.1926G>A
c.2191G>A (n.2191G>A)
c.25126G>A (p.Ala8376Thr)
n.3089G>A
c.5117G>A (n.5117G>A)
n.10033G>A
c.4220G>A (n.4220G>A)
n.9925G>A
c.851-2777C>T (n.851-2777C>T)
n.2955G>A
n.6978G>A
c.2806G>A (p.Ala936Thr)
c.26488G>A (p.Ala8830Thr)
c.26476G>A (p.Ala8826Thr)
c.26467G>A (p.Ala8823Thr)
c.26446G>A (p.Ala8816Thr)
c.26437G>A (p.Ala8813Thr)
c.26431G>A (p.Ala8811Thr)
c.26419G>A (p.Ala8807Thr)
c.26416G>A (p.Ala8806Thr)
c.26377G>A (p.Ala8793Thr)
c.26362G>A (p.Ala8788Thr)
c.26347G>A (p.Ala8783Thr)
c.26335G>A (p.Ala8779Thr)
c.26332G>A (p.Ala8778Thr)
c.26329G>A (p.Ala8777Thr)
c.*152G>A (n.*152G>A)
c.26485G>A (p.Ala8829Thr)
c.26473G>A (p.Ala8825Thr)
c.26323G>A (p.Ala8775Thr)
c.24763G>A (p.Ala8255Thr)
c.24256G>A (p.Ala8086Thr)
c.19723G>A (p.Ala6575Thr)
c.26461G>A (p.Ala8821Thr)
c.26410G>A (p.Ala8804Thr)
c.26374G>A (p.Ala8792Thr)
c.26221G>A (p.Ala8741Thr)
 dbSNP
6g.152122490A=CA1673188852ESR1,SYNE1c.2874T= (p.Phe958=)
c.26340T= (p.Phe8780=)
c.26196T= (p.Phe8732=)
c.1683T=
c.2058T=
c.1925T=
c.2190T= (n.2190T=)
c.25125T= (p.Phe8375=)
n.3088T=
c.5116T= (n.5116T=)
n.10032T=
c.4219T= (n.4219T=)
n.9924T=
c.851-2776A= (n.851-2776A=)
n.2954T=
n.6977T=
c.2805T= (p.Phe935=)
c.26487T= (p.Phe8829=)
c.26475T= (p.Phe8825=)
c.26466T= (p.Phe8822=)
c.26445T= (p.Phe8815=)
c.26436T= (p.Phe8812=)
c.26430T= (p.Phe8810=)
c.26418T= (p.Phe8806=)
c.26415T= (p.Phe8805=)
c.26376T= (p.Phe8792=)
c.26361T= (p.Phe8787=)
c.26346T= (p.Phe8782=)
c.26334T= (p.Phe8778=)
c.26331T= (p.Phe8777=)
c.26328T= (p.Phe8776=)
c.*151T= (n.*151T=)
c.26484T= (p.Phe8828=)
c.26472T= (p.Phe8824=)
c.26322T= (p.Phe8774=)
c.24762T= (p.Phe8254=)
c.24255T= (p.Phe8085=)
c.19722T= (p.Phe6574=)
c.26460T= (p.Phe8820=)
c.26409T= (p.Phe8803=)
c.26373T= (p.Phe8791=)
c.26220T= (p.Phe8740=)
6g.152122490A>CCA366088588ESR1,SYNE1c.2874T>G (p.Phe958Leu)
c.26340T>G (p.Phe8780Leu)
c.26196T>G (p.Phe8732Leu)
c.1683T>G
c.2058T>G
c.1925T>G
c.2190T>G (n.2190T>G)
c.25125T>G (p.Phe8375Leu)
n.3088T>G
c.5116T>G (n.5116T>G)
n.10032T>G
c.4219T>G (n.4219T>G)
n.9924T>G
c.851-2776A>C (n.851-2776A>C)
n.2954T>G
n.6977T>G
c.2805T>G (p.Phe935Leu)
c.26487T>G (p.Phe8829Leu)
c.26475T>G (p.Phe8825Leu)
c.26466T>G (p.Phe8822Leu)
c.26445T>G (p.Phe8815Leu)
c.26436T>G (p.Phe8812Leu)
c.26430T>G (p.Phe8810Leu)
c.26418T>G (p.Phe8806Leu)
c.26415T>G (p.Phe8805Leu)
c.26376T>G (p.Phe8792Leu)
c.26361T>G (p.Phe8787Leu)
c.26346T>G (p.Phe8782Leu)
c.26334T>G (p.Phe8778Leu)
c.26331T>G (p.Phe8777Leu)
c.26328T>G (p.Phe8776Leu)
c.*151T>G (n.*151T>G)
c.26484T>G (p.Phe8828Leu)
c.26472T>G (p.Phe8824Leu)
c.26322T>G (p.Phe8774Leu)
c.24762T>G (p.Phe8254Leu)
c.24255T>G (p.Phe8085Leu)
c.19722T>G (p.Phe6574Leu)
c.26460T>G (p.Phe8820Leu)
c.26409T>G (p.Phe8803Leu)
c.26373T>G (p.Phe8791Leu)
c.26220T>G (p.Phe8740Leu)
6g.152122490A>GCA452969549ESR1,SYNE1c.2874T>C (p.Phe958=)
c.26340T>C (p.Phe8780=)
c.26196T>C (p.Phe8732=)
c.1683T>C
c.2058T>C
c.1925T>C
c.2190T>C (n.2190T>C)
c.25125T>C (p.Phe8375=)
n.3088T>C
c.5116T>C (n.5116T>C)
n.10032T>C
c.4219T>C (n.4219T>C)
n.9924T>C
c.851-2776A>G (n.851-2776A>G)
n.2954T>C
n.6977T>C
c.2805T>C (p.Phe935=)
c.26487T>C (p.Phe8829=)
c.26475T>C (p.Phe8825=)
c.26466T>C (p.Phe8822=)
c.26445T>C (p.Phe8815=)
c.26436T>C (p.Phe8812=)
c.26430T>C (p.Phe8810=)
c.26418T>C (p.Phe8806=)
c.26415T>C (p.Phe8805=)
c.26376T>C (p.Phe8792=)
c.26361T>C (p.Phe8787=)
c.26346T>C (p.Phe8782=)
c.26334T>C (p.Phe8778=)
c.26331T>C (p.Phe8777=)
c.26328T>C (p.Phe8776=)
c.*151T>C (n.*151T>C)
c.26484T>C (p.Phe8828=)
c.26472T>C (p.Phe8824=)
c.26322T>C (p.Phe8774=)
c.24762T>C (p.Phe8254=)
c.24255T>C (p.Phe8085=)
c.19722T>C (p.Phe6574=)
c.26460T>C (p.Phe8820=)
c.26409T>C (p.Phe8803=)
c.26373T>C (p.Phe8791=)
c.26220T>C (p.Phe8740=)
 dbSNP
6g.152122490A>TCA366088590ESR1,SYNE1c.2874T>A (p.Phe958Leu)
c.26340T>A (p.Phe8780Leu)
c.26196T>A (p.Phe8732Leu)
c.1683T>A
c.2058T>A
c.1925T>A
c.2190T>A (n.2190T>A)
c.25125T>A (p.Phe8375Leu)
n.3088T>A
c.5116T>A (n.5116T>A)
n.10032T>A
c.4219T>A (n.4219T>A)
n.9924T>A
c.851-2776A>T (n.851-2776A>T)
n.2954T>A
n.6977T>A
c.2805T>A (p.Phe935Leu)
c.26487T>A (p.Phe8829Leu)
c.26475T>A (p.Phe8825Leu)
c.26466T>A (p.Phe8822Leu)
c.26445T>A (p.Phe8815Leu)
c.26436T>A (p.Phe8812Leu)
c.26430T>A (p.Phe8810Leu)
c.26418T>A (p.Phe8806Leu)
c.26415T>A (p.Phe8805Leu)
c.26376T>A (p.Phe8792Leu)
c.26361T>A (p.Phe8787Leu)
c.26346T>A (p.Phe8782Leu)
c.26334T>A (p.Phe8778Leu)
c.26331T>A (p.Phe8777Leu)
c.26328T>A (p.Phe8776Leu)
c.*151T>A (n.*151T>A)
c.26484T>A (p.Phe8828Leu)
c.26472T>A (p.Phe8824Leu)
c.26322T>A (p.Phe8774Leu)
c.24762T>A (p.Phe8254Leu)
c.24255T>A (p.Phe8085Leu)
c.19722T>A (p.Phe6574Leu)
c.26460T>A (p.Phe8820Leu)
c.26409T>A (p.Phe8803Leu)
c.26373T>A (p.Phe8791Leu)
c.26220T>A (p.Phe8740Leu)
6g.152122491A>CCA366088592ESR1,SYNE1c.2873T>G (p.Phe958Cys)
c.26339T>G (p.Phe8780Cys)
c.26195T>G (p.Phe8732Cys)
c.1682T>G
c.2057T>G
c.1924T>G
c.2189T>G (n.2189T>G)
c.25124T>G (p.Phe8375Cys)
n.3087T>G
c.5115T>G (n.5115T>G)
n.10031T>G
c.4218T>G (n.4218T>G)
n.9923T>G
c.851-2775A>C (n.851-2775A>C)
n.2953T>G
n.6976T>G
c.2804T>G (p.Phe935Cys)
c.26486T>G (p.Phe8829Cys)
c.26474T>G (p.Phe8825Cys)
c.26465T>G (p.Phe8822Cys)
c.26444T>G (p.Phe8815Cys)
c.26435T>G (p.Phe8812Cys)
c.26429T>G (p.Phe8810Cys)
c.26417T>G (p.Phe8806Cys)
c.26414T>G (p.Phe8805Cys)
c.26375T>G (p.Phe8792Cys)
c.26360T>G (p.Phe8787Cys)
c.26345T>G (p.Phe8782Cys)
c.26333T>G (p.Phe8778Cys)
c.26330T>G (p.Phe8777Cys)
c.26327T>G (p.Phe8776Cys)
c.*150T>G (n.*150T>G)
c.26483T>G (p.Phe8828Cys)
c.26471T>G (p.Phe8824Cys)
c.26321T>G (p.Phe8774Cys)
c.24761T>G (p.Phe8254Cys)
c.24254T>G (p.Phe8085Cys)
c.19721T>G (p.Phe6574Cys)
c.26459T>G (p.Phe8820Cys)
c.26408T>G (p.Phe8803Cys)
c.26372T>G (p.Phe8791Cys)
c.26219T>G (p.Phe8740Cys)
6g.152122491A>GCA366088594ESR1,SYNE1c.2873T>C (p.Phe958Ser)
c.26339T>C (p.Phe8780Ser)
c.26195T>C (p.Phe8732Ser)
c.1682T>C
c.2057T>C
c.1924T>C
c.2189T>C (n.2189T>C)
c.25124T>C (p.Phe8375Ser)
n.3087T>C
c.5115T>C (n.5115T>C)
n.10031T>C
c.4218T>C (n.4218T>C)
n.9923T>C
c.851-2775A>G (n.851-2775A>G)
n.2953T>C
n.6976T>C
c.2804T>C (p.Phe935Ser)
c.26486T>C (p.Phe8829Ser)
c.26474T>C (p.Phe8825Ser)
c.26465T>C (p.Phe8822Ser)
c.26444T>C (p.Phe8815Ser)
c.26435T>C (p.Phe8812Ser)
c.26429T>C (p.Phe8810Ser)
c.26417T>C (p.Phe8806Ser)
c.26414T>C (p.Phe8805Ser)
c.26375T>C (p.Phe8792Ser)
c.26360T>C (p.Phe8787Ser)
c.26345T>C (p.Phe8782Ser)
c.26333T>C (p.Phe8778Ser)
c.26330T>C (p.Phe8777Ser)
c.26327T>C (p.Phe8776Ser)
c.*150T>C (n.*150T>C)
c.26483T>C (p.Phe8828Ser)
c.26471T>C (p.Phe8824Ser)
c.26321T>C (p.Phe8774Ser)
c.24761T>C (p.Phe8254Ser)
c.24254T>C (p.Phe8085Ser)
c.19721T>C (p.Phe6574Ser)
c.26459T>C (p.Phe8820Ser)
c.26408T>C (p.Phe8803Ser)
c.26372T>C (p.Phe8791Ser)
c.26219T>C (p.Phe8740Ser)
6g.152122491A>TCA366088595ESR1,SYNE1c.2873T>A (p.Phe958Tyr)
c.26339T>A (p.Phe8780Tyr)
c.26195T>A (p.Phe8732Tyr)
c.1682T>A
c.2057T>A
c.1924T>A
c.2189T>A (n.2189T>A)
c.25124T>A (p.Phe8375Tyr)
n.3087T>A
c.5115T>A (n.5115T>A)
n.10031T>A
c.4218T>A (n.4218T>A)
n.9923T>A
c.851-2775A>T (n.851-2775A>T)
n.2953T>A
n.6976T>A
c.2804T>A (p.Phe935Tyr)
c.26486T>A (p.Phe8829Tyr)
c.26474T>A (p.Phe8825Tyr)
c.26465T>A (p.Phe8822Tyr)
c.26444T>A (p.Phe8815Tyr)
c.26435T>A (p.Phe8812Tyr)
c.26429T>A (p.Phe8810Tyr)
c.26417T>A (p.Phe8806Tyr)
c.26414T>A (p.Phe8805Tyr)
c.26375T>A (p.Phe8792Tyr)
c.26360T>A (p.Phe8787Tyr)
c.26345T>A (p.Phe8782Tyr)
c.26333T>A (p.Phe8778Tyr)
c.26330T>A (p.Phe8777Tyr)
c.26327T>A (p.Phe8776Tyr)
c.*150T>A (n.*150T>A)
c.26483T>A (p.Phe8828Tyr)
c.26471T>A (p.Phe8824Tyr)
c.26321T>A (p.Phe8774Tyr)
c.24761T>A (p.Phe8254Tyr)
c.24254T>A (p.Phe8085Tyr)
c.19721T>A (p.Phe6574Tyr)
c.26459T>A (p.Phe8820Tyr)
c.26408T>A (p.Phe8803Tyr)
c.26372T>A (p.Phe8791Tyr)
c.26219T>A (p.Phe8740Tyr)
6g.152122492A>CCA366088608ESR1,SYNE1c.2872T>G (p.Phe958Val)
c.26338T>G (p.Phe8780Val)
c.26194T>G (p.Phe8732Val)
c.1681T>G
c.2056T>G
c.1923T>G
c.2188T>G (n.2188T>G)
c.25123T>G (p.Phe8375Val)
n.3086T>G
c.5114T>G (n.5114T>G)
n.10030T>G
c.4217T>G (n.4217T>G)
n.9922T>G
c.851-2774A>C (n.851-2774A>C)
n.2952T>G
n.6975T>G
c.2803T>G (p.Phe935Val)
c.26485T>G (p.Phe8829Val)
c.26473T>G (p.Phe8825Val)
c.26464T>G (p.Phe8822Val)
c.26443T>G (p.Phe8815Val)
c.26434T>G (p.Phe8812Val)
c.26428T>G (p.Phe8810Val)
c.26416T>G (p.Phe8806Val)
c.26413T>G (p.Phe8805Val)
c.26374T>G (p.Phe8792Val)
c.26359T>G (p.Phe8787Val)
c.26344T>G (p.Phe8782Val)
c.26332T>G (p.Phe8778Val)
c.26329T>G (p.Phe8777Val)
c.26326T>G (p.Phe8776Val)
c.*149T>G (n.*149T>G)
c.26482T>G (p.Phe8828Val)
c.26470T>G (p.Phe8824Val)
c.26320T>G (p.Phe8774Val)
c.24760T>G (p.Phe8254Val)
c.24253T>G (p.Phe8085Val)
c.19720T>G (p.Phe6574Val)
c.26458T>G (p.Phe8820Val)
c.26407T>G (p.Phe8803Val)
c.26371T>G (p.Phe8791Val)
c.26218T>G (p.Phe8740Val)
6g.152122492A>GCA366088606ESR1,SYNE1c.2872T>C (p.Phe958Leu)
c.26338T>C (p.Phe8780Leu)
c.26194T>C (p.Phe8732Leu)
c.1681T>C
c.2056T>C
c.1923T>C
c.2188T>C (n.2188T>C)
c.25123T>C (p.Phe8375Leu)
n.3086T>C
c.5114T>C (n.5114T>C)
n.10030T>C
c.4217T>C (n.4217T>C)
n.9922T>C
c.851-2774A>G (n.851-2774A>G)
n.2952T>C
n.6975T>C
c.2803T>C (p.Phe935Leu)
c.26485T>C (p.Phe8829Leu)
c.26473T>C (p.Phe8825Leu)
c.26464T>C (p.Phe8822Leu)
c.26443T>C (p.Phe8815Leu)
c.26434T>C (p.Phe8812Leu)
c.26428T>C (p.Phe8810Leu)
c.26416T>C (p.Phe8806Leu)
c.26413T>C (p.Phe8805Leu)
c.26374T>C (p.Phe8792Leu)
c.26359T>C (p.Phe8787Leu)
c.26344T>C (p.Phe8782Leu)
c.26332T>C (p.Phe8778Leu)
c.26329T>C (p.Phe8777Leu)
c.26326T>C (p.Phe8776Leu)
c.*149T>C (n.*149T>C)
c.26482T>C (p.Phe8828Leu)
c.26470T>C (p.Phe8824Leu)
c.26320T>C (p.Phe8774Leu)
c.24760T>C (p.Phe8254Leu)
c.24253T>C (p.Phe8085Leu)
c.19720T>C (p.Phe6574Leu)
c.26458T>C (p.Phe8820Leu)
c.26407T>C (p.Phe8803Leu)
c.26371T>C (p.Phe8791Leu)
c.26218T>C (p.Phe8740Leu)
6g.152122492A>TCA366088600ESR1,SYNE1c.2872T>A (p.Phe958Ile)
c.26338T>A (p.Phe8780Ile)
c.26194T>A (p.Phe8732Ile)
c.1681T>A
c.2056T>A
c.1923T>A
c.2188T>A (n.2188T>A)
c.25123T>A (p.Phe8375Ile)
n.3086T>A
c.5114T>A (n.5114T>A)
n.10030T>A
c.4217T>A (n.4217T>A)
n.9922T>A
c.851-2774A>T (n.851-2774A>T)
n.2952T>A
n.6975T>A
c.2803T>A (p.Phe935Ile)
c.26485T>A (p.Phe8829Ile)
c.26473T>A (p.Phe8825Ile)
c.26464T>A (p.Phe8822Ile)
c.26443T>A (p.Phe8815Ile)
c.26434T>A (p.Phe8812Ile)
c.26428T>A (p.Phe8810Ile)
c.26416T>A (p.Phe8806Ile)
c.26413T>A (p.Phe8805Ile)
c.26374T>A (p.Phe8792Ile)
c.26359T>A (p.Phe8787Ile)
c.26344T>A (p.Phe8782Ile)
c.26332T>A (p.Phe8778Ile)
c.26329T>A (p.Phe8777Ile)
c.26326T>A (p.Phe8776Ile)
c.*149T>A (n.*149T>A)
c.26482T>A (p.Phe8828Ile)
c.26470T>A (p.Phe8824Ile)
c.26320T>A (p.Phe8774Ile)
c.24760T>A (p.Phe8254Ile)
c.24253T>A (p.Phe8085Ile)
c.19720T>A (p.Phe6574Ile)
c.26458T>A (p.Phe8820Ile)
c.26407T>A (p.Phe8803Ile)
c.26371T>A (p.Phe8791Ile)
c.26218T>A (p.Phe8740Ile)
6g.152122493G>ACA452969554ESR1,SYNE1c.2871C>T (p.Asn957=)
c.26337C>T (p.Asn8779=)
c.26193C>T (p.Asn8731=)
c.1680C>T
c.2055C>T
c.1922C>T
c.2187C>T (n.2187C>T)
c.25122C>T (p.Asn8374=)
n.3085C>T
c.5113C>T (n.5113C>T)
n.10029C>T
c.4216C>T (n.4216C>T)
n.9921C>T
c.851-2773G>A (n.851-2773G>A)
n.2951C>T
n.6974C>T
c.2802C>T (p.Asn934=)
c.26484C>T (p.Asn8828=)
c.26472C>T (p.Asn8824=)
c.26463C>T (p.Asn8821=)
c.26442C>T (p.Asn8814=)
c.26433C>T (p.Asn8811=)
c.26427C>T (p.Asn8809=)
c.26415C>T (p.Asn8805=)
c.26412C>T (p.Asn8804=)
c.26373C>T (p.Asn8791=)
c.26358C>T (p.Asn8786=)
c.26343C>T (p.Asn8781=)
c.26331C>T (p.Asn8777=)
c.26328C>T (p.Asn8776=)
c.26325C>T (p.Asn8775=)
c.*148C>T (n.*148C>T)
c.26481C>T (p.Asn8827=)
c.26469C>T (p.Asn8823=)
c.26319C>T (p.Asn8773=)
c.24759C>T (p.Asn8253=)
c.24252C>T (p.Asn8084=)
c.19719C>T (p.Asn6573=)
c.26457C>T (p.Asn8819=)
c.26406C>T (p.Asn8802=)
c.26370C>T (p.Asn8790=)
c.26217C>T (p.Asn8739=)
 dbSNP gnomAD v3 gnomAD v4
6g.152122493G>CCA366088610ESR1,SYNE1c.2871C>G (p.Asn957Lys)
c.26337C>G (p.Asn8779Lys)
c.26193C>G (p.Asn8731Lys)
c.1680C>G
c.2055C>G
c.1922C>G
c.2187C>G (n.2187C>G)
c.25122C>G (p.Asn8374Lys)
n.3085C>G
c.5113C>G (n.5113C>G)
n.10029C>G
c.4216C>G (n.4216C>G)
n.9921C>G
c.851-2773G>C (n.851-2773G>C)
n.2951C>G
n.6974C>G
c.2802C>G (p.Asn934Lys)
c.26484C>G (p.Asn8828Lys)
c.26472C>G (p.Asn8824Lys)
c.26463C>G (p.Asn8821Lys)
c.26442C>G (p.Asn8814Lys)
c.26433C>G (p.Asn8811Lys)
c.26427C>G (p.Asn8809Lys)
c.26415C>G (p.Asn8805Lys)
c.26412C>G (p.Asn8804Lys)
c.26373C>G (p.Asn8791Lys)
c.26358C>G (p.Asn8786Lys)
c.26343C>G (p.Asn8781Lys)
c.26331C>G (p.Asn8777Lys)
c.26328C>G (p.Asn8776Lys)
c.26325C>G (p.Asn8775Lys)
c.*148C>G (n.*148C>G)
c.26481C>G (p.Asn8827Lys)
c.26469C>G (p.Asn8823Lys)
c.26319C>G (p.Asn8773Lys)
c.24759C>G (p.Asn8253Lys)
c.24252C>G (p.Asn8084Lys)
c.19719C>G (p.Asn6573Lys)
c.26457C>G (p.Asn8819Lys)
c.26406C>G (p.Asn8802Lys)
c.26370C>G (p.Asn8790Lys)
c.26217C>G (p.Asn8739Lys)
6g.152122493G=CA1673188858ESR1,SYNE1c.2871C= (p.Asn957=)
c.26337C= (p.Asn8779=)
c.26193C= (p.Asn8731=)
c.1680C=
c.2055C=
c.1922C=
c.2187C= (n.2187C=)
c.25122C= (p.Asn8374=)
n.3085C=
c.5113C= (n.5113C=)
n.10029C=
c.4216C= (n.4216C=)
n.9921C=
c.851-2773G= (n.851-2773G=)
n.2951C=
n.6974C=
c.2802C= (p.Asn934=)
c.26484C= (p.Asn8828=)
c.26472C= (p.Asn8824=)
c.26463C= (p.Asn8821=)
c.26442C= (p.Asn8814=)
c.26433C= (p.Asn8811=)
c.26427C= (p.Asn8809=)
c.26415C= (p.Asn8805=)
c.26412C= (p.Asn8804=)
c.26373C= (p.Asn8791=)
c.26358C= (p.Asn8786=)
c.26343C= (p.Asn8781=)
c.26331C= (p.Asn8777=)
c.26328C= (p.Asn8776=)
c.26325C= (p.Asn8775=)
c.*148C= (n.*148C=)
c.26481C= (p.Asn8827=)
c.26469C= (p.Asn8823=)
c.26319C= (p.Asn8773=)
c.24759C= (p.Asn8253=)
c.24252C= (p.Asn8084=)
c.19719C= (p.Asn6573=)
c.26457C= (p.Asn8819=)
c.26406C= (p.Asn8802=)
c.26370C= (p.Asn8790=)
c.26217C= (p.Asn8739=)
6g.152122493G>TCA4052584ESR1,SYNE1c.2871C>A (p.Asn957Lys)
c.26337C>A (p.Asn8779Lys)
c.26193C>A (p.Asn8731Lys)
c.1680C>A
c.2055C>A
c.1922C>A
c.2187C>A (n.2187C>A)
c.25122C>A (p.Asn8374Lys)
n.3085C>A
c.5113C>A (n.5113C>A)
n.10029C>A
c.4216C>A (n.4216C>A)
n.9921C>A
c.851-2773G>T (n.851-2773G>T)
n.2951C>A
n.6974C>A
c.2802C>A (p.Asn934Lys)
c.26484C>A (p.Asn8828Lys)
c.26472C>A (p.Asn8824Lys)
c.26463C>A (p.Asn8821Lys)
c.26442C>A (p.Asn8814Lys)
c.26433C>A (p.Asn8811Lys)
c.26427C>A (p.Asn8809Lys)
c.26415C>A (p.Asn8805Lys)
c.26412C>A (p.Asn8804Lys)
c.26373C>A (p.Asn8791Lys)
c.26358C>A (p.Asn8786Lys)
c.26343C>A (p.Asn8781Lys)
c.26331C>A (p.Asn8777Lys)
c.26328C>A (p.Asn8776Lys)
c.26325C>A (p.Asn8775Lys)
c.*148C>A (n.*148C>A)
c.26481C>A (p.Asn8827Lys)
c.26469C>A (p.Asn8823Lys)
c.26319C>A (p.Asn8773Lys)
c.24759C>A (p.Asn8253Lys)
c.24252C>A (p.Asn8084Lys)
c.19719C>A (p.Asn6573Lys)
c.26457C>A (p.Asn8819Lys)
c.26406C>A (p.Asn8802Lys)
c.26370C>A (p.Asn8790Lys)
c.26217C>A (p.Asn8739Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122494T>ACA366088615ESR1,SYNE1c.2870A>T (p.Asn957Ile)
c.26336A>T (p.Asn8779Ile)
c.26192A>T (p.Asn8731Ile)
c.1679A>T
c.2054A>T
c.1921A>T
c.2186A>T (n.2186A>T)
c.25121A>T (p.Asn8374Ile)
n.3084A>T
c.5112A>T (n.5112A>T)
n.10028A>T
c.4215A>T (n.4215A>T)
n.9920A>T
c.851-2772T>A (n.851-2772T>A)
n.2950A>T
n.6973A>T
c.2801A>T (p.Asn934Ile)
c.26483A>T (p.Asn8828Ile)
c.26471A>T (p.Asn8824Ile)
c.26462A>T (p.Asn8821Ile)
c.26441A>T (p.Asn8814Ile)
c.26432A>T (p.Asn8811Ile)
c.26426A>T (p.Asn8809Ile)
c.26414A>T (p.Asn8805Ile)
c.26411A>T (p.Asn8804Ile)
c.26372A>T (p.Asn8791Ile)
c.26357A>T (p.Asn8786Ile)
c.26342A>T (p.Asn8781Ile)
c.26330A>T (p.Asn8777Ile)
c.26327A>T (p.Asn8776Ile)
c.26324A>T (p.Asn8775Ile)
c.*147A>T (n.*147A>T)
c.26480A>T (p.Asn8827Ile)
c.26468A>T (p.Asn8823Ile)
c.26318A>T (p.Asn8773Ile)
c.24758A>T (p.Asn8253Ile)
c.24251A>T (p.Asn8084Ile)
c.19718A>T (p.Asn6573Ile)
c.26456A>T (p.Asn8819Ile)
c.26405A>T (p.Asn8802Ile)
c.26369A>T (p.Asn8790Ile)
c.26216A>T (p.Asn8739Ile)
6g.152122494T>CCA366088616ESR1,SYNE1c.2870A>G (p.Asn957Ser)
c.26336A>G (p.Asn8779Ser)
c.26192A>G (p.Asn8731Ser)
c.1679A>G
c.2054A>G
c.1921A>G
c.2186A>G (n.2186A>G)
c.25121A>G (p.Asn8374Ser)
n.3084A>G
c.5112A>G (n.5112A>G)
n.10028A>G
c.4215A>G (n.4215A>G)
n.9920A>G
c.851-2772T>C (n.851-2772T>C)
n.2950A>G
n.6973A>G
c.2801A>G (p.Asn934Ser)
c.26483A>G (p.Asn8828Ser)
c.26471A>G (p.Asn8824Ser)
c.26462A>G (p.Asn8821Ser)
c.26441A>G (p.Asn8814Ser)
c.26432A>G (p.Asn8811Ser)
c.26426A>G (p.Asn8809Ser)
c.26414A>G (p.Asn8805Ser)
c.26411A>G (p.Asn8804Ser)
c.26372A>G (p.Asn8791Ser)
c.26357A>G (p.Asn8786Ser)
c.26342A>G (p.Asn8781Ser)
c.26330A>G (p.Asn8777Ser)
c.26327A>G (p.Asn8776Ser)
c.26324A>G (p.Asn8775Ser)
c.*147A>G (n.*147A>G)
c.26480A>G (p.Asn8827Ser)
c.26468A>G (p.Asn8823Ser)
c.26318A>G (p.Asn8773Ser)
c.24758A>G (p.Asn8253Ser)
c.24251A>G (p.Asn8084Ser)
c.19718A>G (p.Asn6573Ser)
c.26456A>G (p.Asn8819Ser)
c.26405A>G (p.Asn8802Ser)
c.26369A>G (p.Asn8790Ser)
c.26216A>G (p.Asn8739Ser)
 dbSNP gnomAD v4
6g.152122494T>GCA366088617ESR1,SYNE1c.2870A>C (p.Asn957Thr)
c.26336A>C (p.Asn8779Thr)
c.26192A>C (p.Asn8731Thr)
c.1679A>C
c.2054A>C
c.1921A>C
c.2186A>C (n.2186A>C)
c.25121A>C (p.Asn8374Thr)
n.3084A>C
c.5112A>C (n.5112A>C)
n.10028A>C
c.4215A>C (n.4215A>C)
n.9920A>C
c.851-2772T>G (n.851-2772T>G)
n.2950A>C
n.6973A>C
c.2801A>C (p.Asn934Thr)
c.26483A>C (p.Asn8828Thr)
c.26471A>C (p.Asn8824Thr)
c.26462A>C (p.Asn8821Thr)
c.26441A>C (p.Asn8814Thr)
c.26432A>C (p.Asn8811Thr)
c.26426A>C (p.Asn8809Thr)
c.26414A>C (p.Asn8805Thr)
c.26411A>C (p.Asn8804Thr)
c.26372A>C (p.Asn8791Thr)
c.26357A>C (p.Asn8786Thr)
c.26342A>C (p.Asn8781Thr)
c.26330A>C (p.Asn8777Thr)
c.26327A>C (p.Asn8776Thr)
c.26324A>C (p.Asn8775Thr)
c.*147A>C (n.*147A>C)
c.26480A>C (p.Asn8827Thr)
c.26468A>C (p.Asn8823Thr)
c.26318A>C (p.Asn8773Thr)
c.24758A>C (p.Asn8253Thr)
c.24251A>C (p.Asn8084Thr)
c.19718A>C (p.Asn6573Thr)
c.26456A>C (p.Asn8819Thr)
c.26405A>C (p.Asn8802Thr)
c.26369A>C (p.Asn8790Thr)
c.26216A>C (p.Asn8739Thr)
6g.152122494T=CA1673188863ESR1,SYNE1c.2870A= (p.Asn957=)
c.26336A= (p.Asn8779=)
c.26192A= (p.Asn8731=)
c.1679A=
c.2054A=
c.1921A=
c.2186A= (n.2186A=)
c.25121A= (p.Asn8374=)
n.3084A=
c.5112A= (n.5112A=)
n.10028A=
c.4215A= (n.4215A=)
n.9920A=
c.851-2772T= (n.851-2772T=)
n.2950A=
n.6973A=
c.2801A= (p.Asn934=)
c.26483A= (p.Asn8828=)
c.26471A= (p.Asn8824=)
c.26462A= (p.Asn8821=)
c.26441A= (p.Asn8814=)
c.26432A= (p.Asn8811=)
c.26426A= (p.Asn8809=)
c.26414A= (p.Asn8805=)
c.26411A= (p.Asn8804=)
c.26372A= (p.Asn8791=)
c.26357A= (p.Asn8786=)
c.26342A= (p.Asn8781=)
c.26330A= (p.Asn8777=)
c.26327A= (p.Asn8776=)
c.26324A= (p.Asn8775=)
c.*147A= (n.*147A=)
c.26480A= (p.Asn8827=)
c.26468A= (p.Asn8823=)
c.26318A= (p.Asn8773=)
c.24758A= (p.Asn8253=)
c.24251A= (p.Asn8084=)
c.19718A= (p.Asn6573=)
c.26456A= (p.Asn8819=)
c.26405A= (p.Asn8802=)
c.26369A= (p.Asn8790=)
c.26216A= (p.Asn8739=)
6g.152122495T>ACA366088619ESR1,SYNE1c.2869A>T (p.Asn957Tyr)
c.26335A>T (p.Asn8779Tyr)
c.26191A>T (p.Asn8731Tyr)
c.1678A>T
c.2053A>T
c.1920A>T
c.2185A>T (n.2185A>T)
c.25120A>T (p.Asn8374Tyr)
n.3083A>T
c.5111A>T (n.5111A>T)
n.10027A>T
c.4214A>T (n.4214A>T)
n.9919A>T
c.851-2771T>A (n.851-2771T>A)
n.2949A>T
n.6972A>T
c.2800A>T (p.Asn934Tyr)
c.26482A>T (p.Asn8828Tyr)
c.26470A>T (p.Asn8824Tyr)
c.26461A>T (p.Asn8821Tyr)
c.26440A>T (p.Asn8814Tyr)
c.26431A>T (p.Asn8811Tyr)
c.26425A>T (p.Asn8809Tyr)
c.26413A>T (p.Asn8805Tyr)
c.26410A>T (p.Asn8804Tyr)
c.26371A>T (p.Asn8791Tyr)
c.26356A>T (p.Asn8786Tyr)
c.26341A>T (p.Asn8781Tyr)
c.26329A>T (p.Asn8777Tyr)
c.26326A>T (p.Asn8776Tyr)
c.26323A>T (p.Asn8775Tyr)
c.*146A>T (n.*146A>T)
c.26479A>T (p.Asn8827Tyr)
c.26467A>T (p.Asn8823Tyr)
c.26317A>T (p.Asn8773Tyr)
c.24757A>T (p.Asn8253Tyr)
c.24250A>T (p.Asn8084Tyr)
c.19717A>T (p.Asn6573Tyr)
c.26455A>T (p.Asn8819Tyr)
c.26404A>T (p.Asn8802Tyr)
c.26368A>T (p.Asn8790Tyr)
c.26215A>T (p.Asn8739Tyr)
6g.152122495T>CCA4052585ESR1,SYNE1c.2869A>G (p.Asn957Asp)
c.26335A>G (p.Asn8779Asp)
c.26191A>G (p.Asn8731Asp)
c.1678A>G
c.2053A>G
c.1920A>G
c.2185A>G (n.2185A>G)
c.25120A>G (p.Asn8374Asp)
n.3083A>G
c.5111A>G (n.5111A>G)
n.10027A>G
c.4214A>G (n.4214A>G)
n.9919A>G
c.851-2771T>C (n.851-2771T>C)
n.2949A>G
n.6972A>G
c.2800A>G (p.Asn934Asp)
c.26482A>G (p.Asn8828Asp)
c.26470A>G (p.Asn8824Asp)
c.26461A>G (p.Asn8821Asp)
c.26440A>G (p.Asn8814Asp)
c.26431A>G (p.Asn8811Asp)
c.26425A>G (p.Asn8809Asp)
c.26413A>G (p.Asn8805Asp)
c.26410A>G (p.Asn8804Asp)
c.26371A>G (p.Asn8791Asp)
c.26356A>G (p.Asn8786Asp)
c.26341A>G (p.Asn8781Asp)
c.26329A>G (p.Asn8777Asp)
c.26326A>G (p.Asn8776Asp)
c.26323A>G (p.Asn8775Asp)
c.*146A>G (n.*146A>G)
c.26479A>G (p.Asn8827Asp)
c.26467A>G (p.Asn8823Asp)
c.26317A>G (p.Asn8773Asp)
c.24757A>G (p.Asn8253Asp)
c.24250A>G (p.Asn8084Asp)
c.19717A>G (p.Asn6573Asp)
c.26455A>G (p.Asn8819Asp)
c.26404A>G (p.Asn8802Asp)
c.26368A>G (p.Asn8790Asp)
c.26215A>G (p.Asn8739Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122495T>GCA366088622ESR1,SYNE1c.2869A>C (p.Asn957His)
c.26335A>C (p.Asn8779His)
c.26191A>C (p.Asn8731His)
c.1678A>C
c.2053A>C
c.1920A>C
c.2185A>C (n.2185A>C)
c.25120A>C (p.Asn8374His)
n.3083A>C
c.5111A>C (n.5111A>C)
n.10027A>C
c.4214A>C (n.4214A>C)
n.9919A>C
c.851-2771T>G (n.851-2771T>G)
n.2949A>C
n.6972A>C
c.2800A>C (p.Asn934His)
c.26482A>C (p.Asn8828His)
c.26470A>C (p.Asn8824His)
c.26461A>C (p.Asn8821His)
c.26440A>C (p.Asn8814His)
c.26431A>C (p.Asn8811His)
c.26425A>C (p.Asn8809His)
c.26413A>C (p.Asn8805His)
c.26410A>C (p.Asn8804His)
c.26371A>C (p.Asn8791His)
c.26356A>C (p.Asn8786His)
c.26341A>C (p.Asn8781His)
c.26329A>C (p.Asn8777His)
c.26326A>C (p.Asn8776His)
c.26323A>C (p.Asn8775His)
c.*146A>C (n.*146A>C)
c.26479A>C (p.Asn8827His)
c.26467A>C (p.Asn8823His)
c.26317A>C (p.Asn8773His)
c.24757A>C (p.Asn8253His)
c.24250A>C (p.Asn8084His)
c.19717A>C (p.Asn6573His)
c.26455A>C (p.Asn8819His)
c.26404A>C (p.Asn8802His)
c.26368A>C (p.Asn8790His)
c.26215A>C (p.Asn8739His)
6g.152122495T=CA1673188871ESR1,SYNE1c.2869A= (p.Asn957=)
c.26335A= (p.Asn8779=)
c.26191A= (p.Asn8731=)
c.1678A=
c.2053A=
c.1920A=
c.2185A= (n.2185A=)
c.25120A= (p.Asn8374=)
n.3083A=
c.5111A= (n.5111A=)
n.10027A=
c.4214A= (n.4214A=)
n.9919A=
c.851-2771T= (n.851-2771T=)
n.2949A=
n.6972A=
c.2800A= (p.Asn934=)
c.26482A= (p.Asn8828=)
c.26470A= (p.Asn8824=)
c.26461A= (p.Asn8821=)
c.26440A= (p.Asn8814=)
c.26431A= (p.Asn8811=)
c.26425A= (p.Asn8809=)
c.26413A= (p.Asn8805=)
c.26410A= (p.Asn8804=)
c.26371A= (p.Asn8791=)
c.26356A= (p.Asn8786=)
c.26341A= (p.Asn8781=)
c.26329A= (p.Asn8777=)
c.26326A= (p.Asn8776=)
c.26323A= (p.Asn8775=)
c.*146A= (n.*146A=)
c.26479A= (p.Asn8827=)
c.26467A= (p.Asn8823=)
c.26317A= (p.Asn8773=)
c.24757A= (p.Asn8253=)
c.24250A= (p.Asn8084=)
c.19717A= (p.Asn6573=)
c.26455A= (p.Asn8819=)
c.26404A= (p.Asn8802=)
c.26368A= (p.Asn8790=)
c.26215A= (p.Asn8739=)
6g.152122496G>ACA452969561ESR1,SYNE1c.2868C>T (p.Asn956=)
c.26334C>T (p.Asn8778=)
c.26190C>T (p.Asn8730=)
c.1677C>T
c.2052C>T
c.1919C>T
c.2184C>T (n.2184C>T)
c.25119C>T (p.Asn8373=)
n.3082C>T
c.5110C>T (n.5110C>T)
n.10026C>T
c.4213C>T (n.4213C>T)
n.9918C>T
c.851-2770G>A (n.851-2770G>A)
n.2948C>T
n.6971C>T
c.2799C>T (p.Asn933=)
c.26481C>T (p.Asn8827=)
c.26469C>T (p.Asn8823=)
c.26460C>T (p.Asn8820=)
c.26439C>T (p.Asn8813=)
c.26430C>T (p.Asn8810=)
c.26424C>T (p.Asn8808=)
c.26412C>T (p.Asn8804=)
c.26409C>T (p.Asn8803=)
c.26370C>T (p.Asn8790=)
c.26355C>T (p.Asn8785=)
c.26340C>T (p.Asn8780=)
c.26328C>T (p.Asn8776=)
c.26325C>T (p.Asn8775=)
c.26322C>T (p.Asn8774=)
c.*145C>T (n.*145C>T)
c.26478C>T (p.Asn8826=)
c.26466C>T (p.Asn8822=)
c.26316C>T (p.Asn8772=)
c.24756C>T (p.Asn8252=)
c.24249C>T (p.Asn8083=)
c.19716C>T (p.Asn6572=)
c.26454C>T (p.Asn8818=)
c.26403C>T (p.Asn8801=)
c.26367C>T (p.Asn8789=)
c.26214C>T (p.Asn8738=)
6g.152122496G>CCA366088624ESR1,SYNE1c.2868C>G (p.Asn956Lys)
c.26334C>G (p.Asn8778Lys)
c.26190C>G (p.Asn8730Lys)
c.1677C>G
c.2052C>G
c.1919C>G
c.2184C>G (n.2184C>G)
c.25119C>G (p.Asn8373Lys)
n.3082C>G
c.5110C>G (n.5110C>G)
n.10026C>G
c.4213C>G (n.4213C>G)
n.9918C>G
c.851-2770G>C (n.851-2770G>C)
n.2948C>G
n.6971C>G
c.2799C>G (p.Asn933Lys)
c.26481C>G (p.Asn8827Lys)
c.26469C>G (p.Asn8823Lys)
c.26460C>G (p.Asn8820Lys)
c.26439C>G (p.Asn8813Lys)
c.26430C>G (p.Asn8810Lys)
c.26424C>G (p.Asn8808Lys)
c.26412C>G (p.Asn8804Lys)
c.26409C>G (p.Asn8803Lys)
c.26370C>G (p.Asn8790Lys)
c.26355C>G (p.Asn8785Lys)
c.26340C>G (p.Asn8780Lys)
c.26328C>G (p.Asn8776Lys)
c.26325C>G (p.Asn8775Lys)
c.26322C>G (p.Asn8774Lys)
c.*145C>G (n.*145C>G)
c.26478C>G (p.Asn8826Lys)
c.26466C>G (p.Asn8822Lys)
c.26316C>G (p.Asn8772Lys)
c.24756C>G (p.Asn8252Lys)
c.24249C>G (p.Asn8083Lys)
c.19716C>G (p.Asn6572Lys)
c.26454C>G (p.Asn8818Lys)
c.26403C>G (p.Asn8801Lys)
c.26367C>G (p.Asn8789Lys)
c.26214C>G (p.Asn8738Lys)
6g.152122496G=CA1673188874ESR1,SYNE1c.2868C= (p.Asn956=)
c.26334C= (p.Asn8778=)
c.26190C= (p.Asn8730=)
c.1677C=
c.2052C=
c.1919C=
c.2184C= (n.2184C=)
c.25119C= (p.Asn8373=)
n.3082C=
c.5110C= (n.5110C=)
n.10026C=
c.4213C= (n.4213C=)
n.9918C=
c.851-2770G= (n.851-2770G=)
n.2948C=
n.6971C=
c.2799C= (p.Asn933=)
c.26481C= (p.Asn8827=)
c.26469C= (p.Asn8823=)
c.26460C= (p.Asn8820=)
c.26439C= (p.Asn8813=)
c.26430C= (p.Asn8810=)
c.26424C= (p.Asn8808=)
c.26412C= (p.Asn8804=)
c.26409C= (p.Asn8803=)
c.26370C= (p.Asn8790=)
c.26355C= (p.Asn8785=)
c.26340C= (p.Asn8780=)
c.26328C= (p.Asn8776=)
c.26325C= (p.Asn8775=)
c.26322C= (p.Asn8774=)
c.*145C= (n.*145C=)
c.26478C= (p.Asn8826=)
c.26466C= (p.Asn8822=)
c.26316C= (p.Asn8772=)
c.24756C= (p.Asn8252=)
c.24249C= (p.Asn8083=)
c.19716C= (p.Asn6572=)
c.26454C= (p.Asn8818=)
c.26403C= (p.Asn8801=)
c.26367C= (p.Asn8789=)
c.26214C= (p.Asn8738=)
6g.152122496G>TCA366088626ESR1,SYNE1c.2868C>A (p.Asn956Lys)
c.26334C>A (p.Asn8778Lys)
c.26190C>A (p.Asn8730Lys)
c.1677C>A
c.2052C>A
c.1919C>A
c.2184C>A (n.2184C>A)
c.25119C>A (p.Asn8373Lys)
n.3082C>A
c.5110C>A (n.5110C>A)
n.10026C>A
c.4213C>A (n.4213C>A)
n.9918C>A
c.851-2770G>T (n.851-2770G>T)
n.2948C>A
n.6971C>A
c.2799C>A (p.Asn933Lys)
c.26481C>A (p.Asn8827Lys)
c.26469C>A (p.Asn8823Lys)
c.26460C>A (p.Asn8820Lys)
c.26439C>A (p.Asn8813Lys)
c.26430C>A (p.Asn8810Lys)
c.26424C>A (p.Asn8808Lys)
c.26412C>A (p.Asn8804Lys)
c.26409C>A (p.Asn8803Lys)
c.26370C>A (p.Asn8790Lys)
c.26355C>A (p.Asn8785Lys)
c.26340C>A (p.Asn8780Lys)
c.26328C>A (p.Asn8776Lys)
c.26325C>A (p.Asn8775Lys)
c.26322C>A (p.Asn8774Lys)
c.*145C>A (n.*145C>A)
c.26478C>A (p.Asn8826Lys)
c.26466C>A (p.Asn8822Lys)
c.26316C>A (p.Asn8772Lys)
c.24756C>A (p.Asn8252Lys)
c.24249C>A (p.Asn8083Lys)
c.19716C>A (p.Asn6572Lys)
c.26454C>A (p.Asn8818Lys)
c.26403C>A (p.Asn8801Lys)
c.26367C>A (p.Asn8789Lys)
c.26214C>A (p.Asn8738Lys)
 dbSNP
6g.152122497T>ACA366088628ESR1,SYNE1c.2867A>T (p.Asn956Ile)
c.26333A>T (p.Asn8778Ile)
c.26189A>T (p.Asn8730Ile)
c.1676A>T
c.2051A>T
c.1918A>T
c.2183A>T (n.2183A>T)
c.25118A>T (p.Asn8373Ile)
n.3081A>T
c.5109A>T (n.5109A>T)
n.10025A>T
c.4212A>T (n.4212A>T)
n.9917A>T
c.851-2769T>A (n.851-2769T>A)
n.2947A>T
n.6970A>T
c.2798A>T (p.Asn933Ile)
c.26480A>T (p.Asn8827Ile)
c.26468A>T (p.Asn8823Ile)
c.26459A>T (p.Asn8820Ile)
c.26438A>T (p.Asn8813Ile)
c.26429A>T (p.Asn8810Ile)
c.26423A>T (p.Asn8808Ile)
c.26411A>T (p.Asn8804Ile)
c.26408A>T (p.Asn8803Ile)
c.26369A>T (p.Asn8790Ile)
c.26354A>T (p.Asn8785Ile)
c.26339A>T (p.Asn8780Ile)
c.26327A>T (p.Asn8776Ile)
c.26324A>T (p.Asn8775Ile)
c.26321A>T (p.Asn8774Ile)
c.*144A>T (n.*144A>T)
c.26477A>T (p.Asn8826Ile)
c.26465A>T (p.Asn8822Ile)
c.26315A>T (p.Asn8772Ile)
c.24755A>T (p.Asn8252Ile)
c.24248A>T (p.Asn8083Ile)
c.19715A>T (p.Asn6572Ile)
c.26453A>T (p.Asn8818Ile)
c.26402A>T (p.Asn8801Ile)
c.26366A>T (p.Asn8789Ile)
c.26213A>T (p.Asn8738Ile)
6g.152122497T>CCA366088629ESR1,SYNE1c.2867A>G (p.Asn956Ser)
c.26333A>G (p.Asn8778Ser)
c.26189A>G (p.Asn8730Ser)
c.1676A>G
c.2051A>G
c.1918A>G
c.2183A>G (n.2183A>G)
c.25118A>G (p.Asn8373Ser)
n.3081A>G
c.5109A>G (n.5109A>G)
n.10025A>G
c.4212A>G (n.4212A>G)
n.9917A>G
c.851-2769T>C (n.851-2769T>C)
n.2947A>G
n.6970A>G
c.2798A>G (p.Asn933Ser)
c.26480A>G (p.Asn8827Ser)
c.26468A>G (p.Asn8823Ser)
c.26459A>G (p.Asn8820Ser)
c.26438A>G (p.Asn8813Ser)
c.26429A>G (p.Asn8810Ser)
c.26423A>G (p.Asn8808Ser)
c.26411A>G (p.Asn8804Ser)
c.26408A>G (p.Asn8803Ser)
c.26369A>G (p.Asn8790Ser)
c.26354A>G (p.Asn8785Ser)
c.26339A>G (p.Asn8780Ser)
c.26327A>G (p.Asn8776Ser)
c.26324A>G (p.Asn8775Ser)
c.26321A>G (p.Asn8774Ser)
c.*144A>G (n.*144A>G)
c.26477A>G (p.Asn8826Ser)
c.26465A>G (p.Asn8822Ser)
c.26315A>G (p.Asn8772Ser)
c.24755A>G (p.Asn8252Ser)
c.24248A>G (p.Asn8083Ser)
c.19715A>G (p.Asn6572Ser)
c.26453A>G (p.Asn8818Ser)
c.26402A>G (p.Asn8801Ser)
c.26366A>G (p.Asn8789Ser)
c.26213A>G (p.Asn8738Ser)
6g.152122497T>GCA366088632ESR1,SYNE1c.2867A>C (p.Asn956Thr)
c.26333A>C (p.Asn8778Thr)
c.26189A>C (p.Asn8730Thr)
c.1676A>C
c.2051A>C
c.1918A>C
c.2183A>C (n.2183A>C)
c.25118A>C (p.Asn8373Thr)
n.3081A>C
c.5109A>C (n.5109A>C)
n.10025A>C
c.4212A>C (n.4212A>C)
n.9917A>C
c.851-2769T>G (n.851-2769T>G)
n.2947A>C
n.6970A>C
c.2798A>C (p.Asn933Thr)
c.26480A>C (p.Asn8827Thr)
c.26468A>C (p.Asn8823Thr)
c.26459A>C (p.Asn8820Thr)
c.26438A>C (p.Asn8813Thr)
c.26429A>C (p.Asn8810Thr)
c.26423A>C (p.Asn8808Thr)
c.26411A>C (p.Asn8804Thr)
c.26408A>C (p.Asn8803Thr)
c.26369A>C (p.Asn8790Thr)
c.26354A>C (p.Asn8785Thr)
c.26339A>C (p.Asn8780Thr)
c.26327A>C (p.Asn8776Thr)
c.26324A>C (p.Asn8775Thr)
c.26321A>C (p.Asn8774Thr)
c.*144A>C (n.*144A>C)
c.26477A>C (p.Asn8826Thr)
c.26465A>C (p.Asn8822Thr)
c.26315A>C (p.Asn8772Thr)
c.24755A>C (p.Asn8252Thr)
c.24248A>C (p.Asn8083Thr)
c.19715A>C (p.Asn6572Thr)
c.26453A>C (p.Asn8818Thr)
c.26402A>C (p.Asn8801Thr)
c.26366A>C (p.Asn8789Thr)
c.26213A>C (p.Asn8738Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.152122497T=CA1673188882ESR1,SYNE1c.2867A= (p.Asn956=)
c.26333A= (p.Asn8778=)
c.26189A= (p.Asn8730=)
c.1676A=
c.2051A=
c.1918A=
c.2183A= (n.2183A=)
c.25118A= (p.Asn8373=)
n.3081A=
c.5109A= (n.5109A=)
n.10025A=
c.4212A= (n.4212A=)
n.9917A=
c.851-2769T= (n.851-2769T=)
n.2947A=
n.6970A=
c.2798A= (p.Asn933=)
c.26480A= (p.Asn8827=)
c.26468A= (p.Asn8823=)
c.26459A= (p.Asn8820=)
c.26438A= (p.Asn8813=)
c.26429A= (p.Asn8810=)
c.26423A= (p.Asn8808=)
c.26411A= (p.Asn8804=)
c.26408A= (p.Asn8803=)
c.26369A= (p.Asn8790=)
c.26354A= (p.Asn8785=)
c.26339A= (p.Asn8780=)
c.26327A= (p.Asn8776=)
c.26324A= (p.Asn8775=)
c.26321A= (p.Asn8774=)
c.*144A= (n.*144A=)
c.26477A= (p.Asn8826=)
c.26465A= (p.Asn8822=)
c.26315A= (p.Asn8772=)
c.24755A= (p.Asn8252=)
c.24248A= (p.Asn8083=)
c.19715A= (p.Asn6572=)
c.26453A= (p.Asn8818=)
c.26402A= (p.Asn8801=)
c.26366A= (p.Asn8789=)
c.26213A= (p.Asn8738=)
6g.152122498T>ACA366088634ESR1,SYNE1c.2866A>T (p.Asn956Tyr)
c.26332A>T (p.Asn8778Tyr)
c.26188A>T (p.Asn8730Tyr)
c.1675A>T
c.2050A>T
c.1917A>T
c.2182A>T (n.2182A>T)
c.25117A>T (p.Asn8373Tyr)
n.3080A>T
c.5108A>T (n.5108A>T)
n.10024A>T
c.4211A>T (n.4211A>T)
n.9916A>T
c.851-2768T>A (n.851-2768T>A)
n.2946A>T
n.6969A>T
c.2797A>T (p.Asn933Tyr)
c.26479A>T (p.Asn8827Tyr)
c.26467A>T (p.Asn8823Tyr)
c.26458A>T (p.Asn8820Tyr)
c.26437A>T (p.Asn8813Tyr)
c.26428A>T (p.Asn8810Tyr)
c.26422A>T (p.Asn8808Tyr)
c.26410A>T (p.Asn8804Tyr)
c.26407A>T (p.Asn8803Tyr)
c.26368A>T (p.Asn8790Tyr)
c.26353A>T (p.Asn8785Tyr)
c.26338A>T (p.Asn8780Tyr)
c.26326A>T (p.Asn8776Tyr)
c.26323A>T (p.Asn8775Tyr)
c.26320A>T (p.Asn8774Tyr)
c.*143A>T (n.*143A>T)
c.26476A>T (p.Asn8826Tyr)
c.26464A>T (p.Asn8822Tyr)
c.26314A>T (p.Asn8772Tyr)
c.24754A>T (p.Asn8252Tyr)
c.24247A>T (p.Asn8083Tyr)
c.19714A>T (p.Asn6572Tyr)
c.26452A>T (p.Asn8818Tyr)
c.26401A>T (p.Asn8801Tyr)
c.26365A>T (p.Asn8789Tyr)
c.26212A>T (p.Asn8738Tyr)
6g.152122498T>CCA366088638ESR1,SYNE1c.2866A>G (p.Asn956Asp)
c.26332A>G (p.Asn8778Asp)
c.26188A>G (p.Asn8730Asp)
c.1675A>G
c.2050A>G
c.1917A>G
c.2182A>G (n.2182A>G)
c.25117A>G (p.Asn8373Asp)
n.3080A>G
c.5108A>G (n.5108A>G)
n.10024A>G
c.4211A>G (n.4211A>G)
n.9916A>G
c.851-2768T>C (n.851-2768T>C)
n.2946A>G
n.6969A>G
c.2797A>G (p.Asn933Asp)
c.26479A>G (p.Asn8827Asp)
c.26467A>G (p.Asn8823Asp)
c.26458A>G (p.Asn8820Asp)
c.26437A>G (p.Asn8813Asp)
c.26428A>G (p.Asn8810Asp)
c.26422A>G (p.Asn8808Asp)
c.26410A>G (p.Asn8804Asp)
c.26407A>G (p.Asn8803Asp)
c.26368A>G (p.Asn8790Asp)
c.26353A>G (p.Asn8785Asp)
c.26338A>G (p.Asn8780Asp)
c.26326A>G (p.Asn8776Asp)
c.26323A>G (p.Asn8775Asp)
c.26320A>G (p.Asn8774Asp)
c.*143A>G (n.*143A>G)
c.26476A>G (p.Asn8826Asp)
c.26464A>G (p.Asn8822Asp)
c.26314A>G (p.Asn8772Asp)
c.24754A>G (p.Asn8252Asp)
c.24247A>G (p.Asn8083Asp)
c.19714A>G (p.Asn6572Asp)
c.26452A>G (p.Asn8818Asp)
c.26401A>G (p.Asn8801Asp)
c.26365A>G (p.Asn8789Asp)
c.26212A>G (p.Asn8738Asp)
 dbSNP
6g.152122498T>GCA366088636ESR1,SYNE1c.2866A>C (p.Asn956His)
c.26332A>C (p.Asn8778His)
c.26188A>C (p.Asn8730His)
c.1675A>C
c.2050A>C
c.1917A>C
c.2182A>C (n.2182A>C)
c.25117A>C (p.Asn8373His)
n.3080A>C
c.5108A>C (n.5108A>C)
n.10024A>C
c.4211A>C (n.4211A>C)
n.9916A>C
c.851-2768T>G (n.851-2768T>G)
n.2946A>C
n.6969A>C
c.2797A>C (p.Asn933His)
c.26479A>C (p.Asn8827His)
c.26467A>C (p.Asn8823His)
c.26458A>C (p.Asn8820His)
c.26437A>C (p.Asn8813His)
c.26428A>C (p.Asn8810His)
c.26422A>C (p.Asn8808His)
c.26410A>C (p.Asn8804His)
c.26407A>C (p.Asn8803His)
c.26368A>C (p.Asn8790His)
c.26353A>C (p.Asn8785His)
c.26338A>C (p.Asn8780His)
c.26326A>C (p.Asn8776His)
c.26323A>C (p.Asn8775His)
c.26320A>C (p.Asn8774His)
c.*143A>C (n.*143A>C)
c.26476A>C (p.Asn8826His)
c.26464A>C (p.Asn8822His)
c.26314A>C (p.Asn8772His)
c.24754A>C (p.Asn8252His)
c.24247A>C (p.Asn8083His)
c.19714A>C (p.Asn6572His)
c.26452A>C (p.Asn8818His)
c.26401A>C (p.Asn8801His)
c.26365A>C (p.Asn8789His)
c.26212A>C (p.Asn8738His)
6g.152122498T=CA1673188883ESR1,SYNE1c.2866A= (p.Asn956=)
c.26332A= (p.Asn8778=)
c.26188A= (p.Asn8730=)
c.1675A=
c.2050A=
c.1917A=
c.2182A= (n.2182A=)
c.25117A= (p.Asn8373=)
n.3080A=
c.5108A= (n.5108A=)
n.10024A=
c.4211A= (n.4211A=)
n.9916A=
c.851-2768T= (n.851-2768T=)
n.2946A=
n.6969A=
c.2797A= (p.Asn933=)
c.26479A= (p.Asn8827=)
c.26467A= (p.Asn8823=)
c.26458A= (p.Asn8820=)
c.26437A= (p.Asn8813=)
c.26428A= (p.Asn8810=)
c.26422A= (p.Asn8808=)
c.26410A= (p.Asn8804=)
c.26407A= (p.Asn8803=)
c.26368A= (p.Asn8790=)
c.26353A= (p.Asn8785=)
c.26338A= (p.Asn8780=)
c.26326A= (p.Asn8776=)
c.26323A= (p.Asn8775=)
c.26320A= (p.Asn8774=)
c.*143A= (n.*143A=)
c.26476A= (p.Asn8826=)
c.26464A= (p.Asn8822=)
c.26314A= (p.Asn8772=)
c.24754A= (p.Asn8252=)
c.24247A= (p.Asn8083=)
c.19714A= (p.Asn6572=)
c.26452A= (p.Asn8818=)
c.26401A= (p.Asn8801=)
c.26365A= (p.Asn8789=)
c.26212A= (p.Asn8738=)
6g.152122499G>ACA452969570ESR1,SYNE1c.2865C>T (p.Ser955=)
c.26331C>T (p.Ser8777=)
c.26187C>T (p.Ser8729=)
c.1674C>T
c.2049C>T
c.1916C>T
c.2181C>T (n.2181C>T)
c.25116C>T (p.Ser8372=)
n.3079C>T
c.5107C>T (n.5107C>T)
n.10023C>T
c.4210C>T (n.4210C>T)
n.9915C>T
c.851-2767G>A (n.851-2767G>A)
n.2945C>T
n.6968C>T
c.2796C>T (p.Ser932=)
c.26478C>T (p.Ser8826=)
c.26466C>T (p.Ser8822=)
c.26457C>T (p.Ser8819=)
c.26436C>T (p.Ser8812=)
c.26427C>T (p.Ser8809=)
c.26421C>T (p.Ser8807=)
c.26409C>T (p.Ser8803=)
c.26406C>T (p.Ser8802=)
c.26367C>T (p.Ser8789=)
c.26352C>T (p.Ser8784=)
c.26337C>T (p.Ser8779=)
c.26325C>T (p.Ser8775=)
c.26322C>T (p.Ser8774=)
c.26319C>T (p.Ser8773=)
c.*142C>T (n.*142C>T)
c.26475C>T (p.Ser8825=)
c.26463C>T (p.Ser8821=)
c.26313C>T (p.Ser8771=)
c.24753C>T (p.Ser8251=)
c.24246C>T (p.Ser8082=)
c.19713C>T (p.Ser6571=)
c.26451C>T (p.Ser8817=)
c.26400C>T (p.Ser8800=)
c.26364C>T (p.Ser8788=)
c.26211C>T (p.Ser8737=)
6g.152122499G>CCA452969571ESR1,SYNE1c.2865C>G (p.Ser955=)
c.26331C>G (p.Ser8777=)
c.26187C>G (p.Ser8729=)
c.1674C>G
c.2049C>G
c.1916C>G
c.2181C>G (n.2181C>G)
c.25116C>G (p.Ser8372=)
n.3079C>G
c.5107C>G (n.5107C>G)
n.10023C>G
c.4210C>G (n.4210C>G)
n.9915C>G
c.851-2767G>C (n.851-2767G>C)
n.2945C>G
n.6968C>G
c.2796C>G (p.Ser932=)
c.26478C>G (p.Ser8826=)
c.26466C>G (p.Ser8822=)
c.26457C>G (p.Ser8819=)
c.26436C>G (p.Ser8812=)
c.26427C>G (p.Ser8809=)
c.26421C>G (p.Ser8807=)
c.26409C>G (p.Ser8803=)
c.26406C>G (p.Ser8802=)
c.26367C>G (p.Ser8789=)
c.26352C>G (p.Ser8784=)
c.26337C>G (p.Ser8779=)
c.26325C>G (p.Ser8775=)
c.26322C>G (p.Ser8774=)
c.26319C>G (p.Ser8773=)
c.*142C>G (n.*142C>G)
c.26475C>G (p.Ser8825=)
c.26463C>G (p.Ser8821=)
c.26313C>G (p.Ser8771=)
c.24753C>G (p.Ser8251=)
c.24246C>G (p.Ser8082=)
c.19713C>G (p.Ser6571=)
c.26451C>G (p.Ser8817=)
c.26400C>G (p.Ser8800=)
c.26364C>G (p.Ser8788=)
c.26211C>G (p.Ser8737=)
6g.152122499G>TCA452969572ESR1,SYNE1c.2865C>A (p.Ser955=)
c.26331C>A (p.Ser8777=)
c.26187C>A (p.Ser8729=)
c.1674C>A
c.2049C>A
c.1916C>A
c.2181C>A (n.2181C>A)
c.25116C>A (p.Ser8372=)
n.3079C>A
c.5107C>A (n.5107C>A)
n.10023C>A
c.4210C>A (n.4210C>A)
n.9915C>A
c.851-2767G>T (n.851-2767G>T)
n.2945C>A
n.6968C>A
c.2796C>A (p.Ser932=)
c.26478C>A (p.Ser8826=)
c.26466C>A (p.Ser8822=)
c.26457C>A (p.Ser8819=)
c.26436C>A (p.Ser8812=)
c.26427C>A (p.Ser8809=)
c.26421C>A (p.Ser8807=)
c.26409C>A (p.Ser8803=)
c.26406C>A (p.Ser8802=)
c.26367C>A (p.Ser8789=)
c.26352C>A (p.Ser8784=)
c.26337C>A (p.Ser8779=)
c.26325C>A (p.Ser8775=)
c.26322C>A (p.Ser8774=)
c.26319C>A (p.Ser8773=)
c.*142C>A (n.*142C>A)
c.26475C>A (p.Ser8825=)
c.26463C>A (p.Ser8821=)
c.26313C>A (p.Ser8771=)
c.24753C>A (p.Ser8251=)
c.24246C>A (p.Ser8082=)
c.19713C>A (p.Ser6571=)
c.26451C>A (p.Ser8817=)
c.26400C>A (p.Ser8800=)
c.26364C>A (p.Ser8788=)
c.26211C>A (p.Ser8737=)
6g.152122500G>ACA366088640ESR1,SYNE1c.2864C>T (p.Ser955Phe)
c.26330C>T (p.Ser8777Phe)
c.26186C>T (p.Ser8729Phe)
c.1673C>T
c.2048C>T
c.1915C>T
c.2180C>T (n.2180C>T)
c.25115C>T (p.Ser8372Phe)
n.3078C>T
c.5106C>T (n.5106C>T)
n.10022C>T
c.4209C>T (n.4209C>T)
n.9914C>T
c.851-2766G>A (n.851-2766G>A)
n.2944C>T
n.6967C>T
c.2795C>T (p.Ser932Phe)
c.26477C>T (p.Ser8826Phe)
c.26465C>T (p.Ser8822Phe)
c.26456C>T (p.Ser8819Phe)
c.26435C>T (p.Ser8812Phe)
c.26426C>T (p.Ser8809Phe)
c.26420C>T (p.Ser8807Phe)
c.26408C>T (p.Ser8803Phe)
c.26405C>T (p.Ser8802Phe)
c.26366C>T (p.Ser8789Phe)
c.26351C>T (p.Ser8784Phe)
c.26336C>T (p.Ser8779Phe)
c.26324C>T (p.Ser8775Phe)
c.26321C>T (p.Ser8774Phe)
c.26318C>T (p.Ser8773Phe)
c.*141C>T (n.*141C>T)
c.26474C>T (p.Ser8825Phe)
c.26462C>T (p.Ser8821Phe)
c.26312C>T (p.Ser8771Phe)
c.24752C>T (p.Ser8251Phe)
c.24245C>T (p.Ser8082Phe)
c.19712C>T (p.Ser6571Phe)
c.26450C>T (p.Ser8817Phe)
c.26399C>T (p.Ser8800Phe)
c.26363C>T (p.Ser8788Phe)
c.26210C>T (p.Ser8737Phe)
6g.152122500G>CCA4052586ESR1,SYNE1c.2864C>G (p.Ser955Cys)
c.26330C>G (p.Ser8777Cys)
c.26186C>G (p.Ser8729Cys)
c.1673C>G
c.2048C>G
c.1915C>G
c.2180C>G (n.2180C>G)
c.25115C>G (p.Ser8372Cys)
n.3078C>G
c.5106C>G (n.5106C>G)
n.10022C>G
c.4209C>G (n.4209C>G)
n.9914C>G
c.851-2766G>C (n.851-2766G>C)
n.2944C>G
n.6967C>G
c.2795C>G (p.Ser932Cys)
c.26477C>G (p.Ser8826Cys)
c.26465C>G (p.Ser8822Cys)
c.26456C>G (p.Ser8819Cys)
c.26435C>G (p.Ser8812Cys)
c.26426C>G (p.Ser8809Cys)
c.26420C>G (p.Ser8807Cys)
c.26408C>G (p.Ser8803Cys)
c.26405C>G (p.Ser8802Cys)
c.26366C>G (p.Ser8789Cys)
c.26351C>G (p.Ser8784Cys)
c.26336C>G (p.Ser8779Cys)
c.26324C>G (p.Ser8775Cys)
c.26321C>G (p.Ser8774Cys)
c.26318C>G (p.Ser8773Cys)
c.*141C>G (n.*141C>G)
c.26474C>G (p.Ser8825Cys)
c.26462C>G (p.Ser8821Cys)
c.26312C>G (p.Ser8771Cys)
c.24752C>G (p.Ser8251Cys)
c.24245C>G (p.Ser8082Cys)
c.19712C>G (p.Ser6571Cys)
c.26450C>G (p.Ser8817Cys)
c.26399C>G (p.Ser8800Cys)
c.26363C>G (p.Ser8788Cys)
c.26210C>G (p.Ser8737Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122500G=CA1673188887ESR1,SYNE1c.2864C= (p.Ser955=)
c.26330C= (p.Ser8777=)
c.26186C= (p.Ser8729=)
c.1673C=
c.2048C=
c.1915C=
c.2180C= (n.2180C=)
c.25115C= (p.Ser8372=)
n.3078C=
c.5106C= (n.5106C=)
n.10022C=
c.4209C= (n.4209C=)
n.9914C=
c.851-2766G= (n.851-2766G=)
n.2944C=
n.6967C=
c.2795C= (p.Ser932=)
c.26477C= (p.Ser8826=)
c.26465C= (p.Ser8822=)
c.26456C= (p.Ser8819=)
c.26435C= (p.Ser8812=)
c.26426C= (p.Ser8809=)
c.26420C= (p.Ser8807=)
c.26408C= (p.Ser8803=)
c.26405C= (p.Ser8802=)
c.26366C= (p.Ser8789=)
c.26351C= (p.Ser8784=)
c.26336C= (p.Ser8779=)
c.26324C= (p.Ser8775=)
c.26321C= (p.Ser8774=)
c.26318C= (p.Ser8773=)
c.*141C= (n.*141C=)
c.26474C= (p.Ser8825=)
c.26462C= (p.Ser8821=)
c.26312C= (p.Ser8771=)
c.24752C= (p.Ser8251=)
c.24245C= (p.Ser8082=)
c.19712C= (p.Ser6571=)
c.26450C= (p.Ser8817=)
c.26399C= (p.Ser8800=)
c.26363C= (p.Ser8788=)
c.26210C= (p.Ser8737=)
6g.152122500G>TCA366088643ESR1,SYNE1c.2864C>A (p.Ser955Tyr)
c.26330C>A (p.Ser8777Tyr)
c.26186C>A (p.Ser8729Tyr)
c.1673C>A
c.2048C>A
c.1915C>A
c.2180C>A (n.2180C>A)
c.25115C>A (p.Ser8372Tyr)
n.3078C>A
c.5106C>A (n.5106C>A)
n.10022C>A
c.4209C>A (n.4209C>A)
n.9914C>A
c.851-2766G>T (n.851-2766G>T)
n.2944C>A
n.6967C>A
c.2795C>A (p.Ser932Tyr)
c.26477C>A (p.Ser8826Tyr)
c.26465C>A (p.Ser8822Tyr)
c.26456C>A (p.Ser8819Tyr)
c.26435C>A (p.Ser8812Tyr)
c.26426C>A (p.Ser8809Tyr)
c.26420C>A (p.Ser8807Tyr)
c.26408C>A (p.Ser8803Tyr)
c.26405C>A (p.Ser8802Tyr)
c.26366C>A (p.Ser8789Tyr)
c.26351C>A (p.Ser8784Tyr)
c.26336C>A (p.Ser8779Tyr)
c.26324C>A (p.Ser8775Tyr)
c.26321C>A (p.Ser8774Tyr)
c.26318C>A (p.Ser8773Tyr)
c.*141C>A (n.*141C>A)
c.26474C>A (p.Ser8825Tyr)
c.26462C>A (p.Ser8821Tyr)
c.26312C>A (p.Ser8771Tyr)
c.24752C>A (p.Ser8251Tyr)
c.24245C>A (p.Ser8082Tyr)
c.19712C>A (p.Ser6571Tyr)
c.26450C>A (p.Ser8817Tyr)
c.26399C>A (p.Ser8800Tyr)
c.26363C>A (p.Ser8788Tyr)
c.26210C>A (p.Ser8737Tyr)
6g.152122501A>CCA366088647ESR1,SYNE1c.2863T>G (p.Ser955Ala)
c.26329T>G (p.Ser8777Ala)
c.26185T>G (p.Ser8729Ala)
c.1672T>G
c.2047T>G
c.1914T>G
c.2179T>G (n.2179T>G)
c.25114T>G (p.Ser8372Ala)
n.3077T>G
c.5105T>G (n.5105T>G)
n.10021T>G
c.4208T>G (n.4208T>G)
n.9913T>G
c.851-2765A>C (n.851-2765A>C)
n.2943T>G
n.6966T>G
c.2794T>G (p.Ser932Ala)
c.26476T>G (p.Ser8826Ala)
c.26464T>G (p.Ser8822Ala)
c.26455T>G (p.Ser8819Ala)
c.26434T>G (p.Ser8812Ala)
c.26425T>G (p.Ser8809Ala)
c.26419T>G (p.Ser8807Ala)
c.26407T>G (p.Ser8803Ala)
c.26404T>G (p.Ser8802Ala)
c.26365T>G (p.Ser8789Ala)
c.26350T>G (p.Ser8784Ala)
c.26335T>G (p.Ser8779Ala)
c.26323T>G (p.Ser8775Ala)
c.26320T>G (p.Ser8774Ala)
c.26317T>G (p.Ser8773Ala)
c.*140T>G (n.*140T>G)
c.26473T>G (p.Ser8825Ala)
c.26461T>G (p.Ser8821Ala)
c.26311T>G (p.Ser8771Ala)
c.24751T>G (p.Ser8251Ala)
c.24244T>G (p.Ser8082Ala)
c.19711T>G (p.Ser6571Ala)
c.26449T>G (p.Ser8817Ala)
c.26398T>G (p.Ser8800Ala)
c.26362T>G (p.Ser8788Ala)
c.26209T>G (p.Ser8737Ala)
 gnomAD v4
6g.152122501A>GCA366088651ESR1,SYNE1c.2863T>C (p.Ser955Pro)
c.26329T>C (p.Ser8777Pro)
c.26185T>C (p.Ser8729Pro)
c.1672T>C
c.2047T>C
c.1914T>C
c.2179T>C (n.2179T>C)
c.25114T>C (p.Ser8372Pro)
n.3077T>C
c.5105T>C (n.5105T>C)
n.10021T>C
c.4208T>C (n.4208T>C)
n.9913T>C
c.851-2765A>G (n.851-2765A>G)
n.2943T>C
n.6966T>C
c.2794T>C (p.Ser932Pro)
c.26476T>C (p.Ser8826Pro)
c.26464T>C (p.Ser8822Pro)
c.26455T>C (p.Ser8819Pro)
c.26434T>C (p.Ser8812Pro)
c.26425T>C (p.Ser8809Pro)
c.26419T>C (p.Ser8807Pro)
c.26407T>C (p.Ser8803Pro)
c.26404T>C (p.Ser8802Pro)
c.26365T>C (p.Ser8789Pro)
c.26350T>C (p.Ser8784Pro)
c.26335T>C (p.Ser8779Pro)
c.26323T>C (p.Ser8775Pro)
c.26320T>C (p.Ser8774Pro)
c.26317T>C (p.Ser8773Pro)
c.*140T>C (n.*140T>C)
c.26473T>C (p.Ser8825Pro)
c.26461T>C (p.Ser8821Pro)
c.26311T>C (p.Ser8771Pro)
c.24751T>C (p.Ser8251Pro)
c.24244T>C (p.Ser8082Pro)
c.19711T>C (p.Ser6571Pro)
c.26449T>C (p.Ser8817Pro)
c.26398T>C (p.Ser8800Pro)
c.26362T>C (p.Ser8788Pro)
c.26209T>C (p.Ser8737Pro)
6g.152122501A>TCA366088648ESR1,SYNE1c.2863T>A (p.Ser955Thr)
c.26329T>A (p.Ser8777Thr)
c.26185T>A (p.Ser8729Thr)
c.1672T>A
c.2047T>A
c.1914T>A
c.2179T>A (n.2179T>A)
c.25114T>A (p.Ser8372Thr)
n.3077T>A
c.5105T>A (n.5105T>A)
n.10021T>A
c.4208T>A (n.4208T>A)
n.9913T>A
c.851-2765A>T (n.851-2765A>T)
n.2943T>A
n.6966T>A
c.2794T>A (p.Ser932Thr)
c.26476T>A (p.Ser8826Thr)
c.26464T>A (p.Ser8822Thr)
c.26455T>A (p.Ser8819Thr)
c.26434T>A (p.Ser8812Thr)
c.26425T>A (p.Ser8809Thr)
c.26419T>A (p.Ser8807Thr)
c.26407T>A (p.Ser8803Thr)
c.26404T>A (p.Ser8802Thr)
c.26365T>A (p.Ser8789Thr)
c.26350T>A (p.Ser8784Thr)
c.26335T>A (p.Ser8779Thr)
c.26323T>A (p.Ser8775Thr)
c.26320T>A (p.Ser8774Thr)
c.26317T>A (p.Ser8773Thr)
c.*140T>A (n.*140T>A)
c.26473T>A (p.Ser8825Thr)
c.26461T>A (p.Ser8821Thr)
c.26311T>A (p.Ser8771Thr)
c.24751T>A (p.Ser8251Thr)
c.24244T>A (p.Ser8082Thr)
c.19711T>A (p.Ser6571Thr)
c.26449T>A (p.Ser8817Thr)
c.26398T>A (p.Ser8800Thr)
c.26362T>A (p.Ser8788Thr)
c.26209T>A (p.Ser8737Thr)
6g.152122502G>ACA452969583ESR1,SYNE1c.2862C>T (p.Leu954=)
c.26328C>T (p.Leu8776=)
c.26184C>T (p.Leu8728=)
c.1671C>T
c.2046C>T
c.1913C>T
c.2178C>T (n.2178C>T)
c.25113C>T (p.Leu8371=)
n.3076C>T
c.5104C>T (n.5104C>T)
n.10020C>T
c.4207C>T (n.4207C>T)
n.9912C>T
c.851-2764G>A (n.851-2764G>A)
n.2942C>T
n.6965C>T
c.2793C>T (p.Leu931=)
c.26475C>T (p.Leu8825=)
c.26463C>T (p.Leu8821=)
c.26454C>T (p.Leu8818=)
c.26433C>T (p.Leu8811=)
c.26424C>T (p.Leu8808=)
c.26418C>T (p.Leu8806=)
c.26406C>T (p.Leu8802=)
c.26403C>T (p.Leu8801=)
c.26364C>T (p.Leu8788=)
c.26349C>T (p.Leu8783=)
c.26334C>T (p.Leu8778=)
c.26322C>T (p.Leu8774=)
c.26319C>T (p.Leu8773=)
c.26316C>T (p.Leu8772=)
c.*139C>T (n.*139C>T)
c.26472C>T (p.Leu8824=)
c.26460C>T (p.Leu8820=)
c.26310C>T (p.Leu8770=)
c.24750C>T (p.Leu8250=)
c.24243C>T (p.Leu8081=)
c.19710C>T (p.Leu6570=)
c.26448C>T (p.Leu8816=)
c.26397C>T (p.Leu8799=)
c.26361C>T (p.Leu8787=)
c.26208C>T (p.Leu8736=)
 dbSNP gnomAD v3 gnomAD v4
6g.152122502G>CCA452969584ESR1,SYNE1c.2862C>G (p.Leu954=)
c.26328C>G (p.Leu8776=)
c.26184C>G (p.Leu8728=)
c.1671C>G
c.2046C>G
c.1913C>G
c.2178C>G (n.2178C>G)
c.25113C>G (p.Leu8371=)
n.3076C>G
c.5104C>G (n.5104C>G)
n.10020C>G
c.4207C>G (n.4207C>G)
n.9912C>G
c.851-2764G>C (n.851-2764G>C)
n.2942C>G
n.6965C>G
c.2793C>G (p.Leu931=)
c.26475C>G (p.Leu8825=)
c.26463C>G (p.Leu8821=)
c.26454C>G (p.Leu8818=)
c.26433C>G (p.Leu8811=)
c.26424C>G (p.Leu8808=)
c.26418C>G (p.Leu8806=)
c.26406C>G (p.Leu8802=)
c.26403C>G (p.Leu8801=)
c.26364C>G (p.Leu8788=)
c.26349C>G (p.Leu8783=)
c.26334C>G (p.Leu8778=)
c.26322C>G (p.Leu8774=)
c.26319C>G (p.Leu8773=)
c.26316C>G (p.Leu8772=)
c.*139C>G (n.*139C>G)
c.26472C>G (p.Leu8824=)
c.26460C>G (p.Leu8820=)
c.26310C>G (p.Leu8770=)
c.24750C>G (p.Leu8250=)
c.24243C>G (p.Leu8081=)
c.19710C>G (p.Leu6570=)
c.26448C>G (p.Leu8816=)
c.26397C>G (p.Leu8799=)
c.26361C>G (p.Leu8787=)
c.26208C>G (p.Leu8736=)
 gnomAD v4
6g.152122502G=CA1673188890ESR1,SYNE1c.2862C= (p.Leu954=)
c.26328C= (p.Leu8776=)
c.26184C= (p.Leu8728=)
c.1671C=
c.2046C=
c.1913C=
c.2178C= (n.2178C=)
c.25113C= (p.Leu8371=)
n.3076C=
c.5104C= (n.5104C=)
n.10020C=
c.4207C= (n.4207C=)
n.9912C=
c.851-2764G= (n.851-2764G=)
n.2942C=
n.6965C=
c.2793C= (p.Leu931=)
c.26475C= (p.Leu8825=)
c.26463C= (p.Leu8821=)
c.26454C= (p.Leu8818=)
c.26433C= (p.Leu8811=)
c.26424C= (p.Leu8808=)
c.26418C= (p.Leu8806=)
c.26406C= (p.Leu8802=)
c.26403C= (p.Leu8801=)
c.26364C= (p.Leu8788=)
c.26349C= (p.Leu8783=)
c.26334C= (p.Leu8778=)
c.26322C= (p.Leu8774=)
c.26319C= (p.Leu8773=)
c.26316C= (p.Leu8772=)
c.*139C= (n.*139C=)
c.26472C= (p.Leu8824=)
c.26460C= (p.Leu8820=)
c.26310C= (p.Leu8770=)
c.24750C= (p.Leu8250=)
c.24243C= (p.Leu8081=)
c.19710C= (p.Leu6570=)
c.26448C= (p.Leu8816=)
c.26397C= (p.Leu8799=)
c.26361C= (p.Leu8787=)
c.26208C= (p.Leu8736=)
6g.152122502G>TCA452969585ESR1,SYNE1c.2862C>A (p.Leu954=)
c.26328C>A (p.Leu8776=)
c.26184C>A (p.Leu8728=)
c.1671C>A
c.2046C>A
c.1913C>A
c.2178C>A (n.2178C>A)
c.25113C>A (p.Leu8371=)
n.3076C>A
c.5104C>A (n.5104C>A)
n.10020C>A
c.4207C>A (n.4207C>A)
n.9912C>A
c.851-2764G>T (n.851-2764G>T)
n.2942C>A
n.6965C>A
c.2793C>A (p.Leu931=)
c.26475C>A (p.Leu8825=)
c.26463C>A (p.Leu8821=)
c.26454C>A (p.Leu8818=)
c.26433C>A (p.Leu8811=)
c.26424C>A (p.Leu8808=)
c.26418C>A (p.Leu8806=)
c.26406C>A (p.Leu8802=)
c.26403C>A (p.Leu8801=)
c.26364C>A (p.Leu8788=)
c.26349C>A (p.Leu8783=)
c.26334C>A (p.Leu8778=)
c.26322C>A (p.Leu8774=)
c.26319C>A (p.Leu8773=)
c.26316C>A (p.Leu8772=)
c.*139C>A (n.*139C>A)
c.26472C>A (p.Leu8824=)
c.26460C>A (p.Leu8820=)
c.26310C>A (p.Leu8770=)
c.24750C>A (p.Leu8250=)
c.24243C>A (p.Leu8081=)
c.19710C>A (p.Leu6570=)
c.26448C>A (p.Leu8816=)
c.26397C>A (p.Leu8799=)
c.26361C>A (p.Leu8787=)
c.26208C>A (p.Leu8736=)
6g.152122503A>CCA366088653ESR1,SYNE1c.2861T>G (p.Leu954Arg)
c.26327T>G (p.Leu8776Arg)
c.26183T>G (p.Leu8728Arg)
c.1670T>G
c.2045T>G
c.1912T>G
c.2177T>G (n.2177T>G)
c.25112T>G (p.Leu8371Arg)
n.3075T>G
c.5103T>G (n.5103T>G)
n.10019T>G
c.4206T>G (n.4206T>G)
n.9911T>G
c.851-2763A>C (n.851-2763A>C)
n.2941T>G
n.6964T>G
c.2792T>G (p.Leu931Arg)
c.26474T>G (p.Leu8825Arg)
c.26462T>G (p.Leu8821Arg)
c.26453T>G (p.Leu8818Arg)
c.26432T>G (p.Leu8811Arg)
c.26423T>G (p.Leu8808Arg)
c.26417T>G (p.Leu8806Arg)
c.26405T>G (p.Leu8802Arg)
c.26402T>G (p.Leu8801Arg)
c.26363T>G (p.Leu8788Arg)
c.26348T>G (p.Leu8783Arg)
c.26333T>G (p.Leu8778Arg)
c.26321T>G (p.Leu8774Arg)
c.26318T>G (p.Leu8773Arg)
c.26315T>G (p.Leu8772Arg)
c.*138T>G (n.*138T>G)
c.26471T>G (p.Leu8824Arg)
c.26459T>G (p.Leu8820Arg)
c.26309T>G (p.Leu8770Arg)
c.24749T>G (p.Leu8250Arg)
c.24242T>G (p.Leu8081Arg)
c.19709T>G (p.Leu6570Arg)
c.26447T>G (p.Leu8816Arg)
c.26396T>G (p.Leu8799Arg)
c.26360T>G (p.Leu8787Arg)
c.26207T>G (p.Leu8736Arg)
6g.152122503A>GCA366088656ESR1,SYNE1c.2861T>C (p.Leu954Pro)
c.26327T>C (p.Leu8776Pro)
c.26183T>C (p.Leu8728Pro)
c.1670T>C
c.2045T>C
c.1912T>C
c.2177T>C (n.2177T>C)
c.25112T>C (p.Leu8371Pro)
n.3075T>C
c.5103T>C (n.5103T>C)
n.10019T>C
c.4206T>C (n.4206T>C)
n.9911T>C
c.851-2763A>G (n.851-2763A>G)
n.2941T>C
n.6964T>C
c.2792T>C (p.Leu931Pro)
c.26474T>C (p.Leu8825Pro)
c.26462T>C (p.Leu8821Pro)
c.26453T>C (p.Leu8818Pro)
c.26432T>C (p.Leu8811Pro)
c.26423T>C (p.Leu8808Pro)
c.26417T>C (p.Leu8806Pro)
c.26405T>C (p.Leu8802Pro)
c.26402T>C (p.Leu8801Pro)
c.26363T>C (p.Leu8788Pro)
c.26348T>C (p.Leu8783Pro)
c.26333T>C (p.Leu8778Pro)
c.26321T>C (p.Leu8774Pro)
c.26318T>C (p.Leu8773Pro)
c.26315T>C (p.Leu8772Pro)
c.*138T>C (n.*138T>C)
c.26471T>C (p.Leu8824Pro)
c.26459T>C (p.Leu8820Pro)
c.26309T>C (p.Leu8770Pro)
c.24749T>C (p.Leu8250Pro)
c.24242T>C (p.Leu8081Pro)
c.19709T>C (p.Leu6570Pro)
c.26447T>C (p.Leu8816Pro)
c.26396T>C (p.Leu8799Pro)
c.26360T>C (p.Leu8787Pro)
c.26207T>C (p.Leu8736Pro)
6g.152122503A>TCA366088657ESR1,SYNE1c.2861T>A (p.Leu954His)
c.26327T>A (p.Leu8776His)
c.26183T>A (p.Leu8728His)
c.1670T>A
c.2045T>A
c.1912T>A
c.2177T>A (n.2177T>A)
c.25112T>A (p.Leu8371His)
n.3075T>A
c.5103T>A (n.5103T>A)
n.10019T>A
c.4206T>A (n.4206T>A)
n.9911T>A
c.851-2763A>T (n.851-2763A>T)
n.2941T>A
n.6964T>A
c.2792T>A (p.Leu931His)
c.26474T>A (p.Leu8825His)
c.26462T>A (p.Leu8821His)
c.26453T>A (p.Leu8818His)
c.26432T>A (p.Leu8811His)
c.26423T>A (p.Leu8808His)
c.26417T>A (p.Leu8806His)
c.26405T>A (p.Leu8802His)
c.26402T>A (p.Leu8801His)
c.26363T>A (p.Leu8788His)
c.26348T>A (p.Leu8783His)
c.26333T>A (p.Leu8778His)
c.26321T>A (p.Leu8774His)
c.26318T>A (p.Leu8773His)
c.26315T>A (p.Leu8772His)
c.*138T>A (n.*138T>A)
c.26471T>A (p.Leu8824His)
c.26459T>A (p.Leu8820His)
c.26309T>A (p.Leu8770His)
c.24749T>A (p.Leu8250His)
c.24242T>A (p.Leu8081His)
c.19709T>A (p.Leu6570His)
c.26447T>A (p.Leu8816His)
c.26396T>A (p.Leu8799His)
c.26360T>A (p.Leu8787His)
c.26207T>A (p.Leu8736His)
6g.152122504G>ACA366088658ESR1,SYNE1c.2860C>T (p.Leu954Phe)
c.26326C>T (p.Leu8776Phe)
c.26182C>T (p.Leu8728Phe)
c.1669C>T
c.2044C>T
c.1911C>T
c.2176C>T (n.2176C>T)
c.25111C>T (p.Leu8371Phe)
n.3074C>T
c.5102C>T (n.5102C>T)
n.10018C>T
c.4205C>T (n.4205C>T)
n.9910C>T
c.851-2762G>A (n.851-2762G>A)
n.2940C>T
n.6963C>T
c.2791C>T (p.Leu931Phe)
c.26473C>T (p.Leu8825Phe)
c.26461C>T (p.Leu8821Phe)
c.26452C>T (p.Leu8818Phe)
c.26431C>T (p.Leu8811Phe)
c.26422C>T (p.Leu8808Phe)
c.26416C>T (p.Leu8806Phe)
c.26404C>T (p.Leu8802Phe)
c.26401C>T (p.Leu8801Phe)
c.26362C>T (p.Leu8788Phe)
c.26347C>T (p.Leu8783Phe)
c.26332C>T (p.Leu8778Phe)
c.26320C>T (p.Leu8774Phe)
c.26317C>T (p.Leu8773Phe)
c.26314C>T (p.Leu8772Phe)
c.*137C>T (n.*137C>T)
c.26470C>T (p.Leu8824Phe)
c.26458C>T (p.Leu8820Phe)
c.26308C>T (p.Leu8770Phe)
c.24748C>T (p.Leu8250Phe)
c.24241C>T (p.Leu8081Phe)
c.19708C>T (p.Leu6570Phe)
c.26446C>T (p.Leu8816Phe)
c.26395C>T (p.Leu8799Phe)
c.26359C>T (p.Leu8787Phe)
c.26206C>T (p.Leu8736Phe)
6g.152122504G>CCA366088659ESR1,SYNE1c.2860C>G (p.Leu954Val)
c.26326C>G (p.Leu8776Val)
c.26182C>G (p.Leu8728Val)
c.1669C>G
c.2044C>G
c.1911C>G
c.2176C>G (n.2176C>G)
c.25111C>G (p.Leu8371Val)
n.3074C>G
c.5102C>G (n.5102C>G)
n.10018C>G
c.4205C>G (n.4205C>G)
n.9910C>G
c.851-2762G>C (n.851-2762G>C)
n.2940C>G
n.6963C>G
c.2791C>G (p.Leu931Val)
c.26473C>G (p.Leu8825Val)
c.26461C>G (p.Leu8821Val)
c.26452C>G (p.Leu8818Val)
c.26431C>G (p.Leu8811Val)
c.26422C>G (p.Leu8808Val)
c.26416C>G (p.Leu8806Val)
c.26404C>G (p.Leu8802Val)
c.26401C>G (p.Leu8801Val)
c.26362C>G (p.Leu8788Val)
c.26347C>G (p.Leu8783Val)
c.26332C>G (p.Leu8778Val)
c.26320C>G (p.Leu8774Val)
c.26317C>G (p.Leu8773Val)
c.26314C>G (p.Leu8772Val)
c.*137C>G (n.*137C>G)
c.26470C>G (p.Leu8824Val)
c.26458C>G (p.Leu8820Val)
c.26308C>G (p.Leu8770Val)
c.24748C>G (p.Leu8250Val)
c.24241C>G (p.Leu8081Val)
c.19708C>G (p.Leu6570Val)
c.26446C>G (p.Leu8816Val)
c.26395C>G (p.Leu8799Val)
c.26359C>G (p.Leu8787Val)
c.26206C>G (p.Leu8736Val)
6g.152122504G>TCA366088660ESR1,SYNE1c.2860C>A (p.Leu954Ile)
c.26326C>A (p.Leu8776Ile)
c.26182C>A (p.Leu8728Ile)
c.1669C>A
c.2044C>A
c.1911C>A
c.2176C>A (n.2176C>A)
c.25111C>A (p.Leu8371Ile)
n.3074C>A
c.5102C>A (n.5102C>A)
n.10018C>A
c.4205C>A (n.4205C>A)
n.9910C>A
c.851-2762G>T (n.851-2762G>T)
n.2940C>A
n.6963C>A
c.2791C>A (p.Leu931Ile)
c.26473C>A (p.Leu8825Ile)
c.26461C>A (p.Leu8821Ile)
c.26452C>A (p.Leu8818Ile)
c.26431C>A (p.Leu8811Ile)
c.26422C>A (p.Leu8808Ile)
c.26416C>A (p.Leu8806Ile)
c.26404C>A (p.Leu8802Ile)
c.26401C>A (p.Leu8801Ile)
c.26362C>A (p.Leu8788Ile)
c.26347C>A (p.Leu8783Ile)
c.26332C>A (p.Leu8778Ile)
c.26320C>A (p.Leu8774Ile)
c.26317C>A (p.Leu8773Ile)
c.26314C>A (p.Leu8772Ile)
c.*137C>A (n.*137C>A)
c.26470C>A (p.Leu8824Ile)
c.26458C>A (p.Leu8820Ile)
c.26308C>A (p.Leu8770Ile)
c.24748C>A (p.Leu8250Ile)
c.24241C>A (p.Leu8081Ile)
c.19708C>A (p.Leu6570Ile)
c.26446C>A (p.Leu8816Ile)
c.26395C>A (p.Leu8799Ile)
c.26359C>A (p.Leu8787Ile)
c.26206C>A (p.Leu8736Ile)
6g.152122505G>ACA452969591ESR1,SYNE1c.2859C>T (p.Ala953=)
c.26325C>T (p.Ala8775=)
c.26181C>T (p.Ala8727=)
c.1668C>T
c.2043C>T
c.1910C>T
c.2175C>T (n.2175C>T)
c.25110C>T (p.Ala8370=)
n.3073C>T
c.5101C>T (n.5101C>T)
n.10017C>T
c.4204C>T (n.4204C>T)
n.9909C>T
c.851-2761G>A (n.851-2761G>A)
n.2939C>T
n.6962C>T
c.2790C>T (p.Ala930=)
c.26472C>T (p.Ala8824=)
c.26460C>T (p.Ala8820=)
c.26451C>T (p.Ala8817=)
c.26430C>T (p.Ala8810=)
c.26421C>T (p.Ala8807=)
c.26415C>T (p.Ala8805=)
c.26403C>T (p.Ala8801=)
c.26400C>T (p.Ala8800=)
c.26361C>T (p.Ala8787=)
c.26346C>T (p.Ala8782=)
c.26331C>T (p.Ala8777=)
c.26319C>T (p.Ala8773=)
c.26316C>T (p.Ala8772=)
c.26313C>T (p.Ala8771=)
c.*136C>T (n.*136C>T)
c.26469C>T (p.Ala8823=)
c.26457C>T (p.Ala8819=)
c.26307C>T (p.Ala8769=)
c.24747C>T (p.Ala8249=)
c.24240C>T (p.Ala8080=)
c.19707C>T (p.Ala6569=)
c.26445C>T (p.Ala8815=)
c.26394C>T (p.Ala8798=)
c.26358C>T (p.Ala8786=)
c.26205C>T (p.Ala8735=)
6g.152122505G>CCA452969593ESR1,SYNE1c.2859C>G (p.Ala953=)
c.26325C>G (p.Ala8775=)
c.26181C>G (p.Ala8727=)
c.1668C>G
c.2043C>G
c.1910C>G
c.2175C>G (n.2175C>G)
c.25110C>G (p.Ala8370=)
n.3073C>G
c.5101C>G (n.5101C>G)
n.10017C>G
c.4204C>G (n.4204C>G)
n.9909C>G
c.851-2761G>C (n.851-2761G>C)
n.2939C>G
n.6962C>G
c.2790C>G (p.Ala930=)
c.26472C>G (p.Ala8824=)
c.26460C>G (p.Ala8820=)
c.26451C>G (p.Ala8817=)
c.26430C>G (p.Ala8810=)
c.26421C>G (p.Ala8807=)
c.26415C>G (p.Ala8805=)
c.26403C>G (p.Ala8801=)
c.26400C>G (p.Ala8800=)
c.26361C>G (p.Ala8787=)
c.26346C>G (p.Ala8782=)
c.26331C>G (p.Ala8777=)
c.26319C>G (p.Ala8773=)
c.26316C>G (p.Ala8772=)
c.26313C>G (p.Ala8771=)
c.*136C>G (n.*136C>G)
c.26469C>G (p.Ala8823=)
c.26457C>G (p.Ala8819=)
c.26307C>G (p.Ala8769=)
c.24747C>G (p.Ala8249=)
c.24240C>G (p.Ala8080=)
c.19707C>G (p.Ala6569=)
c.26445C>G (p.Ala8815=)
c.26394C>G (p.Ala8798=)
c.26358C>G (p.Ala8786=)
c.26205C>G (p.Ala8735=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152122505G=CA1673188896ESR1,SYNE1c.2859C= (p.Ala953=)
c.26325C= (p.Ala8775=)
c.26181C= (p.Ala8727=)
c.1668C=
c.2043C=
c.1910C=
c.2175C= (n.2175C=)
c.25110C= (p.Ala8370=)
n.3073C=
c.5101C= (n.5101C=)
n.10017C=
c.4204C= (n.4204C=)
n.9909C=
c.851-2761G= (n.851-2761G=)
n.2939C=
n.6962C=
c.2790C= (p.Ala930=)
c.26472C= (p.Ala8824=)
c.26460C= (p.Ala8820=)
c.26451C= (p.Ala8817=)
c.26430C= (p.Ala8810=)
c.26421C= (p.Ala8807=)
c.26415C= (p.Ala8805=)
c.26403C= (p.Ala8801=)
c.26400C= (p.Ala8800=)
c.26361C= (p.Ala8787=)
c.26346C= (p.Ala8782=)
c.26331C= (p.Ala8777=)
c.26319C= (p.Ala8773=)
c.26316C= (p.Ala8772=)
c.26313C= (p.Ala8771=)
c.*136C= (n.*136C=)
c.26469C= (p.Ala8823=)
c.26457C= (p.Ala8819=)
c.26307C= (p.Ala8769=)
c.24747C= (p.Ala8249=)
c.24240C= (p.Ala8080=)
c.19707C= (p.Ala6569=)
c.26445C= (p.Ala8815=)
c.26394C= (p.Ala8798=)
c.26358C= (p.Ala8786=)
c.26205C= (p.Ala8735=)
6g.152122505G>TCA452969594ESR1,SYNE1c.2859C>A (p.Ala953=)
c.26325C>A (p.Ala8775=)
c.26181C>A (p.Ala8727=)
c.1668C>A
c.2043C>A
c.1910C>A
c.2175C>A (n.2175C>A)
c.25110C>A (p.Ala8370=)
n.3073C>A
c.5101C>A (n.5101C>A)
n.10017C>A
c.4204C>A (n.4204C>A)
n.9909C>A
c.851-2761G>T (n.851-2761G>T)
n.2939C>A
n.6962C>A
c.2790C>A (p.Ala930=)
c.26472C>A (p.Ala8824=)
c.26460C>A (p.Ala8820=)
c.26451C>A (p.Ala8817=)
c.26430C>A (p.Ala8810=)
c.26421C>A (p.Ala8807=)
c.26415C>A (p.Ala8805=)
c.26403C>A (p.Ala8801=)
c.26400C>A (p.Ala8800=)
c.26361C>A (p.Ala8787=)
c.26346C>A (p.Ala8782=)
c.26331C>A (p.Ala8777=)
c.26319C>A (p.Ala8773=)
c.26316C>A (p.Ala8772=)
c.26313C>A (p.Ala8771=)
c.*136C>A (n.*136C>A)
c.26469C>A (p.Ala8823=)
c.26457C>A (p.Ala8819=)
c.26307C>A (p.Ala8769=)
c.24747C>A (p.Ala8249=)
c.24240C>A (p.Ala8080=)
c.19707C>A (p.Ala6569=)
c.26445C>A (p.Ala8815=)
c.26394C>A (p.Ala8798=)
c.26358C>A (p.Ala8786=)
c.26205C>A (p.Ala8735=)
6g.152122506G>ACA366088662ESR1,SYNE1c.2858C>T (p.Ala953Val)
c.26324C>T (p.Ala8775Val)
c.26180C>T (p.Ala8727Val)
c.1667C>T
c.2042C>T
c.1909C>T
c.2174C>T (n.2174C>T)
c.25109C>T (p.Ala8370Val)
n.3072C>T
c.5100C>T (n.5100C>T)
n.10016C>T
c.4203C>T (n.4203C>T)
n.9908C>T
c.851-2760G>A (n.851-2760G>A)
n.2938C>T
n.6961C>T
c.2789C>T (p.Ala930Val)
c.26471C>T (p.Ala8824Val)
c.26459C>T (p.Ala8820Val)
c.26450C>T (p.Ala8817Val)
c.26429C>T (p.Ala8810Val)
c.26420C>T (p.Ala8807Val)
c.26414C>T (p.Ala8805Val)
c.26402C>T (p.Ala8801Val)
c.26399C>T (p.Ala8800Val)
c.26360C>T (p.Ala8787Val)
c.26345C>T (p.Ala8782Val)
c.26330C>T (p.Ala8777Val)
c.26318C>T (p.Ala8773Val)
c.26315C>T (p.Ala8772Val)
c.26312C>T (p.Ala8771Val)
c.*135C>T (n.*135C>T)
c.26468C>T (p.Ala8823Val)
c.26456C>T (p.Ala8819Val)
c.26306C>T (p.Ala8769Val)
c.24746C>T (p.Ala8249Val)
c.24239C>T (p.Ala8080Val)
c.19706C>T (p.Ala6569Val)
c.26444C>T (p.Ala8815Val)
c.26393C>T (p.Ala8798Val)
c.26357C>T (p.Ala8786Val)
c.26204C>T (p.Ala8735Val)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122506G>CCA366088664ESR1,SYNE1c.2858C>G (p.Ala953Gly)
c.26324C>G (p.Ala8775Gly)
c.26180C>G (p.Ala8727Gly)
c.1667C>G
c.2042C>G
c.1909C>G
c.2174C>G (n.2174C>G)
c.25109C>G (p.Ala8370Gly)
n.3072C>G
c.5100C>G (n.5100C>G)
n.10016C>G
c.4203C>G (n.4203C>G)
n.9908C>G
c.851-2760G>C (n.851-2760G>C)
n.2938C>G
n.6961C>G
c.2789C>G (p.Ala930Gly)
c.26471C>G (p.Ala8824Gly)
c.26459C>G (p.Ala8820Gly)
c.26450C>G (p.Ala8817Gly)
c.26429C>G (p.Ala8810Gly)
c.26420C>G (p.Ala8807Gly)
c.26414C>G (p.Ala8805Gly)
c.26402C>G (p.Ala8801Gly)
c.26399C>G (p.Ala8800Gly)
c.26360C>G (p.Ala8787Gly)
c.26345C>G (p.Ala8782Gly)
c.26330C>G (p.Ala8777Gly)
c.26318C>G (p.Ala8773Gly)
c.26315C>G (p.Ala8772Gly)
c.26312C>G (p.Ala8771Gly)
c.*135C>G (n.*135C>G)
c.26468C>G (p.Ala8823Gly)
c.26456C>G (p.Ala8819Gly)
c.26306C>G (p.Ala8769Gly)
c.24746C>G (p.Ala8249Gly)
c.24239C>G (p.Ala8080Gly)
c.19706C>G (p.Ala6569Gly)
c.26444C>G (p.Ala8815Gly)
c.26393C>G (p.Ala8798Gly)
c.26357C>G (p.Ala8786Gly)
c.26204C>G (p.Ala8735Gly)
6g.152122506G>TCA366088666ESR1,SYNE1c.2858C>A (p.Ala953Asp)
c.26324C>A (p.Ala8775Asp)
c.26180C>A (p.Ala8727Asp)
c.1667C>A
c.2042C>A
c.1909C>A
c.2174C>A (n.2174C>A)
c.25109C>A (p.Ala8370Asp)
n.3072C>A
c.5100C>A (n.5100C>A)
n.10016C>A
c.4203C>A (n.4203C>A)
n.9908C>A
c.851-2760G>T (n.851-2760G>T)
n.2938C>A
n.6961C>A
c.2789C>A (p.Ala930Asp)
c.26471C>A (p.Ala8824Asp)
c.26459C>A (p.Ala8820Asp)
c.26450C>A (p.Ala8817Asp)
c.26429C>A (p.Ala8810Asp)
c.26420C>A (p.Ala8807Asp)
c.26414C>A (p.Ala8805Asp)
c.26402C>A (p.Ala8801Asp)
c.26399C>A (p.Ala8800Asp)
c.26360C>A (p.Ala8787Asp)
c.26345C>A (p.Ala8782Asp)
c.26330C>A (p.Ala8777Asp)
c.26318C>A (p.Ala8773Asp)
c.26315C>A (p.Ala8772Asp)
c.26312C>A (p.Ala8771Asp)
c.*135C>A (n.*135C>A)
c.26468C>A (p.Ala8823Asp)
c.26456C>A (p.Ala8819Asp)
c.26306C>A (p.Ala8769Asp)
c.24746C>A (p.Ala8249Asp)
c.24239C>A (p.Ala8080Asp)
c.19706C>A (p.Ala6569Asp)
c.26444C>A (p.Ala8815Asp)
c.26393C>A (p.Ala8798Asp)
c.26357C>A (p.Ala8786Asp)
c.26204C>A (p.Ala8735Asp)
6g.152122507C>ACA366088668ESR1,SYNE1c.2857G>T (p.Ala953Ser)
c.26323G>T (p.Ala8775Ser)
c.26179G>T (p.Ala8727Ser)
c.1666G>T
c.2041G>T
c.1908G>T
c.2173G>T (n.2173G>T)
c.25108G>T (p.Ala8370Ser)
n.3071G>T
c.5099G>T (n.5099G>T)
n.10015G>T
c.4202G>T (n.4202G>T)
n.9907G>T
c.851-2759C>A (n.851-2759C>A)
n.2937G>T
n.6960G>T
c.2788G>T (p.Ala930Ser)
c.26470G>T (p.Ala8824Ser)
c.26458G>T (p.Ala8820Ser)
c.26449G>T (p.Ala8817Ser)
c.26428G>T (p.Ala8810Ser)
c.26419G>T (p.Ala8807Ser)
c.26413G>T (p.Ala8805Ser)
c.26401G>T (p.Ala8801Ser)
c.26398G>T (p.Ala8800Ser)
c.26359G>T (p.Ala8787Ser)
c.26344G>T (p.Ala8782Ser)
c.26329G>T (p.Ala8777Ser)
c.26317G>T (p.Ala8773Ser)
c.26314G>T (p.Ala8772Ser)
c.26311G>T (p.Ala8771Ser)
c.*134G>T (n.*134G>T)
c.26467G>T (p.Ala8823Ser)
c.26455G>T (p.Ala8819Ser)
c.26305G>T (p.Ala8769Ser)
c.24745G>T (p.Ala8249Ser)
c.24238G>T (p.Ala8080Ser)
c.19705G>T (p.Ala6569Ser)
c.26443G>T (p.Ala8815Ser)
c.26392G>T (p.Ala8798Ser)
c.26356G>T (p.Ala8786Ser)
c.26203G>T (p.Ala8735Ser)
6g.152122507C=CA1673188899ESR1,SYNE1c.2857G= (p.Ala953=)
c.26323G= (p.Ala8775=)
c.26179G= (p.Ala8727=)
c.1666G=
c.2041G=
c.1908G=
c.2173G= (n.2173G=)
c.25108G= (p.Ala8370=)
n.3071G=
c.5099G= (n.5099G=)
n.10015G=
c.4202G= (n.4202G=)
n.9907G=
c.851-2759C= (n.851-2759C=)
n.2937G=
n.6960G=
c.2788G= (p.Ala930=)
c.26470G= (p.Ala8824=)
c.26458G= (p.Ala8820=)
c.26449G= (p.Ala8817=)
c.26428G= (p.Ala8810=)
c.26419G= (p.Ala8807=)
c.26413G= (p.Ala8805=)
c.26401G= (p.Ala8801=)
c.26398G= (p.Ala8800=)
c.26359G= (p.Ala8787=)
c.26344G= (p.Ala8782=)
c.26329G= (p.Ala8777=)
c.26317G= (p.Ala8773=)
c.26314G= (p.Ala8772=)
c.26311G= (p.Ala8771=)
c.*134G= (n.*134G=)
c.26467G= (p.Ala8823=)
c.26455G= (p.Ala8819=)
c.26305G= (p.Ala8769=)
c.24745G= (p.Ala8249=)
c.24238G= (p.Ala8080=)
c.19705G= (p.Ala6569=)
c.26443G= (p.Ala8815=)
c.26392G= (p.Ala8798=)
c.26356G= (p.Ala8786=)
c.26203G= (p.Ala8735=)
6g.152122507C>GCA366088670ESR1,SYNE1c.2857G>C (p.Ala953Pro)
c.26323G>C (p.Ala8775Pro)
c.26179G>C (p.Ala8727Pro)
c.1666G>C
c.2041G>C
c.1908G>C
c.2173G>C (n.2173G>C)
c.25108G>C (p.Ala8370Pro)
n.3071G>C
c.5099G>C (n.5099G>C)
n.10015G>C
c.4202G>C (n.4202G>C)
n.9907G>C
c.851-2759C>G (n.851-2759C>G)
n.2937G>C
n.6960G>C
c.2788G>C (p.Ala930Pro)
c.26470G>C (p.Ala8824Pro)
c.26458G>C (p.Ala8820Pro)
c.26449G>C (p.Ala8817Pro)
c.26428G>C (p.Ala8810Pro)
c.26419G>C (p.Ala8807Pro)
c.26413G>C (p.Ala8805Pro)
c.26401G>C (p.Ala8801Pro)
c.26398G>C (p.Ala8800Pro)
c.26359G>C (p.Ala8787Pro)
c.26344G>C (p.Ala8782Pro)
c.26329G>C (p.Ala8777Pro)
c.26317G>C (p.Ala8773Pro)
c.26314G>C (p.Ala8772Pro)
c.26311G>C (p.Ala8771Pro)
c.*134G>C (n.*134G>C)
c.26467G>C (p.Ala8823Pro)
c.26455G>C (p.Ala8819Pro)
c.26305G>C (p.Ala8769Pro)
c.24745G>C (p.Ala8249Pro)
c.24238G>C (p.Ala8080Pro)
c.19705G>C (p.Ala6569Pro)
c.26443G>C (p.Ala8815Pro)
c.26392G>C (p.Ala8798Pro)
c.26356G>C (p.Ala8786Pro)
c.26203G>C (p.Ala8735Pro)
6g.152122507C>TCA366088672ESR1,SYNE1c.2857G>A (p.Ala953Thr)
c.26323G>A (p.Ala8775Thr)
c.26179G>A (p.Ala8727Thr)
c.1666G>A
c.2041G>A
c.1908G>A
c.2173G>A (n.2173G>A)
c.25108G>A (p.Ala8370Thr)
n.3071G>A
c.5099G>A (n.5099G>A)
n.10015G>A
c.4202G>A (n.4202G>A)
n.9907G>A
c.851-2759C>T (n.851-2759C>T)
n.2937G>A
n.6960G>A
c.2788G>A (p.Ala930Thr)
c.26470G>A (p.Ala8824Thr)
c.26458G>A (p.Ala8820Thr)
c.26449G>A (p.Ala8817Thr)
c.26428G>A (p.Ala8810Thr)
c.26419G>A (p.Ala8807Thr)
c.26413G>A (p.Ala8805Thr)
c.26401G>A (p.Ala8801Thr)
c.26398G>A (p.Ala8800Thr)
c.26359G>A (p.Ala8787Thr)
c.26344G>A (p.Ala8782Thr)
c.26329G>A (p.Ala8777Thr)
c.26317G>A (p.Ala8773Thr)
c.26314G>A (p.Ala8772Thr)
c.26311G>A (p.Ala8771Thr)
c.*134G>A (n.*134G>A)
c.26467G>A (p.Ala8823Thr)
c.26455G>A (p.Ala8819Thr)
c.26305G>A (p.Ala8769Thr)
c.24745G>A (p.Ala8249Thr)
c.24238G>A (p.Ala8080Thr)
c.19705G>A (p.Ala6569Thr)
c.26443G>A (p.Ala8815Thr)
c.26392G>A (p.Ala8798Thr)
c.26356G>A (p.Ala8786Thr)
c.26203G>A (p.Ala8735Thr)
 dbSNP
6g.152122508A>CCA366088676ESR1,SYNE1c.2856T>G (p.Cys952Trp)
c.26322T>G (p.Cys8774Trp)
c.26178T>G (p.Cys8726Trp)
c.1665T>G
c.2040T>G
c.1907T>G
c.2172T>G (n.2172T>G)
c.25107T>G (p.Cys8369Trp)
n.3070T>G
c.5098T>G (n.5098T>G)
n.10014T>G
c.4201T>G (n.4201T>G)
n.9906T>G
c.851-2758A>C (n.851-2758A>C)
n.2936T>G
n.6959T>G
c.2787T>G (p.Cys929Trp)
c.26469T>G (p.Cys8823Trp)
c.26457T>G (p.Cys8819Trp)
c.26448T>G (p.Cys8816Trp)
c.26427T>G (p.Cys8809Trp)
c.26418T>G (p.Cys8806Trp)
c.26412T>G (p.Cys8804Trp)
c.26400T>G (p.Cys8800Trp)
c.26397T>G (p.Cys8799Trp)
c.26358T>G (p.Cys8786Trp)
c.26343T>G (p.Cys8781Trp)
c.26328T>G (p.Cys8776Trp)
c.26316T>G (p.Cys8772Trp)
c.26313T>G (p.Cys8771Trp)
c.26310T>G (p.Cys8770Trp)
c.*133T>G (n.*133T>G)
c.26466T>G (p.Cys8822Trp)
c.26454T>G (p.Cys8818Trp)
c.26304T>G (p.Cys8768Trp)
c.24744T>G (p.Cys8248Trp)
c.24237T>G (p.Cys8079Trp)
c.19704T>G (p.Cys6568Trp)
c.26442T>G (p.Cys8814Trp)
c.26391T>G (p.Cys8797Trp)
c.26355T>G (p.Cys8785Trp)
c.26202T>G (p.Cys8734Trp)
6g.152122508A>GCA452969599ESR1,SYNE1c.2856T>C (p.Cys952=)
c.26322T>C (p.Cys8774=)
c.26178T>C (p.Cys8726=)
c.1665T>C
c.2040T>C
c.1907T>C
c.2172T>C (n.2172T>C)
c.25107T>C (p.Cys8369=)
n.3070T>C
c.5098T>C (n.5098T>C)
n.10014T>C
c.4201T>C (n.4201T>C)
n.9906T>C
c.851-2758A>G (n.851-2758A>G)
n.2936T>C
n.6959T>C
c.2787T>C (p.Cys929=)
c.26469T>C (p.Cys8823=)
c.26457T>C (p.Cys8819=)
c.26448T>C (p.Cys8816=)
c.26427T>C (p.Cys8809=)
c.26418T>C (p.Cys8806=)
c.26412T>C (p.Cys8804=)
c.26400T>C (p.Cys8800=)
c.26397T>C (p.Cys8799=)
c.26358T>C (p.Cys8786=)
c.26343T>C (p.Cys8781=)
c.26328T>C (p.Cys8776=)
c.26316T>C (p.Cys8772=)
c.26313T>C (p.Cys8771=)
c.26310T>C (p.Cys8770=)
c.*133T>C (n.*133T>C)
c.26466T>C (p.Cys8822=)
c.26454T>C (p.Cys8818=)
c.26304T>C (p.Cys8768=)
c.24744T>C (p.Cys8248=)
c.24237T>C (p.Cys8079=)
c.19704T>C (p.Cys6568=)
c.26442T>C (p.Cys8814=)
c.26391T>C (p.Cys8797=)
c.26355T>C (p.Cys8785=)
c.26202T>C (p.Cys8734=)
 gnomAD v4
6g.152122508A>TCA366088674ESR1,SYNE1c.2856T>A (p.Cys952Ter)
c.26322T>A (p.Cys8774Ter)
c.26178T>A (p.Cys8726Ter)
c.1665T>A
c.2040T>A
c.1907T>A
c.2172T>A (n.2172T>A)
c.25107T>A (p.Cys8369Ter)
n.3070T>A
c.5098T>A (n.5098T>A)
n.10014T>A
c.4201T>A (n.4201T>A)
n.9906T>A
c.851-2758A>T (n.851-2758A>T)
n.2936T>A
n.6959T>A
c.2787T>A (p.Cys929Ter)
c.26469T>A (p.Cys8823Ter)
c.26457T>A (p.Cys8819Ter)
c.26448T>A (p.Cys8816Ter)
c.26427T>A (p.Cys8809Ter)
c.26418T>A (p.Cys8806Ter)
c.26412T>A (p.Cys8804Ter)
c.26400T>A (p.Cys8800Ter)
c.26397T>A (p.Cys8799Ter)
c.26358T>A (p.Cys8786Ter)
c.26343T>A (p.Cys8781Ter)
c.26328T>A (p.Cys8776Ter)
c.26316T>A (p.Cys8772Ter)
c.26313T>A (p.Cys8771Ter)
c.26310T>A (p.Cys8770Ter)
c.*133T>A (n.*133T>A)
c.26466T>A (p.Cys8822Ter)
c.26454T>A (p.Cys8818Ter)
c.26304T>A (p.Cys8768Ter)
c.24744T>A (p.Cys8248Ter)
c.24237T>A (p.Cys8079Ter)
c.19704T>A (p.Cys6568Ter)
c.26442T>A (p.Cys8814Ter)
c.26391T>A (p.Cys8797Ter)
c.26355T>A (p.Cys8785Ter)
c.26202T>A (p.Cys8734Ter)
6g.152122509C>ACA366088678ESR1,SYNE1c.2855G>T (p.Cys952Phe)
c.26321G>T (p.Cys8774Phe)
c.26177G>T (p.Cys8726Phe)
c.1664G>T
c.2039G>T
c.1906G>T
c.2171G>T (n.2171G>T)
c.25106G>T (p.Cys8369Phe)
n.3069G>T
c.5097G>T (n.5097G>T)
n.10013G>T
c.4200G>T (n.4200G>T)
n.9905G>T
c.851-2757C>A (n.851-2757C>A)
n.2935G>T
n.6958G>T
c.2786G>T (p.Cys929Phe)
c.26468G>T (p.Cys8823Phe)
c.26456G>T (p.Cys8819Phe)
c.26447G>T (p.Cys8816Phe)
c.26426G>T (p.Cys8809Phe)
c.26417G>T (p.Cys8806Phe)
c.26411G>T (p.Cys8804Phe)
c.26399G>T (p.Cys8800Phe)
c.26396G>T (p.Cys8799Phe)
c.26357G>T (p.Cys8786Phe)
c.26342G>T (p.Cys8781Phe)
c.26327G>T (p.Cys8776Phe)
c.26315G>T (p.Cys8772Phe)
c.26312G>T (p.Cys8771Phe)
c.26309G>T (p.Cys8770Phe)
c.*132G>T (n.*132G>T)
c.26465G>T (p.Cys8822Phe)
c.26453G>T (p.Cys8818Phe)
c.26303G>T (p.Cys8768Phe)
c.24743G>T (p.Cys8248Phe)
c.24236G>T (p.Cys8079Phe)
c.19703G>T (p.Cys6568Phe)
c.26441G>T (p.Cys8814Phe)
c.26390G>T (p.Cys8797Phe)
c.26354G>T (p.Cys8785Phe)
c.26201G>T (p.Cys8734Phe)
 dbSNP gnomAD v2
6g.152122509C=CA1673188903ESR1,SYNE1c.2855G= (p.Cys952=)
c.26321G= (p.Cys8774=)
c.26177G= (p.Cys8726=)
c.1664G=
c.2039G=
c.1906G=
c.2171G= (n.2171G=)
c.25106G= (p.Cys8369=)
n.3069G=
c.5097G= (n.5097G=)
n.10013G=
c.4200G= (n.4200G=)
n.9905G=
c.851-2757C= (n.851-2757C=)
n.2935G=
n.6958G=
c.2786G= (p.Cys929=)
c.26468G= (p.Cys8823=)
c.26456G= (p.Cys8819=)
c.26447G= (p.Cys8816=)
c.26426G= (p.Cys8809=)
c.26417G= (p.Cys8806=)
c.26411G= (p.Cys8804=)
c.26399G= (p.Cys8800=)
c.26396G= (p.Cys8799=)
c.26357G= (p.Cys8786=)
c.26342G= (p.Cys8781=)
c.26327G= (p.Cys8776=)
c.26315G= (p.Cys8772=)
c.26312G= (p.Cys8771=)
c.26309G= (p.Cys8770=)
c.*132G= (n.*132G=)
c.26465G= (p.Cys8822=)
c.26453G= (p.Cys8818=)
c.26303G= (p.Cys8768=)
c.24743G= (p.Cys8248=)
c.24236G= (p.Cys8079=)
c.19703G= (p.Cys6568=)
c.26441G= (p.Cys8814=)
c.26390G= (p.Cys8797=)
c.26354G= (p.Cys8785=)
c.26201G= (p.Cys8734=)
6g.152122509C>GCA366088679ESR1,SYNE1c.2855G>C (p.Cys952Ser)
c.26321G>C (p.Cys8774Ser)
c.26177G>C (p.Cys8726Ser)
c.1664G>C
c.2039G>C
c.1906G>C
c.2171G>C (n.2171G>C)
c.25106G>C (p.Cys8369Ser)
n.3069G>C
c.5097G>C (n.5097G>C)
n.10013G>C
c.4200G>C (n.4200G>C)
n.9905G>C
c.851-2757C>G (n.851-2757C>G)
n.2935G>C
n.6958G>C
c.2786G>C (p.Cys929Ser)
c.26468G>C (p.Cys8823Ser)
c.26456G>C (p.Cys8819Ser)
c.26447G>C (p.Cys8816Ser)
c.26426G>C (p.Cys8809Ser)
c.26417G>C (p.Cys8806Ser)
c.26411G>C (p.Cys8804Ser)
c.26399G>C (p.Cys8800Ser)
c.26396G>C (p.Cys8799Ser)
c.26357G>C (p.Cys8786Ser)
c.26342G>C (p.Cys8781Ser)
c.26327G>C (p.Cys8776Ser)
c.26315G>C (p.Cys8772Ser)
c.26312G>C (p.Cys8771Ser)
c.26309G>C (p.Cys8770Ser)
c.*132G>C (n.*132G>C)
c.26465G>C (p.Cys8822Ser)
c.26453G>C (p.Cys8818Ser)
c.26303G>C (p.Cys8768Ser)
c.24743G>C (p.Cys8248Ser)
c.24236G>C (p.Cys8079Ser)
c.19703G>C (p.Cys6568Ser)
c.26441G>C (p.Cys8814Ser)
c.26390G>C (p.Cys8797Ser)
c.26354G>C (p.Cys8785Ser)
c.26201G>C (p.Cys8734Ser)
6g.152122509C>TCA366088681ESR1,SYNE1c.2855G>A (p.Cys952Tyr)
c.26321G>A (p.Cys8774Tyr)
c.26177G>A (p.Cys8726Tyr)
c.1664G>A
c.2039G>A
c.1906G>A
c.2171G>A (n.2171G>A)
c.25106G>A (p.Cys8369Tyr)
n.3069G>A
c.5097G>A (n.5097G>A)
n.10013G>A
c.4200G>A (n.4200G>A)
n.9905G>A
c.851-2757C>T (n.851-2757C>T)
n.2935G>A
n.6958G>A
c.2786G>A (p.Cys929Tyr)
c.26468G>A (p.Cys8823Tyr)
c.26456G>A (p.Cys8819Tyr)
c.26447G>A (p.Cys8816Tyr)
c.26426G>A (p.Cys8809Tyr)
c.26417G>A (p.Cys8806Tyr)
c.26411G>A (p.Cys8804Tyr)
c.26399G>A (p.Cys8800Tyr)
c.26396G>A (p.Cys8799Tyr)
c.26357G>A (p.Cys8786Tyr)
c.26342G>A (p.Cys8781Tyr)
c.26327G>A (p.Cys8776Tyr)
c.26315G>A (p.Cys8772Tyr)
c.26312G>A (p.Cys8771Tyr)
c.26309G>A (p.Cys8770Tyr)
c.*132G>A (n.*132G>A)
c.26465G>A (p.Cys8822Tyr)
c.26453G>A (p.Cys8818Tyr)
c.26303G>A (p.Cys8768Tyr)
c.24743G>A (p.Cys8248Tyr)
c.24236G>A (p.Cys8079Tyr)
c.19703G>A (p.Cys6568Tyr)
c.26441G>A (p.Cys8814Tyr)
c.26390G>A (p.Cys8797Tyr)
c.26354G>A (p.Cys8785Tyr)
c.26201G>A (p.Cys8734Tyr)
 dbSNP gnomAD v3 gnomAD v4
6g.152122510A>CCA366088683ESR1,SYNE1c.2854T>G (p.Cys952Gly)
c.26320T>G (p.Cys8774Gly)
c.26176T>G (p.Cys8726Gly)
c.1663T>G
c.2038T>G
c.1905T>G
c.2170T>G (n.2170T>G)
c.25105T>G (p.Cys8369Gly)
n.3068T>G
c.5096T>G (n.5096T>G)
n.10012T>G
c.4199T>G (n.4199T>G)
n.9904T>G
c.851-2756A>C (n.851-2756A>C)
n.2934T>G
n.6957T>G
c.2785T>G (p.Cys929Gly)
c.26467T>G (p.Cys8823Gly)
c.26455T>G (p.Cys8819Gly)
c.26446T>G (p.Cys8816Gly)
c.26425T>G (p.Cys8809Gly)
c.26416T>G (p.Cys8806Gly)
c.26410T>G (p.Cys8804Gly)
c.26398T>G (p.Cys8800Gly)
c.26395T>G (p.Cys8799Gly)
c.26356T>G (p.Cys8786Gly)
c.26341T>G (p.Cys8781Gly)
c.26326T>G (p.Cys8776Gly)
c.26314T>G (p.Cys8772Gly)
c.26311T>G (p.Cys8771Gly)
c.26308T>G (p.Cys8770Gly)
c.*131T>G (n.*131T>G)
c.26464T>G (p.Cys8822Gly)
c.26452T>G (p.Cys8818Gly)
c.26302T>G (p.Cys8768Gly)
c.24742T>G (p.Cys8248Gly)
c.24235T>G (p.Cys8079Gly)
c.19702T>G (p.Cys6568Gly)
c.26440T>G (p.Cys8814Gly)
c.26389T>G (p.Cys8797Gly)
c.26353T>G (p.Cys8785Gly)
c.26200T>G (p.Cys8734Gly)
6g.152122510A>GCA366088684ESR1,SYNE1c.2854T>C (p.Cys952Arg)
c.26320T>C (p.Cys8774Arg)
c.26176T>C (p.Cys8726Arg)
c.1663T>C
c.2038T>C
c.1905T>C
c.2170T>C (n.2170T>C)
c.25105T>C (p.Cys8369Arg)
n.3068T>C
c.5096T>C (n.5096T>C)
n.10012T>C
c.4199T>C (n.4199T>C)
n.9904T>C
c.851-2756A>G (n.851-2756A>G)
n.2934T>C
n.6957T>C
c.2785T>C (p.Cys929Arg)
c.26467T>C (p.Cys8823Arg)
c.26455T>C (p.Cys8819Arg)
c.26446T>C (p.Cys8816Arg)
c.26425T>C (p.Cys8809Arg)
c.26416T>C (p.Cys8806Arg)
c.26410T>C (p.Cys8804Arg)
c.26398T>C (p.Cys8800Arg)
c.26395T>C (p.Cys8799Arg)
c.26356T>C (p.Cys8786Arg)
c.26341T>C (p.Cys8781Arg)
c.26326T>C (p.Cys8776Arg)
c.26314T>C (p.Cys8772Arg)
c.26311T>C (p.Cys8771Arg)
c.26308T>C (p.Cys8770Arg)
c.*131T>C (n.*131T>C)
c.26464T>C (p.Cys8822Arg)
c.26452T>C (p.Cys8818Arg)
c.26302T>C (p.Cys8768Arg)
c.24742T>C (p.Cys8248Arg)
c.24235T>C (p.Cys8079Arg)
c.19702T>C (p.Cys6568Arg)
c.26440T>C (p.Cys8814Arg)
c.26389T>C (p.Cys8797Arg)
c.26353T>C (p.Cys8785Arg)
c.26200T>C (p.Cys8734Arg)
6g.152122510A>TCA366088686ESR1,SYNE1c.2854T>A (p.Cys952Ser)
c.26320T>A (p.Cys8774Ser)
c.26176T>A (p.Cys8726Ser)
c.1663T>A
c.2038T>A
c.1905T>A
c.2170T>A (n.2170T>A)
c.25105T>A (p.Cys8369Ser)
n.3068T>A
c.5096T>A (n.5096T>A)
n.10012T>A
c.4199T>A (n.4199T>A)
n.9904T>A
c.851-2756A>T (n.851-2756A>T)
n.2934T>A
n.6957T>A
c.2785T>A (p.Cys929Ser)
c.26467T>A (p.Cys8823Ser)
c.26455T>A (p.Cys8819Ser)
c.26446T>A (p.Cys8816Ser)
c.26425T>A (p.Cys8809Ser)
c.26416T>A (p.Cys8806Ser)
c.26410T>A (p.Cys8804Ser)
c.26398T>A (p.Cys8800Ser)
c.26395T>A (p.Cys8799Ser)
c.26356T>A (p.Cys8786Ser)
c.26341T>A (p.Cys8781Ser)
c.26326T>A (p.Cys8776Ser)
c.26314T>A (p.Cys8772Ser)
c.26311T>A (p.Cys8771Ser)
c.26308T>A (p.Cys8770Ser)
c.*131T>A (n.*131T>A)
c.26464T>A (p.Cys8822Ser)
c.26452T>A (p.Cys8818Ser)
c.26302T>A (p.Cys8768Ser)
c.24742T>A (p.Cys8248Ser)
c.24235T>A (p.Cys8079Ser)
c.19702T>A (p.Cys6568Ser)
c.26440T>A (p.Cys8814Ser)
c.26389T>A (p.Cys8797Ser)
c.26353T>A (p.Cys8785Ser)
c.26200T>A (p.Cys8734Ser)
6g.152122511G>ACA452969607ESR1,SYNE1c.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=)
6g.152122511G>CCA366088688ESR1,SYNE1c.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)
6g.152122511G>TCA366088690ESR1,SYNE1c.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)
6g.152122512C>ACA366088691ESR1,SYNE1c.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)
6g.152122512C>GCA366088693ESR1,SYNE1c.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
6g.152122512C>TCA366088694ESR1,SYNE1c.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)
6g.152122513T>ACA366088701ESR1,SYNE1c.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)
6g.152122513T>CCA366088699ESR1,SYNE1c.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
6g.152122513T>GCA366088697ESR1,SYNE1c.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)
6g.152122514G>ACA4052587ESR1,SYNE1c.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
6g.152122514G>CCA366088703ESR1,SYNE1c.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)
6g.152122514G=CA1673188905ESR1,SYNE1c.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=)
6g.152122514G>TCA366088704ESR1,SYNE1c.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)
6g.152122515T>ACA366088706ESR1,SYNE1c.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)
6g.152122515T>CCA366088708ESR1,SYNE1c.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)
6g.152122515T>GCA366088709ESR1,SYNE1c.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)
6g.152122516A>CCA366088712ESR1,SYNE1c.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)
6g.152122516A>GCA366088714ESR1,SYNE1c.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
6g.152122516A>TCA366088715ESR1,SYNE1c.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)
6g.152122517G>ACA4052588ESR1,SYNE1c.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
6g.152122517G>CCA366088717ESR1,SYNE1c.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
6g.152122517G=CA1673188909ESR1,SYNE1c.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=)
6g.152122517G>TCA366088719ESR1,SYNE1c.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)
6g.152122518T>ACA366088724ESR1,SYNE1c.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)
6g.152122518T>CCA366088720ESR1,SYNE1c.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)
6g.152122518T>GCA366088722ESR1,SYNE1c.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)
6g.152122519C>ACA366088726ESR1,SYNE1c.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
6g.152122519C=CA1673188912ESR1,SYNE1c.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=)
6g.152122519C>GCA366088728ESR1,SYNE1c.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)
6g.152122519C>TCA366088730ESR1,SYNE1c.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
6g.152122520T>ACA366088732ESR1,SYNE1c.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)
6g.152122520T>CCA452969625ESR1,SYNE1c.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=)
6g.152122520T>GCA366088736ESR1,SYNE1c.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
6g.152122521T>ACA366088740ESR1,SYNE1c.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)
6g.152122521T>CCA366088742ESR1,SYNE1c.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)
6g.152122521T>GCA366088743ESR1,SYNE1c.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)
6g.152122522C>ACA366088745ESR1,SYNE1c.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)
6g.152122522C>GCA366088747ESR1,SYNE1c.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)
6g.152122522C>TCA366088749ESR1,SYNE1c.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
6g.152122523C>ACA366088754ESR1,SYNE1c.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)
6g.152122523C=CA1673188916ESR1,SYNE1c.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=)
6g.152122523C>GCA366088752ESR1,SYNE1c.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)
6g.152122523C>TCA4052589ESR1,SYNE1c.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
6g.152122525_152122526delCA645564552ESR1,SYNE1c.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
6g.152122524T>ACA366088757ESR1,SYNE1c.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
6g.152122524T>CCA366088761ESR1,SYNE1c.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)
6g.152122524T>GCA366088759ESR1,SYNE1c.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)
6g.152122525C>ACA366088764ESR1,SYNE1c.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)
6g.152122525C=CA1673188927ESR1,SYNE1c.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=)
6g.152122525C>GCA366088765ESR1,SYNE1c.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)
6g.152122525C>TCA366088767ESR1,SYNE1c.2839G>A (p.Glu947Lys)
c.26305G>A (p.Glu8769Lys)
c.26161G>A (p.Glu8721Lys)
c.1648G>A
c.2023G>A
c.1890G>A
c.2155G>A (n.2155G>A)
c.25090G>A (p.Glu8364Lys)
n.3053G>A
c.5081G>A (n.5081G>A)
n.9997G>A
c.4184G>A (n.4184G>A)
n.9889G>A
c.851-2741C>T (n.851-2741C>T)
n.2919G>A
n.6942G>A
c.2770G>A (p.Glu924Lys)
c.26452G>A (p.Glu8818Lys)
c.26440G>A (p.Glu8814Lys)
c.26431G>A (p.Glu8811Lys)
c.26410G>A (p.Glu8804Lys)
c.26401G>A (p.Glu8801Lys)
c.26395G>A (p.Glu8799Lys)
c.26383G>A (p.Glu8795Lys)
c.26380G>A (p.Glu8794Lys)
c.26341G>A (p.Glu8781Lys)
c.26326G>A (p.Glu8776Lys)
c.26311G>A (p.Glu8771Lys)
c.26299G>A (p.Glu8767Lys)
c.26296G>A (p.Glu8766Lys)
c.26293G>A (p.Glu8765Lys)
c.*116G>A (n.*116G>A)
c.26449G>A (p.Glu8817Lys)
c.26437G>A (p.Glu8813Lys)
c.26287G>A (p.Glu8763Lys)
c.24727G>A (p.Glu8243Lys)
c.24220G>A (p.Glu8074Lys)
c.19687G>A (p.Glu6563Lys)
c.26425G>A (p.Glu8809Lys)
c.26374G>A (p.Glu8792Lys)
c.26338G>A (p.Glu8780Lys)
c.26185G>A (p.Glu8729Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.152122526T>ACA452969631ESR1,SYNE1c.2838A>T (p.Ser946=)
c.26304A>T (p.Ser8768=)
c.26160A>T (p.Ser8720=)
c.1647A>T
c.2022A>T
c.1889A>T
c.2154A>T (n.2154A>T)
c.25089A>T (p.Ser8363=)
n.3052A>T
c.5080A>T (n.5080A>T)
n.9996A>T
c.4183A>T (n.4183A>T)
n.9888A>T
c.851-2740T>A (n.851-2740T>A)
n.2918A>T
n.6941A>T
c.2769A>T (p.Ser923=)
c.26451A>T (p.Ser8817=)
c.26439A>T (p.Ser8813=)
c.26430A>T (p.Ser8810=)
c.26409A>T (p.Ser8803=)
c.26400A>T (p.Ser8800=)
c.26394A>T (p.Ser8798=)
c.26382A>T (p.Ser8794=)
c.26379A>T (p.Ser8793=)
c.26340A>T (p.Ser8780=)
c.26325A>T (p.Ser8775=)
c.26310A>T (p.Ser8770=)
c.26298A>T (p.Ser8766=)
c.26295A>T (p.Ser8765=)
c.26292A>T (p.Ser8764=)
c.*115A>T (n.*115A>T)
c.26448A>T (p.Ser8816=)
c.26436A>T (p.Ser8812=)
c.26286A>T (p.Ser8762=)
c.24726A>T (p.Ser8242=)
c.24219A>T (p.Ser8073=)
c.19686A>T (p.Ser6562=)
c.26424A>T (p.Ser8808=)
c.26373A>T (p.Ser8791=)
c.26337A>T (p.Ser8779=)
c.26184A>T (p.Ser8728=)
6g.152122526T>CCA452969633ESR1,SYNE1c.2838A>G (p.Ser946=)
c.26304A>G (p.Ser8768=)
c.26160A>G (p.Ser8720=)
c.1647A>G
c.2022A>G
c.1889A>G
c.2154A>G (n.2154A>G)
c.25089A>G (p.Ser8363=)
n.3052A>G
c.5080A>G (n.5080A>G)
n.9996A>G
c.4183A>G (n.4183A>G)
n.9888A>G
c.851-2740T>C (n.851-2740T>C)
n.2918A>G
n.6941A>G
c.2769A>G (p.Ser923=)
c.26451A>G (p.Ser8817=)
c.26439A>G (p.Ser8813=)
c.26430A>G (p.Ser8810=)
c.26409A>G (p.Ser8803=)
c.26400A>G (p.Ser8800=)
c.26394A>G (p.Ser8798=)
c.26382A>G (p.Ser8794=)
c.26379A>G (p.Ser8793=)
c.26340A>G (p.Ser8780=)
c.26325A>G (p.Ser8775=)
c.26310A>G (p.Ser8770=)
c.26298A>G (p.Ser8766=)
c.26295A>G (p.Ser8765=)
c.26292A>G (p.Ser8764=)
c.*115A>G (n.*115A>G)
c.26448A>G (p.Ser8816=)
c.26436A>G (p.Ser8812=)
c.26286A>G (p.Ser8762=)
c.24726A>G (p.Ser8242=)
c.24219A>G (p.Ser8073=)
c.19686A>G (p.Ser6562=)
c.26424A>G (p.Ser8808=)
c.26373A>G (p.Ser8791=)
c.26337A>G (p.Ser8779=)
c.26184A>G (p.Ser8728=)
 gnomAD v4
6g.152122526T>GCA452969634ESR1,SYNE1c.2838A>C (p.Ser946=)
c.26304A>C (p.Ser8768=)
c.26160A>C (p.Ser8720=)
c.1647A>C
c.2022A>C
c.1889A>C
c.2154A>C (n.2154A>C)
c.25089A>C (p.Ser8363=)
n.3052A>C
c.5080A>C (n.5080A>C)
n.9996A>C
c.4183A>C (n.4183A>C)
n.9888A>C
c.851-2740T>G (n.851-2740T>G)
n.2918A>C
n.6941A>C
c.2769A>C (p.Ser923=)
c.26451A>C (p.Ser8817=)
c.26439A>C (p.Ser8813=)
c.26430A>C (p.Ser8810=)
c.26409A>C (p.Ser8803=)
c.26400A>C (p.Ser8800=)
c.26394A>C (p.Ser8798=)
c.26382A>C (p.Ser8794=)
c.26379A>C (p.Ser8793=)
c.26340A>C (p.Ser8780=)
c.26325A>C (p.Ser8775=)
c.26310A>C (p.Ser8770=)
c.26298A>C (p.Ser8766=)
c.26295A>C (p.Ser8765=)
c.26292A>C (p.Ser8764=)
c.*115A>C (n.*115A>C)
c.26448A>C (p.Ser8816=)
c.26436A>C (p.Ser8812=)
c.26286A>C (p.Ser8762=)
c.24726A>C (p.Ser8242=)
c.24219A>C (p.Ser8073=)
c.19686A>C (p.Ser6562=)
c.26424A>C (p.Ser8808=)
c.26373A>C (p.Ser8791=)
c.26337A>C (p.Ser8779=)
c.26184A>C (p.Ser8728=)
6g.152122527G>ACA366088769ESR1,SYNE1c.2837C>T (p.Ser946Leu)
c.26303C>T (p.Ser8768Leu)
c.26159C>T (p.Ser8720Leu)
c.1646C>T
c.2021C>T
c.1888C>T
c.2153C>T (n.2153C>T)
c.25088C>T (p.Ser8363Leu)
n.3051C>T
c.5079C>T (n.5079C>T)
n.9995C>T
c.4182C>T (n.4182C>T)
n.9887C>T
c.851-2739G>A (n.851-2739G>A)
n.2917C>T
n.6940C>T
c.2768C>T (p.Ser923Leu)
c.26450C>T (p.Ser8817Leu)
c.26438C>T (p.Ser8813Leu)
c.26429C>T (p.Ser8810Leu)
c.26408C>T (p.Ser8803Leu)
c.26399C>T (p.Ser8800Leu)
c.26393C>T (p.Ser8798Leu)
c.26381C>T (p.Ser8794Leu)
c.26378C>T (p.Ser8793Leu)
c.26339C>T (p.Ser8780Leu)
c.26324C>T (p.Ser8775Leu)
c.26309C>T (p.Ser8770Leu)
c.26297C>T (p.Ser8766Leu)
c.26294C>T (p.Ser8765Leu)
c.26291C>T (p.Ser8764Leu)
c.*114C>T (n.*114C>T)
c.26447C>T (p.Ser8816Leu)
c.26435C>T (p.Ser8812Leu)
c.26285C>T (p.Ser8762Leu)
c.24725C>T (p.Ser8242Leu)
c.24218C>T (p.Ser8073Leu)
c.19685C>T (p.Ser6562Leu)
c.26423C>T (p.Ser8808Leu)
c.26372C>T (p.Ser8791Leu)
c.26336C>T (p.Ser8779Leu)
c.26183C>T (p.Ser8728Leu)
6g.152122527G>CCA366088770ESR1,SYNE1c.2837C>G (p.Ser946Ter)
c.26303C>G (p.Ser8768Ter)
c.26159C>G (p.Ser8720Ter)
c.1646C>G
c.2021C>G
c.1888C>G
c.2153C>G (n.2153C>G)
c.25088C>G (p.Ser8363Ter)
n.3051C>G
c.5079C>G (n.5079C>G)
n.9995C>G
c.4182C>G (n.4182C>G)
n.9887C>G
c.851-2739G>C (n.851-2739G>C)
n.2917C>G
n.6940C>G
c.2768C>G (p.Ser923Ter)
c.26450C>G (p.Ser8817Ter)
c.26438C>G (p.Ser8813Ter)
c.26429C>G (p.Ser8810Ter)
c.26408C>G (p.Ser8803Ter)
c.26399C>G (p.Ser8800Ter)
c.26393C>G (p.Ser8798Ter)
c.26381C>G (p.Ser8794Ter)
c.26378C>G (p.Ser8793Ter)
c.26339C>G (p.Ser8780Ter)
c.26324C>G (p.Ser8775Ter)
c.26309C>G (p.Ser8770Ter)
c.26297C>G (p.Ser8766Ter)
c.26294C>G (p.Ser8765Ter)
c.26291C>G (p.Ser8764Ter)
c.*114C>G (n.*114C>G)
c.26447C>G (p.Ser8816Ter)
c.26435C>G (p.Ser8812Ter)
c.26285C>G (p.Ser8762Ter)
c.24725C>G (p.Ser8242Ter)
c.24218C>G (p.Ser8073Ter)
c.19685C>G (p.Ser6562Ter)
c.26423C>G (p.Ser8808Ter)
c.26372C>G (p.Ser8791Ter)
c.26336C>G (p.Ser8779Ter)
c.26183C>G (p.Ser8728Ter)
6g.152122527G>TCA366088772ESR1,SYNE1c.2837C>A (p.Ser946Ter)
c.26303C>A (p.Ser8768Ter)
c.26159C>A (p.Ser8720Ter)
c.1646C>A
c.2021C>A
c.1888C>A
c.2153C>A (n.2153C>A)
c.25088C>A (p.Ser8363Ter)
n.3051C>A
c.5079C>A (n.5079C>A)
n.9995C>A
c.4182C>A (n.4182C>A)
n.9887C>A
c.851-2739G>T (n.851-2739G>T)
n.2917C>A
n.6940C>A
c.2768C>A (p.Ser923Ter)
c.26450C>A (p.Ser8817Ter)
c.26438C>A (p.Ser8813Ter)
c.26429C>A (p.Ser8810Ter)
c.26408C>A (p.Ser8803Ter)
c.26399C>A (p.Ser8800Ter)
c.26393C>A (p.Ser8798Ter)
c.26381C>A (p.Ser8794Ter)
c.26378C>A (p.Ser8793Ter)
c.26339C>A (p.Ser8780Ter)
c.26324C>A (p.Ser8775Ter)
c.26309C>A (p.Ser8770Ter)
c.26297C>A (p.Ser8766Ter)
c.26294C>A (p.Ser8765Ter)
c.26291C>A (p.Ser8764Ter)
c.*114C>A (n.*114C>A)
c.26447C>A (p.Ser8816Ter)
c.26435C>A (p.Ser8812Ter)
c.26285C>A (p.Ser8762Ter)
c.24725C>A (p.Ser8242Ter)
c.24218C>A (p.Ser8073Ter)
c.19685C>A (p.Ser6562Ter)
c.26423C>A (p.Ser8808Ter)
c.26372C>A (p.Ser8791Ter)
c.26336C>A (p.Ser8779Ter)
c.26183C>A (p.Ser8728Ter)
6g.152122528A>CCA366088774ESR1,SYNE1c.2836T>G (p.Ser946Ala)
c.26302T>G (p.Ser8768Ala)
c.26158T>G (p.Ser8720Ala)
c.1645T>G
c.2020T>G
c.1887T>G
c.2152T>G (n.2152T>G)
c.25087T>G (p.Ser8363Ala)
n.3050T>G
c.5078T>G (n.5078T>G)
n.9994T>G
c.4181T>G (n.4181T>G)
n.9886T>G
c.851-2738A>C (n.851-2738A>C)
n.2916T>G
n.6939T>G
c.2767T>G (p.Ser923Ala)
c.26449T>G (p.Ser8817Ala)
c.26437T>G (p.Ser8813Ala)
c.26428T>G (p.Ser8810Ala)
c.26407T>G (p.Ser8803Ala)
c.26398T>G (p.Ser8800Ala)
c.26392T>G (p.Ser8798Ala)
c.26380T>G (p.Ser8794Ala)
c.26377T>G (p.Ser8793Ala)
c.26338T>G (p.Ser8780Ala)
c.26323T>G (p.Ser8775Ala)
c.26308T>G (p.Ser8770Ala)
c.26296T>G (p.Ser8766Ala)
c.26293T>G (p.Ser8765Ala)
c.26290T>G (p.Ser8764Ala)
c.*113T>G (n.*113T>G)
c.26446T>G (p.Ser8816Ala)
c.26434T>G (p.Ser8812Ala)
c.26284T>G (p.Ser8762Ala)
c.24724T>G (p.Ser8242Ala)
c.24217T>G (p.Ser8073Ala)
c.19684T>G (p.Ser6562Ala)
c.26422T>G (p.Ser8808Ala)
c.26371T>G (p.Ser8791Ala)
c.26335T>G (p.Ser8779Ala)
c.26182T>G (p.Ser8728Ala)
6g.152122528A>GCA366088776ESR1,SYNE1c.2836T>C (p.Ser946Pro)
c.26302T>C (p.Ser8768Pro)
c.26158T>C (p.Ser8720Pro)
c.1645T>C
c.2020T>C
c.1887T>C
c.2152T>C (n.2152T>C)
c.25087T>C (p.Ser8363Pro)
n.3050T>C
c.5078T>C (n.5078T>C)
n.9994T>C
c.4181T>C (n.4181T>C)
n.9886T>C
c.851-2738A>G (n.851-2738A>G)
n.2916T>C
n.6939T>C
c.2767T>C (p.Ser923Pro)
c.26449T>C (p.Ser8817Pro)
c.26437T>C (p.Ser8813Pro)
c.26428T>C (p.Ser8810Pro)
c.26407T>C (p.Ser8803Pro)
c.26398T>C (p.Ser8800Pro)
c.26392T>C (p.Ser8798Pro)
c.26380T>C (p.Ser8794Pro)
c.26377T>C (p.Ser8793Pro)
c.26338T>C (p.Ser8780Pro)
c.26323T>C (p.Ser8775Pro)
c.26308T>C (p.Ser8770Pro)
c.26296T>C (p.Ser8766Pro)
c.26293T>C (p.Ser8765Pro)
c.26290T>C (p.Ser8764Pro)
c.*113T>C (n.*113T>C)
c.26446T>C (p.Ser8816Pro)
c.26434T>C (p.Ser8812Pro)
c.26284T>C (p.Ser8762Pro)
c.24724T>C (p.Ser8242Pro)
c.24217T>C (p.Ser8073Pro)
c.19684T>C (p.Ser6562Pro)
c.26422T>C (p.Ser8808Pro)
c.26371T>C (p.Ser8791Pro)
c.26335T>C (p.Ser8779Pro)
c.26182T>C (p.Ser8728Pro)
6g.152122528A>TCA366088778ESR1,SYNE1c.2836T>A (p.Ser946Thr)
c.26302T>A (p.Ser8768Thr)
c.26158T>A (p.Ser8720Thr)
c.1645T>A
c.2020T>A
c.1887T>A
c.2152T>A (n.2152T>A)
c.25087T>A (p.Ser8363Thr)
n.3050T>A
c.5078T>A (n.5078T>A)
n.9994T>A
c.4181T>A (n.4181T>A)
n.9886T>A
c.851-2738A>T (n.851-2738A>T)
n.2916T>A
n.6939T>A
c.2767T>A (p.Ser923Thr)
c.26449T>A (p.Ser8817Thr)
c.26437T>A (p.Ser8813Thr)
c.26428T>A (p.Ser8810Thr)
c.26407T>A (p.Ser8803Thr)
c.26398T>A (p.Ser8800Thr)
c.26392T>A (p.Ser8798Thr)
c.26380T>A (p.Ser8794Thr)
c.26377T>A (p.Ser8793Thr)
c.26338T>A (p.Ser8780Thr)
c.26323T>A (p.Ser8775Thr)
c.26308T>A (p.Ser8770Thr)
c.26296T>A (p.Ser8766Thr)
c.26293T>A (p.Ser8765Thr)
c.26290T>A (p.Ser8764Thr)
c.*113T>A (n.*113T>A)
c.26446T>A (p.Ser8816Thr)
c.26434T>A (p.Ser8812Thr)
c.26284T>A (p.Ser8762Thr)
c.24724T>A (p.Ser8242Thr)
c.24217T>A (p.Ser8073Thr)
c.19684T>A (p.Ser6562Thr)
c.26422T>A (p.Ser8808Thr)
c.26371T>A (p.Ser8791Thr)
c.26335T>A (p.Ser8779Thr)
c.26182T>A (p.Ser8728Thr)
6g.152122529C>ACA366088780ESR1,SYNE1c.2835G>T (p.Met945Ile)
c.26301G>T (p.Met8767Ile)
c.26157G>T (p.Met8719Ile)
c.1644G>T
c.2019G>T
c.1886G>T
c.2151G>T (n.2151G>T)
c.25086G>T (p.Met8362Ile)
n.3049G>T
c.5077G>T (n.5077G>T)
n.9993G>T
c.4180G>T (n.4180G>T)
n.9885G>T
c.851-2737C>A (n.851-2737C>A)
n.2915G>T
n.6938G>T
c.2766G>T (p.Met922Ile)
c.26448G>T (p.Met8816Ile)
c.26436G>T (p.Met8812Ile)
c.26427G>T (p.Met8809Ile)
c.26406G>T (p.Met8802Ile)
c.26397G>T (p.Met8799Ile)
c.26391G>T (p.Met8797Ile)
c.26379G>T (p.Met8793Ile)
c.26376G>T (p.Met8792Ile)
c.26337G>T (p.Met8779Ile)
c.26322G>T (p.Met8774Ile)
c.26307G>T (p.Met8769Ile)
c.26295G>T (p.Met8765Ile)
c.26292G>T (p.Met8764Ile)
c.26289G>T (p.Met8763Ile)
c.*112G>T (n.*112G>T)
c.26445G>T (p.Met8815Ile)
c.26433G>T (p.Met8811Ile)
c.26283G>T (p.Met8761Ile)
c.24723G>T (p.Met8241Ile)
c.24216G>T (p.Met8072Ile)
c.19683G>T (p.Met6561Ile)
c.26421G>T (p.Met8807Ile)
c.26370G>T (p.Met8790Ile)
c.26334G>T (p.Met8778Ile)
c.26181G>T (p.Met8727Ile)
6g.152122529C=CA1673188930ESR1,SYNE1c.2835G= (p.Met945=)
c.26301G= (p.Met8767=)
c.26157G= (p.Met8719=)
c.1644G=
c.2019G=
c.1886G=
c.2151G= (n.2151G=)
c.25086G= (p.Met8362=)
n.3049G=
c.5077G= (n.5077G=)
n.9993G=
c.4180G= (n.4180G=)
n.9885G=
c.851-2737C= (n.851-2737C=)
n.2915G=
n.6938G=
c.2766G= (p.Met922=)
c.26448G= (p.Met8816=)
c.26436G= (p.Met8812=)
c.26427G= (p.Met8809=)
c.26406G= (p.Met8802=)
c.26397G= (p.Met8799=)
c.26391G= (p.Met8797=)
c.26379G= (p.Met8793=)
c.26376G= (p.Met8792=)
c.26337G= (p.Met8779=)
c.26322G= (p.Met8774=)
c.26307G= (p.Met8769=)
c.26295G= (p.Met8765=)
c.26292G= (p.Met8764=)
c.26289G= (p.Met8763=)
c.*112G= (n.*112G=)
c.26445G= (p.Met8815=)
c.26433G= (p.Met8811=)
c.26283G= (p.Met8761=)
c.24723G= (p.Met8241=)
c.24216G= (p.Met8072=)
c.19683G= (p.Met6561=)
c.26421G= (p.Met8807=)
c.26370G= (p.Met8790=)
c.26334G= (p.Met8778=)
c.26181G= (p.Met8727=)
6g.152122529C>GCA366088782ESR1,SYNE1c.2835G>C (p.Met945Ile)
c.26301G>C (p.Met8767Ile)
c.26157G>C (p.Met8719Ile)
c.1644G>C
c.2019G>C
c.1886G>C
c.2151G>C (n.2151G>C)
c.25086G>C (p.Met8362Ile)
n.3049G>C
c.5077G>C (n.5077G>C)
n.9993G>C
c.4180G>C (n.4180G>C)
n.9885G>C
c.851-2737C>G (n.851-2737C>G)
n.2915G>C
n.6938G>C
c.2766G>C (p.Met922Ile)
c.26448G>C (p.Met8816Ile)
c.26436G>C (p.Met8812Ile)
c.26427G>C (p.Met8809Ile)
c.26406G>C (p.Met8802Ile)
c.26397G>C (p.Met8799Ile)
c.26391G>C (p.Met8797Ile)
c.26379G>C (p.Met8793Ile)
c.26376G>C (p.Met8792Ile)
c.26337G>C (p.Met8779Ile)
c.26322G>C (p.Met8774Ile)
c.26307G>C (p.Met8769Ile)
c.26295G>C (p.Met8765Ile)
c.26292G>C (p.Met8764Ile)
c.26289G>C (p.Met8763Ile)
c.*112G>C (n.*112G>C)
c.26445G>C (p.Met8815Ile)
c.26433G>C (p.Met8811Ile)
c.26283G>C (p.Met8761Ile)
c.24723G>C (p.Met8241Ile)
c.24216G>C (p.Met8072Ile)
c.19683G>C (p.Met6561Ile)
c.26421G>C (p.Met8807Ile)
c.26370G>C (p.Met8790Ile)
c.26334G>C (p.Met8778Ile)
c.26181G>C (p.Met8727Ile)
6g.152122529C>TCA366088784ESR1,SYNE1c.2835G>A (p.Met945Ile)
c.26301G>A (p.Met8767Ile)
c.26157G>A (p.Met8719Ile)
c.1644G>A
c.2019G>A
c.1886G>A
c.2151G>A (n.2151G>A)
c.25086G>A (p.Met8362Ile)
n.3049G>A
c.5077G>A (n.5077G>A)
n.9993G>A
c.4180G>A (n.4180G>A)
n.9885G>A
c.851-2737C>T (n.851-2737C>T)
n.2915G>A
n.6938G>A
c.2766G>A (p.Met922Ile)
c.26448G>A (p.Met8816Ile)
c.26436G>A (p.Met8812Ile)
c.26427G>A (p.Met8809Ile)
c.26406G>A (p.Met8802Ile)
c.26397G>A (p.Met8799Ile)
c.26391G>A (p.Met8797Ile)
c.26379G>A (p.Met8793Ile)
c.26376G>A (p.Met8792Ile)
c.26337G>A (p.Met8779Ile)
c.26322G>A (p.Met8774Ile)
c.26307G>A (p.Met8769Ile)
c.26295G>A (p.Met8765Ile)
c.26292G>A (p.Met8764Ile)
c.26289G>A (p.Met8763Ile)
c.*112G>A (n.*112G>A)
c.26445G>A (p.Met8815Ile)
c.26433G>A (p.Met8811Ile)
c.26283G>A (p.Met8761Ile)
c.24723G>A (p.Met8241Ile)
c.24216G>A (p.Met8072Ile)
c.19683G>A (p.Met6561Ile)
c.26421G>A (p.Met8807Ile)
c.26370G>A (p.Met8790Ile)
c.26334G>A (p.Met8778Ile)
c.26181G>A (p.Met8727Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122530A=CA1673188936ESR1,SYNE1c.2834T= (p.Met945=)
c.26300T= (p.Met8767=)
c.26156T= (p.Met8719=)
c.1643T=
c.2018T=
c.1885T=
c.2150T= (n.2150T=)
c.25085T= (p.Met8362=)
n.3048T=
c.5076T= (n.5076T=)
n.9992T=
c.4179T= (n.4179T=)
n.9884T=
c.851-2736A= (n.851-2736A=)
n.2914T=
n.6937T=
c.2765T= (p.Met922=)
c.26447T= (p.Met8816=)
c.26435T= (p.Met8812=)
c.26426T= (p.Met8809=)
c.26405T= (p.Met8802=)
c.26396T= (p.Met8799=)
c.26390T= (p.Met8797=)
c.26378T= (p.Met8793=)
c.26375T= (p.Met8792=)
c.26336T= (p.Met8779=)
c.26321T= (p.Met8774=)
c.26306T= (p.Met8769=)
c.26294T= (p.Met8765=)
c.26291T= (p.Met8764=)
c.26288T= (p.Met8763=)
c.*111T= (n.*111T=)
c.26444T= (p.Met8815=)
c.26432T= (p.Met8811=)
c.26282T= (p.Met8761=)
c.24722T= (p.Met8241=)
c.24215T= (p.Met8072=)
c.19682T= (p.Met6561=)
c.26420T= (p.Met8807=)
c.26369T= (p.Met8790=)
c.26333T= (p.Met8778=)
c.26180T= (p.Met8727=)
6g.152122530A>CCA366088787ESR1,SYNE1c.2834T>G (p.Met945Arg)
c.26300T>G (p.Met8767Arg)
c.26156T>G (p.Met8719Arg)
c.1643T>G
c.2018T>G
c.1885T>G
c.2150T>G (n.2150T>G)
c.25085T>G (p.Met8362Arg)
n.3048T>G
c.5076T>G (n.5076T>G)
n.9992T>G
c.4179T>G (n.4179T>G)
n.9884T>G
c.851-2736A>C (n.851-2736A>C)
n.2914T>G
n.6937T>G
c.2765T>G (p.Met922Arg)
c.26447T>G (p.Met8816Arg)
c.26435T>G (p.Met8812Arg)
c.26426T>G (p.Met8809Arg)
c.26405T>G (p.Met8802Arg)
c.26396T>G (p.Met8799Arg)
c.26390T>G (p.Met8797Arg)
c.26378T>G (p.Met8793Arg)
c.26375T>G (p.Met8792Arg)
c.26336T>G (p.Met8779Arg)
c.26321T>G (p.Met8774Arg)
c.26306T>G (p.Met8769Arg)
c.26294T>G (p.Met8765Arg)
c.26291T>G (p.Met8764Arg)
c.26288T>G (p.Met8763Arg)
c.*111T>G (n.*111T>G)
c.26444T>G (p.Met8815Arg)
c.26432T>G (p.Met8811Arg)
c.26282T>G (p.Met8761Arg)
c.24722T>G (p.Met8241Arg)
c.24215T>G (p.Met8072Arg)
c.19682T>G (p.Met6561Arg)
c.26420T>G (p.Met8807Arg)
c.26369T>G (p.Met8790Arg)
c.26333T>G (p.Met8778Arg)
c.26180T>G (p.Met8727Arg)
6g.152122530A>GCA366088791ESR1,SYNE1c.2834T>C (p.Met945Thr)
c.26300T>C (p.Met8767Thr)
c.26156T>C (p.Met8719Thr)
c.1643T>C
c.2018T>C
c.1885T>C
c.2150T>C (n.2150T>C)
c.25085T>C (p.Met8362Thr)
n.3048T>C
c.5076T>C (n.5076T>C)
n.9992T>C
c.4179T>C (n.4179T>C)
n.9884T>C
c.851-2736A>G (n.851-2736A>G)
n.2914T>C
n.6937T>C
c.2765T>C (p.Met922Thr)
c.26447T>C (p.Met8816Thr)
c.26435T>C (p.Met8812Thr)
c.26426T>C (p.Met8809Thr)
c.26405T>C (p.Met8802Thr)
c.26396T>C (p.Met8799Thr)
c.26390T>C (p.Met8797Thr)
c.26378T>C (p.Met8793Thr)
c.26375T>C (p.Met8792Thr)
c.26336T>C (p.Met8779Thr)
c.26321T>C (p.Met8774Thr)
c.26306T>C (p.Met8769Thr)
c.26294T>C (p.Met8765Thr)
c.26291T>C (p.Met8764Thr)
c.26288T>C (p.Met8763Thr)
c.*111T>C (n.*111T>C)
c.26444T>C (p.Met8815Thr)
c.26432T>C (p.Met8811Thr)
c.26282T>C (p.Met8761Thr)
c.24722T>C (p.Met8241Thr)
c.24215T>C (p.Met8072Thr)
c.19682T>C (p.Met6561Thr)
c.26420T>C (p.Met8807Thr)
c.26369T>C (p.Met8790Thr)
c.26333T>C (p.Met8778Thr)
c.26180T>C (p.Met8727Thr)
 dbSNP
6g.152122530A>TCA366088789ESR1,SYNE1c.2834T>A (p.Met945Lys)
c.26300T>A (p.Met8767Lys)
c.26156T>A (p.Met8719Lys)
c.1643T>A
c.2018T>A
c.1885T>A
c.2150T>A (n.2150T>A)
c.25085T>A (p.Met8362Lys)
n.3048T>A
c.5076T>A (n.5076T>A)
n.9992T>A
c.4179T>A (n.4179T>A)
n.9884T>A
c.851-2736A>T (n.851-2736A>T)
n.2914T>A
n.6937T>A
c.2765T>A (p.Met922Lys)
c.26447T>A (p.Met8816Lys)
c.26435T>A (p.Met8812Lys)
c.26426T>A (p.Met8809Lys)
c.26405T>A (p.Met8802Lys)
c.26396T>A (p.Met8799Lys)
c.26390T>A (p.Met8797Lys)
c.26378T>A (p.Met8793Lys)
c.26375T>A (p.Met8792Lys)
c.26336T>A (p.Met8779Lys)
c.26321T>A (p.Met8774Lys)
c.26306T>A (p.Met8769Lys)
c.26294T>A (p.Met8765Lys)
c.26291T>A (p.Met8764Lys)
c.26288T>A (p.Met8763Lys)
c.*111T>A (n.*111T>A)
c.26444T>A (p.Met8815Lys)
c.26432T>A (p.Met8811Lys)
c.26282T>A (p.Met8761Lys)
c.24722T>A (p.Met8241Lys)
c.24215T>A (p.Met8072Lys)
c.19682T>A (p.Met6561Lys)
c.26420T>A (p.Met8807Lys)
c.26369T>A (p.Met8790Lys)
c.26333T>A (p.Met8778Lys)
c.26180T>A (p.Met8727Lys)
6g.152122531T>ACA4052590ESR1,SYNE1c.2833A>T (p.Met945Leu)
c.26299A>T (p.Met8767Leu)
c.26155A>T (p.Met8719Leu)
c.1642A>T
c.2017A>T
c.1884A>T
c.2149A>T (n.2149A>T)
c.25084A>T (p.Met8362Leu)
n.3047A>T
c.5075A>T (n.5075A>T)
n.9991A>T
c.4178A>T (n.4178A>T)
n.9883A>T
c.851-2735T>A (n.851-2735T>A)
n.2913A>T
n.6936A>T
c.2764A>T (p.Met922Leu)
c.26446A>T (p.Met8816Leu)
c.26434A>T (p.Met8812Leu)
c.26425A>T (p.Met8809Leu)
c.26404A>T (p.Met8802Leu)
c.26395A>T (p.Met8799Leu)
c.26389A>T (p.Met8797Leu)
c.26377A>T (p.Met8793Leu)
c.26374A>T (p.Met8792Leu)
c.26335A>T (p.Met8779Leu)
c.26320A>T (p.Met8774Leu)
c.26305A>T (p.Met8769Leu)
c.26293A>T (p.Met8765Leu)
c.26290A>T (p.Met8764Leu)
c.26287A>T (p.Met8763Leu)
c.*110A>T (n.*110A>T)
c.26443A>T (p.Met8815Leu)
c.26431A>T (p.Met8811Leu)
c.26281A>T (p.Met8761Leu)
c.24721A>T (p.Met8241Leu)
c.24214A>T (p.Met8072Leu)
c.19681A>T (p.Met6561Leu)
c.26419A>T (p.Met8807Leu)
c.26368A>T (p.Met8790Leu)
c.26332A>T (p.Met8778Leu)
c.26179A>T (p.Met8727Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122531T>CCA150189513ESR1,SYNE1c.2833A>G (p.Met945Val)
c.26299A>G (p.Met8767Val)
c.26155A>G (p.Met8719Val)
c.1642A>G
c.2017A>G
c.1884A>G
c.2149A>G (n.2149A>G)
c.25084A>G (p.Met8362Val)
n.3047A>G
c.5075A>G (n.5075A>G)
n.9991A>G
c.4178A>G (n.4178A>G)
n.9883A>G
c.851-2735T>C (n.851-2735T>C)
n.2913A>G
n.6936A>G
c.2764A>G (p.Met922Val)
c.26446A>G (p.Met8816Val)
c.26434A>G (p.Met8812Val)
c.26425A>G (p.Met8809Val)
c.26404A>G (p.Met8802Val)
c.26395A>G (p.Met8799Val)
c.26389A>G (p.Met8797Val)
c.26377A>G (p.Met8793Val)
c.26374A>G (p.Met8792Val)
c.26335A>G (p.Met8779Val)
c.26320A>G (p.Met8774Val)
c.26305A>G (p.Met8769Val)
c.26293A>G (p.Met8765Val)
c.26290A>G (p.Met8764Val)
c.26287A>G (p.Met8763Val)
c.*110A>G (n.*110A>G)
c.26443A>G (p.Met8815Val)
c.26431A>G (p.Met8811Val)
c.26281A>G (p.Met8761Val)
c.24721A>G (p.Met8241Val)
c.24214A>G (p.Met8072Val)
c.19681A>G (p.Met6561Val)
c.26419A>G (p.Met8807Val)
c.26368A>G (p.Met8790Val)
c.26332A>G (p.Met8778Val)
c.26179A>G (p.Met8727Val)
 dbSNP gnomAD v3 gnomAD v4
6g.152122531T>GCA366088795ESR1,SYNE1c.2833A>C (p.Met945Leu)
c.26299A>C (p.Met8767Leu)
c.26155A>C (p.Met8719Leu)
c.1642A>C
c.2017A>C
c.1884A>C
c.2149A>C (n.2149A>C)
c.25084A>C (p.Met8362Leu)
n.3047A>C
c.5075A>C (n.5075A>C)
n.9991A>C
c.4178A>C (n.4178A>C)
n.9883A>C
c.851-2735T>G (n.851-2735T>G)
n.2913A>C
n.6936A>C
c.2764A>C (p.Met922Leu)
c.26446A>C (p.Met8816Leu)
c.26434A>C (p.Met8812Leu)
c.26425A>C (p.Met8809Leu)
c.26404A>C (p.Met8802Leu)
c.26395A>C (p.Met8799Leu)
c.26389A>C (p.Met8797Leu)
c.26377A>C (p.Met8793Leu)
c.26374A>C (p.Met8792Leu)
c.26335A>C (p.Met8779Leu)
c.26320A>C (p.Met8774Leu)
c.26305A>C (p.Met8769Leu)
c.26293A>C (p.Met8765Leu)
c.26290A>C (p.Met8764Leu)
c.26287A>C (p.Met8763Leu)
c.*110A>C (n.*110A>C)
c.26443A>C (p.Met8815Leu)
c.26431A>C (p.Met8811Leu)
c.26281A>C (p.Met8761Leu)
c.24721A>C (p.Met8241Leu)
c.24214A>C (p.Met8072Leu)
c.19681A>C (p.Met6561Leu)
c.26419A>C (p.Met8807Leu)
c.26368A>C (p.Met8790Leu)
c.26332A>C (p.Met8778Leu)
c.26179A>C (p.Met8727Leu)
6g.152122531T=CA1673188943ESR1,SYNE1c.2833A= (p.Met945=)
c.26299A= (p.Met8767=)
c.26155A= (p.Met8719=)
c.1642A=
c.2017A=
c.1884A=
c.2149A= (n.2149A=)
c.25084A= (p.Met8362=)
n.3047A=
c.5075A= (n.5075A=)
n.9991A=
c.4178A= (n.4178A=)
n.9883A=
c.851-2735T= (n.851-2735T=)
n.2913A=
n.6936A=
c.2764A= (p.Met922=)
c.26446A= (p.Met8816=)
c.26434A= (p.Met8812=)
c.26425A= (p.Met8809=)
c.26404A= (p.Met8802=)
c.26395A= (p.Met8799=)
c.26389A= (p.Met8797=)
c.26377A= (p.Met8793=)
c.26374A= (p.Met8792=)
c.26335A= (p.Met8779=)
c.26320A= (p.Met8774=)
c.26305A= (p.Met8769=)
c.26293A= (p.Met8765=)
c.26290A= (p.Met8764=)
c.26287A= (p.Met8763=)
c.*110A= (n.*110A=)
c.26443A= (p.Met8815=)
c.26431A= (p.Met8811=)
c.26281A= (p.Met8761=)
c.24721A= (p.Met8241=)
c.24214A= (p.Met8072=)
c.19681A= (p.Met6561=)
c.26419A= (p.Met8807=)
c.26368A= (p.Met8790=)
c.26332A= (p.Met8778=)
c.26179A= (p.Met8727=)
6g.152122532T>ACA452969644ESR1,SYNE1c.2832A>T (p.Pro944=)
c.26298A>T (p.Pro8766=)
c.26154A>T (p.Pro8718=)
c.1641A>T
c.2016A>T
c.1883A>T
c.2148A>T (n.2148A>T)
c.25083A>T (p.Pro8361=)
n.3046A>T
c.5074A>T (n.5074A>T)
n.9990A>T
c.4177A>T (n.4177A>T)
n.9882A>T
c.851-2734T>A (n.851-2734T>A)
n.2912A>T
n.6935A>T
c.2763A>T (p.Pro921=)
c.26445A>T (p.Pro8815=)
c.26433A>T (p.Pro8811=)
c.26424A>T (p.Pro8808=)
c.26403A>T (p.Pro8801=)
c.26394A>T (p.Pro8798=)
c.26388A>T (p.Pro8796=)
c.26376A>T (p.Pro8792=)
c.26373A>T (p.Pro8791=)
c.26334A>T (p.Pro8778=)
c.26319A>T (p.Pro8773=)
c.26304A>T (p.Pro8768=)
c.26292A>T (p.Pro8764=)
c.26289A>T (p.Pro8763=)
c.26286A>T (p.Pro8762=)
c.*109A>T (n.*109A>T)
c.26442A>T (p.Pro8814=)
c.26430A>T (p.Pro8810=)
c.26280A>T (p.Pro8760=)
c.24720A>T (p.Pro8240=)
c.24213A>T (p.Pro8071=)
c.19680A>T (p.Pro6560=)
c.26418A>T (p.Pro8806=)
c.26367A>T (p.Pro8789=)
c.26331A>T (p.Pro8777=)
c.26178A>T (p.Pro8726=)
6g.152122532T>CCA4052591ESR1,SYNE1c.2832A>G (p.Pro944=)
c.26298A>G (p.Pro8766=)
c.26154A>G (p.Pro8718=)
c.1641A>G
c.2016A>G
c.1883A>G
c.2148A>G (n.2148A>G)
c.25083A>G (p.Pro8361=)
n.3046A>G
c.5074A>G (n.5074A>G)
n.9990A>G
c.4177A>G (n.4177A>G)
n.9882A>G
c.851-2734T>C (n.851-2734T>C)
n.2912A>G
n.6935A>G
c.2763A>G (p.Pro921=)
c.26445A>G (p.Pro8815=)
c.26433A>G (p.Pro8811=)
c.26424A>G (p.Pro8808=)
c.26403A>G (p.Pro8801=)
c.26394A>G (p.Pro8798=)
c.26388A>G (p.Pro8796=)
c.26376A>G (p.Pro8792=)
c.26373A>G (p.Pro8791=)
c.26334A>G (p.Pro8778=)
c.26319A>G (p.Pro8773=)
c.26304A>G (p.Pro8768=)
c.26292A>G (p.Pro8764=)
c.26289A>G (p.Pro8763=)
c.26286A>G (p.Pro8762=)
c.*109A>G (n.*109A>G)
c.26442A>G (p.Pro8814=)
c.26430A>G (p.Pro8810=)
c.26280A>G (p.Pro8760=)
c.24720A>G (p.Pro8240=)
c.24213A>G (p.Pro8071=)
c.19680A>G (p.Pro6560=)
c.26418A>G (p.Pro8806=)
c.26367A>G (p.Pro8789=)
c.26331A>G (p.Pro8777=)
c.26178A>G (p.Pro8726=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122532T>GCA452969645ESR1,SYNE1c.2832A>C (p.Pro944=)
c.26298A>C (p.Pro8766=)
c.26154A>C (p.Pro8718=)
c.1641A>C
c.2016A>C
c.1883A>C
c.2148A>C (n.2148A>C)
c.25083A>C (p.Pro8361=)
n.3046A>C
c.5074A>C (n.5074A>C)
n.9990A>C
c.4177A>C (n.4177A>C)
n.9882A>C
c.851-2734T>G (n.851-2734T>G)
n.2912A>C
n.6935A>C
c.2763A>C (p.Pro921=)
c.26445A>C (p.Pro8815=)
c.26433A>C (p.Pro8811=)
c.26424A>C (p.Pro8808=)
c.26403A>C (p.Pro8801=)
c.26394A>C (p.Pro8798=)
c.26388A>C (p.Pro8796=)
c.26376A>C (p.Pro8792=)
c.26373A>C (p.Pro8791=)
c.26334A>C (p.Pro8778=)
c.26319A>C (p.Pro8773=)
c.26304A>C (p.Pro8768=)
c.26292A>C (p.Pro8764=)
c.26289A>C (p.Pro8763=)
c.26286A>C (p.Pro8762=)
c.*109A>C (n.*109A>C)
c.26442A>C (p.Pro8814=)
c.26430A>C (p.Pro8810=)
c.26280A>C (p.Pro8760=)
c.24720A>C (p.Pro8240=)
c.24213A>C (p.Pro8071=)
c.19680A>C (p.Pro6560=)
c.26418A>C (p.Pro8806=)
c.26367A>C (p.Pro8789=)
c.26331A>C (p.Pro8777=)
c.26178A>C (p.Pro8726=)
 gnomAD v4
6g.152122532T=CA1673188953ESR1,SYNE1c.2832A= (p.Pro944=)
c.26298A= (p.Pro8766=)
c.26154A= (p.Pro8718=)
c.1641A=
c.2016A=
c.1883A=
c.2148A= (n.2148A=)
c.25083A= (p.Pro8361=)
n.3046A=
c.5074A= (n.5074A=)
n.9990A=
c.4177A= (n.4177A=)
n.9882A=
c.851-2734T= (n.851-2734T=)
n.2912A=
n.6935A=
c.2763A= (p.Pro921=)
c.26445A= (p.Pro8815=)
c.26433A= (p.Pro8811=)
c.26424A= (p.Pro8808=)
c.26403A= (p.Pro8801=)
c.26394A= (p.Pro8798=)
c.26388A= (p.Pro8796=)
c.26376A= (p.Pro8792=)
c.26373A= (p.Pro8791=)
c.26334A= (p.Pro8778=)
c.26319A= (p.Pro8773=)
c.26304A= (p.Pro8768=)
c.26292A= (p.Pro8764=)
c.26289A= (p.Pro8763=)
c.26286A= (p.Pro8762=)
c.*109A= (n.*109A=)
c.26442A= (p.Pro8814=)
c.26430A= (p.Pro8810=)
c.26280A= (p.Pro8760=)
c.24720A= (p.Pro8240=)
c.24213A= (p.Pro8071=)
c.19680A= (p.Pro6560=)
c.26418A= (p.Pro8806=)
c.26367A= (p.Pro8789=)
c.26331A= (p.Pro8777=)
c.26178A= (p.Pro8726=)
6g.152122533G>ACA366088798ESR1,SYNE1c.2831C>T (p.Pro944Leu)
c.26297C>T (p.Pro8766Leu)
c.26153C>T (p.Pro8718Leu)
c.1640C>T
c.2015C>T
c.1882C>T
c.2147C>T (n.2147C>T)
c.25082C>T (p.Pro8361Leu)
n.3045C>T
c.5073C>T (n.5073C>T)
n.9989C>T
c.4176C>T (n.4176C>T)
n.9881C>T
c.851-2733G>A (n.851-2733G>A)
n.2911C>T
n.6934C>T
c.2762C>T (p.Pro921Leu)
c.26444C>T (p.Pro8815Leu)
c.26432C>T (p.Pro8811Leu)
c.26423C>T (p.Pro8808Leu)
c.26402C>T (p.Pro8801Leu)
c.26393C>T (p.Pro8798Leu)
c.26387C>T (p.Pro8796Leu)
c.26375C>T (p.Pro8792Leu)
c.26372C>T (p.Pro8791Leu)
c.26333C>T (p.Pro8778Leu)
c.26318C>T (p.Pro8773Leu)
c.26303C>T (p.Pro8768Leu)
c.26291C>T (p.Pro8764Leu)
c.26288C>T (p.Pro8763Leu)
c.26285C>T (p.Pro8762Leu)
c.*108C>T (n.*108C>T)
c.26441C>T (p.Pro8814Leu)
c.26429C>T (p.Pro8810Leu)
c.26279C>T (p.Pro8760Leu)
c.24719C>T (p.Pro8240Leu)
c.24212C>T (p.Pro8071Leu)
c.19679C>T (p.Pro6560Leu)
c.26417C>T (p.Pro8806Leu)
c.26366C>T (p.Pro8789Leu)
c.26330C>T (p.Pro8777Leu)
c.26177C>T (p.Pro8726Leu)
6g.152122533G>CCA366088799ESR1,SYNE1c.2831C>G (p.Pro944Arg)
c.26297C>G (p.Pro8766Arg)
c.26153C>G (p.Pro8718Arg)
c.1640C>G
c.2015C>G
c.1882C>G
c.2147C>G (n.2147C>G)
c.25082C>G (p.Pro8361Arg)
n.3045C>G
c.5073C>G (n.5073C>G)
n.9989C>G
c.4176C>G (n.4176C>G)
n.9881C>G
c.851-2733G>C (n.851-2733G>C)
n.2911C>G
n.6934C>G
c.2762C>G (p.Pro921Arg)
c.26444C>G (p.Pro8815Arg)
c.26432C>G (p.Pro8811Arg)
c.26423C>G (p.Pro8808Arg)
c.26402C>G (p.Pro8801Arg)
c.26393C>G (p.Pro8798Arg)
c.26387C>G (p.Pro8796Arg)
c.26375C>G (p.Pro8792Arg)
c.26372C>G (p.Pro8791Arg)
c.26333C>G (p.Pro8778Arg)
c.26318C>G (p.Pro8773Arg)
c.26303C>G (p.Pro8768Arg)
c.26291C>G (p.Pro8764Arg)
c.26288C>G (p.Pro8763Arg)
c.26285C>G (p.Pro8762Arg)
c.*108C>G (n.*108C>G)
c.26441C>G (p.Pro8814Arg)
c.26429C>G (p.Pro8810Arg)
c.26279C>G (p.Pro8760Arg)
c.24719C>G (p.Pro8240Arg)
c.24212C>G (p.Pro8071Arg)
c.19679C>G (p.Pro6560Arg)
c.26417C>G (p.Pro8806Arg)
c.26366C>G (p.Pro8789Arg)
c.26330C>G (p.Pro8777Arg)
c.26177C>G (p.Pro8726Arg)
6g.152122533G>TCA366088800ESR1,SYNE1c.2831C>A (p.Pro944Gln)
c.26297C>A (p.Pro8766Gln)
c.26153C>A (p.Pro8718Gln)
c.1640C>A
c.2015C>A
c.1882C>A
c.2147C>A (n.2147C>A)
c.25082C>A (p.Pro8361Gln)
n.3045C>A
c.5073C>A (n.5073C>A)
n.9989C>A
c.4176C>A (n.4176C>A)
n.9881C>A
c.851-2733G>T (n.851-2733G>T)
n.2911C>A
n.6934C>A
c.2762C>A (p.Pro921Gln)
c.26444C>A (p.Pro8815Gln)
c.26432C>A (p.Pro8811Gln)
c.26423C>A (p.Pro8808Gln)
c.26402C>A (p.Pro8801Gln)
c.26393C>A (p.Pro8798Gln)
c.26387C>A (p.Pro8796Gln)
c.26375C>A (p.Pro8792Gln)
c.26372C>A (p.Pro8791Gln)
c.26333C>A (p.Pro8778Gln)
c.26318C>A (p.Pro8773Gln)
c.26303C>A (p.Pro8768Gln)
c.26291C>A (p.Pro8764Gln)
c.26288C>A (p.Pro8763Gln)
c.26285C>A (p.Pro8762Gln)
c.*108C>A (n.*108C>A)
c.26441C>A (p.Pro8814Gln)
c.26429C>A (p.Pro8810Gln)
c.26279C>A (p.Pro8760Gln)
c.24719C>A (p.Pro8240Gln)
c.24212C>A (p.Pro8071Gln)
c.19679C>A (p.Pro6560Gln)
c.26417C>A (p.Pro8806Gln)
c.26366C>A (p.Pro8789Gln)
c.26330C>A (p.Pro8777Gln)
c.26177C>A (p.Pro8726Gln)
6g.152122534G>ACA366088802ESR1,SYNE1c.2830C>T (p.Pro944Ser)
c.26296C>T (p.Pro8766Ser)
c.26152C>T (p.Pro8718Ser)
c.1639C>T
c.2014C>T
c.1881C>T
c.2146C>T (n.2146C>T)
c.25081C>T (p.Pro8361Ser)
n.3044C>T
c.5072C>T (n.5072C>T)
n.9988C>T
c.4175C>T (n.4175C>T)
n.9880C>T
c.851-2732G>A (n.851-2732G>A)
n.2910C>T
n.6933C>T
c.2761C>T (p.Pro921Ser)
c.26443C>T (p.Pro8815Ser)
c.26431C>T (p.Pro8811Ser)
c.26422C>T (p.Pro8808Ser)
c.26401C>T (p.Pro8801Ser)
c.26392C>T (p.Pro8798Ser)
c.26386C>T (p.Pro8796Ser)
c.26374C>T (p.Pro8792Ser)
c.26371C>T (p.Pro8791Ser)
c.26332C>T (p.Pro8778Ser)
c.26317C>T (p.Pro8773Ser)
c.26302C>T (p.Pro8768Ser)
c.26290C>T (p.Pro8764Ser)
c.26287C>T (p.Pro8763Ser)
c.26284C>T (p.Pro8762Ser)
c.*107C>T (n.*107C>T)
c.26440C>T (p.Pro8814Ser)
c.26428C>T (p.Pro8810Ser)
c.26278C>T (p.Pro8760Ser)
c.24718C>T (p.Pro8240Ser)
c.24211C>T (p.Pro8071Ser)
c.19678C>T (p.Pro6560Ser)
c.26416C>T (p.Pro8806Ser)
c.26365C>T (p.Pro8789Ser)
c.26329C>T (p.Pro8777Ser)
c.26176C>T (p.Pro8726Ser)
6g.152122534G>CCA366088803ESR1,SYNE1c.2830C>G (p.Pro944Ala)
c.26296C>G (p.Pro8766Ala)
c.26152C>G (p.Pro8718Ala)
c.1639C>G
c.2014C>G
c.1881C>G
c.2146C>G (n.2146C>G)
c.25081C>G (p.Pro8361Ala)
n.3044C>G
c.5072C>G (n.5072C>G)
n.9988C>G
c.4175C>G (n.4175C>G)
n.9880C>G
c.851-2732G>C (n.851-2732G>C)
n.2910C>G
n.6933C>G
c.2761C>G (p.Pro921Ala)
c.26443C>G (p.Pro8815Ala)
c.26431C>G (p.Pro8811Ala)
c.26422C>G (p.Pro8808Ala)
c.26401C>G (p.Pro8801Ala)
c.26392C>G (p.Pro8798Ala)
c.26386C>G (p.Pro8796Ala)
c.26374C>G (p.Pro8792Ala)
c.26371C>G (p.Pro8791Ala)
c.26332C>G (p.Pro8778Ala)
c.26317C>G (p.Pro8773Ala)
c.26302C>G (p.Pro8768Ala)
c.26290C>G (p.Pro8764Ala)
c.26287C>G (p.Pro8763Ala)
c.26284C>G (p.Pro8762Ala)
c.*107C>G (n.*107C>G)
c.26440C>G (p.Pro8814Ala)
c.26428C>G (p.Pro8810Ala)
c.26278C>G (p.Pro8760Ala)
c.24718C>G (p.Pro8240Ala)
c.24211C>G (p.Pro8071Ala)
c.19678C>G (p.Pro6560Ala)
c.26416C>G (p.Pro8806Ala)
c.26365C>G (p.Pro8789Ala)
c.26329C>G (p.Pro8777Ala)
c.26176C>G (p.Pro8726Ala)
6g.152122534G>TCA366088804ESR1,SYNE1c.2830C>A (p.Pro944Thr)
c.26296C>A (p.Pro8766Thr)
c.26152C>A (p.Pro8718Thr)
c.1639C>A
c.2014C>A
c.1881C>A
c.2146C>A (n.2146C>A)
c.25081C>A (p.Pro8361Thr)
n.3044C>A
c.5072C>A (n.5072C>A)
n.9988C>A
c.4175C>A (n.4175C>A)
n.9880C>A
c.851-2732G>T (n.851-2732G>T)
n.2910C>A
n.6933C>A
c.2761C>A (p.Pro921Thr)
c.26443C>A (p.Pro8815Thr)
c.26431C>A (p.Pro8811Thr)
c.26422C>A (p.Pro8808Thr)
c.26401C>A (p.Pro8801Thr)
c.26392C>A (p.Pro8798Thr)
c.26386C>A (p.Pro8796Thr)
c.26374C>A (p.Pro8792Thr)
c.26371C>A (p.Pro8791Thr)
c.26332C>A (p.Pro8778Thr)
c.26317C>A (p.Pro8773Thr)
c.26302C>A (p.Pro8768Thr)
c.26290C>A (p.Pro8764Thr)
c.26287C>A (p.Pro8763Thr)
c.26284C>A (p.Pro8762Thr)
c.*107C>A (n.*107C>A)
c.26440C>A (p.Pro8814Thr)
c.26428C>A (p.Pro8810Thr)
c.26278C>A (p.Pro8760Thr)
c.24718C>A (p.Pro8240Thr)
c.24211C>A (p.Pro8071Thr)
c.19678C>A (p.Pro6560Thr)
c.26416C>A (p.Pro8806Thr)
c.26365C>A (p.Pro8789Thr)
c.26329C>A (p.Pro8777Thr)
c.26176C>A (p.Pro8726Thr)
6g.152122535T>ACA452969651ESR1,SYNE1c.2829A>T (p.Val943=)
c.26295A>T (p.Val8765=)
c.26151A>T (p.Val8717=)
c.1638A>T
c.2013A>T
c.1880A>T
c.2145A>T (n.2145A>T)
c.25080A>T (p.Val8360=)
n.3043A>T
c.5071A>T (n.5071A>T)
n.9987A>T
c.4174A>T (n.4174A>T)
n.9879A>T
c.851-2731T>A (n.851-2731T>A)
n.2909A>T
n.6932A>T
c.2760A>T (p.Val920=)
c.26442A>T (p.Val8814=)
c.26430A>T (p.Val8810=)
c.26421A>T (p.Val8807=)
c.26400A>T (p.Val8800=)
c.26391A>T (p.Val8797=)
c.26385A>T (p.Val8795=)
c.26373A>T (p.Val8791=)
c.26370A>T (p.Val8790=)
c.26331A>T (p.Val8777=)
c.26316A>T (p.Val8772=)
c.26301A>T (p.Val8767=)
c.26289A>T (p.Val8763=)
c.26286A>T (p.Val8762=)
c.26283A>T (p.Val8761=)
c.*106A>T (n.*106A>T)
c.26439A>T (p.Val8813=)
c.26427A>T (p.Val8809=)
c.26277A>T (p.Val8759=)
c.24717A>T (p.Val8239=)
c.24210A>T (p.Val8070=)
c.19677A>T (p.Val6559=)
c.26415A>T (p.Val8805=)
c.26364A>T (p.Val8788=)
c.26328A>T (p.Val8776=)
c.26175A>T (p.Val8725=)
6g.152122535T>CCA452969652ESR1,SYNE1c.2829A>G (p.Val943=)
c.26295A>G (p.Val8765=)
c.26151A>G (p.Val8717=)
c.1638A>G
c.2013A>G
c.1880A>G
c.2145A>G (n.2145A>G)
c.25080A>G (p.Val8360=)
n.3043A>G
c.5071A>G (n.5071A>G)
n.9987A>G
c.4174A>G (n.4174A>G)
n.9879A>G
c.851-2731T>C (n.851-2731T>C)
n.2909A>G
n.6932A>G
c.2760A>G (p.Val920=)
c.26442A>G (p.Val8814=)
c.26430A>G (p.Val8810=)
c.26421A>G (p.Val8807=)
c.26400A>G (p.Val8800=)
c.26391A>G (p.Val8797=)
c.26385A>G (p.Val8795=)
c.26373A>G (p.Val8791=)
c.26370A>G (p.Val8790=)
c.26331A>G (p.Val8777=)
c.26316A>G (p.Val8772=)
c.26301A>G (p.Val8767=)
c.26289A>G (p.Val8763=)
c.26286A>G (p.Val8762=)
c.26283A>G (p.Val8761=)
c.*106A>G (n.*106A>G)
c.26439A>G (p.Val8813=)
c.26427A>G (p.Val8809=)
c.26277A>G (p.Val8759=)
c.24717A>G (p.Val8239=)
c.24210A>G (p.Val8070=)
c.19677A>G (p.Val6559=)
c.26415A>G (p.Val8805=)
c.26364A>G (p.Val8788=)
c.26328A>G (p.Val8776=)
c.26175A>G (p.Val8725=)
6g.152122535T>GCA452969653ESR1,SYNE1c.2829A>C (p.Val943=)
c.26295A>C (p.Val8765=)
c.26151A>C (p.Val8717=)
c.1638A>C
c.2013A>C
c.1880A>C
c.2145A>C (n.2145A>C)
c.25080A>C (p.Val8360=)
n.3043A>C
c.5071A>C (n.5071A>C)
n.9987A>C
c.4174A>C (n.4174A>C)
n.9879A>C
c.851-2731T>G (n.851-2731T>G)
n.2909A>C
n.6932A>C
c.2760A>C (p.Val920=)
c.26442A>C (p.Val8814=)
c.26430A>C (p.Val8810=)
c.26421A>C (p.Val8807=)
c.26400A>C (p.Val8800=)
c.26391A>C (p.Val8797=)
c.26385A>C (p.Val8795=)
c.26373A>C (p.Val8791=)
c.26370A>C (p.Val8790=)
c.26331A>C (p.Val8777=)
c.26316A>C (p.Val8772=)
c.26301A>C (p.Val8767=)
c.26289A>C (p.Val8763=)
c.26286A>C (p.Val8762=)
c.26283A>C (p.Val8761=)
c.*106A>C (n.*106A>C)
c.26439A>C (p.Val8813=)
c.26427A>C (p.Val8809=)
c.26277A>C (p.Val8759=)
c.24717A>C (p.Val8239=)
c.24210A>C (p.Val8070=)
c.19677A>C (p.Val6559=)
c.26415A>C (p.Val8805=)
c.26364A>C (p.Val8788=)
c.26328A>C (p.Val8776=)
c.26175A>C (p.Val8725=)
6g.152122536A>CCA366088806ESR1,SYNE1c.2828T>G (p.Val943Gly)
c.26294T>G (p.Val8765Gly)
c.26150T>G (p.Val8717Gly)
c.1637T>G
c.2012T>G
c.1879T>G
c.2144T>G (n.2144T>G)
c.25079T>G (p.Val8360Gly)
n.3042T>G
c.5070T>G (n.5070T>G)
n.9986T>G
c.4173T>G (n.4173T>G)
n.9878T>G
c.851-2730A>C (n.851-2730A>C)
n.2908T>G
n.6931T>G
c.2759T>G (p.Val920Gly)
c.26441T>G (p.Val8814Gly)
c.26429T>G (p.Val8810Gly)
c.26420T>G (p.Val8807Gly)
c.26399T>G (p.Val8800Gly)
c.26390T>G (p.Val8797Gly)
c.26384T>G (p.Val8795Gly)
c.26372T>G (p.Val8791Gly)
c.26369T>G (p.Val8790Gly)
c.26330T>G (p.Val8777Gly)
c.26315T>G (p.Val8772Gly)
c.26300T>G (p.Val8767Gly)
c.26288T>G (p.Val8763Gly)
c.26285T>G (p.Val8762Gly)
c.26282T>G (p.Val8761Gly)
c.*105T>G (n.*105T>G)
c.26438T>G (p.Val8813Gly)
c.26426T>G (p.Val8809Gly)
c.26276T>G (p.Val8759Gly)
c.24716T>G (p.Val8239Gly)
c.24209T>G (p.Val8070Gly)
c.19676T>G (p.Val6559Gly)
c.26414T>G (p.Val8805Gly)
c.26363T>G (p.Val8788Gly)
c.26327T>G (p.Val8776Gly)
c.26174T>G (p.Val8725Gly)
6g.152122536A>GCA366088807ESR1,SYNE1c.2828T>C (p.Val943Ala)
c.26294T>C (p.Val8765Ala)
c.26150T>C (p.Val8717Ala)
c.1637T>C
c.2012T>C
c.1879T>C
c.2144T>C (n.2144T>C)
c.25079T>C (p.Val8360Ala)
n.3042T>C
c.5070T>C (n.5070T>C)
n.9986T>C
c.4173T>C (n.4173T>C)
n.9878T>C
c.851-2730A>G (n.851-2730A>G)
n.2908T>C
n.6931T>C
c.2759T>C (p.Val920Ala)
c.26441T>C (p.Val8814Ala)
c.26429T>C (p.Val8810Ala)
c.26420T>C (p.Val8807Ala)
c.26399T>C (p.Val8800Ala)
c.26390T>C (p.Val8797Ala)
c.26384T>C (p.Val8795Ala)
c.26372T>C (p.Val8791Ala)
c.26369T>C (p.Val8790Ala)
c.26330T>C (p.Val8777Ala)
c.26315T>C (p.Val8772Ala)
c.26300T>C (p.Val8767Ala)
c.26288T>C (p.Val8763Ala)
c.26285T>C (p.Val8762Ala)
c.26282T>C (p.Val8761Ala)
c.*105T>C (n.*105T>C)
c.26438T>C (p.Val8813Ala)
c.26426T>C (p.Val8809Ala)
c.26276T>C (p.Val8759Ala)
c.24716T>C (p.Val8239Ala)
c.24209T>C (p.Val8070Ala)
c.19676T>C (p.Val6559Ala)
c.26414T>C (p.Val8805Ala)
c.26363T>C (p.Val8788Ala)
c.26327T>C (p.Val8776Ala)
c.26174T>C (p.Val8725Ala)
6g.152122536A>TCA366088805ESR1,SYNE1c.2828T>A (p.Val943Glu)
c.26294T>A (p.Val8765Glu)
c.26150T>A (p.Val8717Glu)
c.1637T>A
c.2012T>A
c.1879T>A
c.2144T>A (n.2144T>A)
c.25079T>A (p.Val8360Glu)
n.3042T>A
c.5070T>A (n.5070T>A)
n.9986T>A
c.4173T>A (n.4173T>A)
n.9878T>A
c.851-2730A>T (n.851-2730A>T)
n.2908T>A
n.6931T>A
c.2759T>A (p.Val920Glu)
c.26441T>A (p.Val8814Glu)
c.26429T>A (p.Val8810Glu)
c.26420T>A (p.Val8807Glu)
c.26399T>A (p.Val8800Glu)
c.26390T>A (p.Val8797Glu)
c.26384T>A (p.Val8795Glu)
c.26372T>A (p.Val8791Glu)
c.26369T>A (p.Val8790Glu)
c.26330T>A (p.Val8777Glu)
c.26315T>A (p.Val8772Glu)
c.26300T>A (p.Val8767Glu)
c.26288T>A (p.Val8763Glu)
c.26285T>A (p.Val8762Glu)
c.26282T>A (p.Val8761Glu)
c.*105T>A (n.*105T>A)
c.26438T>A (p.Val8813Glu)
c.26426T>A (p.Val8809Glu)
c.26276T>A (p.Val8759Glu)
c.24716T>A (p.Val8239Glu)
c.24209T>A (p.Val8070Glu)
c.19676T>A (p.Val6559Glu)
c.26414T>A (p.Val8805Glu)
c.26363T>A (p.Val8788Glu)
c.26327T>A (p.Val8776Glu)
c.26174T>A (p.Val8725Glu)
6g.152122537C>ACA366088808ESR1,SYNE1c.2827G>T (p.Val943Leu)
c.26293G>T (p.Val8765Leu)
c.26149G>T (p.Val8717Leu)
c.1636G>T
c.2011G>T
c.1878G>T
c.2143G>T (n.2143G>T)
c.25078G>T (p.Val8360Leu)
n.3041G>T
c.5069G>T (n.5069G>T)
n.9985G>T
c.4172G>T (n.4172G>T)
n.9877G>T
c.851-2729C>A (n.851-2729C>A)
n.2907G>T
n.6930G>T
c.2758G>T (p.Val920Leu)
c.26440G>T (p.Val8814Leu)
c.26428G>T (p.Val8810Leu)
c.26419G>T (p.Val8807Leu)
c.26398G>T (p.Val8800Leu)
c.26389G>T (p.Val8797Leu)
c.26383G>T (p.Val8795Leu)
c.26371G>T (p.Val8791Leu)
c.26368G>T (p.Val8790Leu)
c.26329G>T (p.Val8777Leu)
c.26314G>T (p.Val8772Leu)
c.26299G>T (p.Val8767Leu)
c.26287G>T (p.Val8763Leu)
c.26284G>T (p.Val8762Leu)
c.26281G>T (p.Val8761Leu)
c.*104G>T (n.*104G>T)
c.26437G>T (p.Val8813Leu)
c.26425G>T (p.Val8809Leu)
c.26275G>T (p.Val8759Leu)
c.24715G>T (p.Val8239Leu)
c.24208G>T (p.Val8070Leu)
c.19675G>T (p.Val6559Leu)
c.26413G>T (p.Val8805Leu)
c.26362G>T (p.Val8788Leu)
c.26326G>T (p.Val8776Leu)
c.26173G>T (p.Val8725Leu)
6g.152122537C>GCA366088809ESR1,SYNE1c.2827G>C (p.Val943Leu)
c.26293G>C (p.Val8765Leu)
c.26149G>C (p.Val8717Leu)
c.1636G>C
c.2011G>C
c.1878G>C
c.2143G>C (n.2143G>C)
c.25078G>C (p.Val8360Leu)
n.3041G>C
c.5069G>C (n.5069G>C)
n.9985G>C
c.4172G>C (n.4172G>C)
n.9877G>C
c.851-2729C>G (n.851-2729C>G)
n.2907G>C
n.6930G>C
c.2758G>C (p.Val920Leu)
c.26440G>C (p.Val8814Leu)
c.26428G>C (p.Val8810Leu)
c.26419G>C (p.Val8807Leu)
c.26398G>C (p.Val8800Leu)
c.26389G>C (p.Val8797Leu)
c.26383G>C (p.Val8795Leu)
c.26371G>C (p.Val8791Leu)
c.26368G>C (p.Val8790Leu)
c.26329G>C (p.Val8777Leu)
c.26314G>C (p.Val8772Leu)
c.26299G>C (p.Val8767Leu)
c.26287G>C (p.Val8763Leu)
c.26284G>C (p.Val8762Leu)
c.26281G>C (p.Val8761Leu)
c.*104G>C (n.*104G>C)
c.26437G>C (p.Val8813Leu)
c.26425G>C (p.Val8809Leu)
c.26275G>C (p.Val8759Leu)
c.24715G>C (p.Val8239Leu)
c.24208G>C (p.Val8070Leu)
c.19675G>C (p.Val6559Leu)
c.26413G>C (p.Val8805Leu)
c.26362G>C (p.Val8788Leu)
c.26326G>C (p.Val8776Leu)
c.26173G>C (p.Val8725Leu)
6g.152122537C>TCA366088810ESR1,SYNE1c.2827G>A (p.Val943Ile)
c.26293G>A (p.Val8765Ile)
c.26149G>A (p.Val8717Ile)
c.1636G>A
c.2011G>A
c.1878G>A
c.2143G>A (n.2143G>A)
c.25078G>A (p.Val8360Ile)
n.3041G>A
c.5069G>A (n.5069G>A)
n.9985G>A
c.4172G>A (n.4172G>A)
n.9877G>A
c.851-2729C>T (n.851-2729C>T)
n.2907G>A
n.6930G>A
c.2758G>A (p.Val920Ile)
c.26440G>A (p.Val8814Ile)
c.26428G>A (p.Val8810Ile)
c.26419G>A (p.Val8807Ile)
c.26398G>A (p.Val8800Ile)
c.26389G>A (p.Val8797Ile)
c.26383G>A (p.Val8795Ile)
c.26371G>A (p.Val8791Ile)
c.26368G>A (p.Val8790Ile)
c.26329G>A (p.Val8777Ile)
c.26314G>A (p.Val8772Ile)
c.26299G>A (p.Val8767Ile)
c.26287G>A (p.Val8763Ile)
c.26284G>A (p.Val8762Ile)
c.26281G>A (p.Val8761Ile)
c.*104G>A (n.*104G>A)
c.26437G>A (p.Val8813Ile)
c.26425G>A (p.Val8809Ile)
c.26275G>A (p.Val8759Ile)
c.24715G>A (p.Val8239Ile)
c.24208G>A (p.Val8070Ile)
c.19675G>A (p.Val6559Ile)
c.26413G>A (p.Val8805Ile)
c.26362G>A (p.Val8788Ile)
c.26326G>A (p.Val8776Ile)
c.26173G>A (p.Val8725Ile)
 gnomAD v4
6g.152122538A>CCA452969660ESR1,SYNE1c.2826T>G (p.Leu942=)
c.26292T>G (p.Leu8764=)
c.26148T>G (p.Leu8716=)
c.1635T>G
c.2010T>G
c.1877T>G
c.2142T>G (n.2142T>G)
c.25077T>G (p.Leu8359=)
n.3040T>G
c.5068T>G (n.5068T>G)
n.9984T>G
c.4171T>G (n.4171T>G)
n.9876T>G
c.851-2728A>C (n.851-2728A>C)
n.2906T>G
n.6929T>G
c.2757T>G (p.Leu919=)
c.26439T>G (p.Leu8813=)
c.26427T>G (p.Leu8809=)
c.26418T>G (p.Leu8806=)
c.26397T>G (p.Leu8799=)
c.26388T>G (p.Leu8796=)
c.26382T>G (p.Leu8794=)
c.26370T>G (p.Leu8790=)
c.26367T>G (p.Leu8789=)
c.26328T>G (p.Leu8776=)
c.26313T>G (p.Leu8771=)
c.26298T>G (p.Leu8766=)
c.26286T>G (p.Leu8762=)
c.26283T>G (p.Leu8761=)
c.26280T>G (p.Leu8760=)
c.*103T>G (n.*103T>G)
c.26436T>G (p.Leu8812=)
c.26424T>G (p.Leu8808=)
c.26274T>G (p.Leu8758=)
c.24714T>G (p.Leu8238=)
c.24207T>G (p.Leu8069=)
c.19674T>G (p.Leu6558=)
c.26412T>G (p.Leu8804=)
c.26361T>G (p.Leu8787=)
c.26325T>G (p.Leu8775=)
c.26172T>G (p.Leu8724=)
6g.152122538A>GCA452969658ESR1,SYNE1c.2826T>C (p.Leu942=)
c.26292T>C (p.Leu8764=)
c.26148T>C (p.Leu8716=)
c.1635T>C
c.2010T>C
c.1877T>C
c.2142T>C (n.2142T>C)
c.25077T>C (p.Leu8359=)
n.3040T>C
c.5068T>C (n.5068T>C)
n.9984T>C
c.4171T>C (n.4171T>C)
n.9876T>C
c.851-2728A>G (n.851-2728A>G)
n.2906T>C
n.6929T>C
c.2757T>C (p.Leu919=)
c.26439T>C (p.Leu8813=)
c.26427T>C (p.Leu8809=)
c.26418T>C (p.Leu8806=)
c.26397T>C (p.Leu8799=)
c.26388T>C (p.Leu8796=)
c.26382T>C (p.Leu8794=)
c.26370T>C (p.Leu8790=)
c.26367T>C (p.Leu8789=)
c.26328T>C (p.Leu8776=)
c.26313T>C (p.Leu8771=)
c.26298T>C (p.Leu8766=)
c.26286T>C (p.Leu8762=)
c.26283T>C (p.Leu8761=)
c.26280T>C (p.Leu8760=)
c.*103T>C (n.*103T>C)
c.26436T>C (p.Leu8812=)
c.26424T>C (p.Leu8808=)
c.26274T>C (p.Leu8758=)
c.24714T>C (p.Leu8238=)
c.24207T>C (p.Leu8069=)
c.19674T>C (p.Leu6558=)
c.26412T>C (p.Leu8804=)
c.26361T>C (p.Leu8787=)
c.26325T>C (p.Leu8775=)
c.26172T>C (p.Leu8724=)
6g.152122538A>TCA452969659ESR1,SYNE1c.2826T>A (p.Leu942=)
c.26292T>A (p.Leu8764=)
c.26148T>A (p.Leu8716=)
c.1635T>A
c.2010T>A
c.1877T>A
c.2142T>A (n.2142T>A)
c.25077T>A (p.Leu8359=)
n.3040T>A
c.5068T>A (n.5068T>A)
n.9984T>A
c.4171T>A (n.4171T>A)
n.9876T>A
c.851-2728A>T (n.851-2728A>T)
n.2906T>A
n.6929T>A
c.2757T>A (p.Leu919=)
c.26439T>A (p.Leu8813=)
c.26427T>A (p.Leu8809=)
c.26418T>A (p.Leu8806=)
c.26397T>A (p.Leu8799=)
c.26388T>A (p.Leu8796=)
c.26382T>A (p.Leu8794=)
c.26370T>A (p.Leu8790=)
c.26367T>A (p.Leu8789=)
c.26328T>A (p.Leu8776=)
c.26313T>A (p.Leu8771=)
c.26298T>A (p.Leu8766=)
c.26286T>A (p.Leu8762=)
c.26283T>A (p.Leu8761=)
c.26280T>A (p.Leu8760=)
c.*103T>A (n.*103T>A)
c.26436T>A (p.Leu8812=)
c.26424T>A (p.Leu8808=)
c.26274T>A (p.Leu8758=)
c.24714T>A (p.Leu8238=)
c.24207T>A (p.Leu8069=)
c.19674T>A (p.Leu6558=)
c.26412T>A (p.Leu8804=)
c.26361T>A (p.Leu8787=)
c.26325T>A (p.Leu8775=)
c.26172T>A (p.Leu8724=)
6g.152122539A>CCA366088811ESR1,SYNE1c.2825T>G (p.Leu942Arg)
c.26291T>G (p.Leu8764Arg)
c.26147T>G (p.Leu8716Arg)
c.1634T>G
c.2009T>G
c.1876T>G
c.2141T>G (n.2141T>G)
c.25076T>G (p.Leu8359Arg)
n.3039T>G
c.5067T>G (n.5067T>G)
n.9983T>G
c.4170T>G (n.4170T>G)
n.9875T>G
c.851-2727A>C (n.851-2727A>C)
n.2905T>G
n.6928T>G
c.2756T>G (p.Leu919Arg)
c.26438T>G (p.Leu8813Arg)
c.26426T>G (p.Leu8809Arg)
c.26417T>G (p.Leu8806Arg)
c.26396T>G (p.Leu8799Arg)
c.26387T>G (p.Leu8796Arg)
c.26381T>G (p.Leu8794Arg)
c.26369T>G (p.Leu8790Arg)
c.26366T>G (p.Leu8789Arg)
c.26327T>G (p.Leu8776Arg)
c.26312T>G (p.Leu8771Arg)
c.26297T>G (p.Leu8766Arg)
c.26285T>G (p.Leu8762Arg)
c.26282T>G (p.Leu8761Arg)
c.26279T>G (p.Leu8760Arg)
c.*102T>G (n.*102T>G)
c.26435T>G (p.Leu8812Arg)
c.26423T>G (p.Leu8808Arg)
c.26273T>G (p.Leu8758Arg)
c.24713T>G (p.Leu8238Arg)
c.24206T>G (p.Leu8069Arg)
c.19673T>G (p.Leu6558Arg)
c.26411T>G (p.Leu8804Arg)
c.26360T>G (p.Leu8787Arg)
c.26324T>G (p.Leu8775Arg)
c.26171T>G (p.Leu8724Arg)
6g.152122539A>GCA366088812ESR1,SYNE1c.2825T>C (p.Leu942Pro)
c.26291T>C (p.Leu8764Pro)
c.26147T>C (p.Leu8716Pro)
c.1634T>C
c.2009T>C
c.1876T>C
c.2141T>C (n.2141T>C)
c.25076T>C (p.Leu8359Pro)
n.3039T>C
c.5067T>C (n.5067T>C)
n.9983T>C
c.4170T>C (n.4170T>C)
n.9875T>C
c.851-2727A>G (n.851-2727A>G)
n.2905T>C
n.6928T>C
c.2756T>C (p.Leu919Pro)
c.26438T>C (p.Leu8813Pro)
c.26426T>C (p.Leu8809Pro)
c.26417T>C (p.Leu8806Pro)
c.26396T>C (p.Leu8799Pro)
c.26387T>C (p.Leu8796Pro)
c.26381T>C (p.Leu8794Pro)
c.26369T>C (p.Leu8790Pro)
c.26366T>C (p.Leu8789Pro)
c.26327T>C (p.Leu8776Pro)
c.26312T>C (p.Leu8771Pro)
c.26297T>C (p.Leu8766Pro)
c.26285T>C (p.Leu8762Pro)
c.26282T>C (p.Leu8761Pro)
c.26279T>C (p.Leu8760Pro)
c.*102T>C (n.*102T>C)
c.26435T>C (p.Leu8812Pro)
c.26423T>C (p.Leu8808Pro)
c.26273T>C (p.Leu8758Pro)
c.24713T>C (p.Leu8238Pro)
c.24206T>C (p.Leu8069Pro)
c.19673T>C (p.Leu6558Pro)
c.26411T>C (p.Leu8804Pro)
c.26360T>C (p.Leu8787Pro)
c.26324T>C (p.Leu8775Pro)
c.26171T>C (p.Leu8724Pro)
6g.152122539A>TCA366088813ESR1,SYNE1c.2825T>A (p.Leu942His)
c.26291T>A (p.Leu8764His)
c.26147T>A (p.Leu8716His)
c.1634T>A
c.2009T>A
c.1876T>A
c.2141T>A (n.2141T>A)
c.25076T>A (p.Leu8359His)
n.3039T>A
c.5067T>A (n.5067T>A)
n.9983T>A
c.4170T>A (n.4170T>A)
n.9875T>A
c.851-2727A>T (n.851-2727A>T)
n.2905T>A
n.6928T>A
c.2756T>A (p.Leu919His)
c.26438T>A (p.Leu8813His)
c.26426T>A (p.Leu8809His)
c.26417T>A (p.Leu8806His)
c.26396T>A (p.Leu8799His)
c.26387T>A (p.Leu8796His)
c.26381T>A (p.Leu8794His)
c.26369T>A (p.Leu8790His)
c.26366T>A (p.Leu8789His)
c.26327T>A (p.Leu8776His)
c.26312T>A (p.Leu8771His)
c.26297T>A (p.Leu8766His)
c.26285T>A (p.Leu8762His)
c.26282T>A (p.Leu8761His)
c.26279T>A (p.Leu8760His)
c.*102T>A (n.*102T>A)
c.26435T>A (p.Leu8812His)
c.26423T>A (p.Leu8808His)
c.26273T>A (p.Leu8758His)
c.24713T>A (p.Leu8238His)
c.24206T>A (p.Leu8069His)
c.19673T>A (p.Leu6558His)
c.26411T>A (p.Leu8804His)
c.26360T>A (p.Leu8787His)
c.26324T>A (p.Leu8775His)
c.26171T>A (p.Leu8724His)
6g.152122540G>ACA366088816ESR1,SYNE1c.2824C>T (p.Leu942Phe)
c.26290C>T (p.Leu8764Phe)
c.26146C>T (p.Leu8716Phe)
c.1633C>T
c.2008C>T
c.1875C>T
c.2140C>T (n.2140C>T)
c.25075C>T (p.Leu8359Phe)
n.3038C>T
c.5066C>T (n.5066C>T)
n.9982C>T
c.4169C>T (n.4169C>T)
n.9874C>T
c.851-2726G>A (n.851-2726G>A)
n.2904C>T
n.6927C>T
c.2755C>T (p.Leu919Phe)
c.26437C>T (p.Leu8813Phe)
c.26425C>T (p.Leu8809Phe)
c.26416C>T (p.Leu8806Phe)
c.26395C>T (p.Leu8799Phe)
c.26386C>T (p.Leu8796Phe)
c.26380C>T (p.Leu8794Phe)
c.26368C>T (p.Leu8790Phe)
c.26365C>T (p.Leu8789Phe)
c.26326C>T (p.Leu8776Phe)
c.26311C>T (p.Leu8771Phe)
c.26296C>T (p.Leu8766Phe)
c.26284C>T (p.Leu8762Phe)
c.26281C>T (p.Leu8761Phe)
c.26278C>T (p.Leu8760Phe)
c.*101C>T (n.*101C>T)
c.26434C>T (p.Leu8812Phe)
c.26422C>T (p.Leu8808Phe)
c.26272C>T (p.Leu8758Phe)
c.24712C>T (p.Leu8238Phe)
c.24205C>T (p.Leu8069Phe)
c.19672C>T (p.Leu6558Phe)
c.26410C>T (p.Leu8804Phe)
c.26359C>T (p.Leu8787Phe)
c.26323C>T (p.Leu8775Phe)
c.26170C>T (p.Leu8724Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.152122540G>CCA366088814ESR1,SYNE1c.2824C>G (p.Leu942Val)
c.26290C>G (p.Leu8764Val)
c.26146C>G (p.Leu8716Val)
c.1633C>G
c.2008C>G
c.1875C>G
c.2140C>G (n.2140C>G)
c.25075C>G (p.Leu8359Val)
n.3038C>G
c.5066C>G (n.5066C>G)
n.9982C>G
c.4169C>G (n.4169C>G)
n.9874C>G
c.851-2726G>C (n.851-2726G>C)
n.2904C>G
n.6927C>G
c.2755C>G (p.Leu919Val)
c.26437C>G (p.Leu8813Val)
c.26425C>G (p.Leu8809Val)
c.26416C>G (p.Leu8806Val)
c.26395C>G (p.Leu8799Val)
c.26386C>G (p.Leu8796Val)
c.26380C>G (p.Leu8794Val)
c.26368C>G (p.Leu8790Val)
c.26365C>G (p.Leu8789Val)
c.26326C>G (p.Leu8776Val)
c.26311C>G (p.Leu8771Val)
c.26296C>G (p.Leu8766Val)
c.26284C>G (p.Leu8762Val)
c.26281C>G (p.Leu8761Val)
c.26278C>G (p.Leu8760Val)
c.*101C>G (n.*101C>G)
c.26434C>G (p.Leu8812Val)
c.26422C>G (p.Leu8808Val)
c.26272C>G (p.Leu8758Val)
c.24712C>G (p.Leu8238Val)
c.24205C>G (p.Leu8069Val)
c.19672C>G (p.Leu6558Val)
c.26410C>G (p.Leu8804Val)
c.26359C>G (p.Leu8787Val)
c.26323C>G (p.Leu8775Val)
c.26170C>G (p.Leu8724Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122540G=CA1673188958ESR1,SYNE1c.2824C= (p.Leu942=)
c.26290C= (p.Leu8764=)
c.26146C= (p.Leu8716=)
c.1633C=
c.2008C=
c.1875C=
c.2140C= (n.2140C=)
c.25075C= (p.Leu8359=)
n.3038C=
c.5066C= (n.5066C=)
n.9982C=
c.4169C= (n.4169C=)
n.9874C=
c.851-2726G= (n.851-2726G=)
n.2904C=
n.6927C=
c.2755C= (p.Leu919=)
c.26437C= (p.Leu8813=)
c.26425C= (p.Leu8809=)
c.26416C= (p.Leu8806=)
c.26395C= (p.Leu8799=)
c.26386C= (p.Leu8796=)
c.26380C= (p.Leu8794=)
c.26368C= (p.Leu8790=)
c.26365C= (p.Leu8789=)
c.26326C= (p.Leu8776=)
c.26311C= (p.Leu8771=)
c.26296C= (p.Leu8766=)
c.26284C= (p.Leu8762=)
c.26281C= (p.Leu8761=)
c.26278C= (p.Leu8760=)
c.*101C= (n.*101C=)
c.26434C= (p.Leu8812=)
c.26422C= (p.Leu8808=)
c.26272C= (p.Leu8758=)
c.24712C= (p.Leu8238=)
c.24205C= (p.Leu8069=)
c.19672C= (p.Leu6558=)
c.26410C= (p.Leu8804=)
c.26359C= (p.Leu8787=)
c.26323C= (p.Leu8775=)
c.26170C= (p.Leu8724=)
6g.152122540G>TCA366088815ESR1,SYNE1c.2824C>A (p.Leu942Ile)
c.26290C>A (p.Leu8764Ile)
c.26146C>A (p.Leu8716Ile)
c.1633C>A
c.2008C>A
c.1875C>A
c.2140C>A (n.2140C>A)
c.25075C>A (p.Leu8359Ile)
n.3038C>A
c.5066C>A (n.5066C>A)
n.9982C>A
c.4169C>A (n.4169C>A)
n.9874C>A
c.851-2726G>T (n.851-2726G>T)
n.2904C>A
n.6927C>A
c.2755C>A (p.Leu919Ile)
c.26437C>A (p.Leu8813Ile)
c.26425C>A (p.Leu8809Ile)
c.26416C>A (p.Leu8806Ile)
c.26395C>A (p.Leu8799Ile)
c.26386C>A (p.Leu8796Ile)
c.26380C>A (p.Leu8794Ile)
c.26368C>A (p.Leu8790Ile)
c.26365C>A (p.Leu8789Ile)
c.26326C>A (p.Leu8776Ile)
c.26311C>A (p.Leu8771Ile)
c.26296C>A (p.Leu8766Ile)
c.26284C>A (p.Leu8762Ile)
c.26281C>A (p.Leu8761Ile)
c.26278C>A (p.Leu8760Ile)
c.*101C>A (n.*101C>A)
c.26434C>A (p.Leu8812Ile)
c.26422C>A (p.Leu8808Ile)
c.26272C>A (p.Leu8758Ile)
c.24712C>A (p.Leu8238Ile)
c.24205C>A (p.Leu8069Ile)
c.19672C>A (p.Leu6558Ile)
c.26410C>A (p.Leu8804Ile)
c.26359C>A (p.Leu8787Ile)
c.26323C>A (p.Leu8775Ile)
c.26170C>A (p.Leu8724Ile)
6g.152122541G>ACA452969664ESR1,SYNE1c.2823C>T (p.Cys941=)
c.26289C>T (p.Cys8763=)
c.26145C>T (p.Cys8715=)
c.1632C>T
c.2007C>T
c.1874C>T
c.2139C>T (n.2139C>T)
c.25074C>T (p.Cys8358=)
n.3037C>T
c.5065C>T (n.5065C>T)
n.9981C>T
c.4168C>T (n.4168C>T)
n.9873C>T
c.851-2725G>A (n.851-2725G>A)
n.2903C>T
n.6926C>T
c.2754C>T (p.Cys918=)
c.26436C>T (p.Cys8812=)
c.26424C>T (p.Cys8808=)
c.26415C>T (p.Cys8805=)
c.26394C>T (p.Cys8798=)
c.26385C>T (p.Cys8795=)
c.26379C>T (p.Cys8793=)
c.26367C>T (p.Cys8789=)
c.26364C>T (p.Cys8788=)
c.26325C>T (p.Cys8775=)
c.26310C>T (p.Cys8770=)
c.26295C>T (p.Cys8765=)
c.26283C>T (p.Cys8761=)
c.26280C>T (p.Cys8760=)
c.26277C>T (p.Cys8759=)
c.*100C>T (n.*100C>T)
c.26433C>T (p.Cys8811=)
c.26421C>T (p.Cys8807=)
c.26271C>T (p.Cys8757=)
c.24711C>T (p.Cys8237=)
c.24204C>T (p.Cys8068=)
c.19671C>T (p.Cys6557=)
c.26409C>T (p.Cys8803=)
c.26358C>T (p.Cys8786=)
c.26322C>T (p.Cys8774=)
c.26169C>T (p.Cys8723=)
 gnomAD v4
6g.152122541G>CCA366088817ESR1,SYNE1c.2823C>G (p.Cys941Trp)
c.26289C>G (p.Cys8763Trp)
c.26145C>G (p.Cys8715Trp)
c.1632C>G
c.2007C>G
c.1874C>G
c.2139C>G (n.2139C>G)
c.25074C>G (p.Cys8358Trp)
n.3037C>G
c.5065C>G (n.5065C>G)
n.9981C>G
c.4168C>G (n.4168C>G)
n.9873C>G
c.851-2725G>C (n.851-2725G>C)
n.2903C>G
n.6926C>G
c.2754C>G (p.Cys918Trp)
c.26436C>G (p.Cys8812Trp)
c.26424C>G (p.Cys8808Trp)
c.26415C>G (p.Cys8805Trp)
c.26394C>G (p.Cys8798Trp)
c.26385C>G (p.Cys8795Trp)
c.26379C>G (p.Cys8793Trp)
c.26367C>G (p.Cys8789Trp)
c.26364C>G (p.Cys8788Trp)
c.26325C>G (p.Cys8775Trp)
c.26310C>G (p.Cys8770Trp)
c.26295C>G (p.Cys8765Trp)
c.26283C>G (p.Cys8761Trp)
c.26280C>G (p.Cys8760Trp)
c.26277C>G (p.Cys8759Trp)
c.*100C>G (n.*100C>G)
c.26433C>G (p.Cys8811Trp)
c.26421C>G (p.Cys8807Trp)
c.26271C>G (p.Cys8757Trp)
c.24711C>G (p.Cys8237Trp)
c.24204C>G (p.Cys8068Trp)
c.19671C>G (p.Cys6557Trp)
c.26409C>G (p.Cys8803Trp)
c.26358C>G (p.Cys8786Trp)
c.26322C>G (p.Cys8774Trp)
c.26169C>G (p.Cys8723Trp)
6g.152122541G>TCA366088818ESR1,SYNE1c.2823C>A (p.Cys941Ter)
c.26289C>A (p.Cys8763Ter)
c.26145C>A (p.Cys8715Ter)
c.1632C>A
c.2007C>A
c.1874C>A
c.2139C>A (n.2139C>A)
c.25074C>A (p.Cys8358Ter)
n.3037C>A
c.5065C>A (n.5065C>A)
n.9981C>A
c.4168C>A (n.4168C>A)
n.9873C>A
c.851-2725G>T (n.851-2725G>T)
n.2903C>A
n.6926C>A
c.2754C>A (p.Cys918Ter)
c.26436C>A (p.Cys8812Ter)
c.26424C>A (p.Cys8808Ter)
c.26415C>A (p.Cys8805Ter)
c.26394C>A (p.Cys8798Ter)
c.26385C>A (p.Cys8795Ter)
c.26379C>A (p.Cys8793Ter)
c.26367C>A (p.Cys8789Ter)
c.26364C>A (p.Cys8788Ter)
c.26325C>A (p.Cys8775Ter)
c.26310C>A (p.Cys8770Ter)
c.26295C>A (p.Cys8765Ter)
c.26283C>A (p.Cys8761Ter)
c.26280C>A (p.Cys8760Ter)
c.26277C>A (p.Cys8759Ter)
c.*100C>A (n.*100C>A)
c.26433C>A (p.Cys8811Ter)
c.26421C>A (p.Cys8807Ter)
c.26271C>A (p.Cys8757Ter)
c.24711C>A (p.Cys8237Ter)
c.24204C>A (p.Cys8068Ter)
c.19671C>A (p.Cys6557Ter)
c.26409C>A (p.Cys8803Ter)
c.26358C>A (p.Cys8786Ter)
c.26322C>A (p.Cys8774Ter)
c.26169C>A (p.Cys8723Ter)

Number of alleles fetched