UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.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) |