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.152098767G>A | CA366085655 | ESR1 | c.1589G>A (p.Cys530Tyr) n.917G>A c.806G>A (p.Cys269Tyr) c.851-26499G>A (n.851-26499G>A) c.*464G>A (n.*464G>A) c.1595G>A (p.Cys532Tyr) c.1586G>A (p.Cys529Tyr) c.*4G>A (n.*4G>A) c.1070G>A (p.Cys357Tyr) c.860G>A (p.Cys287Tyr) c.932G>A (p.Cys311Tyr) c.800G>A (p.Cys267Tyr) n.1636G>A | |
| 6 | g.152098767G>C | CA366085657 | ESR1 | c.1589G>C (p.Cys530Ser) n.917G>C c.806G>C (p.Cys269Ser) c.851-26499G>C (n.851-26499G>C) c.*464G>C (n.*464G>C) c.1595G>C (p.Cys532Ser) c.1586G>C (p.Cys529Ser) c.*4G>C (n.*4G>C) c.1070G>C (p.Cys357Ser) c.860G>C (p.Cys287Ser) c.932G>C (p.Cys311Ser) c.800G>C (p.Cys267Ser) n.1636G>C | |
| 6 | g.152098767G>T | CA366085656 | ESR1 | c.1589G>T (p.Cys530Phe) n.917G>T c.806G>T (p.Cys269Phe) c.851-26499G>T (n.851-26499G>T) c.*464G>T (n.*464G>T) c.1595G>T (p.Cys532Phe) c.1586G>T (p.Cys529Phe) c.*4G>T (n.*4G>T) c.1070G>T (p.Cys357Phe) c.860G>T (p.Cys287Phe) c.932G>T (p.Cys311Phe) c.800G>T (p.Cys267Phe) n.1636G>T | |
| 6 | g.152098768C>A | CA366085658 | ESR1 | c.1590C>A (p.Cys530Ter) n.918C>A c.807C>A (p.Cys269Ter) c.851-26498C>A (n.851-26498C>A) c.*465C>A (n.*465C>A) c.1596C>A (p.Cys532Ter) c.1587C>A (p.Cys529Ter) c.*5C>A (n.*5C>A) c.1071C>A (p.Cys357Ter) c.861C>A (p.Cys287Ter) c.933C>A (p.Cys311Ter) c.801C>A (p.Cys267Ter) n.1637C>A | |
| 6 | g.152098768C>G | CA366085659 | ESR1 | c.1590C>G (p.Cys530Trp) n.918C>G c.807C>G (p.Cys269Trp) c.851-26498C>G (n.851-26498C>G) c.*465C>G (n.*465C>G) c.1596C>G (p.Cys532Trp) c.1587C>G (p.Cys529Trp) c.*5C>G (n.*5C>G) c.1071C>G (p.Cys357Trp) c.861C>G (p.Cys287Trp) c.933C>G (p.Cys311Trp) c.801C>G (p.Cys267Trp) n.1637C>G | dbSNP |
| 6 | g.152098768C>T | CA452746518 | ESR1 | c.1590C>T (p.Cys530=) n.918C>T c.807C>T (p.Cys269=) c.851-26498C>T (n.851-26498C>T) c.*465C>T (n.*465C>T) c.1596C>T (p.Cys532=) c.1587C>T (p.Cys529=) c.*5C>T (n.*5C>T) c.1071C>T (p.Cys357=) c.861C>T (p.Cys287=) c.933C>T (p.Cys311=) c.801C>T (p.Cys267=) n.1637C>T | dbSNP |
| 6 | g.152098769A>C | CA366085660 | ESR1 | c.1591A>C (p.Lys531Gln) n.919A>C c.808A>C (p.Lys270Gln) c.851-26497A>C (n.851-26497A>C) c.*466A>C (n.*466A>C) c.1597A>C (p.Lys533Gln) c.1588A>C (p.Lys530Gln) c.*6A>C (n.*6A>C) c.1072A>C (p.Lys358Gln) c.862A>C (p.Lys288Gln) c.934A>C (p.Lys312Gln) c.802A>C (p.Lys268Gln) n.1638A>C | |
| 6 | g.152098769A>G | CA366085661 | ESR1 | c.1591A>G (p.Lys531Glu) n.919A>G c.808A>G (p.Lys270Glu) c.851-26497A>G (n.851-26497A>G) c.*466A>G (n.*466A>G) c.1597A>G (p.Lys533Glu) c.1588A>G (p.Lys530Glu) c.*6A>G (n.*6A>G) c.1072A>G (p.Lys358Glu) c.862A>G (p.Lys288Glu) c.934A>G (p.Lys312Glu) c.802A>G (p.Lys268Glu) n.1638A>G | dbSNP COSMIC |
| 6 | g.152098769A>T | CA366085662 | ESR1 | c.1591A>T (p.Lys531Ter) n.919A>T c.808A>T (p.Lys270Ter) c.851-26497A>T (n.851-26497A>T) c.*466A>T (n.*466A>T) c.1597A>T (p.Lys533Ter) c.1588A>T (p.Lys530Ter) c.*6A>T (n.*6A>T) c.1072A>T (p.Lys358Ter) c.862A>T (p.Lys288Ter) c.934A>T (p.Lys312Ter) c.802A>T (p.Lys268Ter) n.1638A>T | |
| 6 | g.152098770A= | CA1673175233 | ESR1 | c.1592A= (p.Lys531=) n.920A= c.809A= (p.Lys270=) c.851-26496A= (n.851-26496A=) c.*467A= (n.*467A=) c.1598A= (p.Lys533=) c.1589A= (p.Lys530=) c.*7A= (n.*7A=) c.1073A= (p.Lys358=) c.863A= (p.Lys288=) c.935A= (p.Lys312=) c.803A= (p.Lys268=) n.1639A= | |
| 6 | g.152098770A>C | CA366085663 | ESR1 | c.1592A>C (p.Lys531Thr) n.920A>C c.809A>C (p.Lys270Thr) c.851-26496A>C (n.851-26496A>C) c.*467A>C (n.*467A>C) c.1598A>C (p.Lys533Thr) c.1589A>C (p.Lys530Thr) c.*7A>C (n.*7A>C) c.1073A>C (p.Lys358Thr) c.863A>C (p.Lys288Thr) c.935A>C (p.Lys312Thr) c.803A>C (p.Lys268Thr) n.1639A>C | |
| 6 | g.152098770A>G | CA150173583 | ESR1 | c.1592A>G (p.Lys531Arg) n.920A>G c.809A>G (p.Lys270Arg) c.851-26496A>G (n.851-26496A>G) c.*467A>G (n.*467A>G) c.1598A>G (p.Lys533Arg) c.1589A>G (p.Lys530Arg) c.*7A>G (n.*7A>G) c.1073A>G (p.Lys358Arg) c.863A>G (p.Lys288Arg) c.935A>G (p.Lys312Arg) c.803A>G (p.Lys268Arg) n.1639A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152098770A>T | CA366085664 | ESR1 | c.1592A>T (p.Lys531Met) n.920A>T c.809A>T (p.Lys270Met) c.851-26496A>T (n.851-26496A>T) c.*467A>T (n.*467A>T) c.1598A>T (p.Lys533Met) c.1589A>T (p.Lys530Met) c.*7A>T (n.*7A>T) c.1073A>T (p.Lys358Met) c.863A>T (p.Lys288Met) c.935A>T (p.Lys312Met) c.803A>T (p.Lys268Met) n.1639A>T | dbSNP COSMIC |
| 6 | g.152098771G>A | CA452746522 | ESR1 | c.1593G>A (p.Lys531=) n.921G>A c.810G>A (p.Lys270=) c.851-26495G>A (n.851-26495G>A) c.*468G>A (n.*468G>A) c.1599G>A (p.Lys533=) c.1590G>A (p.Lys530=) c.*8G>A (n.*8G>A) c.1074G>A (p.Lys358=) c.864G>A (p.Lys288=) c.936G>A (p.Lys312=) c.804G>A (p.Lys268=) n.1640G>A | dbSNP |
| 6 | g.152098771G>C | CA366085665 | ESR1 | c.1593G>C (p.Lys531Asn) n.921G>C c.810G>C (p.Lys270Asn) c.851-26495G>C (n.851-26495G>C) c.*468G>C (n.*468G>C) c.1599G>C (p.Lys533Asn) c.1590G>C (p.Lys530Asn) c.*8G>C (n.*8G>C) c.1074G>C (p.Lys358Asn) c.864G>C (p.Lys288Asn) c.936G>C (p.Lys312Asn) c.804G>C (p.Lys268Asn) n.1640G>C | dbSNP |
| 6 | g.152098771G>T | CA366085666 | ESR1 | c.1593G>T (p.Lys531Asn) n.921G>T c.810G>T (p.Lys270Asn) c.851-26495G>T (n.851-26495G>T) c.*468G>T (n.*468G>T) c.1599G>T (p.Lys533Asn) c.1590G>T (p.Lys530Asn) c.*8G>T (n.*8G>T) c.1074G>T (p.Lys358Asn) c.864G>T (p.Lys288Asn) c.936G>T (p.Lys312Asn) c.804G>T (p.Lys268Asn) n.1640G>T | |
| 6 | g.152098772A>C | CA366085667 | ESR1 | c.1594A>C (p.Asn532His) n.922A>C c.811A>C (p.Asn271His) c.851-26494A>C (n.851-26494A>C) c.*469A>C (n.*469A>C) c.1600A>C (p.Asn534His) c.1591A>C (p.Asn531His) c.*9A>C (n.*9A>C) c.1075A>C (p.Asn359His) c.865A>C (p.Asn289His) c.937A>C (p.Asn313His) c.805A>C (p.Asn269His) n.1641A>C | |
| 6 | g.152098772A>G | CA366085668 | ESR1 | c.1594A>G (p.Asn532Asp) n.922A>G c.811A>G (p.Asn271Asp) c.851-26494A>G (n.851-26494A>G) c.*469A>G (n.*469A>G) c.1600A>G (p.Asn534Asp) c.1591A>G (p.Asn531Asp) c.*9A>G (n.*9A>G) c.1075A>G (p.Asn359Asp) c.865A>G (p.Asn289Asp) c.937A>G (p.Asn313Asp) c.805A>G (p.Asn269Asp) n.1641A>G | |
| 6 | g.152098772A>T | CA366085669 | ESR1 | c.1594A>T (p.Asn532Tyr) n.922A>T c.811A>T (p.Asn271Tyr) c.851-26494A>T (n.851-26494A>T) c.*469A>T (n.*469A>T) c.1600A>T (p.Asn534Tyr) c.1591A>T (p.Asn531Tyr) c.*9A>T (n.*9A>T) c.1075A>T (p.Asn359Tyr) c.865A>T (p.Asn289Tyr) c.937A>T (p.Asn313Tyr) c.805A>T (p.Asn269Tyr) n.1641A>T | |
| 6 | g.152098773A>C | CA366085670 | ESR1 | c.1595A>C (p.Asn532Thr) n.923A>C c.812A>C (p.Asn271Thr) c.851-26493A>C (n.851-26493A>C) c.*470A>C (n.*470A>C) c.1601A>C (p.Asn534Thr) c.1592A>C (p.Asn531Thr) c.*10A>C (n.*10A>C) c.1076A>C (p.Asn359Thr) c.866A>C (p.Asn289Thr) c.938A>C (p.Asn313Thr) c.806A>C (p.Asn269Thr) n.1642A>C | dbSNP |
| 6 | g.152098773A>G | CA366085672 | ESR1 | c.1595A>G (p.Asn532Ser) n.923A>G c.812A>G (p.Asn271Ser) c.851-26493A>G (n.851-26493A>G) c.*470A>G (n.*470A>G) c.1601A>G (p.Asn534Ser) c.1592A>G (p.Asn531Ser) c.*10A>G (n.*10A>G) c.1076A>G (p.Asn359Ser) c.866A>G (p.Asn289Ser) c.938A>G (p.Asn313Ser) c.806A>G (p.Asn269Ser) n.1642A>G | |
| 6 | g.152098773A>T | CA366085671 | ESR1 | c.1595A>T (p.Asn532Ile) n.923A>T c.812A>T (p.Asn271Ile) c.851-26493A>T (n.851-26493A>T) c.*470A>T (n.*470A>T) c.1601A>T (p.Asn534Ile) c.1592A>T (p.Asn531Ile) c.*10A>T (n.*10A>T) c.1076A>T (p.Asn359Ile) c.866A>T (p.Asn289Ile) c.938A>T (p.Asn313Ile) c.806A>T (p.Asn269Ile) n.1642A>T | dbSNP |
| 6 | g.152098774C>A | CA4052495 | ESR1 | c.1596C>A (p.Asn532Lys) n.924C>A c.813C>A (p.Asn271Lys) c.851-26492C>A (n.851-26492C>A) c.*471C>A (n.*471C>A) c.1602C>A (p.Asn534Lys) c.1593C>A (p.Asn531Lys) c.*11C>A (n.*11C>A) c.1077C>A (p.Asn359Lys) c.867C>A (p.Asn289Lys) c.939C>A (p.Asn313Lys) c.807C>A (p.Asn269Lys) n.1643C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152098774C= | CA1673175236 | ESR1 | c.1596C= (p.Asn532=) n.924C= c.813C= (p.Asn271=) c.851-26492C= (n.851-26492C=) c.*471C= (n.*471C=) c.1602C= (p.Asn534=) c.1593C= (p.Asn531=) c.*11C= (n.*11C=) c.1077C= (p.Asn359=) c.867C= (p.Asn289=) c.939C= (p.Asn313=) c.807C= (p.Asn269=) n.1643C= | |
| 6 | g.152098774C>G | CA366085673 | ESR1 | c.1596C>G (p.Asn532Lys) n.924C>G c.813C>G (p.Asn271Lys) c.851-26492C>G (n.851-26492C>G) c.*471C>G (n.*471C>G) c.1602C>G (p.Asn534Lys) c.1593C>G (p.Asn531Lys) c.*11C>G (n.*11C>G) c.1077C>G (p.Asn359Lys) c.867C>G (p.Asn289Lys) c.939C>G (p.Asn313Lys) c.807C>G (p.Asn269Lys) n.1643C>G | dbSNP |
| 6 | g.152098774C>T | CA4052494 | ESR1 | c.1596C>T (p.Asn532=) n.924C>T c.813C>T (p.Asn271=) c.851-26492C>T (n.851-26492C>T) c.*471C>T (n.*471C>T) c.1602C>T (p.Asn534=) c.1593C>T (p.Asn531=) c.*11C>T (n.*11C>T) c.1077C>T (p.Asn359=) c.867C>T (p.Asn289=) c.939C>T (p.Asn313=) c.807C>T (p.Asn269=) n.1643C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152098775G>A | CA4052496 | ESR1 | c.1597G>A (p.Val533Met) n.925G>A c.814G>A (p.Val272Met) c.851-26491G>A (n.851-26491G>A) c.*472G>A (n.*472G>A) c.1603G>A (p.Val535Met) c.1594G>A (p.Val532Met) c.*12G>A (n.*12G>A) c.1078G>A (p.Val360Met) c.868G>A (p.Val290Met) c.940G>A (p.Val314Met) c.808G>A (p.Val270Met) n.1644G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.152098775G>C | CA150173612 | ESR1 | c.1597G>C (p.Val533Leu) n.925G>C c.814G>C (p.Val272Leu) c.851-26491G>C (n.851-26491G>C) c.*472G>C (n.*472G>C) c.1603G>C (p.Val535Leu) c.1594G>C (p.Val532Leu) c.*12G>C (n.*12G>C) c.1078G>C (p.Val360Leu) c.868G>C (p.Val290Leu) c.940G>C (p.Val314Leu) c.808G>C (p.Val270Leu) n.1644G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152098775G= | CA1673175243 | ESR1 | c.1597G= (p.Val533=) n.925G= c.814G= (p.Val272=) c.851-26491G= (n.851-26491G=) c.*472G= (n.*472G=) c.1603G= (p.Val535=) c.1594G= (p.Val532=) c.*12G= (n.*12G=) c.1078G= (p.Val360=) c.868G= (p.Val290=) c.940G= (p.Val314=) c.808G= (p.Val270=) n.1644G= | |
| 6 | g.152098775G>T | CA366085674 | ESR1 | c.1597G>T (p.Val533Leu) n.925G>T c.814G>T (p.Val272Leu) c.851-26491G>T (n.851-26491G>T) c.*472G>T (n.*472G>T) c.1603G>T (p.Val535Leu) c.1594G>T (p.Val532Leu) c.*12G>T (n.*12G>T) c.1078G>T (p.Val360Leu) c.868G>T (p.Val290Leu) c.940G>T (p.Val314Leu) c.808G>T (p.Val270Leu) n.1644G>T | dbSNP |
| 6 | g.152098776T>A | CA366085675 | ESR1 | c.1598T>A (p.Val533Glu) n.926T>A c.815T>A (p.Val272Glu) c.851-26490T>A (n.851-26490T>A) c.*473T>A (n.*473T>A) c.1604T>A (p.Val535Glu) c.1595T>A (p.Val532Glu) c.*13T>A (n.*13T>A) c.1079T>A (p.Val360Glu) c.869T>A (p.Val290Glu) c.941T>A (p.Val314Glu) c.809T>A (p.Val270Glu) n.1645T>A | |
| 6 | g.152098776T>C | CA366085676 | ESR1 | c.1598T>C (p.Val533Ala) n.926T>C c.815T>C (p.Val272Ala) c.851-26490T>C (n.851-26490T>C) c.*473T>C (n.*473T>C) c.1604T>C (p.Val535Ala) c.1595T>C (p.Val532Ala) c.*13T>C (n.*13T>C) c.1079T>C (p.Val360Ala) c.869T>C (p.Val290Ala) c.941T>C (p.Val314Ala) c.809T>C (p.Val270Ala) n.1645T>C | gnomAD v4 |
| 6 | g.152098776T>G | CA366085677 | ESR1 | c.1598T>G (p.Val533Gly) n.926T>G c.815T>G (p.Val272Gly) c.851-26490T>G (n.851-26490T>G) c.*473T>G (n.*473T>G) c.1604T>G (p.Val535Gly) c.1595T>G (p.Val532Gly) c.*13T>G (n.*13T>G) c.1079T>G (p.Val360Gly) c.869T>G (p.Val290Gly) c.941T>G (p.Val314Gly) c.809T>G (p.Val270Gly) n.1645T>G | |
| 6 | g.152098777G>A | CA452746525 | ESR1 | c.1599G>A (p.Val533=) n.927G>A c.816G>A (p.Val272=) c.851-26489G>A (n.851-26489G>A) c.*474G>A (n.*474G>A) c.1605G>A (p.Val535=) c.1596G>A (p.Val532=) c.*14G>A (n.*14G>A) c.1080G>A (p.Val360=) c.870G>A (p.Val290=) c.942G>A (p.Val314=) c.810G>A (p.Val270=) n.1646G>A | |
| 6 | g.152098777G>C | CA452746527 | ESR1 | c.1599G>C (p.Val533=) n.927G>C c.816G>C (p.Val272=) c.851-26489G>C (n.851-26489G>C) c.*474G>C (n.*474G>C) c.1605G>C (p.Val535=) c.1596G>C (p.Val532=) c.*14G>C (n.*14G>C) c.1080G>C (p.Val360=) c.870G>C (p.Val290=) c.942G>C (p.Val314=) c.810G>C (p.Val270=) n.1646G>C | dbSNP |
| 6 | g.152098777G= | CA1673175247 | ESR1 | c.1599G= (p.Val533=) n.927G= c.816G= (p.Val272=) c.851-26489G= (n.851-26489G=) c.*474G= (n.*474G=) c.1605G= (p.Val535=) c.1596G= (p.Val532=) c.*14G= (n.*14G=) c.1080G= (p.Val360=) c.870G= (p.Val290=) c.942G= (p.Val314=) c.810G= (p.Val270=) n.1646G= | |
| 6 | g.152098777G>T | CA4052497 | ESR1 | c.1599G>T (p.Val533=) n.927G>T c.816G>T (p.Val272=) c.851-26489G>T (n.851-26489G>T) c.*474G>T (n.*474G>T) c.1605G>T (p.Val535=) c.1596G>T (p.Val532=) c.*14G>T (n.*14G>T) c.1080G>T (p.Val360=) c.870G>T (p.Val290=) c.942G>T (p.Val314=) c.810G>T (p.Val270=) n.1646G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.152098778G>A | CA366085680 | ESR1 | c.1600G>A (p.Val534Met) n.928G>A c.817G>A (p.Val273Met) c.851-26488G>A (n.851-26488G>A) c.*475G>A (n.*475G>A) c.1606G>A (p.Val536Met) c.1597G>A (p.Val533Met) c.*15G>A (n.*15G>A) c.1081G>A (p.Val361Met) c.871G>A (p.Val291Met) c.943G>A (p.Val315Met) c.811G>A (p.Val271Met) n.1647G>A | dbSNP COSMIC |
| 6 | g.152098778G>C | CA366085679 | ESR1 | c.1600G>C (p.Val534Leu) n.928G>C c.817G>C (p.Val273Leu) c.851-26488G>C (n.851-26488G>C) c.*475G>C (n.*475G>C) c.1606G>C (p.Val536Leu) c.1597G>C (p.Val533Leu) c.*15G>C (n.*15G>C) c.1081G>C (p.Val361Leu) c.871G>C (p.Val291Leu) c.943G>C (p.Val315Leu) c.811G>C (p.Val271Leu) n.1647G>C | dbSNP |
| 6 | g.152098778G>T | CA366085678 | ESR1 | c.1600G>T (p.Val534Leu) n.928G>T c.817G>T (p.Val273Leu) c.851-26488G>T (n.851-26488G>T) c.*475G>T (n.*475G>T) c.1606G>T (p.Val536Leu) c.1597G>T (p.Val533Leu) c.*15G>T (n.*15G>T) c.1081G>T (p.Val361Leu) c.871G>T (p.Val291Leu) c.943G>T (p.Val315Leu) c.811G>T (p.Val271Leu) n.1647G>T | |
| 6 | g.152098779T>A | CA16602415 | ESR1 | c.1601T>A (p.Val534Glu) n.929T>A c.818T>A (p.Val273Glu) c.851-26487T>A (n.851-26487T>A) c.*476T>A (n.*476T>A) c.1607T>A (p.Val536Glu) c.1598T>A (p.Val533Glu) c.*16T>A (n.*16T>A) c.1082T>A (p.Val361Glu) c.872T>A (p.Val291Glu) c.944T>A (p.Val315Glu) c.812T>A (p.Val271Glu) n.1648T>A | ClinVar dbSNP COSMIC |
| 6 | g.152098779T>C | CA366085681 | ESR1 | c.1601T>C (p.Val534Ala) n.929T>C c.818T>C (p.Val273Ala) c.851-26487T>C (n.851-26487T>C) c.*476T>C (n.*476T>C) c.1607T>C (p.Val536Ala) c.1598T>C (p.Val533Ala) c.*16T>C (n.*16T>C) c.1082T>C (p.Val361Ala) c.872T>C (p.Val291Ala) c.944T>C (p.Val315Ala) c.812T>C (p.Val271Ala) n.1648T>C | dbSNP gnomAD v4 |
| 6 | g.152098779T>G | CA366085682 | ESR1 | c.1601T>G (p.Val534Gly) n.929T>G c.818T>G (p.Val273Gly) c.851-26487T>G (n.851-26487T>G) c.*476T>G (n.*476T>G) c.1607T>G (p.Val536Gly) c.1598T>G (p.Val533Gly) c.*16T>G (n.*16T>G) c.1082T>G (p.Val361Gly) c.872T>G (p.Val291Gly) c.944T>G (p.Val315Gly) c.812T>G (p.Val271Gly) n.1648T>G | dbSNP |
| 6 | g.152098779T= | CA1673175254 | ESR1 | c.1601T= (p.Val534=) n.929T= c.818T= (p.Val273=) c.851-26487T= (n.851-26487T=) c.*476T= (n.*476T=) c.1607T= (p.Val536=) c.1598T= (p.Val533=) c.*16T= (n.*16T=) c.1082T= (p.Val361=) c.872T= (p.Val291=) c.944T= (p.Val315=) c.812T= (p.Val271=) n.1648T= | |
| 6 | g.152098779_152098780delinsTG | CA1673175257 | ESR1 | c.1601_1602delinsTG (p.Val534=) n.929_930delinsTG c.818_819delinsTG (p.Val273=) c.851-26487_851-26486delinsTG (n.851-26487_851-26486delinsTG) c.*476_*477delinsTG (n.*476_*477delinsTG) c.1607_1608delinsTG (p.Val536=) c.1598_1599delinsTG (p.Val533=) c.*16_*17delinsTG (n.*16_*17delinsTG) c.1082_1083delinsTG (p.Val361=) c.872_873delinsTG (p.Val291=) c.944_945delinsTG (p.Val315=) c.812_813delinsTG (p.Val271=) n.1648_1649delinsTG | |
| 6 | g.152098780del | CA1095918584 | ESR1 | c.1602del (p.Leu536SerfsTer?) n.930del c.819del (p.Leu275SerfsTer?) c.851-26486del (n.851-26486del) c.*477del (n.*477del) c.1608del (p.Leu538SerfsTer?) c.1599del (p.Leu535SerfsTer?) c.*17del (n.*17del) c.1083del (p.Leu363SerfsTer?) c.873del (p.Leu293SerfsTer?) c.945del (p.Leu317SerfsTer?) c.813del (p.Leu273SerfsTer?) n.1649del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152098780G>A | CA452746528 | ESR1 | c.1602G>A (p.Val534=) n.930G>A c.819G>A (p.Val273=) c.851-26486G>A (n.851-26486G>A) c.*477G>A (n.*477G>A) c.1608G>A (p.Val536=) c.1599G>A (p.Val533=) c.*17G>A (n.*17G>A) c.1083G>A (p.Val361=) c.873G>A (p.Val291=) c.945G>A (p.Val315=) c.813G>A (p.Val271=) n.1649G>A | dbSNP gnomAD v4 |
| 6 | g.152098780G>C | CA452746532 | ESR1 | c.1602G>C (p.Val534=) n.930G>C c.819G>C (p.Val273=) c.851-26486G>C (n.851-26486G>C) c.*477G>C (n.*477G>C) c.1608G>C (p.Val536=) c.1599G>C (p.Val533=) c.*17G>C (n.*17G>C) c.1083G>C (p.Val361=) c.873G>C (p.Val291=) c.945G>C (p.Val315=) c.813G>C (p.Val271=) n.1649G>C | dbSNP |
| 6 | g.152098780G= | CA1673175264 | ESR1 | c.1602G= (p.Val534=) n.930G= c.819G= (p.Val273=) c.851-26486G= (n.851-26486G=) c.*477G= (n.*477G=) c.1608G= (p.Val536=) c.1599G= (p.Val533=) c.*17G= (n.*17G=) c.1083G= (p.Val361=) c.873G= (p.Val291=) c.945G= (p.Val315=) c.813G= (p.Val271=) n.1649G= | |
| 6 | g.152098780G>T | CA452746530 | ESR1 | c.1602G>T (p.Val534=) n.930G>T c.819G>T (p.Val273=) c.851-26486G>T (n.851-26486G>T) c.*477G>T (n.*477G>T) c.1608G>T (p.Val536=) c.1599G>T (p.Val533=) c.*17G>T (n.*17G>T) c.1083G>T (p.Val361=) c.873G>T (p.Val291=) c.945G>T (p.Val315=) c.813G>T (p.Val271=) n.1649G>T | dbSNP |