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.152122611A>C | CA366089092 | ESR1,SYNE1 | c.2753T>G (p.Phe918Cys) c.26219T>G (p.Phe8740Cys) c.26075T>G (p.Phe8692Cys) c.1562T>G c.1937T>G c.1804T>G c.2069T>G (n.2069T>G) c.25004T>G (p.Phe8335Cys) n.2967T>G c.4995T>G (n.4995T>G) n.9911T>G c.4098T>G (n.4098T>G) n.9803T>G c.851-2655A>C (n.851-2655A>C) n.2833T>G n.6856T>G n.2997T>G c.2684T>G (p.Phe895Cys) c.26366T>G (p.Phe8789Cys) c.26354T>G (p.Phe8785Cys) c.26345T>G (p.Phe8782Cys) c.26324T>G (p.Phe8775Cys) c.26315T>G (p.Phe8772Cys) c.26309T>G (p.Phe8770Cys) c.26297T>G (p.Phe8766Cys) c.26294T>G (p.Phe8765Cys) c.26255T>G (p.Phe8752Cys) c.26240T>G (p.Phe8747Cys) c.26225T>G (p.Phe8742Cys) c.26213T>G (p.Phe8738Cys) c.26210T>G (p.Phe8737Cys) c.26207T>G (p.Phe8736Cys) c.*30T>G (n.*30T>G) c.26363T>G (p.Phe8788Cys) c.26351T>G (p.Phe8784Cys) c.26201T>G (p.Phe8734Cys) c.24641T>G (p.Phe8214Cys) c.24134T>G (p.Phe8045Cys) c.19601T>G (p.Phe6534Cys) c.26339T>G (p.Phe8780Cys) c.26288T>G (p.Phe8763Cys) c.26252T>G (p.Phe8751Cys) c.26099T>G (p.Phe8700Cys) | |
| 6 | g.152122611A>G | CA366089094 | ESR1,SYNE1 | c.2753T>C (p.Phe918Ser) c.26219T>C (p.Phe8740Ser) c.26075T>C (p.Phe8692Ser) c.1562T>C c.1937T>C c.1804T>C c.2069T>C (n.2069T>C) c.25004T>C (p.Phe8335Ser) n.2967T>C c.4995T>C (n.4995T>C) n.9911T>C c.4098T>C (n.4098T>C) n.9803T>C c.851-2655A>G (n.851-2655A>G) n.2833T>C n.6856T>C n.2997T>C c.2684T>C (p.Phe895Ser) c.26366T>C (p.Phe8789Ser) c.26354T>C (p.Phe8785Ser) c.26345T>C (p.Phe8782Ser) c.26324T>C (p.Phe8775Ser) c.26315T>C (p.Phe8772Ser) c.26309T>C (p.Phe8770Ser) c.26297T>C (p.Phe8766Ser) c.26294T>C (p.Phe8765Ser) c.26255T>C (p.Phe8752Ser) c.26240T>C (p.Phe8747Ser) c.26225T>C (p.Phe8742Ser) c.26213T>C (p.Phe8738Ser) c.26210T>C (p.Phe8737Ser) c.26207T>C (p.Phe8736Ser) c.*30T>C (n.*30T>C) c.26363T>C (p.Phe8788Ser) c.26351T>C (p.Phe8784Ser) c.26201T>C (p.Phe8734Ser) c.24641T>C (p.Phe8214Ser) c.24134T>C (p.Phe8045Ser) c.19601T>C (p.Phe6534Ser) c.26339T>C (p.Phe8780Ser) c.26288T>C (p.Phe8763Ser) c.26252T>C (p.Phe8751Ser) c.26099T>C (p.Phe8700Ser) | |
| 6 | g.152122611A>T | CA366089091 | ESR1,SYNE1 | c.2753T>A (p.Phe918Tyr) c.26219T>A (p.Phe8740Tyr) c.26075T>A (p.Phe8692Tyr) c.1562T>A c.1937T>A c.1804T>A c.2069T>A (n.2069T>A) c.25004T>A (p.Phe8335Tyr) n.2967T>A c.4995T>A (n.4995T>A) n.9911T>A c.4098T>A (n.4098T>A) n.9803T>A c.851-2655A>T (n.851-2655A>T) n.2833T>A n.6856T>A n.2997T>A c.2684T>A (p.Phe895Tyr) c.26366T>A (p.Phe8789Tyr) c.26354T>A (p.Phe8785Tyr) c.26345T>A (p.Phe8782Tyr) c.26324T>A (p.Phe8775Tyr) c.26315T>A (p.Phe8772Tyr) c.26309T>A (p.Phe8770Tyr) c.26297T>A (p.Phe8766Tyr) c.26294T>A (p.Phe8765Tyr) c.26255T>A (p.Phe8752Tyr) c.26240T>A (p.Phe8747Tyr) c.26225T>A (p.Phe8742Tyr) c.26213T>A (p.Phe8738Tyr) c.26210T>A (p.Phe8737Tyr) c.26207T>A (p.Phe8736Tyr) c.*30T>A (n.*30T>A) c.26363T>A (p.Phe8788Tyr) c.26351T>A (p.Phe8784Tyr) c.26201T>A (p.Phe8734Tyr) c.24641T>A (p.Phe8214Tyr) c.24134T>A (p.Phe8045Tyr) c.19601T>A (p.Phe6534Tyr) c.26339T>A (p.Phe8780Tyr) c.26288T>A (p.Phe8763Tyr) c.26252T>A (p.Phe8751Tyr) c.26099T>A (p.Phe8700Tyr) | |
| 6 | g.152122612A>C | CA366089098 | ESR1,SYNE1 | c.2752T>G (p.Phe918Val) c.26218T>G (p.Phe8740Val) c.26074T>G (p.Phe8692Val) c.1561T>G c.1936T>G c.1803T>G c.2068T>G (n.2068T>G) c.25003T>G (p.Phe8335Val) n.2966T>G c.4994T>G (n.4994T>G) n.9910T>G c.4097T>G (n.4097T>G) n.9802T>G c.851-2654A>C (n.851-2654A>C) n.2832T>G n.6855T>G n.2996T>G c.2683T>G (p.Phe895Val) c.26365T>G (p.Phe8789Val) c.26353T>G (p.Phe8785Val) c.26344T>G (p.Phe8782Val) c.26323T>G (p.Phe8775Val) c.26314T>G (p.Phe8772Val) c.26308T>G (p.Phe8770Val) c.26296T>G (p.Phe8766Val) c.26293T>G (p.Phe8765Val) c.26254T>G (p.Phe8752Val) c.26239T>G (p.Phe8747Val) c.26224T>G (p.Phe8742Val) c.26212T>G (p.Phe8738Val) c.26209T>G (p.Phe8737Val) c.26206T>G (p.Phe8736Val) c.*29T>G (n.*29T>G) c.26362T>G (p.Phe8788Val) c.26350T>G (p.Phe8784Val) c.26200T>G (p.Phe8734Val) c.24640T>G (p.Phe8214Val) c.24133T>G (p.Phe8045Val) c.19600T>G (p.Phe6534Val) c.26338T>G (p.Phe8780Val) c.26287T>G (p.Phe8763Val) c.26251T>G (p.Phe8751Val) c.26098T>G (p.Phe8700Val) | |
| 6 | g.152122612A>G | CA366089096 | ESR1,SYNE1 | c.2752T>C (p.Phe918Leu) c.26218T>C (p.Phe8740Leu) c.26074T>C (p.Phe8692Leu) c.1561T>C c.1936T>C c.1803T>C c.2068T>C (n.2068T>C) c.25003T>C (p.Phe8335Leu) n.2966T>C c.4994T>C (n.4994T>C) n.9910T>C c.4097T>C (n.4097T>C) n.9802T>C c.851-2654A>G (n.851-2654A>G) n.2832T>C n.6855T>C n.2996T>C c.2683T>C (p.Phe895Leu) c.26365T>C (p.Phe8789Leu) c.26353T>C (p.Phe8785Leu) c.26344T>C (p.Phe8782Leu) c.26323T>C (p.Phe8775Leu) c.26314T>C (p.Phe8772Leu) c.26308T>C (p.Phe8770Leu) c.26296T>C (p.Phe8766Leu) c.26293T>C (p.Phe8765Leu) c.26254T>C (p.Phe8752Leu) c.26239T>C (p.Phe8747Leu) c.26224T>C (p.Phe8742Leu) c.26212T>C (p.Phe8738Leu) c.26209T>C (p.Phe8737Leu) c.26206T>C (p.Phe8736Leu) c.*29T>C (n.*29T>C) c.26362T>C (p.Phe8788Leu) c.26350T>C (p.Phe8784Leu) c.26200T>C (p.Phe8734Leu) c.24640T>C (p.Phe8214Leu) c.24133T>C (p.Phe8045Leu) c.19600T>C (p.Phe6534Leu) c.26338T>C (p.Phe8780Leu) c.26287T>C (p.Phe8763Leu) c.26251T>C (p.Phe8751Leu) c.26098T>C (p.Phe8700Leu) | |
| 6 | g.152122612A>T | CA366089099 | ESR1,SYNE1 | c.2752T>A (p.Phe918Ile) c.26218T>A (p.Phe8740Ile) c.26074T>A (p.Phe8692Ile) c.1561T>A c.1936T>A c.1803T>A c.2068T>A (n.2068T>A) c.25003T>A (p.Phe8335Ile) n.2966T>A c.4994T>A (n.4994T>A) n.9910T>A c.4097T>A (n.4097T>A) n.9802T>A c.851-2654A>T (n.851-2654A>T) n.2832T>A n.6855T>A n.2996T>A c.2683T>A (p.Phe895Ile) c.26365T>A (p.Phe8789Ile) c.26353T>A (p.Phe8785Ile) c.26344T>A (p.Phe8782Ile) c.26323T>A (p.Phe8775Ile) c.26314T>A (p.Phe8772Ile) c.26308T>A (p.Phe8770Ile) c.26296T>A (p.Phe8766Ile) c.26293T>A (p.Phe8765Ile) c.26254T>A (p.Phe8752Ile) c.26239T>A (p.Phe8747Ile) c.26224T>A (p.Phe8742Ile) c.26212T>A (p.Phe8738Ile) c.26209T>A (p.Phe8737Ile) c.26206T>A (p.Phe8736Ile) c.*29T>A (n.*29T>A) c.26362T>A (p.Phe8788Ile) c.26350T>A (p.Phe8784Ile) c.26200T>A (p.Phe8734Ile) c.24640T>A (p.Phe8214Ile) c.24133T>A (p.Phe8045Ile) c.19600T>A (p.Phe6534Ile) c.26338T>A (p.Phe8780Ile) c.26287T>A (p.Phe8763Ile) c.26251T>A (p.Phe8751Ile) c.26098T>A (p.Phe8700Ile) | |
| 6 | g.152122613G>A | CA452969641 | ESR1,SYNE1 | c.2751C>T (p.Gly917=) c.26217C>T (p.Gly8739=) c.26073C>T (p.Gly8691=) c.1560C>T c.1935C>T c.1802C>T c.2067C>T (n.2067C>T) c.25002C>T (p.Gly8334=) n.2965C>T c.4993C>T (n.4993C>T) n.9909C>T c.4096C>T (n.4096C>T) n.9801C>T c.851-2653G>A (n.851-2653G>A) n.2831C>T n.6854C>T n.2995C>T c.2682C>T (p.Gly894=) c.26364C>T (p.Gly8788=) c.26352C>T (p.Gly8784=) c.26343C>T (p.Gly8781=) c.26322C>T (p.Gly8774=) c.26313C>T (p.Gly8771=) c.26307C>T (p.Gly8769=) c.26295C>T (p.Gly8765=) c.26292C>T (p.Gly8764=) c.26253C>T (p.Gly8751=) c.26238C>T (p.Gly8746=) c.26223C>T (p.Gly8741=) c.26211C>T (p.Gly8737=) c.26208C>T (p.Gly8736=) c.26205C>T (p.Gly8735=) c.*28C>T (n.*28C>T) c.26361C>T (p.Gly8787=) c.26349C>T (p.Gly8783=) c.26199C>T (p.Gly8733=) c.24639C>T (p.Gly8213=) c.24132C>T (p.Gly8044=) c.19599C>T (p.Gly6533=) c.26337C>T (p.Gly8779=) c.26286C>T (p.Gly8762=) c.26250C>T (p.Gly8750=) c.26097C>T (p.Gly8699=) | |
| 6 | g.152122613G>C | CA452969642 | ESR1,SYNE1 | c.2751C>G (p.Gly917=) c.26217C>G (p.Gly8739=) c.26073C>G (p.Gly8691=) c.1560C>G c.1935C>G c.1802C>G c.2067C>G (n.2067C>G) c.25002C>G (p.Gly8334=) n.2965C>G c.4993C>G (n.4993C>G) n.9909C>G c.4096C>G (n.4096C>G) n.9801C>G c.851-2653G>C (n.851-2653G>C) n.2831C>G n.6854C>G n.2995C>G c.2682C>G (p.Gly894=) c.26364C>G (p.Gly8788=) c.26352C>G (p.Gly8784=) c.26343C>G (p.Gly8781=) c.26322C>G (p.Gly8774=) c.26313C>G (p.Gly8771=) c.26307C>G (p.Gly8769=) c.26295C>G (p.Gly8765=) c.26292C>G (p.Gly8764=) c.26253C>G (p.Gly8751=) c.26238C>G (p.Gly8746=) c.26223C>G (p.Gly8741=) c.26211C>G (p.Gly8737=) c.26208C>G (p.Gly8736=) c.26205C>G (p.Gly8735=) c.*28C>G (n.*28C>G) c.26361C>G (p.Gly8787=) c.26349C>G (p.Gly8783=) c.26199C>G (p.Gly8733=) c.24639C>G (p.Gly8213=) c.24132C>G (p.Gly8044=) c.19599C>G (p.Gly6533=) c.26337C>G (p.Gly8779=) c.26286C>G (p.Gly8762=) c.26250C>G (p.Gly8750=) c.26097C>G (p.Gly8699=) | |
| 6 | g.152122613G>T | CA452969643 | ESR1,SYNE1 | c.2751C>A (p.Gly917=) c.26217C>A (p.Gly8739=) c.26073C>A (p.Gly8691=) c.1560C>A c.1935C>A c.1802C>A c.2067C>A (n.2067C>A) c.25002C>A (p.Gly8334=) n.2965C>A c.4993C>A (n.4993C>A) n.9909C>A c.4096C>A (n.4096C>A) n.9801C>A c.851-2653G>T (n.851-2653G>T) n.2831C>A n.6854C>A n.2995C>A c.2682C>A (p.Gly894=) c.26364C>A (p.Gly8788=) c.26352C>A (p.Gly8784=) c.26343C>A (p.Gly8781=) c.26322C>A (p.Gly8774=) c.26313C>A (p.Gly8771=) c.26307C>A (p.Gly8769=) c.26295C>A (p.Gly8765=) c.26292C>A (p.Gly8764=) c.26253C>A (p.Gly8751=) c.26238C>A (p.Gly8746=) c.26223C>A (p.Gly8741=) c.26211C>A (p.Gly8737=) c.26208C>A (p.Gly8736=) c.26205C>A (p.Gly8735=) c.*28C>A (n.*28C>A) c.26361C>A (p.Gly8787=) c.26349C>A (p.Gly8783=) c.26199C>A (p.Gly8733=) c.24639C>A (p.Gly8213=) c.24132C>A (p.Gly8044=) c.19599C>A (p.Gly6533=) c.26337C>A (p.Gly8779=) c.26286C>A (p.Gly8762=) c.26250C>A (p.Gly8750=) c.26097C>A (p.Gly8699=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122614C>A | CA366089101 | ESR1,SYNE1 | c.2750G>T (p.Gly917Val) c.26216G>T (p.Gly8739Val) c.26072G>T (p.Gly8691Val) c.1559G>T c.1934G>T c.1801G>T c.2066G>T (n.2066G>T) c.25001G>T (p.Gly8334Val) n.2964G>T c.4992G>T (n.4992G>T) n.9908G>T c.4095G>T (n.4095G>T) n.9800G>T c.851-2652C>A (n.851-2652C>A) n.2830G>T n.6853G>T n.2994G>T c.2681G>T (p.Gly894Val) c.26363G>T (p.Gly8788Val) c.26351G>T (p.Gly8784Val) c.26342G>T (p.Gly8781Val) c.26321G>T (p.Gly8774Val) c.26312G>T (p.Gly8771Val) c.26306G>T (p.Gly8769Val) c.26294G>T (p.Gly8765Val) c.26291G>T (p.Gly8764Val) c.26252G>T (p.Gly8751Val) c.26237G>T (p.Gly8746Val) c.26222G>T (p.Gly8741Val) c.26210G>T (p.Gly8737Val) c.26207G>T (p.Gly8736Val) c.26204G>T (p.Gly8735Val) c.*27G>T (n.*27G>T) c.26360G>T (p.Gly8787Val) c.26348G>T (p.Gly8783Val) c.26198G>T (p.Gly8733Val) c.24638G>T (p.Gly8213Val) c.24131G>T (p.Gly8044Val) c.19598G>T (p.Gly6533Val) c.26336G>T (p.Gly8779Val) c.26285G>T (p.Gly8762Val) c.26249G>T (p.Gly8750Val) c.26096G>T (p.Gly8699Val) | |
| 6 | g.152122614C>G | CA366089103 | ESR1,SYNE1 | c.2750G>C (p.Gly917Ala) c.26216G>C (p.Gly8739Ala) c.26072G>C (p.Gly8691Ala) c.1559G>C c.1934G>C c.1801G>C c.2066G>C (n.2066G>C) c.25001G>C (p.Gly8334Ala) n.2964G>C c.4992G>C (n.4992G>C) n.9908G>C c.4095G>C (n.4095G>C) n.9800G>C c.851-2652C>G (n.851-2652C>G) n.2830G>C n.6853G>C n.2994G>C c.2681G>C (p.Gly894Ala) c.26363G>C (p.Gly8788Ala) c.26351G>C (p.Gly8784Ala) c.26342G>C (p.Gly8781Ala) c.26321G>C (p.Gly8774Ala) c.26312G>C (p.Gly8771Ala) c.26306G>C (p.Gly8769Ala) c.26294G>C (p.Gly8765Ala) c.26291G>C (p.Gly8764Ala) c.26252G>C (p.Gly8751Ala) c.26237G>C (p.Gly8746Ala) c.26222G>C (p.Gly8741Ala) c.26210G>C (p.Gly8737Ala) c.26207G>C (p.Gly8736Ala) c.26204G>C (p.Gly8735Ala) c.*27G>C (n.*27G>C) c.26360G>C (p.Gly8787Ala) c.26348G>C (p.Gly8783Ala) c.26198G>C (p.Gly8733Ala) c.24638G>C (p.Gly8213Ala) c.24131G>C (p.Gly8044Ala) c.19598G>C (p.Gly6533Ala) c.26336G>C (p.Gly8779Ala) c.26285G>C (p.Gly8762Ala) c.26249G>C (p.Gly8750Ala) c.26096G>C (p.Gly8699Ala) | |
| 6 | g.152122614C>T | CA366089105 | ESR1,SYNE1 | c.2750G>A (p.Gly917Asp) c.26216G>A (p.Gly8739Asp) c.26072G>A (p.Gly8691Asp) c.1559G>A c.1934G>A c.1801G>A c.2066G>A (n.2066G>A) c.25001G>A (p.Gly8334Asp) n.2964G>A c.4992G>A (n.4992G>A) n.9908G>A c.4095G>A (n.4095G>A) n.9800G>A c.851-2652C>T (n.851-2652C>T) n.2830G>A n.6853G>A n.2994G>A c.2681G>A (p.Gly894Asp) c.26363G>A (p.Gly8788Asp) c.26351G>A (p.Gly8784Asp) c.26342G>A (p.Gly8781Asp) c.26321G>A (p.Gly8774Asp) c.26312G>A (p.Gly8771Asp) c.26306G>A (p.Gly8769Asp) c.26294G>A (p.Gly8765Asp) c.26291G>A (p.Gly8764Asp) c.26252G>A (p.Gly8751Asp) c.26237G>A (p.Gly8746Asp) c.26222G>A (p.Gly8741Asp) c.26210G>A (p.Gly8737Asp) c.26207G>A (p.Gly8736Asp) c.26204G>A (p.Gly8735Asp) c.*27G>A (n.*27G>A) c.26360G>A (p.Gly8787Asp) c.26348G>A (p.Gly8783Asp) c.26198G>A (p.Gly8733Asp) c.24638G>A (p.Gly8213Asp) c.24131G>A (p.Gly8044Asp) c.19598G>A (p.Gly6533Asp) c.26336G>A (p.Gly8779Asp) c.26285G>A (p.Gly8762Asp) c.26249G>A (p.Gly8750Asp) c.26096G>A (p.Gly8699Asp) | |
| 6 | g.152122615C>A | CA366089106 | ESR1,SYNE1 | c.2749G>T (p.Gly917Cys) c.26215G>T (p.Gly8739Cys) c.26071G>T (p.Gly8691Cys) c.1558G>T c.1933G>T c.1800G>T c.2065G>T (n.2065G>T) c.25000G>T (p.Gly8334Cys) n.2963G>T c.4991G>T (n.4991G>T) n.9907G>T c.4094G>T (n.4094G>T) n.9799G>T c.851-2651C>A (n.851-2651C>A) n.2829G>T n.6852G>T n.2993G>T c.2680G>T (p.Gly894Cys) c.26362G>T (p.Gly8788Cys) c.26350G>T (p.Gly8784Cys) c.26341G>T (p.Gly8781Cys) c.26320G>T (p.Gly8774Cys) c.26311G>T (p.Gly8771Cys) c.26305G>T (p.Gly8769Cys) c.26293G>T (p.Gly8765Cys) c.26290G>T (p.Gly8764Cys) c.26251G>T (p.Gly8751Cys) c.26236G>T (p.Gly8746Cys) c.26221G>T (p.Gly8741Cys) c.26209G>T (p.Gly8737Cys) c.26206G>T (p.Gly8736Cys) c.26203G>T (p.Gly8735Cys) c.*26G>T (n.*26G>T) c.26359G>T (p.Gly8787Cys) c.26347G>T (p.Gly8783Cys) c.26197G>T (p.Gly8733Cys) c.24637G>T (p.Gly8213Cys) c.24130G>T (p.Gly8044Cys) c.19597G>T (p.Gly6533Cys) c.26335G>T (p.Gly8779Cys) c.26284G>T (p.Gly8762Cys) c.26248G>T (p.Gly8750Cys) c.26095G>T (p.Gly8699Cys) | gnomAD v4 |
| 6 | g.152122615C= | CA1673189076 | ESR1,SYNE1 | c.2749G= (p.Gly917=) c.26215G= (p.Gly8739=) c.26071G= (p.Gly8691=) c.1558G= c.1933G= c.1800G= c.2065G= (n.2065G=) c.25000G= (p.Gly8334=) n.2963G= c.4991G= (n.4991G=) n.9907G= c.4094G= (n.4094G=) n.9799G= c.851-2651C= (n.851-2651C=) n.2829G= n.6852G= n.2993G= c.2680G= (p.Gly894=) c.26362G= (p.Gly8788=) c.26350G= (p.Gly8784=) c.26341G= (p.Gly8781=) c.26320G= (p.Gly8774=) c.26311G= (p.Gly8771=) c.26305G= (p.Gly8769=) c.26293G= (p.Gly8765=) c.26290G= (p.Gly8764=) c.26251G= (p.Gly8751=) c.26236G= (p.Gly8746=) c.26221G= (p.Gly8741=) c.26209G= (p.Gly8737=) c.26206G= (p.Gly8736=) c.26203G= (p.Gly8735=) c.*26G= (n.*26G=) c.26359G= (p.Gly8787=) c.26347G= (p.Gly8783=) c.26197G= (p.Gly8733=) c.24637G= (p.Gly8213=) c.24130G= (p.Gly8044=) c.19597G= (p.Gly6533=) c.26335G= (p.Gly8779=) c.26284G= (p.Gly8762=) c.26248G= (p.Gly8750=) c.26095G= (p.Gly8699=) | |
| 6 | g.152122615C>G | CA366089108 | ESR1,SYNE1 | c.2749G>C (p.Gly917Arg) c.26215G>C (p.Gly8739Arg) c.26071G>C (p.Gly8691Arg) c.1558G>C c.1933G>C c.1800G>C c.2065G>C (n.2065G>C) c.25000G>C (p.Gly8334Arg) n.2963G>C c.4991G>C (n.4991G>C) n.9907G>C c.4094G>C (n.4094G>C) n.9799G>C c.851-2651C>G (n.851-2651C>G) n.2829G>C n.6852G>C n.2993G>C c.2680G>C (p.Gly894Arg) c.26362G>C (p.Gly8788Arg) c.26350G>C (p.Gly8784Arg) c.26341G>C (p.Gly8781Arg) c.26320G>C (p.Gly8774Arg) c.26311G>C (p.Gly8771Arg) c.26305G>C (p.Gly8769Arg) c.26293G>C (p.Gly8765Arg) c.26290G>C (p.Gly8764Arg) c.26251G>C (p.Gly8751Arg) c.26236G>C (p.Gly8746Arg) c.26221G>C (p.Gly8741Arg) c.26209G>C (p.Gly8737Arg) c.26206G>C (p.Gly8736Arg) c.26203G>C (p.Gly8735Arg) c.*26G>C (n.*26G>C) c.26359G>C (p.Gly8787Arg) c.26347G>C (p.Gly8783Arg) c.26197G>C (p.Gly8733Arg) c.24637G>C (p.Gly8213Arg) c.24130G>C (p.Gly8044Arg) c.19597G>C (p.Gly6533Arg) c.26335G>C (p.Gly8779Arg) c.26284G>C (p.Gly8762Arg) c.26248G>C (p.Gly8750Arg) c.26095G>C (p.Gly8699Arg) | gnomAD v4 |
| 6 | g.152122615C>T | CA4052601 | ESR1,SYNE1 | c.2749G>A (p.Gly917Ser) c.26215G>A (p.Gly8739Ser) c.26071G>A (p.Gly8691Ser) c.1558G>A c.1933G>A c.1800G>A c.2065G>A (n.2065G>A) c.25000G>A (p.Gly8334Ser) n.2963G>A c.4991G>A (n.4991G>A) n.9907G>A c.4094G>A (n.4094G>A) n.9799G>A c.851-2651C>T (n.851-2651C>T) n.2829G>A n.6852G>A n.2993G>A c.2680G>A (p.Gly894Ser) c.26362G>A (p.Gly8788Ser) c.26350G>A (p.Gly8784Ser) c.26341G>A (p.Gly8781Ser) c.26320G>A (p.Gly8774Ser) c.26311G>A (p.Gly8771Ser) c.26305G>A (p.Gly8769Ser) c.26293G>A (p.Gly8765Ser) c.26290G>A (p.Gly8764Ser) c.26251G>A (p.Gly8751Ser) c.26236G>A (p.Gly8746Ser) c.26221G>A (p.Gly8741Ser) c.26209G>A (p.Gly8737Ser) c.26206G>A (p.Gly8736Ser) c.26203G>A (p.Gly8735Ser) c.*26G>A (n.*26G>A) c.26359G>A (p.Gly8787Ser) c.26347G>A (p.Gly8783Ser) c.26197G>A (p.Gly8733Ser) c.24637G>A (p.Gly8213Ser) c.24130G>A (p.Gly8044Ser) c.19597G>A (p.Gly6533Ser) c.26335G>A (p.Gly8779Ser) c.26284G>A (p.Gly8762Ser) c.26248G>A (p.Gly8750Ser) c.26095G>A (p.Gly8699Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122616G>A | CA4052603 | ESR1,SYNE1 | c.2748C>T (p.Arg916=) c.26214C>T (p.Arg8738=) c.26070C>T (p.Arg8690=) c.1557C>T c.1932C>T c.1799C>T c.2064C>T (n.2064C>T) c.24999C>T (p.Arg8333=) n.2962C>T c.4990C>T (n.4990C>T) n.9906C>T c.4093C>T (n.4093C>T) n.9798C>T c.851-2650G>A (n.851-2650G>A) n.2828C>T n.6851C>T n.2992C>T c.2679C>T (p.Arg893=) c.26361C>T (p.Arg8787=) c.26349C>T (p.Arg8783=) c.26340C>T (p.Arg8780=) c.26319C>T (p.Arg8773=) c.26310C>T (p.Arg8770=) c.26304C>T (p.Arg8768=) c.26292C>T (p.Arg8764=) c.26289C>T (p.Arg8763=) c.26250C>T (p.Arg8750=) c.26235C>T (p.Arg8745=) c.26220C>T (p.Arg8740=) c.26208C>T (p.Arg8736=) c.26205C>T (p.Arg8735=) c.26202C>T (p.Arg8734=) c.*25C>T (n.*25C>T) c.26358C>T (p.Arg8786=) c.26346C>T (p.Arg8782=) c.26196C>T (p.Arg8732=) c.24636C>T (p.Arg8212=) c.24129C>T (p.Arg8043=) c.19596C>T (p.Arg6532=) c.26334C>T (p.Arg8778=) c.26283C>T (p.Arg8761=) c.26247C>T (p.Arg8749=) c.26094C>T (p.Arg8698=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122616G>C | CA452969650 | ESR1,SYNE1 | c.2748C>G (p.Arg916=) c.26214C>G (p.Arg8738=) c.26070C>G (p.Arg8690=) c.1557C>G c.1932C>G c.1799C>G c.2064C>G (n.2064C>G) c.24999C>G (p.Arg8333=) n.2962C>G c.4990C>G (n.4990C>G) n.9906C>G c.4093C>G (n.4093C>G) n.9798C>G c.851-2650G>C (n.851-2650G>C) n.2828C>G n.6851C>G n.2992C>G c.2679C>G (p.Arg893=) c.26361C>G (p.Arg8787=) c.26349C>G (p.Arg8783=) c.26340C>G (p.Arg8780=) c.26319C>G (p.Arg8773=) c.26310C>G (p.Arg8770=) c.26304C>G (p.Arg8768=) c.26292C>G (p.Arg8764=) c.26289C>G (p.Arg8763=) c.26250C>G (p.Arg8750=) c.26235C>G (p.Arg8745=) c.26220C>G (p.Arg8740=) c.26208C>G (p.Arg8736=) c.26205C>G (p.Arg8735=) c.26202C>G (p.Arg8734=) c.*25C>G (n.*25C>G) c.26358C>G (p.Arg8786=) c.26346C>G (p.Arg8782=) c.26196C>G (p.Arg8732=) c.24636C>G (p.Arg8212=) c.24129C>G (p.Arg8043=) c.19596C>G (p.Arg6532=) c.26334C>G (p.Arg8778=) c.26283C>G (p.Arg8761=) c.26247C>G (p.Arg8749=) c.26094C>G (p.Arg8698=) | |
| 6 | g.152122616G= | CA1673189084 | ESR1,SYNE1 | c.2748C= (p.Arg916=) c.26214C= (p.Arg8738=) c.26070C= (p.Arg8690=) c.1557C= c.1932C= c.1799C= c.2064C= (n.2064C=) c.24999C= (p.Arg8333=) n.2962C= c.4990C= (n.4990C=) n.9906C= c.4093C= (n.4093C=) n.9798C= c.851-2650G= (n.851-2650G=) n.2828C= n.6851C= n.2992C= c.2679C= (p.Arg893=) c.26361C= (p.Arg8787=) c.26349C= (p.Arg8783=) c.26340C= (p.Arg8780=) c.26319C= (p.Arg8773=) c.26310C= (p.Arg8770=) c.26304C= (p.Arg8768=) c.26292C= (p.Arg8764=) c.26289C= (p.Arg8763=) c.26250C= (p.Arg8750=) c.26235C= (p.Arg8745=) c.26220C= (p.Arg8740=) c.26208C= (p.Arg8736=) c.26205C= (p.Arg8735=) c.26202C= (p.Arg8734=) c.*25C= (n.*25C=) c.26358C= (p.Arg8786=) c.26346C= (p.Arg8782=) c.26196C= (p.Arg8732=) c.24636C= (p.Arg8212=) c.24129C= (p.Arg8043=) c.19596C= (p.Arg6532=) c.26334C= (p.Arg8778=) c.26283C= (p.Arg8761=) c.26247C= (p.Arg8749=) c.26094C= (p.Arg8698=) | |
| 6 | g.152122616G>T | CA452969649 | ESR1,SYNE1 | c.2748C>A (p.Arg916=) c.26214C>A (p.Arg8738=) c.26070C>A (p.Arg8690=) c.1557C>A c.1932C>A c.1799C>A c.2064C>A (n.2064C>A) c.24999C>A (p.Arg8333=) n.2962C>A c.4990C>A (n.4990C>A) n.9906C>A c.4093C>A (n.4093C>A) n.9798C>A c.851-2650G>T (n.851-2650G>T) n.2828C>A n.6851C>A n.2992C>A c.2679C>A (p.Arg893=) c.26361C>A (p.Arg8787=) c.26349C>A (p.Arg8783=) c.26340C>A (p.Arg8780=) c.26319C>A (p.Arg8773=) c.26310C>A (p.Arg8770=) c.26304C>A (p.Arg8768=) c.26292C>A (p.Arg8764=) c.26289C>A (p.Arg8763=) c.26250C>A (p.Arg8750=) c.26235C>A (p.Arg8745=) c.26220C>A (p.Arg8740=) c.26208C>A (p.Arg8736=) c.26205C>A (p.Arg8735=) c.26202C>A (p.Arg8734=) c.*25C>A (n.*25C>A) c.26358C>A (p.Arg8786=) c.26346C>A (p.Arg8782=) c.26196C>A (p.Arg8732=) c.24636C>A (p.Arg8212=) c.24129C>A (p.Arg8043=) c.19596C>A (p.Arg6532=) c.26334C>A (p.Arg8778=) c.26283C>A (p.Arg8761=) c.26247C>A (p.Arg8749=) c.26094C>A (p.Arg8698=) | |
| 6 | g.152122616_152122617delinsGC | CA1673189085 | ESR1,SYNE1 | c.2747_2748delinsGC (p.Arg916=) c.26213_26214delinsGC (p.Arg8738=) c.26069_26070delinsGC (p.Arg8690=) c.1556_1557delinsGC c.1931_1932delinsGC c.1798_1799delinsGC c.2063_2064delinsGC (n.2063_2064delinsGC) c.24998_24999delinsGC (p.Arg8333=) n.2961_2962delinsGC c.4989_4990delinsGC (n.4989_4990delinsGC) n.9905_9906delinsGC c.4092_4093delinsGC (n.4092_4093delinsGC) n.9797_9798delinsGC c.851-2650_851-2649delinsGC (n.851-2650_851-2649delinsGC) n.2827_2828delinsGC n.6850_6851delinsGC n.2991_2992delinsGC c.2678_2679delinsGC (p.Arg893=) c.26360_26361delinsGC (p.Arg8787=) c.26348_26349delinsGC (p.Arg8783=) c.26339_26340delinsGC (p.Arg8780=) c.26318_26319delinsGC (p.Arg8773=) c.26309_26310delinsGC (p.Arg8770=) c.26303_26304delinsGC (p.Arg8768=) c.26291_26292delinsGC (p.Arg8764=) c.26288_26289delinsGC (p.Arg8763=) c.26249_26250delinsGC (p.Arg8750=) c.26234_26235delinsGC (p.Arg8745=) c.26219_26220delinsGC (p.Arg8740=) c.26207_26208delinsGC (p.Arg8736=) c.26204_26205delinsGC (p.Arg8735=) c.26201_26202delinsGC (p.Arg8734=) c.*24_*25delinsGC (n.*24_*25delinsGC) c.26357_26358delinsGC (p.Arg8786=) c.26345_26346delinsGC (p.Arg8782=) c.26195_26196delinsGC (p.Arg8732=) c.24635_24636delinsGC (p.Arg8212=) c.24128_24129delinsGC (p.Arg8043=) c.19595_19596delinsGC (p.Arg6532=) c.26333_26334delinsGC (p.Arg8778=) c.26282_26283delinsGC (p.Arg8761=) c.26246_26247delinsGC (p.Arg8749=) c.26093_26094delinsGC (p.Arg8698=) | |
| 6 | g.152122617del | CA4052602 | ESR1,SYNE1 | c.2747del (p.Arg916ProfsTer?) c.26213del (p.Arg8738ProfsTer?) c.26069del (p.Arg8690ProfsTer?) c.1556del c.1931del c.1798del c.2063del (n.2063del) c.24998del (p.Arg8333ProfsTer?) n.2961del c.4989del (n.4989del) n.9905del c.4092del (n.4092del) n.9797del c.851-2649del (n.851-2649del) n.2827del n.6850del n.2991del c.2678del (p.Arg893ProfsTer?) c.26360del (p.Arg8787ProfsTer?) c.26348del (p.Arg8783ProfsTer?) c.26339del (p.Arg8780ProfsTer?) c.26318del (p.Arg8773ProfsTer?) c.26309del (p.Arg8770ProfsTer?) c.26303del (p.Arg8768ProfsTer?) c.26291del (p.Arg8764ProfsTer?) c.26288del (p.Arg8763ProfsTer?) c.26249del (p.Arg8750ProfsTer?) c.26234del (p.Arg8745ProfsTer?) c.26219del (p.Arg8740ProfsTer?) c.26207del (p.Arg8736ProfsTer?) c.26204del (p.Arg8735ProfsTer?) c.26201del (p.Arg8734ProfsTer?) c.*24del (n.*24del) c.26357del (p.Arg8786ProfsTer?) c.26345del (p.Arg8782ProfsTer?) c.26195del (p.Arg8732ProfsTer?) c.24635del (p.Arg8212ProfsTer?) c.24128del (p.Arg8043ProfsTer?) c.19595del (p.Arg6532ProfsTer?) c.26333del (p.Arg8778ProfsTer?) c.26282del (p.Arg8761ProfsTer?) c.26246del (p.Arg8749ProfsTer?) c.26093del (p.Arg8698ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152122617C>A | CA366089113 | ESR1,SYNE1 | c.2747G>T (p.Arg916Leu) c.26213G>T (p.Arg8738Leu) c.26069G>T (p.Arg8690Leu) c.1556G>T c.1931G>T c.1798G>T c.2063G>T (n.2063G>T) c.24998G>T (p.Arg8333Leu) n.2961G>T c.4989G>T (n.4989G>T) n.9905G>T c.4092G>T (n.4092G>T) n.9797G>T c.851-2649C>A (n.851-2649C>A) n.2827G>T n.6850G>T n.2991G>T c.2678G>T (p.Arg893Leu) c.26360G>T (p.Arg8787Leu) c.26348G>T (p.Arg8783Leu) c.26339G>T (p.Arg8780Leu) c.26318G>T (p.Arg8773Leu) c.26309G>T (p.Arg8770Leu) c.26303G>T (p.Arg8768Leu) c.26291G>T (p.Arg8764Leu) c.26288G>T (p.Arg8763Leu) c.26249G>T (p.Arg8750Leu) c.26234G>T (p.Arg8745Leu) c.26219G>T (p.Arg8740Leu) c.26207G>T (p.Arg8736Leu) c.26204G>T (p.Arg8735Leu) c.26201G>T (p.Arg8734Leu) c.*24G>T (n.*24G>T) c.26357G>T (p.Arg8786Leu) c.26345G>T (p.Arg8782Leu) c.26195G>T (p.Arg8732Leu) c.24635G>T (p.Arg8212Leu) c.24128G>T (p.Arg8043Leu) c.19595G>T (p.Arg6532Leu) c.26333G>T (p.Arg8778Leu) c.26282G>T (p.Arg8761Leu) c.26246G>T (p.Arg8749Leu) c.26093G>T (p.Arg8698Leu) | gnomAD v4 |
| 6 | g.152122617C= | CA1673189091 | ESR1,SYNE1 | c.2747G= (p.Arg916=) c.26213G= (p.Arg8738=) c.26069G= (p.Arg8690=) c.1556G= c.1931G= c.1798G= c.2063G= (n.2063G=) c.24998G= (p.Arg8333=) n.2961G= c.4989G= (n.4989G=) n.9905G= c.4092G= (n.4092G=) n.9797G= c.851-2649C= (n.851-2649C=) n.2827G= n.6850G= n.2991G= c.2678G= (p.Arg893=) c.26360G= (p.Arg8787=) c.26348G= (p.Arg8783=) c.26339G= (p.Arg8780=) c.26318G= (p.Arg8773=) c.26309G= (p.Arg8770=) c.26303G= (p.Arg8768=) c.26291G= (p.Arg8764=) c.26288G= (p.Arg8763=) c.26249G= (p.Arg8750=) c.26234G= (p.Arg8745=) c.26219G= (p.Arg8740=) c.26207G= (p.Arg8736=) c.26204G= (p.Arg8735=) c.26201G= (p.Arg8734=) c.*24G= (n.*24G=) c.26357G= (p.Arg8786=) c.26345G= (p.Arg8782=) c.26195G= (p.Arg8732=) c.24635G= (p.Arg8212=) c.24128G= (p.Arg8043=) c.19595G= (p.Arg6532=) c.26333G= (p.Arg8778=) c.26282G= (p.Arg8761=) c.26246G= (p.Arg8749=) c.26093G= (p.Arg8698=) | |
| 6 | g.152122617C>G | CA366089118 | ESR1,SYNE1 | c.2747G>C (p.Arg916Pro) c.26213G>C (p.Arg8738Pro) c.26069G>C (p.Arg8690Pro) c.1556G>C c.1931G>C c.1798G>C c.2063G>C (n.2063G>C) c.24998G>C (p.Arg8333Pro) n.2961G>C c.4989G>C (n.4989G>C) n.9905G>C c.4092G>C (n.4092G>C) n.9797G>C c.851-2649C>G (n.851-2649C>G) n.2827G>C n.6850G>C n.2991G>C c.2678G>C (p.Arg893Pro) c.26360G>C (p.Arg8787Pro) c.26348G>C (p.Arg8783Pro) c.26339G>C (p.Arg8780Pro) c.26318G>C (p.Arg8773Pro) c.26309G>C (p.Arg8770Pro) c.26303G>C (p.Arg8768Pro) c.26291G>C (p.Arg8764Pro) c.26288G>C (p.Arg8763Pro) c.26249G>C (p.Arg8750Pro) c.26234G>C (p.Arg8745Pro) c.26219G>C (p.Arg8740Pro) c.26207G>C (p.Arg8736Pro) c.26204G>C (p.Arg8735Pro) c.26201G>C (p.Arg8734Pro) c.*24G>C (n.*24G>C) c.26357G>C (p.Arg8786Pro) c.26345G>C (p.Arg8782Pro) c.26195G>C (p.Arg8732Pro) c.24635G>C (p.Arg8212Pro) c.24128G>C (p.Arg8043Pro) c.19595G>C (p.Arg6532Pro) c.26333G>C (p.Arg8778Pro) c.26282G>C (p.Arg8761Pro) c.26246G>C (p.Arg8749Pro) c.26093G>C (p.Arg8698Pro) | |
| 6 | g.152122617C>T | CA366089116 | ESR1,SYNE1 | c.2747G>A (p.Arg916His) c.26213G>A (p.Arg8738His) c.26069G>A (p.Arg8690His) c.1556G>A c.1931G>A c.1798G>A c.2063G>A (n.2063G>A) c.24998G>A (p.Arg8333His) n.2961G>A c.4989G>A (n.4989G>A) n.9905G>A c.4092G>A (n.4092G>A) n.9797G>A c.851-2649C>T (n.851-2649C>T) n.2827G>A n.6850G>A n.2991G>A c.2678G>A (p.Arg893His) c.26360G>A (p.Arg8787His) c.26348G>A (p.Arg8783His) c.26339G>A (p.Arg8780His) c.26318G>A (p.Arg8773His) c.26309G>A (p.Arg8770His) c.26303G>A (p.Arg8768His) c.26291G>A (p.Arg8764His) c.26288G>A (p.Arg8763His) c.26249G>A (p.Arg8750His) c.26234G>A (p.Arg8745His) c.26219G>A (p.Arg8740His) c.26207G>A (p.Arg8736His) c.26204G>A (p.Arg8735His) c.26201G>A (p.Arg8734His) c.*24G>A (n.*24G>A) c.26357G>A (p.Arg8786His) c.26345G>A (p.Arg8782His) c.26195G>A (p.Arg8732His) c.24635G>A (p.Arg8212His) c.24128G>A (p.Arg8043His) c.19595G>A (p.Arg6532His) c.26333G>A (p.Arg8778His) c.26282G>A (p.Arg8761His) c.26246G>A (p.Arg8749His) c.26093G>A (p.Arg8698His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.152122618G>A | CA4052604 | ESR1,SYNE1 | c.2746C>T (p.Arg916Cys) c.26212C>T (p.Arg8738Cys) c.26068C>T (p.Arg8690Cys) c.1555C>T c.1930C>T c.1797C>T c.2062C>T (n.2062C>T) c.24997C>T (p.Arg8333Cys) n.2960C>T c.4988C>T (n.4988C>T) n.9904C>T c.4091C>T (n.4091C>T) n.9796C>T c.851-2648G>A (n.851-2648G>A) n.2826C>T n.6849C>T n.2990C>T c.2677C>T (p.Arg893Cys) c.26359C>T (p.Arg8787Cys) c.26347C>T (p.Arg8783Cys) c.26338C>T (p.Arg8780Cys) c.26317C>T (p.Arg8773Cys) c.26308C>T (p.Arg8770Cys) c.26302C>T (p.Arg8768Cys) c.26290C>T (p.Arg8764Cys) c.26287C>T (p.Arg8763Cys) c.26248C>T (p.Arg8750Cys) c.26233C>T (p.Arg8745Cys) c.26218C>T (p.Arg8740Cys) c.26206C>T (p.Arg8736Cys) c.26203C>T (p.Arg8735Cys) c.26200C>T (p.Arg8734Cys) c.*23C>T (n.*23C>T) c.26356C>T (p.Arg8786Cys) c.26344C>T (p.Arg8782Cys) c.26194C>T (p.Arg8732Cys) c.24634C>T (p.Arg8212Cys) c.24127C>T (p.Arg8043Cys) c.19594C>T (p.Arg6532Cys) c.26332C>T (p.Arg8778Cys) c.26281C>T (p.Arg8761Cys) c.26245C>T (p.Arg8749Cys) c.26092C>T (p.Arg8698Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.152122618G>C | CA366089121 | ESR1,SYNE1 | c.2746C>G (p.Arg916Gly) c.26212C>G (p.Arg8738Gly) c.26068C>G (p.Arg8690Gly) c.1555C>G c.1930C>G c.1797C>G c.2062C>G (n.2062C>G) c.24997C>G (p.Arg8333Gly) n.2960C>G c.4988C>G (n.4988C>G) n.9904C>G c.4091C>G (n.4091C>G) n.9796C>G c.851-2648G>C (n.851-2648G>C) n.2826C>G n.6849C>G n.2990C>G c.2677C>G (p.Arg893Gly) c.26359C>G (p.Arg8787Gly) c.26347C>G (p.Arg8783Gly) c.26338C>G (p.Arg8780Gly) c.26317C>G (p.Arg8773Gly) c.26308C>G (p.Arg8770Gly) c.26302C>G (p.Arg8768Gly) c.26290C>G (p.Arg8764Gly) c.26287C>G (p.Arg8763Gly) c.26248C>G (p.Arg8750Gly) c.26233C>G (p.Arg8745Gly) c.26218C>G (p.Arg8740Gly) c.26206C>G (p.Arg8736Gly) c.26203C>G (p.Arg8735Gly) c.26200C>G (p.Arg8734Gly) c.*23C>G (n.*23C>G) c.26356C>G (p.Arg8786Gly) c.26344C>G (p.Arg8782Gly) c.26194C>G (p.Arg8732Gly) c.24634C>G (p.Arg8212Gly) c.24127C>G (p.Arg8043Gly) c.19594C>G (p.Arg6532Gly) c.26332C>G (p.Arg8778Gly) c.26281C>G (p.Arg8761Gly) c.26245C>G (p.Arg8749Gly) c.26092C>G (p.Arg8698Gly) | gnomAD v4 |
| 6 | g.152122618G= | CA1673189096 | ESR1,SYNE1 | c.2746C= (p.Arg916=) c.26212C= (p.Arg8738=) c.26068C= (p.Arg8690=) c.1555C= c.1930C= c.1797C= c.2062C= (n.2062C=) c.24997C= (p.Arg8333=) n.2960C= c.4988C= (n.4988C=) n.9904C= c.4091C= (n.4091C=) n.9796C= c.851-2648G= (n.851-2648G=) n.2826C= n.6849C= n.2990C= c.2677C= (p.Arg893=) c.26359C= (p.Arg8787=) c.26347C= (p.Arg8783=) c.26338C= (p.Arg8780=) c.26317C= (p.Arg8773=) c.26308C= (p.Arg8770=) c.26302C= (p.Arg8768=) c.26290C= (p.Arg8764=) c.26287C= (p.Arg8763=) c.26248C= (p.Arg8750=) c.26233C= (p.Arg8745=) c.26218C= (p.Arg8740=) c.26206C= (p.Arg8736=) c.26203C= (p.Arg8735=) c.26200C= (p.Arg8734=) c.*23C= (n.*23C=) c.26356C= (p.Arg8786=) c.26344C= (p.Arg8782=) c.26194C= (p.Arg8732=) c.24634C= (p.Arg8212=) c.24127C= (p.Arg8043=) c.19594C= (p.Arg6532=) c.26332C= (p.Arg8778=) c.26281C= (p.Arg8761=) c.26245C= (p.Arg8749=) c.26092C= (p.Arg8698=) | |
| 6 | g.152122618G>T | CA366089123 | ESR1,SYNE1 | c.2746C>A (p.Arg916Ser) c.26212C>A (p.Arg8738Ser) c.26068C>A (p.Arg8690Ser) c.1555C>A c.1930C>A c.1797C>A c.2062C>A (n.2062C>A) c.24997C>A (p.Arg8333Ser) n.2960C>A c.4988C>A (n.4988C>A) n.9904C>A c.4091C>A (n.4091C>A) n.9796C>A c.851-2648G>T (n.851-2648G>T) n.2826C>A n.6849C>A n.2990C>A c.2677C>A (p.Arg893Ser) c.26359C>A (p.Arg8787Ser) c.26347C>A (p.Arg8783Ser) c.26338C>A (p.Arg8780Ser) c.26317C>A (p.Arg8773Ser) c.26308C>A (p.Arg8770Ser) c.26302C>A (p.Arg8768Ser) c.26290C>A (p.Arg8764Ser) c.26287C>A (p.Arg8763Ser) c.26248C>A (p.Arg8750Ser) c.26233C>A (p.Arg8745Ser) c.26218C>A (p.Arg8740Ser) c.26206C>A (p.Arg8736Ser) c.26203C>A (p.Arg8735Ser) c.26200C>A (p.Arg8734Ser) c.*23C>A (n.*23C>A) c.26356C>A (p.Arg8786Ser) c.26344C>A (p.Arg8782Ser) c.26194C>A (p.Arg8732Ser) c.24634C>A (p.Arg8212Ser) c.24127C>A (p.Arg8043Ser) c.19594C>A (p.Arg6532Ser) c.26332C>A (p.Arg8778Ser) c.26281C>A (p.Arg8761Ser) c.26245C>A (p.Arg8749Ser) c.26092C>A (p.Arg8698Ser) | |
| 6 | g.152122619G>A | CA452969655 | ESR1,SYNE1 | c.2745C>T (p.Gly915=) c.26211C>T (p.Gly8737=) c.26067C>T (p.Gly8689=) c.1554C>T c.1929C>T c.1796C>T c.2061C>T (n.2061C>T) c.24996C>T (p.Gly8332=) n.2959C>T c.4987C>T (n.4987C>T) n.9903C>T c.4090C>T (n.4090C>T) n.9795C>T c.851-2647G>A (n.851-2647G>A) n.2825C>T n.6848C>T n.2989C>T c.2676C>T (p.Gly892=) c.26358C>T (p.Gly8786=) c.26346C>T (p.Gly8782=) c.26337C>T (p.Gly8779=) c.26316C>T (p.Gly8772=) c.26307C>T (p.Gly8769=) c.26301C>T (p.Gly8767=) c.26289C>T (p.Gly8763=) c.26286C>T (p.Gly8762=) c.26247C>T (p.Gly8749=) c.26232C>T (p.Gly8744=) c.26217C>T (p.Gly8739=) c.26205C>T (p.Gly8735=) c.26202C>T (p.Gly8734=) c.26199C>T (p.Gly8733=) c.*22C>T (n.*22C>T) c.26355C>T (p.Gly8785=) c.26343C>T (p.Gly8781=) c.26193C>T (p.Gly8731=) c.24633C>T (p.Gly8211=) c.24126C>T (p.Gly8042=) c.19593C>T (p.Gly6531=) c.26331C>T (p.Gly8777=) c.26280C>T (p.Gly8760=) c.26244C>T (p.Gly8748=) c.26091C>T (p.Gly8697=) | |
| 6 | g.152122619G>C | CA452969656 | ESR1,SYNE1 | c.2745C>G (p.Gly915=) c.26211C>G (p.Gly8737=) c.26067C>G (p.Gly8689=) c.1554C>G c.1929C>G c.1796C>G c.2061C>G (n.2061C>G) c.24996C>G (p.Gly8332=) n.2959C>G c.4987C>G (n.4987C>G) n.9903C>G c.4090C>G (n.4090C>G) n.9795C>G c.851-2647G>C (n.851-2647G>C) n.2825C>G n.6848C>G n.2989C>G c.2676C>G (p.Gly892=) c.26358C>G (p.Gly8786=) c.26346C>G (p.Gly8782=) c.26337C>G (p.Gly8779=) c.26316C>G (p.Gly8772=) c.26307C>G (p.Gly8769=) c.26301C>G (p.Gly8767=) c.26289C>G (p.Gly8763=) c.26286C>G (p.Gly8762=) c.26247C>G (p.Gly8749=) c.26232C>G (p.Gly8744=) c.26217C>G (p.Gly8739=) c.26205C>G (p.Gly8735=) c.26202C>G (p.Gly8734=) c.26199C>G (p.Gly8733=) c.*22C>G (n.*22C>G) c.26355C>G (p.Gly8785=) c.26343C>G (p.Gly8781=) c.26193C>G (p.Gly8731=) c.24633C>G (p.Gly8211=) c.24126C>G (p.Gly8042=) c.19593C>G (p.Gly6531=) c.26331C>G (p.Gly8777=) c.26280C>G (p.Gly8760=) c.26244C>G (p.Gly8748=) c.26091C>G (p.Gly8697=) | |
| 6 | g.152122619G>T | CA452969657 | ESR1,SYNE1 | c.2745C>A (p.Gly915=) c.26211C>A (p.Gly8737=) c.26067C>A (p.Gly8689=) c.1554C>A c.1929C>A c.1796C>A c.2061C>A (n.2061C>A) c.24996C>A (p.Gly8332=) n.2959C>A c.4987C>A (n.4987C>A) n.9903C>A c.4090C>A (n.4090C>A) n.9795C>A c.851-2647G>T (n.851-2647G>T) n.2825C>A n.6848C>A n.2989C>A c.2676C>A (p.Gly892=) c.26358C>A (p.Gly8786=) c.26346C>A (p.Gly8782=) c.26337C>A (p.Gly8779=) c.26316C>A (p.Gly8772=) c.26307C>A (p.Gly8769=) c.26301C>A (p.Gly8767=) c.26289C>A (p.Gly8763=) c.26286C>A (p.Gly8762=) c.26247C>A (p.Gly8749=) c.26232C>A (p.Gly8744=) c.26217C>A (p.Gly8739=) c.26205C>A (p.Gly8735=) c.26202C>A (p.Gly8734=) c.26199C>A (p.Gly8733=) c.*22C>A (n.*22C>A) c.26355C>A (p.Gly8785=) c.26343C>A (p.Gly8781=) c.26193C>A (p.Gly8731=) c.24633C>A (p.Gly8211=) c.24126C>A (p.Gly8042=) c.19593C>A (p.Gly6531=) c.26331C>A (p.Gly8777=) c.26280C>A (p.Gly8760=) c.26244C>A (p.Gly8748=) c.26091C>A (p.Gly8697=) | |
| 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=) |