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.152122620C>A | CA4052605 | ESR1,SYNE1 | c.2744G>T (p.Gly915Val) c.26210G>T (p.Gly8737Val) c.26066G>T (p.Gly8689Val) c.1553G>T c.1928G>T c.1795G>T c.2060G>T (n.2060G>T) c.24995G>T (p.Gly8332Val) n.2958G>T c.4986G>T (n.4986G>T) n.9902G>T c.4089G>T (n.4089G>T) n.9794G>T c.851-2646C>A (n.851-2646C>A) n.2824G>T n.6847G>T n.2988G>T c.2675G>T (p.Gly892Val) c.26357G>T (p.Gly8786Val) c.26345G>T (p.Gly8782Val) c.26336G>T (p.Gly8779Val) c.26315G>T (p.Gly8772Val) c.26306G>T (p.Gly8769Val) c.26300G>T (p.Gly8767Val) c.26288G>T (p.Gly8763Val) c.26285G>T (p.Gly8762Val) c.26246G>T (p.Gly8749Val) c.26231G>T (p.Gly8744Val) c.26216G>T (p.Gly8739Val) c.26204G>T (p.Gly8735Val) c.26201G>T (p.Gly8734Val) c.26198G>T (p.Gly8733Val) c.*21G>T (n.*21G>T) c.26354G>T (p.Gly8785Val) c.26342G>T (p.Gly8781Val) c.26192G>T (p.Gly8731Val) c.24632G>T (p.Gly8211Val) c.24125G>T (p.Gly8042Val) c.19592G>T (p.Gly6531Val) c.26330G>T (p.Gly8777Val) c.26279G>T (p.Gly8760Val) c.26243G>T (p.Gly8748Val) c.26090G>T (p.Gly8697Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152122620C= | CA1673189106 | ESR1,SYNE1 | c.2744G= (p.Gly915=) c.26210G= (p.Gly8737=) c.26066G= (p.Gly8689=) c.1553G= c.1928G= c.1795G= c.2060G= (n.2060G=) c.24995G= (p.Gly8332=) n.2958G= c.4986G= (n.4986G=) n.9902G= c.4089G= (n.4089G=) n.9794G= c.851-2646C= (n.851-2646C=) n.2824G= n.6847G= n.2988G= c.2675G= (p.Gly892=) c.26357G= (p.Gly8786=) c.26345G= (p.Gly8782=) c.26336G= (p.Gly8779=) c.26315G= (p.Gly8772=) c.26306G= (p.Gly8769=) c.26300G= (p.Gly8767=) c.26288G= (p.Gly8763=) c.26285G= (p.Gly8762=) c.26246G= (p.Gly8749=) c.26231G= (p.Gly8744=) c.26216G= (p.Gly8739=) c.26204G= (p.Gly8735=) c.26201G= (p.Gly8734=) c.26198G= (p.Gly8733=) c.*21G= (n.*21G=) c.26354G= (p.Gly8785=) c.26342G= (p.Gly8781=) c.26192G= (p.Gly8731=) c.24632G= (p.Gly8211=) c.24125G= (p.Gly8042=) c.19592G= (p.Gly6531=) c.26330G= (p.Gly8777=) c.26279G= (p.Gly8760=) c.26243G= (p.Gly8748=) c.26090G= (p.Gly8697=) | |
| 6 | g.152122620C>G | CA366089128 | ESR1,SYNE1 | c.2744G>C (p.Gly915Ala) c.26210G>C (p.Gly8737Ala) c.26066G>C (p.Gly8689Ala) c.1553G>C c.1928G>C c.1795G>C c.2060G>C (n.2060G>C) c.24995G>C (p.Gly8332Ala) n.2958G>C c.4986G>C (n.4986G>C) n.9902G>C c.4089G>C (n.4089G>C) n.9794G>C c.851-2646C>G (n.851-2646C>G) n.2824G>C n.6847G>C n.2988G>C c.2675G>C (p.Gly892Ala) c.26357G>C (p.Gly8786Ala) c.26345G>C (p.Gly8782Ala) c.26336G>C (p.Gly8779Ala) c.26315G>C (p.Gly8772Ala) c.26306G>C (p.Gly8769Ala) c.26300G>C (p.Gly8767Ala) c.26288G>C (p.Gly8763Ala) c.26285G>C (p.Gly8762Ala) c.26246G>C (p.Gly8749Ala) c.26231G>C (p.Gly8744Ala) c.26216G>C (p.Gly8739Ala) c.26204G>C (p.Gly8735Ala) c.26201G>C (p.Gly8734Ala) c.26198G>C (p.Gly8733Ala) c.*21G>C (n.*21G>C) c.26354G>C (p.Gly8785Ala) c.26342G>C (p.Gly8781Ala) c.26192G>C (p.Gly8731Ala) c.24632G>C (p.Gly8211Ala) c.24125G>C (p.Gly8042Ala) c.19592G>C (p.Gly6531Ala) c.26330G>C (p.Gly8777Ala) c.26279G>C (p.Gly8760Ala) c.26243G>C (p.Gly8748Ala) c.26090G>C (p.Gly8697Ala) | |
| 6 | g.152122620C>T | CA366089126 | ESR1,SYNE1 | c.2744G>A (p.Gly915Asp) c.26210G>A (p.Gly8737Asp) c.26066G>A (p.Gly8689Asp) c.1553G>A c.1928G>A c.1795G>A c.2060G>A (n.2060G>A) c.24995G>A (p.Gly8332Asp) n.2958G>A c.4986G>A (n.4986G>A) n.9902G>A c.4089G>A (n.4089G>A) n.9794G>A c.851-2646C>T (n.851-2646C>T) n.2824G>A n.6847G>A n.2988G>A c.2675G>A (p.Gly892Asp) c.26357G>A (p.Gly8786Asp) c.26345G>A (p.Gly8782Asp) c.26336G>A (p.Gly8779Asp) c.26315G>A (p.Gly8772Asp) c.26306G>A (p.Gly8769Asp) c.26300G>A (p.Gly8767Asp) c.26288G>A (p.Gly8763Asp) c.26285G>A (p.Gly8762Asp) c.26246G>A (p.Gly8749Asp) c.26231G>A (p.Gly8744Asp) c.26216G>A (p.Gly8739Asp) c.26204G>A (p.Gly8735Asp) c.26201G>A (p.Gly8734Asp) c.26198G>A (p.Gly8733Asp) c.*21G>A (n.*21G>A) c.26354G>A (p.Gly8785Asp) c.26342G>A (p.Gly8781Asp) c.26192G>A (p.Gly8731Asp) c.24632G>A (p.Gly8211Asp) c.24125G>A (p.Gly8042Asp) c.19592G>A (p.Gly6531Asp) c.26330G>A (p.Gly8777Asp) c.26279G>A (p.Gly8760Asp) c.26243G>A (p.Gly8748Asp) c.26090G>A (p.Gly8697Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122621C>A | CA366089130 | ESR1,SYNE1 | c.2743G>T (p.Gly915Cys) c.26209G>T (p.Gly8737Cys) c.26065G>T (p.Gly8689Cys) c.1552G>T c.1927G>T c.1794G>T c.2059G>T (n.2059G>T) c.24994G>T (p.Gly8332Cys) n.2957G>T c.4985G>T (n.4985G>T) n.9901G>T c.4088G>T (n.4088G>T) n.9793G>T c.851-2645C>A (n.851-2645C>A) n.2823G>T n.6846G>T n.2987G>T c.2674G>T (p.Gly892Cys) c.26356G>T (p.Gly8786Cys) c.26344G>T (p.Gly8782Cys) c.26335G>T (p.Gly8779Cys) c.26314G>T (p.Gly8772Cys) c.26305G>T (p.Gly8769Cys) c.26299G>T (p.Gly8767Cys) c.26287G>T (p.Gly8763Cys) c.26284G>T (p.Gly8762Cys) c.26245G>T (p.Gly8749Cys) c.26230G>T (p.Gly8744Cys) c.26215G>T (p.Gly8739Cys) c.26203G>T (p.Gly8735Cys) c.26200G>T (p.Gly8734Cys) c.26197G>T (p.Gly8733Cys) c.*20G>T (n.*20G>T) c.26353G>T (p.Gly8785Cys) c.26341G>T (p.Gly8781Cys) c.26191G>T (p.Gly8731Cys) c.24631G>T (p.Gly8211Cys) c.24124G>T (p.Gly8042Cys) c.19591G>T (p.Gly6531Cys) c.26329G>T (p.Gly8777Cys) c.26278G>T (p.Gly8760Cys) c.26242G>T (p.Gly8748Cys) c.26089G>T (p.Gly8697Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152122621C= | CA1673189119 | ESR1,SYNE1 | c.2743G= (p.Gly915=) c.26209G= (p.Gly8737=) c.26065G= (p.Gly8689=) c.1552G= c.1927G= c.1794G= c.2059G= (n.2059G=) c.24994G= (p.Gly8332=) n.2957G= c.4985G= (n.4985G=) n.9901G= c.4088G= (n.4088G=) n.9793G= c.851-2645C= (n.851-2645C=) n.2823G= n.6846G= n.2987G= c.2674G= (p.Gly892=) c.26356G= (p.Gly8786=) c.26344G= (p.Gly8782=) c.26335G= (p.Gly8779=) c.26314G= (p.Gly8772=) c.26305G= (p.Gly8769=) c.26299G= (p.Gly8767=) c.26287G= (p.Gly8763=) c.26284G= (p.Gly8762=) c.26245G= (p.Gly8749=) c.26230G= (p.Gly8744=) c.26215G= (p.Gly8739=) c.26203G= (p.Gly8735=) c.26200G= (p.Gly8734=) c.26197G= (p.Gly8733=) c.*20G= (n.*20G=) c.26353G= (p.Gly8785=) c.26341G= (p.Gly8781=) c.26191G= (p.Gly8731=) c.24631G= (p.Gly8211=) c.24124G= (p.Gly8042=) c.19591G= (p.Gly6531=) c.26329G= (p.Gly8777=) c.26278G= (p.Gly8760=) c.26242G= (p.Gly8748=) c.26089G= (p.Gly8697=) | |
| 6 | g.152122621C>G | CA366089132 | ESR1,SYNE1 | c.2743G>C (p.Gly915Arg) c.26209G>C (p.Gly8737Arg) c.26065G>C (p.Gly8689Arg) c.1552G>C c.1927G>C c.1794G>C c.2059G>C (n.2059G>C) c.24994G>C (p.Gly8332Arg) n.2957G>C c.4985G>C (n.4985G>C) n.9901G>C c.4088G>C (n.4088G>C) n.9793G>C c.851-2645C>G (n.851-2645C>G) n.2823G>C n.6846G>C n.2987G>C c.2674G>C (p.Gly892Arg) c.26356G>C (p.Gly8786Arg) c.26344G>C (p.Gly8782Arg) c.26335G>C (p.Gly8779Arg) c.26314G>C (p.Gly8772Arg) c.26305G>C (p.Gly8769Arg) c.26299G>C (p.Gly8767Arg) c.26287G>C (p.Gly8763Arg) c.26284G>C (p.Gly8762Arg) c.26245G>C (p.Gly8749Arg) c.26230G>C (p.Gly8744Arg) c.26215G>C (p.Gly8739Arg) c.26203G>C (p.Gly8735Arg) c.26200G>C (p.Gly8734Arg) c.26197G>C (p.Gly8733Arg) c.*20G>C (n.*20G>C) c.26353G>C (p.Gly8785Arg) c.26341G>C (p.Gly8781Arg) c.26191G>C (p.Gly8731Arg) c.24631G>C (p.Gly8211Arg) c.24124G>C (p.Gly8042Arg) c.19591G>C (p.Gly6531Arg) c.26329G>C (p.Gly8777Arg) c.26278G>C (p.Gly8760Arg) c.26242G>C (p.Gly8748Arg) c.26089G>C (p.Gly8697Arg) | |
| 6 | g.152122621C>T | CA155449 | ESR1,SYNE1 | c.2743G>A (p.Gly915Ser) c.26209G>A (p.Gly8737Ser) c.26065G>A (p.Gly8689Ser) c.1552G>A c.1927G>A c.1794G>A c.2059G>A (n.2059G>A) c.24994G>A (p.Gly8332Ser) n.2957G>A c.4985G>A (n.4985G>A) n.9901G>A c.4088G>A (n.4088G>A) n.9793G>A c.851-2645C>T (n.851-2645C>T) n.2823G>A n.6846G>A n.2987G>A c.2674G>A (p.Gly892Ser) c.26356G>A (p.Gly8786Ser) c.26344G>A (p.Gly8782Ser) c.26335G>A (p.Gly8779Ser) c.26314G>A (p.Gly8772Ser) c.26305G>A (p.Gly8769Ser) c.26299G>A (p.Gly8767Ser) c.26287G>A (p.Gly8763Ser) c.26284G>A (p.Gly8762Ser) c.26245G>A (p.Gly8749Ser) c.26230G>A (p.Gly8744Ser) c.26215G>A (p.Gly8739Ser) c.26203G>A (p.Gly8735Ser) c.26200G>A (p.Gly8734Ser) c.26197G>A (p.Gly8733Ser) c.*20G>A (n.*20G>A) c.26353G>A (p.Gly8785Ser) c.26341G>A (p.Gly8781Ser) c.26191G>A (p.Gly8731Ser) c.24631G>A (p.Gly8211Ser) c.24124G>A (p.Gly8042Ser) c.19591G>A (p.Gly6531Ser) c.26329G>A (p.Gly8777Ser) c.26278G>A (p.Gly8760Ser) c.26242G>A (p.Gly8748Ser) c.26089G>A (p.Gly8697Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122622G>A | CA4052606 | ESR1,SYNE1 | c.2742C>T (p.Ser914=) c.26208C>T (p.Ser8736=) c.26064C>T (p.Ser8688=) c.1551C>T c.1926C>T c.1793C>T c.2058C>T (n.2058C>T) c.24993C>T (p.Ser8331=) n.2956C>T c.4984C>T (n.4984C>T) n.9900C>T c.4087C>T (n.4087C>T) n.9792C>T c.851-2644G>A (n.851-2644G>A) n.2822C>T n.6845C>T n.2986C>T c.2673C>T (p.Ser891=) c.26355C>T (p.Ser8785=) c.26343C>T (p.Ser8781=) c.26334C>T (p.Ser8778=) c.26313C>T (p.Ser8771=) c.26304C>T (p.Ser8768=) c.26298C>T (p.Ser8766=) c.26286C>T (p.Ser8762=) c.26283C>T (p.Ser8761=) c.26244C>T (p.Ser8748=) c.26229C>T (p.Ser8743=) c.26214C>T (p.Ser8738=) c.26202C>T (p.Ser8734=) c.26199C>T (p.Ser8733=) c.26196C>T (p.Ser8732=) c.*19C>T (n.*19C>T) c.26352C>T (p.Ser8784=) c.26340C>T (p.Ser8780=) c.26190C>T (p.Ser8730=) c.24630C>T (p.Ser8210=) c.24123C>T (p.Ser8041=) c.19590C>T (p.Ser6530=) c.26328C>T (p.Ser8776=) c.26277C>T (p.Ser8759=) c.26241C>T (p.Ser8747=) c.26088C>T (p.Ser8696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122622G>C | CA452969661 | ESR1,SYNE1 | c.2742C>G (p.Ser914=) c.26208C>G (p.Ser8736=) c.26064C>G (p.Ser8688=) c.1551C>G c.1926C>G c.1793C>G c.2058C>G (n.2058C>G) c.24993C>G (p.Ser8331=) n.2956C>G c.4984C>G (n.4984C>G) n.9900C>G c.4087C>G (n.4087C>G) n.9792C>G c.851-2644G>C (n.851-2644G>C) n.2822C>G n.6845C>G n.2986C>G c.2673C>G (p.Ser891=) c.26355C>G (p.Ser8785=) c.26343C>G (p.Ser8781=) c.26334C>G (p.Ser8778=) c.26313C>G (p.Ser8771=) c.26304C>G (p.Ser8768=) c.26298C>G (p.Ser8766=) c.26286C>G (p.Ser8762=) c.26283C>G (p.Ser8761=) c.26244C>G (p.Ser8748=) c.26229C>G (p.Ser8743=) c.26214C>G (p.Ser8738=) c.26202C>G (p.Ser8734=) c.26199C>G (p.Ser8733=) c.26196C>G (p.Ser8732=) c.*19C>G (n.*19C>G) c.26352C>G (p.Ser8784=) c.26340C>G (p.Ser8780=) c.26190C>G (p.Ser8730=) c.24630C>G (p.Ser8210=) c.24123C>G (p.Ser8041=) c.19590C>G (p.Ser6530=) c.26328C>G (p.Ser8776=) c.26277C>G (p.Ser8759=) c.26241C>G (p.Ser8747=) c.26088C>G (p.Ser8696=) | |
| 6 | g.152122622G= | CA1673189128 | ESR1,SYNE1 | c.2742C= (p.Ser914=) c.26208C= (p.Ser8736=) c.26064C= (p.Ser8688=) c.1551C= c.1926C= c.1793C= c.2058C= (n.2058C=) c.24993C= (p.Ser8331=) n.2956C= c.4984C= (n.4984C=) n.9900C= c.4087C= (n.4087C=) n.9792C= c.851-2644G= (n.851-2644G=) n.2822C= n.6845C= n.2986C= c.2673C= (p.Ser891=) c.26355C= (p.Ser8785=) c.26343C= (p.Ser8781=) c.26334C= (p.Ser8778=) c.26313C= (p.Ser8771=) c.26304C= (p.Ser8768=) c.26298C= (p.Ser8766=) c.26286C= (p.Ser8762=) c.26283C= (p.Ser8761=) c.26244C= (p.Ser8748=) c.26229C= (p.Ser8743=) c.26214C= (p.Ser8738=) c.26202C= (p.Ser8734=) c.26199C= (p.Ser8733=) c.26196C= (p.Ser8732=) c.*19C= (n.*19C=) c.26352C= (p.Ser8784=) c.26340C= (p.Ser8780=) c.26190C= (p.Ser8730=) c.24630C= (p.Ser8210=) c.24123C= (p.Ser8041=) c.19590C= (p.Ser6530=) c.26328C= (p.Ser8776=) c.26277C= (p.Ser8759=) c.26241C= (p.Ser8747=) c.26088C= (p.Ser8696=) | |
| 6 | g.152122622G>T | CA452969662 | ESR1,SYNE1 | c.2742C>A (p.Ser914=) c.26208C>A (p.Ser8736=) c.26064C>A (p.Ser8688=) c.1551C>A c.1926C>A c.1793C>A c.2058C>A (n.2058C>A) c.24993C>A (p.Ser8331=) n.2956C>A c.4984C>A (n.4984C>A) n.9900C>A c.4087C>A (n.4087C>A) n.9792C>A c.851-2644G>T (n.851-2644G>T) n.2822C>A n.6845C>A n.2986C>A c.2673C>A (p.Ser891=) c.26355C>A (p.Ser8785=) c.26343C>A (p.Ser8781=) c.26334C>A (p.Ser8778=) c.26313C>A (p.Ser8771=) c.26304C>A (p.Ser8768=) c.26298C>A (p.Ser8766=) c.26286C>A (p.Ser8762=) c.26283C>A (p.Ser8761=) c.26244C>A (p.Ser8748=) c.26229C>A (p.Ser8743=) c.26214C>A (p.Ser8738=) c.26202C>A (p.Ser8734=) c.26199C>A (p.Ser8733=) c.26196C>A (p.Ser8732=) c.*19C>A (n.*19C>A) c.26352C>A (p.Ser8784=) c.26340C>A (p.Ser8780=) c.26190C>A (p.Ser8730=) c.24630C>A (p.Ser8210=) c.24123C>A (p.Ser8041=) c.19590C>A (p.Ser6530=) c.26328C>A (p.Ser8776=) c.26277C>A (p.Ser8759=) c.26241C>A (p.Ser8747=) c.26088C>A (p.Ser8696=) | |
| 6 | g.152122623G>A | CA366089135 | ESR1,SYNE1 | c.2741C>T (p.Ser914Phe) c.26207C>T (p.Ser8736Phe) c.26063C>T (p.Ser8688Phe) c.1550C>T c.1925C>T c.1792C>T c.2057C>T (n.2057C>T) c.24992C>T (p.Ser8331Phe) n.2955C>T c.4983C>T (n.4983C>T) n.9899C>T c.4086C>T (n.4086C>T) n.9791C>T c.851-2643G>A (n.851-2643G>A) n.2821C>T n.6844C>T n.2985C>T c.2672C>T (p.Ser891Phe) c.26354C>T (p.Ser8785Phe) c.26342C>T (p.Ser8781Phe) c.26333C>T (p.Ser8778Phe) c.26312C>T (p.Ser8771Phe) c.26303C>T (p.Ser8768Phe) c.26297C>T (p.Ser8766Phe) c.26285C>T (p.Ser8762Phe) c.26282C>T (p.Ser8761Phe) c.26243C>T (p.Ser8748Phe) c.26228C>T (p.Ser8743Phe) c.26213C>T (p.Ser8738Phe) c.26201C>T (p.Ser8734Phe) c.26198C>T (p.Ser8733Phe) c.26195C>T (p.Ser8732Phe) c.*18C>T (n.*18C>T) c.26351C>T (p.Ser8784Phe) c.26339C>T (p.Ser8780Phe) c.26189C>T (p.Ser8730Phe) c.24629C>T (p.Ser8210Phe) c.24122C>T (p.Ser8041Phe) c.19589C>T (p.Ser6530Phe) c.26327C>T (p.Ser8776Phe) c.26276C>T (p.Ser8759Phe) c.26240C>T (p.Ser8747Phe) c.26087C>T (p.Ser8696Phe) | dbSNP |
| 6 | g.152122623G>C | CA366089137 | ESR1,SYNE1 | c.2741C>G (p.Ser914Cys) c.26207C>G (p.Ser8736Cys) c.26063C>G (p.Ser8688Cys) c.1550C>G c.1925C>G c.1792C>G c.2057C>G (n.2057C>G) c.24992C>G (p.Ser8331Cys) n.2955C>G c.4983C>G (n.4983C>G) n.9899C>G c.4086C>G (n.4086C>G) n.9791C>G c.851-2643G>C (n.851-2643G>C) n.2821C>G n.6844C>G n.2985C>G c.2672C>G (p.Ser891Cys) c.26354C>G (p.Ser8785Cys) c.26342C>G (p.Ser8781Cys) c.26333C>G (p.Ser8778Cys) c.26312C>G (p.Ser8771Cys) c.26303C>G (p.Ser8768Cys) c.26297C>G (p.Ser8766Cys) c.26285C>G (p.Ser8762Cys) c.26282C>G (p.Ser8761Cys) c.26243C>G (p.Ser8748Cys) c.26228C>G (p.Ser8743Cys) c.26213C>G (p.Ser8738Cys) c.26201C>G (p.Ser8734Cys) c.26198C>G (p.Ser8733Cys) c.26195C>G (p.Ser8732Cys) c.*18C>G (n.*18C>G) c.26351C>G (p.Ser8784Cys) c.26339C>G (p.Ser8780Cys) c.26189C>G (p.Ser8730Cys) c.24629C>G (p.Ser8210Cys) c.24122C>G (p.Ser8041Cys) c.19589C>G (p.Ser6530Cys) c.26327C>G (p.Ser8776Cys) c.26276C>G (p.Ser8759Cys) c.26240C>G (p.Ser8747Cys) c.26087C>G (p.Ser8696Cys) | gnomAD v4 |
| 6 | g.152122623G= | CA1673189139 | ESR1,SYNE1 | c.2741C= (p.Ser914=) c.26207C= (p.Ser8736=) c.26063C= (p.Ser8688=) c.1550C= c.1925C= c.1792C= c.2057C= (n.2057C=) c.24992C= (p.Ser8331=) n.2955C= c.4983C= (n.4983C=) n.9899C= c.4086C= (n.4086C=) n.9791C= c.851-2643G= (n.851-2643G=) n.2821C= n.6844C= n.2985C= c.2672C= (p.Ser891=) c.26354C= (p.Ser8785=) c.26342C= (p.Ser8781=) c.26333C= (p.Ser8778=) c.26312C= (p.Ser8771=) c.26303C= (p.Ser8768=) c.26297C= (p.Ser8766=) c.26285C= (p.Ser8762=) c.26282C= (p.Ser8761=) c.26243C= (p.Ser8748=) c.26228C= (p.Ser8743=) c.26213C= (p.Ser8738=) c.26201C= (p.Ser8734=) c.26198C= (p.Ser8733=) c.26195C= (p.Ser8732=) c.*18C= (n.*18C=) c.26351C= (p.Ser8784=) c.26339C= (p.Ser8780=) c.26189C= (p.Ser8730=) c.24629C= (p.Ser8210=) c.24122C= (p.Ser8041=) c.19589C= (p.Ser6530=) c.26327C= (p.Ser8776=) c.26276C= (p.Ser8759=) c.26240C= (p.Ser8747=) c.26087C= (p.Ser8696=) | |
| 6 | g.152122623G>T | CA366089139 | ESR1,SYNE1 | c.2741C>A (p.Ser914Tyr) c.26207C>A (p.Ser8736Tyr) c.26063C>A (p.Ser8688Tyr) c.1550C>A c.1925C>A c.1792C>A c.2057C>A (n.2057C>A) c.24992C>A (p.Ser8331Tyr) n.2955C>A c.4983C>A (n.4983C>A) n.9899C>A c.4086C>A (n.4086C>A) n.9791C>A c.851-2643G>T (n.851-2643G>T) n.2821C>A n.6844C>A n.2985C>A c.2672C>A (p.Ser891Tyr) c.26354C>A (p.Ser8785Tyr) c.26342C>A (p.Ser8781Tyr) c.26333C>A (p.Ser8778Tyr) c.26312C>A (p.Ser8771Tyr) c.26303C>A (p.Ser8768Tyr) c.26297C>A (p.Ser8766Tyr) c.26285C>A (p.Ser8762Tyr) c.26282C>A (p.Ser8761Tyr) c.26243C>A (p.Ser8748Tyr) c.26228C>A (p.Ser8743Tyr) c.26213C>A (p.Ser8738Tyr) c.26201C>A (p.Ser8734Tyr) c.26198C>A (p.Ser8733Tyr) c.26195C>A (p.Ser8732Tyr) c.*18C>A (n.*18C>A) c.26351C>A (p.Ser8784Tyr) c.26339C>A (p.Ser8780Tyr) c.26189C>A (p.Ser8730Tyr) c.24629C>A (p.Ser8210Tyr) c.24122C>A (p.Ser8041Tyr) c.19589C>A (p.Ser6530Tyr) c.26327C>A (p.Ser8776Tyr) c.26276C>A (p.Ser8759Tyr) c.26240C>A (p.Ser8747Tyr) c.26087C>A (p.Ser8696Tyr) | ClinVar dbSNP |
| 6 | g.152122624A= | CA1673189156 | ESR1,SYNE1 | c.2740T= (p.Ser914=) c.26206T= (p.Ser8736=) c.26062T= (p.Ser8688=) c.1549T= c.1924T= c.1791T= c.2056T= (n.2056T=) c.24991T= (p.Ser8331=) n.2954T= c.4982T= (n.4982T=) n.9898T= c.4085T= (n.4085T=) n.9790T= c.851-2642A= (n.851-2642A=) n.2820T= n.6843T= n.2984T= c.2671T= (p.Ser891=) c.26353T= (p.Ser8785=) c.26341T= (p.Ser8781=) c.26332T= (p.Ser8778=) c.26311T= (p.Ser8771=) c.26302T= (p.Ser8768=) c.26296T= (p.Ser8766=) c.26284T= (p.Ser8762=) c.26281T= (p.Ser8761=) c.26242T= (p.Ser8748=) c.26227T= (p.Ser8743=) c.26212T= (p.Ser8738=) c.26200T= (p.Ser8734=) c.26197T= (p.Ser8733=) c.26194T= (p.Ser8732=) c.*17T= (n.*17T=) c.26350T= (p.Ser8784=) c.26338T= (p.Ser8780=) c.26188T= (p.Ser8730=) c.24628T= (p.Ser8210=) c.24121T= (p.Ser8041=) c.19588T= (p.Ser6530=) c.26326T= (p.Ser8776=) c.26275T= (p.Ser8759=) c.26239T= (p.Ser8747=) c.26086T= (p.Ser8696=) | |
| 6 | g.152122624A>C | CA10606609 | ESR1,SYNE1 | c.2740T>G (p.Ser914Ala) c.26206T>G (p.Ser8736Ala) c.26062T>G (p.Ser8688Ala) c.1549T>G c.1924T>G c.1791T>G c.2056T>G (n.2056T>G) c.24991T>G (p.Ser8331Ala) n.2954T>G c.4982T>G (n.4982T>G) n.9898T>G c.4085T>G (n.4085T>G) n.9790T>G c.851-2642A>C (n.851-2642A>C) n.2820T>G n.6843T>G n.2984T>G c.2671T>G (p.Ser891Ala) c.26353T>G (p.Ser8785Ala) c.26341T>G (p.Ser8781Ala) c.26332T>G (p.Ser8778Ala) c.26311T>G (p.Ser8771Ala) c.26302T>G (p.Ser8768Ala) c.26296T>G (p.Ser8766Ala) c.26284T>G (p.Ser8762Ala) c.26281T>G (p.Ser8761Ala) c.26242T>G (p.Ser8748Ala) c.26227T>G (p.Ser8743Ala) c.26212T>G (p.Ser8738Ala) c.26200T>G (p.Ser8734Ala) c.26197T>G (p.Ser8733Ala) c.26194T>G (p.Ser8732Ala) c.*17T>G (n.*17T>G) c.26350T>G (p.Ser8784Ala) c.26338T>G (p.Ser8780Ala) c.26188T>G (p.Ser8730Ala) c.24628T>G (p.Ser8210Ala) c.24121T>G (p.Ser8041Ala) c.19588T>G (p.Ser6530Ala) c.26326T>G (p.Ser8776Ala) c.26275T>G (p.Ser8759Ala) c.26239T>G (p.Ser8747Ala) c.26086T>G (p.Ser8696Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122624A>G | CA366089142 | ESR1,SYNE1 | c.2740T>C (p.Ser914Pro) c.26206T>C (p.Ser8736Pro) c.26062T>C (p.Ser8688Pro) c.1549T>C c.1924T>C c.1791T>C c.2056T>C (n.2056T>C) c.24991T>C (p.Ser8331Pro) n.2954T>C c.4982T>C (n.4982T>C) n.9898T>C c.4085T>C (n.4085T>C) n.9790T>C c.851-2642A>G (n.851-2642A>G) n.2820T>C n.6843T>C n.2984T>C c.2671T>C (p.Ser891Pro) c.26353T>C (p.Ser8785Pro) c.26341T>C (p.Ser8781Pro) c.26332T>C (p.Ser8778Pro) c.26311T>C (p.Ser8771Pro) c.26302T>C (p.Ser8768Pro) c.26296T>C (p.Ser8766Pro) c.26284T>C (p.Ser8762Pro) c.26281T>C (p.Ser8761Pro) c.26242T>C (p.Ser8748Pro) c.26227T>C (p.Ser8743Pro) c.26212T>C (p.Ser8738Pro) c.26200T>C (p.Ser8734Pro) c.26197T>C (p.Ser8733Pro) c.26194T>C (p.Ser8732Pro) c.*17T>C (n.*17T>C) c.26350T>C (p.Ser8784Pro) c.26338T>C (p.Ser8780Pro) c.26188T>C (p.Ser8730Pro) c.24628T>C (p.Ser8210Pro) c.24121T>C (p.Ser8041Pro) c.19588T>C (p.Ser6530Pro) c.26326T>C (p.Ser8776Pro) c.26275T>C (p.Ser8759Pro) c.26239T>C (p.Ser8747Pro) c.26086T>C (p.Ser8696Pro) | |
| 6 | g.152122624A>T | CA366089144 | ESR1,SYNE1 | c.2740T>A (p.Ser914Thr) c.26206T>A (p.Ser8736Thr) c.26062T>A (p.Ser8688Thr) c.1549T>A c.1924T>A c.1791T>A c.2056T>A (n.2056T>A) c.24991T>A (p.Ser8331Thr) n.2954T>A c.4982T>A (n.4982T>A) n.9898T>A c.4085T>A (n.4085T>A) n.9790T>A c.851-2642A>T (n.851-2642A>T) n.2820T>A n.6843T>A n.2984T>A c.2671T>A (p.Ser891Thr) c.26353T>A (p.Ser8785Thr) c.26341T>A (p.Ser8781Thr) c.26332T>A (p.Ser8778Thr) c.26311T>A (p.Ser8771Thr) c.26302T>A (p.Ser8768Thr) c.26296T>A (p.Ser8766Thr) c.26284T>A (p.Ser8762Thr) c.26281T>A (p.Ser8761Thr) c.26242T>A (p.Ser8748Thr) c.26227T>A (p.Ser8743Thr) c.26212T>A (p.Ser8738Thr) c.26200T>A (p.Ser8734Thr) c.26197T>A (p.Ser8733Thr) c.26194T>A (p.Ser8732Thr) c.*17T>A (n.*17T>A) c.26350T>A (p.Ser8784Thr) c.26338T>A (p.Ser8780Thr) c.26188T>A (p.Ser8730Thr) c.24628T>A (p.Ser8210Thr) c.24121T>A (p.Ser8041Thr) c.19588T>A (p.Ser6530Thr) c.26326T>A (p.Ser8776Thr) c.26275T>A (p.Ser8759Thr) c.26239T>A (p.Ser8747Thr) c.26086T>A (p.Ser8696Thr) | |
| 6 | g.152122625C>A | CA4052607 | ESR1,SYNE1 | c.2739G>T (p.Arg913=) c.26205G>T (p.Arg8735=) c.26061G>T (p.Arg8687=) c.1548G>T c.1923G>T c.1790G>T c.2055G>T (n.2055G>T) c.24990G>T (p.Arg8330=) n.2953G>T c.4981G>T (n.4981G>T) n.9897G>T c.4084G>T (n.4084G>T) n.9789G>T c.851-2641C>A (n.851-2641C>A) n.2819G>T n.6842G>T n.2983G>T c.2670G>T (p.Arg890=) c.26352G>T (p.Arg8784=) c.26340G>T (p.Arg8780=) c.26331G>T (p.Arg8777=) c.26310G>T (p.Arg8770=) c.26301G>T (p.Arg8767=) c.26295G>T (p.Arg8765=) c.26283G>T (p.Arg8761=) c.26280G>T (p.Arg8760=) c.26241G>T (p.Arg8747=) c.26226G>T (p.Arg8742=) c.26211G>T (p.Arg8737=) c.26199G>T (p.Arg8733=) c.26196G>T (p.Arg8732=) c.26193G>T (p.Arg8731=) c.*16G>T (n.*16G>T) c.26349G>T (p.Arg8783=) c.26337G>T (p.Arg8779=) c.26187G>T (p.Arg8729=) c.24627G>T (p.Arg8209=) c.24120G>T (p.Arg8040=) c.19587G>T (p.Arg6529=) c.26325G>T (p.Arg8775=) c.26274G>T (p.Arg8758=) c.26238G>T (p.Arg8746=) c.26085G>T (p.Arg8695=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122625C= | CA1673189169 | ESR1,SYNE1 | c.2739G= (p.Arg913=) c.26205G= (p.Arg8735=) c.26061G= (p.Arg8687=) c.1548G= c.1923G= c.1790G= c.2055G= (n.2055G=) c.24990G= (p.Arg8330=) n.2953G= c.4981G= (n.4981G=) n.9897G= c.4084G= (n.4084G=) n.9789G= c.851-2641C= (n.851-2641C=) n.2819G= n.6842G= n.2983G= c.2670G= (p.Arg890=) c.26352G= (p.Arg8784=) c.26340G= (p.Arg8780=) c.26331G= (p.Arg8777=) c.26310G= (p.Arg8770=) c.26301G= (p.Arg8767=) c.26295G= (p.Arg8765=) c.26283G= (p.Arg8761=) c.26280G= (p.Arg8760=) c.26241G= (p.Arg8747=) c.26226G= (p.Arg8742=) c.26211G= (p.Arg8737=) c.26199G= (p.Arg8733=) c.26196G= (p.Arg8732=) c.26193G= (p.Arg8731=) c.*16G= (n.*16G=) c.26349G= (p.Arg8783=) c.26337G= (p.Arg8779=) c.26187G= (p.Arg8729=) c.24627G= (p.Arg8209=) c.24120G= (p.Arg8040=) c.19587G= (p.Arg6529=) c.26325G= (p.Arg8775=) c.26274G= (p.Arg8758=) c.26238G= (p.Arg8746=) c.26085G= (p.Arg8695=) | |
| 6 | g.152122625C>G | CA452969665 | ESR1,SYNE1 | c.2739G>C (p.Arg913=) c.26205G>C (p.Arg8735=) c.26061G>C (p.Arg8687=) c.1548G>C c.1923G>C c.1790G>C c.2055G>C (n.2055G>C) c.24990G>C (p.Arg8330=) n.2953G>C c.4981G>C (n.4981G>C) n.9897G>C c.4084G>C (n.4084G>C) n.9789G>C c.851-2641C>G (n.851-2641C>G) n.2819G>C n.6842G>C n.2983G>C c.2670G>C (p.Arg890=) c.26352G>C (p.Arg8784=) c.26340G>C (p.Arg8780=) c.26331G>C (p.Arg8777=) c.26310G>C (p.Arg8770=) c.26301G>C (p.Arg8767=) c.26295G>C (p.Arg8765=) c.26283G>C (p.Arg8761=) c.26280G>C (p.Arg8760=) c.26241G>C (p.Arg8747=) c.26226G>C (p.Arg8742=) c.26211G>C (p.Arg8737=) c.26199G>C (p.Arg8733=) c.26196G>C (p.Arg8732=) c.26193G>C (p.Arg8731=) c.*16G>C (n.*16G>C) c.26349G>C (p.Arg8783=) c.26337G>C (p.Arg8779=) c.26187G>C (p.Arg8729=) c.24627G>C (p.Arg8209=) c.24120G>C (p.Arg8040=) c.19587G>C (p.Arg6529=) c.26325G>C (p.Arg8775=) c.26274G>C (p.Arg8758=) c.26238G>C (p.Arg8746=) c.26085G>C (p.Arg8695=) | |
| 6 | g.152122625C>T | CA452969666 | ESR1,SYNE1 | c.2739G>A (p.Arg913=) c.26205G>A (p.Arg8735=) c.26061G>A (p.Arg8687=) c.1548G>A c.1923G>A c.1790G>A c.2055G>A (n.2055G>A) c.24990G>A (p.Arg8330=) n.2953G>A c.4981G>A (n.4981G>A) n.9897G>A c.4084G>A (n.4084G>A) n.9789G>A c.851-2641C>T (n.851-2641C>T) n.2819G>A n.6842G>A n.2983G>A c.2670G>A (p.Arg890=) c.26352G>A (p.Arg8784=) c.26340G>A (p.Arg8780=) c.26331G>A (p.Arg8777=) c.26310G>A (p.Arg8770=) c.26301G>A (p.Arg8767=) c.26295G>A (p.Arg8765=) c.26283G>A (p.Arg8761=) c.26280G>A (p.Arg8760=) c.26241G>A (p.Arg8747=) c.26226G>A (p.Arg8742=) c.26211G>A (p.Arg8737=) c.26199G>A (p.Arg8733=) c.26196G>A (p.Arg8732=) c.26193G>A (p.Arg8731=) c.*16G>A (n.*16G>A) c.26349G>A (p.Arg8783=) c.26337G>A (p.Arg8779=) c.26187G>A (p.Arg8729=) c.24627G>A (p.Arg8209=) c.24120G>A (p.Arg8040=) c.19587G>A (p.Arg6529=) c.26325G>A (p.Arg8775=) c.26274G>A (p.Arg8758=) c.26238G>A (p.Arg8746=) c.26085G>A (p.Arg8695=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.152122626C>A | CA4052608 | ESR1,SYNE1 | c.2738G>T (p.Arg913Leu) c.26204G>T (p.Arg8735Leu) c.26060G>T (p.Arg8687Leu) c.1547G>T c.1922G>T c.1789G>T c.2054G>T (n.2054G>T) c.24989G>T (p.Arg8330Leu) n.2952G>T c.4980G>T (n.4980G>T) n.9896G>T c.4083G>T (n.4083G>T) n.9788G>T c.851-2640C>A (n.851-2640C>A) n.2818G>T n.6841G>T n.2982G>T c.2669G>T (p.Arg890Leu) c.26351G>T (p.Arg8784Leu) c.26339G>T (p.Arg8780Leu) c.26330G>T (p.Arg8777Leu) c.26309G>T (p.Arg8770Leu) c.26300G>T (p.Arg8767Leu) c.26294G>T (p.Arg8765Leu) c.26282G>T (p.Arg8761Leu) c.26279G>T (p.Arg8760Leu) c.26240G>T (p.Arg8747Leu) c.26225G>T (p.Arg8742Leu) c.26210G>T (p.Arg8737Leu) c.26198G>T (p.Arg8733Leu) c.26195G>T (p.Arg8732Leu) c.26192G>T (p.Arg8731Leu) c.*15G>T (n.*15G>T) c.26348G>T (p.Arg8783Leu) c.26336G>T (p.Arg8779Leu) c.26186G>T (p.Arg8729Leu) c.24626G>T (p.Arg8209Leu) c.24119G>T (p.Arg8040Leu) c.19586G>T (p.Arg6529Leu) c.26324G>T (p.Arg8775Leu) c.26273G>T (p.Arg8758Leu) c.26237G>T (p.Arg8746Leu) c.26084G>T (p.Arg8695Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122626C= | CA1673189184 | ESR1,SYNE1 | c.2738G= (p.Arg913=) c.26204G= (p.Arg8735=) c.26060G= (p.Arg8687=) c.1547G= c.1922G= c.1789G= c.2054G= (n.2054G=) c.24989G= (p.Arg8330=) n.2952G= c.4980G= (n.4980G=) n.9896G= c.4083G= (n.4083G=) n.9788G= c.851-2640C= (n.851-2640C=) n.2818G= n.6841G= n.2982G= c.2669G= (p.Arg890=) c.26351G= (p.Arg8784=) c.26339G= (p.Arg8780=) c.26330G= (p.Arg8777=) c.26309G= (p.Arg8770=) c.26300G= (p.Arg8767=) c.26294G= (p.Arg8765=) c.26282G= (p.Arg8761=) c.26279G= (p.Arg8760=) c.26240G= (p.Arg8747=) c.26225G= (p.Arg8742=) c.26210G= (p.Arg8737=) c.26198G= (p.Arg8733=) c.26195G= (p.Arg8732=) c.26192G= (p.Arg8731=) c.*15G= (n.*15G=) c.26348G= (p.Arg8783=) c.26336G= (p.Arg8779=) c.26186G= (p.Arg8729=) c.24626G= (p.Arg8209=) c.24119G= (p.Arg8040=) c.19586G= (p.Arg6529=) c.26324G= (p.Arg8775=) c.26273G= (p.Arg8758=) c.26237G= (p.Arg8746=) c.26084G= (p.Arg8695=) | |
| 6 | g.152122626C>G | CA366089147 | ESR1,SYNE1 | c.2738G>C (p.Arg913Pro) c.26204G>C (p.Arg8735Pro) c.26060G>C (p.Arg8687Pro) c.1547G>C c.1922G>C c.1789G>C c.2054G>C (n.2054G>C) c.24989G>C (p.Arg8330Pro) n.2952G>C c.4980G>C (n.4980G>C) n.9896G>C c.4083G>C (n.4083G>C) n.9788G>C c.851-2640C>G (n.851-2640C>G) n.2818G>C n.6841G>C n.2982G>C c.2669G>C (p.Arg890Pro) c.26351G>C (p.Arg8784Pro) c.26339G>C (p.Arg8780Pro) c.26330G>C (p.Arg8777Pro) c.26309G>C (p.Arg8770Pro) c.26300G>C (p.Arg8767Pro) c.26294G>C (p.Arg8765Pro) c.26282G>C (p.Arg8761Pro) c.26279G>C (p.Arg8760Pro) c.26240G>C (p.Arg8747Pro) c.26225G>C (p.Arg8742Pro) c.26210G>C (p.Arg8737Pro) c.26198G>C (p.Arg8733Pro) c.26195G>C (p.Arg8732Pro) c.26192G>C (p.Arg8731Pro) c.*15G>C (n.*15G>C) c.26348G>C (p.Arg8783Pro) c.26336G>C (p.Arg8779Pro) c.26186G>C (p.Arg8729Pro) c.24626G>C (p.Arg8209Pro) c.24119G>C (p.Arg8040Pro) c.19586G>C (p.Arg6529Pro) c.26324G>C (p.Arg8775Pro) c.26273G>C (p.Arg8758Pro) c.26237G>C (p.Arg8746Pro) c.26084G>C (p.Arg8695Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152122626C>T | CA155446 | ESR1,SYNE1 | c.2738G>A (p.Arg913Gln) c.26204G>A (p.Arg8735Gln) c.26060G>A (p.Arg8687Gln) c.1547G>A c.1922G>A c.1789G>A c.2054G>A (n.2054G>A) c.24989G>A (p.Arg8330Gln) n.2952G>A c.4980G>A (n.4980G>A) n.9896G>A c.4083G>A (n.4083G>A) n.9788G>A c.851-2640C>T (n.851-2640C>T) n.2818G>A n.6841G>A n.2982G>A c.2669G>A (p.Arg890Gln) c.26351G>A (p.Arg8784Gln) c.26339G>A (p.Arg8780Gln) c.26330G>A (p.Arg8777Gln) c.26309G>A (p.Arg8770Gln) c.26300G>A (p.Arg8767Gln) c.26294G>A (p.Arg8765Gln) c.26282G>A (p.Arg8761Gln) c.26279G>A (p.Arg8760Gln) c.26240G>A (p.Arg8747Gln) c.26225G>A (p.Arg8742Gln) c.26210G>A (p.Arg8737Gln) c.26198G>A (p.Arg8733Gln) c.26195G>A (p.Arg8732Gln) c.26192G>A (p.Arg8731Gln) c.*15G>A (n.*15G>A) c.26348G>A (p.Arg8783Gln) c.26336G>A (p.Arg8779Gln) c.26186G>A (p.Arg8729Gln) c.24626G>A (p.Arg8209Gln) c.24119G>A (p.Arg8040Gln) c.19586G>A (p.Arg6529Gln) c.26324G>A (p.Arg8775Gln) c.26273G>A (p.Arg8758Gln) c.26237G>A (p.Arg8746Gln) c.26084G>A (p.Arg8695Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122627G>A | CA4052609 | ESR1,SYNE1 | c.2737C>T (p.Arg913Trp) c.26203C>T (p.Arg8735Trp) c.26059C>T (p.Arg8687Trp) c.1546C>T c.1921C>T c.1788C>T c.2053C>T (n.2053C>T) c.24988C>T (p.Arg8330Trp) n.2951C>T c.4979C>T (n.4979C>T) n.9895C>T c.4082C>T (n.4082C>T) n.9787C>T c.851-2639G>A (n.851-2639G>A) n.2817C>T n.6840C>T n.2981C>T c.2668C>T (p.Arg890Trp) c.26350C>T (p.Arg8784Trp) c.26338C>T (p.Arg8780Trp) c.26329C>T (p.Arg8777Trp) c.26308C>T (p.Arg8770Trp) c.26299C>T (p.Arg8767Trp) c.26293C>T (p.Arg8765Trp) c.26281C>T (p.Arg8761Trp) c.26278C>T (p.Arg8760Trp) c.26239C>T (p.Arg8747Trp) c.26224C>T (p.Arg8742Trp) c.26209C>T (p.Arg8737Trp) c.26197C>T (p.Arg8733Trp) c.26194C>T (p.Arg8732Trp) c.26191C>T (p.Arg8731Trp) c.*14C>T (n.*14C>T) c.26347C>T (p.Arg8783Trp) c.26335C>T (p.Arg8779Trp) c.26185C>T (p.Arg8729Trp) c.24625C>T (p.Arg8209Trp) c.24118C>T (p.Arg8040Trp) c.19585C>T (p.Arg6529Trp) c.26323C>T (p.Arg8775Trp) c.26272C>T (p.Arg8758Trp) c.26236C>T (p.Arg8746Trp) c.26083C>T (p.Arg8695Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.152122627G>C | CA366089151 | ESR1,SYNE1 | c.2737C>G (p.Arg913Gly) c.26203C>G (p.Arg8735Gly) c.26059C>G (p.Arg8687Gly) c.1546C>G c.1921C>G c.1788C>G c.2053C>G (n.2053C>G) c.24988C>G (p.Arg8330Gly) n.2951C>G c.4979C>G (n.4979C>G) n.9895C>G c.4082C>G (n.4082C>G) n.9787C>G c.851-2639G>C (n.851-2639G>C) n.2817C>G n.6840C>G n.2981C>G c.2668C>G (p.Arg890Gly) c.26350C>G (p.Arg8784Gly) c.26338C>G (p.Arg8780Gly) c.26329C>G (p.Arg8777Gly) c.26308C>G (p.Arg8770Gly) c.26299C>G (p.Arg8767Gly) c.26293C>G (p.Arg8765Gly) c.26281C>G (p.Arg8761Gly) c.26278C>G (p.Arg8760Gly) c.26239C>G (p.Arg8747Gly) c.26224C>G (p.Arg8742Gly) c.26209C>G (p.Arg8737Gly) c.26197C>G (p.Arg8733Gly) c.26194C>G (p.Arg8732Gly) c.26191C>G (p.Arg8731Gly) c.*14C>G (n.*14C>G) c.26347C>G (p.Arg8783Gly) c.26335C>G (p.Arg8779Gly) c.26185C>G (p.Arg8729Gly) c.24625C>G (p.Arg8209Gly) c.24118C>G (p.Arg8040Gly) c.19585C>G (p.Arg6529Gly) c.26323C>G (p.Arg8775Gly) c.26272C>G (p.Arg8758Gly) c.26236C>G (p.Arg8746Gly) c.26083C>G (p.Arg8695Gly) | gnomAD v4 |
| 6 | g.152122627G= | CA1673189195 | ESR1,SYNE1 | c.2737C= (p.Arg913=) c.26203C= (p.Arg8735=) c.26059C= (p.Arg8687=) c.1546C= c.1921C= c.1788C= c.2053C= (n.2053C=) c.24988C= (p.Arg8330=) n.2951C= c.4979C= (n.4979C=) n.9895C= c.4082C= (n.4082C=) n.9787C= c.851-2639G= (n.851-2639G=) n.2817C= n.6840C= n.2981C= c.2668C= (p.Arg890=) c.26350C= (p.Arg8784=) c.26338C= (p.Arg8780=) c.26329C= (p.Arg8777=) c.26308C= (p.Arg8770=) c.26299C= (p.Arg8767=) c.26293C= (p.Arg8765=) c.26281C= (p.Arg8761=) c.26278C= (p.Arg8760=) c.26239C= (p.Arg8747=) c.26224C= (p.Arg8742=) c.26209C= (p.Arg8737=) c.26197C= (p.Arg8733=) c.26194C= (p.Arg8732=) c.26191C= (p.Arg8731=) c.*14C= (n.*14C=) c.26347C= (p.Arg8783=) c.26335C= (p.Arg8779=) c.26185C= (p.Arg8729=) c.24625C= (p.Arg8209=) c.24118C= (p.Arg8040=) c.19585C= (p.Arg6529=) c.26323C= (p.Arg8775=) c.26272C= (p.Arg8758=) c.26236C= (p.Arg8746=) c.26083C= (p.Arg8695=) | |
| 6 | g.152122627G>T | CA452969667 | ESR1,SYNE1 | c.2737C>A (p.Arg913=) c.26203C>A (p.Arg8735=) c.26059C>A (p.Arg8687=) c.1546C>A c.1921C>A c.1788C>A c.2053C>A (n.2053C>A) c.24988C>A (p.Arg8330=) n.2951C>A c.4979C>A (n.4979C>A) n.9895C>A c.4082C>A (n.4082C>A) n.9787C>A c.851-2639G>T (n.851-2639G>T) n.2817C>A n.6840C>A n.2981C>A c.2668C>A (p.Arg890=) c.26350C>A (p.Arg8784=) c.26338C>A (p.Arg8780=) c.26329C>A (p.Arg8777=) c.26308C>A (p.Arg8770=) c.26299C>A (p.Arg8767=) c.26293C>A (p.Arg8765=) c.26281C>A (p.Arg8761=) c.26278C>A (p.Arg8760=) c.26239C>A (p.Arg8747=) c.26224C>A (p.Arg8742=) c.26209C>A (p.Arg8737=) c.26197C>A (p.Arg8733=) c.26194C>A (p.Arg8732=) c.26191C>A (p.Arg8731=) c.*14C>A (n.*14C>A) c.26347C>A (p.Arg8783=) c.26335C>A (p.Arg8779=) c.26185C>A (p.Arg8729=) c.24625C>A (p.Arg8209=) c.24118C>A (p.Arg8040=) c.19585C>A (p.Arg6529=) c.26323C>A (p.Arg8775=) c.26272C>A (p.Arg8758=) c.26236C>A (p.Arg8746=) c.26083C>A (p.Arg8695=) | gnomAD v4 |
| 6 | g.152122628A>C | CA452969670 | ESR1,SYNE1 | c.2736T>G (p.Gly912=) c.26202T>G (p.Gly8734=) c.26058T>G (p.Gly8686=) c.1545T>G c.1920T>G c.1787T>G c.2052T>G (n.2052T>G) c.24987T>G (p.Gly8329=) n.2950T>G c.4978T>G (n.4978T>G) n.9894T>G c.4081T>G (n.4081T>G) n.9786T>G c.851-2638A>C (n.851-2638A>C) n.2816T>G n.6839T>G n.2980T>G c.2667T>G (p.Gly889=) c.26349T>G (p.Gly8783=) c.26337T>G (p.Gly8779=) c.26328T>G (p.Gly8776=) c.26307T>G (p.Gly8769=) c.26298T>G (p.Gly8766=) c.26292T>G (p.Gly8764=) c.26280T>G (p.Gly8760=) c.26277T>G (p.Gly8759=) c.26238T>G (p.Gly8746=) c.26223T>G (p.Gly8741=) c.26208T>G (p.Gly8736=) c.26196T>G (p.Gly8732=) c.26193T>G (p.Gly8731=) c.26190T>G (p.Gly8730=) c.*13T>G (n.*13T>G) c.26346T>G (p.Gly8782=) c.26334T>G (p.Gly8778=) c.26184T>G (p.Gly8728=) c.24624T>G (p.Gly8208=) c.24117T>G (p.Gly8039=) c.19584T>G (p.Gly6528=) c.26322T>G (p.Gly8774=) c.26271T>G (p.Gly8757=) c.26235T>G (p.Gly8745=) c.26082T>G (p.Gly8694=) | |
| 6 | g.152122628A>G | CA452969669 | ESR1,SYNE1 | c.2736T>C (p.Gly912=) c.26202T>C (p.Gly8734=) c.26058T>C (p.Gly8686=) c.1545T>C c.1920T>C c.1787T>C c.2052T>C (n.2052T>C) c.24987T>C (p.Gly8329=) n.2950T>C c.4978T>C (n.4978T>C) n.9894T>C c.4081T>C (n.4081T>C) n.9786T>C c.851-2638A>G (n.851-2638A>G) n.2816T>C n.6839T>C n.2980T>C c.2667T>C (p.Gly889=) c.26349T>C (p.Gly8783=) c.26337T>C (p.Gly8779=) c.26328T>C (p.Gly8776=) c.26307T>C (p.Gly8769=) c.26298T>C (p.Gly8766=) c.26292T>C (p.Gly8764=) c.26280T>C (p.Gly8760=) c.26277T>C (p.Gly8759=) c.26238T>C (p.Gly8746=) c.26223T>C (p.Gly8741=) c.26208T>C (p.Gly8736=) c.26196T>C (p.Gly8732=) c.26193T>C (p.Gly8731=) c.26190T>C (p.Gly8730=) c.*13T>C (n.*13T>C) c.26346T>C (p.Gly8782=) c.26334T>C (p.Gly8778=) c.26184T>C (p.Gly8728=) c.24624T>C (p.Gly8208=) c.24117T>C (p.Gly8039=) c.19584T>C (p.Gly6528=) c.26322T>C (p.Gly8774=) c.26271T>C (p.Gly8757=) c.26235T>C (p.Gly8745=) c.26082T>C (p.Gly8694=) | |
| 6 | g.152122628A>T | CA452969672 | ESR1,SYNE1 | c.2736T>A (p.Gly912=) c.26202T>A (p.Gly8734=) c.26058T>A (p.Gly8686=) c.1545T>A c.1920T>A c.1787T>A c.2052T>A (n.2052T>A) c.24987T>A (p.Gly8329=) n.2950T>A c.4978T>A (n.4978T>A) n.9894T>A c.4081T>A (n.4081T>A) n.9786T>A c.851-2638A>T (n.851-2638A>T) n.2816T>A n.6839T>A n.2980T>A c.2667T>A (p.Gly889=) c.26349T>A (p.Gly8783=) c.26337T>A (p.Gly8779=) c.26328T>A (p.Gly8776=) c.26307T>A (p.Gly8769=) c.26298T>A (p.Gly8766=) c.26292T>A (p.Gly8764=) c.26280T>A (p.Gly8760=) c.26277T>A (p.Gly8759=) c.26238T>A (p.Gly8746=) c.26223T>A (p.Gly8741=) c.26208T>A (p.Gly8736=) c.26196T>A (p.Gly8732=) c.26193T>A (p.Gly8731=) c.26190T>A (p.Gly8730=) c.*13T>A (n.*13T>A) c.26346T>A (p.Gly8782=) c.26334T>A (p.Gly8778=) c.26184T>A (p.Gly8728=) c.24624T>A (p.Gly8208=) c.24117T>A (p.Gly8039=) c.19584T>A (p.Gly6528=) c.26322T>A (p.Gly8774=) c.26271T>A (p.Gly8757=) c.26235T>A (p.Gly8745=) c.26082T>A (p.Gly8694=) | |
| 6 | g.152122629C>A | CA366089153 | ESR1,SYNE1 | c.2735G>T (p.Gly912Val) c.26201G>T (p.Gly8734Val) c.26057G>T (p.Gly8686Val) c.1544G>T c.1919G>T c.1786G>T c.2051G>T (n.2051G>T) c.24986G>T (p.Gly8329Val) n.2949G>T c.4977G>T (n.4977G>T) n.9893G>T c.4080G>T (n.4080G>T) n.9785G>T c.851-2637C>A (n.851-2637C>A) n.2815G>T n.6838G>T n.2979G>T c.2666G>T (p.Gly889Val) c.26348G>T (p.Gly8783Val) c.26336G>T (p.Gly8779Val) c.26327G>T (p.Gly8776Val) c.26306G>T (p.Gly8769Val) c.26297G>T (p.Gly8766Val) c.26291G>T (p.Gly8764Val) c.26279G>T (p.Gly8760Val) c.26276G>T (p.Gly8759Val) c.26237G>T (p.Gly8746Val) c.26222G>T (p.Gly8741Val) c.26207G>T (p.Gly8736Val) c.26195G>T (p.Gly8732Val) c.26192G>T (p.Gly8731Val) c.26189G>T (p.Gly8730Val) c.*12G>T (n.*12G>T) c.26345G>T (p.Gly8782Val) c.26333G>T (p.Gly8778Val) c.26183G>T (p.Gly8728Val) c.24623G>T (p.Gly8208Val) c.24116G>T (p.Gly8039Val) c.19583G>T (p.Gly6528Val) c.26321G>T (p.Gly8774Val) c.26270G>T (p.Gly8757Val) c.26234G>T (p.Gly8745Val) c.26081G>T (p.Gly8694Val) | |
| 6 | g.152122629C>G | CA366089155 | ESR1,SYNE1 | c.2735G>C (p.Gly912Ala) c.26201G>C (p.Gly8734Ala) c.26057G>C (p.Gly8686Ala) c.1544G>C c.1919G>C c.1786G>C c.2051G>C (n.2051G>C) c.24986G>C (p.Gly8329Ala) n.2949G>C c.4977G>C (n.4977G>C) n.9893G>C c.4080G>C (n.4080G>C) n.9785G>C c.851-2637C>G (n.851-2637C>G) n.2815G>C n.6838G>C n.2979G>C c.2666G>C (p.Gly889Ala) c.26348G>C (p.Gly8783Ala) c.26336G>C (p.Gly8779Ala) c.26327G>C (p.Gly8776Ala) c.26306G>C (p.Gly8769Ala) c.26297G>C (p.Gly8766Ala) c.26291G>C (p.Gly8764Ala) c.26279G>C (p.Gly8760Ala) c.26276G>C (p.Gly8759Ala) c.26237G>C (p.Gly8746Ala) c.26222G>C (p.Gly8741Ala) c.26207G>C (p.Gly8736Ala) c.26195G>C (p.Gly8732Ala) c.26192G>C (p.Gly8731Ala) c.26189G>C (p.Gly8730Ala) c.*12G>C (n.*12G>C) c.26345G>C (p.Gly8782Ala) c.26333G>C (p.Gly8778Ala) c.26183G>C (p.Gly8728Ala) c.24623G>C (p.Gly8208Ala) c.24116G>C (p.Gly8039Ala) c.19583G>C (p.Gly6528Ala) c.26321G>C (p.Gly8774Ala) c.26270G>C (p.Gly8757Ala) c.26234G>C (p.Gly8745Ala) c.26081G>C (p.Gly8694Ala) | |
| 6 | g.152122629C>T | CA366089157 | ESR1,SYNE1 | c.2735G>A (p.Gly912Asp) c.26201G>A (p.Gly8734Asp) c.26057G>A (p.Gly8686Asp) c.1544G>A c.1919G>A c.1786G>A c.2051G>A (n.2051G>A) c.24986G>A (p.Gly8329Asp) n.2949G>A c.4977G>A (n.4977G>A) n.9893G>A c.4080G>A (n.4080G>A) n.9785G>A c.851-2637C>T (n.851-2637C>T) n.2815G>A n.6838G>A n.2979G>A c.2666G>A (p.Gly889Asp) c.26348G>A (p.Gly8783Asp) c.26336G>A (p.Gly8779Asp) c.26327G>A (p.Gly8776Asp) c.26306G>A (p.Gly8769Asp) c.26297G>A (p.Gly8766Asp) c.26291G>A (p.Gly8764Asp) c.26279G>A (p.Gly8760Asp) c.26276G>A (p.Gly8759Asp) c.26237G>A (p.Gly8746Asp) c.26222G>A (p.Gly8741Asp) c.26207G>A (p.Gly8736Asp) c.26195G>A (p.Gly8732Asp) c.26192G>A (p.Gly8731Asp) c.26189G>A (p.Gly8730Asp) c.*12G>A (n.*12G>A) c.26345G>A (p.Gly8782Asp) c.26333G>A (p.Gly8778Asp) c.26183G>A (p.Gly8728Asp) c.24623G>A (p.Gly8208Asp) c.24116G>A (p.Gly8039Asp) c.19583G>A (p.Gly6528Asp) c.26321G>A (p.Gly8774Asp) c.26270G>A (p.Gly8757Asp) c.26234G>A (p.Gly8745Asp) c.26081G>A (p.Gly8694Asp) | |
| 6 | g.152122630C>A | CA366089163 | ESR1,SYNE1 | c.2734G>T (p.Gly912Cys) c.26200G>T (p.Gly8734Cys) c.26056G>T (p.Gly8686Cys) c.1543G>T c.1918G>T c.1785G>T c.2050G>T (n.2050G>T) c.24985G>T (p.Gly8329Cys) n.2948G>T c.4976G>T (n.4976G>T) n.9892G>T c.4079G>T (n.4079G>T) n.9784G>T c.851-2636C>A (n.851-2636C>A) n.2814G>T n.6837G>T n.2978G>T c.2665G>T (p.Gly889Cys) c.26347G>T (p.Gly8783Cys) c.26335G>T (p.Gly8779Cys) c.26326G>T (p.Gly8776Cys) c.26305G>T (p.Gly8769Cys) c.26296G>T (p.Gly8766Cys) c.26290G>T (p.Gly8764Cys) c.26278G>T (p.Gly8760Cys) c.26275G>T (p.Gly8759Cys) c.26236G>T (p.Gly8746Cys) c.26221G>T (p.Gly8741Cys) c.26206G>T (p.Gly8736Cys) c.26194G>T (p.Gly8732Cys) c.26191G>T (p.Gly8731Cys) c.26188G>T (p.Gly8730Cys) c.*11G>T (n.*11G>T) c.26344G>T (p.Gly8782Cys) c.26332G>T (p.Gly8778Cys) c.26182G>T (p.Gly8728Cys) c.24622G>T (p.Gly8208Cys) c.24115G>T (p.Gly8039Cys) c.19582G>T (p.Gly6528Cys) c.26320G>T (p.Gly8774Cys) c.26269G>T (p.Gly8757Cys) c.26233G>T (p.Gly8745Cys) c.26080G>T (p.Gly8694Cys) | |
| 6 | g.152122630C>G | CA366089162 | ESR1,SYNE1 | c.2734G>C (p.Gly912Arg) c.26200G>C (p.Gly8734Arg) c.26056G>C (p.Gly8686Arg) c.1543G>C c.1918G>C c.1785G>C c.2050G>C (n.2050G>C) c.24985G>C (p.Gly8329Arg) n.2948G>C c.4976G>C (n.4976G>C) n.9892G>C c.4079G>C (n.4079G>C) n.9784G>C c.851-2636C>G (n.851-2636C>G) n.2814G>C n.6837G>C n.2978G>C c.2665G>C (p.Gly889Arg) c.26347G>C (p.Gly8783Arg) c.26335G>C (p.Gly8779Arg) c.26326G>C (p.Gly8776Arg) c.26305G>C (p.Gly8769Arg) c.26296G>C (p.Gly8766Arg) c.26290G>C (p.Gly8764Arg) c.26278G>C (p.Gly8760Arg) c.26275G>C (p.Gly8759Arg) c.26236G>C (p.Gly8746Arg) c.26221G>C (p.Gly8741Arg) c.26206G>C (p.Gly8736Arg) c.26194G>C (p.Gly8732Arg) c.26191G>C (p.Gly8731Arg) c.26188G>C (p.Gly8730Arg) c.*11G>C (n.*11G>C) c.26344G>C (p.Gly8782Arg) c.26332G>C (p.Gly8778Arg) c.26182G>C (p.Gly8728Arg) c.24622G>C (p.Gly8208Arg) c.24115G>C (p.Gly8039Arg) c.19582G>C (p.Gly6528Arg) c.26320G>C (p.Gly8774Arg) c.26269G>C (p.Gly8757Arg) c.26233G>C (p.Gly8745Arg) c.26080G>C (p.Gly8694Arg) | |
| 6 | g.152122630C>T | CA366089160 | ESR1,SYNE1 | c.2734G>A (p.Gly912Ser) c.26200G>A (p.Gly8734Ser) c.26056G>A (p.Gly8686Ser) c.1543G>A c.1918G>A c.1785G>A c.2050G>A (n.2050G>A) c.24985G>A (p.Gly8329Ser) n.2948G>A c.4976G>A (n.4976G>A) n.9892G>A c.4079G>A (n.4079G>A) n.9784G>A c.851-2636C>T (n.851-2636C>T) n.2814G>A n.6837G>A n.2978G>A c.2665G>A (p.Gly889Ser) c.26347G>A (p.Gly8783Ser) c.26335G>A (p.Gly8779Ser) c.26326G>A (p.Gly8776Ser) c.26305G>A (p.Gly8769Ser) c.26296G>A (p.Gly8766Ser) c.26290G>A (p.Gly8764Ser) c.26278G>A (p.Gly8760Ser) c.26275G>A (p.Gly8759Ser) c.26236G>A (p.Gly8746Ser) c.26221G>A (p.Gly8741Ser) c.26206G>A (p.Gly8736Ser) c.26194G>A (p.Gly8732Ser) c.26191G>A (p.Gly8731Ser) c.26188G>A (p.Gly8730Ser) c.*11G>A (n.*11G>A) c.26344G>A (p.Gly8782Ser) c.26332G>A (p.Gly8778Ser) c.26182G>A (p.Gly8728Ser) c.24622G>A (p.Gly8208Ser) c.24115G>A (p.Gly8039Ser) c.19582G>A (p.Gly6528Ser) c.26320G>A (p.Gly8774Ser) c.26269G>A (p.Gly8757Ser) c.26233G>A (p.Gly8745Ser) c.26080G>A (p.Gly8694Ser) | |
| 6 | g.152122631T>A | CA452969675 | ESR1,SYNE1 | c.2733A>T (p.Pro911=) c.26199A>T (p.Pro8733=) c.26055A>T (p.Pro8685=) c.1542A>T c.1917A>T c.1784A>T c.2049A>T (n.2049A>T) c.24984A>T (p.Pro8328=) n.2947A>T c.4975A>T (n.4975A>T) n.9891A>T c.4078A>T (n.4078A>T) n.9783A>T c.851-2635T>A (n.851-2635T>A) n.2813A>T n.6836A>T n.2977A>T c.2664A>T (p.Pro888=) c.26346A>T (p.Pro8782=) c.26334A>T (p.Pro8778=) c.26325A>T (p.Pro8775=) c.26304A>T (p.Pro8768=) c.26295A>T (p.Pro8765=) c.26289A>T (p.Pro8763=) c.26277A>T (p.Pro8759=) c.26274A>T (p.Pro8758=) c.26235A>T (p.Pro8745=) c.26220A>T (p.Pro8740=) c.26205A>T (p.Pro8735=) c.26193A>T (p.Pro8731=) c.26190A>T (p.Pro8730=) c.26187A>T (p.Pro8729=) c.*10A>T (n.*10A>T) c.26343A>T (p.Pro8781=) c.26331A>T (p.Pro8777=) c.26181A>T (p.Pro8727=) c.24621A>T (p.Pro8207=) c.24114A>T (p.Pro8038=) c.19581A>T (p.Pro6527=) c.26319A>T (p.Pro8773=) c.26268A>T (p.Pro8756=) c.26232A>T (p.Pro8744=) c.26079A>T (p.Pro8693=) | |
| 6 | g.152122631T>C | CA452969676 | ESR1,SYNE1 | c.2733A>G (p.Pro911=) c.26199A>G (p.Pro8733=) c.26055A>G (p.Pro8685=) c.1542A>G c.1917A>G c.1784A>G c.2049A>G (n.2049A>G) c.24984A>G (p.Pro8328=) n.2947A>G c.4975A>G (n.4975A>G) n.9891A>G c.4078A>G (n.4078A>G) n.9783A>G c.851-2635T>C (n.851-2635T>C) n.2813A>G n.6836A>G n.2977A>G c.2664A>G (p.Pro888=) c.26346A>G (p.Pro8782=) c.26334A>G (p.Pro8778=) c.26325A>G (p.Pro8775=) c.26304A>G (p.Pro8768=) c.26295A>G (p.Pro8765=) c.26289A>G (p.Pro8763=) c.26277A>G (p.Pro8759=) c.26274A>G (p.Pro8758=) c.26235A>G (p.Pro8745=) c.26220A>G (p.Pro8740=) c.26205A>G (p.Pro8735=) c.26193A>G (p.Pro8731=) c.26190A>G (p.Pro8730=) c.26187A>G (p.Pro8729=) c.*10A>G (n.*10A>G) c.26343A>G (p.Pro8781=) c.26331A>G (p.Pro8777=) c.26181A>G (p.Pro8727=) c.24621A>G (p.Pro8207=) c.24114A>G (p.Pro8038=) c.19581A>G (p.Pro6527=) c.26319A>G (p.Pro8773=) c.26268A>G (p.Pro8756=) c.26232A>G (p.Pro8744=) c.26079A>G (p.Pro8693=) | |
| 6 | g.152122631T>G | CA452969677 | ESR1,SYNE1 | c.2733A>C (p.Pro911=) c.26199A>C (p.Pro8733=) c.26055A>C (p.Pro8685=) c.1542A>C c.1917A>C c.1784A>C c.2049A>C (n.2049A>C) c.24984A>C (p.Pro8328=) n.2947A>C c.4975A>C (n.4975A>C) n.9891A>C c.4078A>C (n.4078A>C) n.9783A>C c.851-2635T>G (n.851-2635T>G) n.2813A>C n.6836A>C n.2977A>C c.2664A>C (p.Pro888=) c.26346A>C (p.Pro8782=) c.26334A>C (p.Pro8778=) c.26325A>C (p.Pro8775=) c.26304A>C (p.Pro8768=) c.26295A>C (p.Pro8765=) c.26289A>C (p.Pro8763=) c.26277A>C (p.Pro8759=) c.26274A>C (p.Pro8758=) c.26235A>C (p.Pro8745=) c.26220A>C (p.Pro8740=) c.26205A>C (p.Pro8735=) c.26193A>C (p.Pro8731=) c.26190A>C (p.Pro8730=) c.26187A>C (p.Pro8729=) c.*10A>C (n.*10A>C) c.26343A>C (p.Pro8781=) c.26331A>C (p.Pro8777=) c.26181A>C (p.Pro8727=) c.24621A>C (p.Pro8207=) c.24114A>C (p.Pro8038=) c.19581A>C (p.Pro6527=) c.26319A>C (p.Pro8773=) c.26268A>C (p.Pro8756=) c.26232A>C (p.Pro8744=) c.26079A>C (p.Pro8693=) | |
| 6 | g.152122632G>A | CA366089165 | ESR1,SYNE1 | c.2732C>T (p.Pro911Leu) c.26198C>T (p.Pro8733Leu) c.26054C>T (p.Pro8685Leu) c.1541C>T c.1916C>T c.1783C>T c.2048C>T (n.2048C>T) c.24983C>T (p.Pro8328Leu) n.2946C>T c.4974C>T (n.4974C>T) n.9890C>T c.4077C>T (n.4077C>T) n.9782C>T c.851-2634G>A (n.851-2634G>A) n.2812C>T n.6835C>T n.2976C>T c.2663C>T (p.Pro888Leu) c.26345C>T (p.Pro8782Leu) c.26333C>T (p.Pro8778Leu) c.26324C>T (p.Pro8775Leu) c.26303C>T (p.Pro8768Leu) c.26294C>T (p.Pro8765Leu) c.26288C>T (p.Pro8763Leu) c.26276C>T (p.Pro8759Leu) c.26273C>T (p.Pro8758Leu) c.26234C>T (p.Pro8745Leu) c.26219C>T (p.Pro8740Leu) c.26204C>T (p.Pro8735Leu) c.26192C>T (p.Pro8731Leu) c.26189C>T (p.Pro8730Leu) c.26186C>T (p.Pro8729Leu) c.*9C>T (n.*9C>T) c.26342C>T (p.Pro8781Leu) c.26330C>T (p.Pro8777Leu) c.26180C>T (p.Pro8727Leu) c.24620C>T (p.Pro8207Leu) c.24113C>T (p.Pro8038Leu) c.19580C>T (p.Pro6527Leu) c.26318C>T (p.Pro8773Leu) c.26267C>T (p.Pro8756Leu) c.26231C>T (p.Pro8744Leu) c.26078C>T (p.Pro8693Leu) | |
| 6 | g.152122632G>C | CA366089167 | ESR1,SYNE1 | c.2732C>G (p.Pro911Arg) c.26198C>G (p.Pro8733Arg) c.26054C>G (p.Pro8685Arg) c.1541C>G c.1916C>G c.1783C>G c.2048C>G (n.2048C>G) c.24983C>G (p.Pro8328Arg) n.2946C>G c.4974C>G (n.4974C>G) n.9890C>G c.4077C>G (n.4077C>G) n.9782C>G c.851-2634G>C (n.851-2634G>C) n.2812C>G n.6835C>G n.2976C>G c.2663C>G (p.Pro888Arg) c.26345C>G (p.Pro8782Arg) c.26333C>G (p.Pro8778Arg) c.26324C>G (p.Pro8775Arg) c.26303C>G (p.Pro8768Arg) c.26294C>G (p.Pro8765Arg) c.26288C>G (p.Pro8763Arg) c.26276C>G (p.Pro8759Arg) c.26273C>G (p.Pro8758Arg) c.26234C>G (p.Pro8745Arg) c.26219C>G (p.Pro8740Arg) c.26204C>G (p.Pro8735Arg) c.26192C>G (p.Pro8731Arg) c.26189C>G (p.Pro8730Arg) c.26186C>G (p.Pro8729Arg) c.*9C>G (n.*9C>G) c.26342C>G (p.Pro8781Arg) c.26330C>G (p.Pro8777Arg) c.26180C>G (p.Pro8727Arg) c.24620C>G (p.Pro8207Arg) c.24113C>G (p.Pro8038Arg) c.19580C>G (p.Pro6527Arg) c.26318C>G (p.Pro8773Arg) c.26267C>G (p.Pro8756Arg) c.26231C>G (p.Pro8744Arg) c.26078C>G (p.Pro8693Arg) | gnomAD v4 |
| 6 | g.152122632G>T | CA366089169 | ESR1,SYNE1 | c.2732C>A (p.Pro911Gln) c.26198C>A (p.Pro8733Gln) c.26054C>A (p.Pro8685Gln) c.1541C>A c.1916C>A c.1783C>A c.2048C>A (n.2048C>A) c.24983C>A (p.Pro8328Gln) n.2946C>A c.4974C>A (n.4974C>A) n.9890C>A c.4077C>A (n.4077C>A) n.9782C>A c.851-2634G>T (n.851-2634G>T) n.2812C>A n.6835C>A n.2976C>A c.2663C>A (p.Pro888Gln) c.26345C>A (p.Pro8782Gln) c.26333C>A (p.Pro8778Gln) c.26324C>A (p.Pro8775Gln) c.26303C>A (p.Pro8768Gln) c.26294C>A (p.Pro8765Gln) c.26288C>A (p.Pro8763Gln) c.26276C>A (p.Pro8759Gln) c.26273C>A (p.Pro8758Gln) c.26234C>A (p.Pro8745Gln) c.26219C>A (p.Pro8740Gln) c.26204C>A (p.Pro8735Gln) c.26192C>A (p.Pro8731Gln) c.26189C>A (p.Pro8730Gln) c.26186C>A (p.Pro8729Gln) c.*9C>A (n.*9C>A) c.26342C>A (p.Pro8781Gln) c.26330C>A (p.Pro8777Gln) c.26180C>A (p.Pro8727Gln) c.24620C>A (p.Pro8207Gln) c.24113C>A (p.Pro8038Gln) c.19580C>A (p.Pro6527Gln) c.26318C>A (p.Pro8773Gln) c.26267C>A (p.Pro8756Gln) c.26231C>A (p.Pro8744Gln) c.26078C>A (p.Pro8693Gln) | |
| 6 | g.152122633G>A | CA366089171 | ESR1,SYNE1 | c.2731C>T (p.Pro911Ser) c.26197C>T (p.Pro8733Ser) c.26053C>T (p.Pro8685Ser) c.1540C>T c.1915C>T c.1782C>T c.2047C>T (n.2047C>T) c.24982C>T (p.Pro8328Ser) n.2945C>T c.4973C>T (n.4973C>T) n.9889C>T c.4076C>T (n.4076C>T) n.9781C>T c.851-2633G>A (n.851-2633G>A) n.2811C>T n.6834C>T n.2975C>T c.2662C>T (p.Pro888Ser) c.26344C>T (p.Pro8782Ser) c.26332C>T (p.Pro8778Ser) c.26323C>T (p.Pro8775Ser) c.26302C>T (p.Pro8768Ser) c.26293C>T (p.Pro8765Ser) c.26287C>T (p.Pro8763Ser) c.26275C>T (p.Pro8759Ser) c.26272C>T (p.Pro8758Ser) c.26233C>T (p.Pro8745Ser) c.26218C>T (p.Pro8740Ser) c.26203C>T (p.Pro8735Ser) c.26191C>T (p.Pro8731Ser) c.26188C>T (p.Pro8730Ser) c.26185C>T (p.Pro8729Ser) c.*8C>T (n.*8C>T) c.26341C>T (p.Pro8781Ser) c.26329C>T (p.Pro8777Ser) c.26179C>T (p.Pro8727Ser) c.24619C>T (p.Pro8207Ser) c.24112C>T (p.Pro8038Ser) c.19579C>T (p.Pro6527Ser) c.26317C>T (p.Pro8773Ser) c.26266C>T (p.Pro8756Ser) c.26230C>T (p.Pro8744Ser) c.26077C>T (p.Pro8693Ser) | dbSNP gnomAD v4 |
| 6 | g.152122633G>C | CA366089172 | ESR1,SYNE1 | c.2731C>G (p.Pro911Ala) c.26197C>G (p.Pro8733Ala) c.26053C>G (p.Pro8685Ala) c.1540C>G c.1915C>G c.1782C>G c.2047C>G (n.2047C>G) c.24982C>G (p.Pro8328Ala) n.2945C>G c.4973C>G (n.4973C>G) n.9889C>G c.4076C>G (n.4076C>G) n.9781C>G c.851-2633G>C (n.851-2633G>C) n.2811C>G n.6834C>G n.2975C>G c.2662C>G (p.Pro888Ala) c.26344C>G (p.Pro8782Ala) c.26332C>G (p.Pro8778Ala) c.26323C>G (p.Pro8775Ala) c.26302C>G (p.Pro8768Ala) c.26293C>G (p.Pro8765Ala) c.26287C>G (p.Pro8763Ala) c.26275C>G (p.Pro8759Ala) c.26272C>G (p.Pro8758Ala) c.26233C>G (p.Pro8745Ala) c.26218C>G (p.Pro8740Ala) c.26203C>G (p.Pro8735Ala) c.26191C>G (p.Pro8731Ala) c.26188C>G (p.Pro8730Ala) c.26185C>G (p.Pro8729Ala) c.*8C>G (n.*8C>G) c.26341C>G (p.Pro8781Ala) c.26329C>G (p.Pro8777Ala) c.26179C>G (p.Pro8727Ala) c.24619C>G (p.Pro8207Ala) c.24112C>G (p.Pro8038Ala) c.19579C>G (p.Pro6527Ala) c.26317C>G (p.Pro8773Ala) c.26266C>G (p.Pro8756Ala) c.26230C>G (p.Pro8744Ala) c.26077C>G (p.Pro8693Ala) | |
| 6 | g.152122633G= | CA1673189203 | ESR1,SYNE1 | c.2731C= (p.Pro911=) c.26197C= (p.Pro8733=) c.26053C= (p.Pro8685=) c.1540C= c.1915C= c.1782C= c.2047C= (n.2047C=) c.24982C= (p.Pro8328=) n.2945C= c.4973C= (n.4973C=) n.9889C= c.4076C= (n.4076C=) n.9781C= c.851-2633G= (n.851-2633G=) n.2811C= n.6834C= n.2975C= c.2662C= (p.Pro888=) c.26344C= (p.Pro8782=) c.26332C= (p.Pro8778=) c.26323C= (p.Pro8775=) c.26302C= (p.Pro8768=) c.26293C= (p.Pro8765=) c.26287C= (p.Pro8763=) c.26275C= (p.Pro8759=) c.26272C= (p.Pro8758=) c.26233C= (p.Pro8745=) c.26218C= (p.Pro8740=) c.26203C= (p.Pro8735=) c.26191C= (p.Pro8731=) c.26188C= (p.Pro8730=) c.26185C= (p.Pro8729=) c.*8C= (n.*8C=) c.26341C= (p.Pro8781=) c.26329C= (p.Pro8777=) c.26179C= (p.Pro8727=) c.24619C= (p.Pro8207=) c.24112C= (p.Pro8038=) c.19579C= (p.Pro6527=) c.26317C= (p.Pro8773=) c.26266C= (p.Pro8756=) c.26230C= (p.Pro8744=) c.26077C= (p.Pro8693=) |