Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.17339746A>CCA366895496AHRc.1921A>C (p.Lys641Gln)
c.1891A>C (p.Lys631Gln)
c.1876A>C (p.Lys626Gln)
7g.17339746A>GCA366895498AHRc.1921A>G (p.Lys641Glu)
c.1891A>G (p.Lys631Glu)
c.1876A>G (p.Lys626Glu)
7g.17339746A>TCA366895497AHRc.1921A>T (p.Lys641Ter)
c.1891A>T (p.Lys631Ter)
c.1876A>T (p.Lys626Ter)
7g.17339747A>CCA366895499AHRc.1922A>C (p.Lys641Thr)
c.1892A>C (p.Lys631Thr)
c.1877A>C (p.Lys626Thr)
7g.17339747A>GCA366895500AHRc.1922A>G (p.Lys641Arg)
c.1892A>G (p.Lys631Arg)
c.1877A>G (p.Lys626Arg)
7g.17339747A>TCA366895501AHRc.1922A>T (p.Lys641Met)
c.1892A>T (p.Lys631Met)
c.1877A>T (p.Lys626Met)
7g.17339748G>ACA4172205AHRc.1923G>A (p.Lys641=)
c.1893G>A (p.Lys631=)
c.1878G>A (p.Lys626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339748G>CCA366895502AHRc.1923G>C (p.Lys641Asn)
c.1893G>C (p.Lys631Asn)
c.1878G>C (p.Lys626Asn)
7g.17339748G=CA1691323951AHRc.1923G= (p.Lys641=)
c.1893G= (p.Lys631=)
c.1878G= (p.Lys626=)
7g.17339748G>TCA366895503AHRc.1923G>T (p.Lys641Asn)
c.1893G>T (p.Lys631Asn)
c.1878G>T (p.Lys626Asn)
7g.17339749A=CA1691323952AHRc.1924A= (p.Met642=)
c.1894A= (p.Met632=)
c.1879A= (p.Met627=)
7g.17339749A>CCA366895504AHRc.1924A>C (p.Met642Leu)
c.1894A>C (p.Met632Leu)
c.1879A>C (p.Met627Leu)
7g.17339749A>GCA366895505AHRc.1924A>G (p.Met642Val)
c.1894A>G (p.Met632Val)
c.1879A>G (p.Met627Val)
 ClinVar dbSNP gnomAD v4
7g.17339749A>TCA366895506AHRc.1924A>T (p.Met642Leu)
c.1894A>T (p.Met632Leu)
c.1879A>T (p.Met627Leu)
 dbSNP
7g.17339750T>ACA366895507AHRc.1925T>A (p.Met642Lys)
c.1895T>A (p.Met632Lys)
c.1880T>A (p.Met627Lys)
7g.17339750T>CCA366895508AHRc.1925T>C (p.Met642Thr)
c.1895T>C (p.Met632Thr)
c.1880T>C (p.Met627Thr)
7g.17339750T>GCA366895509AHRc.1925T>G (p.Met642Arg)
c.1895T>G (p.Met632Arg)
c.1880T>G (p.Met627Arg)
7g.17339751G>ACA366895511AHRc.1926G>A (p.Met642Ile)
c.1896G>A (p.Met632Ile)
c.1881G>A (p.Met627Ile)
7g.17339751G>CCA366895512AHRc.1926G>C (p.Met642Ile)
c.1896G>C (p.Met632Ile)
c.1881G>C (p.Met627Ile)
7g.17339751G>TCA366895510AHRc.1926G>T (p.Met642Ile)
c.1896G>T (p.Met632Ile)
c.1881G>T (p.Met627Ile)
7g.17339752A=CA1691323953AHRc.1927A= (p.Lys643=)
c.1897A= (p.Lys633=)
c.1882A= (p.Lys628=)
7g.17339752A>CCA366895513AHRc.1927A>C (p.Lys643Gln)
c.1897A>C (p.Lys633Gln)
c.1882A>C (p.Lys628Gln)
7g.17339752A>GCA366895514AHRc.1927A>G (p.Lys643Glu)
c.1897A>G (p.Lys633Glu)
c.1882A>G (p.Lys628Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.17339752A>TCA366895515AHRc.1927A>T (p.Lys643Ter)
c.1897A>T (p.Lys633Ter)
c.1882A>T (p.Lys628Ter)
7g.17339753A>CCA366895516AHRc.1928A>C (p.Lys643Thr)
c.1898A>C (p.Lys633Thr)
c.1883A>C (p.Lys628Thr)
7g.17339753A>GCA366895517AHRc.1928A>G (p.Lys643Arg)
c.1898A>G (p.Lys633Arg)
c.1883A>G (p.Lys628Arg)
7g.17339753A>TCA366895518AHRc.1928A>T (p.Lys643Met)
c.1898A>T (p.Lys633Met)
c.1883A>T (p.Lys628Met)
7g.17339754G>ACA454134244AHRc.1929G>A (p.Lys643=)
c.1899G>A (p.Lys633=)
c.1884G>A (p.Lys628=)
 gnomAD v4
7g.17339754G>CCA366895519AHRc.1929G>C (p.Lys643Asn)
c.1899G>C (p.Lys633Asn)
c.1884G>C (p.Lys628Asn)
7g.17339754G>TCA366895520AHRc.1929G>T (p.Lys643Asn)
c.1899G>T (p.Lys633Asn)
c.1884G>T (p.Lys628Asn)
7g.17339755C>ACA366895521AHRc.1930C>A (p.His644Asn)
c.1900C>A (p.His634Asn)
c.1885C>A (p.His629Asn)
7g.17339755C>GCA366895522AHRc.1930C>G (p.His644Asp)
c.1900C>G (p.His634Asp)
c.1885C>G (p.His629Asp)
7g.17339755C>TCA366895523AHRc.1930C>T (p.His644Tyr)
c.1900C>T (p.His634Tyr)
c.1885C>T (p.His629Tyr)
 gnomAD v4
7g.17339756A=CA1691323954AHRc.1931A= (p.His644=)
c.1901A= (p.His634=)
c.1886A= (p.His629=)
7g.17339756A>CCA366895524AHRc.1931A>C (p.His644Pro)
c.1901A>C (p.His634Pro)
c.1886A>C (p.His629Pro)
7g.17339756A>GCA366895525AHRc.1931A>G (p.His644Arg)
c.1901A>G (p.His634Arg)
c.1886A>G (p.His629Arg)
 dbSNP
7g.17339756A>TCA366895526AHRc.1931A>T (p.His644Leu)
c.1901A>T (p.His634Leu)
c.1886A>T (p.His629Leu)
7g.17339757C>ACA366895527AHRc.1932C>A (p.His644Gln)
c.1902C>A (p.His634Gln)
c.1887C>A (p.His629Gln)
7g.17339757C>GCA366895528AHRc.1932C>G (p.His644Gln)
c.1902C>G (p.His634Gln)
c.1887C>G (p.His629Gln)
7g.17339757C>TCA454134245AHRc.1932C>T (p.His644=)
c.1902C>T (p.His634=)
c.1887C>T (p.His629=)
7g.17339758A>CCA366895529AHRc.1933A>C (p.Met645Leu)
c.1903A>C (p.Met635Leu)
c.1888A>C (p.Met630Leu)
 gnomAD v4
7g.17339758A>GCA366895531AHRc.1933A>G (p.Met645Val)
c.1903A>G (p.Met635Val)
c.1888A>G (p.Met630Val)
 gnomAD v4
7g.17339758A>TCA366895530AHRc.1933A>T (p.Met645Leu)
c.1903A>T (p.Met635Leu)
c.1888A>T (p.Met630Leu)
 gnomAD v4
7g.17339759T>ACA366895532AHRc.1934T>A (p.Met645Lys)
c.1904T>A (p.Met635Lys)
c.1889T>A (p.Met630Lys)
7g.17339759T>CCA366895534AHRc.1934T>C (p.Met645Thr)
c.1904T>C (p.Met635Thr)
c.1889T>C (p.Met630Thr)
7g.17339759T>GCA366895533AHRc.1934T>G (p.Met645Arg)
c.1904T>G (p.Met635Arg)
c.1889T>G (p.Met630Arg)
7g.17339760G>ACA366895535AHRc.1935G>A (p.Met645Ile)
c.1905G>A (p.Met635Ile)
c.1890G>A (p.Met630Ile)
7g.17339760G>CCA366895537AHRc.1935G>C (p.Met645Ile)
c.1905G>C (p.Met635Ile)
c.1890G>C (p.Met630Ile)
 gnomAD v4
7g.17339760G=CA1691323955AHRc.1935G= (p.Met645=)
c.1905G= (p.Met635=)
c.1890G= (p.Met630=)
7g.17339760G>TCA366895536AHRc.1935G>T (p.Met645Ile)
c.1905G>T (p.Met635Ile)
c.1890G>T (p.Met630Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.17339761C>ACA366895538AHRc.1936C>A (p.Gln646Lys)
c.1906C>A (p.Gln636Lys)
c.1891C>A (p.Gln631Lys)
7g.17339761C=CA1691323956AHRc.1936C= (p.Gln646=)
c.1906C= (p.Gln636=)
c.1891C= (p.Gln631=)
7g.17339761C>GCA366895540AHRc.1936C>G (p.Gln646Glu)
c.1906C>G (p.Gln636Glu)
c.1891C>G (p.Gln631Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.17339761C>TCA366895539AHRc.1936C>T (p.Gln646Ter)
c.1906C>T (p.Gln636Ter)
c.1891C>T (p.Gln631Ter)
 COSMIC
7g.17339762A>CCA366895541AHRc.1937A>C (p.Gln646Pro)
c.1907A>C (p.Gln636Pro)
c.1892A>C (p.Gln631Pro)
7g.17339762A>GCA366895542AHRc.1937A>G (p.Gln646Arg)
c.1907A>G (p.Gln636Arg)
c.1892A>G (p.Gln631Arg)
7g.17339762A>TCA366895543AHRc.1937A>T (p.Gln646Leu)
c.1907A>T (p.Gln636Leu)
c.1892A>T (p.Gln631Leu)
7g.17339763A>CCA366895544AHRc.1938A>C (p.Gln646His)
c.1908A>C (p.Gln636His)
c.1893A>C (p.Gln631His)
7g.17339763A>GCA454134327AHRc.1938A>G (p.Gln646=)
c.1908A>G (p.Gln636=)
c.1893A>G (p.Gln631=)
7g.17339763A>TCA366895545AHRc.1938A>T (p.Gln646His)
c.1908A>T (p.Gln636His)
c.1893A>T (p.Gln631His)
7g.17339764G>ACA366895548AHRc.1939G>A (p.Val647Ile)
c.1909G>A (p.Val637Ile)
c.1894G>A (p.Val632Ile)
 COSMIC
7g.17339764G>CCA366895547AHRc.1939G>C (p.Val647Leu)
c.1909G>C (p.Val637Leu)
c.1894G>C (p.Val632Leu)
 ClinVar
7g.17339764G>TCA366895546AHRc.1939G>T (p.Val647Phe)
c.1909G>T (p.Val637Phe)
c.1894G>T (p.Val632Phe)
7g.17339765T>ACA4172206AHRc.1940T>A (p.Val647Asp)
c.1910T>A (p.Val637Asp)
c.1895T>A (p.Val632Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339765T>CCA366895549AHRc.1940T>C (p.Val647Ala)
c.1910T>C (p.Val637Ala)
c.1895T>C (p.Val632Ala)
 gnomAD v4
7g.17339765T>GCA366895550AHRc.1940T>G (p.Val647Gly)
c.1910T>G (p.Val637Gly)
c.1895T>G (p.Val632Gly)
7g.17339765T=CA1691323957AHRc.1940T= (p.Val647=)
c.1910T= (p.Val637=)
c.1895T= (p.Val632=)
7g.17339766T>ACA454134329AHRc.1941T>A (p.Val647=)
c.1911T>A (p.Val637=)
c.1896T>A (p.Val632=)
7g.17339766T>CCA454134330AHRc.1941T>C (p.Val647=)
c.1911T>C (p.Val637=)
c.1896T>C (p.Val632=)
7g.17339766T>GCA454134331AHRc.1941T>G (p.Val647=)
c.1911T>G (p.Val637=)
c.1896T>G (p.Val632=)
7g.17339767A>CCA366895551AHRc.1942A>C (p.Asn648His)
c.1912A>C (p.Asn638His)
c.1897A>C (p.Asn633His)
7g.17339767A>GCA366895552AHRc.1942A>G (p.Asn648Asp)
c.1912A>G (p.Asn638Asp)
c.1897A>G (p.Asn633Asp)
7g.17339767A>TCA366895553AHRc.1942A>T (p.Asn648Tyr)
c.1912A>T (p.Asn638Tyr)
c.1897A>T (p.Asn633Tyr)
7g.17339768A>CCA366895554AHRc.1943A>C (p.Asn648Thr)
c.1913A>C (p.Asn638Thr)
c.1898A>C (p.Asn633Thr)
 gnomAD v4
7g.17339768A>GCA366895556AHRc.1943A>G (p.Asn648Ser)
c.1913A>G (p.Asn638Ser)
c.1898A>G (p.Asn633Ser)
7g.17339768A>TCA366895555AHRc.1943A>T (p.Asn648Ile)
c.1913A>T (p.Asn638Ile)
c.1898A>T (p.Asn633Ile)
7g.17339769T>ACA366895557AHRc.1944T>A (p.Asn648Lys)
c.1914T>A (p.Asn638Lys)
c.1899T>A (p.Asn633Lys)
7g.17339769T>CCA454134333AHRc.1944T>C (p.Asn648=)
c.1914T>C (p.Asn638=)
c.1899T>C (p.Asn633=)
7g.17339769T>GCA366895558AHRc.1944T>G (p.Asn648Lys)
c.1914T>G (p.Asn638Lys)
c.1899T>G (p.Asn633Lys)
7g.17339770G>ACA366895559AHRc.1945G>A (p.Gly649Ser)
c.1915G>A (p.Gly639Ser)
c.1900G>A (p.Gly634Ser)
7g.17339770G>CCA366895560AHRc.1945G>C (p.Gly649Arg)
c.1915G>C (p.Gly639Arg)
c.1900G>C (p.Gly634Arg)
7g.17339770G>TCA366895561AHRc.1945G>T (p.Gly649Cys)
c.1915G>T (p.Gly639Cys)
c.1900G>T (p.Gly634Cys)
7g.17339771G>ACA366895562AHRc.1946G>A (p.Gly649Asp)
c.1916G>A (p.Gly639Asp)
c.1901G>A (p.Gly634Asp)
7g.17339771G>CCA4172207AHRc.1946G>C (p.Gly649Ala)
c.1916G>C (p.Gly639Ala)
c.1901G>C (p.Gly634Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339771G=CA1691323958AHRc.1946G= (p.Gly649=)
c.1916G= (p.Gly639=)
c.1901G= (p.Gly634=)
7g.17339771G>TCA366895563AHRc.1946G>T (p.Gly649Val)
c.1916G>T (p.Gly639Val)
c.1901G>T (p.Gly634Val)
7g.17339772C>ACA454134335AHRc.1947C>A (p.Gly649=)
c.1917C>A (p.Gly639=)
c.1902C>A (p.Gly634=)
7g.17339772C>GCA454134336AHRc.1947C>G (p.Gly649=)
c.1917C>G (p.Gly639=)
c.1902C>G (p.Gly634=)
7g.17339772C>TCA454134337AHRc.1947C>T (p.Gly649=)
c.1917C>T (p.Gly639=)
c.1902C>T (p.Gly634=)
7g.17339773A=CA1691323959AHRc.1948A= (p.Met650=)
c.1918A= (p.Met640=)
c.1903A= (p.Met635=)
7g.17339773A>CCA366895564AHRc.1948A>C (p.Met650Leu)
c.1918A>C (p.Met640Leu)
c.1903A>C (p.Met635Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.17339773A>GCA4172208AHRc.1948A>G (p.Met650Val)
c.1918A>G (p.Met640Val)
c.1903A>G (p.Met635Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339773A>TCA366895565AHRc.1948A>T (p.Met650Leu)
c.1918A>T (p.Met640Leu)
c.1903A>T (p.Met635Leu)
7g.17339774T>ACA366895566AHRc.1949T>A (p.Met650Lys)
c.1919T>A (p.Met640Lys)
c.1904T>A (p.Met635Lys)
7g.17339774T>CCA366895568AHRc.1949T>C (p.Met650Thr)
c.1919T>C (p.Met640Thr)
c.1904T>C (p.Met635Thr)
7g.17339774T>GCA366895567AHRc.1949T>G (p.Met650Arg)
c.1919T>G (p.Met640Arg)
c.1904T>G (p.Met635Arg)
 dbSNP gnomAD v2
7g.17339774T=CA1691323960AHRc.1949T= (p.Met650=)
c.1919T= (p.Met640=)
c.1904T= (p.Met635=)
7g.17339775G>ACA366895569AHRc.1950G>A (p.Met650Ile)
c.1920G>A (p.Met640Ile)
c.1905G>A (p.Met635Ile)
 dbSNP
7g.17339775G>CCA366895570AHRc.1950G>C (p.Met650Ile)
c.1920G>C (p.Met640Ile)
c.1905G>C (p.Met635Ile)
7g.17339775G=CA1691323961AHRc.1950G= (p.Met650=)
c.1920G= (p.Met640=)
c.1905G= (p.Met635=)
7g.17339775G>TCA154121189AHRc.1950G>T (p.Met650Ile)
c.1920G>T (p.Met640Ile)
c.1905G>T (p.Met635Ile)
 dbSNP gnomAD v4
7g.17339776T>ACA366895571AHRc.1951T>A (p.Phe651Ile)
c.1921T>A (p.Phe641Ile)
c.1906T>A (p.Phe636Ile)
7g.17339776T>CCA366895572AHRc.1951T>C (p.Phe651Leu)
c.1921T>C (p.Phe641Leu)
c.1906T>C (p.Phe636Leu)
7g.17339776T>GCA366895573AHRc.1951T>G (p.Phe651Val)
c.1921T>G (p.Phe641Val)
c.1906T>G (p.Phe636Val)
7g.17339777T>ACA366895574AHRc.1952T>A (p.Phe651Tyr)
c.1922T>A (p.Phe641Tyr)
c.1907T>A (p.Phe636Tyr)
7g.17339777T>CCA366895575AHRc.1952T>C (p.Phe651Ser)
c.1922T>C (p.Phe641Ser)
c.1907T>C (p.Phe636Ser)
 gnomAD v4
7g.17339777T>GCA366895576AHRc.1952T>G (p.Phe651Cys)
c.1922T>G (p.Phe641Cys)
c.1907T>G (p.Phe636Cys)
7g.17339778T>ACA366895577AHRc.1953T>A (p.Phe651Leu)
c.1923T>A (p.Phe641Leu)
c.1908T>A (p.Phe636Leu)
7g.17339778T>CCA454134344AHRc.1953T>C (p.Phe651=)
c.1923T>C (p.Phe641=)
c.1908T>C (p.Phe636=)
7g.17339778T>GCA366895578AHRc.1953T>G (p.Phe651Leu)
c.1923T>G (p.Phe641Leu)
c.1908T>G (p.Phe636Leu)
7g.17339779G>ACA366895581AHRc.1954G>A (p.Glu652Lys)
c.1924G>A (p.Glu642Lys)
c.1909G>A (p.Glu637Lys)
7g.17339779G>CCA366895579AHRc.1954G>C (p.Glu652Gln)
c.1924G>C (p.Glu642Gln)
c.1909G>C (p.Glu637Gln)
7g.17339779G>TCA366895580AHRc.1954G>T (p.Glu652Ter)
c.1924G>T (p.Glu642Ter)
c.1909G>T (p.Glu637Ter)
7g.17339780A=CA1691323962AHRc.1955A= (p.Glu652=)
c.1925A= (p.Glu642=)
c.1910A= (p.Glu637=)
7g.17339780A>CCA366895582AHRc.1955A>C (p.Glu652Ala)
c.1925A>C (p.Glu642Ala)
c.1910A>C (p.Glu637Ala)
 gnomAD v4
7g.17339780A>GCA366895583AHRc.1955A>G (p.Glu652Gly)
c.1925A>G (p.Glu642Gly)
c.1910A>G (p.Glu637Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.17339780A>TCA366895584AHRc.1955A>T (p.Glu652Val)
c.1925A>T (p.Glu642Val)
c.1910A>T (p.Glu637Val)
7g.17339783dupCA2681909917AHRc.1958dup (p.Asn653LysfsTer5)
c.1928dup (p.Asn643LysfsTer5)
c.1913dup (p.Asn638LysfsTer5)
 gnomAD v4
7g.17339781A>CCA366895585AHRc.1956A>C (p.Glu652Asp)
c.1926A>C (p.Glu642Asp)
c.1911A>C (p.Glu637Asp)
7g.17339781A>GCA454134346AHRc.1956A>G (p.Glu652=)
c.1926A>G (p.Glu642=)
c.1911A>G (p.Glu637=)
7g.17339781A>TCA366895586AHRc.1956A>T (p.Glu652Asp)
c.1926A>T (p.Glu642Asp)
c.1911A>T (p.Glu637Asp)
7g.17339782A=CA1691323963AHRc.1957A= (p.Asn653=)
c.1927A= (p.Asn643=)
c.1912A= (p.Asn638=)
7g.17339782A>CCA366895587AHRc.1957A>C (p.Asn653His)
c.1927A>C (p.Asn643His)
c.1912A>C (p.Asn638His)
7g.17339782A>GCA366895588AHRc.1957A>G (p.Asn653Asp)
c.1927A>G (p.Asn643Asp)
c.1912A>G (p.Asn638Asp)
7g.17339782A>TCA4172209AHRc.1957A>T (p.Asn653Tyr)
c.1927A>T (p.Asn643Tyr)
c.1912A>T (p.Asn638Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339783A>CCA366895589AHRc.1958A>C (p.Asn653Thr)
c.1928A>C (p.Asn643Thr)
c.1913A>C (p.Asn638Thr)
7g.17339783A>GCA366895590AHRc.1958A>G (p.Asn653Ser)
c.1928A>G (p.Asn643Ser)
c.1913A>G (p.Asn638Ser)
7g.17339783A>TCA366895591AHRc.1958A>T (p.Asn653Ile)
c.1928A>T (p.Asn643Ile)
c.1913A>T (p.Asn638Ile)
7g.17339784T>ACA366895593AHRc.1959T>A (p.Asn653Lys)
c.1929T>A (p.Asn643Lys)
c.1914T>A (p.Asn638Lys)
7g.17339784T>CCA454134349AHRc.1959T>C (p.Asn653=)
c.1929T>C (p.Asn643=)
c.1914T>C (p.Asn638=)
 gnomAD v4
7g.17339784T>GCA366895592AHRc.1959T>G (p.Asn653Lys)
c.1929T>G (p.Asn643Lys)
c.1914T>G (p.Asn638Lys)
7g.17339785T>ACA366895594AHRc.1960T>A (p.Trp654Arg)
c.1930T>A (p.Trp644Arg)
c.1915T>A (p.Trp639Arg)
7g.17339785T>CCA366895596AHRc.1960T>C (p.Trp654Arg)
c.1930T>C (p.Trp644Arg)
c.1915T>C (p.Trp639Arg)
7g.17339785T>GCA366895595AHRc.1960T>G (p.Trp654Gly)
c.1930T>G (p.Trp644Gly)
c.1915T>G (p.Trp639Gly)
7g.17339786G>ACA366895597AHRc.1961G>A (p.Trp654Ter)
c.1931G>A (p.Trp644Ter)
c.1916G>A (p.Trp639Ter)
7g.17339786G>CCA366895598AHRc.1961G>C (p.Trp654Ser)
c.1931G>C (p.Trp644Ser)
c.1916G>C (p.Trp639Ser)
7g.17339786G>TCA366895599AHRc.1961G>T (p.Trp654Leu)
c.1931G>T (p.Trp644Leu)
c.1916G>T (p.Trp639Leu)
7g.17339787G>ACA366895600AHRc.1962G>A (p.Trp654Ter)
c.1932G>A (p.Trp644Ter)
c.1917G>A (p.Trp639Ter)
7g.17339787G>CCA366895601AHRc.1962G>C (p.Trp654Cys)
c.1932G>C (p.Trp644Cys)
c.1917G>C (p.Trp639Cys)
7g.17339787G=CA1691323964AHRc.1962G= (p.Trp654=)
c.1932G= (p.Trp644=)
c.1917G= (p.Trp639=)
7g.17339787G>TCA4172210AHRc.1962G>T (p.Trp654Cys)
c.1932G>T (p.Trp644Cys)
c.1917G>T (p.Trp639Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339788A>CCA366895602AHRc.1963A>C (p.Asn655His)
c.1933A>C (p.Asn645His)
c.1918A>C (p.Asn640His)
7g.17339788A>GCA366895603AHRc.1963A>G (p.Asn655Asp)
c.1933A>G (p.Asn645Asp)
c.1918A>G (p.Asn640Asp)
7g.17339788A>TCA366895604AHRc.1963A>T (p.Asn655Tyr)
c.1933A>T (p.Asn645Tyr)
c.1918A>T (p.Asn640Tyr)
7g.17339789A>CCA366895605AHRc.1964A>C (p.Asn655Thr)
c.1934A>C (p.Asn645Thr)
c.1919A>C (p.Asn640Thr)
7g.17339789A>GCA366895606AHRc.1964A>G (p.Asn655Ser)
c.1934A>G (p.Asn645Ser)
c.1919A>G (p.Asn640Ser)
 gnomAD v4
7g.17339789A>TCA366895607AHRc.1964A>T (p.Asn655Ile)
c.1934A>T (p.Asn645Ile)
c.1919A>T (p.Asn640Ile)
7g.17339790C>ACA366895609AHRc.1965C>A (p.Asn655Lys)
c.1935C>A (p.Asn645Lys)
c.1920C>A (p.Asn640Lys)
7g.17339790C=CA1691323965AHRc.1965C= (p.Asn655=)
c.1935C= (p.Asn645=)
c.1920C= (p.Asn640=)
7g.17339790C>GCA366895608AHRc.1965C>G (p.Asn655Lys)
c.1935C>G (p.Asn645Lys)
c.1920C>G (p.Asn640Lys)
7g.17339790C>TCA154121199AHRc.1965C>T (p.Asn655=)
c.1935C>T (p.Asn645=)
c.1920C>T (p.Asn640=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.17339791T>ACA366895610AHRc.1966T>A (p.Ser656Thr)
c.1936T>A (p.Ser646Thr)
c.1921T>A (p.Ser641Thr)
7g.17339791T>CCA366895611AHRc.1966T>C (p.Ser656Pro)
c.1936T>C (p.Ser646Pro)
c.1921T>C (p.Ser641Pro)
7g.17339791T>GCA366895612AHRc.1966T>G (p.Ser656Ala)
c.1936T>G (p.Ser646Ala)
c.1921T>G (p.Ser641Ala)
7g.17339792C>ACA366895613AHRc.1967C>A (p.Ser656Tyr)
c.1937C>A (p.Ser646Tyr)
c.1922C>A (p.Ser641Tyr)
7g.17339792C=CA1691323966AHRc.1967C= (p.Ser656=)
c.1937C= (p.Ser646=)
c.1922C= (p.Ser641=)
7g.17339792C>GCA366895614AHRc.1967C>G (p.Ser656Cys)
c.1937C>G (p.Ser646Cys)
c.1922C>G (p.Ser641Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339792C>TCA366895615AHRc.1967C>T (p.Ser656Phe)
c.1937C>T (p.Ser646Phe)
c.1922C>T (p.Ser641Phe)
7g.17339793T>ACA454134355AHRc.1968T>A (p.Ser656=)
c.1938T>A (p.Ser646=)
c.1923T>A (p.Ser641=)
7g.17339793T>CCA154121205AHRc.1968T>C (p.Ser656=)
c.1938T>C (p.Ser646=)
c.1923T>C (p.Ser641=)
 dbSNP gnomAD v4
7g.17339793T>GCA454134354AHRc.1968T>G (p.Ser656=)
c.1938T>G (p.Ser646=)
c.1923T>G (p.Ser641=)
7g.17339793T=CA1691323967AHRc.1968T= (p.Ser656=)
c.1938T= (p.Ser646=)
c.1923T= (p.Ser641=)
7g.17339794A>CCA366895616AHRc.1969A>C (p.Asn657His)
c.1939A>C (p.Asn647His)
c.1924A>C (p.Asn642His)
7g.17339794A>GCA366895617AHRc.1969A>G (p.Asn657Asp)
c.1939A>G (p.Asn647Asp)
c.1924A>G (p.Asn642Asp)
7g.17339794A>TCA366895618AHRc.1969A>T (p.Asn657Tyr)
c.1939A>T (p.Asn647Tyr)
c.1924A>T (p.Asn642Tyr)
7g.17339795A>CCA366895619AHRc.1970A>C (p.Asn657Thr)
c.1940A>C (p.Asn647Thr)
c.1925A>C (p.Asn642Thr)
7g.17339795A>GCA366895620AHRc.1970A>G (p.Asn657Ser)
c.1940A>G (p.Asn647Ser)
c.1925A>G (p.Asn642Ser)
7g.17339795A>TCA366895621AHRc.1970A>T (p.Asn657Ile)
c.1940A>T (p.Asn647Ile)
c.1925A>T (p.Asn642Ile)
7g.17339796C>ACA366895623AHRc.1971C>A (p.Asn657Lys)
c.1941C>A (p.Asn647Lys)
c.1926C>A (p.Asn642Lys)
7g.17339796C=CA1691323968AHRc.1971C= (p.Asn657=)
c.1941C= (p.Asn647=)
c.1926C= (p.Asn642=)
7g.17339796C>GCA366895622AHRc.1971C>G (p.Asn657Lys)
c.1941C>G (p.Asn647Lys)
c.1926C>G (p.Asn642Lys)
 dbSNP
7g.17339796C>TCA454134359AHRc.1971C>T (p.Asn657=)
c.1941C>T (p.Asn647=)
c.1926C>T (p.Asn642=)
7g.17339797C>ACA154121206AHRc.1972C>A (p.Gln658Lys)
c.1942C>A (p.Gln648Lys)
c.1927C>A (p.Gln643Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339797C=CA1691323969AHRc.1972C= (p.Gln658=)
c.1942C= (p.Gln648=)
c.1927C= (p.Gln643=)
7g.17339797C>GCA366895624AHRc.1972C>G (p.Gln658Glu)
c.1942C>G (p.Gln648Glu)
c.1927C>G (p.Gln643Glu)
 dbSNP gnomAD v4
7g.17339797C>TCA366895625AHRc.1972C>T (p.Gln658Ter)
c.1942C>T (p.Gln648Ter)
c.1927C>T (p.Gln643Ter)
7g.17339798A>CCA366895626AHRc.1973A>C (p.Gln658Pro)
c.1943A>C (p.Gln648Pro)
c.1928A>C (p.Gln643Pro)
7g.17339798A>GCA366895627AHRc.1973A>G (p.Gln658Arg)
c.1943A>G (p.Gln648Arg)
c.1928A>G (p.Gln643Arg)
7g.17339798A>TCA366895628AHRc.1973A>T (p.Gln658Leu)
c.1943A>T (p.Gln648Leu)
c.1928A>T (p.Gln643Leu)
7g.17339799A>CCA366895630AHRc.1974A>C (p.Gln658His)
c.1944A>C (p.Gln648His)
c.1929A>C (p.Gln643His)
7g.17339799A>GCA454134361AHRc.1974A>G (p.Gln658=)
c.1944A>G (p.Gln648=)
c.1929A>G (p.Gln643=)
7g.17339799A>TCA366895629AHRc.1974A>T (p.Gln658His)
c.1944A>T (p.Gln648His)
c.1929A>T (p.Gln643His)
7g.17339800T>ACA366895631AHRc.1975T>A (p.Phe659Ile)
c.1945T>A (p.Phe649Ile)
c.1930T>A (p.Phe644Ile)
7g.17339800T>CCA366895632AHRc.1975T>C (p.Phe659Leu)
c.1945T>C (p.Phe649Leu)
c.1930T>C (p.Phe644Leu)
7g.17339800T>GCA366895633AHRc.1975T>G (p.Phe659Val)
c.1945T>G (p.Phe649Val)
c.1930T>G (p.Phe644Val)
7g.17339801T>ACA366895634AHRc.1976T>A (p.Phe659Tyr)
c.1946T>A (p.Phe649Tyr)
c.1931T>A (p.Phe644Tyr)
7g.17339801T>CCA366895635AHRc.1976T>C (p.Phe659Ser)
c.1946T>C (p.Phe649Ser)
c.1931T>C (p.Phe644Ser)
7g.17339801T>GCA366895636AHRc.1976T>G (p.Phe659Cys)
c.1946T>G (p.Phe649Cys)
c.1931T>G (p.Phe644Cys)
7g.17339802C>ACA366895637AHRc.1977C>A (p.Phe659Leu)
c.1947C>A (p.Phe649Leu)
c.1932C>A (p.Phe644Leu)
7g.17339802C=CA1691323970AHRc.1977C= (p.Phe659=)
c.1947C= (p.Phe649=)
c.1932C= (p.Phe644=)
7g.17339802C>GCA366895638AHRc.1977C>G (p.Phe659Leu)
c.1947C>G (p.Phe649Leu)
c.1932C>G (p.Phe644Leu)
 gnomAD v4
7g.17339802C>TCA4172211AHRc.1977C>T (p.Phe659=)
c.1947C>T (p.Phe649=)
c.1932C>T (p.Phe644=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339803G>ACA4172212AHRc.1978G>A (p.Val660Met)
c.1948G>A (p.Val650Met)
c.1933G>A (p.Val645Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.17339803G>CCA366895639AHRc.1978G>C (p.Val660Leu)
c.1948G>C (p.Val650Leu)
c.1933G>C (p.Val645Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.17339803G=CA1691323971AHRc.1978G= (p.Val660=)
c.1948G= (p.Val650=)
c.1933G= (p.Val645=)
7g.17339803G>TCA366895640AHRc.1978G>T (p.Val660Leu)
c.1948G>T (p.Val650Leu)
c.1933G>T (p.Val645Leu)
7g.17339804T>ACA366895641AHRc.1979T>A (p.Val660Glu)
c.1949T>A (p.Val650Glu)
c.1934T>A (p.Val645Glu)
7g.17339804T>CCA366895642AHRc.1979T>C (p.Val660Ala)
c.1949T>C (p.Val650Ala)
c.1934T>C (p.Val645Ala)
 gnomAD v4
7g.17339804T>GCA366895643AHRc.1979T>G (p.Val660Gly)
c.1949T>G (p.Val650Gly)
c.1934T>G (p.Val645Gly)
7g.17339805G>ACA454134364AHRc.1980G>A (p.Val660=)
c.1950G>A (p.Val650=)
c.1935G>A (p.Val645=)
7g.17339805G>CCA454134365AHRc.1980G>C (p.Val660=)
c.1950G>C (p.Val650=)
c.1935G>C (p.Val645=)
7g.17339805G>TCA454134366AHRc.1980G>T (p.Val660=)
c.1950G>T (p.Val650=)
c.1935G>T (p.Val645=)
7g.17339806C>ACA366895644AHRc.1981C>A (p.Pro661Thr)
c.1951C>A (p.Pro651Thr)
c.1936C>A (p.Pro646Thr)
7g.17339806C>GCA366895645AHRc.1981C>G (p.Pro661Ala)
c.1951C>G (p.Pro651Ala)
c.1936C>G (p.Pro646Ala)
7g.17339806C>TCA366895646AHRc.1981C>T (p.Pro661Ser)
c.1951C>T (p.Pro651Ser)
c.1936C>T (p.Pro646Ser)
7g.17339807C>ACA366895647AHRc.1982C>A (p.Pro661His)
c.1952C>A (p.Pro651His)
c.1937C>A (p.Pro646His)
7g.17339807C>GCA366895648AHRc.1982C>G (p.Pro661Arg)
c.1952C>G (p.Pro651Arg)
c.1937C>G (p.Pro646Arg)
7g.17339807C>TCA366895649AHRc.1982C>T (p.Pro661Leu)
c.1952C>T (p.Pro651Leu)
c.1937C>T (p.Pro646Leu)
7g.17339808T>ACA454134367AHRc.1983T>A (p.Pro661=)
c.1953T>A (p.Pro651=)
c.1938T>A (p.Pro646=)
7g.17339808T>CCA4172213AHRc.1983T>C (p.Pro661=)
c.1953T>C (p.Pro651=)
c.1938T>C (p.Pro646=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339808T>GCA454134369AHRc.1983T>G (p.Pro661=)
c.1953T>G (p.Pro651=)
c.1938T>G (p.Pro646=)
7g.17339808T=CA1691323972AHRc.1983T= (p.Pro661=)
c.1953T= (p.Pro651=)
c.1938T= (p.Pro646=)
7g.17339809T>ACA366895651AHRc.1984T>A (p.Phe662Ile)
c.1954T>A (p.Phe652Ile)
c.1939T>A (p.Phe647Ile)
 dbSNP
7g.17339809T>CCA366895650AHRc.1984T>C (p.Phe662Leu)
c.1954T>C (p.Phe652Leu)
c.1939T>C (p.Phe647Leu)
7g.17339809T>GCA366895652AHRc.1984T>G (p.Phe662Val)
c.1954T>G (p.Phe652Val)
c.1939T>G (p.Phe647Val)
7g.17339809T=CA1691323973AHRc.1984T= (p.Phe662=)
c.1954T= (p.Phe652=)
c.1939T= (p.Phe647=)
7g.17339810T>ACA366895653AHRc.1985T>A (p.Phe662Tyr)
c.1955T>A (p.Phe652Tyr)
c.1940T>A (p.Phe647Tyr)
7g.17339810T>CCA366895655AHRc.1985T>C (p.Phe662Ser)
c.1955T>C (p.Phe652Ser)
c.1940T>C (p.Phe647Ser)
7g.17339810T>GCA366895654AHRc.1985T>G (p.Phe662Cys)
c.1955T>G (p.Phe652Cys)
c.1940T>G (p.Phe647Cys)
7g.17339811C>ACA366895656AHRc.1986C>A (p.Phe662Leu)
c.1956C>A (p.Phe652Leu)
c.1941C>A (p.Phe647Leu)
7g.17339811C=CA1691323974AHRc.1986C= (p.Phe662=)
c.1956C= (p.Phe652=)
c.1941C= (p.Phe647=)
7g.17339811C>GCA366895657AHRc.1986C>G (p.Phe662Leu)
c.1956C>G (p.Phe652Leu)
c.1941C>G (p.Phe647Leu)
7g.17339811C>TCA4172214AHRc.1986C>T (p.Phe662=)
c.1956C>T (p.Phe652=)
c.1941C>T (p.Phe647=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339812A=CA1691323975AHRc.1987A= (p.Asn663=)
c.1957A= (p.Asn653=)
c.1942A= (p.Asn648=)
7g.17339812A>CCA366895658AHRc.1987A>C (p.Asn663His)
c.1957A>C (p.Asn653His)
c.1942A>C (p.Asn648His)
7g.17339812A>GCA366895659AHRc.1987A>G (p.Asn663Asp)
c.1957A>G (p.Asn653Asp)
c.1942A>G (p.Asn648Asp)
 dbSNP
7g.17339812A>TCA366895660AHRc.1987A>T (p.Asn663Tyr)
c.1957A>T (p.Asn653Tyr)
c.1942A>T (p.Asn648Tyr)
7g.17339813A=CA1691323976AHRc.1988A= (p.Asn663=)
c.1958A= (p.Asn653=)
c.1943A= (p.Asn648=)
7g.17339813A>CCA4172216AHRc.1988A>C (p.Asn663Thr)
c.1958A>C (p.Asn653Thr)
c.1943A>C (p.Asn648Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339813A>GCA4172215AHRc.1988A>G (p.Asn663Ser)
c.1958A>G (p.Asn653Ser)
c.1943A>G (p.Asn648Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339813A>TCA366895661AHRc.1988A>T (p.Asn663Ile)
c.1958A>T (p.Asn653Ile)
c.1943A>T (p.Asn648Ile)
7g.17339814T>ACA366895662AHRc.1989T>A (p.Asn663Lys)
c.1959T>A (p.Asn653Lys)
c.1944T>A (p.Asn648Lys)
7g.17339814T>CCA454134371AHRc.1989T>C (p.Asn663=)
c.1959T>C (p.Asn653=)
c.1944T>C (p.Asn648=)
 gnomAD v4
7g.17339814T>GCA366895663AHRc.1989T>G (p.Asn663Lys)
c.1959T>G (p.Asn653Lys)
c.1944T>G (p.Asn648Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.17339814T=CA1691323977AHRc.1989T= (p.Asn663=)
c.1959T= (p.Asn653=)
c.1944T= (p.Asn648=)
7g.17339815T>ACA366895666AHRc.1990T>A (p.Cys664Ser)
c.1960T>A (p.Cys654Ser)
c.1945T>A (p.Cys649Ser)
7g.17339815T>CCA366895665AHRc.1990T>C (p.Cys664Arg)
c.1960T>C (p.Cys654Arg)
c.1945T>C (p.Cys649Arg)
 gnomAD v4
7g.17339815T>GCA366895664AHRc.1990T>G (p.Cys664Gly)
c.1960T>G (p.Cys654Gly)
c.1945T>G (p.Cys649Gly)
 gnomAD v4
7g.17339816G>ACA366895667AHRc.1991G>A (p.Cys664Tyr)
c.1961G>A (p.Cys654Tyr)
c.1946G>A (p.Cys649Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339816G>CCA366895668AHRc.1991G>C (p.Cys664Ser)
c.1961G>C (p.Cys654Ser)
c.1946G>C (p.Cys649Ser)
7g.17339816G=CA1691323978AHRc.1991G= (p.Cys664=)
c.1961G= (p.Cys654=)
c.1946G= (p.Cys649=)
7g.17339816G>TCA366895669AHRc.1991G>T (p.Cys664Phe)
c.1961G>T (p.Cys654Phe)
c.1946G>T (p.Cys649Phe)
 COSMIC
7g.17339817T>ACA366895670AHRc.1992T>A (p.Cys664Ter)
c.1962T>A (p.Cys654Ter)
c.1947T>A (p.Cys649Ter)
7g.17339817T>CCA454134376AHRc.1992T>C (p.Cys664=)
c.1962T>C (p.Cys654=)
c.1947T>C (p.Cys649=)
7g.17339817T>GCA366895671AHRc.1992T>G (p.Cys664Trp)
c.1962T>G (p.Cys654Trp)
c.1947T>G (p.Cys649Trp)
7g.17339818C>ACA366895672AHRc.1993C>A (p.Pro665Thr)
c.1963C>A (p.Pro655Thr)
c.1948C>A (p.Pro650Thr)
7g.17339818C>GCA366895673AHRc.1993C>G (p.Pro665Ala)
c.1963C>G (p.Pro655Ala)
c.1948C>G (p.Pro650Ala)
7g.17339818C>TCA366895674AHRc.1993C>T (p.Pro665Ser)
c.1963C>T (p.Pro655Ser)
c.1948C>T (p.Pro650Ser)
7g.17339819C>ACA366895675AHRc.1994C>A (p.Pro665Gln)
c.1964C>A (p.Pro655Gln)
c.1949C>A (p.Pro650Gln)
7g.17339819C>GCA366895676AHRc.1994C>G (p.Pro665Arg)
c.1964C>G (p.Pro655Arg)
c.1949C>G (p.Pro650Arg)
7g.17339819C>TCA366895677AHRc.1994C>T (p.Pro665Leu)
c.1964C>T (p.Pro655Leu)
c.1949C>T (p.Pro650Leu)
 gnomAD v4
7g.17339820A>CCA454134378AHRc.1995A>C (p.Pro665=)
c.1965A>C (p.Pro655=)
c.1950A>C (p.Pro650=)
7g.17339820A>GCA454134379AHRc.1995A>G (p.Pro665=)
c.1965A>G (p.Pro655=)
c.1950A>G (p.Pro650=)
7g.17339820A>TCA454134380AHRc.1995A>T (p.Pro665=)
c.1965A>T (p.Pro655=)
c.1950A>T (p.Pro650=)
7g.17339821C>ACA4172217AHRc.1996C>A (p.Gln666Lys)
c.1966C>A (p.Gln656Lys)
c.1951C>A (p.Gln651Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339821C=CA1691323979AHRc.1996C= (p.Gln666=)
c.1966C= (p.Gln656=)
c.1951C= (p.Gln651=)
7g.17339821C>GCA366895679AHRc.1996C>G (p.Gln666Glu)
c.1966C>G (p.Gln656Glu)
c.1951C>G (p.Gln651Glu)
7g.17339821C>TCA366895678AHRc.1996C>T (p.Gln666Ter)
c.1966C>T (p.Gln656Ter)
c.1951C>T (p.Gln651Ter)
7g.17339822A>CCA366895680AHRc.1997A>C (p.Gln666Pro)
c.1967A>C (p.Gln656Pro)
c.1952A>C (p.Gln651Pro)
7g.17339822A>GCA366895681AHRc.1997A>G (p.Gln666Arg)
c.1967A>G (p.Gln656Arg)
c.1952A>G (p.Gln651Arg)
7g.17339822A>TCA366895682AHRc.1997A>T (p.Gln666Leu)
c.1967A>T (p.Gln656Leu)
c.1952A>T (p.Gln651Leu)
7g.17339823G>ACA454134382AHRc.1998G>A (p.Gln666=)
c.1968G>A (p.Gln656=)
c.1953G>A (p.Gln651=)
7g.17339823G>CCA366895683AHRc.1998G>C (p.Gln666His)
c.1968G>C (p.Gln656His)
c.1953G>C (p.Gln651His)
7g.17339823G>TCA366895684AHRc.1998G>T (p.Gln666His)
c.1968G>T (p.Gln656His)
c.1953G>T (p.Gln651His)
7g.17339824C>ACA366895685AHRc.1999C>A (p.Gln667Lys)
c.1969C>A (p.Gln657Lys)
c.1954C>A (p.Gln652Lys)
7g.17339824C=CA1691323980AHRc.1999C= (p.Gln667=)
c.1969C= (p.Gln657=)
c.1954C= (p.Gln652=)
7g.17339824C>GCA366895686AHRc.1999C>G (p.Gln667Glu)
c.1969C>G (p.Gln657Glu)
c.1954C>G (p.Gln652Glu)
 dbSNP gnomAD v4
7g.17339824C>TCA366895687AHRc.1999C>T (p.Gln667Ter)
c.1969C>T (p.Gln657Ter)
c.1954C>T (p.Gln652Ter)
7g.17339825A>CCA366895688AHRc.2000A>C (p.Gln667Pro)
c.1970A>C (p.Gln657Pro)
c.1955A>C (p.Gln652Pro)
7g.17339825A>GCA366895689AHRc.2000A>G (p.Gln667Arg)
c.1970A>G (p.Gln657Arg)
c.1955A>G (p.Gln652Arg)
7g.17339825A>TCA366895690AHRc.2000A>T (p.Gln667Leu)
c.1970A>T (p.Gln657Leu)
c.1955A>T (p.Gln652Leu)
7g.17339826A>CCA366895691AHRc.2001A>C (p.Gln667His)
c.1971A>C (p.Gln657His)
c.1956A>C (p.Gln652His)
7g.17339826A>GCA454134386AHRc.2001A>G (p.Gln667=)
c.1971A>G (p.Gln657=)
c.1956A>G (p.Gln652=)
7g.17339826A>TCA366895692AHRc.2001A>T (p.Gln667His)
c.1971A>T (p.Gln657His)
c.1956A>T (p.Gln652His)
7g.17339827G>ACA366895695AHRc.2002G>A (p.Asp668Asn)
c.1972G>A (p.Asp658Asn)
c.1957G>A (p.Asp653Asn)
7g.17339827G>CCA366895693AHRc.2002G>C (p.Asp668His)
c.1972G>C (p.Asp658His)
c.1957G>C (p.Asp653His)
7g.17339827G>TCA366895694AHRc.2002G>T (p.Asp668Tyr)
c.1972G>T (p.Asp658Tyr)
c.1957G>T (p.Asp653Tyr)
7g.17339828A>CCA366895696AHRc.2003A>C (p.Asp668Ala)
c.1973A>C (p.Asp658Ala)
c.1958A>C (p.Asp653Ala)
7g.17339828A>GCA366895697AHRc.2003A>G (p.Asp668Gly)
c.1973A>G (p.Asp658Gly)
c.1958A>G (p.Asp653Gly)
7g.17339828A>TCA366895698AHRc.2003A>T (p.Asp668Val)
c.1973A>T (p.Asp658Val)
c.1958A>T (p.Asp653Val)
7g.17339829C>ACA366895699AHRc.2004C>A (p.Asp668Glu)
c.1974C>A (p.Asp658Glu)
c.1959C>A (p.Asp653Glu)
 ClinVar gnomAD v4
7g.17339829C=CA1691323981AHRc.2004C= (p.Asp668=)
c.1974C= (p.Asp658=)
c.1959C= (p.Asp653=)
7g.17339829C>GCA366895700AHRc.2004C>G (p.Asp668Glu)
c.1974C>G (p.Asp658Glu)
c.1959C>G (p.Asp653Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339829C>TCA454134388AHRc.2004C>T (p.Asp668=)
c.1974C>T (p.Asp658=)
c.1959C>T (p.Asp653=)
7g.17339830C>ACA366895701AHRc.2005C>A (p.Pro669Thr)
c.1975C>A (p.Pro659Thr)
c.1960C>A (p.Pro654Thr)
7g.17339830C>GCA366895702AHRc.2005C>G (p.Pro669Ala)
c.1975C>G (p.Pro659Ala)
c.1960C>G (p.Pro654Ala)
7g.17339830C>TCA366895703AHRc.2005C>T (p.Pro669Ser)
c.1975C>T (p.Pro659Ser)
c.1960C>T (p.Pro654Ser)
 gnomAD v4
7g.17339831C>ACA366895704AHRc.2006C>A (p.Pro669Gln)
c.1976C>A (p.Pro659Gln)
c.1961C>A (p.Pro654Gln)
7g.17339831C>GCA366895705AHRc.2006C>G (p.Pro669Arg)
c.1976C>G (p.Pro659Arg)
c.1961C>G (p.Pro654Arg)
7g.17339831C>TCA366895706AHRc.2006C>T (p.Pro669Leu)
c.1976C>T (p.Pro659Leu)
c.1961C>T (p.Pro654Leu)
7g.17339832A>CCA454134389AHRc.2007A>C (p.Pro669=)
c.1977A>C (p.Pro659=)
c.1962A>C (p.Pro654=)
7g.17339832A>GCA454134390AHRc.2007A>G (p.Pro669=)
c.1977A>G (p.Pro659=)
c.1962A>G (p.Pro654=)
7g.17339832A>TCA454134392AHRc.2007A>T (p.Pro669=)
c.1977A>T (p.Pro659=)
c.1962A>T (p.Pro654=)
7g.17339833C>ACA366895709AHRc.2008C>A (p.Gln670Lys)
c.1978C>A (p.Gln660Lys)
c.1963C>A (p.Gln655Lys)
7g.17339833C>GCA366895708AHRc.2008C>G (p.Gln670Glu)
c.1978C>G (p.Gln660Glu)
c.1963C>G (p.Gln655Glu)
 gnomAD v4
7g.17339833C>TCA366895707AHRc.2008C>T (p.Gln670Ter)
c.1978C>T (p.Gln660Ter)
c.1963C>T (p.Gln655Ter)
7g.17339834A>CCA366895710AHRc.2009A>C (p.Gln670Pro)
c.1979A>C (p.Gln660Pro)
c.1964A>C (p.Gln655Pro)
7g.17339834A>GCA366895712AHRc.2009A>G (p.Gln670Arg)
c.1979A>G (p.Gln660Arg)
c.1964A>G (p.Gln655Arg)
7g.17339834A>TCA366895711AHRc.2009A>T (p.Gln670Leu)
c.1979A>T (p.Gln660Leu)
c.1964A>T (p.Gln655Leu)
7g.17339835A=CA1691323982AHRc.2010A= (p.Gln670=)
c.1980A= (p.Gln660=)
c.1965A= (p.Gln655=)
7g.17339835A>CCA366895713AHRc.2010A>C (p.Gln670His)
c.1980A>C (p.Gln660His)
c.1965A>C (p.Gln655His)
7g.17339835A>GCA4172218AHRc.2010A>G (p.Gln670=)
c.1980A>G (p.Gln660=)
c.1965A>G (p.Gln655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339835A>TCA366895714AHRc.2010A>T (p.Gln670His)
c.1980A>T (p.Gln660His)
c.1965A>T (p.Gln655His)
7g.17339836C>ACA366895715AHRc.2011C>A (p.Gln671Lys)
c.1981C>A (p.Gln661Lys)
c.1966C>A (p.Gln656Lys)
7g.17339836C>GCA366895716AHRc.2011C>G (p.Gln671Glu)
c.1981C>G (p.Gln661Glu)
c.1966C>G (p.Gln656Glu)
7g.17339836C>TCA366895717AHRc.2011C>T (p.Gln671Ter)
c.1981C>T (p.Gln661Ter)
c.1966C>T (p.Gln656Ter)
7g.17339837A>CCA366895718AHRc.2012A>C (p.Gln671Pro)
c.1982A>C (p.Gln661Pro)
c.1967A>C (p.Gln656Pro)
7g.17339837A>GCA366895719AHRc.2012A>G (p.Gln671Arg)
c.1982A>G (p.Gln661Arg)
c.1967A>G (p.Gln656Arg)
 gnomAD v4
7g.17339837A>TCA366895720AHRc.2012A>T (p.Gln671Leu)
c.1982A>T (p.Gln661Leu)
c.1967A>T (p.Gln656Leu)
7g.17339838A=CA1691323983AHRc.2013A= (p.Gln671=)
c.1983A= (p.Gln661=)
c.1968A= (p.Gln656=)
7g.17339838A>CCA366895721AHRc.2013A>C (p.Gln671His)
c.1983A>C (p.Gln661His)
c.1968A>C (p.Gln656His)
7g.17339838A>GCA454134397AHRc.2013A>G (p.Gln671=)
c.1983A>G (p.Gln661=)
c.1968A>G (p.Gln656=)
 dbSNP gnomAD v4
7g.17339838A>TCA366895722AHRc.2013A>T (p.Gln671His)
c.1983A>T (p.Gln661His)
c.1968A>T (p.Gln656His)
7g.17339839T>ACA366895725AHRc.2014T>A (p.Tyr672Asn)
c.1984T>A (p.Tyr662Asn)
c.1969T>A (p.Tyr657Asn)
7g.17339839T>CCA366895724AHRc.2014T>C (p.Tyr672His)
c.1984T>C (p.Tyr662His)
c.1969T>C (p.Tyr657His)
7g.17339839T>GCA366895723AHRc.2014T>G (p.Tyr672Asp)
c.1984T>G (p.Tyr662Asp)
c.1969T>G (p.Tyr657Asp)
7g.17339840A=CA1691323984AHRc.2015A= (p.Tyr672=)
c.1985A= (p.Tyr662=)
c.1970A= (p.Tyr657=)
7g.17339840A>CCA366895726AHRc.2015A>C (p.Tyr672Ser)
c.1985A>C (p.Tyr662Ser)
c.1970A>C (p.Tyr657Ser)
7g.17339840A>GCA366895727AHRc.2015A>G (p.Tyr672Cys)
c.1985A>G (p.Tyr662Cys)
c.1970A>G (p.Tyr657Cys)
 dbSNP gnomAD v4
7g.17339840A>TCA366895728AHRc.2015A>T (p.Tyr672Phe)
c.1985A>T (p.Tyr662Phe)
c.1970A>T (p.Tyr657Phe)
7g.17339842_17339844delCA2681909918AHRc.2017_2019del (p.Asn673del)
c.1987_1989del (p.Asn663del)
c.1972_1974del (p.Asn658del)
 gnomAD v4
7g.17339841T>ACA366895729AHRc.2016T>A (p.Tyr672Ter)
c.1986T>A (p.Tyr662Ter)
c.1971T>A (p.Tyr657Ter)
7g.17339841T>CCA4172219AHRc.2016T>C (p.Tyr672=)
c.1986T>C (p.Tyr662=)
c.1971T>C (p.Tyr657=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339841T>GCA366895730AHRc.2016T>G (p.Tyr672Ter)
c.1986T>G (p.Tyr662Ter)
c.1971T>G (p.Tyr657Ter)
7g.17339841T=CA1691323985AHRc.2016T= (p.Tyr672=)
c.1986T= (p.Tyr662=)
c.1971T= (p.Tyr657=)
7g.17339842A>CCA366895731AHRc.2017A>C (p.Asn673His)
c.1987A>C (p.Asn663His)
c.1972A>C (p.Asn658His)
7g.17339842A>GCA366895732AHRc.2017A>G (p.Asn673Asp)
c.1987A>G (p.Asn663Asp)
c.1972A>G (p.Asn658Asp)
7g.17339842A>TCA366895733AHRc.2017A>T (p.Asn673Tyr)
c.1987A>T (p.Asn663Tyr)
c.1972A>T (p.Asn658Tyr)
7g.17339843A=CA1691323986AHRc.2018A= (p.Asn673=)
c.1988A= (p.Asn663=)
c.1973A= (p.Asn658=)
7g.17339843A>CCA366895734AHRc.2018A>C (p.Asn673Thr)
c.1988A>C (p.Asn663Thr)
c.1973A>C (p.Asn658Thr)
7g.17339843A>GCA4172220AHRc.2018A>G (p.Asn673Ser)
c.1988A>G (p.Asn663Ser)
c.1973A>G (p.Asn658Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339843A>TCA366895735AHRc.2018A>T (p.Asn673Ile)
c.1988A>T (p.Asn663Ile)
c.1973A>T (p.Asn658Ile)
7g.17339844delCA2681909919AHRc.2019del (p.Asn673LysfsTer?)
c.1989del (p.Asn663LysfsTer?)
c.1974del (p.Asn658LysfsTer?)
 gnomAD v4
7g.17339844T>ACA366895737AHRc.2019T>A (p.Asn673Lys)
c.1989T>A (p.Asn663Lys)
c.1974T>A (p.Asn658Lys)
7g.17339844T>CCA454134402AHRc.2019T>C (p.Asn673=)
c.1989T>C (p.Asn663=)
c.1974T>C (p.Asn658=)
 gnomAD v4
7g.17339844T>GCA366895736AHRc.2019T>G (p.Asn673Lys)
c.1989T>G (p.Asn663Lys)
c.1974T>G (p.Asn658Lys)
7g.17339845G>ACA4172221AHRc.2020G>A (p.Val674Ile)
c.1990G>A (p.Val664Ile)
c.1975G>A (p.Val659Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339845G>CCA366895738AHRc.2020G>C (p.Val674Leu)
c.1990G>C (p.Val664Leu)
c.1975G>C (p.Val659Leu)
7g.17339845G=CA1691323987AHRc.2020G= (p.Val674=)
c.1990G= (p.Val664=)
c.1975G= (p.Val659=)
7g.17339845G>TCA366895739AHRc.2020G>T (p.Val674Phe)
c.1990G>T (p.Val664Phe)
c.1975G>T (p.Val659Phe)
7g.17339846T>ACA366895740AHRc.2021T>A (p.Val674Asp)
c.1991T>A (p.Val664Asp)
c.1976T>A (p.Val659Asp)
7g.17339846T>CCA366895741AHRc.2021T>C (p.Val674Ala)
c.1991T>C (p.Val664Ala)
c.1976T>C (p.Val659Ala)
7g.17339846T>GCA366895742AHRc.2021T>G (p.Val674Gly)
c.1991T>G (p.Val664Gly)
c.1976T>G (p.Val659Gly)

Number of alleles fetched