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 |
|---|---|---|---|---|---|
| 12 | g.109792393_109792396delinsAGAC | CA2062564241 | TRPV4 | c.1858_1861delinsGTCT (p.Val620=) c.*945_*948delinsGTCT (n.*945_*948delinsGTCT) n.1889_1892delinsGTCT c.1756_1759delinsGTCT (p.Val586=) c.1678_1681delinsGTCT (p.Val560=) c.*241_*244delinsGTCT (n.*241_*244delinsGTCT) c.1717_1720delinsGTCT (p.Val573=) c.1537_1540delinsGTCT (p.Val513=) c.2011_2014delinsGTCT (p.Val671=) c.1870_1873delinsGTCT (p.Val624=) c.1831_1834delinsGTCT (p.Val611=) c.1690_1693delinsGTCT (p.Val564=) | |
| 12 | g.109792394_109792410del | CA2575286291 | TRPV4 | c.1845_1861del (p.Phe615LeufsTer27) c.*932_*948del (n.*932_*948del) n.1876_1892del c.1743_1759del (p.Phe581LeufsTer27) c.1665_1681del (p.Phe555LeufsTer27) c.*228_*244del (n.*228_*244del) c.1704_1720del (p.Phe568LeufsTer27) c.1524_1540del (p.Phe508LeufsTer27) c.1998_2014del (p.Phe666LeufsTer?) c.1998_2014del (p.Phe666LeufsTer27) c.1857_1873del (p.Phe619LeufsTer27) c.1818_1834del (p.Phe606LeufsTer27) c.1677_1693del (p.Phe559LeufsTer27) | |
| 12 | g.109792396_109792398del | CA2062564244 | TRPV4 | c.1858_1860del (p.Val620del) c.*945_*947del (n.*945_*947del) n.1889_1891del c.1756_1758del (p.Val586del) c.1678_1680del (p.Val560del) c.*241_*243del (n.*241_*243del) c.1717_1719del (p.Val573del) c.1537_1539del (p.Val513del) c.2011_2013del (p.Val671del) c.1870_1872del (p.Val624del) c.1831_1833del (p.Val611del) c.1690_1692del (p.Val564del) | dbSNP |
| 12 | g.109792396C>A | CA386651783 | TRPV4 | c.1858G>T (p.Val620Phe) c.*945G>T (n.*945G>T) n.1889G>T c.1756G>T (p.Val586Phe) c.1678G>T (p.Val560Phe) c.*241G>T (n.*241G>T) c.1717G>T (p.Val573Phe) c.1537G>T (p.Val513Phe) c.2011G>T (p.Val671Phe) c.1870G>T (p.Val624Phe) c.1831G>T (p.Val611Phe) c.1690G>T (p.Val564Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109792396C= | CA2062564249 | TRPV4 | c.1858G= (p.Val620=) c.*945G= (n.*945G=) n.1889G= c.1756G= (p.Val586=) c.1678G= (p.Val560=) c.*241G= (n.*241G=) c.1717G= (p.Val573=) c.1537G= (p.Val513=) c.2011G= (p.Val671=) c.1870G= (p.Val624=) c.1831G= (p.Val611=) c.1690G= (p.Val564=) | |
| 12 | g.109792396C>G | CA386651782 | TRPV4 | c.1858G>C (p.Val620Leu) c.*945G>C (n.*945G>C) n.1889G>C c.1756G>C (p.Val586Leu) c.1678G>C (p.Val560Leu) c.*241G>C (n.*241G>C) c.1717G>C (p.Val573Leu) c.1537G>C (p.Val513Leu) c.2011G>C (p.Val671Leu) c.1870G>C (p.Val624Leu) c.1831G>C (p.Val611Leu) c.1690G>C (p.Val564Leu) | gnomAD v4 |
| 12 | g.109792396C>T | CA117166 | TRPV4 | c.1858G>A (p.Val620Ile) c.*945G>A (n.*945G>A) n.1889G>A c.1756G>A (p.Val586Ile) c.1678G>A (p.Val560Ile) c.*241G>A (n.*241G>A) c.1717G>A (p.Val573Ile) c.1537G>A (p.Val513Ile) c.2011G>A (p.Val671Ile) c.1870G>A (p.Val624Ile) c.1831G>A (p.Val611Ile) c.1690G>A (p.Val564Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109792397G>A | CA6780077 | TRPV4 | c.1857C>T (p.Leu619=) c.*944C>T (n.*944C>T) n.1888C>T c.1755C>T (p.Leu585=) c.1677C>T (p.Leu559=) c.*240C>T (n.*240C>T) c.1716C>T (p.Leu572=) c.1536C>T (p.Leu512=) c.2010C>T (p.Leu670=) c.1869C>T (p.Leu623=) c.1830C>T (p.Leu610=) c.1689C>T (p.Leu563=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109792397G>C | CA481724341 | TRPV4 | c.1857C>G (p.Leu619=) c.*944C>G (n.*944C>G) n.1888C>G c.1755C>G (p.Leu585=) c.1677C>G (p.Leu559=) c.*240C>G (n.*240C>G) c.1716C>G (p.Leu572=) c.1536C>G (p.Leu512=) c.2010C>G (p.Leu670=) c.1869C>G (p.Leu623=) c.1830C>G (p.Leu610=) c.1689C>G (p.Leu563=) | gnomAD v4 |
| 12 | g.109792397G= | CA2062564257 | TRPV4 | c.1857C= (p.Leu619=) c.*944C= (n.*944C=) n.1888C= c.1755C= (p.Leu585=) c.1677C= (p.Leu559=) c.*240C= (n.*240C=) c.1716C= (p.Leu572=) c.1536C= (p.Leu512=) c.2010C= (p.Leu670=) c.1869C= (p.Leu623=) c.1830C= (p.Leu610=) c.1689C= (p.Leu563=) | |
| 12 | g.109792397G>T | CA481724342 | TRPV4 | c.1857C>A (p.Leu619=) c.*944C>A (n.*944C>A) n.1888C>A c.1755C>A (p.Leu585=) c.1677C>A (p.Leu559=) c.*240C>A (n.*240C>A) c.1716C>A (p.Leu572=) c.1536C>A (p.Leu512=) c.2010C>A (p.Leu670=) c.1869C>A (p.Leu623=) c.1830C>A (p.Leu610=) c.1689C>A (p.Leu563=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109792397_109792398delinsAG | CA2695217259 | TRPV4 | c.1856_1857delinsCT (p.Leu619Pro) c.*943_*944delinsCT (n.*943_*944delinsCT) n.1887_1888delinsCT c.1754_1755delinsCT (p.Leu585Pro) c.1676_1677delinsCT (p.Leu559Pro) c.*239_*240delinsCT (n.*239_*240delinsCT) c.1715_1716delinsCT (p.Leu572Pro) c.1535_1536delinsCT (p.Leu512Pro) c.2009_2010delinsCT (p.Leu670Pro) c.1868_1869delinsCT (p.Leu623Pro) c.1829_1830delinsCT (p.Leu610Pro) c.1688_1689delinsCT (p.Leu563Pro) | |
| 12 | g.109792398A>C | CA386651784 | TRPV4 | c.1856T>G (p.Leu619Arg) c.*943T>G (n.*943T>G) n.1887T>G c.1754T>G (p.Leu585Arg) c.1676T>G (p.Leu559Arg) c.*239T>G (n.*239T>G) c.1715T>G (p.Leu572Arg) c.1535T>G (p.Leu512Arg) c.2009T>G (p.Leu670Arg) c.1868T>G (p.Leu623Arg) c.1829T>G (p.Leu610Arg) c.1688T>G (p.Leu563Arg) | |
| 12 | g.109792398A>G | CA386651785 | TRPV4 | c.1856T>C (p.Leu619Pro) c.*943T>C (n.*943T>C) n.1887T>C c.1754T>C (p.Leu585Pro) c.1676T>C (p.Leu559Pro) c.*239T>C (n.*239T>C) c.1715T>C (p.Leu572Pro) c.1535T>C (p.Leu512Pro) c.2009T>C (p.Leu670Pro) c.1868T>C (p.Leu623Pro) c.1829T>C (p.Leu610Pro) c.1688T>C (p.Leu563Pro) | |
| 12 | g.109792398A>T | CA386651786 | TRPV4 | c.1856T>A (p.Leu619His) c.*943T>A (n.*943T>A) n.1887T>A c.1754T>A (p.Leu585His) c.1676T>A (p.Leu559His) c.*239T>A (n.*239T>A) c.1715T>A (p.Leu572His) c.1535T>A (p.Leu512His) c.2009T>A (p.Leu670His) c.1868T>A (p.Leu623His) c.1829T>A (p.Leu610His) c.1688T>A (p.Leu563His) | |
| 12 | g.109792399G>A | CA386651787 | TRPV4 | c.1855C>T (p.Leu619Phe) c.*942C>T (n.*942C>T) n.1886C>T c.1753C>T (p.Leu585Phe) c.1675C>T (p.Leu559Phe) c.*238C>T (n.*238C>T) c.1714C>T (p.Leu572Phe) c.1534C>T (p.Leu512Phe) c.2008C>T (p.Leu670Phe) c.1867C>T (p.Leu623Phe) c.1828C>T (p.Leu610Phe) c.1687C>T (p.Leu563Phe) | |
| 12 | g.109792399G>C | CA386651788 | TRPV4 | c.1855C>G (p.Leu619Val) c.*942C>G (n.*942C>G) n.1886C>G c.1753C>G (p.Leu585Val) c.1675C>G (p.Leu559Val) c.*238C>G (n.*238C>G) c.1714C>G (p.Leu572Val) c.1534C>G (p.Leu512Val) c.2008C>G (p.Leu670Val) c.1867C>G (p.Leu623Val) c.1828C>G (p.Leu610Val) c.1687C>G (p.Leu563Val) | |
| 12 | g.109792399G>T | CA386651790 | TRPV4 | c.1855C>A (p.Leu619Ile) c.*942C>A (n.*942C>A) n.1886C>A c.1753C>A (p.Leu585Ile) c.1675C>A (p.Leu559Ile) c.*238C>A (n.*238C>A) c.1714C>A (p.Leu572Ile) c.1534C>A (p.Leu512Ile) c.2008C>A (p.Leu670Ile) c.1867C>A (p.Leu623Ile) c.1828C>A (p.Leu610Ile) c.1687C>A (p.Leu563Ile) | |
| 12 | g.109792400C>A | CA481724343 | TRPV4 | c.1854G>T (p.Leu618=) c.*941G>T (n.*941G>T) n.1885G>T c.1752G>T (p.Leu584=) c.1674G>T (p.Leu558=) c.*237G>T (n.*237G>T) c.1713G>T (p.Leu571=) c.1533G>T (p.Leu511=) c.2007G>T (p.Leu669=) c.1866G>T (p.Leu622=) c.1827G>T (p.Leu609=) c.1686G>T (p.Leu562=) | gnomAD v4 |
| 12 | g.109792400C>G | CA481724344 | TRPV4 | c.1854G>C (p.Leu618=) c.*941G>C (n.*941G>C) n.1885G>C c.1752G>C (p.Leu584=) c.1674G>C (p.Leu558=) c.*237G>C (n.*237G>C) c.1713G>C (p.Leu571=) c.1533G>C (p.Leu511=) c.2007G>C (p.Leu669=) c.1866G>C (p.Leu622=) c.1827G>C (p.Leu609=) c.1686G>C (p.Leu562=) | |
| 12 | g.109792400C>T | CA481724345 | TRPV4 | c.1854G>A (p.Leu618=) c.*941G>A (n.*941G>A) n.1885G>A c.1752G>A (p.Leu584=) c.1674G>A (p.Leu558=) c.*237G>A (n.*237G>A) c.1713G>A (p.Leu571=) c.1533G>A (p.Leu511=) c.2007G>A (p.Leu669=) c.1866G>A (p.Leu622=) c.1827G>A (p.Leu609=) c.1686G>A (p.Leu562=) | |
| 12 | g.109792401A= | CA2062564261 | TRPV4 | c.1853T= (p.Leu618=) c.*940T= (n.*940T=) n.1884T= c.1751T= (p.Leu584=) c.1673T= (p.Leu558=) c.*236T= (n.*236T=) c.1712T= (p.Leu571=) c.1532T= (p.Leu511=) c.2006T= (p.Leu669=) c.1865T= (p.Leu622=) c.1826T= (p.Leu609=) c.1685T= (p.Leu562=) | |
| 12 | g.109792401A>C | CA386651791 | TRPV4 | c.1853T>G (p.Leu618Arg) c.*940T>G (n.*940T>G) n.1884T>G c.1751T>G (p.Leu584Arg) c.1673T>G (p.Leu558Arg) c.*236T>G (n.*236T>G) c.1712T>G (p.Leu571Arg) c.1532T>G (p.Leu511Arg) c.2006T>G (p.Leu669Arg) c.1865T>G (p.Leu622Arg) c.1826T>G (p.Leu609Arg) c.1685T>G (p.Leu562Arg) | |
| 12 | g.109792401A>G | CA347744 | TRPV4 | c.1853T>C (p.Leu618Pro) c.*940T>C (n.*940T>C) n.1884T>C c.1751T>C (p.Leu584Pro) c.1673T>C (p.Leu558Pro) c.*236T>C (n.*236T>C) c.1712T>C (p.Leu571Pro) c.1532T>C (p.Leu511Pro) c.2006T>C (p.Leu669Pro) c.1865T>C (p.Leu622Pro) c.1826T>C (p.Leu609Pro) c.1685T>C (p.Leu562Pro) | ClinVar dbSNP |
| 12 | g.109792401A>T | CA386651793 | TRPV4 | c.1853T>A (p.Leu618Gln) c.*940T>A (n.*940T>A) n.1884T>A c.1751T>A (p.Leu584Gln) c.1673T>A (p.Leu558Gln) c.*236T>A (n.*236T>A) c.1712T>A (p.Leu571Gln) c.1532T>A (p.Leu511Gln) c.2006T>A (p.Leu669Gln) c.1865T>A (p.Leu622Gln) c.1826T>A (p.Leu609Gln) c.1685T>A (p.Leu562Gln) | |
| 12 | g.109792402G>A | CA481724346 | TRPV4 | c.1852C>T (p.Leu618=) c.*939C>T (n.*939C>T) n.1883C>T c.1750C>T (p.Leu584=) c.1672C>T (p.Leu558=) c.*235C>T (n.*235C>T) c.1711C>T (p.Leu571=) c.1531C>T (p.Leu511=) c.2005C>T (p.Leu669=) c.1864C>T (p.Leu622=) c.1825C>T (p.Leu609=) c.1684C>T (p.Leu562=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109792402G>C | CA386651795 | TRPV4 | c.1852C>G (p.Leu618Val) c.*939C>G (n.*939C>G) n.1883C>G c.1750C>G (p.Leu584Val) c.1672C>G (p.Leu558Val) c.*235C>G (n.*235C>G) c.1711C>G (p.Leu571Val) c.1531C>G (p.Leu511Val) c.2005C>G (p.Leu669Val) c.1864C>G (p.Leu622Val) c.1825C>G (p.Leu609Val) c.1684C>G (p.Leu562Val) | |
| 12 | g.109792402G= | CA2062564266 | TRPV4 | c.1852C= (p.Leu618=) c.*939C= (n.*939C=) n.1883C= c.1750C= (p.Leu584=) c.1672C= (p.Leu558=) c.*235C= (n.*235C=) c.1711C= (p.Leu571=) c.1531C= (p.Leu511=) c.2005C= (p.Leu669=) c.1864C= (p.Leu622=) c.1825C= (p.Leu609=) c.1684C= (p.Leu562=) | |
| 12 | g.109792402G>T | CA386651796 | TRPV4 | c.1852C>A (p.Leu618Met) c.*939C>A (n.*939C>A) n.1883C>A c.1750C>A (p.Leu584Met) c.1672C>A (p.Leu558Met) c.*235C>A (n.*235C>A) c.1711C>A (p.Leu571Met) c.1531C>A (p.Leu511Met) c.2005C>A (p.Leu669Met) c.1864C>A (p.Leu622Met) c.1825C>A (p.Leu609Met) c.1684C>A (p.Leu562Met) | |
| 12 | g.109792403G>A | CA481724347 | TRPV4 | c.1851C>T (p.Phe617=) c.*938C>T (n.*938C>T) n.1882C>T c.1749C>T (p.Phe583=) c.1671C>T (p.Phe557=) c.*234C>T (n.*234C>T) c.1710C>T (p.Phe570=) c.1530C>T (p.Phe510=) c.2004C>T (p.Phe668=) c.1863C>T (p.Phe621=) c.1824C>T (p.Phe608=) c.1683C>T (p.Phe561=) | |
| 12 | g.109792403G>C | CA386651798 | TRPV4 | c.1851C>G (p.Phe617Leu) c.*938C>G (n.*938C>G) n.1882C>G c.1749C>G (p.Phe583Leu) c.1671C>G (p.Phe557Leu) c.*234C>G (n.*234C>G) c.1710C>G (p.Phe570Leu) c.1530C>G (p.Phe510Leu) c.2004C>G (p.Phe668Leu) c.1863C>G (p.Phe621Leu) c.1824C>G (p.Phe608Leu) c.1683C>G (p.Phe561Leu) | |
| 12 | g.109792403G= | CA2062564273 | TRPV4 | c.1851C= (p.Phe617=) c.*938C= (n.*938C=) n.1882C= c.1749C= (p.Phe583=) c.1671C= (p.Phe557=) c.*234C= (n.*234C=) c.1710C= (p.Phe570=) c.1530C= (p.Phe510=) c.2004C= (p.Phe668=) c.1863C= (p.Phe621=) c.1824C= (p.Phe608=) c.1683C= (p.Phe561=) | |
| 12 | g.109792403G>T | CA347704 | TRPV4 | c.1851C>A (p.Phe617Leu) c.*938C>A (n.*938C>A) n.1882C>A c.1749C>A (p.Phe583Leu) c.1671C>A (p.Phe557Leu) c.*234C>A (n.*234C>A) c.1710C>A (p.Phe570Leu) c.1530C>A (p.Phe510Leu) c.2004C>A (p.Phe668Leu) c.1863C>A (p.Phe621Leu) c.1824C>A (p.Phe608Leu) c.1683C>A (p.Phe561Leu) | ClinVar dbSNP |
| 12 | g.109792404A>C | CA386651799 | TRPV4 | c.1850T>G (p.Phe617Cys) c.*937T>G (n.*937T>G) n.1881T>G c.1748T>G (p.Phe583Cys) c.1670T>G (p.Phe557Cys) c.*233T>G (n.*233T>G) c.1709T>G (p.Phe570Cys) c.1529T>G (p.Phe510Cys) c.2003T>G (p.Phe668Cys) c.1862T>G (p.Phe621Cys) c.1823T>G (p.Phe608Cys) c.1682T>G (p.Phe561Cys) | |
| 12 | g.109792404A>G | CA386651801 | TRPV4 | c.1850T>C (p.Phe617Ser) c.*937T>C (n.*937T>C) n.1881T>C c.1748T>C (p.Phe583Ser) c.1670T>C (p.Phe557Ser) c.*233T>C (n.*233T>C) c.1709T>C (p.Phe570Ser) c.1529T>C (p.Phe510Ser) c.2003T>C (p.Phe668Ser) c.1862T>C (p.Phe621Ser) c.1823T>C (p.Phe608Ser) c.1682T>C (p.Phe561Ser) | |
| 12 | g.109792404A>T | CA386651800 | TRPV4 | c.1850T>A (p.Phe617Tyr) c.*937T>A (n.*937T>A) n.1881T>A c.1748T>A (p.Phe583Tyr) c.1670T>A (p.Phe557Tyr) c.*233T>A (n.*233T>A) c.1709T>A (p.Phe570Tyr) c.1529T>A (p.Phe510Tyr) c.2003T>A (p.Phe668Tyr) c.1862T>A (p.Phe621Tyr) c.1823T>A (p.Phe608Tyr) c.1682T>A (p.Phe561Tyr) | |
| 12 | g.109792405A>C | CA386651802 | TRPV4 | c.1849T>G (p.Phe617Val) c.*936T>G (n.*936T>G) n.1880T>G c.1747T>G (p.Phe583Val) c.1669T>G (p.Phe557Val) c.*232T>G (n.*232T>G) c.1708T>G (p.Phe570Val) c.1528T>G (p.Phe510Val) c.2002T>G (p.Phe668Val) c.1861T>G (p.Phe621Val) c.1822T>G (p.Phe608Val) c.1681T>G (p.Phe561Val) | |
| 12 | g.109792405A>G | CA386651803 | TRPV4 | c.1849T>C (p.Phe617Leu) c.*936T>C (n.*936T>C) n.1880T>C c.1747T>C (p.Phe583Leu) c.1669T>C (p.Phe557Leu) c.*232T>C (n.*232T>C) c.1708T>C (p.Phe570Leu) c.1528T>C (p.Phe510Leu) c.2002T>C (p.Phe668Leu) c.1861T>C (p.Phe621Leu) c.1822T>C (p.Phe608Leu) c.1681T>C (p.Phe561Leu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109792405A>T | CA386651804 | TRPV4 | c.1849T>A (p.Phe617Ile) c.*936T>A (n.*936T>A) n.1880T>A c.1747T>A (p.Phe583Ile) c.1669T>A (p.Phe557Ile) c.*232T>A (n.*232T>A) c.1708T>A (p.Phe570Ile) c.1528T>A (p.Phe510Ile) c.2002T>A (p.Phe668Ile) c.1861T>A (p.Phe621Ile) c.1822T>A (p.Phe608Ile) c.1681T>A (p.Phe561Ile) | |
| 12 | g.109792406T>A | CA481724349 | TRPV4 | c.1848A>T (p.Arg616=) c.*935A>T (n.*935A>T) n.1879A>T c.1746A>T (p.Arg582=) c.1668A>T (p.Arg556=) c.*231A>T (n.*231A>T) c.1707A>T (p.Arg569=) c.1527A>T (p.Arg509=) c.2001A>T (p.Arg667=) c.1860A>T (p.Arg620=) c.1821A>T (p.Arg607=) c.1680A>T (p.Arg560=) | |
| 12 | g.109792406T>C | CA481724350 | TRPV4 | c.1848A>G (p.Arg616=) c.*935A>G (n.*935A>G) n.1879A>G c.1746A>G (p.Arg582=) c.1668A>G (p.Arg556=) c.*231A>G (n.*231A>G) c.1707A>G (p.Arg569=) c.1527A>G (p.Arg509=) c.2001A>G (p.Arg667=) c.1860A>G (p.Arg620=) c.1821A>G (p.Arg607=) c.1680A>G (p.Arg560=) | |
| 12 | g.109792406T>G | CA481724352 | TRPV4 | c.1848A>C (p.Arg616=) c.*935A>C (n.*935A>C) n.1879A>C c.1746A>C (p.Arg582=) c.1668A>C (p.Arg556=) c.*231A>C (n.*231A>C) c.1707A>C (p.Arg569=) c.1527A>C (p.Arg509=) c.2001A>C (p.Arg667=) c.1860A>C (p.Arg620=) c.1821A>C (p.Arg607=) c.1680A>C (p.Arg560=) | |
| 12 | g.109792407C>A | CA386651805 | TRPV4 | c.1847G>T (p.Arg616Leu) c.*934G>T (n.*934G>T) n.1878G>T c.1745G>T (p.Arg582Leu) c.1667G>T (p.Arg556Leu) c.*230G>T (n.*230G>T) c.1706G>T (p.Arg569Leu) c.1526G>T (p.Arg509Leu) c.2000G>T (p.Arg667Leu) c.1859G>T (p.Arg620Leu) c.1820G>T (p.Arg607Leu) c.1679G>T (p.Arg560Leu) | COSMIC |
| 12 | g.109792407C= | CA2062564278 | TRPV4 | c.1847G= (p.Arg616=) c.*934G= (n.*934G=) n.1878G= c.1745G= (p.Arg582=) c.1667G= (p.Arg556=) c.*230G= (n.*230G=) c.1706G= (p.Arg569=) c.1526G= (p.Arg509=) c.2000G= (p.Arg667=) c.1859G= (p.Arg620=) c.1820G= (p.Arg607=) c.1679G= (p.Arg560=) | |
| 12 | g.109792407C>G | CA386651807 | TRPV4 | c.1847G>C (p.Arg616Pro) c.*934G>C (n.*934G>C) n.1878G>C c.1745G>C (p.Arg582Pro) c.1667G>C (p.Arg556Pro) c.*230G>C (n.*230G>C) c.1706G>C (p.Arg569Pro) c.1526G>C (p.Arg509Pro) c.2000G>C (p.Arg667Pro) c.1859G>C (p.Arg620Pro) c.1820G>C (p.Arg607Pro) c.1679G>C (p.Arg560Pro) | |
| 12 | g.109792407C>T | CA117164 | TRPV4 | c.1847G>A (p.Arg616Gln) c.*934G>A (n.*934G>A) n.1878G>A c.1745G>A (p.Arg582Gln) c.1667G>A (p.Arg556Gln) c.*230G>A (n.*230G>A) c.1706G>A (p.Arg569Gln) c.1526G>A (p.Arg509Gln) c.2000G>A (p.Arg667Gln) c.1859G>A (p.Arg620Gln) c.1820G>A (p.Arg607Gln) c.1679G>A (p.Arg560Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109792408G>A | CA6780078 | TRPV4 | c.1846C>T (p.Arg616Ter) c.*933C>T (n.*933C>T) n.1877C>T c.1744C>T (p.Arg582Ter) c.1666C>T (p.Arg556Ter) c.*229C>T (n.*229C>T) c.1705C>T (p.Arg569Ter) c.1525C>T (p.Arg509Ter) c.1999C>T (p.Arg667Ter) c.1858C>T (p.Arg620Ter) c.1819C>T (p.Arg607Ter) c.1678C>T (p.Arg560Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109792408G>C | CA386651810 | TRPV4 | c.1846C>G (p.Arg616Gly) c.*933C>G (n.*933C>G) n.1877C>G c.1744C>G (p.Arg582Gly) c.1666C>G (p.Arg556Gly) c.*229C>G (n.*229C>G) c.1705C>G (p.Arg569Gly) c.1525C>G (p.Arg509Gly) c.1999C>G (p.Arg667Gly) c.1858C>G (p.Arg620Gly) c.1819C>G (p.Arg607Gly) c.1678C>G (p.Arg560Gly) | |
| 12 | g.109792408G= | CA2062564287 | TRPV4 | c.1846C= (p.Arg616=) c.*933C= (n.*933C=) n.1877C= c.1744C= (p.Arg582=) c.1666C= (p.Arg556=) c.*229C= (n.*229C=) c.1705C= (p.Arg569=) c.1525C= (p.Arg509=) c.1999C= (p.Arg667=) c.1858C= (p.Arg620=) c.1819C= (p.Arg607=) c.1678C= (p.Arg560=) | |
| 12 | g.109792408G>T | CA481724355 | TRPV4 | c.1846C>A (p.Arg616=) c.*933C>A (n.*933C>A) n.1877C>A c.1744C>A (p.Arg582=) c.1666C>A (p.Arg556=) c.*229C>A (n.*229C>A) c.1705C>A (p.Arg569=) c.1525C>A (p.Arg509=) c.1999C>A (p.Arg667=) c.1858C>A (p.Arg620=) c.1819C>A (p.Arg607=) c.1678C>A (p.Arg560=) | dbSNP gnomAD v3 gnomAD v4 |