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 |
|---|---|---|---|---|---|
| 2 | g.48963122C>A | CA346767082 | FSHR | c.1699G>T (p.Asp567Tyr) c.1621G>T (p.Asp541Tyr) c.1801G>T (p.Asp601Tyr) c.1468G>T (p.Asp490Tyr) c.907G>T (p.Asp303Tyr) c.956+5576G>T (n.956+5576G>T) | |
| 2 | g.48963122C= | CA1248751013 | FSHR | c.1699G= (p.Asp567=) c.1621G= (p.Asp541=) c.1801G= (p.Asp601=) c.1468G= (p.Asp490=) c.907G= (p.Asp303=) c.956+5576G= (n.956+5576G=) | |
| 2 | g.48963122C>G | CA346767083 | FSHR | c.1699G>C (p.Asp567His) c.1621G>C (p.Asp541His) c.1801G>C (p.Asp601His) c.1468G>C (p.Asp490His) c.907G>C (p.Asp303His) c.956+5576G>C (n.956+5576G>C) | |
| 2 | g.48963122C>T | CA126318 | FSHR | c.1699G>A (p.Asp567Asn) c.1621G>A (p.Asp541Asn) c.1801G>A (p.Asp601Asn) c.1468G>A (p.Asp490Asn) c.907G>A (p.Asp303Asn) c.956+5576G>A (n.956+5576G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48963123A= | CA1248751014 | FSHR | c.1698T= (p.Ser566=) c.1620T= (p.Ser540=) c.1800T= (p.Ser600=) c.1467T= (p.Ser489=) c.906T= (p.Ser302=) c.956+5575T= (n.956+5575T=) | |
| 2 | g.48963123A>C | CA346767084 | FSHR | c.1698T>G (p.Ser566Arg) c.1620T>G (p.Ser540Arg) c.1800T>G (p.Ser600Arg) c.1467T>G (p.Ser489Arg) c.906T>G (p.Ser302Arg) c.956+5575T>G (n.956+5575T>G) | |
| 2 | g.48963123A>G | CA47326727 | FSHR | c.1698T>C (p.Ser566=) c.1620T>C (p.Ser540=) c.1800T>C (p.Ser600=) c.1467T>C (p.Ser489=) c.906T>C (p.Ser302=) c.956+5575T>C (n.956+5575T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48963123A>T | CA346767085 | FSHR | c.1698T>A (p.Ser566Arg) c.1620T>A (p.Ser540Arg) c.1800T>A (p.Ser600Arg) c.1467T>A (p.Ser489Arg) c.906T>A (p.Ser302Arg) c.956+5575T>A (n.956+5575T>A) | gnomAD v4 |
| 2 | g.48963124C>A | CA346767086 | FSHR | c.1697G>T (p.Ser566Ile) c.1619G>T (p.Ser540Ile) c.1799G>T (p.Ser600Ile) c.1466G>T (p.Ser489Ile) c.905G>T (p.Ser302Ile) c.956+5574G>T (n.956+5574G>T) | |
| 2 | g.48963124C= | CA1248751015 | FSHR | c.1697G= (p.Ser566=) c.1619G= (p.Ser540=) c.1799G= (p.Ser600=) c.1466G= (p.Ser489=) c.905G= (p.Ser302=) c.956+5574G= (n.956+5574G=) | |
| 2 | g.48963124C>G | CA346767087 | FSHR | c.1697G>C (p.Ser566Thr) c.1619G>C (p.Ser540Thr) c.1799G>C (p.Ser600Thr) c.1466G>C (p.Ser489Thr) c.905G>C (p.Ser302Thr) c.956+5574G>C (n.956+5574G>C) | dbSNP |
| 2 | g.48963124C>T | CA346767088 | FSHR | c.1697G>A (p.Ser566Asn) c.1619G>A (p.Ser540Asn) c.1799G>A (p.Ser600Asn) c.1466G>A (p.Ser489Asn) c.905G>A (p.Ser302Asn) c.956+5574G>A (n.956+5574G>A) | COSMIC |
| 2 | g.48963125T>A | CA346767091 | FSHR | c.1696A>T (p.Ser566Cys) c.1618A>T (p.Ser540Cys) c.1798A>T (p.Ser600Cys) c.1465A>T (p.Ser489Cys) c.904A>T (p.Ser302Cys) c.956+5573A>T (n.956+5573A>T) | |
| 2 | g.48963125T>C | CA346767090 | FSHR | c.1696A>G (p.Ser566Gly) c.1618A>G (p.Ser540Gly) c.1798A>G (p.Ser600Gly) c.1465A>G (p.Ser489Gly) c.904A>G (p.Ser302Gly) c.956+5573A>G (n.956+5573A>G) | |
| 2 | g.48963125T>G | CA346767089 | FSHR | c.1696A>C (p.Ser566Arg) c.1618A>C (p.Ser540Arg) c.1798A>C (p.Ser600Arg) c.1465A>C (p.Ser489Arg) c.904A>C (p.Ser302Arg) c.956+5573A>C (n.956+5573A>C) | |
| 2 | g.48963126A= | CA1248751016 | FSHR | c.1695T= (p.Ser565=) c.1617T= (p.Ser539=) c.1797T= (p.Ser599=) c.1464T= (p.Ser488=) c.903T= (p.Ser301=) c.956+5572T= (n.956+5572T=) | |
| 2 | g.48963126A>C | CA426124765 | FSHR | c.1695T>G (p.Ser565=) c.1617T>G (p.Ser539=) c.1797T>G (p.Ser599=) c.1464T>G (p.Ser488=) c.903T>G (p.Ser301=) c.956+5572T>G (n.956+5572T>G) | |
| 2 | g.48963126A>G | CA1653607 | FSHR | c.1695T>C (p.Ser565=) c.1617T>C (p.Ser539=) c.1797T>C (p.Ser599=) c.1464T>C (p.Ser488=) c.903T>C (p.Ser301=) c.956+5572T>C (n.956+5572T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.48963126A>T | CA426124766 | FSHR | c.1695T>A (p.Ser565=) c.1617T>A (p.Ser539=) c.1797T>A (p.Ser599=) c.1464T>A (p.Ser488=) c.903T>A (p.Ser301=) c.956+5572T>A (n.956+5572T>A) | |
| 2 | g.48963127G>A | CA346767092 | FSHR | c.1694C>T (p.Ser565Phe) c.1616C>T (p.Ser539Phe) c.1796C>T (p.Ser599Phe) c.1463C>T (p.Ser488Phe) c.902C>T (p.Ser301Phe) c.956+5571C>T (n.956+5571C>T) | gnomAD v4 |
| 2 | g.48963127G>C | CA346767093 | FSHR | c.1694C>G (p.Ser565Cys) c.1616C>G (p.Ser539Cys) c.1796C>G (p.Ser599Cys) c.1463C>G (p.Ser488Cys) c.902C>G (p.Ser301Cys) c.956+5571C>G (n.956+5571C>G) | |
| 2 | g.48963127G>T | CA346767094 | FSHR | c.1694C>A (p.Ser565Tyr) c.1616C>A (p.Ser539Tyr) c.1796C>A (p.Ser599Tyr) c.1463C>A (p.Ser488Tyr) c.902C>A (p.Ser301Tyr) c.956+5571C>A (n.956+5571C>A) | |
| 2 | g.48963128A>C | CA346767095 | FSHR | c.1693T>G (p.Ser565Ala) c.1615T>G (p.Ser539Ala) c.1795T>G (p.Ser599Ala) c.1462T>G (p.Ser488Ala) c.901T>G (p.Ser301Ala) c.956+5570T>G (n.956+5570T>G) | |
| 2 | g.48963128A>G | CA346767096 | FSHR | c.1693T>C (p.Ser565Pro) c.1615T>C (p.Ser539Pro) c.1795T>C (p.Ser599Pro) c.1462T>C (p.Ser488Pro) c.901T>C (p.Ser301Pro) c.956+5570T>C (n.956+5570T>C) | |
| 2 | g.48963128A>T | CA346767097 | FSHR | c.1693T>A (p.Ser565Thr) c.1615T>A (p.Ser539Thr) c.1795T>A (p.Ser599Thr) c.1462T>A (p.Ser488Thr) c.901T>A (p.Ser301Thr) c.956+5570T>A (n.956+5570T>A) | |
| 2 | g.48963129G>A | CA426124767 | FSHR | c.1692C>T (p.Ser564=) c.1614C>T (p.Ser538=) c.1794C>T (p.Ser598=) c.1461C>T (p.Ser487=) c.900C>T (p.Ser300=) c.956+5569C>T (n.956+5569C>T) | |
| 2 | g.48963129G>C | CA426124768 | FSHR | c.1692C>G (p.Ser564=) c.1614C>G (p.Ser538=) c.1794C>G (p.Ser598=) c.1461C>G (p.Ser487=) c.900C>G (p.Ser300=) c.956+5569C>G (n.956+5569C>G) | |
| 2 | g.48963129G>T | CA426124769 | FSHR | c.1692C>A (p.Ser564=) c.1614C>A (p.Ser538=) c.1794C>A (p.Ser598=) c.1461C>A (p.Ser487=) c.900C>A (p.Ser300=) c.956+5569C>A (n.956+5569C>A) | |
| 2 | g.48963130G>A | CA346767098 | FSHR | c.1691C>T (p.Ser564Phe) c.1613C>T (p.Ser538Phe) c.1793C>T (p.Ser598Phe) c.1460C>T (p.Ser487Phe) c.899C>T (p.Ser300Phe) c.956+5568C>T (n.956+5568C>T) | |
| 2 | g.48963130G>C | CA346767099 | FSHR | c.1691C>G (p.Ser564Cys) c.1613C>G (p.Ser538Cys) c.1793C>G (p.Ser598Cys) c.1460C>G (p.Ser487Cys) c.899C>G (p.Ser300Cys) c.956+5568C>G (n.956+5568C>G) | |
| 2 | g.48963130G>T | CA346767100 | FSHR | c.1691C>A (p.Ser564Tyr) c.1613C>A (p.Ser538Tyr) c.1793C>A (p.Ser598Tyr) c.1460C>A (p.Ser487Tyr) c.899C>A (p.Ser300Tyr) c.956+5568C>A (n.956+5568C>A) | |
| 2 | g.48963131A= | CA1248751017 | FSHR | c.1690T= (p.Ser564=) c.1612T= (p.Ser538=) c.1792T= (p.Ser598=) c.1459T= (p.Ser487=) c.898T= (p.Ser300=) c.956+5567T= (n.956+5567T=) | |
| 2 | g.48963131A>C | CA346767101 | FSHR | c.1690T>G (p.Ser564Ala) c.1612T>G (p.Ser538Ala) c.1792T>G (p.Ser598Ala) c.1459T>G (p.Ser487Ala) c.898T>G (p.Ser300Ala) c.956+5567T>G (n.956+5567T>G) | |
| 2 | g.48963131A>G | CA346767102 | FSHR | c.1690T>C (p.Ser564Pro) c.1612T>C (p.Ser538Pro) c.1792T>C (p.Ser598Pro) c.1459T>C (p.Ser487Pro) c.898T>C (p.Ser300Pro) c.956+5567T>C (n.956+5567T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.48963131A>T | CA346767103 | FSHR | c.1690T>A (p.Ser564Thr) c.1612T>A (p.Ser538Thr) c.1792T>A (p.Ser598Thr) c.1459T>A (p.Ser487Thr) c.898T>A (p.Ser300Thr) c.956+5567T>A (n.956+5567T>A) | |
| 2 | g.48963132G>A | CA426124771 | FSHR | c.1689C>T (p.Ser563=) c.1611C>T (p.Ser537=) c.1791C>T (p.Ser597=) c.1458C>T (p.Ser486=) c.897C>T (p.Ser299=) c.956+5566C>T (n.956+5566C>T) | |
| 2 | g.48963132G>C | CA426124772 | FSHR | c.1689C>G (p.Ser563=) c.1611C>G (p.Ser537=) c.1791C>G (p.Ser597=) c.1458C>G (p.Ser486=) c.897C>G (p.Ser299=) c.956+5566C>G (n.956+5566C>G) | |
| 2 | g.48963132G>T | CA426124773 | FSHR | c.1689C>A (p.Ser563=) c.1611C>A (p.Ser537=) c.1791C>A (p.Ser597=) c.1458C>A (p.Ser486=) c.897C>A (p.Ser299=) c.956+5566C>A (n.956+5566C>A) | |
| 2 | g.48963133G>A | CA1653608 | FSHR | c.1688C>T (p.Ser563Phe) c.1610C>T (p.Ser537Phe) c.1790C>T (p.Ser597Phe) c.1457C>T (p.Ser486Phe) c.896C>T (p.Ser299Phe) c.956+5565C>T (n.956+5565C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48963133G>C | CA346767105 | FSHR | c.1688C>G (p.Ser563Cys) c.1610C>G (p.Ser537Cys) c.1790C>G (p.Ser597Cys) c.1457C>G (p.Ser486Cys) c.896C>G (p.Ser299Cys) c.956+5565C>G (n.956+5565C>G) | |
| 2 | g.48963133G= | CA1248751018 | FSHR | c.1688C= (p.Ser563=) c.1610C= (p.Ser537=) c.1790C= (p.Ser597=) c.1457C= (p.Ser486=) c.896C= (p.Ser299=) c.956+5565C= (n.956+5565C=) | |
| 2 | g.48963133G>T | CA346767104 | FSHR | c.1688C>A (p.Ser563Tyr) c.1610C>A (p.Ser537Tyr) c.1790C>A (p.Ser597Tyr) c.1457C>A (p.Ser486Tyr) c.896C>A (p.Ser299Tyr) c.956+5565C>A (n.956+5565C>A) | gnomAD v4 |
| 2 | g.48963134A>C | CA346767106 | FSHR | c.1687T>G (p.Ser563Ala) c.1609T>G (p.Ser537Ala) c.1789T>G (p.Ser597Ala) c.1456T>G (p.Ser486Ala) c.895T>G (p.Ser299Ala) c.956+5564T>G (n.956+5564T>G) | |
| 2 | g.48963134A>G | CA346767107 | FSHR | c.1687T>C (p.Ser563Pro) c.1609T>C (p.Ser537Pro) c.1789T>C (p.Ser597Pro) c.1456T>C (p.Ser486Pro) c.895T>C (p.Ser299Pro) c.956+5564T>C (n.956+5564T>C) | |
| 2 | g.48963134A>T | CA346767108 | FSHR | c.1687T>A (p.Ser563Thr) c.1609T>A (p.Ser537Thr) c.1789T>A (p.Ser597Thr) c.1456T>A (p.Ser486Thr) c.895T>A (p.Ser299Thr) c.956+5564T>A (n.956+5564T>A) | |
| 2 | g.48963135C>A | CA426124775 | FSHR | c.1686G>T (p.Val562=) c.1608G>T (p.Val536=) c.1788G>T (p.Val596=) c.1455G>T (p.Val485=) c.894G>T (p.Val298=) c.956+5563G>T (n.956+5563G>T) | |
| 2 | g.48963135C= | CA1248751019 | FSHR | c.1686G= (p.Val562=) c.1608G= (p.Val536=) c.1788G= (p.Val596=) c.1455G= (p.Val485=) c.894G= (p.Val298=) c.956+5563G= (n.956+5563G=) | |
| 2 | g.48963135C>G | CA426124776 | FSHR | c.1686G>C (p.Val562=) c.1608G>C (p.Val536=) c.1788G>C (p.Val596=) c.1455G>C (p.Val485=) c.894G>C (p.Val298=) c.956+5563G>C (n.956+5563G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.48963135C>T | CA426124777 | FSHR | c.1686G>A (p.Val562=) c.1608G>A (p.Val536=) c.1788G>A (p.Val596=) c.1455G>A (p.Val485=) c.894G>A (p.Val298=) c.956+5563G>A (n.956+5563G>A) | gnomAD v4 |
| 2 | g.48963136A>C | CA346767109 | FSHR | c.1685T>G (p.Val562Gly) c.1607T>G (p.Val536Gly) c.1787T>G (p.Val596Gly) c.1454T>G (p.Val485Gly) c.893T>G (p.Val298Gly) c.956+5562T>G (n.956+5562T>G) | gnomAD v4 |