Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152122490A= | CA1673188852 | ESR1,SYNE1 | c.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=) | |
6 | g.152122490A>C | CA366088588 | ESR1,SYNE1 | c.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) | |
6 | g.152122490A>G | CA452969549 | ESR1,SYNE1 | c.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 |
6 | g.152122490A>T | CA366088590 | ESR1,SYNE1 | c.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) | |
6 | g.152122491A>C | CA366088592 | ESR1,SYNE1 | c.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) | |
6 | g.152122491A>G | CA366088594 | ESR1,SYNE1 | c.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) | |
6 | g.152122491A>T | CA366088595 | ESR1,SYNE1 | c.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) | |
6 | g.152122492A>C | CA366088608 | ESR1,SYNE1 | c.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) | |
6 | g.152122492A>G | CA366088606 | ESR1,SYNE1 | c.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) | |
6 | g.152122492A>T | CA366088600 | ESR1,SYNE1 | c.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) | |
6 | g.152122493G>A | CA452969554 | ESR1,SYNE1 | c.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 |
6 | g.152122493G>C | CA366088610 | ESR1,SYNE1 | c.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) | |
6 | g.152122493G= | CA1673188858 | ESR1,SYNE1 | c.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=) | |
6 | g.152122493G>T | CA4052584 | ESR1,SYNE1 | c.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 |
6 | g.152122494T>A | CA366088615 | ESR1,SYNE1 | c.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) | |
6 | g.152122494T>C | CA366088616 | ESR1,SYNE1 | c.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 |
6 | g.152122494T>G | CA366088617 | ESR1,SYNE1 | c.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) | |
6 | g.152122494T= | CA1673188863 | ESR1,SYNE1 | c.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=) | |
6 | g.152122495T>A | CA366088619 | ESR1,SYNE1 | c.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) | |
6 | g.152122495T>C | CA4052585 | ESR1,SYNE1 | c.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 |
6 | g.152122495T>G | CA366088622 | ESR1,SYNE1 | c.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) | |
6 | g.152122495T= | CA1673188871 | ESR1,SYNE1 | c.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=) | |
6 | g.152122496G>A | CA452969561 | ESR1,SYNE1 | c.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=) | |
6 | g.152122496G>C | CA366088624 | ESR1,SYNE1 | c.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) | |
6 | g.152122496G= | CA1673188874 | ESR1,SYNE1 | c.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=) | |
6 | g.152122496G>T | CA366088626 | ESR1,SYNE1 | c.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 |
6 | g.152122497T>A | CA366088628 | ESR1,SYNE1 | c.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) | |
6 | g.152122497T>C | CA366088629 | ESR1,SYNE1 | c.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) | |
6 | g.152122497T>G | CA366088632 | ESR1,SYNE1 | c.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 |
6 | g.152122497T= | CA1673188882 | ESR1,SYNE1 | c.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=) | |
6 | g.152122498T>A | CA366088634 | ESR1,SYNE1 | c.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) | |
6 | g.152122498T>C | CA366088638 | ESR1,SYNE1 | c.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 |
6 | g.152122498T>G | CA366088636 | ESR1,SYNE1 | c.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) | |
6 | g.152122498T= | CA1673188883 | ESR1,SYNE1 | c.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=) | |
6 | g.152122499G>A | CA452969570 | ESR1,SYNE1 | c.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=) | |
6 | g.152122499G>C | CA452969571 | ESR1,SYNE1 | c.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=) | |
6 | g.152122499G>T | CA452969572 | ESR1,SYNE1 | c.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=) | |
6 | g.152122500G>A | CA366088640 | ESR1,SYNE1 | c.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) | |
6 | g.152122500G>C | CA4052586 | ESR1,SYNE1 | c.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 |
6 | g.152122500G= | CA1673188887 | ESR1,SYNE1 | c.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=) | |
6 | g.152122500G>T | CA366088643 | ESR1,SYNE1 | c.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) | |
6 | g.152122501A>C | CA366088647 | ESR1,SYNE1 | c.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 |
6 | g.152122501A>G | CA366088651 | ESR1,SYNE1 | c.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) | |
6 | g.152122501A>T | CA366088648 | ESR1,SYNE1 | c.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) | |
6 | g.152122502G>A | CA452969583 | ESR1,SYNE1 | c.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 |
6 | g.152122502G>C | CA452969584 | ESR1,SYNE1 | c.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 |
6 | g.152122502G= | CA1673188890 | ESR1,SYNE1 | c.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=) | |
6 | g.152122502G>T | CA452969585 | ESR1,SYNE1 | c.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=) | |
6 | g.152122503A>C | CA366088653 | ESR1,SYNE1 | c.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) | |
6 | g.152122503A>G | CA366088656 | ESR1,SYNE1 | c.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) | |
6 | g.152122503A>T | CA366088657 | ESR1,SYNE1 | c.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) | |
6 | g.152122504G>A | CA366088658 | ESR1,SYNE1 | c.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) | |
6 | g.152122504G>C | CA366088659 | ESR1,SYNE1 | c.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) | |
6 | g.152122504G>T | CA366088660 | ESR1,SYNE1 | c.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) | |
6 | g.152122505G>A | CA452969591 | ESR1,SYNE1 | c.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=) | |
6 | g.152122505G>C | CA452969593 | ESR1,SYNE1 | c.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 |
6 | g.152122505G= | CA1673188896 | ESR1,SYNE1 | c.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=) | |
6 | g.152122505G>T | CA452969594 | ESR1,SYNE1 | c.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=) | |
6 | g.152122506G>A | CA366088662 | ESR1,SYNE1 | c.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 |
6 | g.152122506G>C | CA366088664 | ESR1,SYNE1 | c.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) | |
6 | g.152122506G>T | CA366088666 | ESR1,SYNE1 | c.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) | |
6 | g.152122507C>A | CA366088668 | ESR1,SYNE1 | c.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) | |
6 | g.152122507C= | CA1673188899 | ESR1,SYNE1 | c.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=) | |
6 | g.152122507C>G | CA366088670 | ESR1,SYNE1 | c.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) | |
6 | g.152122507C>T | CA366088672 | ESR1,SYNE1 | c.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 |
6 | g.152122508A>C | CA366088676 | ESR1,SYNE1 | c.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) | |
6 | g.152122508A>G | CA452969599 | ESR1,SYNE1 | c.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 |
6 | g.152122508A>T | CA366088674 | ESR1,SYNE1 | c.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) | |
6 | g.152122509C>A | CA366088678 | ESR1,SYNE1 | c.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 |
6 | g.152122509C= | CA1673188903 | ESR1,SYNE1 | c.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=) | |
6 | g.152122509C>G | CA366088679 | ESR1,SYNE1 | c.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) | |
6 | g.152122509C>T | CA366088681 | ESR1,SYNE1 | c.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 |
6 | g.152122510A>C | CA366088683 | ESR1,SYNE1 | c.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) | |
6 | g.152122510A>G | CA366088684 | ESR1,SYNE1 | c.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) | |
6 | g.152122510A>T | CA366088686 | ESR1,SYNE1 | c.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) | |
6 | g.152122511G>A | CA452969607 | ESR1,SYNE1 | c.2853C>T (p.Ser951=) c.26319C>T (p.Ser8773=) c.26175C>T (p.Ser8725=) c.1662C>T c.2037C>T c.1904C>T c.2169C>T (n.2169C>T) c.25104C>T (p.Ser8368=) n.3067C>T c.5095C>T (n.5095C>T) n.10011C>T c.4198C>T (n.4198C>T) n.9903C>T c.851-2755G>A (n.851-2755G>A) n.2933C>T n.6956C>T c.2784C>T (p.Ser928=) c.26466C>T (p.Ser8822=) c.26454C>T (p.Ser8818=) c.26445C>T (p.Ser8815=) c.26424C>T (p.Ser8808=) c.26415C>T (p.Ser8805=) c.26409C>T (p.Ser8803=) c.26397C>T (p.Ser8799=) c.26394C>T (p.Ser8798=) c.26355C>T (p.Ser8785=) c.26340C>T (p.Ser8780=) c.26325C>T (p.Ser8775=) c.26313C>T (p.Ser8771=) c.26310C>T (p.Ser8770=) c.26307C>T (p.Ser8769=) c.*130C>T (n.*130C>T) c.26463C>T (p.Ser8821=) c.26451C>T (p.Ser8817=) c.26301C>T (p.Ser8767=) c.24741C>T (p.Ser8247=) c.24234C>T (p.Ser8078=) c.19701C>T (p.Ser6567=) c.26439C>T (p.Ser8813=) c.26388C>T (p.Ser8796=) c.26352C>T (p.Ser8784=) c.26199C>T (p.Ser8733=) | |
6 | g.152122511G>C | CA366088688 | ESR1,SYNE1 | c.2853C>G (p.Ser951Arg) c.26319C>G (p.Ser8773Arg) c.26175C>G (p.Ser8725Arg) c.1662C>G c.2037C>G c.1904C>G c.2169C>G (n.2169C>G) c.25104C>G (p.Ser8368Arg) n.3067C>G c.5095C>G (n.5095C>G) n.10011C>G c.4198C>G (n.4198C>G) n.9903C>G c.851-2755G>C (n.851-2755G>C) n.2933C>G n.6956C>G c.2784C>G (p.Ser928Arg) c.26466C>G (p.Ser8822Arg) c.26454C>G (p.Ser8818Arg) c.26445C>G (p.Ser8815Arg) c.26424C>G (p.Ser8808Arg) c.26415C>G (p.Ser8805Arg) c.26409C>G (p.Ser8803Arg) c.26397C>G (p.Ser8799Arg) c.26394C>G (p.Ser8798Arg) c.26355C>G (p.Ser8785Arg) c.26340C>G (p.Ser8780Arg) c.26325C>G (p.Ser8775Arg) c.26313C>G (p.Ser8771Arg) c.26310C>G (p.Ser8770Arg) c.26307C>G (p.Ser8769Arg) c.*130C>G (n.*130C>G) c.26463C>G (p.Ser8821Arg) c.26451C>G (p.Ser8817Arg) c.26301C>G (p.Ser8767Arg) c.24741C>G (p.Ser8247Arg) c.24234C>G (p.Ser8078Arg) c.19701C>G (p.Ser6567Arg) c.26439C>G (p.Ser8813Arg) c.26388C>G (p.Ser8796Arg) c.26352C>G (p.Ser8784Arg) c.26199C>G (p.Ser8733Arg) | |
6 | g.152122511G>T | CA366088690 | ESR1,SYNE1 | c.2853C>A (p.Ser951Arg) c.26319C>A (p.Ser8773Arg) c.26175C>A (p.Ser8725Arg) c.1662C>A c.2037C>A c.1904C>A c.2169C>A (n.2169C>A) c.25104C>A (p.Ser8368Arg) n.3067C>A c.5095C>A (n.5095C>A) n.10011C>A c.4198C>A (n.4198C>A) n.9903C>A c.851-2755G>T (n.851-2755G>T) n.2933C>A n.6956C>A c.2784C>A (p.Ser928Arg) c.26466C>A (p.Ser8822Arg) c.26454C>A (p.Ser8818Arg) c.26445C>A (p.Ser8815Arg) c.26424C>A (p.Ser8808Arg) c.26415C>A (p.Ser8805Arg) c.26409C>A (p.Ser8803Arg) c.26397C>A (p.Ser8799Arg) c.26394C>A (p.Ser8798Arg) c.26355C>A (p.Ser8785Arg) c.26340C>A (p.Ser8780Arg) c.26325C>A (p.Ser8775Arg) c.26313C>A (p.Ser8771Arg) c.26310C>A (p.Ser8770Arg) c.26307C>A (p.Ser8769Arg) c.*130C>A (n.*130C>A) c.26463C>A (p.Ser8821Arg) c.26451C>A (p.Ser8817Arg) c.26301C>A (p.Ser8767Arg) c.24741C>A (p.Ser8247Arg) c.24234C>A (p.Ser8078Arg) c.19701C>A (p.Ser6567Arg) c.26439C>A (p.Ser8813Arg) c.26388C>A (p.Ser8796Arg) c.26352C>A (p.Ser8784Arg) c.26199C>A (p.Ser8733Arg) | |
6 | g.152122512C>A | CA366088691 | ESR1,SYNE1 | c.2852G>T (p.Ser951Ile) c.26318G>T (p.Ser8773Ile) c.26174G>T (p.Ser8725Ile) c.1661G>T c.2036G>T c.1903G>T c.2168G>T (n.2168G>T) c.25103G>T (p.Ser8368Ile) n.3066G>T c.5094G>T (n.5094G>T) n.10010G>T c.4197G>T (n.4197G>T) n.9902G>T c.851-2754C>A (n.851-2754C>A) n.2932G>T n.6955G>T c.2783G>T (p.Ser928Ile) c.26465G>T (p.Ser8822Ile) c.26453G>T (p.Ser8818Ile) c.26444G>T (p.Ser8815Ile) c.26423G>T (p.Ser8808Ile) c.26414G>T (p.Ser8805Ile) c.26408G>T (p.Ser8803Ile) c.26396G>T (p.Ser8799Ile) c.26393G>T (p.Ser8798Ile) c.26354G>T (p.Ser8785Ile) c.26339G>T (p.Ser8780Ile) c.26324G>T (p.Ser8775Ile) c.26312G>T (p.Ser8771Ile) c.26309G>T (p.Ser8770Ile) c.26306G>T (p.Ser8769Ile) c.*129G>T (n.*129G>T) c.26462G>T (p.Ser8821Ile) c.26450G>T (p.Ser8817Ile) c.26300G>T (p.Ser8767Ile) c.24740G>T (p.Ser8247Ile) c.24233G>T (p.Ser8078Ile) c.19700G>T (p.Ser6567Ile) c.26438G>T (p.Ser8813Ile) c.26387G>T (p.Ser8796Ile) c.26351G>T (p.Ser8784Ile) c.26198G>T (p.Ser8733Ile) | |
6 | g.152122512C>G | CA366088693 | ESR1,SYNE1 | c.2852G>C (p.Ser951Thr) c.26318G>C (p.Ser8773Thr) c.26174G>C (p.Ser8725Thr) c.1661G>C c.2036G>C c.1903G>C c.2168G>C (n.2168G>C) c.25103G>C (p.Ser8368Thr) n.3066G>C c.5094G>C (n.5094G>C) n.10010G>C c.4197G>C (n.4197G>C) n.9902G>C c.851-2754C>G (n.851-2754C>G) n.2932G>C n.6955G>C c.2783G>C (p.Ser928Thr) c.26465G>C (p.Ser8822Thr) c.26453G>C (p.Ser8818Thr) c.26444G>C (p.Ser8815Thr) c.26423G>C (p.Ser8808Thr) c.26414G>C (p.Ser8805Thr) c.26408G>C (p.Ser8803Thr) c.26396G>C (p.Ser8799Thr) c.26393G>C (p.Ser8798Thr) c.26354G>C (p.Ser8785Thr) c.26339G>C (p.Ser8780Thr) c.26324G>C (p.Ser8775Thr) c.26312G>C (p.Ser8771Thr) c.26309G>C (p.Ser8770Thr) c.26306G>C (p.Ser8769Thr) c.*129G>C (n.*129G>C) c.26462G>C (p.Ser8821Thr) c.26450G>C (p.Ser8817Thr) c.26300G>C (p.Ser8767Thr) c.24740G>C (p.Ser8247Thr) c.24233G>C (p.Ser8078Thr) c.19700G>C (p.Ser6567Thr) c.26438G>C (p.Ser8813Thr) c.26387G>C (p.Ser8796Thr) c.26351G>C (p.Ser8784Thr) c.26198G>C (p.Ser8733Thr) | gnomAD v4 |
6 | g.152122512C>T | CA366088694 | ESR1,SYNE1 | c.2852G>A (p.Ser951Asn) c.26318G>A (p.Ser8773Asn) c.26174G>A (p.Ser8725Asn) c.1661G>A c.2036G>A c.1903G>A c.2168G>A (n.2168G>A) c.25103G>A (p.Ser8368Asn) n.3066G>A c.5094G>A (n.5094G>A) n.10010G>A c.4197G>A (n.4197G>A) n.9902G>A c.851-2754C>T (n.851-2754C>T) n.2932G>A n.6955G>A c.2783G>A (p.Ser928Asn) c.26465G>A (p.Ser8822Asn) c.26453G>A (p.Ser8818Asn) c.26444G>A (p.Ser8815Asn) c.26423G>A (p.Ser8808Asn) c.26414G>A (p.Ser8805Asn) c.26408G>A (p.Ser8803Asn) c.26396G>A (p.Ser8799Asn) c.26393G>A (p.Ser8798Asn) c.26354G>A (p.Ser8785Asn) c.26339G>A (p.Ser8780Asn) c.26324G>A (p.Ser8775Asn) c.26312G>A (p.Ser8771Asn) c.26309G>A (p.Ser8770Asn) c.26306G>A (p.Ser8769Asn) c.*129G>A (n.*129G>A) c.26462G>A (p.Ser8821Asn) c.26450G>A (p.Ser8817Asn) c.26300G>A (p.Ser8767Asn) c.24740G>A (p.Ser8247Asn) c.24233G>A (p.Ser8078Asn) c.19700G>A (p.Ser6567Asn) c.26438G>A (p.Ser8813Asn) c.26387G>A (p.Ser8796Asn) c.26351G>A (p.Ser8784Asn) c.26198G>A (p.Ser8733Asn) | |
6 | g.152122513T>A | CA366088701 | ESR1,SYNE1 | c.2851A>T (p.Ser951Cys) c.26317A>T (p.Ser8773Cys) c.26173A>T (p.Ser8725Cys) c.1660A>T c.2035A>T c.1902A>T c.2167A>T (n.2167A>T) c.25102A>T (p.Ser8368Cys) n.3065A>T c.5093A>T (n.5093A>T) n.10009A>T c.4196A>T (n.4196A>T) n.9901A>T c.851-2753T>A (n.851-2753T>A) n.2931A>T n.6954A>T c.2782A>T (p.Ser928Cys) c.26464A>T (p.Ser8822Cys) c.26452A>T (p.Ser8818Cys) c.26443A>T (p.Ser8815Cys) c.26422A>T (p.Ser8808Cys) c.26413A>T (p.Ser8805Cys) c.26407A>T (p.Ser8803Cys) c.26395A>T (p.Ser8799Cys) c.26392A>T (p.Ser8798Cys) c.26353A>T (p.Ser8785Cys) c.26338A>T (p.Ser8780Cys) c.26323A>T (p.Ser8775Cys) c.26311A>T (p.Ser8771Cys) c.26308A>T (p.Ser8770Cys) c.26305A>T (p.Ser8769Cys) c.*128A>T (n.*128A>T) c.26461A>T (p.Ser8821Cys) c.26449A>T (p.Ser8817Cys) c.26299A>T (p.Ser8767Cys) c.24739A>T (p.Ser8247Cys) c.24232A>T (p.Ser8078Cys) c.19699A>T (p.Ser6567Cys) c.26437A>T (p.Ser8813Cys) c.26386A>T (p.Ser8796Cys) c.26350A>T (p.Ser8784Cys) c.26197A>T (p.Ser8733Cys) | |
6 | g.152122513T>C | CA366088699 | ESR1,SYNE1 | c.2851A>G (p.Ser951Gly) c.26317A>G (p.Ser8773Gly) c.26173A>G (p.Ser8725Gly) c.1660A>G c.2035A>G c.1902A>G c.2167A>G (n.2167A>G) c.25102A>G (p.Ser8368Gly) n.3065A>G c.5093A>G (n.5093A>G) n.10009A>G c.4196A>G (n.4196A>G) n.9901A>G c.851-2753T>C (n.851-2753T>C) n.2931A>G n.6954A>G c.2782A>G (p.Ser928Gly) c.26464A>G (p.Ser8822Gly) c.26452A>G (p.Ser8818Gly) c.26443A>G (p.Ser8815Gly) c.26422A>G (p.Ser8808Gly) c.26413A>G (p.Ser8805Gly) c.26407A>G (p.Ser8803Gly) c.26395A>G (p.Ser8799Gly) c.26392A>G (p.Ser8798Gly) c.26353A>G (p.Ser8785Gly) c.26338A>G (p.Ser8780Gly) c.26323A>G (p.Ser8775Gly) c.26311A>G (p.Ser8771Gly) c.26308A>G (p.Ser8770Gly) c.26305A>G (p.Ser8769Gly) c.*128A>G (n.*128A>G) c.26461A>G (p.Ser8821Gly) c.26449A>G (p.Ser8817Gly) c.26299A>G (p.Ser8767Gly) c.24739A>G (p.Ser8247Gly) c.24232A>G (p.Ser8078Gly) c.19699A>G (p.Ser6567Gly) c.26437A>G (p.Ser8813Gly) c.26386A>G (p.Ser8796Gly) c.26350A>G (p.Ser8784Gly) c.26197A>G (p.Ser8733Gly) | gnomAD v4 |
6 | g.152122513T>G | CA366088697 | ESR1,SYNE1 | c.2851A>C (p.Ser951Arg) c.26317A>C (p.Ser8773Arg) c.26173A>C (p.Ser8725Arg) c.1660A>C c.2035A>C c.1902A>C c.2167A>C (n.2167A>C) c.25102A>C (p.Ser8368Arg) n.3065A>C c.5093A>C (n.5093A>C) n.10009A>C c.4196A>C (n.4196A>C) n.9901A>C c.851-2753T>G (n.851-2753T>G) n.2931A>C n.6954A>C c.2782A>C (p.Ser928Arg) c.26464A>C (p.Ser8822Arg) c.26452A>C (p.Ser8818Arg) c.26443A>C (p.Ser8815Arg) c.26422A>C (p.Ser8808Arg) c.26413A>C (p.Ser8805Arg) c.26407A>C (p.Ser8803Arg) c.26395A>C (p.Ser8799Arg) c.26392A>C (p.Ser8798Arg) c.26353A>C (p.Ser8785Arg) c.26338A>C (p.Ser8780Arg) c.26323A>C (p.Ser8775Arg) c.26311A>C (p.Ser8771Arg) c.26308A>C (p.Ser8770Arg) c.26305A>C (p.Ser8769Arg) c.*128A>C (n.*128A>C) c.26461A>C (p.Ser8821Arg) c.26449A>C (p.Ser8817Arg) c.26299A>C (p.Ser8767Arg) c.24739A>C (p.Ser8247Arg) c.24232A>C (p.Ser8078Arg) c.19699A>C (p.Ser6567Arg) c.26437A>C (p.Ser8813Arg) c.26386A>C (p.Ser8796Arg) c.26350A>C (p.Ser8784Arg) c.26197A>C (p.Ser8733Arg) | |
6 | g.152122514G>A | CA4052587 | ESR1,SYNE1 | c.2850C>T (p.Tyr950=) c.26316C>T (p.Tyr8772=) c.26172C>T (p.Tyr8724=) c.1659C>T c.2034C>T c.1901C>T c.2166C>T (n.2166C>T) c.25101C>T (p.Tyr8367=) n.3064C>T c.5092C>T (n.5092C>T) n.10008C>T c.4195C>T (n.4195C>T) n.9900C>T c.851-2752G>A (n.851-2752G>A) n.2930C>T n.6953C>T c.2781C>T (p.Tyr927=) c.26463C>T (p.Tyr8821=) c.26451C>T (p.Tyr8817=) c.26442C>T (p.Tyr8814=) c.26421C>T (p.Tyr8807=) c.26412C>T (p.Tyr8804=) c.26406C>T (p.Tyr8802=) c.26394C>T (p.Tyr8798=) c.26391C>T (p.Tyr8797=) c.26352C>T (p.Tyr8784=) c.26337C>T (p.Tyr8779=) c.26322C>T (p.Tyr8774=) c.26310C>T (p.Tyr8770=) c.26307C>T (p.Tyr8769=) c.26304C>T (p.Tyr8768=) c.*127C>T (n.*127C>T) c.26460C>T (p.Tyr8820=) c.26448C>T (p.Tyr8816=) c.26298C>T (p.Tyr8766=) c.24738C>T (p.Tyr8246=) c.24231C>T (p.Tyr8077=) c.19698C>T (p.Tyr6566=) c.26436C>T (p.Tyr8812=) c.26385C>T (p.Tyr8795=) c.26349C>T (p.Tyr8783=) c.26196C>T (p.Tyr8732=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122514G>C | CA366088703 | ESR1,SYNE1 | c.2850C>G (p.Tyr950Ter) c.26316C>G (p.Tyr8772Ter) c.26172C>G (p.Tyr8724Ter) c.1659C>G c.2034C>G c.1901C>G c.2166C>G (n.2166C>G) c.25101C>G (p.Tyr8367Ter) n.3064C>G c.5092C>G (n.5092C>G) n.10008C>G c.4195C>G (n.4195C>G) n.9900C>G c.851-2752G>C (n.851-2752G>C) n.2930C>G n.6953C>G c.2781C>G (p.Tyr927Ter) c.26463C>G (p.Tyr8821Ter) c.26451C>G (p.Tyr8817Ter) c.26442C>G (p.Tyr8814Ter) c.26421C>G (p.Tyr8807Ter) c.26412C>G (p.Tyr8804Ter) c.26406C>G (p.Tyr8802Ter) c.26394C>G (p.Tyr8798Ter) c.26391C>G (p.Tyr8797Ter) c.26352C>G (p.Tyr8784Ter) c.26337C>G (p.Tyr8779Ter) c.26322C>G (p.Tyr8774Ter) c.26310C>G (p.Tyr8770Ter) c.26307C>G (p.Tyr8769Ter) c.26304C>G (p.Tyr8768Ter) c.*127C>G (n.*127C>G) c.26460C>G (p.Tyr8820Ter) c.26448C>G (p.Tyr8816Ter) c.26298C>G (p.Tyr8766Ter) c.24738C>G (p.Tyr8246Ter) c.24231C>G (p.Tyr8077Ter) c.19698C>G (p.Tyr6566Ter) c.26436C>G (p.Tyr8812Ter) c.26385C>G (p.Tyr8795Ter) c.26349C>G (p.Tyr8783Ter) c.26196C>G (p.Tyr8732Ter) | |
6 | g.152122514G= | CA1673188905 | ESR1,SYNE1 | c.2850C= (p.Tyr950=) c.26316C= (p.Tyr8772=) c.26172C= (p.Tyr8724=) c.1659C= c.2034C= c.1901C= c.2166C= (n.2166C=) c.25101C= (p.Tyr8367=) n.3064C= c.5092C= (n.5092C=) n.10008C= c.4195C= (n.4195C=) n.9900C= c.851-2752G= (n.851-2752G=) n.2930C= n.6953C= c.2781C= (p.Tyr927=) c.26463C= (p.Tyr8821=) c.26451C= (p.Tyr8817=) c.26442C= (p.Tyr8814=) c.26421C= (p.Tyr8807=) c.26412C= (p.Tyr8804=) c.26406C= (p.Tyr8802=) c.26394C= (p.Tyr8798=) c.26391C= (p.Tyr8797=) c.26352C= (p.Tyr8784=) c.26337C= (p.Tyr8779=) c.26322C= (p.Tyr8774=) c.26310C= (p.Tyr8770=) c.26307C= (p.Tyr8769=) c.26304C= (p.Tyr8768=) c.*127C= (n.*127C=) c.26460C= (p.Tyr8820=) c.26448C= (p.Tyr8816=) c.26298C= (p.Tyr8766=) c.24738C= (p.Tyr8246=) c.24231C= (p.Tyr8077=) c.19698C= (p.Tyr6566=) c.26436C= (p.Tyr8812=) c.26385C= (p.Tyr8795=) c.26349C= (p.Tyr8783=) c.26196C= (p.Tyr8732=) | |
6 | g.152122514G>T | CA366088704 | ESR1,SYNE1 | c.2850C>A (p.Tyr950Ter) c.26316C>A (p.Tyr8772Ter) c.26172C>A (p.Tyr8724Ter) c.1659C>A c.2034C>A c.1901C>A c.2166C>A (n.2166C>A) c.25101C>A (p.Tyr8367Ter) n.3064C>A c.5092C>A (n.5092C>A) n.10008C>A c.4195C>A (n.4195C>A) n.9900C>A c.851-2752G>T (n.851-2752G>T) n.2930C>A n.6953C>A c.2781C>A (p.Tyr927Ter) c.26463C>A (p.Tyr8821Ter) c.26451C>A (p.Tyr8817Ter) c.26442C>A (p.Tyr8814Ter) c.26421C>A (p.Tyr8807Ter) c.26412C>A (p.Tyr8804Ter) c.26406C>A (p.Tyr8802Ter) c.26394C>A (p.Tyr8798Ter) c.26391C>A (p.Tyr8797Ter) c.26352C>A (p.Tyr8784Ter) c.26337C>A (p.Tyr8779Ter) c.26322C>A (p.Tyr8774Ter) c.26310C>A (p.Tyr8770Ter) c.26307C>A (p.Tyr8769Ter) c.26304C>A (p.Tyr8768Ter) c.*127C>A (n.*127C>A) c.26460C>A (p.Tyr8820Ter) c.26448C>A (p.Tyr8816Ter) c.26298C>A (p.Tyr8766Ter) c.24738C>A (p.Tyr8246Ter) c.24231C>A (p.Tyr8077Ter) c.19698C>A (p.Tyr6566Ter) c.26436C>A (p.Tyr8812Ter) c.26385C>A (p.Tyr8795Ter) c.26349C>A (p.Tyr8783Ter) c.26196C>A (p.Tyr8732Ter) | |
6 | g.152122515T>A | CA366088706 | ESR1,SYNE1 | c.2849A>T (p.Tyr950Phe) c.26315A>T (p.Tyr8772Phe) c.26171A>T (p.Tyr8724Phe) c.1658A>T c.2033A>T c.1900A>T c.2165A>T (n.2165A>T) c.25100A>T (p.Tyr8367Phe) n.3063A>T c.5091A>T (n.5091A>T) n.10007A>T c.4194A>T (n.4194A>T) n.9899A>T c.851-2751T>A (n.851-2751T>A) n.2929A>T n.6952A>T c.2780A>T (p.Tyr927Phe) c.26462A>T (p.Tyr8821Phe) c.26450A>T (p.Tyr8817Phe) c.26441A>T (p.Tyr8814Phe) c.26420A>T (p.Tyr8807Phe) c.26411A>T (p.Tyr8804Phe) c.26405A>T (p.Tyr8802Phe) c.26393A>T (p.Tyr8798Phe) c.26390A>T (p.Tyr8797Phe) c.26351A>T (p.Tyr8784Phe) c.26336A>T (p.Tyr8779Phe) c.26321A>T (p.Tyr8774Phe) c.26309A>T (p.Tyr8770Phe) c.26306A>T (p.Tyr8769Phe) c.26303A>T (p.Tyr8768Phe) c.*126A>T (n.*126A>T) c.26459A>T (p.Tyr8820Phe) c.26447A>T (p.Tyr8816Phe) c.26297A>T (p.Tyr8766Phe) c.24737A>T (p.Tyr8246Phe) c.24230A>T (p.Tyr8077Phe) c.19697A>T (p.Tyr6566Phe) c.26435A>T (p.Tyr8812Phe) c.26384A>T (p.Tyr8795Phe) c.26348A>T (p.Tyr8783Phe) c.26195A>T (p.Tyr8732Phe) | |
6 | g.152122515T>C | CA366088708 | ESR1,SYNE1 | c.2849A>G (p.Tyr950Cys) c.26315A>G (p.Tyr8772Cys) c.26171A>G (p.Tyr8724Cys) c.1658A>G c.2033A>G c.1900A>G c.2165A>G (n.2165A>G) c.25100A>G (p.Tyr8367Cys) n.3063A>G c.5091A>G (n.5091A>G) n.10007A>G c.4194A>G (n.4194A>G) n.9899A>G c.851-2751T>C (n.851-2751T>C) n.2929A>G n.6952A>G c.2780A>G (p.Tyr927Cys) c.26462A>G (p.Tyr8821Cys) c.26450A>G (p.Tyr8817Cys) c.26441A>G (p.Tyr8814Cys) c.26420A>G (p.Tyr8807Cys) c.26411A>G (p.Tyr8804Cys) c.26405A>G (p.Tyr8802Cys) c.26393A>G (p.Tyr8798Cys) c.26390A>G (p.Tyr8797Cys) c.26351A>G (p.Tyr8784Cys) c.26336A>G (p.Tyr8779Cys) c.26321A>G (p.Tyr8774Cys) c.26309A>G (p.Tyr8770Cys) c.26306A>G (p.Tyr8769Cys) c.26303A>G (p.Tyr8768Cys) c.*126A>G (n.*126A>G) c.26459A>G (p.Tyr8820Cys) c.26447A>G (p.Tyr8816Cys) c.26297A>G (p.Tyr8766Cys) c.24737A>G (p.Tyr8246Cys) c.24230A>G (p.Tyr8077Cys) c.19697A>G (p.Tyr6566Cys) c.26435A>G (p.Tyr8812Cys) c.26384A>G (p.Tyr8795Cys) c.26348A>G (p.Tyr8783Cys) c.26195A>G (p.Tyr8732Cys) | |
6 | g.152122515T>G | CA366088709 | ESR1,SYNE1 | c.2849A>C (p.Tyr950Ser) c.26315A>C (p.Tyr8772Ser) c.26171A>C (p.Tyr8724Ser) c.1658A>C c.2033A>C c.1900A>C c.2165A>C (n.2165A>C) c.25100A>C (p.Tyr8367Ser) n.3063A>C c.5091A>C (n.5091A>C) n.10007A>C c.4194A>C (n.4194A>C) n.9899A>C c.851-2751T>G (n.851-2751T>G) n.2929A>C n.6952A>C c.2780A>C (p.Tyr927Ser) c.26462A>C (p.Tyr8821Ser) c.26450A>C (p.Tyr8817Ser) c.26441A>C (p.Tyr8814Ser) c.26420A>C (p.Tyr8807Ser) c.26411A>C (p.Tyr8804Ser) c.26405A>C (p.Tyr8802Ser) c.26393A>C (p.Tyr8798Ser) c.26390A>C (p.Tyr8797Ser) c.26351A>C (p.Tyr8784Ser) c.26336A>C (p.Tyr8779Ser) c.26321A>C (p.Tyr8774Ser) c.26309A>C (p.Tyr8770Ser) c.26306A>C (p.Tyr8769Ser) c.26303A>C (p.Tyr8768Ser) c.*126A>C (n.*126A>C) c.26459A>C (p.Tyr8820Ser) c.26447A>C (p.Tyr8816Ser) c.26297A>C (p.Tyr8766Ser) c.24737A>C (p.Tyr8246Ser) c.24230A>C (p.Tyr8077Ser) c.19697A>C (p.Tyr6566Ser) c.26435A>C (p.Tyr8812Ser) c.26384A>C (p.Tyr8795Ser) c.26348A>C (p.Tyr8783Ser) c.26195A>C (p.Tyr8732Ser) | |
6 | g.152122516A>C | CA366088712 | ESR1,SYNE1 | c.2848T>G (p.Tyr950Asp) c.26314T>G (p.Tyr8772Asp) c.26170T>G (p.Tyr8724Asp) c.1657T>G c.2032T>G c.1899T>G c.2164T>G (n.2164T>G) c.25099T>G (p.Tyr8367Asp) n.3062T>G c.5090T>G (n.5090T>G) n.10006T>G c.4193T>G (n.4193T>G) n.9898T>G c.851-2750A>C (n.851-2750A>C) n.2928T>G n.6951T>G c.2779T>G (p.Tyr927Asp) c.26461T>G (p.Tyr8821Asp) c.26449T>G (p.Tyr8817Asp) c.26440T>G (p.Tyr8814Asp) c.26419T>G (p.Tyr8807Asp) c.26410T>G (p.Tyr8804Asp) c.26404T>G (p.Tyr8802Asp) c.26392T>G (p.Tyr8798Asp) c.26389T>G (p.Tyr8797Asp) c.26350T>G (p.Tyr8784Asp) c.26335T>G (p.Tyr8779Asp) c.26320T>G (p.Tyr8774Asp) c.26308T>G (p.Tyr8770Asp) c.26305T>G (p.Tyr8769Asp) c.26302T>G (p.Tyr8768Asp) c.*125T>G (n.*125T>G) c.26458T>G (p.Tyr8820Asp) c.26446T>G (p.Tyr8816Asp) c.26296T>G (p.Tyr8766Asp) c.24736T>G (p.Tyr8246Asp) c.24229T>G (p.Tyr8077Asp) c.19696T>G (p.Tyr6566Asp) c.26434T>G (p.Tyr8812Asp) c.26383T>G (p.Tyr8795Asp) c.26347T>G (p.Tyr8783Asp) c.26194T>G (p.Tyr8732Asp) | |
6 | g.152122516A>G | CA366088714 | ESR1,SYNE1 | c.2848T>C (p.Tyr950His) c.26314T>C (p.Tyr8772His) c.26170T>C (p.Tyr8724His) c.1657T>C c.2032T>C c.1899T>C c.2164T>C (n.2164T>C) c.25099T>C (p.Tyr8367His) n.3062T>C c.5090T>C (n.5090T>C) n.10006T>C c.4193T>C (n.4193T>C) n.9898T>C c.851-2750A>G (n.851-2750A>G) n.2928T>C n.6951T>C c.2779T>C (p.Tyr927His) c.26461T>C (p.Tyr8821His) c.26449T>C (p.Tyr8817His) c.26440T>C (p.Tyr8814His) c.26419T>C (p.Tyr8807His) c.26410T>C (p.Tyr8804His) c.26404T>C (p.Tyr8802His) c.26392T>C (p.Tyr8798His) c.26389T>C (p.Tyr8797His) c.26350T>C (p.Tyr8784His) c.26335T>C (p.Tyr8779His) c.26320T>C (p.Tyr8774His) c.26308T>C (p.Tyr8770His) c.26305T>C (p.Tyr8769His) c.26302T>C (p.Tyr8768His) c.*125T>C (n.*125T>C) c.26458T>C (p.Tyr8820His) c.26446T>C (p.Tyr8816His) c.26296T>C (p.Tyr8766His) c.24736T>C (p.Tyr8246His) c.24229T>C (p.Tyr8077His) c.19696T>C (p.Tyr6566His) c.26434T>C (p.Tyr8812His) c.26383T>C (p.Tyr8795His) c.26347T>C (p.Tyr8783His) c.26194T>C (p.Tyr8732His) | gnomAD v4 |
6 | g.152122516A>T | CA366088715 | ESR1,SYNE1 | c.2848T>A (p.Tyr950Asn) c.26314T>A (p.Tyr8772Asn) c.26170T>A (p.Tyr8724Asn) c.1657T>A c.2032T>A c.1899T>A c.2164T>A (n.2164T>A) c.25099T>A (p.Tyr8367Asn) n.3062T>A c.5090T>A (n.5090T>A) n.10006T>A c.4193T>A (n.4193T>A) n.9898T>A c.851-2750A>T (n.851-2750A>T) n.2928T>A n.6951T>A c.2779T>A (p.Tyr927Asn) c.26461T>A (p.Tyr8821Asn) c.26449T>A (p.Tyr8817Asn) c.26440T>A (p.Tyr8814Asn) c.26419T>A (p.Tyr8807Asn) c.26410T>A (p.Tyr8804Asn) c.26404T>A (p.Tyr8802Asn) c.26392T>A (p.Tyr8798Asn) c.26389T>A (p.Tyr8797Asn) c.26350T>A (p.Tyr8784Asn) c.26335T>A (p.Tyr8779Asn) c.26320T>A (p.Tyr8774Asn) c.26308T>A (p.Tyr8770Asn) c.26305T>A (p.Tyr8769Asn) c.26302T>A (p.Tyr8768Asn) c.*125T>A (n.*125T>A) c.26458T>A (p.Tyr8820Asn) c.26446T>A (p.Tyr8816Asn) c.26296T>A (p.Tyr8766Asn) c.24736T>A (p.Tyr8246Asn) c.24229T>A (p.Tyr8077Asn) c.19696T>A (p.Tyr6566Asn) c.26434T>A (p.Tyr8812Asn) c.26383T>A (p.Tyr8795Asn) c.26347T>A (p.Tyr8783Asn) c.26194T>A (p.Tyr8732Asn) | |
6 | g.152122517G>A | CA4052588 | ESR1,SYNE1 | c.2847C>T (p.Asp949=) c.26313C>T (p.Asp8771=) c.26169C>T (p.Asp8723=) c.1656C>T c.2031C>T c.1898C>T c.2163C>T (n.2163C>T) c.25098C>T (p.Asp8366=) n.3061C>T c.5089C>T (n.5089C>T) n.10005C>T c.4192C>T (n.4192C>T) n.9897C>T c.851-2749G>A (n.851-2749G>A) n.2927C>T n.6950C>T c.2778C>T (p.Asp926=) c.26460C>T (p.Asp8820=) c.26448C>T (p.Asp8816=) c.26439C>T (p.Asp8813=) c.26418C>T (p.Asp8806=) c.26409C>T (p.Asp8803=) c.26403C>T (p.Asp8801=) c.26391C>T (p.Asp8797=) c.26388C>T (p.Asp8796=) c.26349C>T (p.Asp8783=) c.26334C>T (p.Asp8778=) c.26319C>T (p.Asp8773=) c.26307C>T (p.Asp8769=) c.26304C>T (p.Asp8768=) c.26301C>T (p.Asp8767=) c.*124C>T (n.*124C>T) c.26457C>T (p.Asp8819=) c.26445C>T (p.Asp8815=) c.26295C>T (p.Asp8765=) c.24735C>T (p.Asp8245=) c.24228C>T (p.Asp8076=) c.19695C>T (p.Asp6565=) c.26433C>T (p.Asp8811=) c.26382C>T (p.Asp8794=) c.26346C>T (p.Asp8782=) c.26193C>T (p.Asp8731=) | dbSNP ExAC gnomAD v4 |
6 | g.152122517G>C | CA366088717 | ESR1,SYNE1 | c.2847C>G (p.Asp949Glu) c.26313C>G (p.Asp8771Glu) c.26169C>G (p.Asp8723Glu) c.1656C>G c.2031C>G c.1898C>G c.2163C>G (n.2163C>G) c.25098C>G (p.Asp8366Glu) n.3061C>G c.5089C>G (n.5089C>G) n.10005C>G c.4192C>G (n.4192C>G) n.9897C>G c.851-2749G>C (n.851-2749G>C) n.2927C>G n.6950C>G c.2778C>G (p.Asp926Glu) c.26460C>G (p.Asp8820Glu) c.26448C>G (p.Asp8816Glu) c.26439C>G (p.Asp8813Glu) c.26418C>G (p.Asp8806Glu) c.26409C>G (p.Asp8803Glu) c.26403C>G (p.Asp8801Glu) c.26391C>G (p.Asp8797Glu) c.26388C>G (p.Asp8796Glu) c.26349C>G (p.Asp8783Glu) c.26334C>G (p.Asp8778Glu) c.26319C>G (p.Asp8773Glu) c.26307C>G (p.Asp8769Glu) c.26304C>G (p.Asp8768Glu) c.26301C>G (p.Asp8767Glu) c.*124C>G (n.*124C>G) c.26457C>G (p.Asp8819Glu) c.26445C>G (p.Asp8815Glu) c.26295C>G (p.Asp8765Glu) c.24735C>G (p.Asp8245Glu) c.24228C>G (p.Asp8076Glu) c.19695C>G (p.Asp6565Glu) c.26433C>G (p.Asp8811Glu) c.26382C>G (p.Asp8794Glu) c.26346C>G (p.Asp8782Glu) c.26193C>G (p.Asp8731Glu) | gnomAD v3 gnomAD v4 |
6 | g.152122517G= | CA1673188909 | ESR1,SYNE1 | c.2847C= (p.Asp949=) c.26313C= (p.Asp8771=) c.26169C= (p.Asp8723=) c.1656C= c.2031C= c.1898C= c.2163C= (n.2163C=) c.25098C= (p.Asp8366=) n.3061C= c.5089C= (n.5089C=) n.10005C= c.4192C= (n.4192C=) n.9897C= c.851-2749G= (n.851-2749G=) n.2927C= n.6950C= c.2778C= (p.Asp926=) c.26460C= (p.Asp8820=) c.26448C= (p.Asp8816=) c.26439C= (p.Asp8813=) c.26418C= (p.Asp8806=) c.26409C= (p.Asp8803=) c.26403C= (p.Asp8801=) c.26391C= (p.Asp8797=) c.26388C= (p.Asp8796=) c.26349C= (p.Asp8783=) c.26334C= (p.Asp8778=) c.26319C= (p.Asp8773=) c.26307C= (p.Asp8769=) c.26304C= (p.Asp8768=) c.26301C= (p.Asp8767=) c.*124C= (n.*124C=) c.26457C= (p.Asp8819=) c.26445C= (p.Asp8815=) c.26295C= (p.Asp8765=) c.24735C= (p.Asp8245=) c.24228C= (p.Asp8076=) c.19695C= (p.Asp6565=) c.26433C= (p.Asp8811=) c.26382C= (p.Asp8794=) c.26346C= (p.Asp8782=) c.26193C= (p.Asp8731=) | |
6 | g.152122517G>T | CA366088719 | ESR1,SYNE1 | c.2847C>A (p.Asp949Glu) c.26313C>A (p.Asp8771Glu) c.26169C>A (p.Asp8723Glu) c.1656C>A c.2031C>A c.1898C>A c.2163C>A (n.2163C>A) c.25098C>A (p.Asp8366Glu) n.3061C>A c.5089C>A (n.5089C>A) n.10005C>A c.4192C>A (n.4192C>A) n.9897C>A c.851-2749G>T (n.851-2749G>T) n.2927C>A n.6950C>A c.2778C>A (p.Asp926Glu) c.26460C>A (p.Asp8820Glu) c.26448C>A (p.Asp8816Glu) c.26439C>A (p.Asp8813Glu) c.26418C>A (p.Asp8806Glu) c.26409C>A (p.Asp8803Glu) c.26403C>A (p.Asp8801Glu) c.26391C>A (p.Asp8797Glu) c.26388C>A (p.Asp8796Glu) c.26349C>A (p.Asp8783Glu) c.26334C>A (p.Asp8778Glu) c.26319C>A (p.Asp8773Glu) c.26307C>A (p.Asp8769Glu) c.26304C>A (p.Asp8768Glu) c.26301C>A (p.Asp8767Glu) c.*124C>A (n.*124C>A) c.26457C>A (p.Asp8819Glu) c.26445C>A (p.Asp8815Glu) c.26295C>A (p.Asp8765Glu) c.24735C>A (p.Asp8245Glu) c.24228C>A (p.Asp8076Glu) c.19695C>A (p.Asp6565Glu) c.26433C>A (p.Asp8811Glu) c.26382C>A (p.Asp8794Glu) c.26346C>A (p.Asp8782Glu) c.26193C>A (p.Asp8731Glu) | |
6 | g.152122518T>A | CA366088724 | ESR1,SYNE1 | c.2846A>T (p.Asp949Val) c.26312A>T (p.Asp8771Val) c.26168A>T (p.Asp8723Val) c.1655A>T c.2030A>T c.1897A>T c.2162A>T (n.2162A>T) c.25097A>T (p.Asp8366Val) n.3060A>T c.5088A>T (n.5088A>T) n.10004A>T c.4191A>T (n.4191A>T) n.9896A>T c.851-2748T>A (n.851-2748T>A) n.2926A>T n.6949A>T c.2777A>T (p.Asp926Val) c.26459A>T (p.Asp8820Val) c.26447A>T (p.Asp8816Val) c.26438A>T (p.Asp8813Val) c.26417A>T (p.Asp8806Val) c.26408A>T (p.Asp8803Val) c.26402A>T (p.Asp8801Val) c.26390A>T (p.Asp8797Val) c.26387A>T (p.Asp8796Val) c.26348A>T (p.Asp8783Val) c.26333A>T (p.Asp8778Val) c.26318A>T (p.Asp8773Val) c.26306A>T (p.Asp8769Val) c.26303A>T (p.Asp8768Val) c.26300A>T (p.Asp8767Val) c.*123A>T (n.*123A>T) c.26456A>T (p.Asp8819Val) c.26444A>T (p.Asp8815Val) c.26294A>T (p.Asp8765Val) c.24734A>T (p.Asp8245Val) c.24227A>T (p.Asp8076Val) c.19694A>T (p.Asp6565Val) c.26432A>T (p.Asp8811Val) c.26381A>T (p.Asp8794Val) c.26345A>T (p.Asp8782Val) c.26192A>T (p.Asp8731Val) | |
6 | g.152122518T>C | CA366088720 | ESR1,SYNE1 | c.2846A>G (p.Asp949Gly) c.26312A>G (p.Asp8771Gly) c.26168A>G (p.Asp8723Gly) c.1655A>G c.2030A>G c.1897A>G c.2162A>G (n.2162A>G) c.25097A>G (p.Asp8366Gly) n.3060A>G c.5088A>G (n.5088A>G) n.10004A>G c.4191A>G (n.4191A>G) n.9896A>G c.851-2748T>C (n.851-2748T>C) n.2926A>G n.6949A>G c.2777A>G (p.Asp926Gly) c.26459A>G (p.Asp8820Gly) c.26447A>G (p.Asp8816Gly) c.26438A>G (p.Asp8813Gly) c.26417A>G (p.Asp8806Gly) c.26408A>G (p.Asp8803Gly) c.26402A>G (p.Asp8801Gly) c.26390A>G (p.Asp8797Gly) c.26387A>G (p.Asp8796Gly) c.26348A>G (p.Asp8783Gly) c.26333A>G (p.Asp8778Gly) c.26318A>G (p.Asp8773Gly) c.26306A>G (p.Asp8769Gly) c.26303A>G (p.Asp8768Gly) c.26300A>G (p.Asp8767Gly) c.*123A>G (n.*123A>G) c.26456A>G (p.Asp8819Gly) c.26444A>G (p.Asp8815Gly) c.26294A>G (p.Asp8765Gly) c.24734A>G (p.Asp8245Gly) c.24227A>G (p.Asp8076Gly) c.19694A>G (p.Asp6565Gly) c.26432A>G (p.Asp8811Gly) c.26381A>G (p.Asp8794Gly) c.26345A>G (p.Asp8782Gly) c.26192A>G (p.Asp8731Gly) | |
6 | g.152122518T>G | CA366088722 | ESR1,SYNE1 | c.2846A>C (p.Asp949Ala) c.26312A>C (p.Asp8771Ala) c.26168A>C (p.Asp8723Ala) c.1655A>C c.2030A>C c.1897A>C c.2162A>C (n.2162A>C) c.25097A>C (p.Asp8366Ala) n.3060A>C c.5088A>C (n.5088A>C) n.10004A>C c.4191A>C (n.4191A>C) n.9896A>C c.851-2748T>G (n.851-2748T>G) n.2926A>C n.6949A>C c.2777A>C (p.Asp926Ala) c.26459A>C (p.Asp8820Ala) c.26447A>C (p.Asp8816Ala) c.26438A>C (p.Asp8813Ala) c.26417A>C (p.Asp8806Ala) c.26408A>C (p.Asp8803Ala) c.26402A>C (p.Asp8801Ala) c.26390A>C (p.Asp8797Ala) c.26387A>C (p.Asp8796Ala) c.26348A>C (p.Asp8783Ala) c.26333A>C (p.Asp8778Ala) c.26318A>C (p.Asp8773Ala) c.26306A>C (p.Asp8769Ala) c.26303A>C (p.Asp8768Ala) c.26300A>C (p.Asp8767Ala) c.*123A>C (n.*123A>C) c.26456A>C (p.Asp8819Ala) c.26444A>C (p.Asp8815Ala) c.26294A>C (p.Asp8765Ala) c.24734A>C (p.Asp8245Ala) c.24227A>C (p.Asp8076Ala) c.19694A>C (p.Asp6565Ala) c.26432A>C (p.Asp8811Ala) c.26381A>C (p.Asp8794Ala) c.26345A>C (p.Asp8782Ala) c.26192A>C (p.Asp8731Ala) | |
6 | g.152122519C>A | CA366088726 | ESR1,SYNE1 | c.2845G>T (p.Asp949Tyr) c.26311G>T (p.Asp8771Tyr) c.26167G>T (p.Asp8723Tyr) c.1654G>T c.2029G>T c.1896G>T c.2161G>T (n.2161G>T) c.25096G>T (p.Asp8366Tyr) n.3059G>T c.5087G>T (n.5087G>T) n.10003G>T c.4190G>T (n.4190G>T) n.9895G>T c.851-2747C>A (n.851-2747C>A) n.2925G>T n.6948G>T c.2776G>T (p.Asp926Tyr) c.26458G>T (p.Asp8820Tyr) c.26446G>T (p.Asp8816Tyr) c.26437G>T (p.Asp8813Tyr) c.26416G>T (p.Asp8806Tyr) c.26407G>T (p.Asp8803Tyr) c.26401G>T (p.Asp8801Tyr) c.26389G>T (p.Asp8797Tyr) c.26386G>T (p.Asp8796Tyr) c.26347G>T (p.Asp8783Tyr) c.26332G>T (p.Asp8778Tyr) c.26317G>T (p.Asp8773Tyr) c.26305G>T (p.Asp8769Tyr) c.26302G>T (p.Asp8768Tyr) c.26299G>T (p.Asp8767Tyr) c.*122G>T (n.*122G>T) c.26455G>T (p.Asp8819Tyr) c.26443G>T (p.Asp8815Tyr) c.26293G>T (p.Asp8765Tyr) c.24733G>T (p.Asp8245Tyr) c.24226G>T (p.Asp8076Tyr) c.19693G>T (p.Asp6565Tyr) c.26431G>T (p.Asp8811Tyr) c.26380G>T (p.Asp8794Tyr) c.26344G>T (p.Asp8782Tyr) c.26191G>T (p.Asp8731Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122519C= | CA1673188912 | ESR1,SYNE1 | c.2845G= (p.Asp949=) c.26311G= (p.Asp8771=) c.26167G= (p.Asp8723=) c.1654G= c.2029G= c.1896G= c.2161G= (n.2161G=) c.25096G= (p.Asp8366=) n.3059G= c.5087G= (n.5087G=) n.10003G= c.4190G= (n.4190G=) n.9895G= c.851-2747C= (n.851-2747C=) n.2925G= n.6948G= c.2776G= (p.Asp926=) c.26458G= (p.Asp8820=) c.26446G= (p.Asp8816=) c.26437G= (p.Asp8813=) c.26416G= (p.Asp8806=) c.26407G= (p.Asp8803=) c.26401G= (p.Asp8801=) c.26389G= (p.Asp8797=) c.26386G= (p.Asp8796=) c.26347G= (p.Asp8783=) c.26332G= (p.Asp8778=) c.26317G= (p.Asp8773=) c.26305G= (p.Asp8769=) c.26302G= (p.Asp8768=) c.26299G= (p.Asp8767=) c.*122G= (n.*122G=) c.26455G= (p.Asp8819=) c.26443G= (p.Asp8815=) c.26293G= (p.Asp8765=) c.24733G= (p.Asp8245=) c.24226G= (p.Asp8076=) c.19693G= (p.Asp6565=) c.26431G= (p.Asp8811=) c.26380G= (p.Asp8794=) c.26344G= (p.Asp8782=) c.26191G= (p.Asp8731=) | |
6 | g.152122519C>G | CA366088728 | ESR1,SYNE1 | c.2845G>C (p.Asp949His) c.26311G>C (p.Asp8771His) c.26167G>C (p.Asp8723His) c.1654G>C c.2029G>C c.1896G>C c.2161G>C (n.2161G>C) c.25096G>C (p.Asp8366His) n.3059G>C c.5087G>C (n.5087G>C) n.10003G>C c.4190G>C (n.4190G>C) n.9895G>C c.851-2747C>G (n.851-2747C>G) n.2925G>C n.6948G>C c.2776G>C (p.Asp926His) c.26458G>C (p.Asp8820His) c.26446G>C (p.Asp8816His) c.26437G>C (p.Asp8813His) c.26416G>C (p.Asp8806His) c.26407G>C (p.Asp8803His) c.26401G>C (p.Asp8801His) c.26389G>C (p.Asp8797His) c.26386G>C (p.Asp8796His) c.26347G>C (p.Asp8783His) c.26332G>C (p.Asp8778His) c.26317G>C (p.Asp8773His) c.26305G>C (p.Asp8769His) c.26302G>C (p.Asp8768His) c.26299G>C (p.Asp8767His) c.*122G>C (n.*122G>C) c.26455G>C (p.Asp8819His) c.26443G>C (p.Asp8815His) c.26293G>C (p.Asp8765His) c.24733G>C (p.Asp8245His) c.24226G>C (p.Asp8076His) c.19693G>C (p.Asp6565His) c.26431G>C (p.Asp8811His) c.26380G>C (p.Asp8794His) c.26344G>C (p.Asp8782His) c.26191G>C (p.Asp8731His) | |
6 | g.152122519C>T | CA366088730 | ESR1,SYNE1 | c.2845G>A (p.Asp949Asn) c.26311G>A (p.Asp8771Asn) c.26167G>A (p.Asp8723Asn) c.1654G>A c.2029G>A c.1896G>A c.2161G>A (n.2161G>A) c.25096G>A (p.Asp8366Asn) n.3059G>A c.5087G>A (n.5087G>A) n.10003G>A c.4190G>A (n.4190G>A) n.9895G>A c.851-2747C>T (n.851-2747C>T) n.2925G>A n.6948G>A c.2776G>A (p.Asp926Asn) c.26458G>A (p.Asp8820Asn) c.26446G>A (p.Asp8816Asn) c.26437G>A (p.Asp8813Asn) c.26416G>A (p.Asp8806Asn) c.26407G>A (p.Asp8803Asn) c.26401G>A (p.Asp8801Asn) c.26389G>A (p.Asp8797Asn) c.26386G>A (p.Asp8796Asn) c.26347G>A (p.Asp8783Asn) c.26332G>A (p.Asp8778Asn) c.26317G>A (p.Asp8773Asn) c.26305G>A (p.Asp8769Asn) c.26302G>A (p.Asp8768Asn) c.26299G>A (p.Asp8767Asn) c.*122G>A (n.*122G>A) c.26455G>A (p.Asp8819Asn) c.26443G>A (p.Asp8815Asn) c.26293G>A (p.Asp8765Asn) c.24733G>A (p.Asp8245Asn) c.24226G>A (p.Asp8076Asn) c.19693G>A (p.Asp6565Asn) c.26431G>A (p.Asp8811Asn) c.26380G>A (p.Asp8794Asn) c.26344G>A (p.Asp8782Asn) c.26191G>A (p.Asp8731Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122520T>A | CA366088732 | ESR1,SYNE1 | c.2844A>T (p.Glu948Asp) c.26310A>T (p.Glu8770Asp) c.26166A>T (p.Glu8722Asp) c.1653A>T c.2028A>T c.1895A>T c.2160A>T (n.2160A>T) c.25095A>T (p.Glu8365Asp) n.3058A>T c.5086A>T (n.5086A>T) n.10002A>T c.4189A>T (n.4189A>T) n.9894A>T c.851-2746T>A (n.851-2746T>A) n.2924A>T n.6947A>T c.2775A>T (p.Glu925Asp) c.26457A>T (p.Glu8819Asp) c.26445A>T (p.Glu8815Asp) c.26436A>T (p.Glu8812Asp) c.26415A>T (p.Glu8805Asp) c.26406A>T (p.Glu8802Asp) c.26400A>T (p.Glu8800Asp) c.26388A>T (p.Glu8796Asp) c.26385A>T (p.Glu8795Asp) c.26346A>T (p.Glu8782Asp) c.26331A>T (p.Glu8777Asp) c.26316A>T (p.Glu8772Asp) c.26304A>T (p.Glu8768Asp) c.26301A>T (p.Glu8767Asp) c.26298A>T (p.Glu8766Asp) c.*121A>T (n.*121A>T) c.26454A>T (p.Glu8818Asp) c.26442A>T (p.Glu8814Asp) c.26292A>T (p.Glu8764Asp) c.24732A>T (p.Glu8244Asp) c.24225A>T (p.Glu8075Asp) c.19692A>T (p.Glu6564Asp) c.26430A>T (p.Glu8810Asp) c.26379A>T (p.Glu8793Asp) c.26343A>T (p.Glu8781Asp) c.26190A>T (p.Glu8730Asp) | |
6 | g.152122520T>C | CA452969625 | ESR1,SYNE1 | c.2844A>G (p.Glu948=) c.26310A>G (p.Glu8770=) c.26166A>G (p.Glu8722=) c.1653A>G c.2028A>G c.1895A>G c.2160A>G (n.2160A>G) c.25095A>G (p.Glu8365=) n.3058A>G c.5086A>G (n.5086A>G) n.10002A>G c.4189A>G (n.4189A>G) n.9894A>G c.851-2746T>C (n.851-2746T>C) n.2924A>G n.6947A>G c.2775A>G (p.Glu925=) c.26457A>G (p.Glu8819=) c.26445A>G (p.Glu8815=) c.26436A>G (p.Glu8812=) c.26415A>G (p.Glu8805=) c.26406A>G (p.Glu8802=) c.26400A>G (p.Glu8800=) c.26388A>G (p.Glu8796=) c.26385A>G (p.Glu8795=) c.26346A>G (p.Glu8782=) c.26331A>G (p.Glu8777=) c.26316A>G (p.Glu8772=) c.26304A>G (p.Glu8768=) c.26301A>G (p.Glu8767=) c.26298A>G (p.Glu8766=) c.*121A>G (n.*121A>G) c.26454A>G (p.Glu8818=) c.26442A>G (p.Glu8814=) c.26292A>G (p.Glu8764=) c.24732A>G (p.Glu8244=) c.24225A>G (p.Glu8075=) c.19692A>G (p.Glu6564=) c.26430A>G (p.Glu8810=) c.26379A>G (p.Glu8793=) c.26343A>G (p.Glu8781=) c.26190A>G (p.Glu8730=) | |
6 | g.152122520T>G | CA366088736 | ESR1,SYNE1 | c.2844A>C (p.Glu948Asp) c.26310A>C (p.Glu8770Asp) c.26166A>C (p.Glu8722Asp) c.1653A>C c.2028A>C c.1895A>C c.2160A>C (n.2160A>C) c.25095A>C (p.Glu8365Asp) n.3058A>C c.5086A>C (n.5086A>C) n.10002A>C c.4189A>C (n.4189A>C) n.9894A>C c.851-2746T>G (n.851-2746T>G) n.2924A>C n.6947A>C c.2775A>C (p.Glu925Asp) c.26457A>C (p.Glu8819Asp) c.26445A>C (p.Glu8815Asp) c.26436A>C (p.Glu8812Asp) c.26415A>C (p.Glu8805Asp) c.26406A>C (p.Glu8802Asp) c.26400A>C (p.Glu8800Asp) c.26388A>C (p.Glu8796Asp) c.26385A>C (p.Glu8795Asp) c.26346A>C (p.Glu8782Asp) c.26331A>C (p.Glu8777Asp) c.26316A>C (p.Glu8772Asp) c.26304A>C (p.Glu8768Asp) c.26301A>C (p.Glu8767Asp) c.26298A>C (p.Glu8766Asp) c.*121A>C (n.*121A>C) c.26454A>C (p.Glu8818Asp) c.26442A>C (p.Glu8814Asp) c.26292A>C (p.Glu8764Asp) c.24732A>C (p.Glu8244Asp) c.24225A>C (p.Glu8075Asp) c.19692A>C (p.Glu6564Asp) c.26430A>C (p.Glu8810Asp) c.26379A>C (p.Glu8793Asp) c.26343A>C (p.Glu8781Asp) c.26190A>C (p.Glu8730Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122521T>A | CA366088740 | ESR1,SYNE1 | c.2843A>T (p.Glu948Val) c.26309A>T (p.Glu8770Val) c.26165A>T (p.Glu8722Val) c.1652A>T c.2027A>T c.1894A>T c.2159A>T (n.2159A>T) c.25094A>T (p.Glu8365Val) n.3057A>T c.5085A>T (n.5085A>T) n.10001A>T c.4188A>T (n.4188A>T) n.9893A>T c.851-2745T>A (n.851-2745T>A) n.2923A>T n.6946A>T c.2774A>T (p.Glu925Val) c.26456A>T (p.Glu8819Val) c.26444A>T (p.Glu8815Val) c.26435A>T (p.Glu8812Val) c.26414A>T (p.Glu8805Val) c.26405A>T (p.Glu8802Val) c.26399A>T (p.Glu8800Val) c.26387A>T (p.Glu8796Val) c.26384A>T (p.Glu8795Val) c.26345A>T (p.Glu8782Val) c.26330A>T (p.Glu8777Val) c.26315A>T (p.Glu8772Val) c.26303A>T (p.Glu8768Val) c.26300A>T (p.Glu8767Val) c.26297A>T (p.Glu8766Val) c.*120A>T (n.*120A>T) c.26453A>T (p.Glu8818Val) c.26441A>T (p.Glu8814Val) c.26291A>T (p.Glu8764Val) c.24731A>T (p.Glu8244Val) c.24224A>T (p.Glu8075Val) c.19691A>T (p.Glu6564Val) c.26429A>T (p.Glu8810Val) c.26378A>T (p.Glu8793Val) c.26342A>T (p.Glu8781Val) c.26189A>T (p.Glu8730Val) | |
6 | g.152122521T>C | CA366088742 | ESR1,SYNE1 | c.2843A>G (p.Glu948Gly) c.26309A>G (p.Glu8770Gly) c.26165A>G (p.Glu8722Gly) c.1652A>G c.2027A>G c.1894A>G c.2159A>G (n.2159A>G) c.25094A>G (p.Glu8365Gly) n.3057A>G c.5085A>G (n.5085A>G) n.10001A>G c.4188A>G (n.4188A>G) n.9893A>G c.851-2745T>C (n.851-2745T>C) n.2923A>G n.6946A>G c.2774A>G (p.Glu925Gly) c.26456A>G (p.Glu8819Gly) c.26444A>G (p.Glu8815Gly) c.26435A>G (p.Glu8812Gly) c.26414A>G (p.Glu8805Gly) c.26405A>G (p.Glu8802Gly) c.26399A>G (p.Glu8800Gly) c.26387A>G (p.Glu8796Gly) c.26384A>G (p.Glu8795Gly) c.26345A>G (p.Glu8782Gly) c.26330A>G (p.Glu8777Gly) c.26315A>G (p.Glu8772Gly) c.26303A>G (p.Glu8768Gly) c.26300A>G (p.Glu8767Gly) c.26297A>G (p.Glu8766Gly) c.*120A>G (n.*120A>G) c.26453A>G (p.Glu8818Gly) c.26441A>G (p.Glu8814Gly) c.26291A>G (p.Glu8764Gly) c.24731A>G (p.Glu8244Gly) c.24224A>G (p.Glu8075Gly) c.19691A>G (p.Glu6564Gly) c.26429A>G (p.Glu8810Gly) c.26378A>G (p.Glu8793Gly) c.26342A>G (p.Glu8781Gly) c.26189A>G (p.Glu8730Gly) | |
6 | g.152122521T>G | CA366088743 | ESR1,SYNE1 | c.2843A>C (p.Glu948Ala) c.26309A>C (p.Glu8770Ala) c.26165A>C (p.Glu8722Ala) c.1652A>C c.2027A>C c.1894A>C c.2159A>C (n.2159A>C) c.25094A>C (p.Glu8365Ala) n.3057A>C c.5085A>C (n.5085A>C) n.10001A>C c.4188A>C (n.4188A>C) n.9893A>C c.851-2745T>G (n.851-2745T>G) n.2923A>C n.6946A>C c.2774A>C (p.Glu925Ala) c.26456A>C (p.Glu8819Ala) c.26444A>C (p.Glu8815Ala) c.26435A>C (p.Glu8812Ala) c.26414A>C (p.Glu8805Ala) c.26405A>C (p.Glu8802Ala) c.26399A>C (p.Glu8800Ala) c.26387A>C (p.Glu8796Ala) c.26384A>C (p.Glu8795Ala) c.26345A>C (p.Glu8782Ala) c.26330A>C (p.Glu8777Ala) c.26315A>C (p.Glu8772Ala) c.26303A>C (p.Glu8768Ala) c.26300A>C (p.Glu8767Ala) c.26297A>C (p.Glu8766Ala) c.*120A>C (n.*120A>C) c.26453A>C (p.Glu8818Ala) c.26441A>C (p.Glu8814Ala) c.26291A>C (p.Glu8764Ala) c.24731A>C (p.Glu8244Ala) c.24224A>C (p.Glu8075Ala) c.19691A>C (p.Glu6564Ala) c.26429A>C (p.Glu8810Ala) c.26378A>C (p.Glu8793Ala) c.26342A>C (p.Glu8781Ala) c.26189A>C (p.Glu8730Ala) | |
6 | g.152122522C>A | CA366088745 | ESR1,SYNE1 | c.2842G>T (p.Glu948Ter) c.26308G>T (p.Glu8770Ter) c.26164G>T (p.Glu8722Ter) c.1651G>T c.2026G>T c.1893G>T c.2158G>T (n.2158G>T) c.25093G>T (p.Glu8365Ter) n.3056G>T c.5084G>T (n.5084G>T) n.10000G>T c.4187G>T (n.4187G>T) n.9892G>T c.851-2744C>A (n.851-2744C>A) n.2922G>T n.6945G>T c.2773G>T (p.Glu925Ter) c.26455G>T (p.Glu8819Ter) c.26443G>T (p.Glu8815Ter) c.26434G>T (p.Glu8812Ter) c.26413G>T (p.Glu8805Ter) c.26404G>T (p.Glu8802Ter) c.26398G>T (p.Glu8800Ter) c.26386G>T (p.Glu8796Ter) c.26383G>T (p.Glu8795Ter) c.26344G>T (p.Glu8782Ter) c.26329G>T (p.Glu8777Ter) c.26314G>T (p.Glu8772Ter) c.26302G>T (p.Glu8768Ter) c.26299G>T (p.Glu8767Ter) c.26296G>T (p.Glu8766Ter) c.*119G>T (n.*119G>T) c.26452G>T (p.Glu8818Ter) c.26440G>T (p.Glu8814Ter) c.26290G>T (p.Glu8764Ter) c.24730G>T (p.Glu8244Ter) c.24223G>T (p.Glu8075Ter) c.19690G>T (p.Glu6564Ter) c.26428G>T (p.Glu8810Ter) c.26377G>T (p.Glu8793Ter) c.26341G>T (p.Glu8781Ter) c.26188G>T (p.Glu8730Ter) | |
6 | g.152122522C>G | CA366088747 | ESR1,SYNE1 | c.2842G>C (p.Glu948Gln) c.26308G>C (p.Glu8770Gln) c.26164G>C (p.Glu8722Gln) c.1651G>C c.2026G>C c.1893G>C c.2158G>C (n.2158G>C) c.25093G>C (p.Glu8365Gln) n.3056G>C c.5084G>C (n.5084G>C) n.10000G>C c.4187G>C (n.4187G>C) n.9892G>C c.851-2744C>G (n.851-2744C>G) n.2922G>C n.6945G>C c.2773G>C (p.Glu925Gln) c.26455G>C (p.Glu8819Gln) c.26443G>C (p.Glu8815Gln) c.26434G>C (p.Glu8812Gln) c.26413G>C (p.Glu8805Gln) c.26404G>C (p.Glu8802Gln) c.26398G>C (p.Glu8800Gln) c.26386G>C (p.Glu8796Gln) c.26383G>C (p.Glu8795Gln) c.26344G>C (p.Glu8782Gln) c.26329G>C (p.Glu8777Gln) c.26314G>C (p.Glu8772Gln) c.26302G>C (p.Glu8768Gln) c.26299G>C (p.Glu8767Gln) c.26296G>C (p.Glu8766Gln) c.*119G>C (n.*119G>C) c.26452G>C (p.Glu8818Gln) c.26440G>C (p.Glu8814Gln) c.26290G>C (p.Glu8764Gln) c.24730G>C (p.Glu8244Gln) c.24223G>C (p.Glu8075Gln) c.19690G>C (p.Glu6564Gln) c.26428G>C (p.Glu8810Gln) c.26377G>C (p.Glu8793Gln) c.26341G>C (p.Glu8781Gln) c.26188G>C (p.Glu8730Gln) | |
6 | g.152122522C>T | CA366088749 | ESR1,SYNE1 | c.2842G>A (p.Glu948Lys) c.26308G>A (p.Glu8770Lys) c.26164G>A (p.Glu8722Lys) c.1651G>A c.2026G>A c.1893G>A c.2158G>A (n.2158G>A) c.25093G>A (p.Glu8365Lys) n.3056G>A c.5084G>A (n.5084G>A) n.10000G>A c.4187G>A (n.4187G>A) n.9892G>A c.851-2744C>T (n.851-2744C>T) n.2922G>A n.6945G>A c.2773G>A (p.Glu925Lys) c.26455G>A (p.Glu8819Lys) c.26443G>A (p.Glu8815Lys) c.26434G>A (p.Glu8812Lys) c.26413G>A (p.Glu8805Lys) c.26404G>A (p.Glu8802Lys) c.26398G>A (p.Glu8800Lys) c.26386G>A (p.Glu8796Lys) c.26383G>A (p.Glu8795Lys) c.26344G>A (p.Glu8782Lys) c.26329G>A (p.Glu8777Lys) c.26314G>A (p.Glu8772Lys) c.26302G>A (p.Glu8768Lys) c.26299G>A (p.Glu8767Lys) c.26296G>A (p.Glu8766Lys) c.*119G>A (n.*119G>A) c.26452G>A (p.Glu8818Lys) c.26440G>A (p.Glu8814Lys) c.26290G>A (p.Glu8764Lys) c.24730G>A (p.Glu8244Lys) c.24223G>A (p.Glu8075Lys) c.19690G>A (p.Glu6564Lys) c.26428G>A (p.Glu8810Lys) c.26377G>A (p.Glu8793Lys) c.26341G>A (p.Glu8781Lys) c.26188G>A (p.Glu8730Lys) | ClinVar |
6 | g.152122523C>A | CA366088754 | ESR1,SYNE1 | c.2841G>T (p.Glu947Asp) c.26307G>T (p.Glu8769Asp) c.26163G>T (p.Glu8721Asp) c.1650G>T c.2025G>T c.1892G>T c.2157G>T (n.2157G>T) c.25092G>T (p.Glu8364Asp) n.3055G>T c.5083G>T (n.5083G>T) n.9999G>T c.4186G>T (n.4186G>T) n.9891G>T c.851-2743C>A (n.851-2743C>A) n.2921G>T n.6944G>T c.2772G>T (p.Glu924Asp) c.26454G>T (p.Glu8818Asp) c.26442G>T (p.Glu8814Asp) c.26433G>T (p.Glu8811Asp) c.26412G>T (p.Glu8804Asp) c.26403G>T (p.Glu8801Asp) c.26397G>T (p.Glu8799Asp) c.26385G>T (p.Glu8795Asp) c.26382G>T (p.Glu8794Asp) c.26343G>T (p.Glu8781Asp) c.26328G>T (p.Glu8776Asp) c.26313G>T (p.Glu8771Asp) c.26301G>T (p.Glu8767Asp) c.26298G>T (p.Glu8766Asp) c.26295G>T (p.Glu8765Asp) c.*118G>T (n.*118G>T) c.26451G>T (p.Glu8817Asp) c.26439G>T (p.Glu8813Asp) c.26289G>T (p.Glu8763Asp) c.24729G>T (p.Glu8243Asp) c.24222G>T (p.Glu8074Asp) c.19689G>T (p.Glu6563Asp) c.26427G>T (p.Glu8809Asp) c.26376G>T (p.Glu8792Asp) c.26340G>T (p.Glu8780Asp) c.26187G>T (p.Glu8729Asp) | |
6 | g.152122523C= | CA1673188916 | ESR1,SYNE1 | c.2841G= (p.Glu947=) c.26307G= (p.Glu8769=) c.26163G= (p.Glu8721=) c.1650G= c.2025G= c.1892G= c.2157G= (n.2157G=) c.25092G= (p.Glu8364=) n.3055G= c.5083G= (n.5083G=) n.9999G= c.4186G= (n.4186G=) n.9891G= c.851-2743C= (n.851-2743C=) n.2921G= n.6944G= c.2772G= (p.Glu924=) c.26454G= (p.Glu8818=) c.26442G= (p.Glu8814=) c.26433G= (p.Glu8811=) c.26412G= (p.Glu8804=) c.26403G= (p.Glu8801=) c.26397G= (p.Glu8799=) c.26385G= (p.Glu8795=) c.26382G= (p.Glu8794=) c.26343G= (p.Glu8781=) c.26328G= (p.Glu8776=) c.26313G= (p.Glu8771=) c.26301G= (p.Glu8767=) c.26298G= (p.Glu8766=) c.26295G= (p.Glu8765=) c.*118G= (n.*118G=) c.26451G= (p.Glu8817=) c.26439G= (p.Glu8813=) c.26289G= (p.Glu8763=) c.24729G= (p.Glu8243=) c.24222G= (p.Glu8074=) c.19689G= (p.Glu6563=) c.26427G= (p.Glu8809=) c.26376G= (p.Glu8792=) c.26340G= (p.Glu8780=) c.26187G= (p.Glu8729=) | |
6 | g.152122523C>G | CA366088752 | ESR1,SYNE1 | c.2841G>C (p.Glu947Asp) c.26307G>C (p.Glu8769Asp) c.26163G>C (p.Glu8721Asp) c.1650G>C c.2025G>C c.1892G>C c.2157G>C (n.2157G>C) c.25092G>C (p.Glu8364Asp) n.3055G>C c.5083G>C (n.5083G>C) n.9999G>C c.4186G>C (n.4186G>C) n.9891G>C c.851-2743C>G (n.851-2743C>G) n.2921G>C n.6944G>C c.2772G>C (p.Glu924Asp) c.26454G>C (p.Glu8818Asp) c.26442G>C (p.Glu8814Asp) c.26433G>C (p.Glu8811Asp) c.26412G>C (p.Glu8804Asp) c.26403G>C (p.Glu8801Asp) c.26397G>C (p.Glu8799Asp) c.26385G>C (p.Glu8795Asp) c.26382G>C (p.Glu8794Asp) c.26343G>C (p.Glu8781Asp) c.26328G>C (p.Glu8776Asp) c.26313G>C (p.Glu8771Asp) c.26301G>C (p.Glu8767Asp) c.26298G>C (p.Glu8766Asp) c.26295G>C (p.Glu8765Asp) c.*118G>C (n.*118G>C) c.26451G>C (p.Glu8817Asp) c.26439G>C (p.Glu8813Asp) c.26289G>C (p.Glu8763Asp) c.24729G>C (p.Glu8243Asp) c.24222G>C (p.Glu8074Asp) c.19689G>C (p.Glu6563Asp) c.26427G>C (p.Glu8809Asp) c.26376G>C (p.Glu8792Asp) c.26340G>C (p.Glu8780Asp) c.26187G>C (p.Glu8729Asp) | |
6 | g.152122523C>T | CA4052589 | ESR1,SYNE1 | c.2841G>A (p.Glu947=) c.26307G>A (p.Glu8769=) c.26163G>A (p.Glu8721=) c.1650G>A c.2025G>A c.1892G>A c.2157G>A (n.2157G>A) c.25092G>A (p.Glu8364=) n.3055G>A c.5083G>A (n.5083G>A) n.9999G>A c.4186G>A (n.4186G>A) n.9891G>A c.851-2743C>T (n.851-2743C>T) n.2921G>A n.6944G>A c.2772G>A (p.Glu924=) c.26454G>A (p.Glu8818=) c.26442G>A (p.Glu8814=) c.26433G>A (p.Glu8811=) c.26412G>A (p.Glu8804=) c.26403G>A (p.Glu8801=) c.26397G>A (p.Glu8799=) c.26385G>A (p.Glu8795=) c.26382G>A (p.Glu8794=) c.26343G>A (p.Glu8781=) c.26328G>A (p.Glu8776=) c.26313G>A (p.Glu8771=) c.26301G>A (p.Glu8767=) c.26298G>A (p.Glu8766=) c.26295G>A (p.Glu8765=) c.*118G>A (n.*118G>A) c.26451G>A (p.Glu8817=) c.26439G>A (p.Glu8813=) c.26289G>A (p.Glu8763=) c.24729G>A (p.Glu8243=) c.24222G>A (p.Glu8074=) c.19689G>A (p.Glu6563=) c.26427G>A (p.Glu8809=) c.26376G>A (p.Glu8792=) c.26340G>A (p.Glu8780=) c.26187G>A (p.Glu8729=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122525_152122526del | CA645564552 | ESR1,SYNE1 | c.2840_2841del (p.Glu947GlyfsTer?) c.26306_26307del (p.Glu8769GlyfsTer?) c.26162_26163del (p.Glu8721GlyfsTer?) c.1649_1650del c.2024_2025del c.1891_1892del c.2156_2157del (n.2156_2157del) c.25091_25092del (p.Glu8364GlyfsTer?) n.3054_3055del c.5082_5083del (n.5082_5083del) n.9998_9999del c.4185_4186del (n.4185_4186del) n.9890_9891del c.851-2741_851-2740del (n.851-2741_851-2740del) n.2920_2921del n.6943_6944del c.2771_2772del (p.Glu924GlyfsTer?) c.26453_26454del (p.Glu8818GlyfsTer?) c.26441_26442del (p.Glu8814GlyfsTer?) c.26432_26433del (p.Glu8811GlyfsTer?) c.26411_26412del (p.Glu8804GlyfsTer?) c.26402_26403del (p.Glu8801GlyfsTer?) c.26396_26397del (p.Glu8799GlyfsTer?) c.26384_26385del (p.Glu8795GlyfsTer?) c.26381_26382del (p.Glu8794GlyfsTer?) c.26342_26343del (p.Glu8781GlyfsTer?) c.26327_26328del (p.Glu8776GlyfsTer?) c.26312_26313del (p.Glu8771GlyfsTer?) c.26300_26301del (p.Glu8767GlyfsTer?) c.26297_26298del (p.Glu8766GlyfsTer?) c.26294_26295del (p.Glu8765GlyfsTer?) c.*117_*118del (n.*117_*118del) c.26450_26451del (p.Glu8817GlyfsTer?) c.26438_26439del (p.Glu8813GlyfsTer?) c.26288_26289del (p.Glu8763GlyfsTer?) c.24728_24729del (p.Glu8243GlyfsTer?) c.24221_24222del (p.Glu8074GlyfsTer?) c.19688_19689del (p.Glu6563GlyfsTer?) c.26426_26427del (p.Glu8809GlyfsTer?) c.26375_26376del (p.Glu8792GlyfsTer?) c.26339_26340del (p.Glu8780GlyfsTer?) c.26186_26187del (p.Glu8729GlyfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122524T>A | CA366088757 | ESR1,SYNE1 | c.2840A>T (p.Glu947Val) c.26306A>T (p.Glu8769Val) c.26162A>T (p.Glu8721Val) c.1649A>T c.2024A>T c.1891A>T c.2156A>T (n.2156A>T) c.25091A>T (p.Glu8364Val) n.3054A>T c.5082A>T (n.5082A>T) n.9998A>T c.4185A>T (n.4185A>T) n.9890A>T c.851-2742T>A (n.851-2742T>A) n.2920A>T n.6943A>T c.2771A>T (p.Glu924Val) c.26453A>T (p.Glu8818Val) c.26441A>T (p.Glu8814Val) c.26432A>T (p.Glu8811Val) c.26411A>T (p.Glu8804Val) c.26402A>T (p.Glu8801Val) c.26396A>T (p.Glu8799Val) c.26384A>T (p.Glu8795Val) c.26381A>T (p.Glu8794Val) c.26342A>T (p.Glu8781Val) c.26327A>T (p.Glu8776Val) c.26312A>T (p.Glu8771Val) c.26300A>T (p.Glu8767Val) c.26297A>T (p.Glu8766Val) c.26294A>T (p.Glu8765Val) c.*117A>T (n.*117A>T) c.26450A>T (p.Glu8817Val) c.26438A>T (p.Glu8813Val) c.26288A>T (p.Glu8763Val) c.24728A>T (p.Glu8243Val) c.24221A>T (p.Glu8074Val) c.19688A>T (p.Glu6563Val) c.26426A>T (p.Glu8809Val) c.26375A>T (p.Glu8792Val) c.26339A>T (p.Glu8780Val) c.26186A>T (p.Glu8729Val) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122524T>C | CA366088761 | ESR1,SYNE1 | c.2840A>G (p.Glu947Gly) c.26306A>G (p.Glu8769Gly) c.26162A>G (p.Glu8721Gly) c.1649A>G c.2024A>G c.1891A>G c.2156A>G (n.2156A>G) c.25091A>G (p.Glu8364Gly) n.3054A>G c.5082A>G (n.5082A>G) n.9998A>G c.4185A>G (n.4185A>G) n.9890A>G c.851-2742T>C (n.851-2742T>C) n.2920A>G n.6943A>G c.2771A>G (p.Glu924Gly) c.26453A>G (p.Glu8818Gly) c.26441A>G (p.Glu8814Gly) c.26432A>G (p.Glu8811Gly) c.26411A>G (p.Glu8804Gly) c.26402A>G (p.Glu8801Gly) c.26396A>G (p.Glu8799Gly) c.26384A>G (p.Glu8795Gly) c.26381A>G (p.Glu8794Gly) c.26342A>G (p.Glu8781Gly) c.26327A>G (p.Glu8776Gly) c.26312A>G (p.Glu8771Gly) c.26300A>G (p.Glu8767Gly) c.26297A>G (p.Glu8766Gly) c.26294A>G (p.Glu8765Gly) c.*117A>G (n.*117A>G) c.26450A>G (p.Glu8817Gly) c.26438A>G (p.Glu8813Gly) c.26288A>G (p.Glu8763Gly) c.24728A>G (p.Glu8243Gly) c.24221A>G (p.Glu8074Gly) c.19688A>G (p.Glu6563Gly) c.26426A>G (p.Glu8809Gly) c.26375A>G (p.Glu8792Gly) c.26339A>G (p.Glu8780Gly) c.26186A>G (p.Glu8729Gly) | |
6 | g.152122524T>G | CA366088759 | ESR1,SYNE1 | c.2840A>C (p.Glu947Ala) c.26306A>C (p.Glu8769Ala) c.26162A>C (p.Glu8721Ala) c.1649A>C c.2024A>C c.1891A>C c.2156A>C (n.2156A>C) c.25091A>C (p.Glu8364Ala) n.3054A>C c.5082A>C (n.5082A>C) n.9998A>C c.4185A>C (n.4185A>C) n.9890A>C c.851-2742T>G (n.851-2742T>G) n.2920A>C n.6943A>C c.2771A>C (p.Glu924Ala) c.26453A>C (p.Glu8818Ala) c.26441A>C (p.Glu8814Ala) c.26432A>C (p.Glu8811Ala) c.26411A>C (p.Glu8804Ala) c.26402A>C (p.Glu8801Ala) c.26396A>C (p.Glu8799Ala) c.26384A>C (p.Glu8795Ala) c.26381A>C (p.Glu8794Ala) c.26342A>C (p.Glu8781Ala) c.26327A>C (p.Glu8776Ala) c.26312A>C (p.Glu8771Ala) c.26300A>C (p.Glu8767Ala) c.26297A>C (p.Glu8766Ala) c.26294A>C (p.Glu8765Ala) c.*117A>C (n.*117A>C) c.26450A>C (p.Glu8817Ala) c.26438A>C (p.Glu8813Ala) c.26288A>C (p.Glu8763Ala) c.24728A>C (p.Glu8243Ala) c.24221A>C (p.Glu8074Ala) c.19688A>C (p.Glu6563Ala) c.26426A>C (p.Glu8809Ala) c.26375A>C (p.Glu8792Ala) c.26339A>C (p.Glu8780Ala) c.26186A>C (p.Glu8729Ala) | |
6 | g.152122525C>A | CA366088764 | ESR1,SYNE1 | c.2839G>T (p.Glu947Ter) c.26305G>T (p.Glu8769Ter) c.26161G>T (p.Glu8721Ter) c.1648G>T c.2023G>T c.1890G>T c.2155G>T (n.2155G>T) c.25090G>T (p.Glu8364Ter) n.3053G>T c.5081G>T (n.5081G>T) n.9997G>T c.4184G>T (n.4184G>T) n.9889G>T c.851-2741C>A (n.851-2741C>A) n.2919G>T n.6942G>T c.2770G>T (p.Glu924Ter) c.26452G>T (p.Glu8818Ter) c.26440G>T (p.Glu8814Ter) c.26431G>T (p.Glu8811Ter) c.26410G>T (p.Glu8804Ter) c.26401G>T (p.Glu8801Ter) c.26395G>T (p.Glu8799Ter) c.26383G>T (p.Glu8795Ter) c.26380G>T (p.Glu8794Ter) c.26341G>T (p.Glu8781Ter) c.26326G>T (p.Glu8776Ter) c.26311G>T (p.Glu8771Ter) c.26299G>T (p.Glu8767Ter) c.26296G>T (p.Glu8766Ter) c.26293G>T (p.Glu8765Ter) c.*116G>T (n.*116G>T) c.26449G>T (p.Glu8817Ter) c.26437G>T (p.Glu8813Ter) c.26287G>T (p.Glu8763Ter) c.24727G>T (p.Glu8243Ter) c.24220G>T (p.Glu8074Ter) c.19687G>T (p.Glu6563Ter) c.26425G>T (p.Glu8809Ter) c.26374G>T (p.Glu8792Ter) c.26338G>T (p.Glu8780Ter) c.26185G>T (p.Glu8729Ter) | |
6 | g.152122525C= | CA1673188927 | ESR1,SYNE1 | c.2839G= (p.Glu947=) c.26305G= (p.Glu8769=) c.26161G= (p.Glu8721=) c.1648G= c.2023G= c.1890G= c.2155G= (n.2155G=) c.25090G= (p.Glu8364=) n.3053G= c.5081G= (n.5081G=) n.9997G= c.4184G= (n.4184G=) n.9889G= c.851-2741C= (n.851-2741C=) n.2919G= n.6942G= c.2770G= (p.Glu924=) c.26452G= (p.Glu8818=) c.26440G= (p.Glu8814=) c.26431G= (p.Glu8811=) c.26410G= (p.Glu8804=) c.26401G= (p.Glu8801=) c.26395G= (p.Glu8799=) c.26383G= (p.Glu8795=) c.26380G= (p.Glu8794=) c.26341G= (p.Glu8781=) c.26326G= (p.Glu8776=) c.26311G= (p.Glu8771=) c.26299G= (p.Glu8767=) c.26296G= (p.Glu8766=) c.26293G= (p.Glu8765=) c.*116G= (n.*116G=) c.26449G= (p.Glu8817=) c.26437G= (p.Glu8813=) c.26287G= (p.Glu8763=) c.24727G= (p.Glu8243=) c.24220G= (p.Glu8074=) c.19687G= (p.Glu6563=) c.26425G= (p.Glu8809=) c.26374G= (p.Glu8792=) c.26338G= (p.Glu8780=) c.26185G= (p.Glu8729=) | |
6 | g.152122525C>G | CA366088765 | ESR1,SYNE1 | c.2839G>C (p.Glu947Gln) c.26305G>C (p.Glu8769Gln) c.26161G>C (p.Glu8721Gln) c.1648G>C c.2023G>C c.1890G>C c.2155G>C (n.2155G>C) c.25090G>C (p.Glu8364Gln) n.3053G>C c.5081G>C (n.5081G>C) n.9997G>C c.4184G>C (n.4184G>C) n.9889G>C c.851-2741C>G (n.851-2741C>G) n.2919G>C n.6942G>C c.2770G>C (p.Glu924Gln) c.26452G>C (p.Glu8818Gln) c.26440G>C (p.Glu8814Gln) c.26431G>C (p.Glu8811Gln) c.26410G>C (p.Glu8804Gln) c.26401G>C (p.Glu8801Gln) c.26395G>C (p.Glu8799Gln) c.26383G>C (p.Glu8795Gln) c.26380G>C (p.Glu8794Gln) c.26341G>C (p.Glu8781Gln) c.26326G>C (p.Glu8776Gln) c.26311G>C (p.Glu8771Gln) c.26299G>C (p.Glu8767Gln) c.26296G>C (p.Glu8766Gln) c.26293G>C (p.Glu8765Gln) c.*116G>C (n.*116G>C) c.26449G>C (p.Glu8817Gln) c.26437G>C (p.Glu8813Gln) c.26287G>C (p.Glu8763Gln) c.24727G>C (p.Glu8243Gln) c.24220G>C (p.Glu8074Gln) c.19687G>C (p.Glu6563Gln) c.26425G>C (p.Glu8809Gln) c.26374G>C (p.Glu8792Gln) c.26338G>C (p.Glu8780Gln) c.26185G>C (p.Glu8729Gln) | |
6 | g.152122525C>T | CA366088767 | ESR1,SYNE1 | c.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 |
6 | g.152122526T>A | CA452969631 | ESR1,SYNE1 | c.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=) | |
6 | g.152122526T>C | CA452969633 | ESR1,SYNE1 | c.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 |
6 | g.152122526T>G | CA452969634 | ESR1,SYNE1 | c.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=) | |
6 | g.152122527G>A | CA366088769 | ESR1,SYNE1 | c.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) | |
6 | g.152122527G>C | CA366088770 | ESR1,SYNE1 | c.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) | |
6 | g.152122527G>T | CA366088772 | ESR1,SYNE1 | c.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) | |
6 | g.152122528A>C | CA366088774 | ESR1,SYNE1 | c.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) | |
6 | g.152122528A>G | CA366088776 | ESR1,SYNE1 | c.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) | |
6 | g.152122528A>T | CA366088778 | ESR1,SYNE1 | c.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) | |
6 | g.152122529C>A | CA366088780 | ESR1,SYNE1 | c.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) | |
6 | g.152122529C= | CA1673188930 | ESR1,SYNE1 | c.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=) | |
6 | g.152122529C>G | CA366088782 | ESR1,SYNE1 | c.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) | |
6 | g.152122529C>T | CA366088784 | ESR1,SYNE1 | c.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 |
6 | g.152122530A= | CA1673188936 | ESR1,SYNE1 | c.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=) | |
6 | g.152122530A>C | CA366088787 | ESR1,SYNE1 | c.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) | |
6 | g.152122530A>G | CA366088791 | ESR1,SYNE1 | c.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 |
6 | g.152122530A>T | CA366088789 | ESR1,SYNE1 | c.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) | |
6 | g.152122531T>A | CA4052590 | ESR1,SYNE1 | c.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 |
6 | g.152122531T>C | CA150189513 | ESR1,SYNE1 | c.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 |
6 | g.152122531T>G | CA366088795 | ESR1,SYNE1 | c.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) | |
6 | g.152122531T= | CA1673188943 | ESR1,SYNE1 | c.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=) | |
6 | g.152122532T>A | CA452969644 | ESR1,SYNE1 | c.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=) | |
6 | g.152122532T>C | CA4052591 | ESR1,SYNE1 | c.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 |
6 | g.152122532T>G | CA452969645 | ESR1,SYNE1 | c.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 |
6 | g.152122532T= | CA1673188953 | ESR1,SYNE1 | c.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=) | |
6 | g.152122533G>A | CA366088798 | ESR1,SYNE1 | c.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) | |
6 | g.152122533G>C | CA366088799 | ESR1,SYNE1 | c.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) | |
6 | g.152122533G>T | CA366088800 | ESR1,SYNE1 | c.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) | |
6 | g.152122534G>A | CA366088802 | ESR1,SYNE1 | c.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) | |
6 | g.152122534G>C | CA366088803 | ESR1,SYNE1 | c.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) | |
6 | g.152122534G>T | CA366088804 | ESR1,SYNE1 | c.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) | |
6 | g.152122535T>A | CA452969651 | ESR1,SYNE1 | c.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=) | |
6 | g.152122535T>C | CA452969652 | ESR1,SYNE1 | c.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=) | |
6 | g.152122535T>G | CA452969653 | ESR1,SYNE1 | c.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=) | |
6 | g.152122536A>C | CA366088806 | ESR1,SYNE1 | c.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) | |
6 | g.152122536A>G | CA366088807 | ESR1,SYNE1 | c.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) | |
6 | g.152122536A>T | CA366088805 | ESR1,SYNE1 | c.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) | |
6 | g.152122537C>A | CA366088808 | ESR1,SYNE1 | c.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) | |
6 | g.152122537C>G | CA366088809 | ESR1,SYNE1 | c.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) | |
6 | g.152122537C>T | CA366088810 | ESR1,SYNE1 | c.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 |
6 | g.152122538A>C | CA452969660 | ESR1,SYNE1 | c.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=) | |
6 | g.152122538A>G | CA452969658 | ESR1,SYNE1 | c.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=) | |
6 | g.152122538A>T | CA452969659 | ESR1,SYNE1 | c.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=) | |
6 | g.152122539A>C | CA366088811 | ESR1,SYNE1 | c.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) | |
6 | g.152122539A>G | CA366088812 | ESR1,SYNE1 | c.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) | |
6 | g.152122539A>T | CA366088813 | ESR1,SYNE1 | c.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) | |
6 | g.152122540G>A | CA366088816 | ESR1,SYNE1 | c.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 |
6 | g.152122540G>C | CA366088814 | ESR1,SYNE1 | c.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 |
6 | g.152122540G= | CA1673188958 | ESR1,SYNE1 | c.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=) | |
6 | g.152122540G>T | CA366088815 | ESR1,SYNE1 | c.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) | |
6 | g.152122541G>A | CA452969664 | ESR1,SYNE1 | c.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 |
6 | g.152122541G>C | CA366088817 | ESR1,SYNE1 | c.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) | |
6 | g.152122541G>T | CA366088818 | ESR1,SYNE1 | c.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) | |
6 | g.152122542C>A | CA366088820 | ESR1,SYNE1 | c.2822G>T (p.Cys941Phe) c.26288G>T (p.Cys8763Phe) c.26144G>T (p.Cys8715Phe) c.1631G>T c.2006G>T c.1873G>T c.2138G>T (n.2138G>T) c.25073G>T (p.Cys8358Phe) n.3036G>T c.5064G>T (n.5064G>T) n.9980G>T c.4167G>T (n.4167G>T) n.9872G>T c.851-2724C>A (n.851-2724C>A) n.2902G>T n.6925G>T c.2753G>T (p.Cys918Phe) c.26435G>T (p.Cys8812Phe) c.26423G>T (p.Cys8808Phe) c.26414G>T (p.Cys8805Phe) c.26393G>T (p.Cys8798Phe) c.26384G>T (p.Cys8795Phe) c.26378G>T (p.Cys8793Phe) c.26366G>T (p.Cys8789Phe) c.26363G>T (p.Cys8788Phe) c.26324G>T (p.Cys8775Phe) c.26309G>T (p.Cys8770Phe) c.26294G>T (p.Cys8765Phe) c.26282G>T (p.Cys8761Phe) c.26279G>T (p.Cys8760Phe) c.26276G>T (p.Cys8759Phe) c.*99G>T (n.*99G>T) c.26432G>T (p.Cys8811Phe) c.26420G>T (p.Cys8807Phe) c.26270G>T (p.Cys8757Phe) c.24710G>T (p.Cys8237Phe) c.24203G>T (p.Cys8068Phe) c.19670G>T (p.Cys6557Phe) c.26408G>T (p.Cys8803Phe) c.26357G>T (p.Cys8786Phe) c.26321G>T (p.Cys8774Phe) c.26168G>T (p.Cys8723Phe) | |
6 | g.152122542C= | CA1673188962 | ESR1,SYNE1 | c.2822G= (p.Cys941=) c.26288G= (p.Cys8763=) c.26144G= (p.Cys8715=) c.1631G= c.2006G= c.1873G= c.2138G= (n.2138G=) c.25073G= (p.Cys8358=) n.3036G= c.5064G= (n.5064G=) n.9980G= c.4167G= (n.4167G=) n.9872G= c.851-2724C= (n.851-2724C=) n.2902G= n.6925G= c.2753G= (p.Cys918=) c.26435G= (p.Cys8812=) c.26423G= (p.Cys8808=) c.26414G= (p.Cys8805=) c.26393G= (p.Cys8798=) c.26384G= (p.Cys8795=) c.26378G= (p.Cys8793=) c.26366G= (p.Cys8789=) c.26363G= (p.Cys8788=) c.26324G= (p.Cys8775=) c.26309G= (p.Cys8770=) c.26294G= (p.Cys8765=) c.26282G= (p.Cys8761=) c.26279G= (p.Cys8760=) c.26276G= (p.Cys8759=) c.*99G= (n.*99G=) c.26432G= (p.Cys8811=) c.26420G= (p.Cys8807=) c.26270G= (p.Cys8757=) c.24710G= (p.Cys8237=) c.24203G= (p.Cys8068=) c.19670G= (p.Cys6557=) c.26408G= (p.Cys8803=) c.26357G= (p.Cys8786=) c.26321G= (p.Cys8774=) c.26168G= (p.Cys8723=) | |
6 | g.152122542C>G | CA366088822 | ESR1,SYNE1 | c.2822G>C (p.Cys941Ser) c.26288G>C (p.Cys8763Ser) c.26144G>C (p.Cys8715Ser) c.1631G>C c.2006G>C c.1873G>C c.2138G>C (n.2138G>C) c.25073G>C (p.Cys8358Ser) n.3036G>C c.5064G>C (n.5064G>C) n.9980G>C c.4167G>C (n.4167G>C) n.9872G>C c.851-2724C>G (n.851-2724C>G) n.2902G>C n.6925G>C c.2753G>C (p.Cys918Ser) c.26435G>C (p.Cys8812Ser) c.26423G>C (p.Cys8808Ser) c.26414G>C (p.Cys8805Ser) c.26393G>C (p.Cys8798Ser) c.26384G>C (p.Cys8795Ser) c.26378G>C (p.Cys8793Ser) c.26366G>C (p.Cys8789Ser) c.26363G>C (p.Cys8788Ser) c.26324G>C (p.Cys8775Ser) c.26309G>C (p.Cys8770Ser) c.26294G>C (p.Cys8765Ser) c.26282G>C (p.Cys8761Ser) c.26279G>C (p.Cys8760Ser) c.26276G>C (p.Cys8759Ser) c.*99G>C (n.*99G>C) c.26432G>C (p.Cys8811Ser) c.26420G>C (p.Cys8807Ser) c.26270G>C (p.Cys8757Ser) c.24710G>C (p.Cys8237Ser) c.24203G>C (p.Cys8068Ser) c.19670G>C (p.Cys6557Ser) c.26408G>C (p.Cys8803Ser) c.26357G>C (p.Cys8786Ser) c.26321G>C (p.Cys8774Ser) c.26168G>C (p.Cys8723Ser) | |
6 | g.152122542C>T | CA4052592 | ESR1,SYNE1 | c.2822G>A (p.Cys941Tyr) c.26288G>A (p.Cys8763Tyr) c.26144G>A (p.Cys8715Tyr) c.1631G>A c.2006G>A c.1873G>A c.2138G>A (n.2138G>A) c.25073G>A (p.Cys8358Tyr) n.3036G>A c.5064G>A (n.5064G>A) n.9980G>A c.4167G>A (n.4167G>A) n.9872G>A c.851-2724C>T (n.851-2724C>T) n.2902G>A n.6925G>A c.2753G>A (p.Cys918Tyr) c.26435G>A (p.Cys8812Tyr) c.26423G>A (p.Cys8808Tyr) c.26414G>A (p.Cys8805Tyr) c.26393G>A (p.Cys8798Tyr) c.26384G>A (p.Cys8795Tyr) c.26378G>A (p.Cys8793Tyr) c.26366G>A (p.Cys8789Tyr) c.26363G>A (p.Cys8788Tyr) c.26324G>A (p.Cys8775Tyr) c.26309G>A (p.Cys8770Tyr) c.26294G>A (p.Cys8765Tyr) c.26282G>A (p.Cys8761Tyr) c.26279G>A (p.Cys8760Tyr) c.26276G>A (p.Cys8759Tyr) c.*99G>A (n.*99G>A) c.26432G>A (p.Cys8811Tyr) c.26420G>A (p.Cys8807Tyr) c.26270G>A (p.Cys8757Tyr) c.24710G>A (p.Cys8237Tyr) c.24203G>A (p.Cys8068Tyr) c.19670G>A (p.Cys6557Tyr) c.26408G>A (p.Cys8803Tyr) c.26357G>A (p.Cys8786Tyr) c.26321G>A (p.Cys8774Tyr) c.26168G>A (p.Cys8723Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122543A>C | CA366088824 | ESR1,SYNE1 | c.2821T>G (p.Cys941Gly) c.26287T>G (p.Cys8763Gly) c.26143T>G (p.Cys8715Gly) c.1630T>G c.2005T>G c.1872T>G c.2137T>G (n.2137T>G) c.25072T>G (p.Cys8358Gly) n.3035T>G c.5063T>G (n.5063T>G) n.9979T>G c.4166T>G (n.4166T>G) n.9871T>G c.851-2723A>C (n.851-2723A>C) n.2901T>G n.6924T>G c.2752T>G (p.Cys918Gly) c.26434T>G (p.Cys8812Gly) c.26422T>G (p.Cys8808Gly) c.26413T>G (p.Cys8805Gly) c.26392T>G (p.Cys8798Gly) c.26383T>G (p.Cys8795Gly) c.26377T>G (p.Cys8793Gly) c.26365T>G (p.Cys8789Gly) c.26362T>G (p.Cys8788Gly) c.26323T>G (p.Cys8775Gly) c.26308T>G (p.Cys8770Gly) c.26293T>G (p.Cys8765Gly) c.26281T>G (p.Cys8761Gly) c.26278T>G (p.Cys8760Gly) c.26275T>G (p.Cys8759Gly) c.*98T>G (n.*98T>G) c.26431T>G (p.Cys8811Gly) c.26419T>G (p.Cys8807Gly) c.26269T>G (p.Cys8757Gly) c.24709T>G (p.Cys8237Gly) c.24202T>G (p.Cys8068Gly) c.19669T>G (p.Cys6557Gly) c.26407T>G (p.Cys8803Gly) c.26356T>G (p.Cys8786Gly) c.26320T>G (p.Cys8774Gly) c.26167T>G (p.Cys8723Gly) | |
6 | g.152122543A>G | CA366088828 | ESR1,SYNE1 | c.2821T>C (p.Cys941Arg) c.26287T>C (p.Cys8763Arg) c.26143T>C (p.Cys8715Arg) c.1630T>C c.2005T>C c.1872T>C c.2137T>C (n.2137T>C) c.25072T>C (p.Cys8358Arg) n.3035T>C c.5063T>C (n.5063T>C) n.9979T>C c.4166T>C (n.4166T>C) n.9871T>C c.851-2723A>G (n.851-2723A>G) n.2901T>C n.6924T>C c.2752T>C (p.Cys918Arg) c.26434T>C (p.Cys8812Arg) c.26422T>C (p.Cys8808Arg) c.26413T>C (p.Cys8805Arg) c.26392T>C (p.Cys8798Arg) c.26383T>C (p.Cys8795Arg) c.26377T>C (p.Cys8793Arg) c.26365T>C (p.Cys8789Arg) c.26362T>C (p.Cys8788Arg) c.26323T>C (p.Cys8775Arg) c.26308T>C (p.Cys8770Arg) c.26293T>C (p.Cys8765Arg) c.26281T>C (p.Cys8761Arg) c.26278T>C (p.Cys8760Arg) c.26275T>C (p.Cys8759Arg) c.*98T>C (n.*98T>C) c.26431T>C (p.Cys8811Arg) c.26419T>C (p.Cys8807Arg) c.26269T>C (p.Cys8757Arg) c.24709T>C (p.Cys8237Arg) c.24202T>C (p.Cys8068Arg) c.19669T>C (p.Cys6557Arg) c.26407T>C (p.Cys8803Arg) c.26356T>C (p.Cys8786Arg) c.26320T>C (p.Cys8774Arg) c.26167T>C (p.Cys8723Arg) | |
6 | g.152122543A>T | CA366088827 | ESR1,SYNE1 | c.2821T>A (p.Cys941Ser) c.26287T>A (p.Cys8763Ser) c.26143T>A (p.Cys8715Ser) c.1630T>A c.2005T>A c.1872T>A c.2137T>A (n.2137T>A) c.25072T>A (p.Cys8358Ser) n.3035T>A c.5063T>A (n.5063T>A) n.9979T>A c.4166T>A (n.4166T>A) n.9871T>A c.851-2723A>T (n.851-2723A>T) n.2901T>A n.6924T>A c.2752T>A (p.Cys918Ser) c.26434T>A (p.Cys8812Ser) c.26422T>A (p.Cys8808Ser) c.26413T>A (p.Cys8805Ser) c.26392T>A (p.Cys8798Ser) c.26383T>A (p.Cys8795Ser) c.26377T>A (p.Cys8793Ser) c.26365T>A (p.Cys8789Ser) c.26362T>A (p.Cys8788Ser) c.26323T>A (p.Cys8775Ser) c.26308T>A (p.Cys8770Ser) c.26293T>A (p.Cys8765Ser) c.26281T>A (p.Cys8761Ser) c.26278T>A (p.Cys8760Ser) c.26275T>A (p.Cys8759Ser) c.*98T>A (n.*98T>A) c.26431T>A (p.Cys8811Ser) c.26419T>A (p.Cys8807Ser) c.26269T>A (p.Cys8757Ser) c.24709T>A (p.Cys8237Ser) c.24202T>A (p.Cys8068Ser) c.19669T>A (p.Cys6557Ser) c.26407T>A (p.Cys8803Ser) c.26356T>A (p.Cys8786Ser) c.26320T>A (p.Cys8774Ser) c.26167T>A (p.Cys8723Ser) | |
6 | g.152122544G>A | CA452969671 | ESR1,SYNE1 | c.2820C>T (p.Ala940=) c.26286C>T (p.Ala8762=) c.26142C>T (p.Ala8714=) c.1629C>T c.2004C>T c.1871C>T c.2136C>T (n.2136C>T) c.25071C>T (p.Ala8357=) n.3034C>T c.5062C>T (n.5062C>T) n.9978C>T c.4165C>T (n.4165C>T) n.9870C>T c.851-2722G>A (n.851-2722G>A) n.2900C>T n.6923C>T c.2751C>T (p.Ala917=) c.26433C>T (p.Ala8811=) c.26421C>T (p.Ala8807=) c.26412C>T (p.Ala8804=) c.26391C>T (p.Ala8797=) c.26382C>T (p.Ala8794=) c.26376C>T (p.Ala8792=) c.26364C>T (p.Ala8788=) c.26361C>T (p.Ala8787=) c.26322C>T (p.Ala8774=) c.26307C>T (p.Ala8769=) c.26292C>T (p.Ala8764=) c.26280C>T (p.Ala8760=) c.26277C>T (p.Ala8759=) c.26274C>T (p.Ala8758=) c.*97C>T (n.*97C>T) c.26430C>T (p.Ala8810=) c.26418C>T (p.Ala8806=) c.26268C>T (p.Ala8756=) c.24708C>T (p.Ala8236=) c.24201C>T (p.Ala8067=) c.19668C>T (p.Ala6556=) c.26406C>T (p.Ala8802=) c.26355C>T (p.Ala8785=) c.26319C>T (p.Ala8773=) c.26166C>T (p.Ala8722=) | |
6 | g.152122544G>C | CA452969674 | ESR1,SYNE1 | c.2820C>G (p.Ala940=) c.26286C>G (p.Ala8762=) c.26142C>G (p.Ala8714=) c.1629C>G c.2004C>G c.1871C>G c.2136C>G (n.2136C>G) c.25071C>G (p.Ala8357=) n.3034C>G c.5062C>G (n.5062C>G) n.9978C>G c.4165C>G (n.4165C>G) n.9870C>G c.851-2722G>C (n.851-2722G>C) n.2900C>G n.6923C>G c.2751C>G (p.Ala917=) c.26433C>G (p.Ala8811=) c.26421C>G (p.Ala8807=) c.26412C>G (p.Ala8804=) c.26391C>G (p.Ala8797=) c.26382C>G (p.Ala8794=) c.26376C>G (p.Ala8792=) c.26364C>G (p.Ala8788=) c.26361C>G (p.Ala8787=) c.26322C>G (p.Ala8774=) c.26307C>G (p.Ala8769=) c.26292C>G (p.Ala8764=) c.26280C>G (p.Ala8760=) c.26277C>G (p.Ala8759=) c.26274C>G (p.Ala8758=) c.*97C>G (n.*97C>G) c.26430C>G (p.Ala8810=) c.26418C>G (p.Ala8806=) c.26268C>G (p.Ala8756=) c.24708C>G (p.Ala8236=) c.24201C>G (p.Ala8067=) c.19668C>G (p.Ala6556=) c.26406C>G (p.Ala8802=) c.26355C>G (p.Ala8785=) c.26319C>G (p.Ala8773=) c.26166C>G (p.Ala8722=) | |
6 | g.152122544G>T | CA452969673 | ESR1,SYNE1 | c.2820C>A (p.Ala940=) c.26286C>A (p.Ala8762=) c.26142C>A (p.Ala8714=) c.1629C>A c.2004C>A c.1871C>A c.2136C>A (n.2136C>A) c.25071C>A (p.Ala8357=) n.3034C>A c.5062C>A (n.5062C>A) n.9978C>A c.4165C>A (n.4165C>A) n.9870C>A c.851-2722G>T (n.851-2722G>T) n.2900C>A n.6923C>A c.2751C>A (p.Ala917=) c.26433C>A (p.Ala8811=) c.26421C>A (p.Ala8807=) c.26412C>A (p.Ala8804=) c.26391C>A (p.Ala8797=) c.26382C>A (p.Ala8794=) c.26376C>A (p.Ala8792=) c.26364C>A (p.Ala8788=) c.26361C>A (p.Ala8787=) c.26322C>A (p.Ala8774=) c.26307C>A (p.Ala8769=) c.26292C>A (p.Ala8764=) c.26280C>A (p.Ala8760=) c.26277C>A (p.Ala8759=) c.26274C>A (p.Ala8758=) c.*97C>A (n.*97C>A) c.26430C>A (p.Ala8810=) c.26418C>A (p.Ala8806=) c.26268C>A (p.Ala8756=) c.24708C>A (p.Ala8236=) c.24201C>A (p.Ala8067=) c.19668C>A (p.Ala6556=) c.26406C>A (p.Ala8802=) c.26355C>A (p.Ala8785=) c.26319C>A (p.Ala8773=) c.26166C>A (p.Ala8722=) | |
6 | g.152122545G>A | CA150189518 | ESR1,SYNE1 | c.2819C>T (p.Ala940Val) c.26285C>T (p.Ala8762Val) c.26141C>T (p.Ala8714Val) c.1628C>T c.2003C>T c.1870C>T c.2135C>T (n.2135C>T) c.25070C>T (p.Ala8357Val) n.3033C>T c.5061C>T (n.5061C>T) n.9977C>T c.4164C>T (n.4164C>T) n.9869C>T c.851-2721G>A (n.851-2721G>A) n.2899C>T n.6922C>T c.2750C>T (p.Ala917Val) c.26432C>T (p.Ala8811Val) c.26420C>T (p.Ala8807Val) c.26411C>T (p.Ala8804Val) c.26390C>T (p.Ala8797Val) c.26381C>T (p.Ala8794Val) c.26375C>T (p.Ala8792Val) c.26363C>T (p.Ala8788Val) c.26360C>T (p.Ala8787Val) c.26321C>T (p.Ala8774Val) c.26306C>T (p.Ala8769Val) c.26291C>T (p.Ala8764Val) c.26279C>T (p.Ala8760Val) c.26276C>T (p.Ala8759Val) c.26273C>T (p.Ala8758Val) c.*96C>T (n.*96C>T) c.26429C>T (p.Ala8810Val) c.26417C>T (p.Ala8806Val) c.26267C>T (p.Ala8756Val) c.24707C>T (p.Ala8236Val) c.24200C>T (p.Ala8067Val) c.19667C>T (p.Ala6556Val) c.26405C>T (p.Ala8802Val) c.26354C>T (p.Ala8785Val) c.26318C>T (p.Ala8773Val) c.26165C>T (p.Ala8722Val) | ClinVar dbSNP |
6 | g.152122545G>C | CA366088831 | ESR1,SYNE1 | c.2819C>G (p.Ala940Gly) c.26285C>G (p.Ala8762Gly) c.26141C>G (p.Ala8714Gly) c.1628C>G c.2003C>G c.1870C>G c.2135C>G (n.2135C>G) c.25070C>G (p.Ala8357Gly) n.3033C>G c.5061C>G (n.5061C>G) n.9977C>G c.4164C>G (n.4164C>G) n.9869C>G c.851-2721G>C (n.851-2721G>C) n.2899C>G n.6922C>G c.2750C>G (p.Ala917Gly) c.26432C>G (p.Ala8811Gly) c.26420C>G (p.Ala8807Gly) c.26411C>G (p.Ala8804Gly) c.26390C>G (p.Ala8797Gly) c.26381C>G (p.Ala8794Gly) c.26375C>G (p.Ala8792Gly) c.26363C>G (p.Ala8788Gly) c.26360C>G (p.Ala8787Gly) c.26321C>G (p.Ala8774Gly) c.26306C>G (p.Ala8769Gly) c.26291C>G (p.Ala8764Gly) c.26279C>G (p.Ala8760Gly) c.26276C>G (p.Ala8759Gly) c.26273C>G (p.Ala8758Gly) c.*96C>G (n.*96C>G) c.26429C>G (p.Ala8810Gly) c.26417C>G (p.Ala8806Gly) c.26267C>G (p.Ala8756Gly) c.24707C>G (p.Ala8236Gly) c.24200C>G (p.Ala8067Gly) c.19667C>G (p.Ala6556Gly) c.26405C>G (p.Ala8802Gly) c.26354C>G (p.Ala8785Gly) c.26318C>G (p.Ala8773Gly) c.26165C>G (p.Ala8722Gly) | |
6 | g.152122545G= | CA1673188966 | ESR1,SYNE1 | c.2819C= (p.Ala940=) c.26285C= (p.Ala8762=) c.26141C= (p.Ala8714=) c.1628C= c.2003C= c.1870C= c.2135C= (n.2135C=) c.25070C= (p.Ala8357=) n.3033C= c.5061C= (n.5061C=) n.9977C= c.4164C= (n.4164C=) n.9869C= c.851-2721G= (n.851-2721G=) n.2899C= n.6922C= c.2750C= (p.Ala917=) c.26432C= (p.Ala8811=) c.26420C= (p.Ala8807=) c.26411C= (p.Ala8804=) c.26390C= (p.Ala8797=) c.26381C= (p.Ala8794=) c.26375C= (p.Ala8792=) c.26363C= (p.Ala8788=) c.26360C= (p.Ala8787=) c.26321C= (p.Ala8774=) c.26306C= (p.Ala8769=) c.26291C= (p.Ala8764=) c.26279C= (p.Ala8760=) c.26276C= (p.Ala8759=) c.26273C= (p.Ala8758=) c.*96C= (n.*96C=) c.26429C= (p.Ala8810=) c.26417C= (p.Ala8806=) c.26267C= (p.Ala8756=) c.24707C= (p.Ala8236=) c.24200C= (p.Ala8067=) c.19667C= (p.Ala6556=) c.26405C= (p.Ala8802=) c.26354C= (p.Ala8785=) c.26318C= (p.Ala8773=) c.26165C= (p.Ala8722=) | |
6 | g.152122545G>T | CA366088833 | ESR1,SYNE1 | c.2819C>A (p.Ala940Asp) c.26285C>A (p.Ala8762Asp) c.26141C>A (p.Ala8714Asp) c.1628C>A c.2003C>A c.1870C>A c.2135C>A (n.2135C>A) c.25070C>A (p.Ala8357Asp) n.3033C>A c.5061C>A (n.5061C>A) n.9977C>A c.4164C>A (n.4164C>A) n.9869C>A c.851-2721G>T (n.851-2721G>T) n.2899C>A n.6922C>A c.2750C>A (p.Ala917Asp) c.26432C>A (p.Ala8811Asp) c.26420C>A (p.Ala8807Asp) c.26411C>A (p.Ala8804Asp) c.26390C>A (p.Ala8797Asp) c.26381C>A (p.Ala8794Asp) c.26375C>A (p.Ala8792Asp) c.26363C>A (p.Ala8788Asp) c.26360C>A (p.Ala8787Asp) c.26321C>A (p.Ala8774Asp) c.26306C>A (p.Ala8769Asp) c.26291C>A (p.Ala8764Asp) c.26279C>A (p.Ala8760Asp) c.26276C>A (p.Ala8759Asp) c.26273C>A (p.Ala8758Asp) c.*96C>A (n.*96C>A) c.26429C>A (p.Ala8810Asp) c.26417C>A (p.Ala8806Asp) c.26267C>A (p.Ala8756Asp) c.24707C>A (p.Ala8236Asp) c.24200C>A (p.Ala8067Asp) c.19667C>A (p.Ala6556Asp) c.26405C>A (p.Ala8802Asp) c.26354C>A (p.Ala8785Asp) c.26318C>A (p.Ala8773Asp) c.26165C>A (p.Ala8722Asp) | |
6 | g.152122546C>A | CA366088834 | ESR1,SYNE1 | c.2818G>T (p.Ala940Ser) c.26284G>T (p.Ala8762Ser) c.26140G>T (p.Ala8714Ser) c.1627G>T c.2002G>T c.1869G>T c.2134G>T (n.2134G>T) c.25069G>T (p.Ala8357Ser) n.3032G>T c.5060G>T (n.5060G>T) n.9976G>T c.4163G>T (n.4163G>T) n.9868G>T c.851-2720C>A (n.851-2720C>A) n.2898G>T n.6921G>T c.2749G>T (p.Ala917Ser) c.26431G>T (p.Ala8811Ser) c.26419G>T (p.Ala8807Ser) c.26410G>T (p.Ala8804Ser) c.26389G>T (p.Ala8797Ser) c.26380G>T (p.Ala8794Ser) c.26374G>T (p.Ala8792Ser) c.26362G>T (p.Ala8788Ser) c.26359G>T (p.Ala8787Ser) c.26320G>T (p.Ala8774Ser) c.26305G>T (p.Ala8769Ser) c.26290G>T (p.Ala8764Ser) c.26278G>T (p.Ala8760Ser) c.26275G>T (p.Ala8759Ser) c.26272G>T (p.Ala8758Ser) c.*95G>T (n.*95G>T) c.26428G>T (p.Ala8810Ser) c.26416G>T (p.Ala8806Ser) c.26266G>T (p.Ala8756Ser) c.24706G>T (p.Ala8236Ser) c.24199G>T (p.Ala8067Ser) c.19666G>T (p.Ala6556Ser) c.26404G>T (p.Ala8802Ser) c.26353G>T (p.Ala8785Ser) c.26317G>T (p.Ala8773Ser) c.26164G>T (p.Ala8722Ser) | |
6 | g.152122546C>G | CA366088836 | ESR1,SYNE1 | c.2818G>C (p.Ala940Pro) c.26284G>C (p.Ala8762Pro) c.26140G>C (p.Ala8714Pro) c.1627G>C c.2002G>C c.1869G>C c.2134G>C (n.2134G>C) c.25069G>C (p.Ala8357Pro) n.3032G>C c.5060G>C (n.5060G>C) n.9976G>C c.4163G>C (n.4163G>C) n.9868G>C c.851-2720C>G (n.851-2720C>G) n.2898G>C n.6921G>C c.2749G>C (p.Ala917Pro) c.26431G>C (p.Ala8811Pro) c.26419G>C (p.Ala8807Pro) c.26410G>C (p.Ala8804Pro) c.26389G>C (p.Ala8797Pro) c.26380G>C (p.Ala8794Pro) c.26374G>C (p.Ala8792Pro) c.26362G>C (p.Ala8788Pro) c.26359G>C (p.Ala8787Pro) c.26320G>C (p.Ala8774Pro) c.26305G>C (p.Ala8769Pro) c.26290G>C (p.Ala8764Pro) c.26278G>C (p.Ala8760Pro) c.26275G>C (p.Ala8759Pro) c.26272G>C (p.Ala8758Pro) c.*95G>C (n.*95G>C) c.26428G>C (p.Ala8810Pro) c.26416G>C (p.Ala8806Pro) c.26266G>C (p.Ala8756Pro) c.24706G>C (p.Ala8236Pro) c.24199G>C (p.Ala8067Pro) c.19666G>C (p.Ala6556Pro) c.26404G>C (p.Ala8802Pro) c.26353G>C (p.Ala8785Pro) c.26317G>C (p.Ala8773Pro) c.26164G>C (p.Ala8722Pro) | gnomAD v4 |
6 | g.152122546C>T | CA366088837 | ESR1,SYNE1 | c.2818G>A (p.Ala940Thr) c.26284G>A (p.Ala8762Thr) c.26140G>A (p.Ala8714Thr) c.1627G>A c.2002G>A c.1869G>A c.2134G>A (n.2134G>A) c.25069G>A (p.Ala8357Thr) n.3032G>A c.5060G>A (n.5060G>A) n.9976G>A c.4163G>A (n.4163G>A) n.9868G>A c.851-2720C>T (n.851-2720C>T) n.2898G>A n.6921G>A c.2749G>A (p.Ala917Thr) c.26431G>A (p.Ala8811Thr) c.26419G>A (p.Ala8807Thr) c.26410G>A (p.Ala8804Thr) c.26389G>A (p.Ala8797Thr) c.26380G>A (p.Ala8794Thr) c.26374G>A (p.Ala8792Thr) c.26362G>A (p.Ala8788Thr) c.26359G>A (p.Ala8787Thr) c.26320G>A (p.Ala8774Thr) c.26305G>A (p.Ala8769Thr) c.26290G>A (p.Ala8764Thr) c.26278G>A (p.Ala8760Thr) c.26275G>A (p.Ala8759Thr) c.26272G>A (p.Ala8758Thr) c.*95G>A (n.*95G>A) c.26428G>A (p.Ala8810Thr) c.26416G>A (p.Ala8806Thr) c.26266G>A (p.Ala8756Thr) c.24706G>A (p.Ala8236Thr) c.24199G>A (p.Ala8067Thr) c.19666G>A (p.Ala6556Thr) c.26404G>A (p.Ala8802Thr) c.26353G>A (p.Ala8785Thr) c.26317G>A (p.Ala8773Thr) c.26164G>A (p.Ala8722Thr) | |
6 | g.152122547A>C | CA452969683 | ESR1,SYNE1 | c.2817T>G (p.Leu939=) c.26283T>G (p.Leu8761=) c.26139T>G (p.Leu8713=) c.1626T>G c.2001T>G c.1868T>G c.2133T>G (n.2133T>G) c.25068T>G (p.Leu8356=) n.3031T>G c.5059T>G (n.5059T>G) n.9975T>G c.4162T>G (n.4162T>G) n.9867T>G c.851-2719A>C (n.851-2719A>C) n.2897T>G n.6920T>G c.2748T>G (p.Leu916=) c.26430T>G (p.Leu8810=) c.26418T>G (p.Leu8806=) c.26409T>G (p.Leu8803=) c.26388T>G (p.Leu8796=) c.26379T>G (p.Leu8793=) c.26373T>G (p.Leu8791=) c.26361T>G (p.Leu8787=) c.26358T>G (p.Leu8786=) c.26319T>G (p.Leu8773=) c.26304T>G (p.Leu8768=) c.26289T>G (p.Leu8763=) c.26277T>G (p.Leu8759=) c.26274T>G (p.Leu8758=) c.26271T>G (p.Leu8757=) c.*94T>G (n.*94T>G) c.26427T>G (p.Leu8809=) c.26415T>G (p.Leu8805=) c.26265T>G (p.Leu8755=) c.24705T>G (p.Leu8235=) c.24198T>G (p.Leu8066=) c.19665T>G (p.Leu6555=) c.26403T>G (p.Leu8801=) c.26352T>G (p.Leu8784=) c.26316T>G (p.Leu8772=) c.26163T>G (p.Leu8721=) | |
6 | g.152122547A>G | CA452969682 | ESR1,SYNE1 | c.2817T>C (p.Leu939=) c.26283T>C (p.Leu8761=) c.26139T>C (p.Leu8713=) c.1626T>C c.2001T>C c.1868T>C c.2133T>C (n.2133T>C) c.25068T>C (p.Leu8356=) n.3031T>C c.5059T>C (n.5059T>C) n.9975T>C c.4162T>C (n.4162T>C) n.9867T>C c.851-2719A>G (n.851-2719A>G) n.2897T>C n.6920T>C c.2748T>C (p.Leu916=) c.26430T>C (p.Leu8810=) c.26418T>C (p.Leu8806=) c.26409T>C (p.Leu8803=) c.26388T>C (p.Leu8796=) c.26379T>C (p.Leu8793=) c.26373T>C (p.Leu8791=) c.26361T>C (p.Leu8787=) c.26358T>C (p.Leu8786=) c.26319T>C (p.Leu8773=) c.26304T>C (p.Leu8768=) c.26289T>C (p.Leu8763=) c.26277T>C (p.Leu8759=) c.26274T>C (p.Leu8758=) c.26271T>C (p.Leu8757=) c.*94T>C (n.*94T>C) c.26427T>C (p.Leu8809=) c.26415T>C (p.Leu8805=) c.26265T>C (p.Leu8755=) c.24705T>C (p.Leu8235=) c.24198T>C (p.Leu8066=) c.19665T>C (p.Leu6555=) c.26403T>C (p.Leu8801=) c.26352T>C (p.Leu8784=) c.26316T>C (p.Leu8772=) c.26163T>C (p.Leu8721=) | |
6 | g.152122547A>T | CA452969681 | ESR1,SYNE1 | c.2817T>A (p.Leu939=) c.26283T>A (p.Leu8761=) c.26139T>A (p.Leu8713=) c.1626T>A c.2001T>A c.1868T>A c.2133T>A (n.2133T>A) c.25068T>A (p.Leu8356=) n.3031T>A c.5059T>A (n.5059T>A) n.9975T>A c.4162T>A (n.4162T>A) n.9867T>A c.851-2719A>T (n.851-2719A>T) n.2897T>A n.6920T>A c.2748T>A (p.Leu916=) c.26430T>A (p.Leu8810=) c.26418T>A (p.Leu8806=) c.26409T>A (p.Leu8803=) c.26388T>A (p.Leu8796=) c.26379T>A (p.Leu8793=) c.26373T>A (p.Leu8791=) c.26361T>A (p.Leu8787=) c.26358T>A (p.Leu8786=) c.26319T>A (p.Leu8773=) c.26304T>A (p.Leu8768=) c.26289T>A (p.Leu8763=) c.26277T>A (p.Leu8759=) c.26274T>A (p.Leu8758=) c.26271T>A (p.Leu8757=) c.*94T>A (n.*94T>A) c.26427T>A (p.Leu8809=) c.26415T>A (p.Leu8805=) c.26265T>A (p.Leu8755=) c.24705T>A (p.Leu8235=) c.24198T>A (p.Leu8066=) c.19665T>A (p.Leu6555=) c.26403T>A (p.Leu8801=) c.26352T>A (p.Leu8784=) c.26316T>A (p.Leu8772=) c.26163T>A (p.Leu8721=) | |
6 | g.152122548A>C | CA366088838 | ESR1,SYNE1 | c.2816T>G (p.Leu939Arg) c.26282T>G (p.Leu8761Arg) c.26138T>G (p.Leu8713Arg) c.1625T>G c.2000T>G c.1867T>G c.2132T>G (n.2132T>G) c.25067T>G (p.Leu8356Arg) n.3030T>G c.5058T>G (n.5058T>G) n.9974T>G c.4161T>G (n.4161T>G) n.9866T>G c.851-2718A>C (n.851-2718A>C) n.2896T>G n.6919T>G c.2747T>G (p.Leu916Arg) c.26429T>G (p.Leu8810Arg) c.26417T>G (p.Leu8806Arg) c.26408T>G (p.Leu8803Arg) c.26387T>G (p.Leu8796Arg) c.26378T>G (p.Leu8793Arg) c.26372T>G (p.Leu8791Arg) c.26360T>G (p.Leu8787Arg) c.26357T>G (p.Leu8786Arg) c.26318T>G (p.Leu8773Arg) c.26303T>G (p.Leu8768Arg) c.26288T>G (p.Leu8763Arg) c.26276T>G (p.Leu8759Arg) c.26273T>G (p.Leu8758Arg) c.26270T>G (p.Leu8757Arg) c.*93T>G (n.*93T>G) c.26426T>G (p.Leu8809Arg) c.26414T>G (p.Leu8805Arg) c.26264T>G (p.Leu8755Arg) c.24704T>G (p.Leu8235Arg) c.24197T>G (p.Leu8066Arg) c.19664T>G (p.Leu6555Arg) c.26402T>G (p.Leu8801Arg) c.26351T>G (p.Leu8784Arg) c.26315T>G (p.Leu8772Arg) c.26162T>G (p.Leu8721Arg) | |
6 | g.152122548A>G | CA366088840 | ESR1,SYNE1 | c.2816T>C (p.Leu939Pro) c.26282T>C (p.Leu8761Pro) c.26138T>C (p.Leu8713Pro) c.1625T>C c.2000T>C c.1867T>C c.2132T>C (n.2132T>C) c.25067T>C (p.Leu8356Pro) n.3030T>C c.5058T>C (n.5058T>C) n.9974T>C c.4161T>C (n.4161T>C) n.9866T>C c.851-2718A>G (n.851-2718A>G) n.2896T>C n.6919T>C c.2747T>C (p.Leu916Pro) c.26429T>C (p.Leu8810Pro) c.26417T>C (p.Leu8806Pro) c.26408T>C (p.Leu8803Pro) c.26387T>C (p.Leu8796Pro) c.26378T>C (p.Leu8793Pro) c.26372T>C (p.Leu8791Pro) c.26360T>C (p.Leu8787Pro) c.26357T>C (p.Leu8786Pro) c.26318T>C (p.Leu8773Pro) c.26303T>C (p.Leu8768Pro) c.26288T>C (p.Leu8763Pro) c.26276T>C (p.Leu8759Pro) c.26273T>C (p.Leu8758Pro) c.26270T>C (p.Leu8757Pro) c.*93T>C (n.*93T>C) c.26426T>C (p.Leu8809Pro) c.26414T>C (p.Leu8805Pro) c.26264T>C (p.Leu8755Pro) c.24704T>C (p.Leu8235Pro) c.24197T>C (p.Leu8066Pro) c.19664T>C (p.Leu6555Pro) c.26402T>C (p.Leu8801Pro) c.26351T>C (p.Leu8784Pro) c.26315T>C (p.Leu8772Pro) c.26162T>C (p.Leu8721Pro) | |
6 | g.152122548A>T | CA366088842 | ESR1,SYNE1 | c.2816T>A (p.Leu939His) c.26282T>A (p.Leu8761His) c.26138T>A (p.Leu8713His) c.1625T>A c.2000T>A c.1867T>A c.2132T>A (n.2132T>A) c.25067T>A (p.Leu8356His) n.3030T>A c.5058T>A (n.5058T>A) n.9974T>A c.4161T>A (n.4161T>A) n.9866T>A c.851-2718A>T (n.851-2718A>T) n.2896T>A n.6919T>A c.2747T>A (p.Leu916His) c.26429T>A (p.Leu8810His) c.26417T>A (p.Leu8806His) c.26408T>A (p.Leu8803His) c.26387T>A (p.Leu8796His) c.26378T>A (p.Leu8793His) c.26372T>A (p.Leu8791His) c.26360T>A (p.Leu8787His) c.26357T>A (p.Leu8786His) c.26318T>A (p.Leu8773His) c.26303T>A (p.Leu8768His) c.26288T>A (p.Leu8763His) c.26276T>A (p.Leu8759His) c.26273T>A (p.Leu8758His) c.26270T>A (p.Leu8757His) c.*93T>A (n.*93T>A) c.26426T>A (p.Leu8809His) c.26414T>A (p.Leu8805His) c.26264T>A (p.Leu8755His) c.24704T>A (p.Leu8235His) c.24197T>A (p.Leu8066His) c.19664T>A (p.Leu6555His) c.26402T>A (p.Leu8801His) c.26351T>A (p.Leu8784His) c.26315T>A (p.Leu8772His) c.26162T>A (p.Leu8721His) | |
6 | g.152122549G>A | CA4052593 | ESR1,SYNE1 | c.2815C>T (p.Leu939Phe) c.26281C>T (p.Leu8761Phe) c.26137C>T (p.Leu8713Phe) c.1624C>T c.1999C>T c.1866C>T c.2131C>T (n.2131C>T) c.25066C>T (p.Leu8356Phe) n.3029C>T c.5057C>T (n.5057C>T) n.9973C>T c.4160C>T (n.4160C>T) n.9865C>T c.851-2717G>A (n.851-2717G>A) n.2895C>T n.6918C>T c.2746C>T (p.Leu916Phe) c.26428C>T (p.Leu8810Phe) c.26416C>T (p.Leu8806Phe) c.26407C>T (p.Leu8803Phe) c.26386C>T (p.Leu8796Phe) c.26377C>T (p.Leu8793Phe) c.26371C>T (p.Leu8791Phe) c.26359C>T (p.Leu8787Phe) c.26356C>T (p.Leu8786Phe) c.26317C>T (p.Leu8773Phe) c.26302C>T (p.Leu8768Phe) c.26287C>T (p.Leu8763Phe) c.26275C>T (p.Leu8759Phe) c.26272C>T (p.Leu8758Phe) c.26269C>T (p.Leu8757Phe) c.*92C>T (n.*92C>T) c.26425C>T (p.Leu8809Phe) c.26413C>T (p.Leu8805Phe) c.26263C>T (p.Leu8755Phe) c.24703C>T (p.Leu8235Phe) c.24196C>T (p.Leu8066Phe) c.19663C>T (p.Leu6555Phe) c.26401C>T (p.Leu8801Phe) c.26350C>T (p.Leu8784Phe) c.26314C>T (p.Leu8772Phe) c.26161C>T (p.Leu8721Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122549G>C | CA366088844 | ESR1,SYNE1 | c.2815C>G (p.Leu939Val) c.26281C>G (p.Leu8761Val) c.26137C>G (p.Leu8713Val) c.1624C>G c.1999C>G c.1866C>G c.2131C>G (n.2131C>G) c.25066C>G (p.Leu8356Val) n.3029C>G c.5057C>G (n.5057C>G) n.9973C>G c.4160C>G (n.4160C>G) n.9865C>G c.851-2717G>C (n.851-2717G>C) n.2895C>G n.6918C>G c.2746C>G (p.Leu916Val) c.26428C>G (p.Leu8810Val) c.26416C>G (p.Leu8806Val) c.26407C>G (p.Leu8803Val) c.26386C>G (p.Leu8796Val) c.26377C>G (p.Leu8793Val) c.26371C>G (p.Leu8791Val) c.26359C>G (p.Leu8787Val) c.26356C>G (p.Leu8786Val) c.26317C>G (p.Leu8773Val) c.26302C>G (p.Leu8768Val) c.26287C>G (p.Leu8763Val) c.26275C>G (p.Leu8759Val) c.26272C>G (p.Leu8758Val) c.26269C>G (p.Leu8757Val) c.*92C>G (n.*92C>G) c.26425C>G (p.Leu8809Val) c.26413C>G (p.Leu8805Val) c.26263C>G (p.Leu8755Val) c.24703C>G (p.Leu8235Val) c.24196C>G (p.Leu8066Val) c.19663C>G (p.Leu6555Val) c.26401C>G (p.Leu8801Val) c.26350C>G (p.Leu8784Val) c.26314C>G (p.Leu8772Val) c.26161C>G (p.Leu8721Val) | |
6 | g.152122549G= | CA1673188969 | ESR1,SYNE1 | c.2815C= (p.Leu939=) c.26281C= (p.Leu8761=) c.26137C= (p.Leu8713=) c.1624C= c.1999C= c.1866C= c.2131C= (n.2131C=) c.25066C= (p.Leu8356=) n.3029C= c.5057C= (n.5057C=) n.9973C= c.4160C= (n.4160C=) n.9865C= c.851-2717G= (n.851-2717G=) n.2895C= n.6918C= c.2746C= (p.Leu916=) c.26428C= (p.Leu8810=) c.26416C= (p.Leu8806=) c.26407C= (p.Leu8803=) c.26386C= (p.Leu8796=) c.26377C= (p.Leu8793=) c.26371C= (p.Leu8791=) c.26359C= (p.Leu8787=) c.26356C= (p.Leu8786=) c.26317C= (p.Leu8773=) c.26302C= (p.Leu8768=) c.26287C= (p.Leu8763=) c.26275C= (p.Leu8759=) c.26272C= (p.Leu8758=) c.26269C= (p.Leu8757=) c.*92C= (n.*92C=) c.26425C= (p.Leu8809=) c.26413C= (p.Leu8805=) c.26263C= (p.Leu8755=) c.24703C= (p.Leu8235=) c.24196C= (p.Leu8066=) c.19663C= (p.Leu6555=) c.26401C= (p.Leu8801=) c.26350C= (p.Leu8784=) c.26314C= (p.Leu8772=) c.26161C= (p.Leu8721=) | |
6 | g.152122549G>T | CA366088846 | ESR1,SYNE1 | c.2815C>A (p.Leu939Ile) c.26281C>A (p.Leu8761Ile) c.26137C>A (p.Leu8713Ile) c.1624C>A c.1999C>A c.1866C>A c.2131C>A (n.2131C>A) c.25066C>A (p.Leu8356Ile) n.3029C>A c.5057C>A (n.5057C>A) n.9973C>A c.4160C>A (n.4160C>A) n.9865C>A c.851-2717G>T (n.851-2717G>T) n.2895C>A n.6918C>A c.2746C>A (p.Leu916Ile) c.26428C>A (p.Leu8810Ile) c.26416C>A (p.Leu8806Ile) c.26407C>A (p.Leu8803Ile) c.26386C>A (p.Leu8796Ile) c.26377C>A (p.Leu8793Ile) c.26371C>A (p.Leu8791Ile) c.26359C>A (p.Leu8787Ile) c.26356C>A (p.Leu8786Ile) c.26317C>A (p.Leu8773Ile) c.26302C>A (p.Leu8768Ile) c.26287C>A (p.Leu8763Ile) c.26275C>A (p.Leu8759Ile) c.26272C>A (p.Leu8758Ile) c.26269C>A (p.Leu8757Ile) c.*92C>A (n.*92C>A) c.26425C>A (p.Leu8809Ile) c.26413C>A (p.Leu8805Ile) c.26263C>A (p.Leu8755Ile) c.24703C>A (p.Leu8235Ile) c.24196C>A (p.Leu8066Ile) c.19663C>A (p.Leu6555Ile) c.26401C>A (p.Leu8801Ile) c.26350C>A (p.Leu8784Ile) c.26314C>A (p.Leu8772Ile) c.26161C>A (p.Leu8721Ile) | |
6 | g.152122550C>A | CA452969687 | ESR1,SYNE1 | c.2814G>T (p.Gly938=) c.26280G>T (p.Gly8760=) c.26136G>T (p.Gly8712=) c.1623G>T c.1998G>T c.1865G>T c.2130G>T (n.2130G>T) c.25065G>T (p.Gly8355=) n.3028G>T c.5056G>T (n.5056G>T) n.9972G>T c.4159G>T (n.4159G>T) n.9864G>T c.851-2716C>A (n.851-2716C>A) n.2894G>T n.6917G>T c.2745G>T (p.Gly915=) c.26427G>T (p.Gly8809=) c.26415G>T (p.Gly8805=) c.26406G>T (p.Gly8802=) c.26385G>T (p.Gly8795=) c.26376G>T (p.Gly8792=) c.26370G>T (p.Gly8790=) c.26358G>T (p.Gly8786=) c.26355G>T (p.Gly8785=) c.26316G>T (p.Gly8772=) c.26301G>T (p.Gly8767=) c.26286G>T (p.Gly8762=) c.26274G>T (p.Gly8758=) c.26271G>T (p.Gly8757=) c.26268G>T (p.Gly8756=) c.*91G>T (n.*91G>T) c.26424G>T (p.Gly8808=) c.26412G>T (p.Gly8804=) c.26262G>T (p.Gly8754=) c.24702G>T (p.Gly8234=) c.24195G>T (p.Gly8065=) c.19662G>T (p.Gly6554=) c.26400G>T (p.Gly8800=) c.26349G>T (p.Gly8783=) c.26313G>T (p.Gly8771=) c.26160G>T (p.Gly8720=) | |
6 | g.152122550C>G | CA452969691 | ESR1,SYNE1 | c.2814G>C (p.Gly938=) c.26280G>C (p.Gly8760=) c.26136G>C (p.Gly8712=) c.1623G>C c.1998G>C c.1865G>C c.2130G>C (n.2130G>C) c.25065G>C (p.Gly8355=) n.3028G>C c.5056G>C (n.5056G>C) n.9972G>C c.4159G>C (n.4159G>C) n.9864G>C c.851-2716C>G (n.851-2716C>G) n.2894G>C n.6917G>C c.2745G>C (p.Gly915=) c.26427G>C (p.Gly8809=) c.26415G>C (p.Gly8805=) c.26406G>C (p.Gly8802=) c.26385G>C (p.Gly8795=) c.26376G>C (p.Gly8792=) c.26370G>C (p.Gly8790=) c.26358G>C (p.Gly8786=) c.26355G>C (p.Gly8785=) c.26316G>C (p.Gly8772=) c.26301G>C (p.Gly8767=) c.26286G>C (p.Gly8762=) c.26274G>C (p.Gly8758=) c.26271G>C (p.Gly8757=) c.26268G>C (p.Gly8756=) c.*91G>C (n.*91G>C) c.26424G>C (p.Gly8808=) c.26412G>C (p.Gly8804=) c.26262G>C (p.Gly8754=) c.24702G>C (p.Gly8234=) c.24195G>C (p.Gly8065=) c.19662G>C (p.Gly6554=) c.26400G>C (p.Gly8800=) c.26349G>C (p.Gly8783=) c.26313G>C (p.Gly8771=) c.26160G>C (p.Gly8720=) | |
6 | g.152122550C>T | CA452969689 | ESR1,SYNE1 | c.2814G>A (p.Gly938=) c.26280G>A (p.Gly8760=) c.26136G>A (p.Gly8712=) c.1623G>A c.1998G>A c.1865G>A c.2130G>A (n.2130G>A) c.25065G>A (p.Gly8355=) n.3028G>A c.5056G>A (n.5056G>A) n.9972G>A c.4159G>A (n.4159G>A) n.9864G>A c.851-2716C>T (n.851-2716C>T) n.2894G>A n.6917G>A c.2745G>A (p.Gly915=) c.26427G>A (p.Gly8809=) c.26415G>A (p.Gly8805=) c.26406G>A (p.Gly8802=) c.26385G>A (p.Gly8795=) c.26376G>A (p.Gly8792=) c.26370G>A (p.Gly8790=) c.26358G>A (p.Gly8786=) c.26355G>A (p.Gly8785=) c.26316G>A (p.Gly8772=) c.26301G>A (p.Gly8767=) c.26286G>A (p.Gly8762=) c.26274G>A (p.Gly8758=) c.26271G>A (p.Gly8757=) c.26268G>A (p.Gly8756=) c.*91G>A (n.*91G>A) c.26424G>A (p.Gly8808=) c.26412G>A (p.Gly8804=) c.26262G>A (p.Gly8754=) c.24702G>A (p.Gly8234=) c.24195G>A (p.Gly8065=) c.19662G>A (p.Gly6554=) c.26400G>A (p.Gly8800=) c.26349G>A (p.Gly8783=) c.26313G>A (p.Gly8771=) c.26160G>A (p.Gly8720=) | |
6 | g.152122551C>A | CA366088848 | ESR1,SYNE1 | c.2813G>T (p.Gly938Val) c.26279G>T (p.Gly8760Val) c.26135G>T (p.Gly8712Val) c.1622G>T c.1997G>T c.1864G>T c.2129G>T (n.2129G>T) c.25064G>T (p.Gly8355Val) n.3027G>T c.5055G>T (n.5055G>T) n.9971G>T c.4158G>T (n.4158G>T) n.9863G>T c.851-2715C>A (n.851-2715C>A) n.2893G>T n.6916G>T c.2744G>T (p.Gly915Val) c.26426G>T (p.Gly8809Val) c.26414G>T (p.Gly8805Val) c.26405G>T (p.Gly8802Val) c.26384G>T (p.Gly8795Val) c.26375G>T (p.Gly8792Val) c.26369G>T (p.Gly8790Val) c.26357G>T (p.Gly8786Val) c.26354G>T (p.Gly8785Val) c.26315G>T (p.Gly8772Val) c.26300G>T (p.Gly8767Val) c.26285G>T (p.Gly8762Val) c.26273G>T (p.Gly8758Val) c.26270G>T (p.Gly8757Val) c.26267G>T (p.Gly8756Val) c.*90G>T (n.*90G>T) c.26423G>T (p.Gly8808Val) c.26411G>T (p.Gly8804Val) c.26261G>T (p.Gly8754Val) c.24701G>T (p.Gly8234Val) c.24194G>T (p.Gly8065Val) c.19661G>T (p.Gly6554Val) c.26399G>T (p.Gly8800Val) c.26348G>T (p.Gly8783Val) c.26312G>T (p.Gly8771Val) c.26159G>T (p.Gly8720Val) | gnomAD v4 |
6 | g.152122551C= | CA1673188976 | ESR1,SYNE1 | c.2813G= (p.Gly938=) c.26279G= (p.Gly8760=) c.26135G= (p.Gly8712=) c.1622G= c.1997G= c.1864G= c.2129G= (n.2129G=) c.25064G= (p.Gly8355=) n.3027G= c.5055G= (n.5055G=) n.9971G= c.4158G= (n.4158G=) n.9863G= c.851-2715C= (n.851-2715C=) n.2893G= n.6916G= c.2744G= (p.Gly915=) c.26426G= (p.Gly8809=) c.26414G= (p.Gly8805=) c.26405G= (p.Gly8802=) c.26384G= (p.Gly8795=) c.26375G= (p.Gly8792=) c.26369G= (p.Gly8790=) c.26357G= (p.Gly8786=) c.26354G= (p.Gly8785=) c.26315G= (p.Gly8772=) c.26300G= (p.Gly8767=) c.26285G= (p.Gly8762=) c.26273G= (p.Gly8758=) c.26270G= (p.Gly8757=) c.26267G= (p.Gly8756=) c.*90G= (n.*90G=) c.26423G= (p.Gly8808=) c.26411G= (p.Gly8804=) c.26261G= (p.Gly8754=) c.24701G= (p.Gly8234=) c.24194G= (p.Gly8065=) c.19661G= (p.Gly6554=) c.26399G= (p.Gly8800=) c.26348G= (p.Gly8783=) c.26312G= (p.Gly8771=) c.26159G= (p.Gly8720=) | |
6 | g.152122551C>G | CA366088850 | ESR1,SYNE1 | c.2813G>C (p.Gly938Ala) c.26279G>C (p.Gly8760Ala) c.26135G>C (p.Gly8712Ala) c.1622G>C c.1997G>C c.1864G>C c.2129G>C (n.2129G>C) c.25064G>C (p.Gly8355Ala) n.3027G>C c.5055G>C (n.5055G>C) n.9971G>C c.4158G>C (n.4158G>C) n.9863G>C c.851-2715C>G (n.851-2715C>G) n.2893G>C n.6916G>C c.2744G>C (p.Gly915Ala) c.26426G>C (p.Gly8809Ala) c.26414G>C (p.Gly8805Ala) c.26405G>C (p.Gly8802Ala) c.26384G>C (p.Gly8795Ala) c.26375G>C (p.Gly8792Ala) c.26369G>C (p.Gly8790Ala) c.26357G>C (p.Gly8786Ala) c.26354G>C (p.Gly8785Ala) c.26315G>C (p.Gly8772Ala) c.26300G>C (p.Gly8767Ala) c.26285G>C (p.Gly8762Ala) c.26273G>C (p.Gly8758Ala) c.26270G>C (p.Gly8757Ala) c.26267G>C (p.Gly8756Ala) c.*90G>C (n.*90G>C) c.26423G>C (p.Gly8808Ala) c.26411G>C (p.Gly8804Ala) c.26261G>C (p.Gly8754Ala) c.24701G>C (p.Gly8234Ala) c.24194G>C (p.Gly8065Ala) c.19661G>C (p.Gly6554Ala) c.26399G>C (p.Gly8800Ala) c.26348G>C (p.Gly8783Ala) c.26312G>C (p.Gly8771Ala) c.26159G>C (p.Gly8720Ala) | |
6 | g.152122551C>T | CA4052594 | ESR1,SYNE1 | c.2813G>A (p.Gly938Glu) c.26279G>A (p.Gly8760Glu) c.26135G>A (p.Gly8712Glu) c.1622G>A c.1997G>A c.1864G>A c.2129G>A (n.2129G>A) c.25064G>A (p.Gly8355Glu) n.3027G>A c.5055G>A (n.5055G>A) n.9971G>A c.4158G>A (n.4158G>A) n.9863G>A c.851-2715C>T (n.851-2715C>T) n.2893G>A n.6916G>A c.2744G>A (p.Gly915Glu) c.26426G>A (p.Gly8809Glu) c.26414G>A (p.Gly8805Glu) c.26405G>A (p.Gly8802Glu) c.26384G>A (p.Gly8795Glu) c.26375G>A (p.Gly8792Glu) c.26369G>A (p.Gly8790Glu) c.26357G>A (p.Gly8786Glu) c.26354G>A (p.Gly8785Glu) c.26315G>A (p.Gly8772Glu) c.26300G>A (p.Gly8767Glu) c.26285G>A (p.Gly8762Glu) c.26273G>A (p.Gly8758Glu) c.26270G>A (p.Gly8757Glu) c.26267G>A (p.Gly8756Glu) c.*90G>A (n.*90G>A) c.26423G>A (p.Gly8808Glu) c.26411G>A (p.Gly8804Glu) c.26261G>A (p.Gly8754Glu) c.24701G>A (p.Gly8234Glu) c.24194G>A (p.Gly8065Glu) c.19661G>A (p.Gly6554Glu) c.26399G>A (p.Gly8800Glu) c.26348G>A (p.Gly8783Glu) c.26312G>A (p.Gly8771Glu) c.26159G>A (p.Gly8720Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122552C>A | CA366088855 | ESR1,SYNE1 | c.2812G>T (p.Gly938Trp) c.26278G>T (p.Gly8760Trp) c.26134G>T (p.Gly8712Trp) c.1621G>T c.1996G>T c.1863G>T c.2128G>T (n.2128G>T) c.25063G>T (p.Gly8355Trp) n.3026G>T c.5054G>T (n.5054G>T) n.9970G>T c.4157G>T (n.4157G>T) n.9862G>T c.851-2714C>A (n.851-2714C>A) n.2892G>T n.6915G>T c.2743G>T (p.Gly915Trp) c.26425G>T (p.Gly8809Trp) c.26413G>T (p.Gly8805Trp) c.26404G>T (p.Gly8802Trp) c.26383G>T (p.Gly8795Trp) c.26374G>T (p.Gly8792Trp) c.26368G>T (p.Gly8790Trp) c.26356G>T (p.Gly8786Trp) c.26353G>T (p.Gly8785Trp) c.26314G>T (p.Gly8772Trp) c.26299G>T (p.Gly8767Trp) c.26284G>T (p.Gly8762Trp) c.26272G>T (p.Gly8758Trp) c.26269G>T (p.Gly8757Trp) c.26266G>T (p.Gly8756Trp) c.*89G>T (n.*89G>T) c.26422G>T (p.Gly8808Trp) c.26410G>T (p.Gly8804Trp) c.26260G>T (p.Gly8754Trp) c.24700G>T (p.Gly8234Trp) c.24193G>T (p.Gly8065Trp) c.19660G>T (p.Gly6554Trp) c.26398G>T (p.Gly8800Trp) c.26347G>T (p.Gly8783Trp) c.26311G>T (p.Gly8771Trp) c.26158G>T (p.Gly8720Trp) | dbSNP |
6 | g.152122552C= | CA1673188981 | ESR1,SYNE1 | c.2812G= (p.Gly938=) c.26278G= (p.Gly8760=) c.26134G= (p.Gly8712=) c.1621G= c.1996G= c.1863G= c.2128G= (n.2128G=) c.25063G= (p.Gly8355=) n.3026G= c.5054G= (n.5054G=) n.9970G= c.4157G= (n.4157G=) n.9862G= c.851-2714C= (n.851-2714C=) n.2892G= n.6915G= c.2743G= (p.Gly915=) c.26425G= (p.Gly8809=) c.26413G= (p.Gly8805=) c.26404G= (p.Gly8802=) c.26383G= (p.Gly8795=) c.26374G= (p.Gly8792=) c.26368G= (p.Gly8790=) c.26356G= (p.Gly8786=) c.26353G= (p.Gly8785=) c.26314G= (p.Gly8772=) c.26299G= (p.Gly8767=) c.26284G= (p.Gly8762=) c.26272G= (p.Gly8758=) c.26269G= (p.Gly8757=) c.26266G= (p.Gly8756=) c.*89G= (n.*89G=) c.26422G= (p.Gly8808=) c.26410G= (p.Gly8804=) c.26260G= (p.Gly8754=) c.24700G= (p.Gly8234=) c.24193G= (p.Gly8065=) c.19660G= (p.Gly6554=) c.26398G= (p.Gly8800=) c.26347G= (p.Gly8783=) c.26311G= (p.Gly8771=) c.26158G= (p.Gly8720=) | |
6 | g.152122552C>G | CA366088853 | ESR1,SYNE1 | c.2812G>C (p.Gly938Arg) c.26278G>C (p.Gly8760Arg) c.26134G>C (p.Gly8712Arg) c.1621G>C c.1996G>C c.1863G>C c.2128G>C (n.2128G>C) c.25063G>C (p.Gly8355Arg) n.3026G>C c.5054G>C (n.5054G>C) n.9970G>C c.4157G>C (n.4157G>C) n.9862G>C c.851-2714C>G (n.851-2714C>G) n.2892G>C n.6915G>C c.2743G>C (p.Gly915Arg) c.26425G>C (p.Gly8809Arg) c.26413G>C (p.Gly8805Arg) c.26404G>C (p.Gly8802Arg) c.26383G>C (p.Gly8795Arg) c.26374G>C (p.Gly8792Arg) c.26368G>C (p.Gly8790Arg) c.26356G>C (p.Gly8786Arg) c.26353G>C (p.Gly8785Arg) c.26314G>C (p.Gly8772Arg) c.26299G>C (p.Gly8767Arg) c.26284G>C (p.Gly8762Arg) c.26272G>C (p.Gly8758Arg) c.26269G>C (p.Gly8757Arg) c.26266G>C (p.Gly8756Arg) c.*89G>C (n.*89G>C) c.26422G>C (p.Gly8808Arg) c.26410G>C (p.Gly8804Arg) c.26260G>C (p.Gly8754Arg) c.24700G>C (p.Gly8234Arg) c.24193G>C (p.Gly8065Arg) c.19660G>C (p.Gly6554Arg) c.26398G>C (p.Gly8800Arg) c.26347G>C (p.Gly8783Arg) c.26311G>C (p.Gly8771Arg) c.26158G>C (p.Gly8720Arg) | |
6 | g.152122552C>T | CA4052595 | ESR1,SYNE1 | c.2812G>A (p.Gly938Arg) c.26278G>A (p.Gly8760Arg) c.26134G>A (p.Gly8712Arg) c.1621G>A c.1996G>A c.1863G>A c.2128G>A (n.2128G>A) c.25063G>A (p.Gly8355Arg) n.3026G>A c.5054G>A (n.5054G>A) n.9970G>A c.4157G>A (n.4157G>A) n.9862G>A c.851-2714C>T (n.851-2714C>T) n.2892G>A n.6915G>A c.2743G>A (p.Gly915Arg) c.26425G>A (p.Gly8809Arg) c.26413G>A (p.Gly8805Arg) c.26404G>A (p.Gly8802Arg) c.26383G>A (p.Gly8795Arg) c.26374G>A (p.Gly8792Arg) c.26368G>A (p.Gly8790Arg) c.26356G>A (p.Gly8786Arg) c.26353G>A (p.Gly8785Arg) c.26314G>A (p.Gly8772Arg) c.26299G>A (p.Gly8767Arg) c.26284G>A (p.Gly8762Arg) c.26272G>A (p.Gly8758Arg) c.26269G>A (p.Gly8757Arg) c.26266G>A (p.Gly8756Arg) c.*89G>A (n.*89G>A) c.26422G>A (p.Gly8808Arg) c.26410G>A (p.Gly8804Arg) c.26260G>A (p.Gly8754Arg) c.24700G>A (p.Gly8234Arg) c.24193G>A (p.Gly8065Arg) c.19660G>A (p.Gly6554Arg) c.26398G>A (p.Gly8800Arg) c.26347G>A (p.Gly8783Arg) c.26311G>A (p.Gly8771Arg) c.26158G>A (p.Gly8720Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122553G>A | CA150189529 | ESR1,SYNE1 | c.2811C>T (p.Ile937=) c.26277C>T (p.Ile8759=) c.26133C>T (p.Ile8711=) c.1620C>T c.1995C>T c.1862C>T c.2127C>T (n.2127C>T) c.25062C>T (p.Ile8354=) n.3025C>T c.5053C>T (n.5053C>T) n.9969C>T c.4156C>T (n.4156C>T) n.9861C>T c.851-2713G>A (n.851-2713G>A) n.2891C>T n.6914C>T c.2742C>T (p.Ile914=) c.26424C>T (p.Ile8808=) c.26412C>T (p.Ile8804=) c.26403C>T (p.Ile8801=) c.26382C>T (p.Ile8794=) c.26373C>T (p.Ile8791=) c.26367C>T (p.Ile8789=) c.26355C>T (p.Ile8785=) c.26352C>T (p.Ile8784=) c.26313C>T (p.Ile8771=) c.26298C>T (p.Ile8766=) c.26283C>T (p.Ile8761=) c.26271C>T (p.Ile8757=) c.26268C>T (p.Ile8756=) c.26265C>T (p.Ile8755=) c.*88C>T (n.*88C>T) c.26421C>T (p.Ile8807=) c.26409C>T (p.Ile8803=) c.26259C>T (p.Ile8753=) c.24699C>T (p.Ile8233=) c.24192C>T (p.Ile8064=) c.19659C>T (p.Ile6553=) c.26397C>T (p.Ile8799=) c.26346C>T (p.Ile8782=) c.26310C>T (p.Ile8770=) c.26157C>T (p.Ile8719=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122553G>C | CA366088858 | ESR1,SYNE1 | c.2811C>G (p.Ile937Met) c.26277C>G (p.Ile8759Met) c.26133C>G (p.Ile8711Met) c.1620C>G c.1995C>G c.1862C>G c.2127C>G (n.2127C>G) c.25062C>G (p.Ile8354Met) n.3025C>G c.5053C>G (n.5053C>G) n.9969C>G c.4156C>G (n.4156C>G) n.9861C>G c.851-2713G>C (n.851-2713G>C) n.2891C>G n.6914C>G c.2742C>G (p.Ile914Met) c.26424C>G (p.Ile8808Met) c.26412C>G (p.Ile8804Met) c.26403C>G (p.Ile8801Met) c.26382C>G (p.Ile8794Met) c.26373C>G (p.Ile8791Met) c.26367C>G (p.Ile8789Met) c.26355C>G (p.Ile8785Met) c.26352C>G (p.Ile8784Met) c.26313C>G (p.Ile8771Met) c.26298C>G (p.Ile8766Met) c.26283C>G (p.Ile8761Met) c.26271C>G (p.Ile8757Met) c.26268C>G (p.Ile8756Met) c.26265C>G (p.Ile8755Met) c.*88C>G (n.*88C>G) c.26421C>G (p.Ile8807Met) c.26409C>G (p.Ile8803Met) c.26259C>G (p.Ile8753Met) c.24699C>G (p.Ile8233Met) c.24192C>G (p.Ile8064Met) c.19659C>G (p.Ile6553Met) c.26397C>G (p.Ile8799Met) c.26346C>G (p.Ile8782Met) c.26310C>G (p.Ile8770Met) c.26157C>G (p.Ile8719Met) | |
6 | g.152122553G= | CA1673188989 | ESR1,SYNE1 | c.2811C= (p.Ile937=) c.26277C= (p.Ile8759=) c.26133C= (p.Ile8711=) c.1620C= c.1995C= c.1862C= c.2127C= (n.2127C=) c.25062C= (p.Ile8354=) n.3025C= c.5053C= (n.5053C=) n.9969C= c.4156C= (n.4156C=) n.9861C= c.851-2713G= (n.851-2713G=) n.2891C= n.6914C= c.2742C= (p.Ile914=) c.26424C= (p.Ile8808=) c.26412C= (p.Ile8804=) c.26403C= (p.Ile8801=) c.26382C= (p.Ile8794=) c.26373C= (p.Ile8791=) c.26367C= (p.Ile8789=) c.26355C= (p.Ile8785=) c.26352C= (p.Ile8784=) c.26313C= (p.Ile8771=) c.26298C= (p.Ile8766=) c.26283C= (p.Ile8761=) c.26271C= (p.Ile8757=) c.26268C= (p.Ile8756=) c.26265C= (p.Ile8755=) c.*88C= (n.*88C=) c.26421C= (p.Ile8807=) c.26409C= (p.Ile8803=) c.26259C= (p.Ile8753=) c.24699C= (p.Ile8233=) c.24192C= (p.Ile8064=) c.19659C= (p.Ile6553=) c.26397C= (p.Ile8799=) c.26346C= (p.Ile8782=) c.26310C= (p.Ile8770=) c.26157C= (p.Ile8719=) | |
6 | g.152122553G>T | CA452969693 | ESR1,SYNE1 | c.2811C>A (p.Ile937=) c.26277C>A (p.Ile8759=) c.26133C>A (p.Ile8711=) c.1620C>A c.1995C>A c.1862C>A c.2127C>A (n.2127C>A) c.25062C>A (p.Ile8354=) n.3025C>A c.5053C>A (n.5053C>A) n.9969C>A c.4156C>A (n.4156C>A) n.9861C>A c.851-2713G>T (n.851-2713G>T) n.2891C>A n.6914C>A c.2742C>A (p.Ile914=) c.26424C>A (p.Ile8808=) c.26412C>A (p.Ile8804=) c.26403C>A (p.Ile8801=) c.26382C>A (p.Ile8794=) c.26373C>A (p.Ile8791=) c.26367C>A (p.Ile8789=) c.26355C>A (p.Ile8785=) c.26352C>A (p.Ile8784=) c.26313C>A (p.Ile8771=) c.26298C>A (p.Ile8766=) c.26283C>A (p.Ile8761=) c.26271C>A (p.Ile8757=) c.26268C>A (p.Ile8756=) c.26265C>A (p.Ile8755=) c.*88C>A (n.*88C>A) c.26421C>A (p.Ile8807=) c.26409C>A (p.Ile8803=) c.26259C>A (p.Ile8753=) c.24699C>A (p.Ile8233=) c.24192C>A (p.Ile8064=) c.19659C>A (p.Ile6553=) c.26397C>A (p.Ile8799=) c.26346C>A (p.Ile8782=) c.26310C>A (p.Ile8770=) c.26157C>A (p.Ile8719=) | |
6 | g.152122554A>C | CA366088860 | ESR1,SYNE1 | c.2810T>G (p.Ile937Ser) c.26276T>G (p.Ile8759Ser) c.26132T>G (p.Ile8711Ser) c.1619T>G c.1994T>G c.1861T>G c.2126T>G (n.2126T>G) c.25061T>G (p.Ile8354Ser) n.3024T>G c.5052T>G (n.5052T>G) n.9968T>G c.4155T>G (n.4155T>G) n.9860T>G c.851-2712A>C (n.851-2712A>C) n.2890T>G n.6913T>G c.2741T>G (p.Ile914Ser) c.26423T>G (p.Ile8808Ser) c.26411T>G (p.Ile8804Ser) c.26402T>G (p.Ile8801Ser) c.26381T>G (p.Ile8794Ser) c.26372T>G (p.Ile8791Ser) c.26366T>G (p.Ile8789Ser) c.26354T>G (p.Ile8785Ser) c.26351T>G (p.Ile8784Ser) c.26312T>G (p.Ile8771Ser) c.26297T>G (p.Ile8766Ser) c.26282T>G (p.Ile8761Ser) c.26270T>G (p.Ile8757Ser) c.26267T>G (p.Ile8756Ser) c.26264T>G (p.Ile8755Ser) c.*87T>G (n.*87T>G) c.26420T>G (p.Ile8807Ser) c.26408T>G (p.Ile8803Ser) c.26258T>G (p.Ile8753Ser) c.24698T>G (p.Ile8233Ser) c.24191T>G (p.Ile8064Ser) c.19658T>G (p.Ile6553Ser) c.26396T>G (p.Ile8799Ser) c.26345T>G (p.Ile8782Ser) c.26309T>G (p.Ile8770Ser) c.26156T>G (p.Ile8719Ser) | |
6 | g.152122554A>G | CA366088861 | ESR1,SYNE1 | c.2810T>C (p.Ile937Thr) c.26276T>C (p.Ile8759Thr) c.26132T>C (p.Ile8711Thr) c.1619T>C c.1994T>C c.1861T>C c.2126T>C (n.2126T>C) c.25061T>C (p.Ile8354Thr) n.3024T>C c.5052T>C (n.5052T>C) n.9968T>C c.4155T>C (n.4155T>C) n.9860T>C c.851-2712A>G (n.851-2712A>G) n.2890T>C n.6913T>C c.2741T>C (p.Ile914Thr) c.26423T>C (p.Ile8808Thr) c.26411T>C (p.Ile8804Thr) c.26402T>C (p.Ile8801Thr) c.26381T>C (p.Ile8794Thr) c.26372T>C (p.Ile8791Thr) c.26366T>C (p.Ile8789Thr) c.26354T>C (p.Ile8785Thr) c.26351T>C (p.Ile8784Thr) c.26312T>C (p.Ile8771Thr) c.26297T>C (p.Ile8766Thr) c.26282T>C (p.Ile8761Thr) c.26270T>C (p.Ile8757Thr) c.26267T>C (p.Ile8756Thr) c.26264T>C (p.Ile8755Thr) c.*87T>C (n.*87T>C) c.26420T>C (p.Ile8807Thr) c.26408T>C (p.Ile8803Thr) c.26258T>C (p.Ile8753Thr) c.24698T>C (p.Ile8233Thr) c.24191T>C (p.Ile8064Thr) c.19658T>C (p.Ile6553Thr) c.26396T>C (p.Ile8799Thr) c.26345T>C (p.Ile8782Thr) c.26309T>C (p.Ile8770Thr) c.26156T>C (p.Ile8719Thr) | |
6 | g.152122554A>T | CA366088863 | ESR1,SYNE1 | c.2810T>A (p.Ile937Asn) c.26276T>A (p.Ile8759Asn) c.26132T>A (p.Ile8711Asn) c.1619T>A c.1994T>A c.1861T>A c.2126T>A (n.2126T>A) c.25061T>A (p.Ile8354Asn) n.3024T>A c.5052T>A (n.5052T>A) n.9968T>A c.4155T>A (n.4155T>A) n.9860T>A c.851-2712A>T (n.851-2712A>T) n.2890T>A n.6913T>A c.2741T>A (p.Ile914Asn) c.26423T>A (p.Ile8808Asn) c.26411T>A (p.Ile8804Asn) c.26402T>A (p.Ile8801Asn) c.26381T>A (p.Ile8794Asn) c.26372T>A (p.Ile8791Asn) c.26366T>A (p.Ile8789Asn) c.26354T>A (p.Ile8785Asn) c.26351T>A (p.Ile8784Asn) c.26312T>A (p.Ile8771Asn) c.26297T>A (p.Ile8766Asn) c.26282T>A (p.Ile8761Asn) c.26270T>A (p.Ile8757Asn) c.26267T>A (p.Ile8756Asn) c.26264T>A (p.Ile8755Asn) c.*87T>A (n.*87T>A) c.26420T>A (p.Ile8807Asn) c.26408T>A (p.Ile8803Asn) c.26258T>A (p.Ile8753Asn) c.24698T>A (p.Ile8233Asn) c.24191T>A (p.Ile8064Asn) c.19658T>A (p.Ile6553Asn) c.26396T>A (p.Ile8799Asn) c.26345T>A (p.Ile8782Asn) c.26309T>A (p.Ile8770Asn) c.26156T>A (p.Ile8719Asn) | |
6 | g.152122555T>A | CA366088865 | ESR1,SYNE1 | c.2809A>T (p.Ile937Phe) c.26275A>T (p.Ile8759Phe) c.26131A>T (p.Ile8711Phe) c.1618A>T c.1993A>T c.1860A>T c.2125A>T (n.2125A>T) c.25060A>T (p.Ile8354Phe) n.3023A>T c.5051A>T (n.5051A>T) n.9967A>T c.4154A>T (n.4154A>T) n.9859A>T c.851-2711T>A (n.851-2711T>A) n.2889A>T n.6912A>T c.2740A>T (p.Ile914Phe) c.26422A>T (p.Ile8808Phe) c.26410A>T (p.Ile8804Phe) c.26401A>T (p.Ile8801Phe) c.26380A>T (p.Ile8794Phe) c.26371A>T (p.Ile8791Phe) c.26365A>T (p.Ile8789Phe) c.26353A>T (p.Ile8785Phe) c.26350A>T (p.Ile8784Phe) c.26311A>T (p.Ile8771Phe) c.26296A>T (p.Ile8766Phe) c.26281A>T (p.Ile8761Phe) c.26269A>T (p.Ile8757Phe) c.26266A>T (p.Ile8756Phe) c.26263A>T (p.Ile8755Phe) c.*86A>T (n.*86A>T) c.26419A>T (p.Ile8807Phe) c.26407A>T (p.Ile8803Phe) c.26257A>T (p.Ile8753Phe) c.24697A>T (p.Ile8233Phe) c.24190A>T (p.Ile8064Phe) c.19657A>T (p.Ile6553Phe) c.26395A>T (p.Ile8799Phe) c.26344A>T (p.Ile8782Phe) c.26308A>T (p.Ile8770Phe) c.26155A>T (p.Ile8719Phe) | |
6 | g.152122555T>C | CA366088867 | ESR1,SYNE1 | c.2809A>G (p.Ile937Val) c.26275A>G (p.Ile8759Val) c.26131A>G (p.Ile8711Val) c.1618A>G c.1993A>G c.1860A>G c.2125A>G (n.2125A>G) c.25060A>G (p.Ile8354Val) n.3023A>G c.5051A>G (n.5051A>G) n.9967A>G c.4154A>G (n.4154A>G) n.9859A>G c.851-2711T>C (n.851-2711T>C) n.2889A>G n.6912A>G c.2740A>G (p.Ile914Val) c.26422A>G (p.Ile8808Val) c.26410A>G (p.Ile8804Val) c.26401A>G (p.Ile8801Val) c.26380A>G (p.Ile8794Val) c.26371A>G (p.Ile8791Val) c.26365A>G (p.Ile8789Val) c.26353A>G (p.Ile8785Val) c.26350A>G (p.Ile8784Val) c.26311A>G (p.Ile8771Val) c.26296A>G (p.Ile8766Val) c.26281A>G (p.Ile8761Val) c.26269A>G (p.Ile8757Val) c.26266A>G (p.Ile8756Val) c.26263A>G (p.Ile8755Val) c.*86A>G (n.*86A>G) c.26419A>G (p.Ile8807Val) c.26407A>G (p.Ile8803Val) c.26257A>G (p.Ile8753Val) c.24697A>G (p.Ile8233Val) c.24190A>G (p.Ile8064Val) c.19657A>G (p.Ile6553Val) c.26395A>G (p.Ile8799Val) c.26344A>G (p.Ile8782Val) c.26308A>G (p.Ile8770Val) c.26155A>G (p.Ile8719Val) | gnomAD v4 |
6 | g.152122555T>G | CA366088869 | ESR1,SYNE1 | c.2809A>C (p.Ile937Leu) c.26275A>C (p.Ile8759Leu) c.26131A>C (p.Ile8711Leu) c.1618A>C c.1993A>C c.1860A>C c.2125A>C (n.2125A>C) c.25060A>C (p.Ile8354Leu) n.3023A>C c.5051A>C (n.5051A>C) n.9967A>C c.4154A>C (n.4154A>C) n.9859A>C c.851-2711T>G (n.851-2711T>G) n.2889A>C n.6912A>C c.2740A>C (p.Ile914Leu) c.26422A>C (p.Ile8808Leu) c.26410A>C (p.Ile8804Leu) c.26401A>C (p.Ile8801Leu) c.26380A>C (p.Ile8794Leu) c.26371A>C (p.Ile8791Leu) c.26365A>C (p.Ile8789Leu) c.26353A>C (p.Ile8785Leu) c.26350A>C (p.Ile8784Leu) c.26311A>C (p.Ile8771Leu) c.26296A>C (p.Ile8766Leu) c.26281A>C (p.Ile8761Leu) c.26269A>C (p.Ile8757Leu) c.26266A>C (p.Ile8756Leu) c.26263A>C (p.Ile8755Leu) c.*86A>C (n.*86A>C) c.26419A>C (p.Ile8807Leu) c.26407A>C (p.Ile8803Leu) c.26257A>C (p.Ile8753Leu) c.24697A>C (p.Ile8233Leu) c.24190A>C (p.Ile8064Leu) c.19657A>C (p.Ile6553Leu) c.26395A>C (p.Ile8799Leu) c.26344A>C (p.Ile8782Leu) c.26308A>C (p.Ile8770Leu) c.26155A>C (p.Ile8719Leu) | gnomAD v4 |
6 | g.152122555_152122558delinsTGAG | CA1673188995 | ESR1,SYNE1 | c.2806_2809delinsCTCA (p.Leu936=) c.26272_26275delinsCTCA (p.Leu8758=) c.26128_26131delinsCTCA (p.Leu8710=) c.1615_1618delinsCTCA c.1990_1993delinsCTCA c.1857_1860delinsCTCA c.2122_2125delinsCTCA (n.2122_2125delinsCTCA) c.25057_25060delinsCTCA (p.Leu8353=) n.3020_3023delinsCTCA c.5048_5051delinsCTCA (n.5048_5051delinsCTCA) n.9964_9967delinsCTCA c.4151_4154delinsCTCA (n.4151_4154delinsCTCA) n.9856_9859delinsCTCA c.851-2711_851-2708delinsTGAG (n.851-2711_851-2708delinsTGAG) n.2886_2889delinsCTCA n.6909_6912delinsCTCA c.2737_2740delinsCTCA (p.Leu913=) c.26419_26422delinsCTCA (p.Leu8807=) c.26407_26410delinsCTCA (p.Leu8803=) c.26398_26401delinsCTCA (p.Leu8800=) c.26377_26380delinsCTCA (p.Leu8793=) c.26368_26371delinsCTCA (p.Leu8790=) c.26362_26365delinsCTCA (p.Leu8788=) c.26350_26353delinsCTCA (p.Leu8784=) c.26347_26350delinsCTCA (p.Leu8783=) c.26308_26311delinsCTCA (p.Leu8770=) c.26293_26296delinsCTCA (p.Leu8765=) c.26278_26281delinsCTCA (p.Leu8760=) c.26266_26269delinsCTCA (p.Leu8756=) c.26263_26266delinsCTCA (p.Leu8755=) c.26260_26263delinsCTCA (p.Leu8754=) c.*83_*86delinsCTCA (n.*83_*86delinsCTCA) c.26416_26419delinsCTCA (p.Leu8806=) c.26404_26407delinsCTCA (p.Leu8802=) c.26254_26257delinsCTCA (p.Leu8752=) c.24694_24697delinsCTCA (p.Leu8232=) c.24187_24190delinsCTCA (p.Leu8063=) c.19654_19657delinsCTCA (p.Leu6552=) c.26392_26395delinsCTCA (p.Leu8798=) c.26341_26344delinsCTCA (p.Leu8781=) c.26305_26308delinsCTCA (p.Leu8769=) c.26152_26155delinsCTCA (p.Leu8718=) | |
6 | g.152122556G>A | CA452969698 | ESR1,SYNE1 | c.2808C>T (p.Leu936=) c.26274C>T (p.Leu8758=) c.26130C>T (p.Leu8710=) c.1617C>T c.1992C>T c.1859C>T c.2124C>T (n.2124C>T) c.25059C>T (p.Leu8353=) n.3022C>T c.5050C>T (n.5050C>T) n.9966C>T c.4153C>T (n.4153C>T) n.9858C>T c.851-2710G>A (n.851-2710G>A) n.2888C>T n.6911C>T c.2739C>T (p.Leu913=) c.26421C>T (p.Leu8807=) c.26409C>T (p.Leu8803=) c.26400C>T (p.Leu8800=) c.26379C>T (p.Leu8793=) c.26370C>T (p.Leu8790=) c.26364C>T (p.Leu8788=) c.26352C>T (p.Leu8784=) c.26349C>T (p.Leu8783=) c.26310C>T (p.Leu8770=) c.26295C>T (p.Leu8765=) c.26280C>T (p.Leu8760=) c.26268C>T (p.Leu8756=) c.26265C>T (p.Leu8755=) c.26262C>T (p.Leu8754=) c.*85C>T (n.*85C>T) c.26418C>T (p.Leu8806=) c.26406C>T (p.Leu8802=) c.26256C>T (p.Leu8752=) c.24696C>T (p.Leu8232=) c.24189C>T (p.Leu8063=) c.19656C>T (p.Leu6552=) c.26394C>T (p.Leu8798=) c.26343C>T (p.Leu8781=) c.26307C>T (p.Leu8769=) c.26154C>T (p.Leu8718=) | |
6 | g.152122556G>C | CA452969699 | ESR1,SYNE1 | c.2808C>G (p.Leu936=) c.26274C>G (p.Leu8758=) c.26130C>G (p.Leu8710=) c.1617C>G c.1992C>G c.1859C>G c.2124C>G (n.2124C>G) c.25059C>G (p.Leu8353=) n.3022C>G c.5050C>G (n.5050C>G) n.9966C>G c.4153C>G (n.4153C>G) n.9858C>G c.851-2710G>C (n.851-2710G>C) n.2888C>G n.6911C>G c.2739C>G (p.Leu913=) c.26421C>G (p.Leu8807=) c.26409C>G (p.Leu8803=) c.26400C>G (p.Leu8800=) c.26379C>G (p.Leu8793=) c.26370C>G (p.Leu8790=) c.26364C>G (p.Leu8788=) c.26352C>G (p.Leu8784=) c.26349C>G (p.Leu8783=) c.26310C>G (p.Leu8770=) c.26295C>G (p.Leu8765=) c.26280C>G (p.Leu8760=) c.26268C>G (p.Leu8756=) c.26265C>G (p.Leu8755=) c.26262C>G (p.Leu8754=) c.*85C>G (n.*85C>G) c.26418C>G (p.Leu8806=) c.26406C>G (p.Leu8802=) c.26256C>G (p.Leu8752=) c.24696C>G (p.Leu8232=) c.24189C>G (p.Leu8063=) c.19656C>G (p.Leu6552=) c.26394C>G (p.Leu8798=) c.26343C>G (p.Leu8781=) c.26307C>G (p.Leu8769=) c.26154C>G (p.Leu8718=) | |
6 | g.152122556G>T | CA452969700 | ESR1,SYNE1 | c.2808C>A (p.Leu936=) c.26274C>A (p.Leu8758=) c.26130C>A (p.Leu8710=) c.1617C>A c.1992C>A c.1859C>A c.2124C>A (n.2124C>A) c.25059C>A (p.Leu8353=) n.3022C>A c.5050C>A (n.5050C>A) n.9966C>A c.4153C>A (n.4153C>A) n.9858C>A c.851-2710G>T (n.851-2710G>T) n.2888C>A n.6911C>A c.2739C>A (p.Leu913=) c.26421C>A (p.Leu8807=) c.26409C>A (p.Leu8803=) c.26400C>A (p.Leu8800=) c.26379C>A (p.Leu8793=) c.26370C>A (p.Leu8790=) c.26364C>A (p.Leu8788=) c.26352C>A (p.Leu8784=) c.26349C>A (p.Leu8783=) c.26310C>A (p.Leu8770=) c.26295C>A (p.Leu8765=) c.26280C>A (p.Leu8760=) c.26268C>A (p.Leu8756=) c.26265C>A (p.Leu8755=) c.26262C>A (p.Leu8754=) c.*85C>A (n.*85C>A) c.26418C>A (p.Leu8806=) c.26406C>A (p.Leu8802=) c.26256C>A (p.Leu8752=) c.24696C>A (p.Leu8232=) c.24189C>A (p.Leu8063=) c.19656C>A (p.Leu6552=) c.26394C>A (p.Leu8798=) c.26343C>A (p.Leu8781=) c.26307C>A (p.Leu8769=) c.26154C>A (p.Leu8718=) | |
6 | g.152122562_152122564del | CA571437293 | ESR1,SYNE1 | c.2806_2808del (p.Leu936del) c.26272_26274del (p.Leu8758del) c.26128_26130del (p.Leu8710del) c.1615_1617del c.1990_1992del c.1857_1859del c.2122_2124del (n.2122_2124del) c.25057_25059del (p.Leu8353del) n.3020_3022del c.5048_5050del (n.5048_5050del) n.9964_9966del c.4151_4153del (n.4151_4153del) n.9856_9858del c.851-2704_851-2702del (n.851-2704_851-2702del) n.2886_2888del n.6909_6911del c.2737_2739del (p.Leu913del) c.26419_26421del (p.Leu8807del) c.26407_26409del (p.Leu8803del) c.26398_26400del (p.Leu8800del) c.26377_26379del (p.Leu8793del) c.26368_26370del (p.Leu8790del) c.26362_26364del (p.Leu8788del) c.26350_26352del (p.Leu8784del) c.26347_26349del (p.Leu8783del) c.26308_26310del (p.Leu8770del) c.26293_26295del (p.Leu8765del) c.26278_26280del (p.Leu8760del) c.26266_26268del (p.Leu8756del) c.26263_26265del (p.Leu8755del) c.26260_26262del (p.Leu8754del) c.*83_*85del (n.*83_*85del) c.26416_26418del (p.Leu8806del) c.26404_26406del (p.Leu8802del) c.26254_26256del (p.Leu8752del) c.24694_24696del (p.Leu8232del) c.24187_24189del (p.Leu8063del) c.19654_19656del (p.Leu6552del) c.26392_26394del (p.Leu8798del) c.26341_26343del (p.Leu8781del) c.26305_26307del (p.Leu8769del) c.26152_26154del (p.Leu8718del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122557A>C | CA366088871 | ESR1,SYNE1 | c.2807T>G (p.Leu936Arg) c.26273T>G (p.Leu8758Arg) c.26129T>G (p.Leu8710Arg) c.1616T>G c.1991T>G c.1858T>G c.2123T>G (n.2123T>G) c.25058T>G (p.Leu8353Arg) n.3021T>G c.5049T>G (n.5049T>G) n.9965T>G c.4152T>G (n.4152T>G) n.9857T>G c.851-2709A>C (n.851-2709A>C) n.2887T>G n.6910T>G c.2738T>G (p.Leu913Arg) c.26420T>G (p.Leu8807Arg) c.26408T>G (p.Leu8803Arg) c.26399T>G (p.Leu8800Arg) c.26378T>G (p.Leu8793Arg) c.26369T>G (p.Leu8790Arg) c.26363T>G (p.Leu8788Arg) c.26351T>G (p.Leu8784Arg) c.26348T>G (p.Leu8783Arg) c.26309T>G (p.Leu8770Arg) c.26294T>G (p.Leu8765Arg) c.26279T>G (p.Leu8760Arg) c.26267T>G (p.Leu8756Arg) c.26264T>G (p.Leu8755Arg) c.26261T>G (p.Leu8754Arg) c.*84T>G (n.*84T>G) c.26417T>G (p.Leu8806Arg) c.26405T>G (p.Leu8802Arg) c.26255T>G (p.Leu8752Arg) c.24695T>G (p.Leu8232Arg) c.24188T>G (p.Leu8063Arg) c.19655T>G (p.Leu6552Arg) c.26393T>G (p.Leu8798Arg) c.26342T>G (p.Leu8781Arg) c.26306T>G (p.Leu8769Arg) c.26153T>G (p.Leu8718Arg) | |
6 | g.152122557A>G | CA366088873 | ESR1,SYNE1 | c.2807T>C (p.Leu936Pro) c.26273T>C (p.Leu8758Pro) c.26129T>C (p.Leu8710Pro) c.1616T>C c.1991T>C c.1858T>C c.2123T>C (n.2123T>C) c.25058T>C (p.Leu8353Pro) n.3021T>C c.5049T>C (n.5049T>C) n.9965T>C c.4152T>C (n.4152T>C) n.9857T>C c.851-2709A>G (n.851-2709A>G) n.2887T>C n.6910T>C c.2738T>C (p.Leu913Pro) c.26420T>C (p.Leu8807Pro) c.26408T>C (p.Leu8803Pro) c.26399T>C (p.Leu8800Pro) c.26378T>C (p.Leu8793Pro) c.26369T>C (p.Leu8790Pro) c.26363T>C (p.Leu8788Pro) c.26351T>C (p.Leu8784Pro) c.26348T>C (p.Leu8783Pro) c.26309T>C (p.Leu8770Pro) c.26294T>C (p.Leu8765Pro) c.26279T>C (p.Leu8760Pro) c.26267T>C (p.Leu8756Pro) c.26264T>C (p.Leu8755Pro) c.26261T>C (p.Leu8754Pro) c.*84T>C (n.*84T>C) c.26417T>C (p.Leu8806Pro) c.26405T>C (p.Leu8802Pro) c.26255T>C (p.Leu8752Pro) c.24695T>C (p.Leu8232Pro) c.24188T>C (p.Leu8063Pro) c.19655T>C (p.Leu6552Pro) c.26393T>C (p.Leu8798Pro) c.26342T>C (p.Leu8781Pro) c.26306T>C (p.Leu8769Pro) c.26153T>C (p.Leu8718Pro) | |
6 | g.152122557A>T | CA366088875 | ESR1,SYNE1 | c.2807T>A (p.Leu936His) c.26273T>A (p.Leu8758His) c.26129T>A (p.Leu8710His) c.1616T>A c.1991T>A c.1858T>A c.2123T>A (n.2123T>A) c.25058T>A (p.Leu8353His) n.3021T>A c.5049T>A (n.5049T>A) n.9965T>A c.4152T>A (n.4152T>A) n.9857T>A c.851-2709A>T (n.851-2709A>T) n.2887T>A n.6910T>A c.2738T>A (p.Leu913His) c.26420T>A (p.Leu8807His) c.26408T>A (p.Leu8803His) c.26399T>A (p.Leu8800His) c.26378T>A (p.Leu8793His) c.26369T>A (p.Leu8790His) c.26363T>A (p.Leu8788His) c.26351T>A (p.Leu8784His) c.26348T>A (p.Leu8783His) c.26309T>A (p.Leu8770His) c.26294T>A (p.Leu8765His) c.26279T>A (p.Leu8760His) c.26267T>A (p.Leu8756His) c.26264T>A (p.Leu8755His) c.26261T>A (p.Leu8754His) c.*84T>A (n.*84T>A) c.26417T>A (p.Leu8806His) c.26405T>A (p.Leu8802His) c.26255T>A (p.Leu8752His) c.24695T>A (p.Leu8232His) c.24188T>A (p.Leu8063His) c.19655T>A (p.Leu6552His) c.26393T>A (p.Leu8798His) c.26342T>A (p.Leu8781His) c.26306T>A (p.Leu8769His) c.26153T>A (p.Leu8718His) | |
6 | g.152122558G>A | CA366088876 | ESR1,SYNE1 | c.2806C>T (p.Leu936Phe) c.26272C>T (p.Leu8758Phe) c.26128C>T (p.Leu8710Phe) c.1615C>T c.1990C>T c.1857C>T c.2122C>T (n.2122C>T) c.25057C>T (p.Leu8353Phe) n.3020C>T c.5048C>T (n.5048C>T) n.9964C>T c.4151C>T (n.4151C>T) n.9856C>T c.851-2708G>A (n.851-2708G>A) n.2886C>T n.6909C>T c.2737C>T (p.Leu913Phe) c.26419C>T (p.Leu8807Phe) c.26407C>T (p.Leu8803Phe) c.26398C>T (p.Leu8800Phe) c.26377C>T (p.Leu8793Phe) c.26368C>T (p.Leu8790Phe) c.26362C>T (p.Leu8788Phe) c.26350C>T (p.Leu8784Phe) c.26347C>T (p.Leu8783Phe) c.26308C>T (p.Leu8770Phe) c.26293C>T (p.Leu8765Phe) c.26278C>T (p.Leu8760Phe) c.26266C>T (p.Leu8756Phe) c.26263C>T (p.Leu8755Phe) c.26260C>T (p.Leu8754Phe) c.*83C>T (n.*83C>T) c.26416C>T (p.Leu8806Phe) c.26404C>T (p.Leu8802Phe) c.26254C>T (p.Leu8752Phe) c.24694C>T (p.Leu8232Phe) c.24187C>T (p.Leu8063Phe) c.19654C>T (p.Leu6552Phe) c.26392C>T (p.Leu8798Phe) c.26341C>T (p.Leu8781Phe) c.26305C>T (p.Leu8769Phe) c.26152C>T (p.Leu8718Phe) | gnomAD v4 |
6 | g.152122558G>C | CA4052596 | ESR1,SYNE1 | c.2806C>G (p.Leu936Val) c.26272C>G (p.Leu8758Val) c.26128C>G (p.Leu8710Val) c.1615C>G c.1990C>G c.1857C>G c.2122C>G (n.2122C>G) c.25057C>G (p.Leu8353Val) n.3020C>G c.5048C>G (n.5048C>G) n.9964C>G c.4151C>G (n.4151C>G) n.9856C>G c.851-2708G>C (n.851-2708G>C) n.2886C>G n.6909C>G c.2737C>G (p.Leu913Val) c.26419C>G (p.Leu8807Val) c.26407C>G (p.Leu8803Val) c.26398C>G (p.Leu8800Val) c.26377C>G (p.Leu8793Val) c.26368C>G (p.Leu8790Val) c.26362C>G (p.Leu8788Val) c.26350C>G (p.Leu8784Val) c.26347C>G (p.Leu8783Val) c.26308C>G (p.Leu8770Val) c.26293C>G (p.Leu8765Val) c.26278C>G (p.Leu8760Val) c.26266C>G (p.Leu8756Val) c.26263C>G (p.Leu8755Val) c.26260C>G (p.Leu8754Val) c.*83C>G (n.*83C>G) c.26416C>G (p.Leu8806Val) c.26404C>G (p.Leu8802Val) c.26254C>G (p.Leu8752Val) c.24694C>G (p.Leu8232Val) c.24187C>G (p.Leu8063Val) c.19654C>G (p.Leu6552Val) c.26392C>G (p.Leu8798Val) c.26341C>G (p.Leu8781Val) c.26305C>G (p.Leu8769Val) c.26152C>G (p.Leu8718Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122558G= | CA1673189006 | ESR1,SYNE1 | c.2806C= (p.Leu936=) c.26272C= (p.Leu8758=) c.26128C= (p.Leu8710=) c.1615C= c.1990C= c.1857C= c.2122C= (n.2122C=) c.25057C= (p.Leu8353=) n.3020C= c.5048C= (n.5048C=) n.9964C= c.4151C= (n.4151C=) n.9856C= c.851-2708G= (n.851-2708G=) n.2886C= n.6909C= c.2737C= (p.Leu913=) c.26419C= (p.Leu8807=) c.26407C= (p.Leu8803=) c.26398C= (p.Leu8800=) c.26377C= (p.Leu8793=) c.26368C= (p.Leu8790=) c.26362C= (p.Leu8788=) c.26350C= (p.Leu8784=) c.26347C= (p.Leu8783=) c.26308C= (p.Leu8770=) c.26293C= (p.Leu8765=) c.26278C= (p.Leu8760=) c.26266C= (p.Leu8756=) c.26263C= (p.Leu8755=) c.26260C= (p.Leu8754=) c.*83C= (n.*83C=) c.26416C= (p.Leu8806=) c.26404C= (p.Leu8802=) c.26254C= (p.Leu8752=) c.24694C= (p.Leu8232=) c.24187C= (p.Leu8063=) c.19654C= (p.Leu6552=) c.26392C= (p.Leu8798=) c.26341C= (p.Leu8781=) c.26305C= (p.Leu8769=) c.26152C= (p.Leu8718=) | |
6 | g.152122558G>T | CA366088878 | ESR1,SYNE1 | c.2806C>A (p.Leu936Ile) c.26272C>A (p.Leu8758Ile) c.26128C>A (p.Leu8710Ile) c.1615C>A c.1990C>A c.1857C>A c.2122C>A (n.2122C>A) c.25057C>A (p.Leu8353Ile) n.3020C>A c.5048C>A (n.5048C>A) n.9964C>A c.4151C>A (n.4151C>A) n.9856C>A c.851-2708G>T (n.851-2708G>T) n.2886C>A n.6909C>A c.2737C>A (p.Leu913Ile) c.26419C>A (p.Leu8807Ile) c.26407C>A (p.Leu8803Ile) c.26398C>A (p.Leu8800Ile) c.26377C>A (p.Leu8793Ile) c.26368C>A (p.Leu8790Ile) c.26362C>A (p.Leu8788Ile) c.26350C>A (p.Leu8784Ile) c.26347C>A (p.Leu8783Ile) c.26308C>A (p.Leu8770Ile) c.26293C>A (p.Leu8765Ile) c.26278C>A (p.Leu8760Ile) c.26266C>A (p.Leu8756Ile) c.26263C>A (p.Leu8755Ile) c.26260C>A (p.Leu8754Ile) c.*83C>A (n.*83C>A) c.26416C>A (p.Leu8806Ile) c.26404C>A (p.Leu8802Ile) c.26254C>A (p.Leu8752Ile) c.24694C>A (p.Leu8232Ile) c.24187C>A (p.Leu8063Ile) c.19654C>A (p.Leu6552Ile) c.26392C>A (p.Leu8798Ile) c.26341C>A (p.Leu8781Ile) c.26305C>A (p.Leu8769Ile) c.26152C>A (p.Leu8718Ile) | |
6 | g.152122559G>A | CA452969702 | ESR1,SYNE1 | c.2805C>T (p.Leu935=) c.26271C>T (p.Leu8757=) c.26127C>T (p.Leu8709=) c.1614C>T c.1989C>T c.1856C>T c.2121C>T (n.2121C>T) c.25056C>T (p.Leu8352=) n.3019C>T c.5047C>T (n.5047C>T) n.9963C>T c.4150C>T (n.4150C>T) n.9855C>T c.851-2707G>A (n.851-2707G>A) n.2885C>T n.6908C>T c.2736C>T (p.Leu912=) c.26418C>T (p.Leu8806=) c.26406C>T (p.Leu8802=) c.26397C>T (p.Leu8799=) c.26376C>T (p.Leu8792=) c.26367C>T (p.Leu8789=) c.26361C>T (p.Leu8787=) c.26349C>T (p.Leu8783=) c.26346C>T (p.Leu8782=) c.26307C>T (p.Leu8769=) c.26292C>T (p.Leu8764=) c.26277C>T (p.Leu8759=) c.26265C>T (p.Leu8755=) c.26262C>T (p.Leu8754=) c.26259C>T (p.Leu8753=) c.*82C>T (n.*82C>T) c.26415C>T (p.Leu8805=) c.26403C>T (p.Leu8801=) c.26253C>T (p.Leu8751=) c.24693C>T (p.Leu8231=) c.24186C>T (p.Leu8062=) c.19653C>T (p.Leu6551=) c.26391C>T (p.Leu8797=) c.26340C>T (p.Leu8780=) c.26304C>T (p.Leu8768=) c.26151C>T (p.Leu8717=) | |
6 | g.152122559G>C | CA452969704 | ESR1,SYNE1 | c.2805C>G (p.Leu935=) c.26271C>G (p.Leu8757=) c.26127C>G (p.Leu8709=) c.1614C>G c.1989C>G c.1856C>G c.2121C>G (n.2121C>G) c.25056C>G (p.Leu8352=) n.3019C>G c.5047C>G (n.5047C>G) n.9963C>G c.4150C>G (n.4150C>G) n.9855C>G c.851-2707G>C (n.851-2707G>C) n.2885C>G n.6908C>G c.2736C>G (p.Leu912=) c.26418C>G (p.Leu8806=) c.26406C>G (p.Leu8802=) c.26397C>G (p.Leu8799=) c.26376C>G (p.Leu8792=) c.26367C>G (p.Leu8789=) c.26361C>G (p.Leu8787=) c.26349C>G (p.Leu8783=) c.26346C>G (p.Leu8782=) c.26307C>G (p.Leu8769=) c.26292C>G (p.Leu8764=) c.26277C>G (p.Leu8759=) c.26265C>G (p.Leu8755=) c.26262C>G (p.Leu8754=) c.26259C>G (p.Leu8753=) c.*82C>G (n.*82C>G) c.26415C>G (p.Leu8805=) c.26403C>G (p.Leu8801=) c.26253C>G (p.Leu8751=) c.24693C>G (p.Leu8231=) c.24186C>G (p.Leu8062=) c.19653C>G (p.Leu6551=) c.26391C>G (p.Leu8797=) c.26340C>G (p.Leu8780=) c.26304C>G (p.Leu8768=) c.26151C>G (p.Leu8717=) | gnomAD v4 |
6 | g.152122559G>T | CA452969706 | ESR1,SYNE1 | c.2805C>A (p.Leu935=) c.26271C>A (p.Leu8757=) c.26127C>A (p.Leu8709=) c.1614C>A c.1989C>A c.1856C>A c.2121C>A (n.2121C>A) c.25056C>A (p.Leu8352=) n.3019C>A c.5047C>A (n.5047C>A) n.9963C>A c.4150C>A (n.4150C>A) n.9855C>A c.851-2707G>T (n.851-2707G>T) n.2885C>A n.6908C>A c.2736C>A (p.Leu912=) c.26418C>A (p.Leu8806=) c.26406C>A (p.Leu8802=) c.26397C>A (p.Leu8799=) c.26376C>A (p.Leu8792=) c.26367C>A (p.Leu8789=) c.26361C>A (p.Leu8787=) c.26349C>A (p.Leu8783=) c.26346C>A (p.Leu8782=) c.26307C>A (p.Leu8769=) c.26292C>A (p.Leu8764=) c.26277C>A (p.Leu8759=) c.26265C>A (p.Leu8755=) c.26262C>A (p.Leu8754=) c.26259C>A (p.Leu8753=) c.*82C>A (n.*82C>A) c.26415C>A (p.Leu8805=) c.26403C>A (p.Leu8801=) c.26253C>A (p.Leu8751=) c.24693C>A (p.Leu8231=) c.24186C>A (p.Leu8062=) c.19653C>A (p.Leu6551=) c.26391C>A (p.Leu8797=) c.26340C>A (p.Leu8780=) c.26304C>A (p.Leu8768=) c.26151C>A (p.Leu8717=) | |
6 | g.152122560A>C | CA366088880 | ESR1,SYNE1 | c.2804T>G (p.Leu935Arg) c.26270T>G (p.Leu8757Arg) c.26126T>G (p.Leu8709Arg) c.1613T>G c.1988T>G c.1855T>G c.2120T>G (n.2120T>G) c.25055T>G (p.Leu8352Arg) n.3018T>G c.5046T>G (n.5046T>G) n.9962T>G c.4149T>G (n.4149T>G) n.9854T>G c.851-2706A>C (n.851-2706A>C) n.2884T>G n.6907T>G c.2735T>G (p.Leu912Arg) c.26417T>G (p.Leu8806Arg) c.26405T>G (p.Leu8802Arg) c.26396T>G (p.Leu8799Arg) c.26375T>G (p.Leu8792Arg) c.26366T>G (p.Leu8789Arg) c.26360T>G (p.Leu8787Arg) c.26348T>G (p.Leu8783Arg) c.26345T>G (p.Leu8782Arg) c.26306T>G (p.Leu8769Arg) c.26291T>G (p.Leu8764Arg) c.26276T>G (p.Leu8759Arg) c.26264T>G (p.Leu8755Arg) c.26261T>G (p.Leu8754Arg) c.26258T>G (p.Leu8753Arg) c.*81T>G (n.*81T>G) c.26414T>G (p.Leu8805Arg) c.26402T>G (p.Leu8801Arg) c.26252T>G (p.Leu8751Arg) c.24692T>G (p.Leu8231Arg) c.24185T>G (p.Leu8062Arg) c.19652T>G (p.Leu6551Arg) c.26390T>G (p.Leu8797Arg) c.26339T>G (p.Leu8780Arg) c.26303T>G (p.Leu8768Arg) c.26150T>G (p.Leu8717Arg) | |
6 | g.152122560A>G | CA366088884 | ESR1,SYNE1 | c.2804T>C (p.Leu935Pro) c.26270T>C (p.Leu8757Pro) c.26126T>C (p.Leu8709Pro) c.1613T>C c.1988T>C c.1855T>C c.2120T>C (n.2120T>C) c.25055T>C (p.Leu8352Pro) n.3018T>C c.5046T>C (n.5046T>C) n.9962T>C c.4149T>C (n.4149T>C) n.9854T>C c.851-2706A>G (n.851-2706A>G) n.2884T>C n.6907T>C c.2735T>C (p.Leu912Pro) c.26417T>C (p.Leu8806Pro) c.26405T>C (p.Leu8802Pro) c.26396T>C (p.Leu8799Pro) c.26375T>C (p.Leu8792Pro) c.26366T>C (p.Leu8789Pro) c.26360T>C (p.Leu8787Pro) c.26348T>C (p.Leu8783Pro) c.26345T>C (p.Leu8782Pro) c.26306T>C (p.Leu8769Pro) c.26291T>C (p.Leu8764Pro) c.26276T>C (p.Leu8759Pro) c.26264T>C (p.Leu8755Pro) c.26261T>C (p.Leu8754Pro) c.26258T>C (p.Leu8753Pro) c.*81T>C (n.*81T>C) c.26414T>C (p.Leu8805Pro) c.26402T>C (p.Leu8801Pro) c.26252T>C (p.Leu8751Pro) c.24692T>C (p.Leu8231Pro) c.24185T>C (p.Leu8062Pro) c.19652T>C (p.Leu6551Pro) c.26390T>C (p.Leu8797Pro) c.26339T>C (p.Leu8780Pro) c.26303T>C (p.Leu8768Pro) c.26150T>C (p.Leu8717Pro) | |
6 | g.152122560A>T | CA366088881 | ESR1,SYNE1 | c.2804T>A (p.Leu935His) c.26270T>A (p.Leu8757His) c.26126T>A (p.Leu8709His) c.1613T>A c.1988T>A c.1855T>A c.2120T>A (n.2120T>A) c.25055T>A (p.Leu8352His) n.3018T>A c.5046T>A (n.5046T>A) n.9962T>A c.4149T>A (n.4149T>A) n.9854T>A c.851-2706A>T (n.851-2706A>T) n.2884T>A n.6907T>A c.2735T>A (p.Leu912His) c.26417T>A (p.Leu8806His) c.26405T>A (p.Leu8802His) c.26396T>A (p.Leu8799His) c.26375T>A (p.Leu8792His) c.26366T>A (p.Leu8789His) c.26360T>A (p.Leu8787His) c.26348T>A (p.Leu8783His) c.26345T>A (p.Leu8782His) c.26306T>A (p.Leu8769His) c.26291T>A (p.Leu8764His) c.26276T>A (p.Leu8759His) c.26264T>A (p.Leu8755His) c.26261T>A (p.Leu8754His) c.26258T>A (p.Leu8753His) c.*81T>A (n.*81T>A) c.26414T>A (p.Leu8805His) c.26402T>A (p.Leu8801His) c.26252T>A (p.Leu8751His) c.24692T>A (p.Leu8231His) c.24185T>A (p.Leu8062His) c.19652T>A (p.Leu6551His) c.26390T>A (p.Leu8797His) c.26339T>A (p.Leu8780His) c.26303T>A (p.Leu8768His) c.26150T>A (p.Leu8717His) | |
6 | g.152122561G>A | CA366088886 | ESR1,SYNE1 | c.2803C>T (p.Leu935Phe) c.26269C>T (p.Leu8757Phe) c.26125C>T (p.Leu8709Phe) c.1612C>T c.1987C>T c.1854C>T c.2119C>T (n.2119C>T) c.25054C>T (p.Leu8352Phe) n.3017C>T c.5045C>T (n.5045C>T) n.9961C>T c.4148C>T (n.4148C>T) n.9853C>T c.851-2705G>A (n.851-2705G>A) n.2883C>T n.6906C>T c.2734C>T (p.Leu912Phe) c.26416C>T (p.Leu8806Phe) c.26404C>T (p.Leu8802Phe) c.26395C>T (p.Leu8799Phe) c.26374C>T (p.Leu8792Phe) c.26365C>T (p.Leu8789Phe) c.26359C>T (p.Leu8787Phe) c.26347C>T (p.Leu8783Phe) c.26344C>T (p.Leu8782Phe) c.26305C>T (p.Leu8769Phe) c.26290C>T (p.Leu8764Phe) c.26275C>T (p.Leu8759Phe) c.26263C>T (p.Leu8755Phe) c.26260C>T (p.Leu8754Phe) c.26257C>T (p.Leu8753Phe) c.*80C>T (n.*80C>T) c.26413C>T (p.Leu8805Phe) c.26401C>T (p.Leu8801Phe) c.26251C>T (p.Leu8751Phe) c.24691C>T (p.Leu8231Phe) c.24184C>T (p.Leu8062Phe) c.19651C>T (p.Leu6551Phe) c.26389C>T (p.Leu8797Phe) c.26338C>T (p.Leu8780Phe) c.26302C>T (p.Leu8768Phe) c.26149C>T (p.Leu8717Phe) | |
6 | g.152122561G>C | CA366088888 | ESR1,SYNE1 | c.2803C>G (p.Leu935Val) c.26269C>G (p.Leu8757Val) c.26125C>G (p.Leu8709Val) c.1612C>G c.1987C>G c.1854C>G c.2119C>G (n.2119C>G) c.25054C>G (p.Leu8352Val) n.3017C>G c.5045C>G (n.5045C>G) n.9961C>G c.4148C>G (n.4148C>G) n.9853C>G c.851-2705G>C (n.851-2705G>C) n.2883C>G n.6906C>G c.2734C>G (p.Leu912Val) c.26416C>G (p.Leu8806Val) c.26404C>G (p.Leu8802Val) c.26395C>G (p.Leu8799Val) c.26374C>G (p.Leu8792Val) c.26365C>G (p.Leu8789Val) c.26359C>G (p.Leu8787Val) c.26347C>G (p.Leu8783Val) c.26344C>G (p.Leu8782Val) c.26305C>G (p.Leu8769Val) c.26290C>G (p.Leu8764Val) c.26275C>G (p.Leu8759Val) c.26263C>G (p.Leu8755Val) c.26260C>G (p.Leu8754Val) c.26257C>G (p.Leu8753Val) c.*80C>G (n.*80C>G) c.26413C>G (p.Leu8805Val) c.26401C>G (p.Leu8801Val) c.26251C>G (p.Leu8751Val) c.24691C>G (p.Leu8231Val) c.24184C>G (p.Leu8062Val) c.19651C>G (p.Leu6551Val) c.26389C>G (p.Leu8797Val) c.26338C>G (p.Leu8780Val) c.26302C>G (p.Leu8768Val) c.26149C>G (p.Leu8717Val) | |
6 | g.152122561G>T | CA366088889 | ESR1,SYNE1 | c.2803C>A (p.Leu935Ile) c.26269C>A (p.Leu8757Ile) c.26125C>A (p.Leu8709Ile) c.1612C>A c.1987C>A c.1854C>A c.2119C>A (n.2119C>A) c.25054C>A (p.Leu8352Ile) n.3017C>A c.5045C>A (n.5045C>A) n.9961C>A c.4148C>A (n.4148C>A) n.9853C>A c.851-2705G>T (n.851-2705G>T) n.2883C>A n.6906C>A c.2734C>A (p.Leu912Ile) c.26416C>A (p.Leu8806Ile) c.26404C>A (p.Leu8802Ile) c.26395C>A (p.Leu8799Ile) c.26374C>A (p.Leu8792Ile) c.26365C>A (p.Leu8789Ile) c.26359C>A (p.Leu8787Ile) c.26347C>A (p.Leu8783Ile) c.26344C>A (p.Leu8782Ile) c.26305C>A (p.Leu8769Ile) c.26290C>A (p.Leu8764Ile) c.26275C>A (p.Leu8759Ile) c.26263C>A (p.Leu8755Ile) c.26260C>A (p.Leu8754Ile) c.26257C>A (p.Leu8753Ile) c.*80C>A (n.*80C>A) c.26413C>A (p.Leu8805Ile) c.26401C>A (p.Leu8801Ile) c.26251C>A (p.Leu8751Ile) c.24691C>A (p.Leu8231Ile) c.24184C>A (p.Leu8062Ile) c.19651C>A (p.Leu6551Ile) c.26389C>A (p.Leu8797Ile) c.26338C>A (p.Leu8780Ile) c.26302C>A (p.Leu8768Ile) c.26149C>A (p.Leu8717Ile) | gnomAD v4 |
6 | g.152122562G>A | CA4052597 | ESR1,SYNE1 | c.2802C>T (p.Leu934=) c.26268C>T (p.Leu8756=) c.26124C>T (p.Leu8708=) c.1611C>T c.1986C>T c.1853C>T c.2118C>T (n.2118C>T) c.25053C>T (p.Leu8351=) n.3016C>T c.5044C>T (n.5044C>T) n.9960C>T c.4147C>T (n.4147C>T) n.9852C>T c.851-2704G>A (n.851-2704G>A) n.2882C>T n.6905C>T c.2733C>T (p.Leu911=) c.26415C>T (p.Leu8805=) c.26403C>T (p.Leu8801=) c.26394C>T (p.Leu8798=) c.26373C>T (p.Leu8791=) c.26364C>T (p.Leu8788=) c.26358C>T (p.Leu8786=) c.26346C>T (p.Leu8782=) c.26343C>T (p.Leu8781=) c.26304C>T (p.Leu8768=) c.26289C>T (p.Leu8763=) c.26274C>T (p.Leu8758=) c.26262C>T (p.Leu8754=) c.26259C>T (p.Leu8753=) c.26256C>T (p.Leu8752=) c.*79C>T (n.*79C>T) c.26412C>T (p.Leu8804=) c.26400C>T (p.Leu8800=) c.26250C>T (p.Leu8750=) c.24690C>T (p.Leu8230=) c.24183C>T (p.Leu8061=) c.19650C>T (p.Leu6550=) c.26388C>T (p.Leu8796=) c.26337C>T (p.Leu8779=) c.26301C>T (p.Leu8767=) c.26148C>T (p.Leu8716=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122562G>C | CA452969707 | ESR1,SYNE1 | c.2802C>G (p.Leu934=) c.26268C>G (p.Leu8756=) c.26124C>G (p.Leu8708=) c.1611C>G c.1986C>G c.1853C>G c.2118C>G (n.2118C>G) c.25053C>G (p.Leu8351=) n.3016C>G c.5044C>G (n.5044C>G) n.9960C>G c.4147C>G (n.4147C>G) n.9852C>G c.851-2704G>C (n.851-2704G>C) n.2882C>G n.6905C>G c.2733C>G (p.Leu911=) c.26415C>G (p.Leu8805=) c.26403C>G (p.Leu8801=) c.26394C>G (p.Leu8798=) c.26373C>G (p.Leu8791=) c.26364C>G (p.Leu8788=) c.26358C>G (p.Leu8786=) c.26346C>G (p.Leu8782=) c.26343C>G (p.Leu8781=) c.26304C>G (p.Leu8768=) c.26289C>G (p.Leu8763=) c.26274C>G (p.Leu8758=) c.26262C>G (p.Leu8754=) c.26259C>G (p.Leu8753=) c.26256C>G (p.Leu8752=) c.*79C>G (n.*79C>G) c.26412C>G (p.Leu8804=) c.26400C>G (p.Leu8800=) c.26250C>G (p.Leu8750=) c.24690C>G (p.Leu8230=) c.24183C>G (p.Leu8061=) c.19650C>G (p.Leu6550=) c.26388C>G (p.Leu8796=) c.26337C>G (p.Leu8779=) c.26301C>G (p.Leu8767=) c.26148C>G (p.Leu8716=) | |
6 | g.152122562G= | CA1673189014 | ESR1,SYNE1 | c.2802C= (p.Leu934=) c.26268C= (p.Leu8756=) c.26124C= (p.Leu8708=) c.1611C= c.1986C= c.1853C= c.2118C= (n.2118C=) c.25053C= (p.Leu8351=) n.3016C= c.5044C= (n.5044C=) n.9960C= c.4147C= (n.4147C=) n.9852C= c.851-2704G= (n.851-2704G=) n.2882C= n.6905C= c.2733C= (p.Leu911=) c.26415C= (p.Leu8805=) c.26403C= (p.Leu8801=) c.26394C= (p.Leu8798=) c.26373C= (p.Leu8791=) c.26364C= (p.Leu8788=) c.26358C= (p.Leu8786=) c.26346C= (p.Leu8782=) c.26343C= (p.Leu8781=) c.26304C= (p.Leu8768=) c.26289C= (p.Leu8763=) c.26274C= (p.Leu8758=) c.26262C= (p.Leu8754=) c.26259C= (p.Leu8753=) c.26256C= (p.Leu8752=) c.*79C= (n.*79C=) c.26412C= (p.Leu8804=) c.26400C= (p.Leu8800=) c.26250C= (p.Leu8750=) c.24690C= (p.Leu8230=) c.24183C= (p.Leu8061=) c.19650C= (p.Leu6550=) c.26388C= (p.Leu8796=) c.26337C= (p.Leu8779=) c.26301C= (p.Leu8767=) c.26148C= (p.Leu8716=) | |
6 | g.152122562G>T | CA452969708 | ESR1,SYNE1 | c.2802C>A (p.Leu934=) c.26268C>A (p.Leu8756=) c.26124C>A (p.Leu8708=) c.1611C>A c.1986C>A c.1853C>A c.2118C>A (n.2118C>A) c.25053C>A (p.Leu8351=) n.3016C>A c.5044C>A (n.5044C>A) n.9960C>A c.4147C>A (n.4147C>A) n.9852C>A c.851-2704G>T (n.851-2704G>T) n.2882C>A n.6905C>A c.2733C>A (p.Leu911=) c.26415C>A (p.Leu8805=) c.26403C>A (p.Leu8801=) c.26394C>A (p.Leu8798=) c.26373C>A (p.Leu8791=) c.26364C>A (p.Leu8788=) c.26358C>A (p.Leu8786=) c.26346C>A (p.Leu8782=) c.26343C>A (p.Leu8781=) c.26304C>A (p.Leu8768=) c.26289C>A (p.Leu8763=) c.26274C>A (p.Leu8758=) c.26262C>A (p.Leu8754=) c.26259C>A (p.Leu8753=) c.26256C>A (p.Leu8752=) c.*79C>A (n.*79C>A) c.26412C>A (p.Leu8804=) c.26400C>A (p.Leu8800=) c.26250C>A (p.Leu8750=) c.24690C>A (p.Leu8230=) c.24183C>A (p.Leu8061=) c.19650C>A (p.Leu6550=) c.26388C>A (p.Leu8796=) c.26337C>A (p.Leu8779=) c.26301C>A (p.Leu8767=) c.26148C>A (p.Leu8716=) | |
6 | g.152122563A>C | CA366088892 | ESR1,SYNE1 | c.2801T>G (p.Leu934Arg) c.26267T>G (p.Leu8756Arg) c.26123T>G (p.Leu8708Arg) c.1610T>G c.1985T>G c.1852T>G c.2117T>G (n.2117T>G) c.25052T>G (p.Leu8351Arg) n.3015T>G c.5043T>G (n.5043T>G) n.9959T>G c.4146T>G (n.4146T>G) n.9851T>G c.851-2703A>C (n.851-2703A>C) n.2881T>G n.6904T>G c.2732T>G (p.Leu911Arg) c.26414T>G (p.Leu8805Arg) c.26402T>G (p.Leu8801Arg) c.26393T>G (p.Leu8798Arg) c.26372T>G (p.Leu8791Arg) c.26363T>G (p.Leu8788Arg) c.26357T>G (p.Leu8786Arg) c.26345T>G (p.Leu8782Arg) c.26342T>G (p.Leu8781Arg) c.26303T>G (p.Leu8768Arg) c.26288T>G (p.Leu8763Arg) c.26273T>G (p.Leu8758Arg) c.26261T>G (p.Leu8754Arg) c.26258T>G (p.Leu8753Arg) c.26255T>G (p.Leu8752Arg) c.*78T>G (n.*78T>G) c.26411T>G (p.Leu8804Arg) c.26399T>G (p.Leu8800Arg) c.26249T>G (p.Leu8750Arg) c.24689T>G (p.Leu8230Arg) c.24182T>G (p.Leu8061Arg) c.19649T>G (p.Leu6550Arg) c.26387T>G (p.Leu8796Arg) c.26336T>G (p.Leu8779Arg) c.26300T>G (p.Leu8767Arg) c.26147T>G (p.Leu8716Arg) | |
6 | g.152122563A>G | CA366088894 | ESR1,SYNE1 | c.2801T>C (p.Leu934Pro) c.26267T>C (p.Leu8756Pro) c.26123T>C (p.Leu8708Pro) c.1610T>C c.1985T>C c.1852T>C c.2117T>C (n.2117T>C) c.25052T>C (p.Leu8351Pro) n.3015T>C c.5043T>C (n.5043T>C) n.9959T>C c.4146T>C (n.4146T>C) n.9851T>C c.851-2703A>G (n.851-2703A>G) n.2881T>C n.6904T>C c.2732T>C (p.Leu911Pro) c.26414T>C (p.Leu8805Pro) c.26402T>C (p.Leu8801Pro) c.26393T>C (p.Leu8798Pro) c.26372T>C (p.Leu8791Pro) c.26363T>C (p.Leu8788Pro) c.26357T>C (p.Leu8786Pro) c.26345T>C (p.Leu8782Pro) c.26342T>C (p.Leu8781Pro) c.26303T>C (p.Leu8768Pro) c.26288T>C (p.Leu8763Pro) c.26273T>C (p.Leu8758Pro) c.26261T>C (p.Leu8754Pro) c.26258T>C (p.Leu8753Pro) c.26255T>C (p.Leu8752Pro) c.*78T>C (n.*78T>C) c.26411T>C (p.Leu8804Pro) c.26399T>C (p.Leu8800Pro) c.26249T>C (p.Leu8750Pro) c.24689T>C (p.Leu8230Pro) c.24182T>C (p.Leu8061Pro) c.19649T>C (p.Leu6550Pro) c.26387T>C (p.Leu8796Pro) c.26336T>C (p.Leu8779Pro) c.26300T>C (p.Leu8767Pro) c.26147T>C (p.Leu8716Pro) | ClinVar |
6 | g.152122563A>T | CA366088896 | ESR1,SYNE1 | c.2801T>A (p.Leu934His) c.26267T>A (p.Leu8756His) c.26123T>A (p.Leu8708His) c.1610T>A c.1985T>A c.1852T>A c.2117T>A (n.2117T>A) c.25052T>A (p.Leu8351His) n.3015T>A c.5043T>A (n.5043T>A) n.9959T>A c.4146T>A (n.4146T>A) n.9851T>A c.851-2703A>T (n.851-2703A>T) n.2881T>A n.6904T>A c.2732T>A (p.Leu911His) c.26414T>A (p.Leu8805His) c.26402T>A (p.Leu8801His) c.26393T>A (p.Leu8798His) c.26372T>A (p.Leu8791His) c.26363T>A (p.Leu8788His) c.26357T>A (p.Leu8786His) c.26345T>A (p.Leu8782His) c.26342T>A (p.Leu8781His) c.26303T>A (p.Leu8768His) c.26288T>A (p.Leu8763His) c.26273T>A (p.Leu8758His) c.26261T>A (p.Leu8754His) c.26258T>A (p.Leu8753His) c.26255T>A (p.Leu8752His) c.*78T>A (n.*78T>A) c.26411T>A (p.Leu8804His) c.26399T>A (p.Leu8800His) c.26249T>A (p.Leu8750His) c.24689T>A (p.Leu8230His) c.24182T>A (p.Leu8061His) c.19649T>A (p.Leu6550His) c.26387T>A (p.Leu8796His) c.26336T>A (p.Leu8779His) c.26300T>A (p.Leu8767His) c.26147T>A (p.Leu8716His) | |
6 | g.152122564G>A | CA366088898 | ESR1,SYNE1 | c.2800C>T (p.Leu934Phe) c.26266C>T (p.Leu8756Phe) c.26122C>T (p.Leu8708Phe) c.1609C>T c.1984C>T c.1851C>T c.2116C>T (n.2116C>T) c.25051C>T (p.Leu8351Phe) n.3014C>T c.5042C>T (n.5042C>T) n.9958C>T c.4145C>T (n.4145C>T) n.9850C>T c.851-2702G>A (n.851-2702G>A) n.2880C>T n.6903C>T c.2731C>T (p.Leu911Phe) c.26413C>T (p.Leu8805Phe) c.26401C>T (p.Leu8801Phe) c.26392C>T (p.Leu8798Phe) c.26371C>T (p.Leu8791Phe) c.26362C>T (p.Leu8788Phe) c.26356C>T (p.Leu8786Phe) c.26344C>T (p.Leu8782Phe) c.26341C>T (p.Leu8781Phe) c.26302C>T (p.Leu8768Phe) c.26287C>T (p.Leu8763Phe) c.26272C>T (p.Leu8758Phe) c.26260C>T (p.Leu8754Phe) c.26257C>T (p.Leu8753Phe) c.26254C>T (p.Leu8752Phe) c.*77C>T (n.*77C>T) c.26410C>T (p.Leu8804Phe) c.26398C>T (p.Leu8800Phe) c.26248C>T (p.Leu8750Phe) c.24688C>T (p.Leu8230Phe) c.24181C>T (p.Leu8061Phe) c.19648C>T (p.Leu6550Phe) c.26386C>T (p.Leu8796Phe) c.26335C>T (p.Leu8779Phe) c.26299C>T (p.Leu8767Phe) c.26146C>T (p.Leu8716Phe) | |
6 | g.152122564G>C | CA366088900 | ESR1,SYNE1 | c.2800C>G (p.Leu934Val) c.26266C>G (p.Leu8756Val) c.26122C>G (p.Leu8708Val) c.1609C>G c.1984C>G c.1851C>G c.2116C>G (n.2116C>G) c.25051C>G (p.Leu8351Val) n.3014C>G c.5042C>G (n.5042C>G) n.9958C>G c.4145C>G (n.4145C>G) n.9850C>G c.851-2702G>C (n.851-2702G>C) n.2880C>G n.6903C>G c.2731C>G (p.Leu911Val) c.26413C>G (p.Leu8805Val) c.26401C>G (p.Leu8801Val) c.26392C>G (p.Leu8798Val) c.26371C>G (p.Leu8791Val) c.26362C>G (p.Leu8788Val) c.26356C>G (p.Leu8786Val) c.26344C>G (p.Leu8782Val) c.26341C>G (p.Leu8781Val) c.26302C>G (p.Leu8768Val) c.26287C>G (p.Leu8763Val) c.26272C>G (p.Leu8758Val) c.26260C>G (p.Leu8754Val) c.26257C>G (p.Leu8753Val) c.26254C>G (p.Leu8752Val) c.*77C>G (n.*77C>G) c.26410C>G (p.Leu8804Val) c.26398C>G (p.Leu8800Val) c.26248C>G (p.Leu8750Val) c.24688C>G (p.Leu8230Val) c.24181C>G (p.Leu8061Val) c.19648C>G (p.Leu6550Val) c.26386C>G (p.Leu8796Val) c.26335C>G (p.Leu8779Val) c.26299C>G (p.Leu8767Val) c.26146C>G (p.Leu8716Val) | |
6 | g.152122564G>T | CA366088902 | ESR1,SYNE1 | c.2800C>A (p.Leu934Ile) c.26266C>A (p.Leu8756Ile) c.26122C>A (p.Leu8708Ile) c.1609C>A c.1984C>A c.1851C>A c.2116C>A (n.2116C>A) c.25051C>A (p.Leu8351Ile) n.3014C>A c.5042C>A (n.5042C>A) n.9958C>A c.4145C>A (n.4145C>A) n.9850C>A c.851-2702G>T (n.851-2702G>T) n.2880C>A n.6903C>A c.2731C>A (p.Leu911Ile) c.26413C>A (p.Leu8805Ile) c.26401C>A (p.Leu8801Ile) c.26392C>A (p.Leu8798Ile) c.26371C>A (p.Leu8791Ile) c.26362C>A (p.Leu8788Ile) c.26356C>A (p.Leu8786Ile) c.26344C>A (p.Leu8782Ile) c.26341C>A (p.Leu8781Ile) c.26302C>A (p.Leu8768Ile) c.26287C>A (p.Leu8763Ile) c.26272C>A (p.Leu8758Ile) c.26260C>A (p.Leu8754Ile) c.26257C>A (p.Leu8753Ile) c.26254C>A (p.Leu8752Ile) c.*77C>A (n.*77C>A) c.26410C>A (p.Leu8804Ile) c.26398C>A (p.Leu8800Ile) c.26248C>A (p.Leu8750Ile) c.24688C>A (p.Leu8230Ile) c.24181C>A (p.Leu8061Ile) c.19648C>A (p.Leu6550Ile) c.26386C>A (p.Leu8796Ile) c.26335C>A (p.Leu8779Ile) c.26299C>A (p.Leu8767Ile) c.26146C>A (p.Leu8716Ile) | |
6 | g.152122565C>A | CA452969710 | ESR1,SYNE1 | c.2799G>T (p.Leu933=) c.26265G>T (p.Leu8755=) c.26121G>T (p.Leu8707=) c.1608G>T c.1983G>T c.1850G>T c.2115G>T (n.2115G>T) c.25050G>T (p.Leu8350=) n.3013G>T c.5041G>T (n.5041G>T) n.9957G>T c.4144G>T (n.4144G>T) n.9849G>T c.851-2701C>A (n.851-2701C>A) n.2879G>T n.6902G>T c.2730G>T (p.Leu910=) c.26412G>T (p.Leu8804=) c.26400G>T (p.Leu8800=) c.26391G>T (p.Leu8797=) c.26370G>T (p.Leu8790=) c.26361G>T (p.Leu8787=) c.26355G>T (p.Leu8785=) c.26343G>T (p.Leu8781=) c.26340G>T (p.Leu8780=) c.26301G>T (p.Leu8767=) c.26286G>T (p.Leu8762=) c.26271G>T (p.Leu8757=) c.26259G>T (p.Leu8753=) c.26256G>T (p.Leu8752=) c.26253G>T (p.Leu8751=) c.*76G>T (n.*76G>T) c.26409G>T (p.Leu8803=) c.26397G>T (p.Leu8799=) c.26247G>T (p.Leu8749=) c.24687G>T (p.Leu8229=) c.24180G>T (p.Leu8060=) c.19647G>T (p.Leu6549=) c.26385G>T (p.Leu8795=) c.26334G>T (p.Leu8778=) c.26298G>T (p.Leu8766=) c.26145G>T (p.Leu8715=) | |
6 | g.152122565C>G | CA452969712 | ESR1,SYNE1 | c.2799G>C (p.Leu933=) c.26265G>C (p.Leu8755=) c.26121G>C (p.Leu8707=) c.1608G>C c.1983G>C c.1850G>C c.2115G>C (n.2115G>C) c.25050G>C (p.Leu8350=) n.3013G>C c.5041G>C (n.5041G>C) n.9957G>C c.4144G>C (n.4144G>C) n.9849G>C c.851-2701C>G (n.851-2701C>G) n.2879G>C n.6902G>C c.2730G>C (p.Leu910=) c.26412G>C (p.Leu8804=) c.26400G>C (p.Leu8800=) c.26391G>C (p.Leu8797=) c.26370G>C (p.Leu8790=) c.26361G>C (p.Leu8787=) c.26355G>C (p.Leu8785=) c.26343G>C (p.Leu8781=) c.26340G>C (p.Leu8780=) c.26301G>C (p.Leu8767=) c.26286G>C (p.Leu8762=) c.26271G>C (p.Leu8757=) c.26259G>C (p.Leu8753=) c.26256G>C (p.Leu8752=) c.26253G>C (p.Leu8751=) c.*76G>C (n.*76G>C) c.26409G>C (p.Leu8803=) c.26397G>C (p.Leu8799=) c.26247G>C (p.Leu8749=) c.24687G>C (p.Leu8229=) c.24180G>C (p.Leu8060=) c.19647G>C (p.Leu6549=) c.26385G>C (p.Leu8795=) c.26334G>C (p.Leu8778=) c.26298G>C (p.Leu8766=) c.26145G>C (p.Leu8715=) | |
6 | g.152122565C>T | CA452969711 | ESR1,SYNE1 | c.2799G>A (p.Leu933=) c.26265G>A (p.Leu8755=) c.26121G>A (p.Leu8707=) c.1608G>A c.1983G>A c.1850G>A c.2115G>A (n.2115G>A) c.25050G>A (p.Leu8350=) n.3013G>A c.5041G>A (n.5041G>A) n.9957G>A c.4144G>A (n.4144G>A) n.9849G>A c.851-2701C>T (n.851-2701C>T) n.2879G>A n.6902G>A c.2730G>A (p.Leu910=) c.26412G>A (p.Leu8804=) c.26400G>A (p.Leu8800=) c.26391G>A (p.Leu8797=) c.26370G>A (p.Leu8790=) c.26361G>A (p.Leu8787=) c.26355G>A (p.Leu8785=) c.26343G>A (p.Leu8781=) c.26340G>A (p.Leu8780=) c.26301G>A (p.Leu8767=) c.26286G>A (p.Leu8762=) c.26271G>A (p.Leu8757=) c.26259G>A (p.Leu8753=) c.26256G>A (p.Leu8752=) c.26253G>A (p.Leu8751=) c.*76G>A (n.*76G>A) c.26409G>A (p.Leu8803=) c.26397G>A (p.Leu8799=) c.26247G>A (p.Leu8749=) c.24687G>A (p.Leu8229=) c.24180G>A (p.Leu8060=) c.19647G>A (p.Leu6549=) c.26385G>A (p.Leu8795=) c.26334G>A (p.Leu8778=) c.26298G>A (p.Leu8766=) c.26145G>A (p.Leu8715=) | |
6 | g.152122566A>C | CA366088911 | ESR1,SYNE1 | c.2798T>G (p.Leu933Arg) c.26264T>G (p.Leu8755Arg) c.26120T>G (p.Leu8707Arg) c.1607T>G c.1982T>G c.1849T>G c.2114T>G (n.2114T>G) c.25049T>G (p.Leu8350Arg) n.3012T>G c.5040T>G (n.5040T>G) n.9956T>G c.4143T>G (n.4143T>G) n.9848T>G c.851-2700A>C (n.851-2700A>C) n.2878T>G n.6901T>G c.2729T>G (p.Leu910Arg) c.26411T>G (p.Leu8804Arg) c.26399T>G (p.Leu8800Arg) c.26390T>G (p.Leu8797Arg) c.26369T>G (p.Leu8790Arg) c.26360T>G (p.Leu8787Arg) c.26354T>G (p.Leu8785Arg) c.26342T>G (p.Leu8781Arg) c.26339T>G (p.Leu8780Arg) c.26300T>G (p.Leu8767Arg) c.26285T>G (p.Leu8762Arg) c.26270T>G (p.Leu8757Arg) c.26258T>G (p.Leu8753Arg) c.26255T>G (p.Leu8752Arg) c.26252T>G (p.Leu8751Arg) c.*75T>G (n.*75T>G) c.26408T>G (p.Leu8803Arg) c.26396T>G (p.Leu8799Arg) c.26246T>G (p.Leu8749Arg) c.24686T>G (p.Leu8229Arg) c.24179T>G (p.Leu8060Arg) c.19646T>G (p.Leu6549Arg) c.26384T>G (p.Leu8795Arg) c.26333T>G (p.Leu8778Arg) c.26297T>G (p.Leu8766Arg) c.26144T>G (p.Leu8715Arg) | |
6 | g.152122566A>G | CA366088913 | ESR1,SYNE1 | c.2798T>C (p.Leu933Pro) c.26264T>C (p.Leu8755Pro) c.26120T>C (p.Leu8707Pro) c.1607T>C c.1982T>C c.1849T>C c.2114T>C (n.2114T>C) c.25049T>C (p.Leu8350Pro) n.3012T>C c.5040T>C (n.5040T>C) n.9956T>C c.4143T>C (n.4143T>C) n.9848T>C c.851-2700A>G (n.851-2700A>G) n.2878T>C n.6901T>C c.2729T>C (p.Leu910Pro) c.26411T>C (p.Leu8804Pro) c.26399T>C (p.Leu8800Pro) c.26390T>C (p.Leu8797Pro) c.26369T>C (p.Leu8790Pro) c.26360T>C (p.Leu8787Pro) c.26354T>C (p.Leu8785Pro) c.26342T>C (p.Leu8781Pro) c.26339T>C (p.Leu8780Pro) c.26300T>C (p.Leu8767Pro) c.26285T>C (p.Leu8762Pro) c.26270T>C (p.Leu8757Pro) c.26258T>C (p.Leu8753Pro) c.26255T>C (p.Leu8752Pro) c.26252T>C (p.Leu8751Pro) c.*75T>C (n.*75T>C) c.26408T>C (p.Leu8803Pro) c.26396T>C (p.Leu8799Pro) c.26246T>C (p.Leu8749Pro) c.24686T>C (p.Leu8229Pro) c.24179T>C (p.Leu8060Pro) c.19646T>C (p.Leu6549Pro) c.26384T>C (p.Leu8795Pro) c.26333T>C (p.Leu8778Pro) c.26297T>C (p.Leu8766Pro) c.26144T>C (p.Leu8715Pro) | |
6 | g.152122566A>T | CA366088909 | ESR1,SYNE1 | c.2798T>A (p.Leu933Gln) c.26264T>A (p.Leu8755Gln) c.26120T>A (p.Leu8707Gln) c.1607T>A c.1982T>A c.1849T>A c.2114T>A (n.2114T>A) c.25049T>A (p.Leu8350Gln) n.3012T>A c.5040T>A (n.5040T>A) n.9956T>A c.4143T>A (n.4143T>A) n.9848T>A c.851-2700A>T (n.851-2700A>T) n.2878T>A n.6901T>A c.2729T>A (p.Leu910Gln) c.26411T>A (p.Leu8804Gln) c.26399T>A (p.Leu8800Gln) c.26390T>A (p.Leu8797Gln) c.26369T>A (p.Leu8790Gln) c.26360T>A (p.Leu8787Gln) c.26354T>A (p.Leu8785Gln) c.26342T>A (p.Leu8781Gln) c.26339T>A (p.Leu8780Gln) c.26300T>A (p.Leu8767Gln) c.26285T>A (p.Leu8762Gln) c.26270T>A (p.Leu8757Gln) c.26258T>A (p.Leu8753Gln) c.26255T>A (p.Leu8752Gln) c.26252T>A (p.Leu8751Gln) c.*75T>A (n.*75T>A) c.26408T>A (p.Leu8803Gln) c.26396T>A (p.Leu8799Gln) c.26246T>A (p.Leu8749Gln) c.24686T>A (p.Leu8229Gln) c.24179T>A (p.Leu8060Gln) c.19646T>A (p.Leu6549Gln) c.26384T>A (p.Leu8795Gln) c.26333T>A (p.Leu8778Gln) c.26297T>A (p.Leu8766Gln) c.26144T>A (p.Leu8715Gln) | |
6 | g.152122568_152122570del | CA2680809429 | ESR1,SYNE1 | c.2796_2798del (p.Leu933del) c.26262_26264del (p.Leu8755del) c.26118_26120del (p.Leu8707del) c.1605_1607del c.1980_1982del c.1847_1849del c.2112_2114del (n.2112_2114del) c.25047_25049del (p.Leu8350del) n.3010_3012del c.5038_5040del (n.5038_5040del) n.9954_9956del c.4141_4143del (n.4141_4143del) n.9846_9848del c.851-2698_851-2696del (n.851-2698_851-2696del) n.2876_2878del n.6899_6901del c.2727_2729del (p.Leu910del) c.26409_26411del (p.Leu8804del) c.26397_26399del (p.Leu8800del) c.26388_26390del (p.Leu8797del) c.26367_26369del (p.Leu8790del) c.26358_26360del (p.Leu8787del) c.26352_26354del (p.Leu8785del) c.26340_26342del (p.Leu8781del) c.26337_26339del (p.Leu8780del) c.26298_26300del (p.Leu8767del) c.26283_26285del (p.Leu8762del) c.26268_26270del (p.Leu8757del) c.26256_26258del (p.Leu8753del) c.26253_26255del (p.Leu8752del) c.26250_26252del (p.Leu8751del) c.*73_*75del (n.*73_*75del) c.26406_26408del (p.Leu8803del) c.26394_26396del (p.Leu8799del) c.26244_26246del (p.Leu8749del) c.24684_24686del (p.Leu8229del) c.24177_24179del (p.Leu8060del) c.19644_19646del (p.Leu6549del) c.26382_26384del (p.Leu8795del) c.26331_26333del (p.Leu8778del) c.26295_26297del (p.Leu8766del) c.26142_26144del (p.Leu8715del) | gnomAD v4 |
6 | g.152122567G>A | CA452969716 | ESR1,SYNE1 | c.2797C>T (p.Leu933=) c.26263C>T (p.Leu8755=) c.26119C>T (p.Leu8707=) c.1606C>T c.1981C>T c.1848C>T c.2113C>T (n.2113C>T) c.25048C>T (p.Leu8350=) n.3011C>T c.5039C>T (n.5039C>T) n.9955C>T c.4142C>T (n.4142C>T) n.9847C>T c.851-2699G>A (n.851-2699G>A) n.2877C>T n.6900C>T c.2728C>T (p.Leu910=) c.26410C>T (p.Leu8804=) c.26398C>T (p.Leu8800=) c.26389C>T (p.Leu8797=) c.26368C>T (p.Leu8790=) c.26359C>T (p.Leu8787=) c.26353C>T (p.Leu8785=) c.26341C>T (p.Leu8781=) c.26338C>T (p.Leu8780=) c.26299C>T (p.Leu8767=) c.26284C>T (p.Leu8762=) c.26269C>T (p.Leu8757=) c.26257C>T (p.Leu8753=) c.26254C>T (p.Leu8752=) c.26251C>T (p.Leu8751=) c.*74C>T (n.*74C>T) c.26407C>T (p.Leu8803=) c.26395C>T (p.Leu8799=) c.26245C>T (p.Leu8749=) c.24685C>T (p.Leu8229=) c.24178C>T (p.Leu8060=) c.19645C>T (p.Leu6549=) c.26383C>T (p.Leu8795=) c.26332C>T (p.Leu8778=) c.26296C>T (p.Leu8766=) c.26143C>T (p.Leu8715=) | |
6 | g.152122567G>C | CA366088915 | ESR1,SYNE1 | c.2797C>G (p.Leu933Val) c.26263C>G (p.Leu8755Val) c.26119C>G (p.Leu8707Val) c.1606C>G c.1981C>G c.1848C>G c.2113C>G (n.2113C>G) c.25048C>G (p.Leu8350Val) n.3011C>G c.5039C>G (n.5039C>G) n.9955C>G c.4142C>G (n.4142C>G) n.9847C>G c.851-2699G>C (n.851-2699G>C) n.2877C>G n.6900C>G c.2728C>G (p.Leu910Val) c.26410C>G (p.Leu8804Val) c.26398C>G (p.Leu8800Val) c.26389C>G (p.Leu8797Val) c.26368C>G (p.Leu8790Val) c.26359C>G (p.Leu8787Val) c.26353C>G (p.Leu8785Val) c.26341C>G (p.Leu8781Val) c.26338C>G (p.Leu8780Val) c.26299C>G (p.Leu8767Val) c.26284C>G (p.Leu8762Val) c.26269C>G (p.Leu8757Val) c.26257C>G (p.Leu8753Val) c.26254C>G (p.Leu8752Val) c.26251C>G (p.Leu8751Val) c.*74C>G (n.*74C>G) c.26407C>G (p.Leu8803Val) c.26395C>G (p.Leu8799Val) c.26245C>G (p.Leu8749Val) c.24685C>G (p.Leu8229Val) c.24178C>G (p.Leu8060Val) c.19645C>G (p.Leu6549Val) c.26383C>G (p.Leu8795Val) c.26332C>G (p.Leu8778Val) c.26296C>G (p.Leu8766Val) c.26143C>G (p.Leu8715Val) | |
6 | g.152122567G>T | CA366088917 | ESR1,SYNE1 | c.2797C>A (p.Leu933Met) c.26263C>A (p.Leu8755Met) c.26119C>A (p.Leu8707Met) c.1606C>A c.1981C>A c.1848C>A c.2113C>A (n.2113C>A) c.25048C>A (p.Leu8350Met) n.3011C>A c.5039C>A (n.5039C>A) n.9955C>A c.4142C>A (n.4142C>A) n.9847C>A c.851-2699G>T (n.851-2699G>T) n.2877C>A n.6900C>A c.2728C>A (p.Leu910Met) c.26410C>A (p.Leu8804Met) c.26398C>A (p.Leu8800Met) c.26389C>A (p.Leu8797Met) c.26368C>A (p.Leu8790Met) c.26359C>A (p.Leu8787Met) c.26353C>A (p.Leu8785Met) c.26341C>A (p.Leu8781Met) c.26338C>A (p.Leu8780Met) c.26299C>A (p.Leu8767Met) c.26284C>A (p.Leu8762Met) c.26269C>A (p.Leu8757Met) c.26257C>A (p.Leu8753Met) c.26254C>A (p.Leu8752Met) c.26251C>A (p.Leu8751Met) c.*74C>A (n.*74C>A) c.26407C>A (p.Leu8803Met) c.26395C>A (p.Leu8799Met) c.26245C>A (p.Leu8749Met) c.24685C>A (p.Leu8229Met) c.24178C>A (p.Leu8060Met) c.19645C>A (p.Leu6549Met) c.26383C>A (p.Leu8795Met) c.26332C>A (p.Leu8778Met) c.26296C>A (p.Leu8766Met) c.26143C>A (p.Leu8715Met) | |
6 | g.152122568G>A | CA452969718 | ESR1,SYNE1 | c.2796C>T (p.Leu932=) c.26262C>T (p.Leu8754=) c.26118C>T (p.Leu8706=) c.1605C>T c.1980C>T c.1847C>T c.2112C>T (n.2112C>T) c.25047C>T (p.Leu8349=) n.3010C>T c.5038C>T (n.5038C>T) n.9954C>T c.4141C>T (n.4141C>T) n.9846C>T c.851-2698G>A (n.851-2698G>A) n.2876C>T n.6899C>T c.2727C>T (p.Leu909=) c.26409C>T (p.Leu8803=) c.26397C>T (p.Leu8799=) c.26388C>T (p.Leu8796=) c.26367C>T (p.Leu8789=) c.26358C>T (p.Leu8786=) c.26352C>T (p.Leu8784=) c.26340C>T (p.Leu8780=) c.26337C>T (p.Leu8779=) c.26298C>T (p.Leu8766=) c.26283C>T (p.Leu8761=) c.26268C>T (p.Leu8756=) c.26256C>T (p.Leu8752=) c.26253C>T (p.Leu8751=) c.26250C>T (p.Leu8750=) c.*73C>T (n.*73C>T) c.26406C>T (p.Leu8802=) c.26394C>T (p.Leu8798=) c.26244C>T (p.Leu8748=) c.24684C>T (p.Leu8228=) c.24177C>T (p.Leu8059=) c.19644C>T (p.Leu6548=) c.26382C>T (p.Leu8794=) c.26331C>T (p.Leu8777=) c.26295C>T (p.Leu8765=) c.26142C>T (p.Leu8714=) | |
6 | g.152122568G>C | CA452969719 | ESR1,SYNE1 | c.2796C>G (p.Leu932=) c.26262C>G (p.Leu8754=) c.26118C>G (p.Leu8706=) c.1605C>G c.1980C>G c.1847C>G c.2112C>G (n.2112C>G) c.25047C>G (p.Leu8349=) n.3010C>G c.5038C>G (n.5038C>G) n.9954C>G c.4141C>G (n.4141C>G) n.9846C>G c.851-2698G>C (n.851-2698G>C) n.2876C>G n.6899C>G c.2727C>G (p.Leu909=) c.26409C>G (p.Leu8803=) c.26397C>G (p.Leu8799=) c.26388C>G (p.Leu8796=) c.26367C>G (p.Leu8789=) c.26358C>G (p.Leu8786=) c.26352C>G (p.Leu8784=) c.26340C>G (p.Leu8780=) c.26337C>G (p.Leu8779=) c.26298C>G (p.Leu8766=) c.26283C>G (p.Leu8761=) c.26268C>G (p.Leu8756=) c.26256C>G (p.Leu8752=) c.26253C>G (p.Leu8751=) c.26250C>G (p.Leu8750=) c.*73C>G (n.*73C>G) c.26406C>G (p.Leu8802=) c.26394C>G (p.Leu8798=) c.26244C>G (p.Leu8748=) c.24684C>G (p.Leu8228=) c.24177C>G (p.Leu8059=) c.19644C>G (p.Leu6548=) c.26382C>G (p.Leu8794=) c.26331C>G (p.Leu8777=) c.26295C>G (p.Leu8765=) c.26142C>G (p.Leu8714=) | dbSNP gnomAD v4 |
6 | g.152122568G= | CA1673189019 | ESR1,SYNE1 | c.2796C= (p.Leu932=) c.26262C= (p.Leu8754=) c.26118C= (p.Leu8706=) c.1605C= c.1980C= c.1847C= c.2112C= (n.2112C=) c.25047C= (p.Leu8349=) n.3010C= c.5038C= (n.5038C=) n.9954C= c.4141C= (n.4141C=) n.9846C= c.851-2698G= (n.851-2698G=) n.2876C= n.6899C= c.2727C= (p.Leu909=) c.26409C= (p.Leu8803=) c.26397C= (p.Leu8799=) c.26388C= (p.Leu8796=) c.26367C= (p.Leu8789=) c.26358C= (p.Leu8786=) c.26352C= (p.Leu8784=) c.26340C= (p.Leu8780=) c.26337C= (p.Leu8779=) c.26298C= (p.Leu8766=) c.26283C= (p.Leu8761=) c.26268C= (p.Leu8756=) c.26256C= (p.Leu8752=) c.26253C= (p.Leu8751=) c.26250C= (p.Leu8750=) c.*73C= (n.*73C=) c.26406C= (p.Leu8802=) c.26394C= (p.Leu8798=) c.26244C= (p.Leu8748=) c.24684C= (p.Leu8228=) c.24177C= (p.Leu8059=) c.19644C= (p.Leu6548=) c.26382C= (p.Leu8794=) c.26331C= (p.Leu8777=) c.26295C= (p.Leu8765=) c.26142C= (p.Leu8714=) | |
6 | g.152122568G>T | CA452969720 | ESR1,SYNE1 | c.2796C>A (p.Leu932=) c.26262C>A (p.Leu8754=) c.26118C>A (p.Leu8706=) c.1605C>A c.1980C>A c.1847C>A c.2112C>A (n.2112C>A) c.25047C>A (p.Leu8349=) n.3010C>A c.5038C>A (n.5038C>A) n.9954C>A c.4141C>A (n.4141C>A) n.9846C>A c.851-2698G>T (n.851-2698G>T) n.2876C>A n.6899C>A c.2727C>A (p.Leu909=) c.26409C>A (p.Leu8803=) c.26397C>A (p.Leu8799=) c.26388C>A (p.Leu8796=) c.26367C>A (p.Leu8789=) c.26358C>A (p.Leu8786=) c.26352C>A (p.Leu8784=) c.26340C>A (p.Leu8780=) c.26337C>A (p.Leu8779=) c.26298C>A (p.Leu8766=) c.26283C>A (p.Leu8761=) c.26268C>A (p.Leu8756=) c.26256C>A (p.Leu8752=) c.26253C>A (p.Leu8751=) c.26250C>A (p.Leu8750=) c.*73C>A (n.*73C>A) c.26406C>A (p.Leu8802=) c.26394C>A (p.Leu8798=) c.26244C>A (p.Leu8748=) c.24684C>A (p.Leu8228=) c.24177C>A (p.Leu8059=) c.19644C>A (p.Leu6548=) c.26382C>A (p.Leu8794=) c.26331C>A (p.Leu8777=) c.26295C>A (p.Leu8765=) c.26142C>A (p.Leu8714=) | |
6 | g.152122569A>C | CA366088918 | ESR1,SYNE1 | c.2795T>G (p.Leu932Arg) c.26261T>G (p.Leu8754Arg) c.26117T>G (p.Leu8706Arg) c.1604T>G c.1979T>G c.1846T>G c.2111T>G (n.2111T>G) c.25046T>G (p.Leu8349Arg) n.3009T>G c.5037T>G (n.5037T>G) n.9953T>G c.4140T>G (n.4140T>G) n.9845T>G c.851-2697A>C (n.851-2697A>C) n.2875T>G n.6898T>G c.2726T>G (p.Leu909Arg) c.26408T>G (p.Leu8803Arg) c.26396T>G (p.Leu8799Arg) c.26387T>G (p.Leu8796Arg) c.26366T>G (p.Leu8789Arg) c.26357T>G (p.Leu8786Arg) c.26351T>G (p.Leu8784Arg) c.26339T>G (p.Leu8780Arg) c.26336T>G (p.Leu8779Arg) c.26297T>G (p.Leu8766Arg) c.26282T>G (p.Leu8761Arg) c.26267T>G (p.Leu8756Arg) c.26255T>G (p.Leu8752Arg) c.26252T>G (p.Leu8751Arg) c.26249T>G (p.Leu8750Arg) c.*72T>G (n.*72T>G) c.26405T>G (p.Leu8802Arg) c.26393T>G (p.Leu8798Arg) c.26243T>G (p.Leu8748Arg) c.24683T>G (p.Leu8228Arg) c.24176T>G (p.Leu8059Arg) c.19643T>G (p.Leu6548Arg) c.26381T>G (p.Leu8794Arg) c.26330T>G (p.Leu8777Arg) c.26294T>G (p.Leu8765Arg) c.26141T>G (p.Leu8714Arg) | |
6 | g.152122569A>G | CA366088920 | ESR1,SYNE1 | c.2795T>C (p.Leu932Pro) c.26261T>C (p.Leu8754Pro) c.26117T>C (p.Leu8706Pro) c.1604T>C c.1979T>C c.1846T>C c.2111T>C (n.2111T>C) c.25046T>C (p.Leu8349Pro) n.3009T>C c.5037T>C (n.5037T>C) n.9953T>C c.4140T>C (n.4140T>C) n.9845T>C c.851-2697A>G (n.851-2697A>G) n.2875T>C n.6898T>C c.2726T>C (p.Leu909Pro) c.26408T>C (p.Leu8803Pro) c.26396T>C (p.Leu8799Pro) c.26387T>C (p.Leu8796Pro) c.26366T>C (p.Leu8789Pro) c.26357T>C (p.Leu8786Pro) c.26351T>C (p.Leu8784Pro) c.26339T>C (p.Leu8780Pro) c.26336T>C (p.Leu8779Pro) c.26297T>C (p.Leu8766Pro) c.26282T>C (p.Leu8761Pro) c.26267T>C (p.Leu8756Pro) c.26255T>C (p.Leu8752Pro) c.26252T>C (p.Leu8751Pro) c.26249T>C (p.Leu8750Pro) c.*72T>C (n.*72T>C) c.26405T>C (p.Leu8802Pro) c.26393T>C (p.Leu8798Pro) c.26243T>C (p.Leu8748Pro) c.24683T>C (p.Leu8228Pro) c.24176T>C (p.Leu8059Pro) c.19643T>C (p.Leu6548Pro) c.26381T>C (p.Leu8794Pro) c.26330T>C (p.Leu8777Pro) c.26294T>C (p.Leu8765Pro) c.26141T>C (p.Leu8714Pro) | |
6 | g.152122569A>T | CA366088921 | ESR1,SYNE1 | c.2795T>A (p.Leu932His) c.26261T>A (p.Leu8754His) c.26117T>A (p.Leu8706His) c.1604T>A c.1979T>A c.1846T>A c.2111T>A (n.2111T>A) c.25046T>A (p.Leu8349His) n.3009T>A c.5037T>A (n.5037T>A) n.9953T>A c.4140T>A (n.4140T>A) n.9845T>A c.851-2697A>T (n.851-2697A>T) n.2875T>A n.6898T>A c.2726T>A (p.Leu909His) c.26408T>A (p.Leu8803His) c.26396T>A (p.Leu8799His) c.26387T>A (p.Leu8796His) c.26366T>A (p.Leu8789His) c.26357T>A (p.Leu8786His) c.26351T>A (p.Leu8784His) c.26339T>A (p.Leu8780His) c.26336T>A (p.Leu8779His) c.26297T>A (p.Leu8766His) c.26282T>A (p.Leu8761His) c.26267T>A (p.Leu8756His) c.26255T>A (p.Leu8752His) c.26252T>A (p.Leu8751His) c.26249T>A (p.Leu8750His) c.*72T>A (n.*72T>A) c.26405T>A (p.Leu8802His) c.26393T>A (p.Leu8798His) c.26243T>A (p.Leu8748His) c.24683T>A (p.Leu8228His) c.24176T>A (p.Leu8059His) c.19643T>A (p.Leu6548His) c.26381T>A (p.Leu8794His) c.26330T>A (p.Leu8777His) c.26294T>A (p.Leu8765His) c.26141T>A (p.Leu8714His) | |
6 | g.152122570G>A | CA366088923 | ESR1,SYNE1 | c.2794C>T (p.Leu932Phe) c.26260C>T (p.Leu8754Phe) c.26116C>T (p.Leu8706Phe) c.1603C>T c.1978C>T c.1845C>T c.2110C>T (n.2110C>T) c.25045C>T (p.Leu8349Phe) n.3008C>T c.5036C>T (n.5036C>T) n.9952C>T c.4139C>T (n.4139C>T) n.9844C>T c.851-2696G>A (n.851-2696G>A) n.2874C>T n.6897C>T c.2725C>T (p.Leu909Phe) c.26407C>T (p.Leu8803Phe) c.26395C>T (p.Leu8799Phe) c.26386C>T (p.Leu8796Phe) c.26365C>T (p.Leu8789Phe) c.26356C>T (p.Leu8786Phe) c.26350C>T (p.Leu8784Phe) c.26338C>T (p.Leu8780Phe) c.26335C>T (p.Leu8779Phe) c.26296C>T (p.Leu8766Phe) c.26281C>T (p.Leu8761Phe) c.26266C>T (p.Leu8756Phe) c.26254C>T (p.Leu8752Phe) c.26251C>T (p.Leu8751Phe) c.26248C>T (p.Leu8750Phe) c.*71C>T (n.*71C>T) c.26404C>T (p.Leu8802Phe) c.26392C>T (p.Leu8798Phe) c.26242C>T (p.Leu8748Phe) c.24682C>T (p.Leu8228Phe) c.24175C>T (p.Leu8059Phe) c.19642C>T (p.Leu6548Phe) c.26380C>T (p.Leu8794Phe) c.26329C>T (p.Leu8777Phe) c.26293C>T (p.Leu8765Phe) c.26140C>T (p.Leu8714Phe) | |
6 | g.152122570G>C | CA366088925 | ESR1,SYNE1 | c.2794C>G (p.Leu932Val) c.26260C>G (p.Leu8754Val) c.26116C>G (p.Leu8706Val) c.1603C>G c.1978C>G c.1845C>G c.2110C>G (n.2110C>G) c.25045C>G (p.Leu8349Val) n.3008C>G c.5036C>G (n.5036C>G) n.9952C>G c.4139C>G (n.4139C>G) n.9844C>G c.851-2696G>C (n.851-2696G>C) n.2874C>G n.6897C>G c.2725C>G (p.Leu909Val) c.26407C>G (p.Leu8803Val) c.26395C>G (p.Leu8799Val) c.26386C>G (p.Leu8796Val) c.26365C>G (p.Leu8789Val) c.26356C>G (p.Leu8786Val) c.26350C>G (p.Leu8784Val) c.26338C>G (p.Leu8780Val) c.26335C>G (p.Leu8779Val) c.26296C>G (p.Leu8766Val) c.26281C>G (p.Leu8761Val) c.26266C>G (p.Leu8756Val) c.26254C>G (p.Leu8752Val) c.26251C>G (p.Leu8751Val) c.26248C>G (p.Leu8750Val) c.*71C>G (n.*71C>G) c.26404C>G (p.Leu8802Val) c.26392C>G (p.Leu8798Val) c.26242C>G (p.Leu8748Val) c.24682C>G (p.Leu8228Val) c.24175C>G (p.Leu8059Val) c.19642C>G (p.Leu6548Val) c.26380C>G (p.Leu8794Val) c.26329C>G (p.Leu8777Val) c.26293C>G (p.Leu8765Val) c.26140C>G (p.Leu8714Val) | |
6 | g.152122570G>T | CA366088927 | ESR1,SYNE1 | c.2794C>A (p.Leu932Ile) c.26260C>A (p.Leu8754Ile) c.26116C>A (p.Leu8706Ile) c.1603C>A c.1978C>A c.1845C>A c.2110C>A (n.2110C>A) c.25045C>A (p.Leu8349Ile) n.3008C>A c.5036C>A (n.5036C>A) n.9952C>A c.4139C>A (n.4139C>A) n.9844C>A c.851-2696G>T (n.851-2696G>T) n.2874C>A n.6897C>A c.2725C>A (p.Leu909Ile) c.26407C>A (p.Leu8803Ile) c.26395C>A (p.Leu8799Ile) c.26386C>A (p.Leu8796Ile) c.26365C>A (p.Leu8789Ile) c.26356C>A (p.Leu8786Ile) c.26350C>A (p.Leu8784Ile) c.26338C>A (p.Leu8780Ile) c.26335C>A (p.Leu8779Ile) c.26296C>A (p.Leu8766Ile) c.26281C>A (p.Leu8761Ile) c.26266C>A (p.Leu8756Ile) c.26254C>A (p.Leu8752Ile) c.26251C>A (p.Leu8751Ile) c.26248C>A (p.Leu8750Ile) c.*71C>A (n.*71C>A) c.26404C>A (p.Leu8802Ile) c.26392C>A (p.Leu8798Ile) c.26242C>A (p.Leu8748Ile) c.24682C>A (p.Leu8228Ile) c.24175C>A (p.Leu8059Ile) c.19642C>A (p.Leu6548Ile) c.26380C>A (p.Leu8794Ile) c.26329C>A (p.Leu8777Ile) c.26293C>A (p.Leu8765Ile) c.26140C>A (p.Leu8714Ile) | |
6 | g.152122571A>C | CA452969722 | ESR1,SYNE1 | c.2793T>G (p.Leu931=) c.26259T>G (p.Leu8753=) c.26115T>G (p.Leu8705=) c.1602T>G c.1977T>G c.1844T>G c.2109T>G (n.2109T>G) c.25044T>G (p.Leu8348=) n.3007T>G c.5035T>G (n.5035T>G) n.9951T>G c.4138T>G (n.4138T>G) n.9843T>G c.851-2695A>C (n.851-2695A>C) n.2873T>G n.6896T>G c.2724T>G (p.Leu908=) c.26406T>G (p.Leu8802=) c.26394T>G (p.Leu8798=) c.26385T>G (p.Leu8795=) c.26364T>G (p.Leu8788=) c.26355T>G (p.Leu8785=) c.26349T>G (p.Leu8783=) c.26337T>G (p.Leu8779=) c.26334T>G (p.Leu8778=) c.26295T>G (p.Leu8765=) c.26280T>G (p.Leu8760=) c.26265T>G (p.Leu8755=) c.26253T>G (p.Leu8751=) c.26250T>G (p.Leu8750=) c.26247T>G (p.Leu8749=) c.*70T>G (n.*70T>G) c.26403T>G (p.Leu8801=) c.26391T>G (p.Leu8797=) c.26241T>G (p.Leu8747=) c.24681T>G (p.Leu8227=) c.24174T>G (p.Leu8058=) c.19641T>G (p.Leu6547=) c.26379T>G (p.Leu8793=) c.26328T>G (p.Leu8776=) c.26292T>G (p.Leu8764=) c.26139T>G (p.Leu8713=) | |
6 | g.152122571A>G | CA452969724 | ESR1,SYNE1 | c.2793T>C (p.Leu931=) c.26259T>C (p.Leu8753=) c.26115T>C (p.Leu8705=) c.1602T>C c.1977T>C c.1844T>C c.2109T>C (n.2109T>C) c.25044T>C (p.Leu8348=) n.3007T>C c.5035T>C (n.5035T>C) n.9951T>C c.4138T>C (n.4138T>C) n.9843T>C c.851-2695A>G (n.851-2695A>G) n.2873T>C n.6896T>C c.2724T>C (p.Leu908=) c.26406T>C (p.Leu8802=) c.26394T>C (p.Leu8798=) c.26385T>C (p.Leu8795=) c.26364T>C (p.Leu8788=) c.26355T>C (p.Leu8785=) c.26349T>C (p.Leu8783=) c.26337T>C (p.Leu8779=) c.26334T>C (p.Leu8778=) c.26295T>C (p.Leu8765=) c.26280T>C (p.Leu8760=) c.26265T>C (p.Leu8755=) c.26253T>C (p.Leu8751=) c.26250T>C (p.Leu8750=) c.26247T>C (p.Leu8749=) c.*70T>C (n.*70T>C) c.26403T>C (p.Leu8801=) c.26391T>C (p.Leu8797=) c.26241T>C (p.Leu8747=) c.24681T>C (p.Leu8227=) c.24174T>C (p.Leu8058=) c.19641T>C (p.Leu6547=) c.26379T>C (p.Leu8793=) c.26328T>C (p.Leu8776=) c.26292T>C (p.Leu8764=) c.26139T>C (p.Leu8713=) | |
6 | g.152122571A>T | CA452969723 | ESR1,SYNE1 | c.2793T>A (p.Leu931=) c.26259T>A (p.Leu8753=) c.26115T>A (p.Leu8705=) c.1602T>A c.1977T>A c.1844T>A c.2109T>A (n.2109T>A) c.25044T>A (p.Leu8348=) n.3007T>A c.5035T>A (n.5035T>A) n.9951T>A c.4138T>A (n.4138T>A) n.9843T>A c.851-2695A>T (n.851-2695A>T) n.2873T>A n.6896T>A c.2724T>A (p.Leu908=) c.26406T>A (p.Leu8802=) c.26394T>A (p.Leu8798=) c.26385T>A (p.Leu8795=) c.26364T>A (p.Leu8788=) c.26355T>A (p.Leu8785=) c.26349T>A (p.Leu8783=) c.26337T>A (p.Leu8779=) c.26334T>A (p.Leu8778=) c.26295T>A (p.Leu8765=) c.26280T>A (p.Leu8760=) c.26265T>A (p.Leu8755=) c.26253T>A (p.Leu8751=) c.26250T>A (p.Leu8750=) c.26247T>A (p.Leu8749=) c.*70T>A (n.*70T>A) c.26403T>A (p.Leu8801=) c.26391T>A (p.Leu8797=) c.26241T>A (p.Leu8747=) c.24681T>A (p.Leu8227=) c.24174T>A (p.Leu8058=) c.19641T>A (p.Leu6547=) c.26379T>A (p.Leu8793=) c.26328T>A (p.Leu8776=) c.26292T>A (p.Leu8764=) c.26139T>A (p.Leu8713=) | |
6 | g.152122572A>C | CA366088929 | ESR1,SYNE1 | c.2792T>G (p.Leu931Arg) c.26258T>G (p.Leu8753Arg) c.26114T>G (p.Leu8705Arg) c.1601T>G c.1976T>G c.1843T>G c.2108T>G (n.2108T>G) c.25043T>G (p.Leu8348Arg) n.3006T>G c.5034T>G (n.5034T>G) n.9950T>G c.4137T>G (n.4137T>G) n.9842T>G c.851-2694A>C (n.851-2694A>C) n.2872T>G n.6895T>G c.2723T>G (p.Leu908Arg) c.26405T>G (p.Leu8802Arg) c.26393T>G (p.Leu8798Arg) c.26384T>G (p.Leu8795Arg) c.26363T>G (p.Leu8788Arg) c.26354T>G (p.Leu8785Arg) c.26348T>G (p.Leu8783Arg) c.26336T>G (p.Leu8779Arg) c.26333T>G (p.Leu8778Arg) c.26294T>G (p.Leu8765Arg) c.26279T>G (p.Leu8760Arg) c.26264T>G (p.Leu8755Arg) c.26252T>G (p.Leu8751Arg) c.26249T>G (p.Leu8750Arg) c.26246T>G (p.Leu8749Arg) c.*69T>G (n.*69T>G) c.26402T>G (p.Leu8801Arg) c.26390T>G (p.Leu8797Arg) c.26240T>G (p.Leu8747Arg) c.24680T>G (p.Leu8227Arg) c.24173T>G (p.Leu8058Arg) c.19640T>G (p.Leu6547Arg) c.26378T>G (p.Leu8793Arg) c.26327T>G (p.Leu8776Arg) c.26291T>G (p.Leu8764Arg) c.26138T>G (p.Leu8713Arg) | |
6 | g.152122572A>G | CA366088931 | ESR1,SYNE1 | c.2792T>C (p.Leu931Pro) c.26258T>C (p.Leu8753Pro) c.26114T>C (p.Leu8705Pro) c.1601T>C c.1976T>C c.1843T>C c.2108T>C (n.2108T>C) c.25043T>C (p.Leu8348Pro) n.3006T>C c.5034T>C (n.5034T>C) n.9950T>C c.4137T>C (n.4137T>C) n.9842T>C c.851-2694A>G (n.851-2694A>G) n.2872T>C n.6895T>C c.2723T>C (p.Leu908Pro) c.26405T>C (p.Leu8802Pro) c.26393T>C (p.Leu8798Pro) c.26384T>C (p.Leu8795Pro) c.26363T>C (p.Leu8788Pro) c.26354T>C (p.Leu8785Pro) c.26348T>C (p.Leu8783Pro) c.26336T>C (p.Leu8779Pro) c.26333T>C (p.Leu8778Pro) c.26294T>C (p.Leu8765Pro) c.26279T>C (p.Leu8760Pro) c.26264T>C (p.Leu8755Pro) c.26252T>C (p.Leu8751Pro) c.26249T>C (p.Leu8750Pro) c.26246T>C (p.Leu8749Pro) c.*69T>C (n.*69T>C) c.26402T>C (p.Leu8801Pro) c.26390T>C (p.Leu8797Pro) c.26240T>C (p.Leu8747Pro) c.24680T>C (p.Leu8227Pro) c.24173T>C (p.Leu8058Pro) c.19640T>C (p.Leu6547Pro) c.26378T>C (p.Leu8793Pro) c.26327T>C (p.Leu8776Pro) c.26291T>C (p.Leu8764Pro) c.26138T>C (p.Leu8713Pro) | |
6 | g.152122572A>T | CA366088933 | ESR1,SYNE1 | c.2792T>A (p.Leu931His) c.26258T>A (p.Leu8753His) c.26114T>A (p.Leu8705His) c.1601T>A c.1976T>A c.1843T>A c.2108T>A (n.2108T>A) c.25043T>A (p.Leu8348His) n.3006T>A c.5034T>A (n.5034T>A) n.9950T>A c.4137T>A (n.4137T>A) n.9842T>A c.851-2694A>T (n.851-2694A>T) n.2872T>A n.6895T>A c.2723T>A (p.Leu908His) c.26405T>A (p.Leu8802His) c.26393T>A (p.Leu8798His) c.26384T>A (p.Leu8795His) c.26363T>A (p.Leu8788His) c.26354T>A (p.Leu8785His) c.26348T>A (p.Leu8783His) c.26336T>A (p.Leu8779His) c.26333T>A (p.Leu8778His) c.26294T>A (p.Leu8765His) c.26279T>A (p.Leu8760His) c.26264T>A (p.Leu8755His) c.26252T>A (p.Leu8751His) c.26249T>A (p.Leu8750His) c.26246T>A (p.Leu8749His) c.*69T>A (n.*69T>A) c.26402T>A (p.Leu8801His) c.26390T>A (p.Leu8797His) c.26240T>A (p.Leu8747His) c.24680T>A (p.Leu8227His) c.24173T>A (p.Leu8058His) c.19640T>A (p.Leu6547His) c.26378T>A (p.Leu8793His) c.26327T>A (p.Leu8776His) c.26291T>A (p.Leu8764His) c.26138T>A (p.Leu8713His) | |
6 | g.152122573G>A | CA366088935 | ESR1,SYNE1 | c.2791C>T (p.Leu931Phe) c.26257C>T (p.Leu8753Phe) c.26113C>T (p.Leu8705Phe) c.1600C>T c.1975C>T c.1842C>T c.2107C>T (n.2107C>T) c.25042C>T (p.Leu8348Phe) n.3005C>T c.5033C>T (n.5033C>T) n.9949C>T c.4136C>T (n.4136C>T) n.9841C>T c.851-2693G>A (n.851-2693G>A) n.2871C>T n.6894C>T c.2722C>T (p.Leu908Phe) c.26404C>T (p.Leu8802Phe) c.26392C>T (p.Leu8798Phe) c.26383C>T (p.Leu8795Phe) c.26362C>T (p.Leu8788Phe) c.26353C>T (p.Leu8785Phe) c.26347C>T (p.Leu8783Phe) c.26335C>T (p.Leu8779Phe) c.26332C>T (p.Leu8778Phe) c.26293C>T (p.Leu8765Phe) c.26278C>T (p.Leu8760Phe) c.26263C>T (p.Leu8755Phe) c.26251C>T (p.Leu8751Phe) c.26248C>T (p.Leu8750Phe) c.26245C>T (p.Leu8749Phe) c.*68C>T (n.*68C>T) c.26401C>T (p.Leu8801Phe) c.26389C>T (p.Leu8797Phe) c.26239C>T (p.Leu8747Phe) c.24679C>T (p.Leu8227Phe) c.24172C>T (p.Leu8058Phe) c.19639C>T (p.Leu6547Phe) c.26377C>T (p.Leu8793Phe) c.26326C>T (p.Leu8776Phe) c.26290C>T (p.Leu8764Phe) c.26137C>T (p.Leu8713Phe) | |
6 | g.152122573G>C | CA366088937 | ESR1,SYNE1 | c.2791C>G (p.Leu931Val) c.26257C>G (p.Leu8753Val) c.26113C>G (p.Leu8705Val) c.1600C>G c.1975C>G c.1842C>G c.2107C>G (n.2107C>G) c.25042C>G (p.Leu8348Val) n.3005C>G c.5033C>G (n.5033C>G) n.9949C>G c.4136C>G (n.4136C>G) n.9841C>G c.851-2693G>C (n.851-2693G>C) n.2871C>G n.6894C>G c.2722C>G (p.Leu908Val) c.26404C>G (p.Leu8802Val) c.26392C>G (p.Leu8798Val) c.26383C>G (p.Leu8795Val) c.26362C>G (p.Leu8788Val) c.26353C>G (p.Leu8785Val) c.26347C>G (p.Leu8783Val) c.26335C>G (p.Leu8779Val) c.26332C>G (p.Leu8778Val) c.26293C>G (p.Leu8765Val) c.26278C>G (p.Leu8760Val) c.26263C>G (p.Leu8755Val) c.26251C>G (p.Leu8751Val) c.26248C>G (p.Leu8750Val) c.26245C>G (p.Leu8749Val) c.*68C>G (n.*68C>G) c.26401C>G (p.Leu8801Val) c.26389C>G (p.Leu8797Val) c.26239C>G (p.Leu8747Val) c.24679C>G (p.Leu8227Val) c.24172C>G (p.Leu8058Val) c.19639C>G (p.Leu6547Val) c.26377C>G (p.Leu8793Val) c.26326C>G (p.Leu8776Val) c.26290C>G (p.Leu8764Val) c.26137C>G (p.Leu8713Val) | |
6 | g.152122573G>T | CA366088939 | ESR1,SYNE1 | c.2791C>A (p.Leu931Ile) c.26257C>A (p.Leu8753Ile) c.26113C>A (p.Leu8705Ile) c.1600C>A c.1975C>A c.1842C>A c.2107C>A (n.2107C>A) c.25042C>A (p.Leu8348Ile) n.3005C>A c.5033C>A (n.5033C>A) n.9949C>A c.4136C>A (n.4136C>A) n.9841C>A c.851-2693G>T (n.851-2693G>T) n.2871C>A n.6894C>A c.2722C>A (p.Leu908Ile) c.26404C>A (p.Leu8802Ile) c.26392C>A (p.Leu8798Ile) c.26383C>A (p.Leu8795Ile) c.26362C>A (p.Leu8788Ile) c.26353C>A (p.Leu8785Ile) c.26347C>A (p.Leu8783Ile) c.26335C>A (p.Leu8779Ile) c.26332C>A (p.Leu8778Ile) c.26293C>A (p.Leu8765Ile) c.26278C>A (p.Leu8760Ile) c.26263C>A (p.Leu8755Ile) c.26251C>A (p.Leu8751Ile) c.26248C>A (p.Leu8750Ile) c.26245C>A (p.Leu8749Ile) c.*68C>A (n.*68C>A) c.26401C>A (p.Leu8801Ile) c.26389C>A (p.Leu8797Ile) c.26239C>A (p.Leu8747Ile) c.24679C>A (p.Leu8227Ile) c.24172C>A (p.Leu8058Ile) c.19639C>A (p.Leu6547Ile) c.26377C>A (p.Leu8793Ile) c.26326C>A (p.Leu8776Ile) c.26290C>A (p.Leu8764Ile) c.26137C>A (p.Leu8713Ile) | |
6 | g.152122574C>A | CA366088941 | ESR1,SYNE1 | c.2790G>T (p.Gln930His) c.26256G>T (p.Gln8752His) c.26112G>T (p.Gln8704His) c.1599G>T c.1974G>T c.1841G>T c.2106G>T (n.2106G>T) c.25041G>T (p.Gln8347His) n.3004G>T c.5032G>T (n.5032G>T) n.9948G>T c.4135G>T (n.4135G>T) n.9840G>T c.851-2692C>A (n.851-2692C>A) n.2870G>T n.6893G>T c.2721G>T (p.Gln907His) c.26403G>T (p.Gln8801His) c.26391G>T (p.Gln8797His) c.26382G>T (p.Gln8794His) c.26361G>T (p.Gln8787His) c.26352G>T (p.Gln8784His) c.26346G>T (p.Gln8782His) c.26334G>T (p.Gln8778His) c.26331G>T (p.Gln8777His) c.26292G>T (p.Gln8764His) c.26277G>T (p.Gln8759His) c.26262G>T (p.Gln8754His) c.26250G>T (p.Gln8750His) c.26247G>T (p.Gln8749His) c.26244G>T (p.Gln8748His) c.*67G>T (n.*67G>T) c.26400G>T (p.Gln8800His) c.26388G>T (p.Gln8796His) c.26238G>T (p.Gln8746His) c.24678G>T (p.Gln8226His) c.24171G>T (p.Gln8057His) c.19638G>T (p.Gln6546His) c.26376G>T (p.Gln8792His) c.26325G>T (p.Gln8775His) c.26289G>T (p.Gln8763His) c.26136G>T (p.Gln8712His) | COSMIC COSMIC COSMIC |
6 | g.152122574C= | CA1673189025 | ESR1,SYNE1 | c.2790G= (p.Gln930=) c.26256G= (p.Gln8752=) c.26112G= (p.Gln8704=) c.1599G= c.1974G= c.1841G= c.2106G= (n.2106G=) c.25041G= (p.Gln8347=) n.3004G= c.5032G= (n.5032G=) n.9948G= c.4135G= (n.4135G=) n.9840G= c.851-2692C= (n.851-2692C=) n.2870G= n.6893G= c.2721G= (p.Gln907=) c.26403G= (p.Gln8801=) c.26391G= (p.Gln8797=) c.26382G= (p.Gln8794=) c.26361G= (p.Gln8787=) c.26352G= (p.Gln8784=) c.26346G= (p.Gln8782=) c.26334G= (p.Gln8778=) c.26331G= (p.Gln8777=) c.26292G= (p.Gln8764=) c.26277G= (p.Gln8759=) c.26262G= (p.Gln8754=) c.26250G= (p.Gln8750=) c.26247G= (p.Gln8749=) c.26244G= (p.Gln8748=) c.*67G= (n.*67G=) c.26400G= (p.Gln8800=) c.26388G= (p.Gln8796=) c.26238G= (p.Gln8746=) c.24678G= (p.Gln8226=) c.24171G= (p.Gln8057=) c.19638G= (p.Gln6546=) c.26376G= (p.Gln8792=) c.26325G= (p.Gln8775=) c.26289G= (p.Gln8763=) c.26136G= (p.Gln8712=) | |
6 | g.152122574C>G | CA366088943 | ESR1,SYNE1 | c.2790G>C (p.Gln930His) c.26256G>C (p.Gln8752His) c.26112G>C (p.Gln8704His) c.1599G>C c.1974G>C c.1841G>C c.2106G>C (n.2106G>C) c.25041G>C (p.Gln8347His) n.3004G>C c.5032G>C (n.5032G>C) n.9948G>C c.4135G>C (n.4135G>C) n.9840G>C c.851-2692C>G (n.851-2692C>G) n.2870G>C n.6893G>C c.2721G>C (p.Gln907His) c.26403G>C (p.Gln8801His) c.26391G>C (p.Gln8797His) c.26382G>C (p.Gln8794His) c.26361G>C (p.Gln8787His) c.26352G>C (p.Gln8784His) c.26346G>C (p.Gln8782His) c.26334G>C (p.Gln8778His) c.26331G>C (p.Gln8777His) c.26292G>C (p.Gln8764His) c.26277G>C (p.Gln8759His) c.26262G>C (p.Gln8754His) c.26250G>C (p.Gln8750His) c.26247G>C (p.Gln8749His) c.26244G>C (p.Gln8748His) c.*67G>C (n.*67G>C) c.26400G>C (p.Gln8800His) c.26388G>C (p.Gln8796His) c.26238G>C (p.Gln8746His) c.24678G>C (p.Gln8226His) c.24171G>C (p.Gln8057His) c.19638G>C (p.Gln6546His) c.26376G>C (p.Gln8792His) c.26325G>C (p.Gln8775His) c.26289G>C (p.Gln8763His) c.26136G>C (p.Gln8712His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122574C>T | CA452969552 | ESR1,SYNE1 | c.2790G>A (p.Gln930=) c.26256G>A (p.Gln8752=) c.26112G>A (p.Gln8704=) c.1599G>A c.1974G>A c.1841G>A c.2106G>A (n.2106G>A) c.25041G>A (p.Gln8347=) n.3004G>A c.5032G>A (n.5032G>A) n.9948G>A c.4135G>A (n.4135G>A) n.9840G>A c.851-2692C>T (n.851-2692C>T) n.2870G>A n.6893G>A c.2721G>A (p.Gln907=) c.26403G>A (p.Gln8801=) c.26391G>A (p.Gln8797=) c.26382G>A (p.Gln8794=) c.26361G>A (p.Gln8787=) c.26352G>A (p.Gln8784=) c.26346G>A (p.Gln8782=) c.26334G>A (p.Gln8778=) c.26331G>A (p.Gln8777=) c.26292G>A (p.Gln8764=) c.26277G>A (p.Gln8759=) c.26262G>A (p.Gln8754=) c.26250G>A (p.Gln8750=) c.26247G>A (p.Gln8749=) c.26244G>A (p.Gln8748=) c.*67G>A (n.*67G>A) c.26400G>A (p.Gln8800=) c.26388G>A (p.Gln8796=) c.26238G>A (p.Gln8746=) c.24678G>A (p.Gln8226=) c.24171G>A (p.Gln8057=) c.19638G>A (p.Gln6546=) c.26376G>A (p.Gln8792=) c.26325G>A (p.Gln8775=) c.26289G>A (p.Gln8763=) c.26136G>A (p.Gln8712=) | |
6 | g.152122575T>A | CA366088945 | ESR1,SYNE1 | c.2789A>T (p.Gln930Leu) c.26255A>T (p.Gln8752Leu) c.26111A>T (p.Gln8704Leu) c.1598A>T c.1973A>T c.1840A>T c.2105A>T (n.2105A>T) c.25040A>T (p.Gln8347Leu) n.3003A>T c.5031A>T (n.5031A>T) n.9947A>T c.4134A>T (n.4134A>T) n.9839A>T c.851-2691T>A (n.851-2691T>A) n.2869A>T n.6892A>T c.2720A>T (p.Gln907Leu) c.26402A>T (p.Gln8801Leu) c.26390A>T (p.Gln8797Leu) c.26381A>T (p.Gln8794Leu) c.26360A>T (p.Gln8787Leu) c.26351A>T (p.Gln8784Leu) c.26345A>T (p.Gln8782Leu) c.26333A>T (p.Gln8778Leu) c.26330A>T (p.Gln8777Leu) c.26291A>T (p.Gln8764Leu) c.26276A>T (p.Gln8759Leu) c.26261A>T (p.Gln8754Leu) c.26249A>T (p.Gln8750Leu) c.26246A>T (p.Gln8749Leu) c.26243A>T (p.Gln8748Leu) c.*66A>T (n.*66A>T) c.26399A>T (p.Gln8800Leu) c.26387A>T (p.Gln8796Leu) c.26237A>T (p.Gln8746Leu) c.24677A>T (p.Gln8226Leu) c.24170A>T (p.Gln8057Leu) c.19637A>T (p.Gln6546Leu) c.26375A>T (p.Gln8792Leu) c.26324A>T (p.Gln8775Leu) c.26288A>T (p.Gln8763Leu) c.26135A>T (p.Gln8712Leu) | |
6 | g.152122575T>C | CA366088947 | ESR1,SYNE1 | c.2789A>G (p.Gln930Arg) c.26255A>G (p.Gln8752Arg) c.26111A>G (p.Gln8704Arg) c.1598A>G c.1973A>G c.1840A>G c.2105A>G (n.2105A>G) c.25040A>G (p.Gln8347Arg) n.3003A>G c.5031A>G (n.5031A>G) n.9947A>G c.4134A>G (n.4134A>G) n.9839A>G c.851-2691T>C (n.851-2691T>C) n.2869A>G n.6892A>G c.2720A>G (p.Gln907Arg) c.26402A>G (p.Gln8801Arg) c.26390A>G (p.Gln8797Arg) c.26381A>G (p.Gln8794Arg) c.26360A>G (p.Gln8787Arg) c.26351A>G (p.Gln8784Arg) c.26345A>G (p.Gln8782Arg) c.26333A>G (p.Gln8778Arg) c.26330A>G (p.Gln8777Arg) c.26291A>G (p.Gln8764Arg) c.26276A>G (p.Gln8759Arg) c.26261A>G (p.Gln8754Arg) c.26249A>G (p.Gln8750Arg) c.26246A>G (p.Gln8749Arg) c.26243A>G (p.Gln8748Arg) c.*66A>G (n.*66A>G) c.26399A>G (p.Gln8800Arg) c.26387A>G (p.Gln8796Arg) c.26237A>G (p.Gln8746Arg) c.24677A>G (p.Gln8226Arg) c.24170A>G (p.Gln8057Arg) c.19637A>G (p.Gln6546Arg) c.26375A>G (p.Gln8792Arg) c.26324A>G (p.Gln8775Arg) c.26288A>G (p.Gln8763Arg) c.26135A>G (p.Gln8712Arg) | |
6 | g.152122575T>G | CA366088949 | ESR1,SYNE1 | c.2789A>C (p.Gln930Pro) c.26255A>C (p.Gln8752Pro) c.26111A>C (p.Gln8704Pro) c.1598A>C c.1973A>C c.1840A>C c.2105A>C (n.2105A>C) c.25040A>C (p.Gln8347Pro) n.3003A>C c.5031A>C (n.5031A>C) n.9947A>C c.4134A>C (n.4134A>C) n.9839A>C c.851-2691T>G (n.851-2691T>G) n.2869A>C n.6892A>C c.2720A>C (p.Gln907Pro) c.26402A>C (p.Gln8801Pro) c.26390A>C (p.Gln8797Pro) c.26381A>C (p.Gln8794Pro) c.26360A>C (p.Gln8787Pro) c.26351A>C (p.Gln8784Pro) c.26345A>C (p.Gln8782Pro) c.26333A>C (p.Gln8778Pro) c.26330A>C (p.Gln8777Pro) c.26291A>C (p.Gln8764Pro) c.26276A>C (p.Gln8759Pro) c.26261A>C (p.Gln8754Pro) c.26249A>C (p.Gln8750Pro) c.26246A>C (p.Gln8749Pro) c.26243A>C (p.Gln8748Pro) c.*66A>C (n.*66A>C) c.26399A>C (p.Gln8800Pro) c.26387A>C (p.Gln8796Pro) c.26237A>C (p.Gln8746Pro) c.24677A>C (p.Gln8226Pro) c.24170A>C (p.Gln8057Pro) c.19637A>C (p.Gln6546Pro) c.26375A>C (p.Gln8792Pro) c.26324A>C (p.Gln8775Pro) c.26288A>C (p.Gln8763Pro) c.26135A>C (p.Gln8712Pro) | |
6 | g.152122576G>A | CA366088951 | ESR1,SYNE1 | c.2788C>T (p.Gln930Ter) c.26254C>T (p.Gln8752Ter) c.26110C>T (p.Gln8704Ter) c.1597C>T c.1972C>T c.1839C>T c.2104C>T (n.2104C>T) c.25039C>T (p.Gln8347Ter) n.3002C>T c.5030C>T (n.5030C>T) n.9946C>T c.4133C>T (n.4133C>T) n.9838C>T c.851-2690G>A (n.851-2690G>A) n.2868C>T n.6891C>T c.2719C>T (p.Gln907Ter) c.26401C>T (p.Gln8801Ter) c.26389C>T (p.Gln8797Ter) c.26380C>T (p.Gln8794Ter) c.26359C>T (p.Gln8787Ter) c.26350C>T (p.Gln8784Ter) c.26344C>T (p.Gln8782Ter) c.26332C>T (p.Gln8778Ter) c.26329C>T (p.Gln8777Ter) c.26290C>T (p.Gln8764Ter) c.26275C>T (p.Gln8759Ter) c.26260C>T (p.Gln8754Ter) c.26248C>T (p.Gln8750Ter) c.26245C>T (p.Gln8749Ter) c.26242C>T (p.Gln8748Ter) c.*65C>T (n.*65C>T) c.26398C>T (p.Gln8800Ter) c.26386C>T (p.Gln8796Ter) c.26236C>T (p.Gln8746Ter) c.24676C>T (p.Gln8226Ter) c.24169C>T (p.Gln8057Ter) c.19636C>T (p.Gln6546Ter) c.26374C>T (p.Gln8792Ter) c.26323C>T (p.Gln8775Ter) c.26287C>T (p.Gln8763Ter) c.26134C>T (p.Gln8712Ter) | |
6 | g.152122576G>C | CA366088953 | ESR1,SYNE1 | c.2788C>G (p.Gln930Glu) c.26254C>G (p.Gln8752Glu) c.26110C>G (p.Gln8704Glu) c.1597C>G c.1972C>G c.1839C>G c.2104C>G (n.2104C>G) c.25039C>G (p.Gln8347Glu) n.3002C>G c.5030C>G (n.5030C>G) n.9946C>G c.4133C>G (n.4133C>G) n.9838C>G c.851-2690G>C (n.851-2690G>C) n.2868C>G n.6891C>G c.2719C>G (p.Gln907Glu) c.26401C>G (p.Gln8801Glu) c.26389C>G (p.Gln8797Glu) c.26380C>G (p.Gln8794Glu) c.26359C>G (p.Gln8787Glu) c.26350C>G (p.Gln8784Glu) c.26344C>G (p.Gln8782Glu) c.26332C>G (p.Gln8778Glu) c.26329C>G (p.Gln8777Glu) c.26290C>G (p.Gln8764Glu) c.26275C>G (p.Gln8759Glu) c.26260C>G (p.Gln8754Glu) c.26248C>G (p.Gln8750Glu) c.26245C>G (p.Gln8749Glu) c.26242C>G (p.Gln8748Glu) c.*65C>G (n.*65C>G) c.26398C>G (p.Gln8800Glu) c.26386C>G (p.Gln8796Glu) c.26236C>G (p.Gln8746Glu) c.24676C>G (p.Gln8226Glu) c.24169C>G (p.Gln8057Glu) c.19636C>G (p.Gln6546Glu) c.26374C>G (p.Gln8792Glu) c.26323C>G (p.Gln8775Glu) c.26287C>G (p.Gln8763Glu) c.26134C>G (p.Gln8712Glu) | |
6 | g.152122576G>T | CA366088955 | ESR1,SYNE1 | c.2788C>A (p.Gln930Lys) c.26254C>A (p.Gln8752Lys) c.26110C>A (p.Gln8704Lys) c.1597C>A c.1972C>A c.1839C>A c.2104C>A (n.2104C>A) c.25039C>A (p.Gln8347Lys) n.3002C>A c.5030C>A (n.5030C>A) n.9946C>A c.4133C>A (n.4133C>A) n.9838C>A c.851-2690G>T (n.851-2690G>T) n.2868C>A n.6891C>A c.2719C>A (p.Gln907Lys) c.26401C>A (p.Gln8801Lys) c.26389C>A (p.Gln8797Lys) c.26380C>A (p.Gln8794Lys) c.26359C>A (p.Gln8787Lys) c.26350C>A (p.Gln8784Lys) c.26344C>A (p.Gln8782Lys) c.26332C>A (p.Gln8778Lys) c.26329C>A (p.Gln8777Lys) c.26290C>A (p.Gln8764Lys) c.26275C>A (p.Gln8759Lys) c.26260C>A (p.Gln8754Lys) c.26248C>A (p.Gln8750Lys) c.26245C>A (p.Gln8749Lys) c.26242C>A (p.Gln8748Lys) c.*65C>A (n.*65C>A) c.26398C>A (p.Gln8800Lys) c.26386C>A (p.Gln8796Lys) c.26236C>A (p.Gln8746Lys) c.24676C>A (p.Gln8226Lys) c.24169C>A (p.Gln8057Lys) c.19636C>A (p.Gln6546Lys) c.26374C>A (p.Gln8792Lys) c.26323C>A (p.Gln8775Lys) c.26287C>A (p.Gln8763Lys) c.26134C>A (p.Gln8712Lys) | |
6 | g.152122577A>C | CA452969558 | ESR1,SYNE1 | c.2787T>G (p.Leu929=) c.26253T>G (p.Leu8751=) c.26109T>G (p.Leu8703=) c.1596T>G c.1971T>G c.1838T>G c.2103T>G (n.2103T>G) c.25038T>G (p.Leu8346=) n.3001T>G c.5029T>G (n.5029T>G) n.9945T>G c.4132T>G (n.4132T>G) n.9837T>G c.851-2689A>C (n.851-2689A>C) n.2867T>G n.6890T>G c.2718T>G (p.Leu906=) c.26400T>G (p.Leu8800=) c.26388T>G (p.Leu8796=) c.26379T>G (p.Leu8793=) c.26358T>G (p.Leu8786=) c.26349T>G (p.Leu8783=) c.26343T>G (p.Leu8781=) c.26331T>G (p.Leu8777=) c.26328T>G (p.Leu8776=) c.26289T>G (p.Leu8763=) c.26274T>G (p.Leu8758=) c.26259T>G (p.Leu8753=) c.26247T>G (p.Leu8749=) c.26244T>G (p.Leu8748=) c.26241T>G (p.Leu8747=) c.*64T>G (n.*64T>G) c.26397T>G (p.Leu8799=) c.26385T>G (p.Leu8795=) c.26235T>G (p.Leu8745=) c.24675T>G (p.Leu8225=) c.24168T>G (p.Leu8056=) c.19635T>G (p.Leu6545=) c.26373T>G (p.Leu8791=) c.26322T>G (p.Leu8774=) c.26286T>G (p.Leu8762=) c.26133T>G (p.Leu8711=) | |
6 | g.152122577A>G | CA452969559 | ESR1,SYNE1 | c.2787T>C (p.Leu929=) c.26253T>C (p.Leu8751=) c.26109T>C (p.Leu8703=) c.1596T>C c.1971T>C c.1838T>C c.2103T>C (n.2103T>C) c.25038T>C (p.Leu8346=) n.3001T>C c.5029T>C (n.5029T>C) n.9945T>C c.4132T>C (n.4132T>C) n.9837T>C c.851-2689A>G (n.851-2689A>G) n.2867T>C n.6890T>C c.2718T>C (p.Leu906=) c.26400T>C (p.Leu8800=) c.26388T>C (p.Leu8796=) c.26379T>C (p.Leu8793=) c.26358T>C (p.Leu8786=) c.26349T>C (p.Leu8783=) c.26343T>C (p.Leu8781=) c.26331T>C (p.Leu8777=) c.26328T>C (p.Leu8776=) c.26289T>C (p.Leu8763=) c.26274T>C (p.Leu8758=) c.26259T>C (p.Leu8753=) c.26247T>C (p.Leu8749=) c.26244T>C (p.Leu8748=) c.26241T>C (p.Leu8747=) c.*64T>C (n.*64T>C) c.26397T>C (p.Leu8799=) c.26385T>C (p.Leu8795=) c.26235T>C (p.Leu8745=) c.24675T>C (p.Leu8225=) c.24168T>C (p.Leu8056=) c.19635T>C (p.Leu6545=) c.26373T>C (p.Leu8791=) c.26322T>C (p.Leu8774=) c.26286T>C (p.Leu8762=) c.26133T>C (p.Leu8711=) | |
6 | g.152122577A>T | CA452969560 | ESR1,SYNE1 | c.2787T>A (p.Leu929=) c.26253T>A (p.Leu8751=) c.26109T>A (p.Leu8703=) c.1596T>A c.1971T>A c.1838T>A c.2103T>A (n.2103T>A) c.25038T>A (p.Leu8346=) n.3001T>A c.5029T>A (n.5029T>A) n.9945T>A c.4132T>A (n.4132T>A) n.9837T>A c.851-2689A>T (n.851-2689A>T) n.2867T>A n.6890T>A c.2718T>A (p.Leu906=) c.26400T>A (p.Leu8800=) c.26388T>A (p.Leu8796=) c.26379T>A (p.Leu8793=) c.26358T>A (p.Leu8786=) c.26349T>A (p.Leu8783=) c.26343T>A (p.Leu8781=) c.26331T>A (p.Leu8777=) c.26328T>A (p.Leu8776=) c.26289T>A (p.Leu8763=) c.26274T>A (p.Leu8758=) c.26259T>A (p.Leu8753=) c.26247T>A (p.Leu8749=) c.26244T>A (p.Leu8748=) c.26241T>A (p.Leu8747=) c.*64T>A (n.*64T>A) c.26397T>A (p.Leu8799=) c.26385T>A (p.Leu8795=) c.26235T>A (p.Leu8745=) c.24675T>A (p.Leu8225=) c.24168T>A (p.Leu8056=) c.19635T>A (p.Leu6545=) c.26373T>A (p.Leu8791=) c.26322T>A (p.Leu8774=) c.26286T>A (p.Leu8762=) c.26133T>A (p.Leu8711=) | |
6 | g.152122578A>C | CA366088957 | ESR1,SYNE1 | c.2786T>G (p.Leu929Arg) c.26252T>G (p.Leu8751Arg) c.26108T>G (p.Leu8703Arg) c.1595T>G c.1970T>G c.1837T>G c.2102T>G (n.2102T>G) c.25037T>G (p.Leu8346Arg) n.3000T>G c.5028T>G (n.5028T>G) n.9944T>G c.4131T>G (n.4131T>G) n.9836T>G c.851-2688A>C (n.851-2688A>C) n.2866T>G n.6889T>G c.2717T>G (p.Leu906Arg) c.26399T>G (p.Leu8800Arg) c.26387T>G (p.Leu8796Arg) c.26378T>G (p.Leu8793Arg) c.26357T>G (p.Leu8786Arg) c.26348T>G (p.Leu8783Arg) c.26342T>G (p.Leu8781Arg) c.26330T>G (p.Leu8777Arg) c.26327T>G (p.Leu8776Arg) c.26288T>G (p.Leu8763Arg) c.26273T>G (p.Leu8758Arg) c.26258T>G (p.Leu8753Arg) c.26246T>G (p.Leu8749Arg) c.26243T>G (p.Leu8748Arg) c.26240T>G (p.Leu8747Arg) c.*63T>G (n.*63T>G) c.26396T>G (p.Leu8799Arg) c.26384T>G (p.Leu8795Arg) c.26234T>G (p.Leu8745Arg) c.24674T>G (p.Leu8225Arg) c.24167T>G (p.Leu8056Arg) c.19634T>G (p.Leu6545Arg) c.26372T>G (p.Leu8791Arg) c.26321T>G (p.Leu8774Arg) c.26285T>G (p.Leu8762Arg) c.26132T>G (p.Leu8711Arg) | |
6 | g.152122578A>G | CA366088959 | ESR1,SYNE1 | c.2786T>C (p.Leu929Pro) c.26252T>C (p.Leu8751Pro) c.26108T>C (p.Leu8703Pro) c.1595T>C c.1970T>C c.1837T>C c.2102T>C (n.2102T>C) c.25037T>C (p.Leu8346Pro) n.3000T>C c.5028T>C (n.5028T>C) n.9944T>C c.4131T>C (n.4131T>C) n.9836T>C c.851-2688A>G (n.851-2688A>G) n.2866T>C n.6889T>C c.2717T>C (p.Leu906Pro) c.26399T>C (p.Leu8800Pro) c.26387T>C (p.Leu8796Pro) c.26378T>C (p.Leu8793Pro) c.26357T>C (p.Leu8786Pro) c.26348T>C (p.Leu8783Pro) c.26342T>C (p.Leu8781Pro) c.26330T>C (p.Leu8777Pro) c.26327T>C (p.Leu8776Pro) c.26288T>C (p.Leu8763Pro) c.26273T>C (p.Leu8758Pro) c.26258T>C (p.Leu8753Pro) c.26246T>C (p.Leu8749Pro) c.26243T>C (p.Leu8748Pro) c.26240T>C (p.Leu8747Pro) c.*63T>C (n.*63T>C) c.26396T>C (p.Leu8799Pro) c.26384T>C (p.Leu8795Pro) c.26234T>C (p.Leu8745Pro) c.24674T>C (p.Leu8225Pro) c.24167T>C (p.Leu8056Pro) c.19634T>C (p.Leu6545Pro) c.26372T>C (p.Leu8791Pro) c.26321T>C (p.Leu8774Pro) c.26285T>C (p.Leu8762Pro) c.26132T>C (p.Leu8711Pro) | |
6 | g.152122578A>T | CA366088961 | ESR1,SYNE1 | c.2786T>A (p.Leu929His) c.26252T>A (p.Leu8751His) c.26108T>A (p.Leu8703His) c.1595T>A c.1970T>A c.1837T>A c.2102T>A (n.2102T>A) c.25037T>A (p.Leu8346His) n.3000T>A c.5028T>A (n.5028T>A) n.9944T>A c.4131T>A (n.4131T>A) n.9836T>A c.851-2688A>T (n.851-2688A>T) n.2866T>A n.6889T>A c.2717T>A (p.Leu906His) c.26399T>A (p.Leu8800His) c.26387T>A (p.Leu8796His) c.26378T>A (p.Leu8793His) c.26357T>A (p.Leu8786His) c.26348T>A (p.Leu8783His) c.26342T>A (p.Leu8781His) c.26330T>A (p.Leu8777His) c.26327T>A (p.Leu8776His) c.26288T>A (p.Leu8763His) c.26273T>A (p.Leu8758His) c.26258T>A (p.Leu8753His) c.26246T>A (p.Leu8749His) c.26243T>A (p.Leu8748His) c.26240T>A (p.Leu8747His) c.*63T>A (n.*63T>A) c.26396T>A (p.Leu8799His) c.26384T>A (p.Leu8795His) c.26234T>A (p.Leu8745His) c.24674T>A (p.Leu8225His) c.24167T>A (p.Leu8056His) c.19634T>A (p.Leu6545His) c.26372T>A (p.Leu8791His) c.26321T>A (p.Leu8774His) c.26285T>A (p.Leu8762His) c.26132T>A (p.Leu8711His) | |
6 | g.152122579G>A | CA366088963 | ESR1,SYNE1 | c.2785C>T (p.Leu929Phe) c.26251C>T (p.Leu8751Phe) c.26107C>T (p.Leu8703Phe) c.1594C>T c.1969C>T c.1836C>T c.2101C>T (n.2101C>T) c.25036C>T (p.Leu8346Phe) n.2999C>T c.5027C>T (n.5027C>T) n.9943C>T c.4130C>T (n.4130C>T) n.9835C>T c.851-2687G>A (n.851-2687G>A) n.2865C>T n.6888C>T c.2716C>T (p.Leu906Phe) c.26398C>T (p.Leu8800Phe) c.26386C>T (p.Leu8796Phe) c.26377C>T (p.Leu8793Phe) c.26356C>T (p.Leu8786Phe) c.26347C>T (p.Leu8783Phe) c.26341C>T (p.Leu8781Phe) c.26329C>T (p.Leu8777Phe) c.26326C>T (p.Leu8776Phe) c.26287C>T (p.Leu8763Phe) c.26272C>T (p.Leu8758Phe) c.26257C>T (p.Leu8753Phe) c.26245C>T (p.Leu8749Phe) c.26242C>T (p.Leu8748Phe) c.26239C>T (p.Leu8747Phe) c.*62C>T (n.*62C>T) c.26395C>T (p.Leu8799Phe) c.26383C>T (p.Leu8795Phe) c.26233C>T (p.Leu8745Phe) c.24673C>T (p.Leu8225Phe) c.24166C>T (p.Leu8056Phe) c.19633C>T (p.Leu6545Phe) c.26371C>T (p.Leu8791Phe) c.26320C>T (p.Leu8774Phe) c.26284C>T (p.Leu8762Phe) c.26131C>T (p.Leu8711Phe) | |
6 | g.152122579G>C | CA366088965 | ESR1,SYNE1 | c.2785C>G (p.Leu929Val) c.26251C>G (p.Leu8751Val) c.26107C>G (p.Leu8703Val) c.1594C>G c.1969C>G c.1836C>G c.2101C>G (n.2101C>G) c.25036C>G (p.Leu8346Val) n.2999C>G c.5027C>G (n.5027C>G) n.9943C>G c.4130C>G (n.4130C>G) n.9835C>G c.851-2687G>C (n.851-2687G>C) n.2865C>G n.6888C>G c.2716C>G (p.Leu906Val) c.26398C>G (p.Leu8800Val) c.26386C>G (p.Leu8796Val) c.26377C>G (p.Leu8793Val) c.26356C>G (p.Leu8786Val) c.26347C>G (p.Leu8783Val) c.26341C>G (p.Leu8781Val) c.26329C>G (p.Leu8777Val) c.26326C>G (p.Leu8776Val) c.26287C>G (p.Leu8763Val) c.26272C>G (p.Leu8758Val) c.26257C>G (p.Leu8753Val) c.26245C>G (p.Leu8749Val) c.26242C>G (p.Leu8748Val) c.26239C>G (p.Leu8747Val) c.*62C>G (n.*62C>G) c.26395C>G (p.Leu8799Val) c.26383C>G (p.Leu8795Val) c.26233C>G (p.Leu8745Val) c.24673C>G (p.Leu8225Val) c.24166C>G (p.Leu8056Val) c.19633C>G (p.Leu6545Val) c.26371C>G (p.Leu8791Val) c.26320C>G (p.Leu8774Val) c.26284C>G (p.Leu8762Val) c.26131C>G (p.Leu8711Val) | |
6 | g.152122579G>T | CA366088967 | ESR1,SYNE1 | c.2785C>A (p.Leu929Ile) c.26251C>A (p.Leu8751Ile) c.26107C>A (p.Leu8703Ile) c.1594C>A c.1969C>A c.1836C>A c.2101C>A (n.2101C>A) c.25036C>A (p.Leu8346Ile) n.2999C>A c.5027C>A (n.5027C>A) n.9943C>A c.4130C>A (n.4130C>A) n.9835C>A c.851-2687G>T (n.851-2687G>T) n.2865C>A n.6888C>A c.2716C>A (p.Leu906Ile) c.26398C>A (p.Leu8800Ile) c.26386C>A (p.Leu8796Ile) c.26377C>A (p.Leu8793Ile) c.26356C>A (p.Leu8786Ile) c.26347C>A (p.Leu8783Ile) c.26341C>A (p.Leu8781Ile) c.26329C>A (p.Leu8777Ile) c.26326C>A (p.Leu8776Ile) c.26287C>A (p.Leu8763Ile) c.26272C>A (p.Leu8758Ile) c.26257C>A (p.Leu8753Ile) c.26245C>A (p.Leu8749Ile) c.26242C>A (p.Leu8748Ile) c.26239C>A (p.Leu8747Ile) c.*62C>A (n.*62C>A) c.26395C>A (p.Leu8799Ile) c.26383C>A (p.Leu8795Ile) c.26233C>A (p.Leu8745Ile) c.24673C>A (p.Leu8225Ile) c.24166C>A (p.Leu8056Ile) c.19633C>A (p.Leu6545Ile) c.26371C>A (p.Leu8791Ile) c.26320C>A (p.Leu8774Ile) c.26284C>A (p.Leu8762Ile) c.26131C>A (p.Leu8711Ile) | |
6 | g.152122580G>A | CA452969569 | ESR1,SYNE1 | c.2784C>T (p.Pro928=) c.26250C>T (p.Pro8750=) c.26106C>T (p.Pro8702=) c.1593C>T c.1968C>T c.1835C>T c.2100C>T (n.2100C>T) c.25035C>T (p.Pro8345=) n.2998C>T c.5026C>T (n.5026C>T) n.9942C>T c.4129C>T (n.4129C>T) n.9834C>T c.851-2686G>A (n.851-2686G>A) n.2864C>T n.6887C>T c.2715C>T (p.Pro905=) c.26397C>T (p.Pro8799=) c.26385C>T (p.Pro8795=) c.26376C>T (p.Pro8792=) c.26355C>T (p.Pro8785=) c.26346C>T (p.Pro8782=) c.26340C>T (p.Pro8780=) c.26328C>T (p.Pro8776=) c.26325C>T (p.Pro8775=) c.26286C>T (p.Pro8762=) c.26271C>T (p.Pro8757=) c.26256C>T (p.Pro8752=) c.26244C>T (p.Pro8748=) c.26241C>T (p.Pro8747=) c.26238C>T (p.Pro8746=) c.*61C>T (n.*61C>T) c.26394C>T (p.Pro8798=) c.26382C>T (p.Pro8794=) c.26232C>T (p.Pro8744=) c.24672C>T (p.Pro8224=) c.24165C>T (p.Pro8055=) c.19632C>T (p.Pro6544=) c.26370C>T (p.Pro8790=) c.26319C>T (p.Pro8773=) c.26283C>T (p.Pro8761=) c.26130C>T (p.Pro8710=) | gnomAD v4 |
6 | g.152122580G>C | CA452969567 | ESR1,SYNE1 | c.2784C>G (p.Pro928=) c.26250C>G (p.Pro8750=) c.26106C>G (p.Pro8702=) c.1593C>G c.1968C>G c.1835C>G c.2100C>G (n.2100C>G) c.25035C>G (p.Pro8345=) n.2998C>G c.5026C>G (n.5026C>G) n.9942C>G c.4129C>G (n.4129C>G) n.9834C>G c.851-2686G>C (n.851-2686G>C) n.2864C>G n.6887C>G c.2715C>G (p.Pro905=) c.26397C>G (p.Pro8799=) c.26385C>G (p.Pro8795=) c.26376C>G (p.Pro8792=) c.26355C>G (p.Pro8785=) c.26346C>G (p.Pro8782=) c.26340C>G (p.Pro8780=) c.26328C>G (p.Pro8776=) c.26325C>G (p.Pro8775=) c.26286C>G (p.Pro8762=) c.26271C>G (p.Pro8757=) c.26256C>G (p.Pro8752=) c.26244C>G (p.Pro8748=) c.26241C>G (p.Pro8747=) c.26238C>G (p.Pro8746=) c.*61C>G (n.*61C>G) c.26394C>G (p.Pro8798=) c.26382C>G (p.Pro8794=) c.26232C>G (p.Pro8744=) c.24672C>G (p.Pro8224=) c.24165C>G (p.Pro8055=) c.19632C>G (p.Pro6544=) c.26370C>G (p.Pro8790=) c.26319C>G (p.Pro8773=) c.26283C>G (p.Pro8761=) c.26130C>G (p.Pro8710=) | |
6 | g.152122580G>T | CA452969568 | ESR1,SYNE1 | c.2784C>A (p.Pro928=) c.26250C>A (p.Pro8750=) c.26106C>A (p.Pro8702=) c.1593C>A c.1968C>A c.1835C>A c.2100C>A (n.2100C>A) c.25035C>A (p.Pro8345=) n.2998C>A c.5026C>A (n.5026C>A) n.9942C>A c.4129C>A (n.4129C>A) n.9834C>A c.851-2686G>T (n.851-2686G>T) n.2864C>A n.6887C>A c.2715C>A (p.Pro905=) c.26397C>A (p.Pro8799=) c.26385C>A (p.Pro8795=) c.26376C>A (p.Pro8792=) c.26355C>A (p.Pro8785=) c.26346C>A (p.Pro8782=) c.26340C>A (p.Pro8780=) c.26328C>A (p.Pro8776=) c.26325C>A (p.Pro8775=) c.26286C>A (p.Pro8762=) c.26271C>A (p.Pro8757=) c.26256C>A (p.Pro8752=) c.26244C>A (p.Pro8748=) c.26241C>A (p.Pro8747=) c.26238C>A (p.Pro8746=) c.*61C>A (n.*61C>A) c.26394C>A (p.Pro8798=) c.26382C>A (p.Pro8794=) c.26232C>A (p.Pro8744=) c.24672C>A (p.Pro8224=) c.24165C>A (p.Pro8055=) c.19632C>A (p.Pro6544=) c.26370C>A (p.Pro8790=) c.26319C>A (p.Pro8773=) c.26283C>A (p.Pro8761=) c.26130C>A (p.Pro8710=) | |
6 | g.152122581G>A | CA366088973 | ESR1,SYNE1 | c.2783C>T (p.Pro928Leu) c.26249C>T (p.Pro8750Leu) c.26105C>T (p.Pro8702Leu) c.1592C>T c.1967C>T c.1834C>T c.2099C>T (n.2099C>T) c.25034C>T (p.Pro8345Leu) n.2997C>T c.5025C>T (n.5025C>T) n.9941C>T c.4128C>T (n.4128C>T) n.9833C>T c.851-2685G>A (n.851-2685G>A) n.2863C>T n.6886C>T c.2714C>T (p.Pro905Leu) c.26396C>T (p.Pro8799Leu) c.26384C>T (p.Pro8795Leu) c.26375C>T (p.Pro8792Leu) c.26354C>T (p.Pro8785Leu) c.26345C>T (p.Pro8782Leu) c.26339C>T (p.Pro8780Leu) c.26327C>T (p.Pro8776Leu) c.26324C>T (p.Pro8775Leu) c.26285C>T (p.Pro8762Leu) c.26270C>T (p.Pro8757Leu) c.26255C>T (p.Pro8752Leu) c.26243C>T (p.Pro8748Leu) c.26240C>T (p.Pro8747Leu) c.26237C>T (p.Pro8746Leu) c.*60C>T (n.*60C>T) c.26393C>T (p.Pro8798Leu) c.26381C>T (p.Pro8794Leu) c.26231C>T (p.Pro8744Leu) c.24671C>T (p.Pro8224Leu) c.24164C>T (p.Pro8055Leu) c.19631C>T (p.Pro6544Leu) c.26369C>T (p.Pro8790Leu) c.26318C>T (p.Pro8773Leu) c.26282C>T (p.Pro8761Leu) c.26129C>T (p.Pro8710Leu) | |
6 | g.152122581G>C | CA366088971 | ESR1,SYNE1 | c.2783C>G (p.Pro928Arg) c.26249C>G (p.Pro8750Arg) c.26105C>G (p.Pro8702Arg) c.1592C>G c.1967C>G c.1834C>G c.2099C>G (n.2099C>G) c.25034C>G (p.Pro8345Arg) n.2997C>G c.5025C>G (n.5025C>G) n.9941C>G c.4128C>G (n.4128C>G) n.9833C>G c.851-2685G>C (n.851-2685G>C) n.2863C>G n.6886C>G c.2714C>G (p.Pro905Arg) c.26396C>G (p.Pro8799Arg) c.26384C>G (p.Pro8795Arg) c.26375C>G (p.Pro8792Arg) c.26354C>G (p.Pro8785Arg) c.26345C>G (p.Pro8782Arg) c.26339C>G (p.Pro8780Arg) c.26327C>G (p.Pro8776Arg) c.26324C>G (p.Pro8775Arg) c.26285C>G (p.Pro8762Arg) c.26270C>G (p.Pro8757Arg) c.26255C>G (p.Pro8752Arg) c.26243C>G (p.Pro8748Arg) c.26240C>G (p.Pro8747Arg) c.26237C>G (p.Pro8746Arg) c.*60C>G (n.*60C>G) c.26393C>G (p.Pro8798Arg) c.26381C>G (p.Pro8794Arg) c.26231C>G (p.Pro8744Arg) c.24671C>G (p.Pro8224Arg) c.24164C>G (p.Pro8055Arg) c.19631C>G (p.Pro6544Arg) c.26369C>G (p.Pro8790Arg) c.26318C>G (p.Pro8773Arg) c.26282C>G (p.Pro8761Arg) c.26129C>G (p.Pro8710Arg) | |
6 | g.152122581G>T | CA366088970 | ESR1,SYNE1 | c.2783C>A (p.Pro928His) c.26249C>A (p.Pro8750His) c.26105C>A (p.Pro8702His) c.1592C>A c.1967C>A c.1834C>A c.2099C>A (n.2099C>A) c.25034C>A (p.Pro8345His) n.2997C>A c.5025C>A (n.5025C>A) n.9941C>A c.4128C>A (n.4128C>A) n.9833C>A c.851-2685G>T (n.851-2685G>T) n.2863C>A n.6886C>A c.2714C>A (p.Pro905His) c.26396C>A (p.Pro8799His) c.26384C>A (p.Pro8795His) c.26375C>A (p.Pro8792His) c.26354C>A (p.Pro8785His) c.26345C>A (p.Pro8782His) c.26339C>A (p.Pro8780His) c.26327C>A (p.Pro8776His) c.26324C>A (p.Pro8775His) c.26285C>A (p.Pro8762His) c.26270C>A (p.Pro8757His) c.26255C>A (p.Pro8752His) c.26243C>A (p.Pro8748His) c.26240C>A (p.Pro8747His) c.26237C>A (p.Pro8746His) c.*60C>A (n.*60C>A) c.26393C>A (p.Pro8798His) c.26381C>A (p.Pro8794His) c.26231C>A (p.Pro8744His) c.24671C>A (p.Pro8224His) c.24164C>A (p.Pro8055His) c.19631C>A (p.Pro6544His) c.26369C>A (p.Pro8790His) c.26318C>A (p.Pro8773His) c.26282C>A (p.Pro8761His) c.26129C>A (p.Pro8710His) | |
6 | g.152122582G>A | CA366088975 | ESR1,SYNE1 | c.2782C>T (p.Pro928Ser) c.26248C>T (p.Pro8750Ser) c.26104C>T (p.Pro8702Ser) c.1591C>T c.1966C>T c.1833C>T c.2098C>T (n.2098C>T) c.25033C>T (p.Pro8345Ser) n.2996C>T c.5024C>T (n.5024C>T) n.9940C>T c.4127C>T (n.4127C>T) n.9832C>T c.851-2684G>A (n.851-2684G>A) n.2862C>T n.6885C>T c.2713C>T (p.Pro905Ser) c.26395C>T (p.Pro8799Ser) c.26383C>T (p.Pro8795Ser) c.26374C>T (p.Pro8792Ser) c.26353C>T (p.Pro8785Ser) c.26344C>T (p.Pro8782Ser) c.26338C>T (p.Pro8780Ser) c.26326C>T (p.Pro8776Ser) c.26323C>T (p.Pro8775Ser) c.26284C>T (p.Pro8762Ser) c.26269C>T (p.Pro8757Ser) c.26254C>T (p.Pro8752Ser) c.26242C>T (p.Pro8748Ser) c.26239C>T (p.Pro8747Ser) c.26236C>T (p.Pro8746Ser) c.*59C>T (n.*59C>T) c.26392C>T (p.Pro8798Ser) c.26380C>T (p.Pro8794Ser) c.26230C>T (p.Pro8744Ser) c.24670C>T (p.Pro8224Ser) c.24163C>T (p.Pro8055Ser) c.19630C>T (p.Pro6544Ser) c.26368C>T (p.Pro8790Ser) c.26317C>T (p.Pro8773Ser) c.26281C>T (p.Pro8761Ser) c.26128C>T (p.Pro8710Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122582G>C | CA366088978 | ESR1,SYNE1 | c.2782C>G (p.Pro928Ala) c.26248C>G (p.Pro8750Ala) c.26104C>G (p.Pro8702Ala) c.1591C>G c.1966C>G c.1833C>G c.2098C>G (n.2098C>G) c.25033C>G (p.Pro8345Ala) n.2996C>G c.5024C>G (n.5024C>G) n.9940C>G c.4127C>G (n.4127C>G) n.9832C>G c.851-2684G>C (n.851-2684G>C) n.2862C>G n.6885C>G c.2713C>G (p.Pro905Ala) c.26395C>G (p.Pro8799Ala) c.26383C>G (p.Pro8795Ala) c.26374C>G (p.Pro8792Ala) c.26353C>G (p.Pro8785Ala) c.26344C>G (p.Pro8782Ala) c.26338C>G (p.Pro8780Ala) c.26326C>G (p.Pro8776Ala) c.26323C>G (p.Pro8775Ala) c.26284C>G (p.Pro8762Ala) c.26269C>G (p.Pro8757Ala) c.26254C>G (p.Pro8752Ala) c.26242C>G (p.Pro8748Ala) c.26239C>G (p.Pro8747Ala) c.26236C>G (p.Pro8746Ala) c.*59C>G (n.*59C>G) c.26392C>G (p.Pro8798Ala) c.26380C>G (p.Pro8794Ala) c.26230C>G (p.Pro8744Ala) c.24670C>G (p.Pro8224Ala) c.24163C>G (p.Pro8055Ala) c.19630C>G (p.Pro6544Ala) c.26368C>G (p.Pro8790Ala) c.26317C>G (p.Pro8773Ala) c.26281C>G (p.Pro8761Ala) c.26128C>G (p.Pro8710Ala) | |
6 | g.152122582G= | CA1673189037 | ESR1,SYNE1 | c.2782C= (p.Pro928=) c.26248C= (p.Pro8750=) c.26104C= (p.Pro8702=) c.1591C= c.1966C= c.1833C= c.2098C= (n.2098C=) c.25033C= (p.Pro8345=) n.2996C= c.5024C= (n.5024C=) n.9940C= c.4127C= (n.4127C=) n.9832C= c.851-2684G= (n.851-2684G=) n.2862C= n.6885C= c.2713C= (p.Pro905=) c.26395C= (p.Pro8799=) c.26383C= (p.Pro8795=) c.26374C= (p.Pro8792=) c.26353C= (p.Pro8785=) c.26344C= (p.Pro8782=) c.26338C= (p.Pro8780=) c.26326C= (p.Pro8776=) c.26323C= (p.Pro8775=) c.26284C= (p.Pro8762=) c.26269C= (p.Pro8757=) c.26254C= (p.Pro8752=) c.26242C= (p.Pro8748=) c.26239C= (p.Pro8747=) c.26236C= (p.Pro8746=) c.*59C= (n.*59C=) c.26392C= (p.Pro8798=) c.26380C= (p.Pro8794=) c.26230C= (p.Pro8744=) c.24670C= (p.Pro8224=) c.24163C= (p.Pro8055=) c.19630C= (p.Pro6544=) c.26368C= (p.Pro8790=) c.26317C= (p.Pro8773=) c.26281C= (p.Pro8761=) c.26128C= (p.Pro8710=) | |
6 | g.152122582G>T | CA366088977 | ESR1,SYNE1 | c.2782C>A (p.Pro928Thr) c.26248C>A (p.Pro8750Thr) c.26104C>A (p.Pro8702Thr) c.1591C>A c.1966C>A c.1833C>A c.2098C>A (n.2098C>A) c.25033C>A (p.Pro8345Thr) n.2996C>A c.5024C>A (n.5024C>A) n.9940C>A c.4127C>A (n.4127C>A) n.9832C>A c.851-2684G>T (n.851-2684G>T) n.2862C>A n.6885C>A c.2713C>A (p.Pro905Thr) c.26395C>A (p.Pro8799Thr) c.26383C>A (p.Pro8795Thr) c.26374C>A (p.Pro8792Thr) c.26353C>A (p.Pro8785Thr) c.26344C>A (p.Pro8782Thr) c.26338C>A (p.Pro8780Thr) c.26326C>A (p.Pro8776Thr) c.26323C>A (p.Pro8775Thr) c.26284C>A (p.Pro8762Thr) c.26269C>A (p.Pro8757Thr) c.26254C>A (p.Pro8752Thr) c.26242C>A (p.Pro8748Thr) c.26239C>A (p.Pro8747Thr) c.26236C>A (p.Pro8746Thr) c.*59C>A (n.*59C>A) c.26392C>A (p.Pro8798Thr) c.26380C>A (p.Pro8794Thr) c.26230C>A (p.Pro8744Thr) c.24670C>A (p.Pro8224Thr) c.24163C>A (p.Pro8055Thr) c.19630C>A (p.Pro6544Thr) c.26368C>A (p.Pro8790Thr) c.26317C>A (p.Pro8773Thr) c.26281C>A (p.Pro8761Thr) c.26128C>A (p.Pro8710Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122583A>C | CA452969577 | ESR1,SYNE1 | c.2781T>G (p.Leu927=) c.26247T>G (p.Leu8749=) c.26103T>G (p.Leu8701=) c.1590T>G c.1965T>G c.1832T>G c.2097T>G (n.2097T>G) c.25032T>G (p.Leu8344=) n.2995T>G c.5023T>G (n.5023T>G) n.9939T>G c.4126T>G (n.4126T>G) n.9831T>G c.851-2683A>C (n.851-2683A>C) n.2861T>G n.6884T>G c.2712T>G (p.Leu904=) c.26394T>G (p.Leu8798=) c.26382T>G (p.Leu8794=) c.26373T>G (p.Leu8791=) c.26352T>G (p.Leu8784=) c.26343T>G (p.Leu8781=) c.26337T>G (p.Leu8779=) c.26325T>G (p.Leu8775=) c.26322T>G (p.Leu8774=) c.26283T>G (p.Leu8761=) c.26268T>G (p.Leu8756=) c.26253T>G (p.Leu8751=) c.26241T>G (p.Leu8747=) c.26238T>G (p.Leu8746=) c.26235T>G (p.Leu8745=) c.*58T>G (n.*58T>G) c.26391T>G (p.Leu8797=) c.26379T>G (p.Leu8793=) c.26229T>G (p.Leu8743=) c.24669T>G (p.Leu8223=) c.24162T>G (p.Leu8054=) c.19629T>G (p.Leu6543=) c.26367T>G (p.Leu8789=) c.26316T>G (p.Leu8772=) c.26280T>G (p.Leu8760=) c.26127T>G (p.Leu8709=) | |
6 | g.152122583A>G | CA452969578 | ESR1,SYNE1 | c.2781T>C (p.Leu927=) c.26247T>C (p.Leu8749=) c.26103T>C (p.Leu8701=) c.1590T>C c.1965T>C c.1832T>C c.2097T>C (n.2097T>C) c.25032T>C (p.Leu8344=) n.2995T>C c.5023T>C (n.5023T>C) n.9939T>C c.4126T>C (n.4126T>C) n.9831T>C c.851-2683A>G (n.851-2683A>G) n.2861T>C n.6884T>C c.2712T>C (p.Leu904=) c.26394T>C (p.Leu8798=) c.26382T>C (p.Leu8794=) c.26373T>C (p.Leu8791=) c.26352T>C (p.Leu8784=) c.26343T>C (p.Leu8781=) c.26337T>C (p.Leu8779=) c.26325T>C (p.Leu8775=) c.26322T>C (p.Leu8774=) c.26283T>C (p.Leu8761=) c.26268T>C (p.Leu8756=) c.26253T>C (p.Leu8751=) c.26241T>C (p.Leu8747=) c.26238T>C (p.Leu8746=) c.26235T>C (p.Leu8745=) c.*58T>C (n.*58T>C) c.26391T>C (p.Leu8797=) c.26379T>C (p.Leu8793=) c.26229T>C (p.Leu8743=) c.24669T>C (p.Leu8223=) c.24162T>C (p.Leu8054=) c.19629T>C (p.Leu6543=) c.26367T>C (p.Leu8789=) c.26316T>C (p.Leu8772=) c.26280T>C (p.Leu8760=) c.26127T>C (p.Leu8709=) | |
6 | g.152122583A>T | CA452969581 | ESR1,SYNE1 | c.2781T>A (p.Leu927=) c.26247T>A (p.Leu8749=) c.26103T>A (p.Leu8701=) c.1590T>A c.1965T>A c.1832T>A c.2097T>A (n.2097T>A) c.25032T>A (p.Leu8344=) n.2995T>A c.5023T>A (n.5023T>A) n.9939T>A c.4126T>A (n.4126T>A) n.9831T>A c.851-2683A>T (n.851-2683A>T) n.2861T>A n.6884T>A c.2712T>A (p.Leu904=) c.26394T>A (p.Leu8798=) c.26382T>A (p.Leu8794=) c.26373T>A (p.Leu8791=) c.26352T>A (p.Leu8784=) c.26343T>A (p.Leu8781=) c.26337T>A (p.Leu8779=) c.26325T>A (p.Leu8775=) c.26322T>A (p.Leu8774=) c.26283T>A (p.Leu8761=) c.26268T>A (p.Leu8756=) c.26253T>A (p.Leu8751=) c.26241T>A (p.Leu8747=) c.26238T>A (p.Leu8746=) c.26235T>A (p.Leu8745=) c.*58T>A (n.*58T>A) c.26391T>A (p.Leu8797=) c.26379T>A (p.Leu8793=) c.26229T>A (p.Leu8743=) c.24669T>A (p.Leu8223=) c.24162T>A (p.Leu8054=) c.19629T>A (p.Leu6543=) c.26367T>A (p.Leu8789=) c.26316T>A (p.Leu8772=) c.26280T>A (p.Leu8760=) c.26127T>A (p.Leu8709=) | |
6 | g.152122584A>C | CA366088982 | ESR1,SYNE1 | c.2780T>G (p.Leu927Arg) c.26246T>G (p.Leu8749Arg) c.26102T>G (p.Leu8701Arg) c.1589T>G c.1964T>G c.1831T>G c.2096T>G (n.2096T>G) c.25031T>G (p.Leu8344Arg) n.2994T>G c.5022T>G (n.5022T>G) n.9938T>G c.4125T>G (n.4125T>G) n.9830T>G c.851-2682A>C (n.851-2682A>C) n.2860T>G n.6883T>G c.2711T>G (p.Leu904Arg) c.26393T>G (p.Leu8798Arg) c.26381T>G (p.Leu8794Arg) c.26372T>G (p.Leu8791Arg) c.26351T>G (p.Leu8784Arg) c.26342T>G (p.Leu8781Arg) c.26336T>G (p.Leu8779Arg) c.26324T>G (p.Leu8775Arg) c.26321T>G (p.Leu8774Arg) c.26282T>G (p.Leu8761Arg) c.26267T>G (p.Leu8756Arg) c.26252T>G (p.Leu8751Arg) c.26240T>G (p.Leu8747Arg) c.26237T>G (p.Leu8746Arg) c.26234T>G (p.Leu8745Arg) c.*57T>G (n.*57T>G) c.26390T>G (p.Leu8797Arg) c.26378T>G (p.Leu8793Arg) c.26228T>G (p.Leu8743Arg) c.24668T>G (p.Leu8223Arg) c.24161T>G (p.Leu8054Arg) c.19628T>G (p.Leu6543Arg) c.26366T>G (p.Leu8789Arg) c.26315T>G (p.Leu8772Arg) c.26279T>G (p.Leu8760Arg) c.26126T>G (p.Leu8709Arg) | gnomAD v4 |
6 | g.152122584A>G | CA366088984 | ESR1,SYNE1 | c.2780T>C (p.Leu927Pro) c.26246T>C (p.Leu8749Pro) c.26102T>C (p.Leu8701Pro) c.1589T>C c.1964T>C c.1831T>C c.2096T>C (n.2096T>C) c.25031T>C (p.Leu8344Pro) n.2994T>C c.5022T>C (n.5022T>C) n.9938T>C c.4125T>C (n.4125T>C) n.9830T>C c.851-2682A>G (n.851-2682A>G) n.2860T>C n.6883T>C c.2711T>C (p.Leu904Pro) c.26393T>C (p.Leu8798Pro) c.26381T>C (p.Leu8794Pro) c.26372T>C (p.Leu8791Pro) c.26351T>C (p.Leu8784Pro) c.26342T>C (p.Leu8781Pro) c.26336T>C (p.Leu8779Pro) c.26324T>C (p.Leu8775Pro) c.26321T>C (p.Leu8774Pro) c.26282T>C (p.Leu8761Pro) c.26267T>C (p.Leu8756Pro) c.26252T>C (p.Leu8751Pro) c.26240T>C (p.Leu8747Pro) c.26237T>C (p.Leu8746Pro) c.26234T>C (p.Leu8745Pro) c.*57T>C (n.*57T>C) c.26390T>C (p.Leu8797Pro) c.26378T>C (p.Leu8793Pro) c.26228T>C (p.Leu8743Pro) c.24668T>C (p.Leu8223Pro) c.24161T>C (p.Leu8054Pro) c.19628T>C (p.Leu6543Pro) c.26366T>C (p.Leu8789Pro) c.26315T>C (p.Leu8772Pro) c.26279T>C (p.Leu8760Pro) c.26126T>C (p.Leu8709Pro) | gnomAD v4 |
6 | g.152122584A>T | CA366088986 | ESR1,SYNE1 | c.2780T>A (p.Leu927His) c.26246T>A (p.Leu8749His) c.26102T>A (p.Leu8701His) c.1589T>A c.1964T>A c.1831T>A c.2096T>A (n.2096T>A) c.25031T>A (p.Leu8344His) n.2994T>A c.5022T>A (n.5022T>A) n.9938T>A c.4125T>A (n.4125T>A) n.9830T>A c.851-2682A>T (n.851-2682A>T) n.2860T>A n.6883T>A c.2711T>A (p.Leu904His) c.26393T>A (p.Leu8798His) c.26381T>A (p.Leu8794His) c.26372T>A (p.Leu8791His) c.26351T>A (p.Leu8784His) c.26342T>A (p.Leu8781His) c.26336T>A (p.Leu8779His) c.26324T>A (p.Leu8775His) c.26321T>A (p.Leu8774His) c.26282T>A (p.Leu8761His) c.26267T>A (p.Leu8756His) c.26252T>A (p.Leu8751His) c.26240T>A (p.Leu8747His) c.26237T>A (p.Leu8746His) c.26234T>A (p.Leu8745His) c.*57T>A (n.*57T>A) c.26390T>A (p.Leu8797His) c.26378T>A (p.Leu8793His) c.26228T>A (p.Leu8743His) c.24668T>A (p.Leu8223His) c.24161T>A (p.Leu8054His) c.19628T>A (p.Leu6543His) c.26366T>A (p.Leu8789His) c.26315T>A (p.Leu8772His) c.26279T>A (p.Leu8760His) c.26126T>A (p.Leu8709His) | |
6 | g.152122585G>A | CA366088988 | ESR1,SYNE1 | c.2779C>T (p.Leu927Phe) c.26245C>T (p.Leu8749Phe) c.26101C>T (p.Leu8701Phe) c.1588C>T c.1963C>T c.1830C>T c.2095C>T (n.2095C>T) c.25030C>T (p.Leu8344Phe) n.2993C>T c.5021C>T (n.5021C>T) n.9937C>T c.4124C>T (n.4124C>T) n.9829C>T c.851-2681G>A (n.851-2681G>A) n.2859C>T n.6882C>T c.2710C>T (p.Leu904Phe) c.26392C>T (p.Leu8798Phe) c.26380C>T (p.Leu8794Phe) c.26371C>T (p.Leu8791Phe) c.26350C>T (p.Leu8784Phe) c.26341C>T (p.Leu8781Phe) c.26335C>T (p.Leu8779Phe) c.26323C>T (p.Leu8775Phe) c.26320C>T (p.Leu8774Phe) c.26281C>T (p.Leu8761Phe) c.26266C>T (p.Leu8756Phe) c.26251C>T (p.Leu8751Phe) c.26239C>T (p.Leu8747Phe) c.26236C>T (p.Leu8746Phe) c.26233C>T (p.Leu8745Phe) c.*56C>T (n.*56C>T) c.26389C>T (p.Leu8797Phe) c.26377C>T (p.Leu8793Phe) c.26227C>T (p.Leu8743Phe) c.24667C>T (p.Leu8223Phe) c.24160C>T (p.Leu8054Phe) c.19627C>T (p.Leu6543Phe) c.26365C>T (p.Leu8789Phe) c.26314C>T (p.Leu8772Phe) c.26278C>T (p.Leu8760Phe) c.26125C>T (p.Leu8709Phe) | gnomAD v4 |
6 | g.152122585G>C | CA366088990 | ESR1,SYNE1 | c.2779C>G (p.Leu927Val) c.26245C>G (p.Leu8749Val) c.26101C>G (p.Leu8701Val) c.1588C>G c.1963C>G c.1830C>G c.2095C>G (n.2095C>G) c.25030C>G (p.Leu8344Val) n.2993C>G c.5021C>G (n.5021C>G) n.9937C>G c.4124C>G (n.4124C>G) n.9829C>G c.851-2681G>C (n.851-2681G>C) n.2859C>G n.6882C>G c.2710C>G (p.Leu904Val) c.26392C>G (p.Leu8798Val) c.26380C>G (p.Leu8794Val) c.26371C>G (p.Leu8791Val) c.26350C>G (p.Leu8784Val) c.26341C>G (p.Leu8781Val) c.26335C>G (p.Leu8779Val) c.26323C>G (p.Leu8775Val) c.26320C>G (p.Leu8774Val) c.26281C>G (p.Leu8761Val) c.26266C>G (p.Leu8756Val) c.26251C>G (p.Leu8751Val) c.26239C>G (p.Leu8747Val) c.26236C>G (p.Leu8746Val) c.26233C>G (p.Leu8745Val) c.*56C>G (n.*56C>G) c.26389C>G (p.Leu8797Val) c.26377C>G (p.Leu8793Val) c.26227C>G (p.Leu8743Val) c.24667C>G (p.Leu8223Val) c.24160C>G (p.Leu8054Val) c.19627C>G (p.Leu6543Val) c.26365C>G (p.Leu8789Val) c.26314C>G (p.Leu8772Val) c.26278C>G (p.Leu8760Val) c.26125C>G (p.Leu8709Val) | |
6 | g.152122585G>T | CA366088992 | ESR1,SYNE1 | c.2779C>A (p.Leu927Ile) c.26245C>A (p.Leu8749Ile) c.26101C>A (p.Leu8701Ile) c.1588C>A c.1963C>A c.1830C>A c.2095C>A (n.2095C>A) c.25030C>A (p.Leu8344Ile) n.2993C>A c.5021C>A (n.5021C>A) n.9937C>A c.4124C>A (n.4124C>A) n.9829C>A c.851-2681G>T (n.851-2681G>T) n.2859C>A n.6882C>A c.2710C>A (p.Leu904Ile) c.26392C>A (p.Leu8798Ile) c.26380C>A (p.Leu8794Ile) c.26371C>A (p.Leu8791Ile) c.26350C>A (p.Leu8784Ile) c.26341C>A (p.Leu8781Ile) c.26335C>A (p.Leu8779Ile) c.26323C>A (p.Leu8775Ile) c.26320C>A (p.Leu8774Ile) c.26281C>A (p.Leu8761Ile) c.26266C>A (p.Leu8756Ile) c.26251C>A (p.Leu8751Ile) c.26239C>A (p.Leu8747Ile) c.26236C>A (p.Leu8746Ile) c.26233C>A (p.Leu8745Ile) c.*56C>A (n.*56C>A) c.26389C>A (p.Leu8797Ile) c.26377C>A (p.Leu8793Ile) c.26227C>A (p.Leu8743Ile) c.24667C>A (p.Leu8223Ile) c.24160C>A (p.Leu8054Ile) c.19627C>A (p.Leu6543Ile) c.26365C>A (p.Leu8789Ile) c.26314C>A (p.Leu8772Ile) c.26278C>A (p.Leu8760Ile) c.26125C>A (p.Leu8709Ile) | gnomAD v4 |
6 | g.152122586A>C | CA452969592 | ESR1,SYNE1 | c.2778T>G (p.Ala926=) c.26244T>G (p.Ala8748=) c.26100T>G (p.Ala8700=) c.1587T>G c.1962T>G c.1829T>G c.2094T>G (n.2094T>G) c.25029T>G (p.Ala8343=) n.2992T>G c.5020T>G (n.5020T>G) n.9936T>G c.4123T>G (n.4123T>G) n.9828T>G c.851-2680A>C (n.851-2680A>C) n.2858T>G n.6881T>G c.2709T>G (p.Ala903=) c.26391T>G (p.Ala8797=) c.26379T>G (p.Ala8793=) c.26370T>G (p.Ala8790=) c.26349T>G (p.Ala8783=) c.26340T>G (p.Ala8780=) c.26334T>G (p.Ala8778=) c.26322T>G (p.Ala8774=) c.26319T>G (p.Ala8773=) c.26280T>G (p.Ala8760=) c.26265T>G (p.Ala8755=) c.26250T>G (p.Ala8750=) c.26238T>G (p.Ala8746=) c.26235T>G (p.Ala8745=) c.26232T>G (p.Ala8744=) c.*55T>G (n.*55T>G) c.26388T>G (p.Ala8796=) c.26376T>G (p.Ala8792=) c.26226T>G (p.Ala8742=) c.24666T>G (p.Ala8222=) c.24159T>G (p.Ala8053=) c.19626T>G (p.Ala6542=) c.26364T>G (p.Ala8788=) c.26313T>G (p.Ala8771=) c.26277T>G (p.Ala8759=) c.26124T>G (p.Ala8708=) | gnomAD v4 |
6 | g.152122586A>G | CA452969589 | ESR1,SYNE1 | c.2778T>C (p.Ala926=) c.26244T>C (p.Ala8748=) c.26100T>C (p.Ala8700=) c.1587T>C c.1962T>C c.1829T>C c.2094T>C (n.2094T>C) c.25029T>C (p.Ala8343=) n.2992T>C c.5020T>C (n.5020T>C) n.9936T>C c.4123T>C (n.4123T>C) n.9828T>C c.851-2680A>G (n.851-2680A>G) n.2858T>C n.6881T>C c.2709T>C (p.Ala903=) c.26391T>C (p.Ala8797=) c.26379T>C (p.Ala8793=) c.26370T>C (p.Ala8790=) c.26349T>C (p.Ala8783=) c.26340T>C (p.Ala8780=) c.26334T>C (p.Ala8778=) c.26322T>C (p.Ala8774=) c.26319T>C (p.Ala8773=) c.26280T>C (p.Ala8760=) c.26265T>C (p.Ala8755=) c.26250T>C (p.Ala8750=) c.26238T>C (p.Ala8746=) c.26235T>C (p.Ala8745=) c.26232T>C (p.Ala8744=) c.*55T>C (n.*55T>C) c.26388T>C (p.Ala8796=) c.26376T>C (p.Ala8792=) c.26226T>C (p.Ala8742=) c.24666T>C (p.Ala8222=) c.24159T>C (p.Ala8053=) c.19626T>C (p.Ala6542=) c.26364T>C (p.Ala8788=) c.26313T>C (p.Ala8771=) c.26277T>C (p.Ala8759=) c.26124T>C (p.Ala8708=) | |
6 | g.152122586A>T | CA452969590 | ESR1,SYNE1 | c.2778T>A (p.Ala926=) c.26244T>A (p.Ala8748=) c.26100T>A (p.Ala8700=) c.1587T>A c.1962T>A c.1829T>A c.2094T>A (n.2094T>A) c.25029T>A (p.Ala8343=) n.2992T>A c.5020T>A (n.5020T>A) n.9936T>A c.4123T>A (n.4123T>A) n.9828T>A c.851-2680A>T (n.851-2680A>T) n.2858T>A n.6881T>A c.2709T>A (p.Ala903=) c.26391T>A (p.Ala8797=) c.26379T>A (p.Ala8793=) c.26370T>A (p.Ala8790=) c.26349T>A (p.Ala8783=) c.26340T>A (p.Ala8780=) c.26334T>A (p.Ala8778=) c.26322T>A (p.Ala8774=) c.26319T>A (p.Ala8773=) c.26280T>A (p.Ala8760=) c.26265T>A (p.Ala8755=) c.26250T>A (p.Ala8750=) c.26238T>A (p.Ala8746=) c.26235T>A (p.Ala8745=) c.26232T>A (p.Ala8744=) c.*55T>A (n.*55T>A) c.26388T>A (p.Ala8796=) c.26376T>A (p.Ala8792=) c.26226T>A (p.Ala8742=) c.24666T>A (p.Ala8222=) c.24159T>A (p.Ala8053=) c.19626T>A (p.Ala6542=) c.26364T>A (p.Ala8788=) c.26313T>A (p.Ala8771=) c.26277T>A (p.Ala8759=) c.26124T>A (p.Ala8708=) | |
6 | g.152122587G>A | CA366088994 | ESR1,SYNE1 | c.2777C>T (p.Ala926Val) c.26243C>T (p.Ala8748Val) c.26099C>T (p.Ala8700Val) c.1586C>T c.1961C>T c.1828C>T c.2093C>T (n.2093C>T) c.25028C>T (p.Ala8343Val) n.2991C>T c.5019C>T (n.5019C>T) n.9935C>T c.4122C>T (n.4122C>T) n.9827C>T c.851-2679G>A (n.851-2679G>A) n.2857C>T n.6880C>T c.2708C>T (p.Ala903Val) c.26390C>T (p.Ala8797Val) c.26378C>T (p.Ala8793Val) c.26369C>T (p.Ala8790Val) c.26348C>T (p.Ala8783Val) c.26339C>T (p.Ala8780Val) c.26333C>T (p.Ala8778Val) c.26321C>T (p.Ala8774Val) c.26318C>T (p.Ala8773Val) c.26279C>T (p.Ala8760Val) c.26264C>T (p.Ala8755Val) c.26249C>T (p.Ala8750Val) c.26237C>T (p.Ala8746Val) c.26234C>T (p.Ala8745Val) c.26231C>T (p.Ala8744Val) c.*54C>T (n.*54C>T) c.26387C>T (p.Ala8796Val) c.26375C>T (p.Ala8792Val) c.26225C>T (p.Ala8742Val) c.24665C>T (p.Ala8222Val) c.24158C>T (p.Ala8053Val) c.19625C>T (p.Ala6542Val) c.26363C>T (p.Ala8788Val) c.26312C>T (p.Ala8771Val) c.26276C>T (p.Ala8759Val) c.26123C>T (p.Ala8708Val) | gnomAD v4 |
6 | g.152122587G>C | CA366088996 | ESR1,SYNE1 | c.2777C>G (p.Ala926Gly) c.26243C>G (p.Ala8748Gly) c.26099C>G (p.Ala8700Gly) c.1586C>G c.1961C>G c.1828C>G c.2093C>G (n.2093C>G) c.25028C>G (p.Ala8343Gly) n.2991C>G c.5019C>G (n.5019C>G) n.9935C>G c.4122C>G (n.4122C>G) n.9827C>G c.851-2679G>C (n.851-2679G>C) n.2857C>G n.6880C>G c.2708C>G (p.Ala903Gly) c.26390C>G (p.Ala8797Gly) c.26378C>G (p.Ala8793Gly) c.26369C>G (p.Ala8790Gly) c.26348C>G (p.Ala8783Gly) c.26339C>G (p.Ala8780Gly) c.26333C>G (p.Ala8778Gly) c.26321C>G (p.Ala8774Gly) c.26318C>G (p.Ala8773Gly) c.26279C>G (p.Ala8760Gly) c.26264C>G (p.Ala8755Gly) c.26249C>G (p.Ala8750Gly) c.26237C>G (p.Ala8746Gly) c.26234C>G (p.Ala8745Gly) c.26231C>G (p.Ala8744Gly) c.*54C>G (n.*54C>G) c.26387C>G (p.Ala8796Gly) c.26375C>G (p.Ala8792Gly) c.26225C>G (p.Ala8742Gly) c.24665C>G (p.Ala8222Gly) c.24158C>G (p.Ala8053Gly) c.19625C>G (p.Ala6542Gly) c.26363C>G (p.Ala8788Gly) c.26312C>G (p.Ala8771Gly) c.26276C>G (p.Ala8759Gly) c.26123C>G (p.Ala8708Gly) | |
6 | g.152122587G>T | CA366088998 | ESR1,SYNE1 | c.2777C>A (p.Ala926Asp) c.26243C>A (p.Ala8748Asp) c.26099C>A (p.Ala8700Asp) c.1586C>A c.1961C>A c.1828C>A c.2093C>A (n.2093C>A) c.25028C>A (p.Ala8343Asp) n.2991C>A c.5019C>A (n.5019C>A) n.9935C>A c.4122C>A (n.4122C>A) n.9827C>A c.851-2679G>T (n.851-2679G>T) n.2857C>A n.6880C>A c.2708C>A (p.Ala903Asp) c.26390C>A (p.Ala8797Asp) c.26378C>A (p.Ala8793Asp) c.26369C>A (p.Ala8790Asp) c.26348C>A (p.Ala8783Asp) c.26339C>A (p.Ala8780Asp) c.26333C>A (p.Ala8778Asp) c.26321C>A (p.Ala8774Asp) c.26318C>A (p.Ala8773Asp) c.26279C>A (p.Ala8760Asp) c.26264C>A (p.Ala8755Asp) c.26249C>A (p.Ala8750Asp) c.26237C>A (p.Ala8746Asp) c.26234C>A (p.Ala8745Asp) c.26231C>A (p.Ala8744Asp) c.*54C>A (n.*54C>A) c.26387C>A (p.Ala8796Asp) c.26375C>A (p.Ala8792Asp) c.26225C>A (p.Ala8742Asp) c.24665C>A (p.Ala8222Asp) c.24158C>A (p.Ala8053Asp) c.19625C>A (p.Ala6542Asp) c.26363C>A (p.Ala8788Asp) c.26312C>A (p.Ala8771Asp) c.26276C>A (p.Ala8759Asp) c.26123C>A (p.Ala8708Asp) | |
6 | g.152122588C>A | CA366089000 | ESR1,SYNE1 | c.2776G>T (p.Ala926Ser) c.26242G>T (p.Ala8748Ser) c.26098G>T (p.Ala8700Ser) c.1585G>T c.1960G>T c.1827G>T c.2092G>T (n.2092G>T) c.25027G>T (p.Ala8343Ser) n.2990G>T c.5018G>T (n.5018G>T) n.9934G>T c.4121G>T (n.4121G>T) n.9826G>T c.851-2678C>A (n.851-2678C>A) n.2856G>T n.6879G>T c.2707G>T (p.Ala903Ser) c.26389G>T (p.Ala8797Ser) c.26377G>T (p.Ala8793Ser) c.26368G>T (p.Ala8790Ser) c.26347G>T (p.Ala8783Ser) c.26338G>T (p.Ala8780Ser) c.26332G>T (p.Ala8778Ser) c.26320G>T (p.Ala8774Ser) c.26317G>T (p.Ala8773Ser) c.26278G>T (p.Ala8760Ser) c.26263G>T (p.Ala8755Ser) c.26248G>T (p.Ala8750Ser) c.26236G>T (p.Ala8746Ser) c.26233G>T (p.Ala8745Ser) c.26230G>T (p.Ala8744Ser) c.*53G>T (n.*53G>T) c.26386G>T (p.Ala8796Ser) c.26374G>T (p.Ala8792Ser) c.26224G>T (p.Ala8742Ser) c.24664G>T (p.Ala8222Ser) c.24157G>T (p.Ala8053Ser) c.19624G>T (p.Ala6542Ser) c.26362G>T (p.Ala8788Ser) c.26311G>T (p.Ala8771Ser) c.26275G>T (p.Ala8759Ser) c.26122G>T (p.Ala8708Ser) | |
6 | g.152122588C= | CA1673189043 | ESR1,SYNE1 | c.2776G= (p.Ala926=) c.26242G= (p.Ala8748=) c.26098G= (p.Ala8700=) c.1585G= c.1960G= c.1827G= c.2092G= (n.2092G=) c.25027G= (p.Ala8343=) n.2990G= c.5018G= (n.5018G=) n.9934G= c.4121G= (n.4121G=) n.9826G= c.851-2678C= (n.851-2678C=) n.2856G= n.6879G= c.2707G= (p.Ala903=) c.26389G= (p.Ala8797=) c.26377G= (p.Ala8793=) c.26368G= (p.Ala8790=) c.26347G= (p.Ala8783=) c.26338G= (p.Ala8780=) c.26332G= (p.Ala8778=) c.26320G= (p.Ala8774=) c.26317G= (p.Ala8773=) c.26278G= (p.Ala8760=) c.26263G= (p.Ala8755=) c.26248G= (p.Ala8750=) c.26236G= (p.Ala8746=) c.26233G= (p.Ala8745=) c.26230G= (p.Ala8744=) c.*53G= (n.*53G=) c.26386G= (p.Ala8796=) c.26374G= (p.Ala8792=) c.26224G= (p.Ala8742=) c.24664G= (p.Ala8222=) c.24157G= (p.Ala8053=) c.19624G= (p.Ala6542=) c.26362G= (p.Ala8788=) c.26311G= (p.Ala8771=) c.26275G= (p.Ala8759=) c.26122G= (p.Ala8708=) | |
6 | g.152122588C>G | CA366089002 | ESR1,SYNE1 | c.2776G>C (p.Ala926Pro) c.26242G>C (p.Ala8748Pro) c.26098G>C (p.Ala8700Pro) c.1585G>C c.1960G>C c.1827G>C c.2092G>C (n.2092G>C) c.25027G>C (p.Ala8343Pro) n.2990G>C c.5018G>C (n.5018G>C) n.9934G>C c.4121G>C (n.4121G>C) n.9826G>C c.851-2678C>G (n.851-2678C>G) n.2856G>C n.6879G>C c.2707G>C (p.Ala903Pro) c.26389G>C (p.Ala8797Pro) c.26377G>C (p.Ala8793Pro) c.26368G>C (p.Ala8790Pro) c.26347G>C (p.Ala8783Pro) c.26338G>C (p.Ala8780Pro) c.26332G>C (p.Ala8778Pro) c.26320G>C (p.Ala8774Pro) c.26317G>C (p.Ala8773Pro) c.26278G>C (p.Ala8760Pro) c.26263G>C (p.Ala8755Pro) c.26248G>C (p.Ala8750Pro) c.26236G>C (p.Ala8746Pro) c.26233G>C (p.Ala8745Pro) c.26230G>C (p.Ala8744Pro) c.*53G>C (n.*53G>C) c.26386G>C (p.Ala8796Pro) c.26374G>C (p.Ala8792Pro) c.26224G>C (p.Ala8742Pro) c.24664G>C (p.Ala8222Pro) c.24157G>C (p.Ala8053Pro) c.19624G>C (p.Ala6542Pro) c.26362G>C (p.Ala8788Pro) c.26311G>C (p.Ala8771Pro) c.26275G>C (p.Ala8759Pro) c.26122G>C (p.Ala8708Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122588C>T | CA366089004 | ESR1,SYNE1 | c.2776G>A (p.Ala926Thr) c.26242G>A (p.Ala8748Thr) c.26098G>A (p.Ala8700Thr) c.1585G>A c.1960G>A c.1827G>A c.2092G>A (n.2092G>A) c.25027G>A (p.Ala8343Thr) n.2990G>A c.5018G>A (n.5018G>A) n.9934G>A c.4121G>A (n.4121G>A) n.9826G>A c.851-2678C>T (n.851-2678C>T) n.2856G>A n.6879G>A c.2707G>A (p.Ala903Thr) c.26389G>A (p.Ala8797Thr) c.26377G>A (p.Ala8793Thr) c.26368G>A (p.Ala8790Thr) c.26347G>A (p.Ala8783Thr) c.26338G>A (p.Ala8780Thr) c.26332G>A (p.Ala8778Thr) c.26320G>A (p.Ala8774Thr) c.26317G>A (p.Ala8773Thr) c.26278G>A (p.Ala8760Thr) c.26263G>A (p.Ala8755Thr) c.26248G>A (p.Ala8750Thr) c.26236G>A (p.Ala8746Thr) c.26233G>A (p.Ala8745Thr) c.26230G>A (p.Ala8744Thr) c.*53G>A (n.*53G>A) c.26386G>A (p.Ala8796Thr) c.26374G>A (p.Ala8792Thr) c.26224G>A (p.Ala8742Thr) c.24664G>A (p.Ala8222Thr) c.24157G>A (p.Ala8053Thr) c.19624G>A (p.Ala6542Thr) c.26362G>A (p.Ala8788Thr) c.26311G>A (p.Ala8771Thr) c.26275G>A (p.Ala8759Thr) c.26122G>A (p.Ala8708Thr) | dbSNP gnomAD v4 |
6 | g.152122589T>A | CA452969603 | ESR1,SYNE1 | c.2775A>T (p.Ala925=) c.26241A>T (p.Ala8747=) c.26097A>T (p.Ala8699=) c.1584A>T c.1959A>T c.1826A>T c.2091A>T (n.2091A>T) c.25026A>T (p.Ala8342=) n.2989A>T c.5017A>T (n.5017A>T) n.9933A>T c.4120A>T (n.4120A>T) n.9825A>T c.851-2677T>A (n.851-2677T>A) n.2855A>T n.6878A>T c.2706A>T (p.Ala902=) c.26388A>T (p.Ala8796=) c.26376A>T (p.Ala8792=) c.26367A>T (p.Ala8789=) c.26346A>T (p.Ala8782=) c.26337A>T (p.Ala8779=) c.26331A>T (p.Ala8777=) c.26319A>T (p.Ala8773=) c.26316A>T (p.Ala8772=) c.26277A>T (p.Ala8759=) c.26262A>T (p.Ala8754=) c.26247A>T (p.Ala8749=) c.26235A>T (p.Ala8745=) c.26232A>T (p.Ala8744=) c.26229A>T (p.Ala8743=) c.*52A>T (n.*52A>T) c.26385A>T (p.Ala8795=) c.26373A>T (p.Ala8791=) c.26223A>T (p.Ala8741=) c.24663A>T (p.Ala8221=) c.24156A>T (p.Ala8052=) c.19623A>T (p.Ala6541=) c.26361A>T (p.Ala8787=) c.26310A>T (p.Ala8770=) c.26274A>T (p.Ala8758=) c.26121A>T (p.Ala8707=) | |
6 | g.152122589T>C | CA452969604 | ESR1,SYNE1 | c.2775A>G (p.Ala925=) c.26241A>G (p.Ala8747=) c.26097A>G (p.Ala8699=) c.1584A>G c.1959A>G c.1826A>G c.2091A>G (n.2091A>G) c.25026A>G (p.Ala8342=) n.2989A>G c.5017A>G (n.5017A>G) n.9933A>G c.4120A>G (n.4120A>G) n.9825A>G c.851-2677T>C (n.851-2677T>C) n.2855A>G n.6878A>G c.2706A>G (p.Ala902=) c.26388A>G (p.Ala8796=) c.26376A>G (p.Ala8792=) c.26367A>G (p.Ala8789=) c.26346A>G (p.Ala8782=) c.26337A>G (p.Ala8779=) c.26331A>G (p.Ala8777=) c.26319A>G (p.Ala8773=) c.26316A>G (p.Ala8772=) c.26277A>G (p.Ala8759=) c.26262A>G (p.Ala8754=) c.26247A>G (p.Ala8749=) c.26235A>G (p.Ala8745=) c.26232A>G (p.Ala8744=) c.26229A>G (p.Ala8743=) c.*52A>G (n.*52A>G) c.26385A>G (p.Ala8795=) c.26373A>G (p.Ala8791=) c.26223A>G (p.Ala8741=) c.24663A>G (p.Ala8221=) c.24156A>G (p.Ala8052=) c.19623A>G (p.Ala6541=) c.26361A>G (p.Ala8787=) c.26310A>G (p.Ala8770=) c.26274A>G (p.Ala8758=) c.26121A>G (p.Ala8707=) | ClinVar dbSNP |
6 | g.152122589T>G | CA452969605 | ESR1,SYNE1 | c.2775A>C (p.Ala925=) c.26241A>C (p.Ala8747=) c.26097A>C (p.Ala8699=) c.1584A>C c.1959A>C c.1826A>C c.2091A>C (n.2091A>C) c.25026A>C (p.Ala8342=) n.2989A>C c.5017A>C (n.5017A>C) n.9933A>C c.4120A>C (n.4120A>C) n.9825A>C c.851-2677T>G (n.851-2677T>G) n.2855A>C n.6878A>C c.2706A>C (p.Ala902=) c.26388A>C (p.Ala8796=) c.26376A>C (p.Ala8792=) c.26367A>C (p.Ala8789=) c.26346A>C (p.Ala8782=) c.26337A>C (p.Ala8779=) c.26331A>C (p.Ala8777=) c.26319A>C (p.Ala8773=) c.26316A>C (p.Ala8772=) c.26277A>C (p.Ala8759=) c.26262A>C (p.Ala8754=) c.26247A>C (p.Ala8749=) c.26235A>C (p.Ala8745=) c.26232A>C (p.Ala8744=) c.26229A>C (p.Ala8743=) c.*52A>C (n.*52A>C) c.26385A>C (p.Ala8795=) c.26373A>C (p.Ala8791=) c.26223A>C (p.Ala8741=) c.24663A>C (p.Ala8221=) c.24156A>C (p.Ala8052=) c.19623A>C (p.Ala6541=) c.26361A>C (p.Ala8787=) c.26310A>C (p.Ala8770=) c.26274A>C (p.Ala8758=) c.26121A>C (p.Ala8707=) | |
6 | g.152122590G>A | CA366089010 | ESR1,SYNE1 | c.2774C>T (p.Ala925Val) c.26240C>T (p.Ala8747Val) c.26096C>T (p.Ala8699Val) c.1583C>T c.1958C>T c.1825C>T c.2090C>T (n.2090C>T) c.25025C>T (p.Ala8342Val) n.2988C>T c.5016C>T (n.5016C>T) n.9932C>T c.4119C>T (n.4119C>T) n.9824C>T c.851-2676G>A (n.851-2676G>A) n.2854C>T n.6877C>T c.2705C>T (p.Ala902Val) c.26387C>T (p.Ala8796Val) c.26375C>T (p.Ala8792Val) c.26366C>T (p.Ala8789Val) c.26345C>T (p.Ala8782Val) c.26336C>T (p.Ala8779Val) c.26330C>T (p.Ala8777Val) c.26318C>T (p.Ala8773Val) c.26315C>T (p.Ala8772Val) c.26276C>T (p.Ala8759Val) c.26261C>T (p.Ala8754Val) c.26246C>T (p.Ala8749Val) c.26234C>T (p.Ala8745Val) c.26231C>T (p.Ala8744Val) c.26228C>T (p.Ala8743Val) c.*51C>T (n.*51C>T) c.26384C>T (p.Ala8795Val) c.26372C>T (p.Ala8791Val) c.26222C>T (p.Ala8741Val) c.24662C>T (p.Ala8221Val) c.24155C>T (p.Ala8052Val) c.19622C>T (p.Ala6541Val) c.26360C>T (p.Ala8787Val) c.26309C>T (p.Ala8770Val) c.26273C>T (p.Ala8758Val) c.26120C>T (p.Ala8707Val) | |
6 | g.152122590G>C | CA366089007 | ESR1,SYNE1 | c.2774C>G (p.Ala925Gly) c.26240C>G (p.Ala8747Gly) c.26096C>G (p.Ala8699Gly) c.1583C>G c.1958C>G c.1825C>G c.2090C>G (n.2090C>G) c.25025C>G (p.Ala8342Gly) n.2988C>G c.5016C>G (n.5016C>G) n.9932C>G c.4119C>G (n.4119C>G) n.9824C>G c.851-2676G>C (n.851-2676G>C) n.2854C>G n.6877C>G c.2705C>G (p.Ala902Gly) c.26387C>G (p.Ala8796Gly) c.26375C>G (p.Ala8792Gly) c.26366C>G (p.Ala8789Gly) c.26345C>G (p.Ala8782Gly) c.26336C>G (p.Ala8779Gly) c.26330C>G (p.Ala8777Gly) c.26318C>G (p.Ala8773Gly) c.26315C>G (p.Ala8772Gly) c.26276C>G (p.Ala8759Gly) c.26261C>G (p.Ala8754Gly) c.26246C>G (p.Ala8749Gly) c.26234C>G (p.Ala8745Gly) c.26231C>G (p.Ala8744Gly) c.26228C>G (p.Ala8743Gly) c.*51C>G (n.*51C>G) c.26384C>G (p.Ala8795Gly) c.26372C>G (p.Ala8791Gly) c.26222C>G (p.Ala8741Gly) c.24662C>G (p.Ala8221Gly) c.24155C>G (p.Ala8052Gly) c.19622C>G (p.Ala6541Gly) c.26360C>G (p.Ala8787Gly) c.26309C>G (p.Ala8770Gly) c.26273C>G (p.Ala8758Gly) c.26120C>G (p.Ala8707Gly) | |
6 | g.152122590G>T | CA366089009 | ESR1,SYNE1 | c.2774C>A (p.Ala925Glu) c.26240C>A (p.Ala8747Glu) c.26096C>A (p.Ala8699Glu) c.1583C>A c.1958C>A c.1825C>A c.2090C>A (n.2090C>A) c.25025C>A (p.Ala8342Glu) n.2988C>A c.5016C>A (n.5016C>A) n.9932C>A c.4119C>A (n.4119C>A) n.9824C>A c.851-2676G>T (n.851-2676G>T) n.2854C>A n.6877C>A c.2705C>A (p.Ala902Glu) c.26387C>A (p.Ala8796Glu) c.26375C>A (p.Ala8792Glu) c.26366C>A (p.Ala8789Glu) c.26345C>A (p.Ala8782Glu) c.26336C>A (p.Ala8779Glu) c.26330C>A (p.Ala8777Glu) c.26318C>A (p.Ala8773Glu) c.26315C>A (p.Ala8772Glu) c.26276C>A (p.Ala8759Glu) c.26261C>A (p.Ala8754Glu) c.26246C>A (p.Ala8749Glu) c.26234C>A (p.Ala8745Glu) c.26231C>A (p.Ala8744Glu) c.26228C>A (p.Ala8743Glu) c.*51C>A (n.*51C>A) c.26384C>A (p.Ala8795Glu) c.26372C>A (p.Ala8791Glu) c.26222C>A (p.Ala8741Glu) c.24662C>A (p.Ala8221Glu) c.24155C>A (p.Ala8052Glu) c.19622C>A (p.Ala6541Glu) c.26360C>A (p.Ala8787Glu) c.26309C>A (p.Ala8770Glu) c.26273C>A (p.Ala8758Glu) c.26120C>A (p.Ala8707Glu) |