Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.55228280A=CA2305004534TCF4c.1961T= (p.Leu654=)
c.1841T= (p.Leu614=)
n.1641T=
c.1889T= (p.Leu630=)
c.*1669T= (n.*1669T=)
c.1571T= (p.Leu524=)
c.*1839T= (n.*1839T=)
c.1313T= (p.Leu438=)
n.2016T=
n.1655T=
c.1559T=
c.1988T= (p.Leu663=)
c.*1572T= (n.*1572T=)
c.1949T= (p.Leu650=)
c.2267T= (p.Leu756=)
c.1481T= (p.Leu494=)
c.1559T= (p.Leu520=)
c.1877T= (p.Leu626=)
c.1823T= (p.Leu608=)
c.1748T= (p.Leu583=)
c.1469T= (p.Leu490=)
n.5484T=
c.1736T= (p.Leu579=)
c.1979T= (p.Leu660=)
c.1697T= (p.Leu566=)
c.1781T= (p.Leu594=)
c.1940T= (p.Leu647=)
c.1769T= (p.Leu590=)
c.1874T= (p.Leu625=)
n.984T=
c.1301T= (p.Leu434=)
c.191T= (p.Leu64=)
c.1958T= (p.Leu653=)
c.1886T= (p.Leu629=)
c.1835T= (p.Leu612=)
c.1751T= (p.Leu584=)
c.1478T= (p.Leu493=)
c.2264T= (p.Leu755=)
c.2255T= (p.Leu752=)
c.2252T= (p.Leu751=)
c.1955T= (p.Leu652=)
c.1466T= (p.Leu489=)
c.1946T= (p.Leu649=)
c.1871T= (p.Leu624=)
c.1832T= (p.Leu611=)
c.1745T= (p.Leu582=)
c.1739T= (p.Leu580=)
c.1568T= (p.Leu523=)
c.1724T= (p.Leu575=)
c.1892T= (p.Leu631=)
18g.55228280A>CCA402527645TCF4c.1961T>G (p.Leu654Trp)
c.1841T>G (p.Leu614Trp)
n.1641T>G
c.1889T>G (p.Leu630Trp)
c.*1669T>G (n.*1669T>G)
c.1571T>G (p.Leu524Trp)
c.*1839T>G (n.*1839T>G)
c.1313T>G (p.Leu438Trp)
n.2016T>G
n.1655T>G
c.1559T>G
c.1988T>G (p.Leu663Trp)
c.*1572T>G (n.*1572T>G)
c.1949T>G (p.Leu650Trp)
c.2267T>G (p.Leu756Trp)
c.1481T>G (p.Leu494Trp)
c.1559T>G (p.Leu520Trp)
c.1877T>G (p.Leu626Trp)
c.1823T>G (p.Leu608Trp)
c.1748T>G (p.Leu583Trp)
c.1469T>G (p.Leu490Trp)
n.5484T>G
c.1736T>G (p.Leu579Trp)
c.1979T>G (p.Leu660Trp)
c.1697T>G (p.Leu566Trp)
c.1781T>G (p.Leu594Trp)
c.1940T>G (p.Leu647Trp)
c.1769T>G (p.Leu590Trp)
c.1874T>G (p.Leu625Trp)
n.984T>G
c.1301T>G (p.Leu434Trp)
c.191T>G (p.Leu64Trp)
c.1958T>G (p.Leu653Trp)
c.1886T>G (p.Leu629Trp)
c.1835T>G (p.Leu612Trp)
c.1751T>G (p.Leu584Trp)
c.1478T>G (p.Leu493Trp)
c.2264T>G (p.Leu755Trp)
c.2255T>G (p.Leu752Trp)
c.2252T>G (p.Leu751Trp)
c.1955T>G (p.Leu652Trp)
c.1466T>G (p.Leu489Trp)
c.1946T>G (p.Leu649Trp)
c.1871T>G (p.Leu624Trp)
c.1832T>G (p.Leu611Trp)
c.1745T>G (p.Leu582Trp)
c.1739T>G (p.Leu580Trp)
c.1568T>G (p.Leu523Trp)
c.1724T>G (p.Leu575Trp)
c.1892T>G (p.Leu631Trp)
18g.55228280A>GCA402527647TCF4c.1961T>C (p.Leu654Ser)
c.1841T>C (p.Leu614Ser)
n.1641T>C
c.1889T>C (p.Leu630Ser)
c.*1669T>C (n.*1669T>C)
c.1571T>C (p.Leu524Ser)
c.*1839T>C (n.*1839T>C)
c.1313T>C (p.Leu438Ser)
n.2016T>C
n.1655T>C
c.1559T>C
c.1988T>C (p.Leu663Ser)
c.*1572T>C (n.*1572T>C)
c.1949T>C (p.Leu650Ser)
c.2267T>C (p.Leu756Ser)
c.1481T>C (p.Leu494Ser)
c.1559T>C (p.Leu520Ser)
c.1877T>C (p.Leu626Ser)
c.1823T>C (p.Leu608Ser)
c.1748T>C (p.Leu583Ser)
c.1469T>C (p.Leu490Ser)
n.5484T>C
c.1736T>C (p.Leu579Ser)
c.1979T>C (p.Leu660Ser)
c.1697T>C (p.Leu566Ser)
c.1781T>C (p.Leu594Ser)
c.1940T>C (p.Leu647Ser)
c.1769T>C (p.Leu590Ser)
c.1874T>C (p.Leu625Ser)
n.984T>C
c.1301T>C (p.Leu434Ser)
c.191T>C (p.Leu64Ser)
c.1958T>C (p.Leu653Ser)
c.1886T>C (p.Leu629Ser)
c.1835T>C (p.Leu612Ser)
c.1751T>C (p.Leu584Ser)
c.1478T>C (p.Leu493Ser)
c.2264T>C (p.Leu755Ser)
c.2255T>C (p.Leu752Ser)
c.2252T>C (p.Leu751Ser)
c.1955T>C (p.Leu652Ser)
c.1466T>C (p.Leu489Ser)
c.1946T>C (p.Leu649Ser)
c.1871T>C (p.Leu624Ser)
c.1832T>C (p.Leu611Ser)
c.1745T>C (p.Leu582Ser)
c.1739T>C (p.Leu580Ser)
c.1568T>C (p.Leu523Ser)
c.1724T>C (p.Leu575Ser)
c.1892T>C (p.Leu631Ser)
18g.55228280A>TCA402527646TCF4c.1961T>A (p.Leu654Ter)
c.1841T>A (p.Leu614Ter)
n.1641T>A
c.1889T>A (p.Leu630Ter)
c.*1669T>A (n.*1669T>A)
c.1571T>A (p.Leu524Ter)
c.*1839T>A (n.*1839T>A)
c.1313T>A (p.Leu438Ter)
n.2016T>A
n.1655T>A
c.1559T>A
c.1988T>A (p.Leu663Ter)
c.*1572T>A (n.*1572T>A)
c.1949T>A (p.Leu650Ter)
c.2267T>A (p.Leu756Ter)
c.1481T>A (p.Leu494Ter)
c.1559T>A (p.Leu520Ter)
c.1877T>A (p.Leu626Ter)
c.1823T>A (p.Leu608Ter)
c.1748T>A (p.Leu583Ter)
c.1469T>A (p.Leu490Ter)
n.5484T>A
c.1736T>A (p.Leu579Ter)
c.1979T>A (p.Leu660Ter)
c.1697T>A (p.Leu566Ter)
c.1781T>A (p.Leu594Ter)
c.1940T>A (p.Leu647Ter)
c.1769T>A (p.Leu590Ter)
c.1874T>A (p.Leu625Ter)
n.984T>A
c.1301T>A (p.Leu434Ter)
c.191T>A (p.Leu64Ter)
c.1958T>A (p.Leu653Ter)
c.1886T>A (p.Leu629Ter)
c.1835T>A (p.Leu612Ter)
c.1751T>A (p.Leu584Ter)
c.1478T>A (p.Leu493Ter)
c.2264T>A (p.Leu755Ter)
c.2255T>A (p.Leu752Ter)
c.2252T>A (p.Leu751Ter)
c.1955T>A (p.Leu652Ter)
c.1466T>A (p.Leu489Ter)
c.1946T>A (p.Leu649Ter)
c.1871T>A (p.Leu624Ter)
c.1832T>A (p.Leu611Ter)
c.1745T>A (p.Leu582Ter)
c.1739T>A (p.Leu580Ter)
c.1568T>A (p.Leu523Ter)
c.1724T>A (p.Leu575Ter)
c.1892T>A (p.Leu631Ter)
 dbSNP
18g.55228281A>CCA402527648TCF4c.1960T>G (p.Leu654Val)
c.1840T>G (p.Leu614Val)
n.1640T>G
c.1888T>G (p.Leu630Val)
c.*1668T>G (n.*1668T>G)
c.1570T>G (p.Leu524Val)
c.*1838T>G (n.*1838T>G)
c.1312T>G (p.Leu438Val)
n.2015T>G
n.1654T>G
c.1558T>G
c.1987T>G (p.Leu663Val)
c.*1571T>G (n.*1571T>G)
c.1948T>G (p.Leu650Val)
c.2266T>G (p.Leu756Val)
c.1480T>G (p.Leu494Val)
c.1558T>G (p.Leu520Val)
c.1876T>G (p.Leu626Val)
c.1822T>G (p.Leu608Val)
c.1747T>G (p.Leu583Val)
c.1468T>G (p.Leu490Val)
n.5483T>G
c.1735T>G (p.Leu579Val)
c.1978T>G (p.Leu660Val)
c.1696T>G (p.Leu566Val)
c.1780T>G (p.Leu594Val)
c.1939T>G (p.Leu647Val)
c.1768T>G (p.Leu590Val)
c.1873T>G (p.Leu625Val)
n.983T>G
c.1300T>G (p.Leu434Val)
c.190T>G (p.Leu64Val)
c.1957T>G (p.Leu653Val)
c.1885T>G (p.Leu629Val)
c.1834T>G (p.Leu612Val)
c.1750T>G (p.Leu584Val)
c.1477T>G (p.Leu493Val)
c.2263T>G (p.Leu755Val)
c.2254T>G (p.Leu752Val)
c.2251T>G (p.Leu751Val)
c.1954T>G (p.Leu652Val)
c.1465T>G (p.Leu489Val)
c.1945T>G (p.Leu649Val)
c.1870T>G (p.Leu624Val)
c.1831T>G (p.Leu611Val)
c.1744T>G (p.Leu582Val)
c.1738T>G (p.Leu580Val)
c.1567T>G (p.Leu523Val)
c.1723T>G (p.Leu575Val)
c.1891T>G (p.Leu631Val)
18g.55228281A>GCA504001589TCF4c.1960T>C (p.Leu654=)
c.1840T>C (p.Leu614=)
n.1640T>C
c.1888T>C (p.Leu630=)
c.*1668T>C (n.*1668T>C)
c.1570T>C (p.Leu524=)
c.*1838T>C (n.*1838T>C)
c.1312T>C (p.Leu438=)
n.2015T>C
n.1654T>C
c.1558T>C
c.1987T>C (p.Leu663=)
c.*1571T>C (n.*1571T>C)
c.1948T>C (p.Leu650=)
c.2266T>C (p.Leu756=)
c.1480T>C (p.Leu494=)
c.1558T>C (p.Leu520=)
c.1876T>C (p.Leu626=)
c.1822T>C (p.Leu608=)
c.1747T>C (p.Leu583=)
c.1468T>C (p.Leu490=)
n.5483T>C
c.1735T>C (p.Leu579=)
c.1978T>C (p.Leu660=)
c.1696T>C (p.Leu566=)
c.1780T>C (p.Leu594=)
c.1939T>C (p.Leu647=)
c.1768T>C (p.Leu590=)
c.1873T>C (p.Leu625=)
n.983T>C
c.1300T>C (p.Leu434=)
c.190T>C (p.Leu64=)
c.1957T>C (p.Leu653=)
c.1885T>C (p.Leu629=)
c.1834T>C (p.Leu612=)
c.1750T>C (p.Leu584=)
c.1477T>C (p.Leu493=)
c.2263T>C (p.Leu755=)
c.2254T>C (p.Leu752=)
c.2251T>C (p.Leu751=)
c.1954T>C (p.Leu652=)
c.1465T>C (p.Leu489=)
c.1945T>C (p.Leu649=)
c.1870T>C (p.Leu624=)
c.1831T>C (p.Leu611=)
c.1744T>C (p.Leu582=)
c.1738T>C (p.Leu580=)
c.1567T>C (p.Leu523=)
c.1723T>C (p.Leu575=)
c.1891T>C (p.Leu631=)
18g.55228281A>TCA402527649TCF4c.1960T>A (p.Leu654Met)
c.1840T>A (p.Leu614Met)
n.1640T>A
c.1888T>A (p.Leu630Met)
c.*1668T>A (n.*1668T>A)
c.1570T>A (p.Leu524Met)
c.*1838T>A (n.*1838T>A)
c.1312T>A (p.Leu438Met)
n.2015T>A
n.1654T>A
c.1558T>A
c.1987T>A (p.Leu663Met)
c.*1571T>A (n.*1571T>A)
c.1948T>A (p.Leu650Met)
c.2266T>A (p.Leu756Met)
c.1480T>A (p.Leu494Met)
c.1558T>A (p.Leu520Met)
c.1876T>A (p.Leu626Met)
c.1822T>A (p.Leu608Met)
c.1747T>A (p.Leu583Met)
c.1468T>A (p.Leu490Met)
n.5483T>A
c.1735T>A (p.Leu579Met)
c.1978T>A (p.Leu660Met)
c.1696T>A (p.Leu566Met)
c.1780T>A (p.Leu594Met)
c.1939T>A (p.Leu647Met)
c.1768T>A (p.Leu590Met)
c.1873T>A (p.Leu625Met)
n.983T>A
c.1300T>A (p.Leu434Met)
c.190T>A (p.Leu64Met)
c.1957T>A (p.Leu653Met)
c.1885T>A (p.Leu629Met)
c.1834T>A (p.Leu612Met)
c.1750T>A (p.Leu584Met)
c.1477T>A (p.Leu493Met)
c.2263T>A (p.Leu755Met)
c.2254T>A (p.Leu752Met)
c.2251T>A (p.Leu751Met)
c.1954T>A (p.Leu652Met)
c.1465T>A (p.Leu489Met)
c.1945T>A (p.Leu649Met)
c.1870T>A (p.Leu624Met)
c.1831T>A (p.Leu611Met)
c.1744T>A (p.Leu582Met)
c.1738T>A (p.Leu580Met)
c.1567T>A (p.Leu523Met)
c.1723T>A (p.Leu575Met)
c.1891T>A (p.Leu631Met)
18g.55228282G>ACA504001595TCF4c.1959C>T (p.Ser653=)
c.1839C>T (p.Ser613=)
n.1639C>T
c.1887C>T (p.Ser629=)
c.*1667C>T (n.*1667C>T)
c.1569C>T (p.Ser523=)
c.*1837C>T (n.*1837C>T)
c.1311C>T (p.Ser437=)
n.2014C>T
n.1653C>T
c.1557C>T
c.1986C>T (p.Ser662=)
c.*1570C>T (n.*1570C>T)
c.1947C>T (p.Ser649=)
c.2265C>T (p.Ser755=)
c.1479C>T (p.Ser493=)
c.1557C>T (p.Ser519=)
c.1875C>T (p.Ser625=)
c.1821C>T (p.Ser607=)
c.1746C>T (p.Ser582=)
c.1467C>T (p.Ser489=)
n.5482C>T
c.1734C>T (p.Ser578=)
c.1977C>T (p.Ser659=)
c.1695C>T (p.Ser565=)
c.1779C>T (p.Ser593=)
c.1938C>T (p.Ser646=)
c.1767C>T (p.Ser589=)
c.1872C>T (p.Ser624=)
n.982C>T
c.1299C>T (p.Ser433=)
c.189C>T (p.Ser63=)
c.1956C>T (p.Ser652=)
c.1884C>T (p.Ser628=)
c.1833C>T (p.Ser611=)
c.1749C>T (p.Ser583=)
c.1476C>T (p.Ser492=)
c.2262C>T (p.Ser754=)
c.2253C>T (p.Ser751=)
c.2250C>T (p.Ser750=)
c.1953C>T (p.Ser651=)
c.1464C>T (p.Ser488=)
c.1944C>T (p.Ser648=)
c.1869C>T (p.Ser623=)
c.1830C>T (p.Ser610=)
c.1743C>T (p.Ser581=)
c.1737C>T (p.Ser579=)
c.1566C>T (p.Ser522=)
c.1722C>T (p.Ser574=)
c.1890C>T (p.Ser630=)
 dbSNP gnomAD v2 gnomAD v4
18g.55228282G>CCA504001598TCF4c.1959C>G (p.Ser653=)
c.1839C>G (p.Ser613=)
n.1639C>G
c.1887C>G (p.Ser629=)
c.*1667C>G (n.*1667C>G)
c.1569C>G (p.Ser523=)
c.*1837C>G (n.*1837C>G)
c.1311C>G (p.Ser437=)
n.2014C>G
n.1653C>G
c.1557C>G
c.1986C>G (p.Ser662=)
c.*1570C>G (n.*1570C>G)
c.1947C>G (p.Ser649=)
c.2265C>G (p.Ser755=)
c.1479C>G (p.Ser493=)
c.1557C>G (p.Ser519=)
c.1875C>G (p.Ser625=)
c.1821C>G (p.Ser607=)
c.1746C>G (p.Ser582=)
c.1467C>G (p.Ser489=)
n.5482C>G
c.1734C>G (p.Ser578=)
c.1977C>G (p.Ser659=)
c.1695C>G (p.Ser565=)
c.1779C>G (p.Ser593=)
c.1938C>G (p.Ser646=)
c.1767C>G (p.Ser589=)
c.1872C>G (p.Ser624=)
n.982C>G
c.1299C>G (p.Ser433=)
c.189C>G (p.Ser63=)
c.1956C>G (p.Ser652=)
c.1884C>G (p.Ser628=)
c.1833C>G (p.Ser611=)
c.1749C>G (p.Ser583=)
c.1476C>G (p.Ser492=)
c.2262C>G (p.Ser754=)
c.2253C>G (p.Ser751=)
c.2250C>G (p.Ser750=)
c.1953C>G (p.Ser651=)
c.1464C>G (p.Ser488=)
c.1944C>G (p.Ser648=)
c.1869C>G (p.Ser623=)
c.1830C>G (p.Ser610=)
c.1743C>G (p.Ser581=)
c.1737C>G (p.Ser579=)
c.1566C>G (p.Ser522=)
c.1722C>G (p.Ser574=)
c.1890C>G (p.Ser630=)
18g.55228282G=CA2305004535TCF4c.1959C= (p.Ser653=)
c.1839C= (p.Ser613=)
n.1639C=
c.1887C= (p.Ser629=)
c.*1667C= (n.*1667C=)
c.1569C= (p.Ser523=)
c.*1837C= (n.*1837C=)
c.1311C= (p.Ser437=)
n.2014C=
n.1653C=
c.1557C=
c.1986C= (p.Ser662=)
c.*1570C= (n.*1570C=)
c.1947C= (p.Ser649=)
c.2265C= (p.Ser755=)
c.1479C= (p.Ser493=)
c.1557C= (p.Ser519=)
c.1875C= (p.Ser625=)
c.1821C= (p.Ser607=)
c.1746C= (p.Ser582=)
c.1467C= (p.Ser489=)
n.5482C=
c.1734C= (p.Ser578=)
c.1977C= (p.Ser659=)
c.1695C= (p.Ser565=)
c.1779C= (p.Ser593=)
c.1938C= (p.Ser646=)
c.1767C= (p.Ser589=)
c.1872C= (p.Ser624=)
n.982C=
c.1299C= (p.Ser433=)
c.189C= (p.Ser63=)
c.1956C= (p.Ser652=)
c.1884C= (p.Ser628=)
c.1833C= (p.Ser611=)
c.1749C= (p.Ser583=)
c.1476C= (p.Ser492=)
c.2262C= (p.Ser754=)
c.2253C= (p.Ser751=)
c.2250C= (p.Ser750=)
c.1953C= (p.Ser651=)
c.1464C= (p.Ser488=)
c.1944C= (p.Ser648=)
c.1869C= (p.Ser623=)
c.1830C= (p.Ser610=)
c.1743C= (p.Ser581=)
c.1737C= (p.Ser579=)
c.1566C= (p.Ser522=)
c.1722C= (p.Ser574=)
c.1890C= (p.Ser630=)
18g.55228282G>TCA504001599TCF4c.1959C>A (p.Ser653=)
c.1839C>A (p.Ser613=)
n.1639C>A
c.1887C>A (p.Ser629=)
c.*1667C>A (n.*1667C>A)
c.1569C>A (p.Ser523=)
c.*1837C>A (n.*1837C>A)
c.1311C>A (p.Ser437=)
n.2014C>A
n.1653C>A
c.1557C>A
c.1986C>A (p.Ser662=)
c.*1570C>A (n.*1570C>A)
c.1947C>A (p.Ser649=)
c.2265C>A (p.Ser755=)
c.1479C>A (p.Ser493=)
c.1557C>A (p.Ser519=)
c.1875C>A (p.Ser625=)
c.1821C>A (p.Ser607=)
c.1746C>A (p.Ser582=)
c.1467C>A (p.Ser489=)
n.5482C>A
c.1734C>A (p.Ser578=)
c.1977C>A (p.Ser659=)
c.1695C>A (p.Ser565=)
c.1779C>A (p.Ser593=)
c.1938C>A (p.Ser646=)
c.1767C>A (p.Ser589=)
c.1872C>A (p.Ser624=)
n.982C>A
c.1299C>A (p.Ser433=)
c.189C>A (p.Ser63=)
c.1956C>A (p.Ser652=)
c.1884C>A (p.Ser628=)
c.1833C>A (p.Ser611=)
c.1749C>A (p.Ser583=)
c.1476C>A (p.Ser492=)
c.2262C>A (p.Ser754=)
c.2253C>A (p.Ser751=)
c.2250C>A (p.Ser750=)
c.1953C>A (p.Ser651=)
c.1464C>A (p.Ser488=)
c.1944C>A (p.Ser648=)
c.1869C>A (p.Ser623=)
c.1830C>A (p.Ser610=)
c.1743C>A (p.Ser581=)
c.1737C>A (p.Ser579=)
c.1566C>A (p.Ser522=)
c.1722C>A (p.Ser574=)
c.1890C>A (p.Ser630=)
18g.55228282_55228284delinsGGACA2305004536TCF4c.1957_1959delinsTCC (p.Ser653=)
c.1837_1839delinsTCC (p.Ser613=)
n.1637_1639delinsTCC
c.1885_1887delinsTCC (p.Ser629=)
c.*1665_*1667delinsTCC (n.*1665_*1667delinsTCC)
c.1567_1569delinsTCC (p.Ser523=)
c.*1835_*1837delinsTCC (n.*1835_*1837delinsTCC)
c.1309_1311delinsTCC (p.Ser437=)
n.2012_2014delinsTCC
n.1651_1653delinsTCC
c.1555_1557delinsTCC
c.1984_1986delinsTCC (p.Ser662=)
c.*1568_*1570delinsTCC (n.*1568_*1570delinsTCC)
c.1945_1947delinsTCC (p.Ser649=)
c.2263_2265delinsTCC (p.Ser755=)
c.1477_1479delinsTCC (p.Ser493=)
c.1555_1557delinsTCC (p.Ser519=)
c.1873_1875delinsTCC (p.Ser625=)
c.1819_1821delinsTCC (p.Ser607=)
c.1744_1746delinsTCC (p.Ser582=)
c.1465_1467delinsTCC (p.Ser489=)
n.5480_5482delinsTCC
c.1732_1734delinsTCC (p.Ser578=)
c.1975_1977delinsTCC (p.Ser659=)
c.1693_1695delinsTCC (p.Ser565=)
c.1777_1779delinsTCC (p.Ser593=)
c.1936_1938delinsTCC (p.Ser646=)
c.1765_1767delinsTCC (p.Ser589=)
c.1870_1872delinsTCC (p.Ser624=)
n.980_982delinsTCC
c.1297_1299delinsTCC (p.Ser433=)
c.187_189delinsTCC (p.Ser63=)
c.1954_1956delinsTCC (p.Ser652=)
c.1882_1884delinsTCC (p.Ser628=)
c.1831_1833delinsTCC (p.Ser611=)
c.1747_1749delinsTCC (p.Ser583=)
c.1474_1476delinsTCC (p.Ser492=)
c.2260_2262delinsTCC (p.Ser754=)
c.2251_2253delinsTCC (p.Ser751=)
c.2248_2250delinsTCC (p.Ser750=)
c.1951_1953delinsTCC (p.Ser651=)
c.1462_1464delinsTCC (p.Ser488=)
c.1942_1944delinsTCC (p.Ser648=)
c.1867_1869delinsTCC (p.Ser623=)
c.1828_1830delinsTCC (p.Ser610=)
c.1741_1743delinsTCC (p.Ser581=)
c.1735_1737delinsTCC (p.Ser579=)
c.1564_1566delinsTCC (p.Ser522=)
c.1720_1722delinsTCC (p.Ser574=)
c.1888_1890delinsTCC (p.Ser630=)
18g.55228283G>ACA402527650TCF4c.1958C>T (p.Ser653Phe)
c.1838C>T (p.Ser613Phe)
n.1638C>T
c.1886C>T (p.Ser629Phe)
c.*1666C>T (n.*1666C>T)
c.1568C>T (p.Ser523Phe)
c.*1836C>T (n.*1836C>T)
c.1310C>T (p.Ser437Phe)
n.2013C>T
n.1652C>T
c.1556C>T
c.1985C>T (p.Ser662Phe)
c.*1569C>T (n.*1569C>T)
c.1946C>T (p.Ser649Phe)
c.2264C>T (p.Ser755Phe)
c.1478C>T (p.Ser493Phe)
c.1556C>T (p.Ser519Phe)
c.1874C>T (p.Ser625Phe)
c.1820C>T (p.Ser607Phe)
c.1745C>T (p.Ser582Phe)
c.1466C>T (p.Ser489Phe)
n.5481C>T
c.1733C>T (p.Ser578Phe)
c.1976C>T (p.Ser659Phe)
c.1694C>T (p.Ser565Phe)
c.1778C>T (p.Ser593Phe)
c.1937C>T (p.Ser646Phe)
c.1766C>T (p.Ser589Phe)
c.1871C>T (p.Ser624Phe)
n.981C>T
c.1298C>T (p.Ser433Phe)
c.188C>T (p.Ser63Phe)
c.1955C>T (p.Ser652Phe)
c.1883C>T (p.Ser628Phe)
c.1832C>T (p.Ser611Phe)
c.1748C>T (p.Ser583Phe)
c.1475C>T (p.Ser492Phe)
c.2261C>T (p.Ser754Phe)
c.2252C>T (p.Ser751Phe)
c.2249C>T (p.Ser750Phe)
c.1952C>T (p.Ser651Phe)
c.1463C>T (p.Ser488Phe)
c.1943C>T (p.Ser648Phe)
c.1868C>T (p.Ser623Phe)
c.1829C>T (p.Ser610Phe)
c.1742C>T (p.Ser581Phe)
c.1736C>T (p.Ser579Phe)
c.1565C>T (p.Ser522Phe)
c.1721C>T (p.Ser574Phe)
c.1889C>T (p.Ser630Phe)
18g.55228283G>CCA402527651TCF4c.1958C>G (p.Ser653Cys)
c.1838C>G (p.Ser613Cys)
n.1638C>G
c.1886C>G (p.Ser629Cys)
c.*1666C>G (n.*1666C>G)
c.1568C>G (p.Ser523Cys)
c.*1836C>G (n.*1836C>G)
c.1310C>G (p.Ser437Cys)
n.2013C>G
n.1652C>G
c.1556C>G
c.1985C>G (p.Ser662Cys)
c.*1569C>G (n.*1569C>G)
c.1946C>G (p.Ser649Cys)
c.2264C>G (p.Ser755Cys)
c.1478C>G (p.Ser493Cys)
c.1556C>G (p.Ser519Cys)
c.1874C>G (p.Ser625Cys)
c.1820C>G (p.Ser607Cys)
c.1745C>G (p.Ser582Cys)
c.1466C>G (p.Ser489Cys)
n.5481C>G
c.1733C>G (p.Ser578Cys)
c.1976C>G (p.Ser659Cys)
c.1694C>G (p.Ser565Cys)
c.1778C>G (p.Ser593Cys)
c.1937C>G (p.Ser646Cys)
c.1766C>G (p.Ser589Cys)
c.1871C>G (p.Ser624Cys)
n.981C>G
c.1298C>G (p.Ser433Cys)
c.188C>G (p.Ser63Cys)
c.1955C>G (p.Ser652Cys)
c.1883C>G (p.Ser628Cys)
c.1832C>G (p.Ser611Cys)
c.1748C>G (p.Ser583Cys)
c.1475C>G (p.Ser492Cys)
c.2261C>G (p.Ser754Cys)
c.2252C>G (p.Ser751Cys)
c.2249C>G (p.Ser750Cys)
c.1952C>G (p.Ser651Cys)
c.1463C>G (p.Ser488Cys)
c.1943C>G (p.Ser648Cys)
c.1868C>G (p.Ser623Cys)
c.1829C>G (p.Ser610Cys)
c.1742C>G (p.Ser581Cys)
c.1736C>G (p.Ser579Cys)
c.1565C>G (p.Ser522Cys)
c.1721C>G (p.Ser574Cys)
c.1889C>G (p.Ser630Cys)
 dbSNP gnomAD v2 gnomAD v4
18g.55228283G=CA2305004537TCF4c.1958C= (p.Ser653=)
c.1838C= (p.Ser613=)
n.1638C=
c.1886C= (p.Ser629=)
c.*1666C= (n.*1666C=)
c.1568C= (p.Ser523=)
c.*1836C= (n.*1836C=)
c.1310C= (p.Ser437=)
n.2013C=
n.1652C=
c.1556C=
c.1985C= (p.Ser662=)
c.*1569C= (n.*1569C=)
c.1946C= (p.Ser649=)
c.2264C= (p.Ser755=)
c.1478C= (p.Ser493=)
c.1556C= (p.Ser519=)
c.1874C= (p.Ser625=)
c.1820C= (p.Ser607=)
c.1745C= (p.Ser582=)
c.1466C= (p.Ser489=)
n.5481C=
c.1733C= (p.Ser578=)
c.1976C= (p.Ser659=)
c.1694C= (p.Ser565=)
c.1778C= (p.Ser593=)
c.1937C= (p.Ser646=)
c.1766C= (p.Ser589=)
c.1871C= (p.Ser624=)
n.981C=
c.1298C= (p.Ser433=)
c.188C= (p.Ser63=)
c.1955C= (p.Ser652=)
c.1883C= (p.Ser628=)
c.1832C= (p.Ser611=)
c.1748C= (p.Ser583=)
c.1475C= (p.Ser492=)
c.2261C= (p.Ser754=)
c.2252C= (p.Ser751=)
c.2249C= (p.Ser750=)
c.1952C= (p.Ser651=)
c.1463C= (p.Ser488=)
c.1943C= (p.Ser648=)
c.1868C= (p.Ser623=)
c.1829C= (p.Ser610=)
c.1742C= (p.Ser581=)
c.1736C= (p.Ser579=)
c.1565C= (p.Ser522=)
c.1721C= (p.Ser574=)
c.1889C= (p.Ser630=)
18g.55228283G>TCA402527652TCF4c.1958C>A (p.Ser653Tyr)
c.1838C>A (p.Ser613Tyr)
n.1638C>A
c.1886C>A (p.Ser629Tyr)
c.*1666C>A (n.*1666C>A)
c.1568C>A (p.Ser523Tyr)
c.*1836C>A (n.*1836C>A)
c.1310C>A (p.Ser437Tyr)
n.2013C>A
n.1652C>A
c.1556C>A
c.1985C>A (p.Ser662Tyr)
c.*1569C>A (n.*1569C>A)
c.1946C>A (p.Ser649Tyr)
c.2264C>A (p.Ser755Tyr)
c.1478C>A (p.Ser493Tyr)
c.1556C>A (p.Ser519Tyr)
c.1874C>A (p.Ser625Tyr)
c.1820C>A (p.Ser607Tyr)
c.1745C>A (p.Ser582Tyr)
c.1466C>A (p.Ser489Tyr)
n.5481C>A
c.1733C>A (p.Ser578Tyr)
c.1976C>A (p.Ser659Tyr)
c.1694C>A (p.Ser565Tyr)
c.1778C>A (p.Ser593Tyr)
c.1937C>A (p.Ser646Tyr)
c.1766C>A (p.Ser589Tyr)
c.1871C>A (p.Ser624Tyr)
n.981C>A
c.1298C>A (p.Ser433Tyr)
c.188C>A (p.Ser63Tyr)
c.1955C>A (p.Ser652Tyr)
c.1883C>A (p.Ser628Tyr)
c.1832C>A (p.Ser611Tyr)
c.1748C>A (p.Ser583Tyr)
c.1475C>A (p.Ser492Tyr)
c.2261C>A (p.Ser754Tyr)
c.2252C>A (p.Ser751Tyr)
c.2249C>A (p.Ser750Tyr)
c.1952C>A (p.Ser651Tyr)
c.1463C>A (p.Ser488Tyr)
c.1943C>A (p.Ser648Tyr)
c.1868C>A (p.Ser623Tyr)
c.1829C>A (p.Ser610Tyr)
c.1742C>A (p.Ser581Tyr)
c.1736C>A (p.Ser579Tyr)
c.1565C>A (p.Ser522Tyr)
c.1721C>A (p.Ser574Tyr)
c.1889C>A (p.Ser630Tyr)
18g.55228288_55228289delCA645372637TCF4c.1957_1958del (p.Ser653LeufsTer?)
c.1837_1838del (p.Ser613LeufsTer?)
n.1637_1638del
c.1885_1886del (p.Ser629LeufsTer?)
c.*1665_*1666del (n.*1665_*1666del)
c.1567_1568del (p.Ser523LeufsTer?)
c.*1835_*1836del (n.*1835_*1836del)
c.1309_1310del (p.Ser437LeufsTer?)
n.2012_2013del
n.1651_1652del
c.1555_1556del
c.1984_1985del (p.Ser662LeufsTer?)
c.*1568_*1569del (n.*1568_*1569del)
c.1945_1946del (p.Ser649LeufsTer?)
c.2263_2264del (p.Ser755LeufsTer?)
c.1477_1478del (p.Ser493LeufsTer?)
c.1555_1556del (p.Ser519LeufsTer?)
c.1873_1874del (p.Ser625LeufsTer?)
c.1819_1820del (p.Ser607LeufsTer?)
c.1744_1745del (p.Ser582LeufsTer?)
c.1465_1466del (p.Ser489LeufsTer?)
n.5480_5481del
c.1732_1733del (p.Ser578LeufsTer?)
c.1975_1976del (p.Ser659LeufsTer?)
c.1693_1694del (p.Ser565LeufsTer?)
c.1777_1778del (p.Ser593LeufsTer?)
c.1936_1937del (p.Ser646LeufsTer?)
c.1765_1766del (p.Ser589LeufsTer?)
c.1870_1871del (p.Ser624LeufsTer?)
n.980_981del
c.1297_1298del (p.Ser433LeufsTer?)
c.187_188del (p.Ser63LeufsTer?)
c.1954_1955del (p.Ser652LeufsTer?)
c.1882_1883del (p.Ser628LeufsTer?)
c.1831_1832del (p.Ser611LeufsTer?)
c.1747_1748del (p.Ser583LeufsTer?)
c.1474_1475del (p.Ser492LeufsTer?)
c.2260_2261del (p.Ser754LeufsTer?)
c.2251_2252del (p.Ser751LeufsTer?)
c.2248_2249del (p.Ser750LeufsTer?)
c.1951_1952del (p.Ser651LeufsTer?)
c.1462_1463del (p.Ser488LeufsTer?)
c.1942_1943del (p.Ser648LeufsTer?)
c.1867_1868del (p.Ser623LeufsTer?)
c.1828_1829del (p.Ser610LeufsTer?)
c.1741_1742del (p.Ser581LeufsTer?)
c.1735_1736del (p.Ser579LeufsTer?)
c.1564_1565del (p.Ser522LeufsTer?)
c.1720_1721del (p.Ser574LeufsTer?)
c.1888_1889del (p.Ser630LeufsTer?)
 ClinVar dbSNP
18g.55228284A>CCA402527653TCF4c.1957T>G (p.Ser653Ala)
c.1837T>G (p.Ser613Ala)
n.1637T>G
c.1885T>G (p.Ser629Ala)
c.*1665T>G (n.*1665T>G)
c.1567T>G (p.Ser523Ala)
c.*1835T>G (n.*1835T>G)
c.1309T>G (p.Ser437Ala)
n.2012T>G
n.1651T>G
c.1555T>G
c.1984T>G (p.Ser662Ala)
c.*1568T>G (n.*1568T>G)
c.1945T>G (p.Ser649Ala)
c.2263T>G (p.Ser755Ala)
c.1477T>G (p.Ser493Ala)
c.1555T>G (p.Ser519Ala)
c.1873T>G (p.Ser625Ala)
c.1819T>G (p.Ser607Ala)
c.1744T>G (p.Ser582Ala)
c.1465T>G (p.Ser489Ala)
n.5480T>G
c.1732T>G (p.Ser578Ala)
c.1975T>G (p.Ser659Ala)
c.1693T>G (p.Ser565Ala)
c.1777T>G (p.Ser593Ala)
c.1936T>G (p.Ser646Ala)
c.1765T>G (p.Ser589Ala)
c.1870T>G (p.Ser624Ala)
n.980T>G
c.1297T>G (p.Ser433Ala)
c.187T>G (p.Ser63Ala)
c.1954T>G (p.Ser652Ala)
c.1882T>G (p.Ser628Ala)
c.1831T>G (p.Ser611Ala)
c.1747T>G (p.Ser583Ala)
c.1474T>G (p.Ser492Ala)
c.2260T>G (p.Ser754Ala)
c.2251T>G (p.Ser751Ala)
c.2248T>G (p.Ser750Ala)
c.1951T>G (p.Ser651Ala)
c.1462T>G (p.Ser488Ala)
c.1942T>G (p.Ser648Ala)
c.1867T>G (p.Ser623Ala)
c.1828T>G (p.Ser610Ala)
c.1741T>G (p.Ser581Ala)
c.1735T>G (p.Ser579Ala)
c.1564T>G (p.Ser522Ala)
c.1720T>G (p.Ser574Ala)
c.1888T>G (p.Ser630Ala)
18g.55228284A>GCA402527654TCF4c.1957T>C (p.Ser653Pro)
c.1837T>C (p.Ser613Pro)
n.1637T>C
c.1885T>C (p.Ser629Pro)
c.*1665T>C (n.*1665T>C)
c.1567T>C (p.Ser523Pro)
c.*1835T>C (n.*1835T>C)
c.1309T>C (p.Ser437Pro)
n.2012T>C
n.1651T>C
c.1555T>C
c.1984T>C (p.Ser662Pro)
c.*1568T>C (n.*1568T>C)
c.1945T>C (p.Ser649Pro)
c.2263T>C (p.Ser755Pro)
c.1477T>C (p.Ser493Pro)
c.1555T>C (p.Ser519Pro)
c.1873T>C (p.Ser625Pro)
c.1819T>C (p.Ser607Pro)
c.1744T>C (p.Ser582Pro)
c.1465T>C (p.Ser489Pro)
n.5480T>C
c.1732T>C (p.Ser578Pro)
c.1975T>C (p.Ser659Pro)
c.1693T>C (p.Ser565Pro)
c.1777T>C (p.Ser593Pro)
c.1936T>C (p.Ser646Pro)
c.1765T>C (p.Ser589Pro)
c.1870T>C (p.Ser624Pro)
n.980T>C
c.1297T>C (p.Ser433Pro)
c.187T>C (p.Ser63Pro)
c.1954T>C (p.Ser652Pro)
c.1882T>C (p.Ser628Pro)
c.1831T>C (p.Ser611Pro)
c.1747T>C (p.Ser583Pro)
c.1474T>C (p.Ser492Pro)
c.2260T>C (p.Ser754Pro)
c.2251T>C (p.Ser751Pro)
c.2248T>C (p.Ser750Pro)
c.1951T>C (p.Ser651Pro)
c.1462T>C (p.Ser488Pro)
c.1942T>C (p.Ser648Pro)
c.1867T>C (p.Ser623Pro)
c.1828T>C (p.Ser610Pro)
c.1741T>C (p.Ser581Pro)
c.1735T>C (p.Ser579Pro)
c.1564T>C (p.Ser522Pro)
c.1720T>C (p.Ser574Pro)
c.1888T>C (p.Ser630Pro)
 dbSNP
18g.55228284A>TCA402527655TCF4c.1957T>A (p.Ser653Thr)
c.1837T>A (p.Ser613Thr)
n.1637T>A
c.1885T>A (p.Ser629Thr)
c.*1665T>A (n.*1665T>A)
c.1567T>A (p.Ser523Thr)
c.*1835T>A (n.*1835T>A)
c.1309T>A (p.Ser437Thr)
n.2012T>A
n.1651T>A
c.1555T>A
c.1984T>A (p.Ser662Thr)
c.*1568T>A (n.*1568T>A)
c.1945T>A (p.Ser649Thr)
c.2263T>A (p.Ser755Thr)
c.1477T>A (p.Ser493Thr)
c.1555T>A (p.Ser519Thr)
c.1873T>A (p.Ser625Thr)
c.1819T>A (p.Ser607Thr)
c.1744T>A (p.Ser582Thr)
c.1465T>A (p.Ser489Thr)
n.5480T>A
c.1732T>A (p.Ser578Thr)
c.1975T>A (p.Ser659Thr)
c.1693T>A (p.Ser565Thr)
c.1777T>A (p.Ser593Thr)
c.1936T>A (p.Ser646Thr)
c.1765T>A (p.Ser589Thr)
c.1870T>A (p.Ser624Thr)
n.980T>A
c.1297T>A (p.Ser433Thr)
c.187T>A (p.Ser63Thr)
c.1954T>A (p.Ser652Thr)
c.1882T>A (p.Ser628Thr)
c.1831T>A (p.Ser611Thr)
c.1747T>A (p.Ser583Thr)
c.1474T>A (p.Ser492Thr)
c.2260T>A (p.Ser754Thr)
c.2251T>A (p.Ser751Thr)
c.2248T>A (p.Ser750Thr)
c.1951T>A (p.Ser651Thr)
c.1462T>A (p.Ser488Thr)
c.1942T>A (p.Ser648Thr)
c.1867T>A (p.Ser623Thr)
c.1828T>A (p.Ser610Thr)
c.1741T>A (p.Ser581Thr)
c.1735T>A (p.Ser579Thr)
c.1564T>A (p.Ser522Thr)
c.1720T>A (p.Ser574Thr)
c.1888T>A (p.Ser630Thr)
18g.55228285G>ACA504001614TCF4c.1956C>T (p.Leu652=)
c.1836C>T (p.Leu612=)
n.1636C>T
c.1884C>T (p.Leu628=)
c.*1664C>T (n.*1664C>T)
c.1566C>T (p.Leu522=)
c.*1834C>T (n.*1834C>T)
c.1308C>T (p.Leu436=)
n.2011C>T
n.1650C>T
c.1554C>T
c.1983C>T (p.Leu661=)
c.*1567C>T (n.*1567C>T)
c.1944C>T (p.Leu648=)
c.2262C>T (p.Leu754=)
c.1476C>T (p.Leu492=)
c.1554C>T (p.Leu518=)
c.1872C>T (p.Leu624=)
c.1818C>T (p.Leu606=)
c.1743C>T (p.Leu581=)
c.1464C>T (p.Leu488=)
n.5479C>T
c.1731C>T (p.Leu577=)
c.1974C>T (p.Leu658=)
c.1692C>T (p.Leu564=)
c.1776C>T (p.Leu592=)
c.1935C>T (p.Leu645=)
c.1764C>T (p.Leu588=)
c.1869C>T (p.Leu623=)
n.979C>T
c.1296C>T (p.Leu432=)
c.186C>T (p.Leu62=)
c.1953C>T (p.Leu651=)
c.1881C>T (p.Leu627=)
c.1830C>T (p.Leu610=)
c.1746C>T (p.Leu582=)
c.1473C>T (p.Leu491=)
c.2259C>T (p.Leu753=)
c.2250C>T (p.Leu750=)
c.2247C>T (p.Leu749=)
c.1950C>T (p.Leu650=)
c.1461C>T (p.Leu487=)
c.1941C>T (p.Leu647=)
c.1866C>T (p.Leu622=)
c.1827C>T (p.Leu609=)
c.1740C>T (p.Leu580=)
c.1734C>T (p.Leu578=)
c.1563C>T (p.Leu521=)
c.1719C>T (p.Leu573=)
c.1887C>T (p.Leu629=)
18g.55228285G>CCA504001611TCF4c.1956C>G (p.Leu652=)
c.1836C>G (p.Leu612=)
n.1636C>G
c.1884C>G (p.Leu628=)
c.*1664C>G (n.*1664C>G)
c.1566C>G (p.Leu522=)
c.*1834C>G (n.*1834C>G)
c.1308C>G (p.Leu436=)
n.2011C>G
n.1650C>G
c.1554C>G
c.1983C>G (p.Leu661=)
c.*1567C>G (n.*1567C>G)
c.1944C>G (p.Leu648=)
c.2262C>G (p.Leu754=)
c.1476C>G (p.Leu492=)
c.1554C>G (p.Leu518=)
c.1872C>G (p.Leu624=)
c.1818C>G (p.Leu606=)
c.1743C>G (p.Leu581=)
c.1464C>G (p.Leu488=)
n.5479C>G
c.1731C>G (p.Leu577=)
c.1974C>G (p.Leu658=)
c.1692C>G (p.Leu564=)
c.1776C>G (p.Leu592=)
c.1935C>G (p.Leu645=)
c.1764C>G (p.Leu588=)
c.1869C>G (p.Leu623=)
n.979C>G
c.1296C>G (p.Leu432=)
c.186C>G (p.Leu62=)
c.1953C>G (p.Leu651=)
c.1881C>G (p.Leu627=)
c.1830C>G (p.Leu610=)
c.1746C>G (p.Leu582=)
c.1473C>G (p.Leu491=)
c.2259C>G (p.Leu753=)
c.2250C>G (p.Leu750=)
c.2247C>G (p.Leu749=)
c.1950C>G (p.Leu650=)
c.1461C>G (p.Leu487=)
c.1941C>G (p.Leu647=)
c.1866C>G (p.Leu622=)
c.1827C>G (p.Leu609=)
c.1740C>G (p.Leu580=)
c.1734C>G (p.Leu578=)
c.1563C>G (p.Leu521=)
c.1719C>G (p.Leu573=)
c.1887C>G (p.Leu629=)
18g.55228285G>TCA504001608TCF4c.1956C>A (p.Leu652=)
c.1836C>A (p.Leu612=)
n.1636C>A
c.1884C>A (p.Leu628=)
c.*1664C>A (n.*1664C>A)
c.1566C>A (p.Leu522=)
c.*1834C>A (n.*1834C>A)
c.1308C>A (p.Leu436=)
n.2011C>A
n.1650C>A
c.1554C>A
c.1983C>A (p.Leu661=)
c.*1567C>A (n.*1567C>A)
c.1944C>A (p.Leu648=)
c.2262C>A (p.Leu754=)
c.1476C>A (p.Leu492=)
c.1554C>A (p.Leu518=)
c.1872C>A (p.Leu624=)
c.1818C>A (p.Leu606=)
c.1743C>A (p.Leu581=)
c.1464C>A (p.Leu488=)
n.5479C>A
c.1731C>A (p.Leu577=)
c.1974C>A (p.Leu658=)
c.1692C>A (p.Leu564=)
c.1776C>A (p.Leu592=)
c.1935C>A (p.Leu645=)
c.1764C>A (p.Leu588=)
c.1869C>A (p.Leu623=)
n.979C>A
c.1296C>A (p.Leu432=)
c.186C>A (p.Leu62=)
c.1953C>A (p.Leu651=)
c.1881C>A (p.Leu627=)
c.1830C>A (p.Leu610=)
c.1746C>A (p.Leu582=)
c.1473C>A (p.Leu491=)
c.2259C>A (p.Leu753=)
c.2250C>A (p.Leu750=)
c.2247C>A (p.Leu749=)
c.1950C>A (p.Leu650=)
c.1461C>A (p.Leu487=)
c.1941C>A (p.Leu647=)
c.1866C>A (p.Leu622=)
c.1827C>A (p.Leu609=)
c.1740C>A (p.Leu580=)
c.1734C>A (p.Leu578=)
c.1563C>A (p.Leu521=)
c.1719C>A (p.Leu573=)
c.1887C>A (p.Leu629=)
18g.55228286A>CCA402527656TCF4c.1955T>G (p.Leu652Arg)
c.1835T>G (p.Leu612Arg)
n.1635T>G
c.1883T>G (p.Leu628Arg)
c.*1663T>G (n.*1663T>G)
c.1565T>G (p.Leu522Arg)
c.*1833T>G (n.*1833T>G)
c.1307T>G (p.Leu436Arg)
n.2010T>G
n.1649T>G
c.1553T>G
c.1982T>G (p.Leu661Arg)
c.*1566T>G (n.*1566T>G)
c.1943T>G (p.Leu648Arg)
c.2261T>G (p.Leu754Arg)
c.1475T>G (p.Leu492Arg)
c.1553T>G (p.Leu518Arg)
c.1871T>G (p.Leu624Arg)
c.1817T>G (p.Leu606Arg)
c.1742T>G (p.Leu581Arg)
c.1463T>G (p.Leu488Arg)
n.5478T>G
c.1730T>G (p.Leu577Arg)
c.1973T>G (p.Leu658Arg)
c.1691T>G (p.Leu564Arg)
c.1775T>G (p.Leu592Arg)
c.1934T>G (p.Leu645Arg)
c.1763T>G (p.Leu588Arg)
c.1868T>G (p.Leu623Arg)
n.978T>G
c.1295T>G (p.Leu432Arg)
c.185T>G (p.Leu62Arg)
c.1952T>G (p.Leu651Arg)
c.1880T>G (p.Leu627Arg)
c.1829T>G (p.Leu610Arg)
c.1745T>G (p.Leu582Arg)
c.1472T>G (p.Leu491Arg)
c.2258T>G (p.Leu753Arg)
c.2249T>G (p.Leu750Arg)
c.2246T>G (p.Leu749Arg)
c.1949T>G (p.Leu650Arg)
c.1460T>G (p.Leu487Arg)
c.1940T>G (p.Leu647Arg)
c.1865T>G (p.Leu622Arg)
c.1826T>G (p.Leu609Arg)
c.1739T>G (p.Leu580Arg)
c.1733T>G (p.Leu578Arg)
c.1562T>G (p.Leu521Arg)
c.1718T>G (p.Leu573Arg)
c.1886T>G (p.Leu629Arg)
18g.55228286A>GCA402527657TCF4c.1955T>C (p.Leu652Pro)
c.1835T>C (p.Leu612Pro)
n.1635T>C
c.1883T>C (p.Leu628Pro)
c.*1663T>C (n.*1663T>C)
c.1565T>C (p.Leu522Pro)
c.*1833T>C (n.*1833T>C)
c.1307T>C (p.Leu436Pro)
n.2010T>C
n.1649T>C
c.1553T>C
c.1982T>C (p.Leu661Pro)
c.*1566T>C (n.*1566T>C)
c.1943T>C (p.Leu648Pro)
c.2261T>C (p.Leu754Pro)
c.1475T>C (p.Leu492Pro)
c.1553T>C (p.Leu518Pro)
c.1871T>C (p.Leu624Pro)
c.1817T>C (p.Leu606Pro)
c.1742T>C (p.Leu581Pro)
c.1463T>C (p.Leu488Pro)
n.5478T>C
c.1730T>C (p.Leu577Pro)
c.1973T>C (p.Leu658Pro)
c.1691T>C (p.Leu564Pro)
c.1775T>C (p.Leu592Pro)
c.1934T>C (p.Leu645Pro)
c.1763T>C (p.Leu588Pro)
c.1868T>C (p.Leu623Pro)
n.978T>C
c.1295T>C (p.Leu432Pro)
c.185T>C (p.Leu62Pro)
c.1952T>C (p.Leu651Pro)
c.1880T>C (p.Leu627Pro)
c.1829T>C (p.Leu610Pro)
c.1745T>C (p.Leu582Pro)
c.1472T>C (p.Leu491Pro)
c.2258T>C (p.Leu753Pro)
c.2249T>C (p.Leu750Pro)
c.2246T>C (p.Leu749Pro)
c.1949T>C (p.Leu650Pro)
c.1460T>C (p.Leu487Pro)
c.1940T>C (p.Leu647Pro)
c.1865T>C (p.Leu622Pro)
c.1826T>C (p.Leu609Pro)
c.1739T>C (p.Leu580Pro)
c.1733T>C (p.Leu578Pro)
c.1562T>C (p.Leu521Pro)
c.1718T>C (p.Leu573Pro)
c.1886T>C (p.Leu629Pro)
18g.55228286A>TCA402527658TCF4c.1955T>A (p.Leu652His)
c.1835T>A (p.Leu612His)
n.1635T>A
c.1883T>A (p.Leu628His)
c.*1663T>A (n.*1663T>A)
c.1565T>A (p.Leu522His)
c.*1833T>A (n.*1833T>A)
c.1307T>A (p.Leu436His)
n.2010T>A
n.1649T>A
c.1553T>A
c.1982T>A (p.Leu661His)
c.*1566T>A (n.*1566T>A)
c.1943T>A (p.Leu648His)
c.2261T>A (p.Leu754His)
c.1475T>A (p.Leu492His)
c.1553T>A (p.Leu518His)
c.1871T>A (p.Leu624His)
c.1817T>A (p.Leu606His)
c.1742T>A (p.Leu581His)
c.1463T>A (p.Leu488His)
n.5478T>A
c.1730T>A (p.Leu577His)
c.1973T>A (p.Leu658His)
c.1691T>A (p.Leu564His)
c.1775T>A (p.Leu592His)
c.1934T>A (p.Leu645His)
c.1763T>A (p.Leu588His)
c.1868T>A (p.Leu623His)
n.978T>A
c.1295T>A (p.Leu432His)
c.185T>A (p.Leu62His)
c.1952T>A (p.Leu651His)
c.1880T>A (p.Leu627His)
c.1829T>A (p.Leu610His)
c.1745T>A (p.Leu582His)
c.1472T>A (p.Leu491His)
c.2258T>A (p.Leu753His)
c.2249T>A (p.Leu750His)
c.2246T>A (p.Leu749His)
c.1949T>A (p.Leu650His)
c.1460T>A (p.Leu487His)
c.1940T>A (p.Leu647His)
c.1865T>A (p.Leu622His)
c.1826T>A (p.Leu609His)
c.1739T>A (p.Leu580His)
c.1733T>A (p.Leu578His)
c.1562T>A (p.Leu521His)
c.1718T>A (p.Leu573His)
c.1886T>A (p.Leu629His)
18g.55228287G>ACA402527659TCF4c.1954C>T (p.Leu652Phe)
c.1834C>T (p.Leu612Phe)
n.1634C>T
c.1882C>T (p.Leu628Phe)
c.*1662C>T (n.*1662C>T)
c.1564C>T (p.Leu522Phe)
c.*1832C>T (n.*1832C>T)
c.1306C>T (p.Leu436Phe)
n.2009C>T
n.1648C>T
c.1552C>T
c.1981C>T (p.Leu661Phe)
c.*1565C>T (n.*1565C>T)
c.1942C>T (p.Leu648Phe)
c.2260C>T (p.Leu754Phe)
c.1474C>T (p.Leu492Phe)
c.1552C>T (p.Leu518Phe)
c.1870C>T (p.Leu624Phe)
c.1816C>T (p.Leu606Phe)
c.1741C>T (p.Leu581Phe)
c.1462C>T (p.Leu488Phe)
n.5477C>T
c.1729C>T (p.Leu577Phe)
c.1972C>T (p.Leu658Phe)
c.1690C>T (p.Leu564Phe)
c.1774C>T (p.Leu592Phe)
c.1933C>T (p.Leu645Phe)
c.1762C>T (p.Leu588Phe)
c.1867C>T (p.Leu623Phe)
n.977C>T
c.1294C>T (p.Leu432Phe)
c.184C>T (p.Leu62Phe)
c.1951C>T (p.Leu651Phe)
c.1879C>T (p.Leu627Phe)
c.1828C>T (p.Leu610Phe)
c.1744C>T (p.Leu582Phe)
c.1471C>T (p.Leu491Phe)
c.2257C>T (p.Leu753Phe)
c.2248C>T (p.Leu750Phe)
c.2245C>T (p.Leu749Phe)
c.1948C>T (p.Leu650Phe)
c.1459C>T (p.Leu487Phe)
c.1939C>T (p.Leu647Phe)
c.1864C>T (p.Leu622Phe)
c.1825C>T (p.Leu609Phe)
c.1738C>T (p.Leu580Phe)
c.1732C>T (p.Leu578Phe)
c.1561C>T (p.Leu521Phe)
c.1717C>T (p.Leu573Phe)
c.1885C>T (p.Leu629Phe)
 COSMIC COSMIC COSMIC
18g.55228287G>CCA402527660TCF4c.1954C>G (p.Leu652Val)
c.1834C>G (p.Leu612Val)
n.1634C>G
c.1882C>G (p.Leu628Val)
c.*1662C>G (n.*1662C>G)
c.1564C>G (p.Leu522Val)
c.*1832C>G (n.*1832C>G)
c.1306C>G (p.Leu436Val)
n.2009C>G
n.1648C>G
c.1552C>G
c.1981C>G (p.Leu661Val)
c.*1565C>G (n.*1565C>G)
c.1942C>G (p.Leu648Val)
c.2260C>G (p.Leu754Val)
c.1474C>G (p.Leu492Val)
c.1552C>G (p.Leu518Val)
c.1870C>G (p.Leu624Val)
c.1816C>G (p.Leu606Val)
c.1741C>G (p.Leu581Val)
c.1462C>G (p.Leu488Val)
n.5477C>G
c.1729C>G (p.Leu577Val)
c.1972C>G (p.Leu658Val)
c.1690C>G (p.Leu564Val)
c.1774C>G (p.Leu592Val)
c.1933C>G (p.Leu645Val)
c.1762C>G (p.Leu588Val)
c.1867C>G (p.Leu623Val)
n.977C>G
c.1294C>G (p.Leu432Val)
c.184C>G (p.Leu62Val)
c.1951C>G (p.Leu651Val)
c.1879C>G (p.Leu627Val)
c.1828C>G (p.Leu610Val)
c.1744C>G (p.Leu582Val)
c.1471C>G (p.Leu491Val)
c.2257C>G (p.Leu753Val)
c.2248C>G (p.Leu750Val)
c.2245C>G (p.Leu749Val)
c.1948C>G (p.Leu650Val)
c.1459C>G (p.Leu487Val)
c.1939C>G (p.Leu647Val)
c.1864C>G (p.Leu622Val)
c.1825C>G (p.Leu609Val)
c.1738C>G (p.Leu580Val)
c.1732C>G (p.Leu578Val)
c.1561C>G (p.Leu521Val)
c.1717C>G (p.Leu573Val)
c.1885C>G (p.Leu629Val)
18g.55228287G>TCA402527661TCF4c.1954C>A (p.Leu652Ile)
c.1834C>A (p.Leu612Ile)
n.1634C>A
c.1882C>A (p.Leu628Ile)
c.*1662C>A (n.*1662C>A)
c.1564C>A (p.Leu522Ile)
c.*1832C>A (n.*1832C>A)
c.1306C>A (p.Leu436Ile)
n.2009C>A
n.1648C>A
c.1552C>A
c.1981C>A (p.Leu661Ile)
c.*1565C>A (n.*1565C>A)
c.1942C>A (p.Leu648Ile)
c.2260C>A (p.Leu754Ile)
c.1474C>A (p.Leu492Ile)
c.1552C>A (p.Leu518Ile)
c.1870C>A (p.Leu624Ile)
c.1816C>A (p.Leu606Ile)
c.1741C>A (p.Leu581Ile)
c.1462C>A (p.Leu488Ile)
n.5477C>A
c.1729C>A (p.Leu577Ile)
c.1972C>A (p.Leu658Ile)
c.1690C>A (p.Leu564Ile)
c.1774C>A (p.Leu592Ile)
c.1933C>A (p.Leu645Ile)
c.1762C>A (p.Leu588Ile)
c.1867C>A (p.Leu623Ile)
n.977C>A
c.1294C>A (p.Leu432Ile)
c.184C>A (p.Leu62Ile)
c.1951C>A (p.Leu651Ile)
c.1879C>A (p.Leu627Ile)
c.1828C>A (p.Leu610Ile)
c.1744C>A (p.Leu582Ile)
c.1471C>A (p.Leu491Ile)
c.2257C>A (p.Leu753Ile)
c.2248C>A (p.Leu750Ile)
c.2245C>A (p.Leu749Ile)
c.1948C>A (p.Leu650Ile)
c.1459C>A (p.Leu487Ile)
c.1939C>A (p.Leu647Ile)
c.1864C>A (p.Leu622Ile)
c.1825C>A (p.Leu609Ile)
c.1738C>A (p.Leu580Ile)
c.1732C>A (p.Leu578Ile)
c.1561C>A (p.Leu521Ile)
c.1717C>A (p.Leu573Ile)
c.1885C>A (p.Leu629Ile)
18g.55228288A>CCA504001626TCF4c.1953T>G (p.Pro651=)
c.1833T>G (p.Pro611=)
n.1633T>G
c.1881T>G (p.Pro627=)
c.*1661T>G (n.*1661T>G)
c.1563T>G (p.Pro521=)
c.*1831T>G (n.*1831T>G)
c.1305T>G (p.Pro435=)
n.2008T>G
n.1647T>G
c.1551T>G
c.1980T>G (p.Pro660=)
c.*1564T>G (n.*1564T>G)
c.1941T>G (p.Pro647=)
c.2259T>G (p.Pro753=)
c.1473T>G (p.Pro491=)
c.1551T>G (p.Pro517=)
c.1869T>G (p.Pro623=)
c.1815T>G (p.Pro605=)
c.1740T>G (p.Pro580=)
c.1461T>G (p.Pro487=)
n.5476T>G
c.1728T>G (p.Pro576=)
c.1971T>G (p.Pro657=)
c.1689T>G (p.Pro563=)
c.1773T>G (p.Pro591=)
c.1932T>G (p.Pro644=)
c.1761T>G (p.Pro587=)
c.1866T>G (p.Pro622=)
n.976T>G
c.1293T>G (p.Pro431=)
c.183T>G (p.Pro61=)
c.1950T>G (p.Pro650=)
c.1878T>G (p.Pro626=)
c.1827T>G (p.Pro609=)
c.1743T>G (p.Pro581=)
c.1470T>G (p.Pro490=)
c.2256T>G (p.Pro752=)
c.2247T>G (p.Pro749=)
c.2244T>G (p.Pro748=)
c.1947T>G (p.Pro649=)
c.1458T>G (p.Pro486=)
c.1938T>G (p.Pro646=)
c.1863T>G (p.Pro621=)
c.1824T>G (p.Pro608=)
c.1737T>G (p.Pro579=)
c.1731T>G (p.Pro577=)
c.1560T>G (p.Pro520=)
c.1716T>G (p.Pro572=)
c.1884T>G (p.Pro628=)
18g.55228288A>GCA504001628TCF4c.1953T>C (p.Pro651=)
c.1833T>C (p.Pro611=)
n.1633T>C
c.1881T>C (p.Pro627=)
c.*1661T>C (n.*1661T>C)
c.1563T>C (p.Pro521=)
c.*1831T>C (n.*1831T>C)
c.1305T>C (p.Pro435=)
n.2008T>C
n.1647T>C
c.1551T>C
c.1980T>C (p.Pro660=)
c.*1564T>C (n.*1564T>C)
c.1941T>C (p.Pro647=)
c.2259T>C (p.Pro753=)
c.1473T>C (p.Pro491=)
c.1551T>C (p.Pro517=)
c.1869T>C (p.Pro623=)
c.1815T>C (p.Pro605=)
c.1740T>C (p.Pro580=)
c.1461T>C (p.Pro487=)
n.5476T>C
c.1728T>C (p.Pro576=)
c.1971T>C (p.Pro657=)
c.1689T>C (p.Pro563=)
c.1773T>C (p.Pro591=)
c.1932T>C (p.Pro644=)
c.1761T>C (p.Pro587=)
c.1866T>C (p.Pro622=)
n.976T>C
c.1293T>C (p.Pro431=)
c.183T>C (p.Pro61=)
c.1950T>C (p.Pro650=)
c.1878T>C (p.Pro626=)
c.1827T>C (p.Pro609=)
c.1743T>C (p.Pro581=)
c.1470T>C (p.Pro490=)
c.2256T>C (p.Pro752=)
c.2247T>C (p.Pro749=)
c.2244T>C (p.Pro748=)
c.1947T>C (p.Pro649=)
c.1458T>C (p.Pro486=)
c.1938T>C (p.Pro646=)
c.1863T>C (p.Pro621=)
c.1824T>C (p.Pro608=)
c.1737T>C (p.Pro579=)
c.1731T>C (p.Pro577=)
c.1560T>C (p.Pro520=)
c.1716T>C (p.Pro572=)
c.1884T>C (p.Pro628=)
18g.55228288A>TCA504001630TCF4c.1953T>A (p.Pro651=)
c.1833T>A (p.Pro611=)
n.1633T>A
c.1881T>A (p.Pro627=)
c.*1661T>A (n.*1661T>A)
c.1563T>A (p.Pro521=)
c.*1831T>A (n.*1831T>A)
c.1305T>A (p.Pro435=)
n.2008T>A
n.1647T>A
c.1551T>A
c.1980T>A (p.Pro660=)
c.*1564T>A (n.*1564T>A)
c.1941T>A (p.Pro647=)
c.2259T>A (p.Pro753=)
c.1473T>A (p.Pro491=)
c.1551T>A (p.Pro517=)
c.1869T>A (p.Pro623=)
c.1815T>A (p.Pro605=)
c.1740T>A (p.Pro580=)
c.1461T>A (p.Pro487=)
n.5476T>A
c.1728T>A (p.Pro576=)
c.1971T>A (p.Pro657=)
c.1689T>A (p.Pro563=)
c.1773T>A (p.Pro591=)
c.1932T>A (p.Pro644=)
c.1761T>A (p.Pro587=)
c.1866T>A (p.Pro622=)
n.976T>A
c.1293T>A (p.Pro431=)
c.183T>A (p.Pro61=)
c.1950T>A (p.Pro650=)
c.1878T>A (p.Pro626=)
c.1827T>A (p.Pro609=)
c.1743T>A (p.Pro581=)
c.1470T>A (p.Pro490=)
c.2256T>A (p.Pro752=)
c.2247T>A (p.Pro749=)
c.2244T>A (p.Pro748=)
c.1947T>A (p.Pro649=)
c.1458T>A (p.Pro486=)
c.1938T>A (p.Pro646=)
c.1863T>A (p.Pro621=)
c.1824T>A (p.Pro608=)
c.1737T>A (p.Pro579=)
c.1731T>A (p.Pro577=)
c.1560T>A (p.Pro520=)
c.1716T>A (p.Pro572=)
c.1884T>A (p.Pro628=)
18g.55228289G>ACA402527662TCF4c.1952C>T (p.Pro651Leu)
c.1832C>T (p.Pro611Leu)
n.1632C>T
c.1880C>T (p.Pro627Leu)
c.*1660C>T (n.*1660C>T)
c.1562C>T (p.Pro521Leu)
c.*1830C>T (n.*1830C>T)
c.1304C>T (p.Pro435Leu)
n.2007C>T
n.1646C>T
c.1550C>T
c.1979C>T (p.Pro660Leu)
c.*1563C>T (n.*1563C>T)
c.1940C>T (p.Pro647Leu)
c.2258C>T (p.Pro753Leu)
c.1472C>T (p.Pro491Leu)
c.1550C>T (p.Pro517Leu)
c.1868C>T (p.Pro623Leu)
c.1814C>T (p.Pro605Leu)
c.1739C>T (p.Pro580Leu)
c.1460C>T (p.Pro487Leu)
n.5475C>T
c.1727C>T (p.Pro576Leu)
c.1970C>T (p.Pro657Leu)
c.1688C>T (p.Pro563Leu)
c.1772C>T (p.Pro591Leu)
c.1931C>T (p.Pro644Leu)
c.1760C>T (p.Pro587Leu)
c.1865C>T (p.Pro622Leu)
n.975C>T
c.1292C>T (p.Pro431Leu)
c.182C>T (p.Pro61Leu)
c.1949C>T (p.Pro650Leu)
c.1877C>T (p.Pro626Leu)
c.1826C>T (p.Pro609Leu)
c.1742C>T (p.Pro581Leu)
c.1469C>T (p.Pro490Leu)
c.2255C>T (p.Pro752Leu)
c.2246C>T (p.Pro749Leu)
c.2243C>T (p.Pro748Leu)
c.1946C>T (p.Pro649Leu)
c.1457C>T (p.Pro486Leu)
c.1937C>T (p.Pro646Leu)
c.1862C>T (p.Pro621Leu)
c.1823C>T (p.Pro608Leu)
c.1736C>T (p.Pro579Leu)
c.1730C>T (p.Pro577Leu)
c.1559C>T (p.Pro520Leu)
c.1715C>T (p.Pro572Leu)
c.1883C>T (p.Pro628Leu)
 gnomAD v4 COSMIC COSMIC
18g.55228289G>CCA300793148TCF4c.1952C>G (p.Pro651Arg)
c.1832C>G (p.Pro611Arg)
n.1632C>G
c.1880C>G (p.Pro627Arg)
c.*1660C>G (n.*1660C>G)
c.1562C>G (p.Pro521Arg)
c.*1830C>G (n.*1830C>G)
c.1304C>G (p.Pro435Arg)
n.2007C>G
n.1646C>G
c.1550C>G
c.1979C>G (p.Pro660Arg)
c.*1563C>G (n.*1563C>G)
c.1940C>G (p.Pro647Arg)
c.2258C>G (p.Pro753Arg)
c.1472C>G (p.Pro491Arg)
c.1550C>G (p.Pro517Arg)
c.1868C>G (p.Pro623Arg)
c.1814C>G (p.Pro605Arg)
c.1739C>G (p.Pro580Arg)
c.1460C>G (p.Pro487Arg)
n.5475C>G
c.1727C>G (p.Pro576Arg)
c.1970C>G (p.Pro657Arg)
c.1688C>G (p.Pro563Arg)
c.1772C>G (p.Pro591Arg)
c.1931C>G (p.Pro644Arg)
c.1760C>G (p.Pro587Arg)
c.1865C>G (p.Pro622Arg)
n.975C>G
c.1292C>G (p.Pro431Arg)
c.182C>G (p.Pro61Arg)
c.1949C>G (p.Pro650Arg)
c.1877C>G (p.Pro626Arg)
c.1826C>G (p.Pro609Arg)
c.1742C>G (p.Pro581Arg)
c.1469C>G (p.Pro490Arg)
c.2255C>G (p.Pro752Arg)
c.2246C>G (p.Pro749Arg)
c.2243C>G (p.Pro748Arg)
c.1946C>G (p.Pro649Arg)
c.1457C>G (p.Pro486Arg)
c.1937C>G (p.Pro646Arg)
c.1862C>G (p.Pro621Arg)
c.1823C>G (p.Pro608Arg)
c.1736C>G (p.Pro579Arg)
c.1730C>G (p.Pro577Arg)
c.1559C>G (p.Pro520Arg)
c.1715C>G (p.Pro572Arg)
c.1883C>G (p.Pro628Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.55228289G=CA2305004538TCF4c.1952C= (p.Pro651=)
c.1832C= (p.Pro611=)
n.1632C=
c.1880C= (p.Pro627=)
c.*1660C= (n.*1660C=)
c.1562C= (p.Pro521=)
c.*1830C= (n.*1830C=)
c.1304C= (p.Pro435=)
n.2007C=
n.1646C=
c.1550C=
c.1979C= (p.Pro660=)
c.*1563C= (n.*1563C=)
c.1940C= (p.Pro647=)
c.2258C= (p.Pro753=)
c.1472C= (p.Pro491=)
c.1550C= (p.Pro517=)
c.1868C= (p.Pro623=)
c.1814C= (p.Pro605=)
c.1739C= (p.Pro580=)
c.1460C= (p.Pro487=)
n.5475C=
c.1727C= (p.Pro576=)
c.1970C= (p.Pro657=)
c.1688C= (p.Pro563=)
c.1772C= (p.Pro591=)
c.1931C= (p.Pro644=)
c.1760C= (p.Pro587=)
c.1865C= (p.Pro622=)
n.975C=
c.1292C= (p.Pro431=)
c.182C= (p.Pro61=)
c.1949C= (p.Pro650=)
c.1877C= (p.Pro626=)
c.1826C= (p.Pro609=)
c.1742C= (p.Pro581=)
c.1469C= (p.Pro490=)
c.2255C= (p.Pro752=)
c.2246C= (p.Pro749=)
c.2243C= (p.Pro748=)
c.1946C= (p.Pro649=)
c.1457C= (p.Pro486=)
c.1937C= (p.Pro646=)
c.1862C= (p.Pro621=)
c.1823C= (p.Pro608=)
c.1736C= (p.Pro579=)
c.1730C= (p.Pro577=)
c.1559C= (p.Pro520=)
c.1715C= (p.Pro572=)
c.1883C= (p.Pro628=)
18g.55228289G>TCA402527663TCF4c.1952C>A (p.Pro651His)
c.1832C>A (p.Pro611His)
n.1632C>A
c.1880C>A (p.Pro627His)
c.*1660C>A (n.*1660C>A)
c.1562C>A (p.Pro521His)
c.*1830C>A (n.*1830C>A)
c.1304C>A (p.Pro435His)
n.2007C>A
n.1646C>A
c.1550C>A
c.1979C>A (p.Pro660His)
c.*1563C>A (n.*1563C>A)
c.1940C>A (p.Pro647His)
c.2258C>A (p.Pro753His)
c.1472C>A (p.Pro491His)
c.1550C>A (p.Pro517His)
c.1868C>A (p.Pro623His)
c.1814C>A (p.Pro605His)
c.1739C>A (p.Pro580His)
c.1460C>A (p.Pro487His)
n.5475C>A
c.1727C>A (p.Pro576His)
c.1970C>A (p.Pro657His)
c.1688C>A (p.Pro563His)
c.1772C>A (p.Pro591His)
c.1931C>A (p.Pro644His)
c.1760C>A (p.Pro587His)
c.1865C>A (p.Pro622His)
n.975C>A
c.1292C>A (p.Pro431His)
c.182C>A (p.Pro61His)
c.1949C>A (p.Pro650His)
c.1877C>A (p.Pro626His)
c.1826C>A (p.Pro609His)
c.1742C>A (p.Pro581His)
c.1469C>A (p.Pro490His)
c.2255C>A (p.Pro752His)
c.2246C>A (p.Pro749His)
c.2243C>A (p.Pro748His)
c.1946C>A (p.Pro649His)
c.1457C>A (p.Pro486His)
c.1937C>A (p.Pro646His)
c.1862C>A (p.Pro621His)
c.1823C>A (p.Pro608His)
c.1736C>A (p.Pro579His)
c.1730C>A (p.Pro577His)
c.1559C>A (p.Pro520His)
c.1715C>A (p.Pro572His)
c.1883C>A (p.Pro628His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.55228293dupCA2580095928TCF4c.1952dup (p.Leu652SerfsTer?)
c.1832dup (p.Leu612SerfsTer?)
n.1632dup
c.1880dup (p.Leu628SerfsTer?)
c.*1660dup (n.*1660dup)
c.1562dup (p.Leu522SerfsTer?)
c.*1830dup (n.*1830dup)
c.1304dup (p.Leu436SerfsTer?)
n.2007dup
n.1646dup
c.1550dup
c.1979dup (p.Leu661SerfsTer?)
c.*1563dup (n.*1563dup)
c.1940dup (p.Leu648SerfsTer?)
c.2258dup (p.Leu754SerfsTer?)
c.1472dup (p.Leu492SerfsTer?)
c.1550dup (p.Leu518SerfsTer?)
c.1868dup (p.Leu624SerfsTer?)
c.1814dup (p.Leu606SerfsTer?)
c.1739dup (p.Leu581SerfsTer?)
c.1460dup (p.Leu488SerfsTer?)
n.5475dup
c.1727dup (p.Leu577SerfsTer?)
c.1970dup (p.Leu658SerfsTer?)
c.1688dup (p.Leu564SerfsTer?)
c.1772dup (p.Leu592SerfsTer?)
c.1931dup (p.Leu645SerfsTer?)
c.1760dup (p.Leu588SerfsTer?)
c.1865dup (p.Leu623SerfsTer?)
n.975dup
c.1292dup (p.Leu432SerfsTer?)
c.182dup (p.Leu62SerfsTer?)
c.1949dup (p.Leu651SerfsTer?)
c.1877dup (p.Leu627SerfsTer?)
c.1826dup (p.Leu610SerfsTer?)
c.1742dup (p.Leu582SerfsTer?)
c.1469dup (p.Leu491SerfsTer?)
c.2255dup (p.Leu753SerfsTer?)
c.2246dup (p.Leu750SerfsTer?)
c.2243dup (p.Leu749SerfsTer?)
c.1946dup (p.Leu650SerfsTer?)
c.1457dup (p.Leu487SerfsTer?)
c.1937dup (p.Leu647SerfsTer?)
c.1862dup (p.Leu622SerfsTer?)
c.1823dup (p.Leu609SerfsTer?)
c.1736dup (p.Leu580SerfsTer?)
c.1730dup (p.Leu578SerfsTer?)
c.1559dup (p.Leu521SerfsTer?)
c.1715dup (p.Leu573SerfsTer?)
c.1883dup (p.Leu629SerfsTer?)
 ClinVar
18g.55228293delCA504001634TCF4c.1952del (p.Pro651LeufsTer?)
c.1832del (p.Pro611LeufsTer?)
n.1632del
c.1880del (p.Pro627LeufsTer?)
c.*1660del (n.*1660del)
c.1562del (p.Pro521LeufsTer?)
c.*1830del (n.*1830del)
c.1304del (p.Pro435LeufsTer?)
n.2007del
n.1646del
c.1550del
c.1979del (p.Pro660LeufsTer?)
c.*1563del (n.*1563del)
c.1940del (p.Pro647LeufsTer?)
c.2258del (p.Pro753LeufsTer?)
c.1472del (p.Pro491LeufsTer?)
c.1550del (p.Pro517LeufsTer?)
c.1868del (p.Pro623LeufsTer?)
c.1814del (p.Pro605LeufsTer?)
c.1739del (p.Pro580LeufsTer?)
c.1460del (p.Pro487LeufsTer?)
n.5475del
c.1727del (p.Pro576LeufsTer?)
c.1970del (p.Pro657LeufsTer?)
c.1688del (p.Pro563LeufsTer?)
c.1772del (p.Pro591LeufsTer?)
c.1931del (p.Pro644LeufsTer?)
c.1760del (p.Pro587LeufsTer?)
c.1865del (p.Pro622LeufsTer?)
n.975del
c.1292del (p.Pro431LeufsTer?)
c.182del (p.Pro61LeufsTer?)
c.1949del (p.Pro650LeufsTer?)
c.1877del (p.Pro626LeufsTer?)
c.1826del (p.Pro609LeufsTer?)
c.1742del (p.Pro581LeufsTer?)
c.1469del (p.Pro490LeufsTer?)
c.2255del (p.Pro752LeufsTer?)
c.2246del (p.Pro749LeufsTer?)
c.2243del (p.Pro748LeufsTer?)
c.1946del (p.Pro649LeufsTer?)
c.1457del (p.Pro486LeufsTer?)
c.1937del (p.Pro646LeufsTer?)
c.1862del (p.Pro621LeufsTer?)
c.1823del (p.Pro608LeufsTer?)
c.1736del (p.Pro579LeufsTer?)
c.1730del (p.Pro577LeufsTer?)
c.1559del (p.Pro520LeufsTer?)
c.1715del (p.Pro572LeufsTer?)
c.1883del (p.Pro628LeufsTer?)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
18g.55228290G>ACA402527664TCF4c.1951C>T (p.Pro651Ser)
c.1831C>T (p.Pro611Ser)
n.1631C>T
c.1879C>T (p.Pro627Ser)
c.*1659C>T (n.*1659C>T)
c.1561C>T (p.Pro521Ser)
c.*1829C>T (n.*1829C>T)
c.1303C>T (p.Pro435Ser)
n.2006C>T
n.1645C>T
c.1549C>T
c.1978C>T (p.Pro660Ser)
c.*1562C>T (n.*1562C>T)
c.1939C>T (p.Pro647Ser)
c.2257C>T (p.Pro753Ser)
c.1471C>T (p.Pro491Ser)
c.1549C>T (p.Pro517Ser)
c.1867C>T (p.Pro623Ser)
c.1813C>T (p.Pro605Ser)
c.1738C>T (p.Pro580Ser)
c.1459C>T (p.Pro487Ser)
n.5474C>T
c.1726C>T (p.Pro576Ser)
c.1969C>T (p.Pro657Ser)
c.1687C>T (p.Pro563Ser)
c.1771C>T (p.Pro591Ser)
c.1930C>T (p.Pro644Ser)
c.1759C>T (p.Pro587Ser)
c.1864C>T (p.Pro622Ser)
n.974C>T
c.1291C>T (p.Pro431Ser)
c.181C>T (p.Pro61Ser)
c.1948C>T (p.Pro650Ser)
c.1876C>T (p.Pro626Ser)
c.1825C>T (p.Pro609Ser)
c.1741C>T (p.Pro581Ser)
c.1468C>T (p.Pro490Ser)
c.2254C>T (p.Pro752Ser)
c.2245C>T (p.Pro749Ser)
c.2242C>T (p.Pro748Ser)
c.1945C>T (p.Pro649Ser)
c.1456C>T (p.Pro486Ser)
c.1936C>T (p.Pro646Ser)
c.1861C>T (p.Pro621Ser)
c.1822C>T (p.Pro608Ser)
c.1735C>T (p.Pro579Ser)
c.1729C>T (p.Pro577Ser)
c.1558C>T (p.Pro520Ser)
c.1714C>T (p.Pro572Ser)
c.1882C>T (p.Pro628Ser)
 dbSNP gnomAD v4
18g.55228290G>CCA8970119TCF4c.1951C>G (p.Pro651Ala)
c.1831C>G (p.Pro611Ala)
n.1631C>G
c.1879C>G (p.Pro627Ala)
c.*1659C>G (n.*1659C>G)
c.1561C>G (p.Pro521Ala)
c.*1829C>G (n.*1829C>G)
c.1303C>G (p.Pro435Ala)
n.2006C>G
n.1645C>G
c.1549C>G
c.1978C>G (p.Pro660Ala)
c.*1562C>G (n.*1562C>G)
c.1939C>G (p.Pro647Ala)
c.2257C>G (p.Pro753Ala)
c.1471C>G (p.Pro491Ala)
c.1549C>G (p.Pro517Ala)
c.1867C>G (p.Pro623Ala)
c.1813C>G (p.Pro605Ala)
c.1738C>G (p.Pro580Ala)
c.1459C>G (p.Pro487Ala)
n.5474C>G
c.1726C>G (p.Pro576Ala)
c.1969C>G (p.Pro657Ala)
c.1687C>G (p.Pro563Ala)
c.1771C>G (p.Pro591Ala)
c.1930C>G (p.Pro644Ala)
c.1759C>G (p.Pro587Ala)
c.1864C>G (p.Pro622Ala)
n.974C>G
c.1291C>G (p.Pro431Ala)
c.181C>G (p.Pro61Ala)
c.1948C>G (p.Pro650Ala)
c.1876C>G (p.Pro626Ala)
c.1825C>G (p.Pro609Ala)
c.1741C>G (p.Pro581Ala)
c.1468C>G (p.Pro490Ala)
c.2254C>G (p.Pro752Ala)
c.2245C>G (p.Pro749Ala)
c.2242C>G (p.Pro748Ala)
c.1945C>G (p.Pro649Ala)
c.1456C>G (p.Pro486Ala)
c.1936C>G (p.Pro646Ala)
c.1861C>G (p.Pro621Ala)
c.1822C>G (p.Pro608Ala)
c.1735C>G (p.Pro579Ala)
c.1729C>G (p.Pro577Ala)
c.1558C>G (p.Pro520Ala)
c.1714C>G (p.Pro572Ala)
c.1882C>G (p.Pro628Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.55228290G=CA2305004539TCF4c.1951C= (p.Pro651=)
c.1831C= (p.Pro611=)
n.1631C=
c.1879C= (p.Pro627=)
c.*1659C= (n.*1659C=)
c.1561C= (p.Pro521=)
c.*1829C= (n.*1829C=)
c.1303C= (p.Pro435=)
n.2006C=
n.1645C=
c.1549C=
c.1978C= (p.Pro660=)
c.*1562C= (n.*1562C=)
c.1939C= (p.Pro647=)
c.2257C= (p.Pro753=)
c.1471C= (p.Pro491=)
c.1549C= (p.Pro517=)
c.1867C= (p.Pro623=)
c.1813C= (p.Pro605=)
c.1738C= (p.Pro580=)
c.1459C= (p.Pro487=)
n.5474C=
c.1726C= (p.Pro576=)
c.1969C= (p.Pro657=)
c.1687C= (p.Pro563=)
c.1771C= (p.Pro591=)
c.1930C= (p.Pro644=)
c.1759C= (p.Pro587=)
c.1864C= (p.Pro622=)
n.974C=
c.1291C= (p.Pro431=)
c.181C= (p.Pro61=)
c.1948C= (p.Pro650=)
c.1876C= (p.Pro626=)
c.1825C= (p.Pro609=)
c.1741C= (p.Pro581=)
c.1468C= (p.Pro490=)
c.2254C= (p.Pro752=)
c.2245C= (p.Pro749=)
c.2242C= (p.Pro748=)
c.1945C= (p.Pro649=)
c.1456C= (p.Pro486=)
c.1936C= (p.Pro646=)
c.1861C= (p.Pro621=)
c.1822C= (p.Pro608=)
c.1735C= (p.Pro579=)
c.1729C= (p.Pro577=)
c.1558C= (p.Pro520=)
c.1714C= (p.Pro572=)
c.1882C= (p.Pro628=)
18g.55228290G>TCA402527665TCF4c.1951C>A (p.Pro651Thr)
c.1831C>A (p.Pro611Thr)
n.1631C>A
c.1879C>A (p.Pro627Thr)
c.*1659C>A (n.*1659C>A)
c.1561C>A (p.Pro521Thr)
c.*1829C>A (n.*1829C>A)
c.1303C>A (p.Pro435Thr)
n.2006C>A
n.1645C>A
c.1549C>A
c.1978C>A (p.Pro660Thr)
c.*1562C>A (n.*1562C>A)
c.1939C>A (p.Pro647Thr)
c.2257C>A (p.Pro753Thr)
c.1471C>A (p.Pro491Thr)
c.1549C>A (p.Pro517Thr)
c.1867C>A (p.Pro623Thr)
c.1813C>A (p.Pro605Thr)
c.1738C>A (p.Pro580Thr)
c.1459C>A (p.Pro487Thr)
n.5474C>A
c.1726C>A (p.Pro576Thr)
c.1969C>A (p.Pro657Thr)
c.1687C>A (p.Pro563Thr)
c.1771C>A (p.Pro591Thr)
c.1930C>A (p.Pro644Thr)
c.1759C>A (p.Pro587Thr)
c.1864C>A (p.Pro622Thr)
n.974C>A
c.1291C>A (p.Pro431Thr)
c.181C>A (p.Pro61Thr)
c.1948C>A (p.Pro650Thr)
c.1876C>A (p.Pro626Thr)
c.1825C>A (p.Pro609Thr)
c.1741C>A (p.Pro581Thr)
c.1468C>A (p.Pro490Thr)
c.2254C>A (p.Pro752Thr)
c.2245C>A (p.Pro749Thr)
c.2242C>A (p.Pro748Thr)
c.1945C>A (p.Pro649Thr)
c.1456C>A (p.Pro486Thr)
c.1936C>A (p.Pro646Thr)
c.1861C>A (p.Pro621Thr)
c.1822C>A (p.Pro608Thr)
c.1735C>A (p.Pro579Thr)
c.1729C>A (p.Pro577Thr)
c.1558C>A (p.Pro520Thr)
c.1714C>A (p.Pro572Thr)
c.1882C>A (p.Pro628Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.55228291G>ACA504001641TCF4c.1950C>T (p.Pro650=)
c.1830C>T (p.Pro610=)
n.1630C>T
c.1878C>T (p.Pro626=)
c.*1658C>T (n.*1658C>T)
c.1560C>T (p.Pro520=)
c.*1828C>T (n.*1828C>T)
c.1302C>T (p.Pro434=)
n.2005C>T
n.1644C>T
c.1548C>T
c.1977C>T (p.Pro659=)
c.*1561C>T (n.*1561C>T)
c.1938C>T (p.Pro646=)
c.2256C>T (p.Pro752=)
c.1470C>T (p.Pro490=)
c.1548C>T (p.Pro516=)
c.1866C>T (p.Pro622=)
c.1812C>T (p.Pro604=)
c.1737C>T (p.Pro579=)
c.1458C>T (p.Pro486=)
n.5473C>T
c.1725C>T (p.Pro575=)
c.1968C>T (p.Pro656=)
c.1686C>T (p.Pro562=)
c.1770C>T (p.Pro590=)
c.1929C>T (p.Pro643=)
c.1758C>T (p.Pro586=)
c.1863C>T (p.Pro621=)
n.973C>T
c.1290C>T (p.Pro430=)
c.180C>T (p.Pro60=)
c.1947C>T (p.Pro649=)
c.1875C>T (p.Pro625=)
c.1824C>T (p.Pro608=)
c.1740C>T (p.Pro580=)
c.1467C>T (p.Pro489=)
c.2253C>T (p.Pro751=)
c.2244C>T (p.Pro748=)
c.2241C>T (p.Pro747=)
c.1944C>T (p.Pro648=)
c.1455C>T (p.Pro485=)
c.1935C>T (p.Pro645=)
c.1860C>T (p.Pro620=)
c.1821C>T (p.Pro607=)
c.1734C>T (p.Pro578=)
c.1728C>T (p.Pro576=)
c.1557C>T (p.Pro519=)
c.1713C>T (p.Pro571=)
c.1881C>T (p.Pro627=)
 dbSNP gnomAD v2 gnomAD v4
18g.55228291G>CCA8970120TCF4c.1950C>G (p.Pro650=)
c.1830C>G (p.Pro610=)
n.1630C>G
c.1878C>G (p.Pro626=)
c.*1658C>G (n.*1658C>G)
c.1560C>G (p.Pro520=)
c.*1828C>G (n.*1828C>G)
c.1302C>G (p.Pro434=)
n.2005C>G
n.1644C>G
c.1548C>G
c.1977C>G (p.Pro659=)
c.*1561C>G (n.*1561C>G)
c.1938C>G (p.Pro646=)
c.2256C>G (p.Pro752=)
c.1470C>G (p.Pro490=)
c.1548C>G (p.Pro516=)
c.1866C>G (p.Pro622=)
c.1812C>G (p.Pro604=)
c.1737C>G (p.Pro579=)
c.1458C>G (p.Pro486=)
n.5473C>G
c.1725C>G (p.Pro575=)
c.1968C>G (p.Pro656=)
c.1686C>G (p.Pro562=)
c.1770C>G (p.Pro590=)
c.1929C>G (p.Pro643=)
c.1758C>G (p.Pro586=)
c.1863C>G (p.Pro621=)
n.973C>G
c.1290C>G (p.Pro430=)
c.180C>G (p.Pro60=)
c.1947C>G (p.Pro649=)
c.1875C>G (p.Pro625=)
c.1824C>G (p.Pro608=)
c.1740C>G (p.Pro580=)
c.1467C>G (p.Pro489=)
c.2253C>G (p.Pro751=)
c.2244C>G (p.Pro748=)
c.2241C>G (p.Pro747=)
c.1944C>G (p.Pro648=)
c.1455C>G (p.Pro485=)
c.1935C>G (p.Pro645=)
c.1860C>G (p.Pro620=)
c.1821C>G (p.Pro607=)
c.1734C>G (p.Pro578=)
c.1728C>G (p.Pro576=)
c.1557C>G (p.Pro519=)
c.1713C>G (p.Pro571=)
c.1881C>G (p.Pro627=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.55228291G=CA2305004540TCF4c.1950C= (p.Pro650=)
c.1830C= (p.Pro610=)
n.1630C=
c.1878C= (p.Pro626=)
c.*1658C= (n.*1658C=)
c.1560C= (p.Pro520=)
c.*1828C= (n.*1828C=)
c.1302C= (p.Pro434=)
n.2005C=
n.1644C=
c.1548C=
c.1977C= (p.Pro659=)
c.*1561C= (n.*1561C=)
c.1938C= (p.Pro646=)
c.2256C= (p.Pro752=)
c.1470C= (p.Pro490=)
c.1548C= (p.Pro516=)
c.1866C= (p.Pro622=)
c.1812C= (p.Pro604=)
c.1737C= (p.Pro579=)
c.1458C= (p.Pro486=)
n.5473C=
c.1725C= (p.Pro575=)
c.1968C= (p.Pro656=)
c.1686C= (p.Pro562=)
c.1770C= (p.Pro590=)
c.1929C= (p.Pro643=)
c.1758C= (p.Pro586=)
c.1863C= (p.Pro621=)
n.973C=
c.1290C= (p.Pro430=)
c.180C= (p.Pro60=)
c.1947C= (p.Pro649=)
c.1875C= (p.Pro625=)
c.1824C= (p.Pro608=)
c.1740C= (p.Pro580=)
c.1467C= (p.Pro489=)
c.2253C= (p.Pro751=)
c.2244C= (p.Pro748=)
c.2241C= (p.Pro747=)
c.1944C= (p.Pro648=)
c.1455C= (p.Pro485=)
c.1935C= (p.Pro645=)
c.1860C= (p.Pro620=)
c.1821C= (p.Pro607=)
c.1734C= (p.Pro578=)
c.1728C= (p.Pro576=)
c.1557C= (p.Pro519=)
c.1713C= (p.Pro571=)
c.1881C= (p.Pro627=)
18g.55228291G>TCA504001642TCF4c.1950C>A (p.Pro650=)
c.1830C>A (p.Pro610=)
n.1630C>A
c.1878C>A (p.Pro626=)
c.*1658C>A (n.*1658C>A)
c.1560C>A (p.Pro520=)
c.*1828C>A (n.*1828C>A)
c.1302C>A (p.Pro434=)
n.2005C>A
n.1644C>A
c.1548C>A
c.1977C>A (p.Pro659=)
c.*1561C>A (n.*1561C>A)
c.1938C>A (p.Pro646=)
c.2256C>A (p.Pro752=)
c.1470C>A (p.Pro490=)
c.1548C>A (p.Pro516=)
c.1866C>A (p.Pro622=)
c.1812C>A (p.Pro604=)
c.1737C>A (p.Pro579=)
c.1458C>A (p.Pro486=)
n.5473C>A
c.1725C>A (p.Pro575=)
c.1968C>A (p.Pro656=)
c.1686C>A (p.Pro562=)
c.1770C>A (p.Pro590=)
c.1929C>A (p.Pro643=)
c.1758C>A (p.Pro586=)
c.1863C>A (p.Pro621=)
n.973C>A
c.1290C>A (p.Pro430=)
c.180C>A (p.Pro60=)
c.1947C>A (p.Pro649=)
c.1875C>A (p.Pro625=)
c.1824C>A (p.Pro608=)
c.1740C>A (p.Pro580=)
c.1467C>A (p.Pro489=)
c.2253C>A (p.Pro751=)
c.2244C>A (p.Pro748=)
c.2241C>A (p.Pro747=)
c.1944C>A (p.Pro648=)
c.1455C>A (p.Pro485=)
c.1935C>A (p.Pro645=)
c.1860C>A (p.Pro620=)
c.1821C>A (p.Pro607=)
c.1734C>A (p.Pro578=)
c.1728C>A (p.Pro576=)
c.1557C>A (p.Pro519=)
c.1713C>A (p.Pro571=)
c.1881C>A (p.Pro627=)
 dbSNP
18g.55228292G>ACA402527666TCF4c.1949C>T (p.Pro650Leu)
c.1829C>T (p.Pro610Leu)
n.1629C>T
c.1877C>T (p.Pro626Leu)
c.*1657C>T (n.*1657C>T)
c.1559C>T (p.Pro520Leu)
c.*1827C>T (n.*1827C>T)
c.1301C>T (p.Pro434Leu)
n.2004C>T
n.1643C>T
c.1547C>T
c.1976C>T (p.Pro659Leu)
c.*1560C>T (n.*1560C>T)
c.1937C>T (p.Pro646Leu)
c.2255C>T (p.Pro752Leu)
c.1469C>T (p.Pro490Leu)
c.1547C>T (p.Pro516Leu)
c.1865C>T (p.Pro622Leu)
c.1811C>T (p.Pro604Leu)
c.1736C>T (p.Pro579Leu)
c.1457C>T (p.Pro486Leu)
n.5472C>T
c.1724C>T (p.Pro575Leu)
c.1967C>T (p.Pro656Leu)
c.1685C>T (p.Pro562Leu)
c.1769C>T (p.Pro590Leu)
c.1928C>T (p.Pro643Leu)
c.1757C>T (p.Pro586Leu)
c.1862C>T (p.Pro621Leu)
n.972C>T
c.1289C>T (p.Pro430Leu)
c.179C>T (p.Pro60Leu)
c.1946C>T (p.Pro649Leu)
c.1874C>T (p.Pro625Leu)
c.1823C>T (p.Pro608Leu)
c.1739C>T (p.Pro580Leu)
c.1466C>T (p.Pro489Leu)
c.2252C>T (p.Pro751Leu)
c.2243C>T (p.Pro748Leu)
c.2240C>T (p.Pro747Leu)
c.1943C>T (p.Pro648Leu)
c.1454C>T (p.Pro485Leu)
c.1934C>T (p.Pro645Leu)
c.1859C>T (p.Pro620Leu)
c.1820C>T (p.Pro607Leu)
c.1733C>T (p.Pro578Leu)
c.1727C>T (p.Pro576Leu)
c.1556C>T (p.Pro519Leu)
c.1712C>T (p.Pro571Leu)
c.1880C>T (p.Pro627Leu)
 gnomAD v4
18g.55228292G>CCA402527667TCF4c.1949C>G (p.Pro650Arg)
c.1829C>G (p.Pro610Arg)
n.1629C>G
c.1877C>G (p.Pro626Arg)
c.*1657C>G (n.*1657C>G)
c.1559C>G (p.Pro520Arg)
c.*1827C>G (n.*1827C>G)
c.1301C>G (p.Pro434Arg)
n.2004C>G
n.1643C>G
c.1547C>G
c.1976C>G (p.Pro659Arg)
c.*1560C>G (n.*1560C>G)
c.1937C>G (p.Pro646Arg)
c.2255C>G (p.Pro752Arg)
c.1469C>G (p.Pro490Arg)
c.1547C>G (p.Pro516Arg)
c.1865C>G (p.Pro622Arg)
c.1811C>G (p.Pro604Arg)
c.1736C>G (p.Pro579Arg)
c.1457C>G (p.Pro486Arg)
n.5472C>G
c.1724C>G (p.Pro575Arg)
c.1967C>G (p.Pro656Arg)
c.1685C>G (p.Pro562Arg)
c.1769C>G (p.Pro590Arg)
c.1928C>G (p.Pro643Arg)
c.1757C>G (p.Pro586Arg)
c.1862C>G (p.Pro621Arg)
n.972C>G
c.1289C>G (p.Pro430Arg)
c.179C>G (p.Pro60Arg)
c.1946C>G (p.Pro649Arg)
c.1874C>G (p.Pro625Arg)
c.1823C>G (p.Pro608Arg)
c.1739C>G (p.Pro580Arg)
c.1466C>G (p.Pro489Arg)
c.2252C>G (p.Pro751Arg)
c.2243C>G (p.Pro748Arg)
c.2240C>G (p.Pro747Arg)
c.1943C>G (p.Pro648Arg)
c.1454C>G (p.Pro485Arg)
c.1934C>G (p.Pro645Arg)
c.1859C>G (p.Pro620Arg)
c.1820C>G (p.Pro607Arg)
c.1733C>G (p.Pro578Arg)
c.1727C>G (p.Pro576Arg)
c.1556C>G (p.Pro519Arg)
c.1712C>G (p.Pro571Arg)
c.1880C>G (p.Pro627Arg)
 dbSNP
18g.55228292G=CA2305004541TCF4c.1949C= (p.Pro650=)
c.1829C= (p.Pro610=)
n.1629C=
c.1877C= (p.Pro626=)
c.*1657C= (n.*1657C=)
c.1559C= (p.Pro520=)
c.*1827C= (n.*1827C=)
c.1301C= (p.Pro434=)
n.2004C=
n.1643C=
c.1547C=
c.1976C= (p.Pro659=)
c.*1560C= (n.*1560C=)
c.1937C= (p.Pro646=)
c.2255C= (p.Pro752=)
c.1469C= (p.Pro490=)
c.1547C= (p.Pro516=)
c.1865C= (p.Pro622=)
c.1811C= (p.Pro604=)
c.1736C= (p.Pro579=)
c.1457C= (p.Pro486=)
n.5472C=
c.1724C= (p.Pro575=)
c.1967C= (p.Pro656=)
c.1685C= (p.Pro562=)
c.1769C= (p.Pro590=)
c.1928C= (p.Pro643=)
c.1757C= (p.Pro586=)
c.1862C= (p.Pro621=)
n.972C=
c.1289C= (p.Pro430=)
c.179C= (p.Pro60=)
c.1946C= (p.Pro649=)
c.1874C= (p.Pro625=)
c.1823C= (p.Pro608=)
c.1739C= (p.Pro580=)
c.1466C= (p.Pro489=)
c.2252C= (p.Pro751=)
c.2243C= (p.Pro748=)
c.2240C= (p.Pro747=)
c.1943C= (p.Pro648=)
c.1454C= (p.Pro485=)
c.1934C= (p.Pro645=)
c.1859C= (p.Pro620=)
c.1820C= (p.Pro607=)
c.1733C= (p.Pro578=)
c.1727C= (p.Pro576=)
c.1556C= (p.Pro519=)
c.1712C= (p.Pro571=)
c.1880C= (p.Pro627=)
18g.55228292G>TCA402527668TCF4c.1949C>A (p.Pro650His)
c.1829C>A (p.Pro610His)
n.1629C>A
c.1877C>A (p.Pro626His)
c.*1657C>A (n.*1657C>A)
c.1559C>A (p.Pro520His)
c.*1827C>A (n.*1827C>A)
c.1301C>A (p.Pro434His)
n.2004C>A
n.1643C>A
c.1547C>A
c.1976C>A (p.Pro659His)
c.*1560C>A (n.*1560C>A)
c.1937C>A (p.Pro646His)
c.2255C>A (p.Pro752His)
c.1469C>A (p.Pro490His)
c.1547C>A (p.Pro516His)
c.1865C>A (p.Pro622His)
c.1811C>A (p.Pro604His)
c.1736C>A (p.Pro579His)
c.1457C>A (p.Pro486His)
n.5472C>A
c.1724C>A (p.Pro575His)
c.1967C>A (p.Pro656His)
c.1685C>A (p.Pro562His)
c.1769C>A (p.Pro590His)
c.1928C>A (p.Pro643His)
c.1757C>A (p.Pro586His)
c.1862C>A (p.Pro621His)
n.972C>A
c.1289C>A (p.Pro430His)
c.179C>A (p.Pro60His)
c.1946C>A (p.Pro649His)
c.1874C>A (p.Pro625His)
c.1823C>A (p.Pro608His)
c.1739C>A (p.Pro580His)
c.1466C>A (p.Pro489His)
c.2252C>A (p.Pro751His)
c.2243C>A (p.Pro748His)
c.2240C>A (p.Pro747His)
c.1943C>A (p.Pro648His)
c.1454C>A (p.Pro485His)
c.1934C>A (p.Pro645His)
c.1859C>A (p.Pro620His)
c.1820C>A (p.Pro607His)
c.1733C>A (p.Pro578His)
c.1727C>A (p.Pro576His)
c.1556C>A (p.Pro519His)
c.1712C>A (p.Pro571His)
c.1880C>A (p.Pro627His)

Number of alleles fetched