Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113282730C>ACA357913920ANK2c.1988C>A (p.Ser663Tyr)
c.1982C>A (p.Ser661Tyr)
n.5263C>A
n.2144C>A
n.2073C>A
n.1949C>A
n.1013C>A
n.934C>A
c.1937C>A (p.Ser646Tyr)
c.1874C>A (p.Ser625Tyr)
c.1850C>A (p.Ser617Tyr)
c.1775C>A (p.Ser592Tyr)
c.1853C>A (p.Ser618Tyr)
c.1652C>A (p.Ser551Tyr)
c.1751C>A (p.Ser584Tyr)
c.1838C>A (p.Ser613Tyr)
c.1454C>A (p.Ser485Tyr)
c.1508C>A (p.Ser503Tyr)
c.1604C>A (p.Ser535Tyr)
c.2033C>A (p.Ser678Tyr)
c.2009C>A (p.Ser670Tyr)
c.1919C>A (p.Ser640Tyr)
c.1895C>A (p.Ser632Tyr)
c.1727C>A (p.Ser576Tyr)
c.1739C>A (p.Ser580Tyr)
c.1964C>A (p.Ser655Tyr)
c.1925C>A (p.Ser642Tyr)
c.1553C>A (p.Ser518Tyr)
c.1901C>A (p.Ser634Tyr)
 gnomAD v4
4g.113282730C>GCA357913921ANK2c.1988C>G (p.Ser663Cys)
c.1982C>G (p.Ser661Cys)
n.5263C>G
n.2144C>G
n.2073C>G
n.1949C>G
n.1013C>G
n.934C>G
c.1937C>G (p.Ser646Cys)
c.1874C>G (p.Ser625Cys)
c.1850C>G (p.Ser617Cys)
c.1775C>G (p.Ser592Cys)
c.1853C>G (p.Ser618Cys)
c.1652C>G (p.Ser551Cys)
c.1751C>G (p.Ser584Cys)
c.1838C>G (p.Ser613Cys)
c.1454C>G (p.Ser485Cys)
c.1508C>G (p.Ser503Cys)
c.1604C>G (p.Ser535Cys)
c.2033C>G (p.Ser678Cys)
c.2009C>G (p.Ser670Cys)
c.1919C>G (p.Ser640Cys)
c.1895C>G (p.Ser632Cys)
c.1727C>G (p.Ser576Cys)
c.1739C>G (p.Ser580Cys)
c.1964C>G (p.Ser655Cys)
c.1925C>G (p.Ser642Cys)
c.1553C>G (p.Ser518Cys)
c.1901C>G (p.Ser634Cys)
4g.113282730C>TCA300820ANK2c.1988C>T (p.Ser663Phe)
c.1982C>T (p.Ser661Phe)
n.5263C>T
n.2144C>T
n.2073C>T
n.1949C>T
n.1013C>T
n.934C>T
c.1937C>T (p.Ser646Phe)
c.1874C>T (p.Ser625Phe)
c.1850C>T (p.Ser617Phe)
c.1775C>T (p.Ser592Phe)
c.1853C>T (p.Ser618Phe)
c.1652C>T (p.Ser551Phe)
c.1751C>T (p.Ser584Phe)
c.1838C>T (p.Ser613Phe)
c.1454C>T (p.Ser485Phe)
c.1508C>T (p.Ser503Phe)
c.1604C>T (p.Ser535Phe)
c.2033C>T (p.Ser678Phe)
c.2009C>T (p.Ser670Phe)
c.1919C>T (p.Ser640Phe)
c.1895C>T (p.Ser632Phe)
c.1727C>T (p.Ser576Phe)
c.1739C>T (p.Ser580Phe)
c.1964C>T (p.Ser655Phe)
c.1925C>T (p.Ser642Phe)
c.1553C>T (p.Ser518Phe)
c.1901C>T (p.Ser634Phe)
 ClinVar dbSNP
4g.113282731C>ACA440827456ANK2c.1989C>A (p.Ser663=)
c.1983C>A (p.Ser661=)
n.5264C>A
n.2145C>A
n.2074C>A
n.1950C>A
n.1014C>A
n.935C>A
c.1938C>A (p.Ser646=)
c.1875C>A (p.Ser625=)
c.1851C>A (p.Ser617=)
c.1776C>A (p.Ser592=)
c.1854C>A (p.Ser618=)
c.1653C>A (p.Ser551=)
c.1752C>A (p.Ser584=)
c.1839C>A (p.Ser613=)
c.1455C>A (p.Ser485=)
c.1509C>A (p.Ser503=)
c.1605C>A (p.Ser535=)
c.2034C>A (p.Ser678=)
c.2010C>A (p.Ser670=)
c.1920C>A (p.Ser640=)
c.1896C>A (p.Ser632=)
c.1728C>A (p.Ser576=)
c.1740C>A (p.Ser580=)
c.1965C>A (p.Ser655=)
c.1926C>A (p.Ser642=)
c.1554C>A (p.Ser518=)
c.1902C>A (p.Ser634=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.113282731C>GCA440827464ANK2c.1989C>G (p.Ser663=)
c.1983C>G (p.Ser661=)
n.5264C>G
n.2145C>G
n.2074C>G
n.1950C>G
n.1014C>G
n.935C>G
c.1938C>G (p.Ser646=)
c.1875C>G (p.Ser625=)
c.1851C>G (p.Ser617=)
c.1776C>G (p.Ser592=)
c.1854C>G (p.Ser618=)
c.1653C>G (p.Ser551=)
c.1752C>G (p.Ser584=)
c.1839C>G (p.Ser613=)
c.1455C>G (p.Ser485=)
c.1509C>G (p.Ser503=)
c.1605C>G (p.Ser535=)
c.2034C>G (p.Ser678=)
c.2010C>G (p.Ser670=)
c.1920C>G (p.Ser640=)
c.1896C>G (p.Ser632=)
c.1728C>G (p.Ser576=)
c.1740C>G (p.Ser580=)
c.1965C>G (p.Ser655=)
c.1926C>G (p.Ser642=)
c.1554C>G (p.Ser518=)
c.1902C>G (p.Ser634=)
4g.113282731C>TCA440827459ANK2c.1989C>T (p.Ser663=)
c.1983C>T (p.Ser661=)
n.5264C>T
n.2145C>T
n.2074C>T
n.1950C>T
n.1014C>T
n.935C>T
c.1938C>T (p.Ser646=)
c.1875C>T (p.Ser625=)
c.1851C>T (p.Ser617=)
c.1776C>T (p.Ser592=)
c.1854C>T (p.Ser618=)
c.1653C>T (p.Ser551=)
c.1752C>T (p.Ser584=)
c.1839C>T (p.Ser613=)
c.1455C>T (p.Ser485=)
c.1509C>T (p.Ser503=)
c.1605C>T (p.Ser535=)
c.2034C>T (p.Ser678=)
c.2010C>T (p.Ser670=)
c.1920C>T (p.Ser640=)
c.1896C>T (p.Ser632=)
c.1728C>T (p.Ser576=)
c.1740C>T (p.Ser580=)
c.1965C>T (p.Ser655=)
c.1926C>T (p.Ser642=)
c.1554C>T (p.Ser518=)
c.1902C>T (p.Ser634=)
4g.113282732A>CCA357913924ANK2c.1990A>C (p.Thr664Pro)
c.1984A>C (p.Thr662Pro)
n.5265A>C
n.2146A>C
n.2075A>C
n.1951A>C
n.1015A>C
n.936A>C
c.1939A>C (p.Thr647Pro)
c.1876A>C (p.Thr626Pro)
c.1852A>C (p.Thr618Pro)
c.1777A>C (p.Thr593Pro)
c.1855A>C (p.Thr619Pro)
c.1654A>C (p.Thr552Pro)
c.1753A>C (p.Thr585Pro)
c.1840A>C (p.Thr614Pro)
c.1456A>C (p.Thr486Pro)
c.1510A>C (p.Thr504Pro)
c.1606A>C (p.Thr536Pro)
c.2035A>C (p.Thr679Pro)
c.2011A>C (p.Thr671Pro)
c.1921A>C (p.Thr641Pro)
c.1897A>C (p.Thr633Pro)
c.1729A>C (p.Thr577Pro)
c.1741A>C (p.Thr581Pro)
c.1966A>C (p.Thr656Pro)
c.1927A>C (p.Thr643Pro)
c.1555A>C (p.Thr519Pro)
c.1903A>C (p.Thr635Pro)
4g.113282732A>GCA357913923ANK2c.1990A>G (p.Thr664Ala)
c.1984A>G (p.Thr662Ala)
n.5265A>G
n.2146A>G
n.2075A>G
n.1951A>G
n.1015A>G
n.936A>G
c.1939A>G (p.Thr647Ala)
c.1876A>G (p.Thr626Ala)
c.1852A>G (p.Thr618Ala)
c.1777A>G (p.Thr593Ala)
c.1855A>G (p.Thr619Ala)
c.1654A>G (p.Thr552Ala)
c.1753A>G (p.Thr585Ala)
c.1840A>G (p.Thr614Ala)
c.1456A>G (p.Thr486Ala)
c.1510A>G (p.Thr504Ala)
c.1606A>G (p.Thr536Ala)
c.2035A>G (p.Thr679Ala)
c.2011A>G (p.Thr671Ala)
c.1921A>G (p.Thr641Ala)
c.1897A>G (p.Thr633Ala)
c.1729A>G (p.Thr577Ala)
c.1741A>G (p.Thr581Ala)
c.1966A>G (p.Thr656Ala)
c.1927A>G (p.Thr643Ala)
c.1555A>G (p.Thr519Ala)
c.1903A>G (p.Thr635Ala)
4g.113282732A>TCA357913922ANK2c.1990A>T (p.Thr664Ser)
c.1984A>T (p.Thr662Ser)
n.5265A>T
n.2146A>T
n.2075A>T
n.1951A>T
n.1015A>T
n.936A>T
c.1939A>T (p.Thr647Ser)
c.1876A>T (p.Thr626Ser)
c.1852A>T (p.Thr618Ser)
c.1777A>T (p.Thr593Ser)
c.1855A>T (p.Thr619Ser)
c.1654A>T (p.Thr552Ser)
c.1753A>T (p.Thr585Ser)
c.1840A>T (p.Thr614Ser)
c.1456A>T (p.Thr486Ser)
c.1510A>T (p.Thr504Ser)
c.1606A>T (p.Thr536Ser)
c.2035A>T (p.Thr679Ser)
c.2011A>T (p.Thr671Ser)
c.1921A>T (p.Thr641Ser)
c.1897A>T (p.Thr633Ser)
c.1729A>T (p.Thr577Ser)
c.1741A>T (p.Thr581Ser)
c.1966A>T (p.Thr656Ser)
c.1927A>T (p.Thr643Ser)
c.1555A>T (p.Thr519Ser)
c.1903A>T (p.Thr635Ser)
4g.113282733C>ACA357913925ANK2c.1991C>A (p.Thr664Lys)
c.1985C>A (p.Thr662Lys)
n.5266C>A
n.2147C>A
n.2076C>A
n.1952C>A
n.1016C>A
n.937C>A
c.1940C>A (p.Thr647Lys)
c.1877C>A (p.Thr626Lys)
c.1853C>A (p.Thr618Lys)
c.1778C>A (p.Thr593Lys)
c.1856C>A (p.Thr619Lys)
c.1655C>A (p.Thr552Lys)
c.1754C>A (p.Thr585Lys)
c.1841C>A (p.Thr614Lys)
c.1457C>A (p.Thr486Lys)
c.1511C>A (p.Thr504Lys)
c.1607C>A (p.Thr536Lys)
c.2036C>A (p.Thr679Lys)
c.2012C>A (p.Thr671Lys)
c.1922C>A (p.Thr641Lys)
c.1898C>A (p.Thr633Lys)
c.1730C>A (p.Thr577Lys)
c.1742C>A (p.Thr581Lys)
c.1967C>A (p.Thr656Lys)
c.1928C>A (p.Thr643Lys)
c.1556C>A (p.Thr519Lys)
c.1904C>A (p.Thr635Lys)
4g.113282733C>GCA357913926ANK2c.1991C>G (p.Thr664Arg)
c.1985C>G (p.Thr662Arg)
n.5266C>G
n.2147C>G
n.2076C>G
n.1952C>G
n.1016C>G
n.937C>G
c.1940C>G (p.Thr647Arg)
c.1877C>G (p.Thr626Arg)
c.1853C>G (p.Thr618Arg)
c.1778C>G (p.Thr593Arg)
c.1856C>G (p.Thr619Arg)
c.1655C>G (p.Thr552Arg)
c.1754C>G (p.Thr585Arg)
c.1841C>G (p.Thr614Arg)
c.1457C>G (p.Thr486Arg)
c.1511C>G (p.Thr504Arg)
c.1607C>G (p.Thr536Arg)
c.2036C>G (p.Thr679Arg)
c.2012C>G (p.Thr671Arg)
c.1922C>G (p.Thr641Arg)
c.1898C>G (p.Thr633Arg)
c.1730C>G (p.Thr577Arg)
c.1742C>G (p.Thr581Arg)
c.1967C>G (p.Thr656Arg)
c.1928C>G (p.Thr643Arg)
c.1556C>G (p.Thr519Arg)
c.1904C>G (p.Thr635Arg)
4g.113282733C>TCA357913927ANK2c.1991C>T (p.Thr664Ile)
c.1985C>T (p.Thr662Ile)
n.5266C>T
n.2147C>T
n.2076C>T
n.1952C>T
n.1016C>T
n.937C>T
c.1940C>T (p.Thr647Ile)
c.1877C>T (p.Thr626Ile)
c.1853C>T (p.Thr618Ile)
c.1778C>T (p.Thr593Ile)
c.1856C>T (p.Thr619Ile)
c.1655C>T (p.Thr552Ile)
c.1754C>T (p.Thr585Ile)
c.1841C>T (p.Thr614Ile)
c.1457C>T (p.Thr486Ile)
c.1511C>T (p.Thr504Ile)
c.1607C>T (p.Thr536Ile)
c.2036C>T (p.Thr679Ile)
c.2012C>T (p.Thr671Ile)
c.1922C>T (p.Thr641Ile)
c.1898C>T (p.Thr633Ile)
c.1730C>T (p.Thr577Ile)
c.1742C>T (p.Thr581Ile)
c.1967C>T (p.Thr656Ile)
c.1928C>T (p.Thr643Ile)
c.1556C>T (p.Thr519Ile)
c.1904C>T (p.Thr635Ile)
4g.113282734A>CCA440827493ANK2c.1992A>C (p.Thr664=)
c.1986A>C (p.Thr662=)
n.5267A>C
n.2148A>C
n.2077A>C
n.1953A>C
n.1017A>C
n.938A>C
c.1941A>C (p.Thr647=)
c.1878A>C (p.Thr626=)
c.1854A>C (p.Thr618=)
c.1779A>C (p.Thr593=)
c.1857A>C (p.Thr619=)
c.1656A>C (p.Thr552=)
c.1755A>C (p.Thr585=)
c.1842A>C (p.Thr614=)
c.1458A>C (p.Thr486=)
c.1512A>C (p.Thr504=)
c.1608A>C (p.Thr536=)
c.2037A>C (p.Thr679=)
c.2013A>C (p.Thr671=)
c.1923A>C (p.Thr641=)
c.1899A>C (p.Thr633=)
c.1731A>C (p.Thr577=)
c.1743A>C (p.Thr581=)
c.1968A>C (p.Thr656=)
c.1929A>C (p.Thr643=)
c.1557A>C (p.Thr519=)
c.1905A>C (p.Thr635=)
4g.113282734A>GCA440827496ANK2c.1992A>G (p.Thr664=)
c.1986A>G (p.Thr662=)
n.5267A>G
n.2148A>G
n.2077A>G
n.1953A>G
n.1017A>G
n.938A>G
c.1941A>G (p.Thr647=)
c.1878A>G (p.Thr626=)
c.1854A>G (p.Thr618=)
c.1779A>G (p.Thr593=)
c.1857A>G (p.Thr619=)
c.1656A>G (p.Thr552=)
c.1755A>G (p.Thr585=)
c.1842A>G (p.Thr614=)
c.1458A>G (p.Thr486=)
c.1512A>G (p.Thr504=)
c.1608A>G (p.Thr536=)
c.2037A>G (p.Thr679=)
c.2013A>G (p.Thr671=)
c.1923A>G (p.Thr641=)
c.1899A>G (p.Thr633=)
c.1731A>G (p.Thr577=)
c.1743A>G (p.Thr581=)
c.1968A>G (p.Thr656=)
c.1929A>G (p.Thr643=)
c.1557A>G (p.Thr519=)
c.1905A>G (p.Thr635=)
 ClinVar dbSNP gnomAD v4
4g.113282734A>TCA440827498ANK2c.1992A>T (p.Thr664=)
c.1986A>T (p.Thr662=)
n.5267A>T
n.2148A>T
n.2077A>T
n.1953A>T
n.1017A>T
n.938A>T
c.1941A>T (p.Thr647=)
c.1878A>T (p.Thr626=)
c.1854A>T (p.Thr618=)
c.1779A>T (p.Thr593=)
c.1857A>T (p.Thr619=)
c.1656A>T (p.Thr552=)
c.1755A>T (p.Thr585=)
c.1842A>T (p.Thr614=)
c.1458A>T (p.Thr486=)
c.1512A>T (p.Thr504=)
c.1608A>T (p.Thr536=)
c.2037A>T (p.Thr679=)
c.2013A>T (p.Thr671=)
c.1923A>T (p.Thr641=)
c.1899A>T (p.Thr633=)
c.1731A>T (p.Thr577=)
c.1743A>T (p.Thr581=)
c.1968A>T (p.Thr656=)
c.1929A>T (p.Thr643=)
c.1557A>T (p.Thr519=)
c.1905A>T (p.Thr635=)
 ClinVar dbSNP
4g.113282735C>ACA357913928ANK2c.1993C>A (p.Leu665Ile)
c.1987C>A (p.Leu663Ile)
n.5268C>A
n.2149C>A
n.2078C>A
n.1954C>A
n.1018C>A
n.939C>A
c.1942C>A (p.Leu648Ile)
c.1879C>A (p.Leu627Ile)
c.1855C>A (p.Leu619Ile)
c.1780C>A (p.Leu594Ile)
c.1858C>A (p.Leu620Ile)
c.1657C>A (p.Leu553Ile)
c.1756C>A (p.Leu586Ile)
c.1843C>A (p.Leu615Ile)
c.1459C>A (p.Leu487Ile)
c.1513C>A (p.Leu505Ile)
c.1609C>A (p.Leu537Ile)
c.2038C>A (p.Leu680Ile)
c.2014C>A (p.Leu672Ile)
c.1924C>A (p.Leu642Ile)
c.1900C>A (p.Leu634Ile)
c.1732C>A (p.Leu578Ile)
c.1744C>A (p.Leu582Ile)
c.1969C>A (p.Leu657Ile)
c.1930C>A (p.Leu644Ile)
c.1558C>A (p.Leu520Ile)
c.1906C>A (p.Leu636Ile)
4g.113282735C>GCA357913929ANK2c.1993C>G (p.Leu665Val)
c.1987C>G (p.Leu663Val)
n.5268C>G
n.2149C>G
n.2078C>G
n.1954C>G
n.1018C>G
n.939C>G
c.1942C>G (p.Leu648Val)
c.1879C>G (p.Leu627Val)
c.1855C>G (p.Leu619Val)
c.1780C>G (p.Leu594Val)
c.1858C>G (p.Leu620Val)
c.1657C>G (p.Leu553Val)
c.1756C>G (p.Leu586Val)
c.1843C>G (p.Leu615Val)
c.1459C>G (p.Leu487Val)
c.1513C>G (p.Leu505Val)
c.1609C>G (p.Leu537Val)
c.2038C>G (p.Leu680Val)
c.2014C>G (p.Leu672Val)
c.1924C>G (p.Leu642Val)
c.1900C>G (p.Leu634Val)
c.1732C>G (p.Leu578Val)
c.1744C>G (p.Leu582Val)
c.1969C>G (p.Leu657Val)
c.1930C>G (p.Leu644Val)
c.1558C>G (p.Leu520Val)
c.1906C>G (p.Leu636Val)
4g.113282735C>TCA357913930ANK2c.1993C>T (p.Leu665Phe)
c.1987C>T (p.Leu663Phe)
n.5268C>T
n.2149C>T
n.2078C>T
n.1954C>T
n.1018C>T
n.939C>T
c.1942C>T (p.Leu648Phe)
c.1879C>T (p.Leu627Phe)
c.1855C>T (p.Leu619Phe)
c.1780C>T (p.Leu594Phe)
c.1858C>T (p.Leu620Phe)
c.1657C>T (p.Leu553Phe)
c.1756C>T (p.Leu586Phe)
c.1843C>T (p.Leu615Phe)
c.1459C>T (p.Leu487Phe)
c.1513C>T (p.Leu505Phe)
c.1609C>T (p.Leu537Phe)
c.2038C>T (p.Leu680Phe)
c.2014C>T (p.Leu672Phe)
c.1924C>T (p.Leu642Phe)
c.1900C>T (p.Leu634Phe)
c.1732C>T (p.Leu578Phe)
c.1744C>T (p.Leu582Phe)
c.1969C>T (p.Leu657Phe)
c.1930C>T (p.Leu644Phe)
c.1558C>T (p.Leu520Phe)
c.1906C>T (p.Leu636Phe)
 gnomAD v4 COSMIC
4g.113282736T>ACA357913931ANK2c.1994T>A (p.Leu665His)
c.1988T>A (p.Leu663His)
n.5269T>A
n.2150T>A
n.2079T>A
n.1955T>A
n.1019T>A
n.940T>A
c.1943T>A (p.Leu648His)
c.1880T>A (p.Leu627His)
c.1856T>A (p.Leu619His)
c.1781T>A (p.Leu594His)
c.1859T>A (p.Leu620His)
c.1658T>A (p.Leu553His)
c.1757T>A (p.Leu586His)
c.1844T>A (p.Leu615His)
c.1460T>A (p.Leu487His)
c.1514T>A (p.Leu505His)
c.1610T>A (p.Leu537His)
c.2039T>A (p.Leu680His)
c.2015T>A (p.Leu672His)
c.1925T>A (p.Leu642His)
c.1901T>A (p.Leu634His)
c.1733T>A (p.Leu578His)
c.1745T>A (p.Leu582His)
c.1970T>A (p.Leu657His)
c.1931T>A (p.Leu644His)
c.1559T>A (p.Leu520His)
c.1907T>A (p.Leu636His)
4g.113282736T>CCA357913932ANK2c.1994T>C (p.Leu665Pro)
c.1988T>C (p.Leu663Pro)
n.5269T>C
n.2150T>C
n.2079T>C
n.1955T>C
n.1019T>C
n.940T>C
c.1943T>C (p.Leu648Pro)
c.1880T>C (p.Leu627Pro)
c.1856T>C (p.Leu619Pro)
c.1781T>C (p.Leu594Pro)
c.1859T>C (p.Leu620Pro)
c.1658T>C (p.Leu553Pro)
c.1757T>C (p.Leu586Pro)
c.1844T>C (p.Leu615Pro)
c.1460T>C (p.Leu487Pro)
c.1514T>C (p.Leu505Pro)
c.1610T>C (p.Leu537Pro)
c.2039T>C (p.Leu680Pro)
c.2015T>C (p.Leu672Pro)
c.1925T>C (p.Leu642Pro)
c.1901T>C (p.Leu634Pro)
c.1733T>C (p.Leu578Pro)
c.1745T>C (p.Leu582Pro)
c.1970T>C (p.Leu657Pro)
c.1931T>C (p.Leu644Pro)
c.1559T>C (p.Leu520Pro)
c.1907T>C (p.Leu636Pro)
4g.113282736T>GCA357913933ANK2c.1994T>G (p.Leu665Arg)
c.1988T>G (p.Leu663Arg)
n.5269T>G
n.2150T>G
n.2079T>G
n.1955T>G
n.1019T>G
n.940T>G
c.1943T>G (p.Leu648Arg)
c.1880T>G (p.Leu627Arg)
c.1856T>G (p.Leu619Arg)
c.1781T>G (p.Leu594Arg)
c.1859T>G (p.Leu620Arg)
c.1658T>G (p.Leu553Arg)
c.1757T>G (p.Leu586Arg)
c.1844T>G (p.Leu615Arg)
c.1460T>G (p.Leu487Arg)
c.1514T>G (p.Leu505Arg)
c.1610T>G (p.Leu537Arg)
c.2039T>G (p.Leu680Arg)
c.2015T>G (p.Leu672Arg)
c.1925T>G (p.Leu642Arg)
c.1901T>G (p.Leu634Arg)
c.1733T>G (p.Leu578Arg)
c.1745T>G (p.Leu582Arg)
c.1970T>G (p.Leu657Arg)
c.1931T>G (p.Leu644Arg)
c.1559T>G (p.Leu520Arg)
c.1907T>G (p.Leu636Arg)
4g.113282737C>ACA440827528ANK2c.1995C>A (p.Leu665=)
c.1989C>A (p.Leu663=)
n.5270C>A
n.2151C>A
n.2080C>A
n.1956C>A
n.1020C>A
n.941C>A
c.1944C>A (p.Leu648=)
c.1881C>A (p.Leu627=)
c.1857C>A (p.Leu619=)
c.1782C>A (p.Leu594=)
c.1860C>A (p.Leu620=)
c.1659C>A (p.Leu553=)
c.1758C>A (p.Leu586=)
c.1845C>A (p.Leu615=)
c.1461C>A (p.Leu487=)
c.1515C>A (p.Leu505=)
c.1611C>A (p.Leu537=)
c.2040C>A (p.Leu680=)
c.2016C>A (p.Leu672=)
c.1926C>A (p.Leu642=)
c.1902C>A (p.Leu634=)
c.1734C>A (p.Leu578=)
c.1746C>A (p.Leu582=)
c.1971C>A (p.Leu657=)
c.1932C>A (p.Leu644=)
c.1560C>A (p.Leu520=)
c.1908C>A (p.Leu636=)
 dbSNP
4g.113282737C>GCA440827530ANK2c.1995C>G (p.Leu665=)
c.1989C>G (p.Leu663=)
n.5270C>G
n.2151C>G
n.2080C>G
n.1956C>G
n.1020C>G
n.941C>G
c.1944C>G (p.Leu648=)
c.1881C>G (p.Leu627=)
c.1857C>G (p.Leu619=)
c.1782C>G (p.Leu594=)
c.1860C>G (p.Leu620=)
c.1659C>G (p.Leu553=)
c.1758C>G (p.Leu586=)
c.1845C>G (p.Leu615=)
c.1461C>G (p.Leu487=)
c.1515C>G (p.Leu505=)
c.1611C>G (p.Leu537=)
c.2040C>G (p.Leu680=)
c.2016C>G (p.Leu672=)
c.1926C>G (p.Leu642=)
c.1902C>G (p.Leu634=)
c.1734C>G (p.Leu578=)
c.1746C>G (p.Leu582=)
c.1971C>G (p.Leu657=)
c.1932C>G (p.Leu644=)
c.1560C>G (p.Leu520=)
c.1908C>G (p.Leu636=)
4g.113282737C>TCA440827533ANK2c.1995C>T (p.Leu665=)
c.1989C>T (p.Leu663=)
n.5270C>T
n.2151C>T
n.2080C>T
n.1956C>T
n.1020C>T
n.941C>T
c.1944C>T (p.Leu648=)
c.1881C>T (p.Leu627=)
c.1857C>T (p.Leu619=)
c.1782C>T (p.Leu594=)
c.1860C>T (p.Leu620=)
c.1659C>T (p.Leu553=)
c.1758C>T (p.Leu586=)
c.1845C>T (p.Leu615=)
c.1461C>T (p.Leu487=)
c.1515C>T (p.Leu505=)
c.1611C>T (p.Leu537=)
c.2040C>T (p.Leu680=)
c.2016C>T (p.Leu672=)
c.1926C>T (p.Leu642=)
c.1902C>T (p.Leu634=)
c.1734C>T (p.Leu578=)
c.1746C>T (p.Leu582=)
c.1971C>T (p.Leu657=)
c.1932C>T (p.Leu644=)
c.1560C>T (p.Leu520=)
c.1908C>T (p.Leu636=)
4g.113282738C>ACA357913934ANK2c.1996C>A (p.Leu666Met)
c.1990C>A (p.Leu664Met)
n.5271C>A
n.2152C>A
n.2081C>A
n.1957C>A
n.1021C>A
n.942C>A
c.1945C>A (p.Leu649Met)
c.1882C>A (p.Leu628Met)
c.1858C>A (p.Leu620Met)
c.1783C>A (p.Leu595Met)
c.1861C>A (p.Leu621Met)
c.1660C>A (p.Leu554Met)
c.1759C>A (p.Leu587Met)
c.1846C>A (p.Leu616Met)
c.1462C>A (p.Leu488Met)
c.1516C>A (p.Leu506Met)
c.1612C>A (p.Leu538Met)
c.2041C>A (p.Leu681Met)
c.2017C>A (p.Leu673Met)
c.1927C>A (p.Leu643Met)
c.1903C>A (p.Leu635Met)
c.1735C>A (p.Leu579Met)
c.1747C>A (p.Leu583Met)
c.1972C>A (p.Leu658Met)
c.1933C>A (p.Leu645Met)
c.1561C>A (p.Leu521Met)
c.1909C>A (p.Leu637Met)
4g.113282738C>GCA357913935ANK2c.1996C>G (p.Leu666Val)
c.1990C>G (p.Leu664Val)
n.5271C>G
n.2152C>G
n.2081C>G
n.1957C>G
n.1021C>G
n.942C>G
c.1945C>G (p.Leu649Val)
c.1882C>G (p.Leu628Val)
c.1858C>G (p.Leu620Val)
c.1783C>G (p.Leu595Val)
c.1861C>G (p.Leu621Val)
c.1660C>G (p.Leu554Val)
c.1759C>G (p.Leu587Val)
c.1846C>G (p.Leu616Val)
c.1462C>G (p.Leu488Val)
c.1516C>G (p.Leu506Val)
c.1612C>G (p.Leu538Val)
c.2041C>G (p.Leu681Val)
c.2017C>G (p.Leu673Val)
c.1927C>G (p.Leu643Val)
c.1903C>G (p.Leu635Val)
c.1735C>G (p.Leu579Val)
c.1747C>G (p.Leu583Val)
c.1972C>G (p.Leu658Val)
c.1933C>G (p.Leu645Val)
c.1561C>G (p.Leu521Val)
c.1909C>G (p.Leu637Val)
4g.113282738C>TCA440827543ANK2c.1996C>T (p.Leu666=)
c.1990C>T (p.Leu664=)
n.5271C>T
n.2152C>T
n.2081C>T
n.1957C>T
n.1021C>T
n.942C>T
c.1945C>T (p.Leu649=)
c.1882C>T (p.Leu628=)
c.1858C>T (p.Leu620=)
c.1783C>T (p.Leu595=)
c.1861C>T (p.Leu621=)
c.1660C>T (p.Leu554=)
c.1759C>T (p.Leu587=)
c.1846C>T (p.Leu616=)
c.1462C>T (p.Leu488=)
c.1516C>T (p.Leu506=)
c.1612C>T (p.Leu538=)
c.2041C>T (p.Leu681=)
c.2017C>T (p.Leu673=)
c.1927C>T (p.Leu643=)
c.1903C>T (p.Leu635=)
c.1735C>T (p.Leu579=)
c.1747C>T (p.Leu583=)
c.1972C>T (p.Leu658=)
c.1933C>T (p.Leu645=)
c.1561C>T (p.Leu521=)
c.1909C>T (p.Leu637=)
 gnomAD v4
4g.113282739T>ACA357913936ANK2c.1997T>A (p.Leu666Gln)
c.1991T>A (p.Leu664Gln)
n.5272T>A
n.2153T>A
n.2082T>A
n.1958T>A
n.1022T>A
n.943T>A
c.1946T>A (p.Leu649Gln)
c.1883T>A (p.Leu628Gln)
c.1859T>A (p.Leu620Gln)
c.1784T>A (p.Leu595Gln)
c.1862T>A (p.Leu621Gln)
c.1661T>A (p.Leu554Gln)
c.1760T>A (p.Leu587Gln)
c.1847T>A (p.Leu616Gln)
c.1463T>A (p.Leu488Gln)
c.1517T>A (p.Leu506Gln)
c.1613T>A (p.Leu538Gln)
c.2042T>A (p.Leu681Gln)
c.2018T>A (p.Leu673Gln)
c.1928T>A (p.Leu643Gln)
c.1904T>A (p.Leu635Gln)
c.1736T>A (p.Leu579Gln)
c.1748T>A (p.Leu583Gln)
c.1973T>A (p.Leu658Gln)
c.1934T>A (p.Leu645Gln)
c.1562T>A (p.Leu521Gln)
c.1910T>A (p.Leu637Gln)
4g.113282739T>CCA357913937ANK2c.1997T>C (p.Leu666Pro)
c.1991T>C (p.Leu664Pro)
n.5272T>C
n.2153T>C
n.2082T>C
n.1958T>C
n.1022T>C
n.943T>C
c.1946T>C (p.Leu649Pro)
c.1883T>C (p.Leu628Pro)
c.1859T>C (p.Leu620Pro)
c.1784T>C (p.Leu595Pro)
c.1862T>C (p.Leu621Pro)
c.1661T>C (p.Leu554Pro)
c.1760T>C (p.Leu587Pro)
c.1847T>C (p.Leu616Pro)
c.1463T>C (p.Leu488Pro)
c.1517T>C (p.Leu506Pro)
c.1613T>C (p.Leu538Pro)
c.2042T>C (p.Leu681Pro)
c.2018T>C (p.Leu673Pro)
c.1928T>C (p.Leu643Pro)
c.1904T>C (p.Leu635Pro)
c.1736T>C (p.Leu579Pro)
c.1748T>C (p.Leu583Pro)
c.1973T>C (p.Leu658Pro)
c.1934T>C (p.Leu645Pro)
c.1562T>C (p.Leu521Pro)
c.1910T>C (p.Leu637Pro)
 gnomAD v4
4g.113282739T>GCA357913938ANK2c.1997T>G (p.Leu666Arg)
c.1991T>G (p.Leu664Arg)
n.5272T>G
n.2153T>G
n.2082T>G
n.1958T>G
n.1022T>G
n.943T>G
c.1946T>G (p.Leu649Arg)
c.1883T>G (p.Leu628Arg)
c.1859T>G (p.Leu620Arg)
c.1784T>G (p.Leu595Arg)
c.1862T>G (p.Leu621Arg)
c.1661T>G (p.Leu554Arg)
c.1760T>G (p.Leu587Arg)
c.1847T>G (p.Leu616Arg)
c.1463T>G (p.Leu488Arg)
c.1517T>G (p.Leu506Arg)
c.1613T>G (p.Leu538Arg)
c.2042T>G (p.Leu681Arg)
c.2018T>G (p.Leu673Arg)
c.1928T>G (p.Leu643Arg)
c.1904T>G (p.Leu635Arg)
c.1736T>G (p.Leu579Arg)
c.1748T>G (p.Leu583Arg)
c.1973T>G (p.Leu658Arg)
c.1934T>G (p.Leu645Arg)
c.1562T>G (p.Leu521Arg)
c.1910T>G (p.Leu637Arg)
4g.113282740G>ACA440827553ANK2c.1998G>A (p.Leu666=)
c.1992G>A (p.Leu664=)
n.5273G>A
n.2154G>A
n.2083G>A
n.1959G>A
n.1023G>A
n.944G>A
c.1947G>A (p.Leu649=)
c.1884G>A (p.Leu628=)
c.1860G>A (p.Leu620=)
c.1785G>A (p.Leu595=)
c.1863G>A (p.Leu621=)
c.1662G>A (p.Leu554=)
c.1761G>A (p.Leu587=)
c.1848G>A (p.Leu616=)
c.1464G>A (p.Leu488=)
c.1518G>A (p.Leu506=)
c.1614G>A (p.Leu538=)
c.2043G>A (p.Leu681=)
c.2019G>A (p.Leu673=)
c.1929G>A (p.Leu643=)
c.1905G>A (p.Leu635=)
c.1737G>A (p.Leu579=)
c.1749G>A (p.Leu583=)
c.1974G>A (p.Leu658=)
c.1935G>A (p.Leu645=)
c.1563G>A (p.Leu521=)
c.1911G>A (p.Leu637=)
4g.113282740G>CCA440827557ANK2c.1998G>C (p.Leu666=)
c.1992G>C (p.Leu664=)
n.5273G>C
n.2154G>C
n.2083G>C
n.1959G>C
n.1023G>C
n.944G>C
c.1947G>C (p.Leu649=)
c.1884G>C (p.Leu628=)
c.1860G>C (p.Leu620=)
c.1785G>C (p.Leu595=)
c.1863G>C (p.Leu621=)
c.1662G>C (p.Leu554=)
c.1761G>C (p.Leu587=)
c.1848G>C (p.Leu616=)
c.1464G>C (p.Leu488=)
c.1518G>C (p.Leu506=)
c.1614G>C (p.Leu538=)
c.2043G>C (p.Leu681=)
c.2019G>C (p.Leu673=)
c.1929G>C (p.Leu643=)
c.1905G>C (p.Leu635=)
c.1737G>C (p.Leu579=)
c.1749G>C (p.Leu583=)
c.1974G>C (p.Leu658=)
c.1935G>C (p.Leu645=)
c.1563G>C (p.Leu521=)
c.1911G>C (p.Leu637=)
4g.113282740G>TCA440827560ANK2c.1998G>T (p.Leu666=)
c.1992G>T (p.Leu664=)
n.5273G>T
n.2154G>T
n.2083G>T
n.1959G>T
n.1023G>T
n.944G>T
c.1947G>T (p.Leu649=)
c.1884G>T (p.Leu628=)
c.1860G>T (p.Leu620=)
c.1785G>T (p.Leu595=)
c.1863G>T (p.Leu621=)
c.1662G>T (p.Leu554=)
c.1761G>T (p.Leu587=)
c.1848G>T (p.Leu616=)
c.1464G>T (p.Leu488=)
c.1518G>T (p.Leu506=)
c.1614G>T (p.Leu538=)
c.2043G>T (p.Leu681=)
c.2019G>T (p.Leu673=)
c.1929G>T (p.Leu643=)
c.1905G>T (p.Leu635=)
c.1737G>T (p.Leu579=)
c.1749G>T (p.Leu583=)
c.1974G>T (p.Leu658=)
c.1935G>T (p.Leu645=)
c.1563G>T (p.Leu521=)
c.1911G>T (p.Leu637=)
4g.113282741A>CCA357913942ANK2c.1999A>C (p.Asn667His)
c.1993A>C (p.Asn665His)
n.5274A>C
n.2155A>C
n.2084A>C
n.1960A>C
n.1024A>C
n.945A>C
c.1948A>C (p.Asn650His)
c.1885A>C (p.Asn629His)
c.1861A>C (p.Asn621His)
c.1786A>C (p.Asn596His)
c.1864A>C (p.Asn622His)
c.1663A>C (p.Asn555His)
c.1762A>C (p.Asn588His)
c.1849A>C (p.Asn617His)
c.1465A>C (p.Asn489His)
c.1519A>C (p.Asn507His)
c.1615A>C (p.Asn539His)
c.2044A>C (p.Asn682His)
c.2020A>C (p.Asn674His)
c.1930A>C (p.Asn644His)
c.1906A>C (p.Asn636His)
c.1738A>C (p.Asn580His)
c.1750A>C (p.Asn584His)
c.1975A>C (p.Asn659His)
c.1936A>C (p.Asn646His)
c.1564A>C (p.Asn522His)
c.1912A>C (p.Asn638His)
4g.113282741A>GCA357913940ANK2c.1999A>G (p.Asn667Asp)
c.1993A>G (p.Asn665Asp)
n.5274A>G
n.2155A>G
n.2084A>G
n.1960A>G
n.1024A>G
n.945A>G
c.1948A>G (p.Asn650Asp)
c.1885A>G (p.Asn629Asp)
c.1861A>G (p.Asn621Asp)
c.1786A>G (p.Asn596Asp)
c.1864A>G (p.Asn622Asp)
c.1663A>G (p.Asn555Asp)
c.1762A>G (p.Asn588Asp)
c.1849A>G (p.Asn617Asp)
c.1465A>G (p.Asn489Asp)
c.1519A>G (p.Asn507Asp)
c.1615A>G (p.Asn539Asp)
c.2044A>G (p.Asn682Asp)
c.2020A>G (p.Asn674Asp)
c.1930A>G (p.Asn644Asp)
c.1906A>G (p.Asn636Asp)
c.1738A>G (p.Asn580Asp)
c.1750A>G (p.Asn584Asp)
c.1975A>G (p.Asn659Asp)
c.1936A>G (p.Asn646Asp)
c.1564A>G (p.Asn522Asp)
c.1912A>G (p.Asn638Asp)
4g.113282741A>TCA357913939ANK2c.1999A>T (p.Asn667Tyr)
c.1993A>T (p.Asn665Tyr)
n.5274A>T
n.2155A>T
n.2084A>T
n.1960A>T
n.1024A>T
n.945A>T
c.1948A>T (p.Asn650Tyr)
c.1885A>T (p.Asn629Tyr)
c.1861A>T (p.Asn621Tyr)
c.1786A>T (p.Asn596Tyr)
c.1864A>T (p.Asn622Tyr)
c.1663A>T (p.Asn555Tyr)
c.1762A>T (p.Asn588Tyr)
c.1849A>T (p.Asn617Tyr)
c.1465A>T (p.Asn489Tyr)
c.1519A>T (p.Asn507Tyr)
c.1615A>T (p.Asn539Tyr)
c.2044A>T (p.Asn682Tyr)
c.2020A>T (p.Asn674Tyr)
c.1930A>T (p.Asn644Tyr)
c.1906A>T (p.Asn636Tyr)
c.1738A>T (p.Asn580Tyr)
c.1750A>T (p.Asn584Tyr)
c.1975A>T (p.Asn659Tyr)
c.1936A>T (p.Asn646Tyr)
c.1564A>T (p.Asn522Tyr)
c.1912A>T (p.Asn638Tyr)
4g.113282742A>CCA16611571ANK2c.2000A>C (p.Asn667Thr)
c.1994A>C (p.Asn665Thr)
n.5275A>C
n.2156A>C
n.2085A>C
n.1961A>C
n.1025A>C
n.946A>C
c.1949A>C (p.Asn650Thr)
c.1886A>C (p.Asn629Thr)
c.1862A>C (p.Asn621Thr)
c.1787A>C (p.Asn596Thr)
c.1865A>C (p.Asn622Thr)
c.1664A>C (p.Asn555Thr)
c.1763A>C (p.Asn588Thr)
c.1850A>C (p.Asn617Thr)
c.1466A>C (p.Asn489Thr)
c.1520A>C (p.Asn507Thr)
c.1616A>C (p.Asn539Thr)
c.2045A>C (p.Asn682Thr)
c.2021A>C (p.Asn674Thr)
c.1931A>C (p.Asn644Thr)
c.1907A>C (p.Asn636Thr)
c.1739A>C (p.Asn580Thr)
c.1751A>C (p.Asn584Thr)
c.1976A>C (p.Asn659Thr)
c.1937A>C (p.Asn646Thr)
c.1565A>C (p.Asn522Thr)
c.1913A>C (p.Asn638Thr)
 ClinVar dbSNP gnomAD v4
4g.113282742A>GCA357913943ANK2c.2000A>G (p.Asn667Ser)
c.1994A>G (p.Asn665Ser)
n.5275A>G
n.2156A>G
n.2085A>G
n.1961A>G
n.1025A>G
n.946A>G
c.1949A>G (p.Asn650Ser)
c.1886A>G (p.Asn629Ser)
c.1862A>G (p.Asn621Ser)
c.1787A>G (p.Asn596Ser)
c.1865A>G (p.Asn622Ser)
c.1664A>G (p.Asn555Ser)
c.1763A>G (p.Asn588Ser)
c.1850A>G (p.Asn617Ser)
c.1466A>G (p.Asn489Ser)
c.1520A>G (p.Asn507Ser)
c.1616A>G (p.Asn539Ser)
c.2045A>G (p.Asn682Ser)
c.2021A>G (p.Asn674Ser)
c.1931A>G (p.Asn644Ser)
c.1907A>G (p.Asn636Ser)
c.1739A>G (p.Asn580Ser)
c.1751A>G (p.Asn584Ser)
c.1976A>G (p.Asn659Ser)
c.1937A>G (p.Asn646Ser)
c.1565A>G (p.Asn522Ser)
c.1913A>G (p.Asn638Ser)
4g.113282742A>TCA3050413ANK2c.2000A>T (p.Asn667Ile)
c.1994A>T (p.Asn665Ile)
n.5275A>T
n.2156A>T
n.2085A>T
n.1961A>T
n.1025A>T
n.946A>T
c.1949A>T (p.Asn650Ile)
c.1886A>T (p.Asn629Ile)
c.1862A>T (p.Asn621Ile)
c.1787A>T (p.Asn596Ile)
c.1865A>T (p.Asn622Ile)
c.1664A>T (p.Asn555Ile)
c.1763A>T (p.Asn588Ile)
c.1850A>T (p.Asn617Ile)
c.1466A>T (p.Asn489Ile)
c.1520A>T (p.Asn507Ile)
c.1616A>T (p.Asn539Ile)
c.2045A>T (p.Asn682Ile)
c.2021A>T (p.Asn674Ile)
c.1931A>T (p.Asn644Ile)
c.1907A>T (p.Asn636Ile)
c.1739A>T (p.Asn580Ile)
c.1751A>T (p.Asn584Ile)
c.1976A>T (p.Asn659Ile)
c.1937A>T (p.Asn646Ile)
c.1565A>T (p.Asn522Ile)
c.1913A>T (p.Asn638Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113282743C>ACA357913944ANK2c.2001C>A (p.Asn667Lys)
c.1995C>A (p.Asn665Lys)
n.5276C>A
n.2157C>A
n.2086C>A
n.1962C>A
n.1026C>A
n.947C>A
c.1950C>A (p.Asn650Lys)
c.1887C>A (p.Asn629Lys)
c.1863C>A (p.Asn621Lys)
c.1788C>A (p.Asn596Lys)
c.1866C>A (p.Asn622Lys)
c.1665C>A (p.Asn555Lys)
c.1764C>A (p.Asn588Lys)
c.1851C>A (p.Asn617Lys)
c.1467C>A (p.Asn489Lys)
c.1521C>A (p.Asn507Lys)
c.1617C>A (p.Asn539Lys)
c.2046C>A (p.Asn682Lys)
c.2022C>A (p.Asn674Lys)
c.1932C>A (p.Asn644Lys)
c.1908C>A (p.Asn636Lys)
c.1740C>A (p.Asn580Lys)
c.1752C>A (p.Asn584Lys)
c.1977C>A (p.Asn659Lys)
c.1938C>A (p.Asn646Lys)
c.1566C>A (p.Asn522Lys)
c.1914C>A (p.Asn638Lys)
 ClinVar dbSNP
4g.113282743C>GCA103788703ANK2c.2001C>G (p.Asn667Lys)
c.1995C>G (p.Asn665Lys)
n.5276C>G
n.2157C>G
n.2086C>G
n.1962C>G
n.1026C>G
n.947C>G
c.1950C>G (p.Asn650Lys)
c.1887C>G (p.Asn629Lys)
c.1863C>G (p.Asn621Lys)
c.1788C>G (p.Asn596Lys)
c.1866C>G (p.Asn622Lys)
c.1665C>G (p.Asn555Lys)
c.1764C>G (p.Asn588Lys)
c.1851C>G (p.Asn617Lys)
c.1467C>G (p.Asn489Lys)
c.1521C>G (p.Asn507Lys)
c.1617C>G (p.Asn539Lys)
c.2046C>G (p.Asn682Lys)
c.2022C>G (p.Asn674Lys)
c.1932C>G (p.Asn644Lys)
c.1908C>G (p.Asn636Lys)
c.1740C>G (p.Asn580Lys)
c.1752C>G (p.Asn584Lys)
c.1977C>G (p.Asn659Lys)
c.1938C>G (p.Asn646Lys)
c.1566C>G (p.Asn522Lys)
c.1914C>G (p.Asn638Lys)
 dbSNP gnomAD v4
4g.113282743C>TCA440827580ANK2c.2001C>T (p.Asn667=)
c.1995C>T (p.Asn665=)
n.5276C>T
n.2157C>T
n.2086C>T
n.1962C>T
n.1026C>T
n.947C>T
c.1950C>T (p.Asn650=)
c.1887C>T (p.Asn629=)
c.1863C>T (p.Asn621=)
c.1788C>T (p.Asn596=)
c.1866C>T (p.Asn622=)
c.1665C>T (p.Asn555=)
c.1764C>T (p.Asn588=)
c.1851C>T (p.Asn617=)
c.1467C>T (p.Asn489=)
c.1521C>T (p.Asn507=)
c.1617C>T (p.Asn539=)
c.2046C>T (p.Asn682=)
c.2022C>T (p.Asn674=)
c.1932C>T (p.Asn644=)
c.1908C>T (p.Asn636=)
c.1740C>T (p.Asn580=)
c.1752C>T (p.Asn584=)
c.1977C>T (p.Asn659=)
c.1938C>T (p.Asn646=)
c.1566C>T (p.Asn522=)
c.1914C>T (p.Asn638=)
 gnomAD v4
4g.113282744T>ACA357913945ANK2c.2002T>A (p.Tyr668Asn)
c.1996T>A (p.Tyr666Asn)
n.5277T>A
n.2158T>A
n.2087T>A
n.1963T>A
n.1027T>A
n.948T>A
c.1951T>A (p.Tyr651Asn)
c.1888T>A (p.Tyr630Asn)
c.1864T>A (p.Tyr622Asn)
c.1789T>A (p.Tyr597Asn)
c.1867T>A (p.Tyr623Asn)
c.1666T>A (p.Tyr556Asn)
c.1765T>A (p.Tyr589Asn)
c.1852T>A (p.Tyr618Asn)
c.1468T>A (p.Tyr490Asn)
c.1522T>A (p.Tyr508Asn)
c.1618T>A (p.Tyr540Asn)
c.2047T>A (p.Tyr683Asn)
c.2023T>A (p.Tyr675Asn)
c.1933T>A (p.Tyr645Asn)
c.1909T>A (p.Tyr637Asn)
c.1741T>A (p.Tyr581Asn)
c.1753T>A (p.Tyr585Asn)
c.1978T>A (p.Tyr660Asn)
c.1939T>A (p.Tyr647Asn)
c.1567T>A (p.Tyr523Asn)
c.1915T>A (p.Tyr639Asn)
4g.113282744T>CCA357913946ANK2c.2002T>C (p.Tyr668His)
c.1996T>C (p.Tyr666His)
n.5277T>C
n.2158T>C
n.2087T>C
n.1963T>C
n.1027T>C
n.948T>C
c.1951T>C (p.Tyr651His)
c.1888T>C (p.Tyr630His)
c.1864T>C (p.Tyr622His)
c.1789T>C (p.Tyr597His)
c.1867T>C (p.Tyr623His)
c.1666T>C (p.Tyr556His)
c.1765T>C (p.Tyr589His)
c.1852T>C (p.Tyr618His)
c.1468T>C (p.Tyr490His)
c.1522T>C (p.Tyr508His)
c.1618T>C (p.Tyr540His)
c.2047T>C (p.Tyr683His)
c.2023T>C (p.Tyr675His)
c.1933T>C (p.Tyr645His)
c.1909T>C (p.Tyr637His)
c.1741T>C (p.Tyr581His)
c.1753T>C (p.Tyr585His)
c.1978T>C (p.Tyr660His)
c.1939T>C (p.Tyr647His)
c.1567T>C (p.Tyr523His)
c.1915T>C (p.Tyr639His)
4g.113282744T>GCA357913947ANK2c.2002T>G (p.Tyr668Asp)
c.1996T>G (p.Tyr666Asp)
n.5277T>G
n.2158T>G
n.2087T>G
n.1963T>G
n.1027T>G
n.948T>G
c.1951T>G (p.Tyr651Asp)
c.1888T>G (p.Tyr630Asp)
c.1864T>G (p.Tyr622Asp)
c.1789T>G (p.Tyr597Asp)
c.1867T>G (p.Tyr623Asp)
c.1666T>G (p.Tyr556Asp)
c.1765T>G (p.Tyr589Asp)
c.1852T>G (p.Tyr618Asp)
c.1468T>G (p.Tyr490Asp)
c.1522T>G (p.Tyr508Asp)
c.1618T>G (p.Tyr540Asp)
c.2047T>G (p.Tyr683Asp)
c.2023T>G (p.Tyr675Asp)
c.1933T>G (p.Tyr645Asp)
c.1909T>G (p.Tyr637Asp)
c.1741T>G (p.Tyr581Asp)
c.1753T>G (p.Tyr585Asp)
c.1978T>G (p.Tyr660Asp)
c.1939T>G (p.Tyr647Asp)
c.1567T>G (p.Tyr523Asp)
c.1915T>G (p.Tyr639Asp)
4g.113282744_113282745insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTACA2671818208ANK2c.2002_2003insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr668PhefsTer3)
c.1996_1997insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr666PhefsTer3)
n.5277_5278insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA
n.2158_2159insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA
n.2087_2088insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA
n.1963_1964insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA
n.1027_1028insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA
n.948_949insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA
c.1951_1952insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr651PhefsTer3)
c.1888_1889insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr630PhefsTer3)
c.1864_1865insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr622PhefsTer3)
c.1789_1790insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr597PhefsTer3)
c.1867_1868insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr623PhefsTer3)
c.1666_1667insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr556PhefsTer3)
c.1765_1766insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr589PhefsTer3)
c.1852_1853insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr618PhefsTer3)
c.1468_1469insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr490PhefsTer3)
c.1522_1523insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr508PhefsTer3)
c.1618_1619insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr540PhefsTer3)
c.2047_2048insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr683PhefsTer3)
c.2023_2024insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr675PhefsTer3)
c.1933_1934insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr645PhefsTer3)
c.1909_1910insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr637PhefsTer3)
c.1741_1742insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr581PhefsTer3)
c.1753_1754insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr585PhefsTer3)
c.1978_1979insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr660PhefsTer3)
c.1939_1940insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr647PhefsTer3)
c.1567_1568insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr523PhefsTer3)
c.1915_1916insTCAAATAATGTCCCTCCCAGTGACCTTGGCTCTA (p.Tyr639PhefsTer3)
 gnomAD v4
4g.113282745A>CCA357913948ANK2c.2003A>C (p.Tyr668Ser)
c.1997A>C (p.Tyr666Ser)
n.5278A>C
n.2159A>C
n.2088A>C
n.1964A>C
n.1028A>C
n.949A>C
c.1952A>C (p.Tyr651Ser)
c.1889A>C (p.Tyr630Ser)
c.1865A>C (p.Tyr622Ser)
c.1790A>C (p.Tyr597Ser)
c.1868A>C (p.Tyr623Ser)
c.1667A>C (p.Tyr556Ser)
c.1766A>C (p.Tyr589Ser)
c.1853A>C (p.Tyr618Ser)
c.1469A>C (p.Tyr490Ser)
c.1523A>C (p.Tyr508Ser)
c.1619A>C (p.Tyr540Ser)
c.2048A>C (p.Tyr683Ser)
c.2024A>C (p.Tyr675Ser)
c.1934A>C (p.Tyr645Ser)
c.1910A>C (p.Tyr637Ser)
c.1742A>C (p.Tyr581Ser)
c.1754A>C (p.Tyr585Ser)
c.1979A>C (p.Tyr660Ser)
c.1940A>C (p.Tyr647Ser)
c.1568A>C (p.Tyr523Ser)
c.1916A>C (p.Tyr639Ser)
4g.113282745A>GCA357913949ANK2c.2003A>G (p.Tyr668Cys)
c.1997A>G (p.Tyr666Cys)
n.5278A>G
n.2159A>G
n.2088A>G
n.1964A>G
n.1028A>G
n.949A>G
c.1952A>G (p.Tyr651Cys)
c.1889A>G (p.Tyr630Cys)
c.1865A>G (p.Tyr622Cys)
c.1790A>G (p.Tyr597Cys)
c.1868A>G (p.Tyr623Cys)
c.1667A>G (p.Tyr556Cys)
c.1766A>G (p.Tyr589Cys)
c.1853A>G (p.Tyr618Cys)
c.1469A>G (p.Tyr490Cys)
c.1523A>G (p.Tyr508Cys)
c.1619A>G (p.Tyr540Cys)
c.2048A>G (p.Tyr683Cys)
c.2024A>G (p.Tyr675Cys)
c.1934A>G (p.Tyr645Cys)
c.1910A>G (p.Tyr637Cys)
c.1742A>G (p.Tyr581Cys)
c.1754A>G (p.Tyr585Cys)
c.1979A>G (p.Tyr660Cys)
c.1940A>G (p.Tyr647Cys)
c.1568A>G (p.Tyr523Cys)
c.1916A>G (p.Tyr639Cys)
4g.113282745A>TCA357913950ANK2c.2003A>T (p.Tyr668Phe)
c.1997A>T (p.Tyr666Phe)
n.5278A>T
n.2159A>T
n.2088A>T
n.1964A>T
n.1028A>T
n.949A>T
c.1952A>T (p.Tyr651Phe)
c.1889A>T (p.Tyr630Phe)
c.1865A>T (p.Tyr622Phe)
c.1790A>T (p.Tyr597Phe)
c.1868A>T (p.Tyr623Phe)
c.1667A>T (p.Tyr556Phe)
c.1766A>T (p.Tyr589Phe)
c.1853A>T (p.Tyr618Phe)
c.1469A>T (p.Tyr490Phe)
c.1523A>T (p.Tyr508Phe)
c.1619A>T (p.Tyr540Phe)
c.2048A>T (p.Tyr683Phe)
c.2024A>T (p.Tyr675Phe)
c.1934A>T (p.Tyr645Phe)
c.1910A>T (p.Tyr637Phe)
c.1742A>T (p.Tyr581Phe)
c.1754A>T (p.Tyr585Phe)
c.1979A>T (p.Tyr660Phe)
c.1940A>T (p.Tyr647Phe)
c.1568A>T (p.Tyr523Phe)
c.1916A>T (p.Tyr639Phe)
4g.113282746T>ACA357913951ANK2c.2004T>A (p.Tyr668Ter)
c.1998T>A (p.Tyr666Ter)
n.5279T>A
n.2160T>A
n.2089T>A
n.1965T>A
n.1029T>A
n.950T>A
c.1953T>A (p.Tyr651Ter)
c.1890T>A (p.Tyr630Ter)
c.1866T>A (p.Tyr622Ter)
c.1791T>A (p.Tyr597Ter)
c.1869T>A (p.Tyr623Ter)
c.1668T>A (p.Tyr556Ter)
c.1767T>A (p.Tyr589Ter)
c.1854T>A (p.Tyr618Ter)
c.1470T>A (p.Tyr490Ter)
c.1524T>A (p.Tyr508Ter)
c.1620T>A (p.Tyr540Ter)
c.2049T>A (p.Tyr683Ter)
c.2025T>A (p.Tyr675Ter)
c.1935T>A (p.Tyr645Ter)
c.1911T>A (p.Tyr637Ter)
c.1743T>A (p.Tyr581Ter)
c.1755T>A (p.Tyr585Ter)
c.1980T>A (p.Tyr660Ter)
c.1941T>A (p.Tyr647Ter)
c.1569T>A (p.Tyr523Ter)
c.1917T>A (p.Tyr639Ter)

Number of alleles fetched