Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.746099T>ACA497383771GEMIN4c.1944A>T (p.Pro648=)
c.1911A>T (p.Pro637=)
c.1956A>T (p.Pro652=)
17g.746099T>CCA497383772GEMIN4c.1944A>G (p.Pro648=)
c.1911A>G (p.Pro637=)
c.1956A>G (p.Pro652=)
 COSMIC COSMIC
17g.746099T>GCA497383773GEMIN4c.1944A>C (p.Pro648=)
c.1911A>C (p.Pro637=)
c.1956A>C (p.Pro652=)
17g.746100G>ACA397506030GEMIN4c.1943C>T (p.Pro648Leu)
c.1910C>T (p.Pro637Leu)
c.1955C>T (p.Pro652Leu)
 dbSNP gnomAD v4
17g.746100G>CCA397506031GEMIN4c.1943C>G (p.Pro648Arg)
c.1910C>G (p.Pro637Arg)
c.1955C>G (p.Pro652Arg)
17g.746100G=CA2242474563GEMIN4c.1943C= (p.Pro648=)
c.1910C= (p.Pro637=)
c.1955C= (p.Pro652=)
17g.746100G>TCA397506032GEMIN4c.1943C>A (p.Pro648Gln)
c.1910C>A (p.Pro637Gln)
c.1955C>A (p.Pro652Gln)
17g.746101G>ACA397506033GEMIN4c.1942C>T (p.Pro648Ser)
c.1909C>T (p.Pro637Ser)
c.1954C>T (p.Pro652Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746101G>CCA397506034GEMIN4c.1942C>G (p.Pro648Ala)
c.1909C>G (p.Pro637Ala)
c.1954C>G (p.Pro652Ala)
17g.746101G=CA2242474564GEMIN4c.1942C= (p.Pro648=)
c.1909C= (p.Pro637=)
c.1954C= (p.Pro652=)
17g.746101G>TCA397506035GEMIN4c.1942C>A (p.Pro648Thr)
c.1909C>A (p.Pro637Thr)
c.1954C>A (p.Pro652Thr)
17g.746102C>ACA397506036GEMIN4c.1941G>T (p.Glu647Asp)
c.1908G>T (p.Glu636Asp)
c.1953G>T (p.Glu651Asp)
17g.746102C=CA2242474565GEMIN4c.1941G= (p.Glu647=)
c.1908G= (p.Glu636=)
c.1953G= (p.Glu651=)
17g.746102C>GCA397506037GEMIN4c.1941G>C (p.Glu647Asp)
c.1908G>C (p.Glu636Asp)
c.1953G>C (p.Glu651Asp)
17g.746102C>TCA497383775GEMIN4c.1941G>A (p.Glu647=)
c.1908G>A (p.Glu636=)
c.1953G>A (p.Glu651=)
 dbSNP gnomAD v2 gnomAD v4
17g.746103T>ACA397506039GEMIN4c.1940A>T (p.Glu647Val)
c.1907A>T (p.Glu636Val)
c.1952A>T (p.Glu651Val)
17g.746103T>CCA8262518GEMIN4c.1940A>G (p.Glu647Gly)
c.1907A>G (p.Glu636Gly)
c.1952A>G (p.Glu651Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746103T>GCA397506038GEMIN4c.1940A>C (p.Glu647Ala)
c.1907A>C (p.Glu636Ala)
c.1952A>C (p.Glu651Ala)
17g.746103T=CA2242474566GEMIN4c.1940A= (p.Glu647=)
c.1907A= (p.Glu636=)
c.1952A= (p.Glu651=)
17g.746104C>ACA397506040GEMIN4c.1939G>T (p.Glu647Ter)
c.1906G>T (p.Glu636Ter)
c.1951G>T (p.Glu651Ter)
 dbSNP
17g.746104C=CA2242474568GEMIN4c.1939G= (p.Glu647=)
c.1906G= (p.Glu636=)
c.1951G= (p.Glu651=)
17g.746104C>GCA397506041GEMIN4c.1939G>C (p.Glu647Gln)
c.1906G>C (p.Glu636Gln)
c.1951G>C (p.Glu651Gln)
 COSMIC COSMIC
17g.746104C>TCA397506042GEMIN4c.1939G>A (p.Glu647Lys)
c.1906G>A (p.Glu636Lys)
c.1951G>A (p.Glu651Lys)
17g.746104_746107delinsCAAGCA2242474567GEMIN4c.1936_1939delinsCTTG (p.Leu646=)
c.1903_1906delinsCTTG (p.Leu635=)
c.1948_1951delinsCTTG (p.Leu650=)
17g.746105A>CCA497383779GEMIN4c.1938T>G (p.Leu646=)
c.1905T>G (p.Leu635=)
c.1950T>G (p.Leu650=)
 gnomAD v4
17g.746105A>GCA497383780GEMIN4c.1938T>C (p.Leu646=)
c.1905T>C (p.Leu635=)
c.1950T>C (p.Leu650=)
17g.746105A>TCA497383781GEMIN4c.1938T>A (p.Leu646=)
c.1905T>A (p.Leu635=)
c.1950T>A (p.Leu650=)
17g.746109_746111delCA8262519GEMIN4c.1936_1938del (p.Leu646del)
c.1903_1905del (p.Leu635del)
c.1948_1950del (p.Leu650del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746106A>CCA397506043GEMIN4c.1937T>G (p.Leu646Arg)
c.1904T>G (p.Leu635Arg)
c.1949T>G (p.Leu650Arg)
17g.746106A>GCA397506044GEMIN4c.1937T>C (p.Leu646Pro)
c.1904T>C (p.Leu635Pro)
c.1949T>C (p.Leu650Pro)
17g.746106A>TCA397506045GEMIN4c.1937T>A (p.Leu646His)
c.1904T>A (p.Leu635His)
c.1949T>A (p.Leu650His)
17g.746107G>ACA397506046GEMIN4c.1936C>T (p.Leu646Phe)
c.1903C>T (p.Leu635Phe)
c.1948C>T (p.Leu650Phe)
 gnomAD v4
17g.746107G>CCA397506047GEMIN4c.1936C>G (p.Leu646Val)
c.1903C>G (p.Leu635Val)
c.1948C>G (p.Leu650Val)
17g.746107G>TCA397506048GEMIN4c.1936C>A (p.Leu646Ile)
c.1903C>A (p.Leu635Ile)
c.1948C>A (p.Leu650Ile)
17g.746108A>CCA497383787GEMIN4c.1935T>G (p.Leu645=)
c.1902T>G (p.Leu634=)
c.1947T>G (p.Leu649=)
17g.746108A>GCA497383785GEMIN4c.1935T>C (p.Leu645=)
c.1902T>C (p.Leu634=)
c.1947T>C (p.Leu649=)
17g.746108A>TCA497383786GEMIN4c.1935T>A (p.Leu645=)
c.1902T>A (p.Leu634=)
c.1947T>A (p.Leu649=)
17g.746109A>CCA397506049GEMIN4c.1934T>G (p.Leu645Arg)
c.1901T>G (p.Leu634Arg)
c.1946T>G (p.Leu649Arg)
17g.746109A>GCA397506050GEMIN4c.1934T>C (p.Leu645Pro)
c.1901T>C (p.Leu634Pro)
c.1946T>C (p.Leu649Pro)
17g.746109A>TCA397506051GEMIN4c.1934T>A (p.Leu645His)
c.1901T>A (p.Leu634His)
c.1946T>A (p.Leu649His)
17g.746110G>ACA286713675GEMIN4c.1933C>T (p.Leu645Phe)
c.1900C>T (p.Leu634Phe)
c.1945C>T (p.Leu649Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.746110G>CCA397506053GEMIN4c.1933C>G (p.Leu645Val)
c.1900C>G (p.Leu634Val)
c.1945C>G (p.Leu649Val)
17g.746110G=CA2242474569GEMIN4c.1933C= (p.Leu645=)
c.1900C= (p.Leu634=)
c.1945C= (p.Leu649=)
17g.746110G>TCA397506052GEMIN4c.1933C>A (p.Leu645Ile)
c.1900C>A (p.Leu634Ile)
c.1945C>A (p.Leu649Ile)
17g.746111A>CCA497383791GEMIN4c.1932T>G (p.Ala644=)
c.1899T>G (p.Ala633=)
c.1944T>G (p.Ala648=)
17g.746111A>GCA497383792GEMIN4c.1932T>C (p.Ala644=)
c.1899T>C (p.Ala633=)
c.1944T>C (p.Ala648=)
 gnomAD v4
17g.746111A>TCA497383793GEMIN4c.1932T>A (p.Ala644=)
c.1899T>A (p.Ala633=)
c.1944T>A (p.Ala648=)
17g.746112G>ACA397506054GEMIN4c.1931C>T (p.Ala644Val)
c.1898C>T (p.Ala633Val)
c.1943C>T (p.Ala648Val)
 dbSNP gnomAD v3 gnomAD v4
17g.746112G>CCA8262520GEMIN4c.1931C>G (p.Ala644Gly)
c.1898C>G (p.Ala633Gly)
c.1943C>G (p.Ala648Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746112G=CA2242474570GEMIN4c.1931C= (p.Ala644=)
c.1898C= (p.Ala633=)
c.1943C= (p.Ala648=)
17g.746112G>TCA397506055GEMIN4c.1931C>A (p.Ala644Asp)
c.1898C>A (p.Ala633Asp)
c.1943C>A (p.Ala648Asp)
17g.746113C>ACA397506056GEMIN4c.1930G>T (p.Ala644Ser)
c.1897G>T (p.Ala633Ser)
c.1942G>T (p.Ala648Ser)
17g.746113C>GCA397506057GEMIN4c.1930G>C (p.Ala644Pro)
c.1897G>C (p.Ala633Pro)
c.1942G>C (p.Ala648Pro)
17g.746113C>TCA397506058GEMIN4c.1930G>A (p.Ala644Thr)
c.1897G>A (p.Ala633Thr)
c.1942G>A (p.Ala648Thr)
17g.746114A>CCA497383798GEMIN4c.1929T>G (p.Ala643=)
c.1896T>G (p.Ala632=)
c.1941T>G (p.Ala647=)
17g.746114A>GCA497383799GEMIN4c.1929T>C (p.Ala643=)
c.1896T>C (p.Ala632=)
c.1941T>C (p.Ala647=)
17g.746114A>TCA497383800GEMIN4c.1929T>A (p.Ala643=)
c.1896T>A (p.Ala632=)
c.1941T>A (p.Ala647=)
17g.746115G>ACA397506059GEMIN4c.1928C>T (p.Ala643Val)
c.1895C>T (p.Ala632Val)
c.1940C>T (p.Ala647Val)
17g.746115G>CCA397506060GEMIN4c.1928C>G (p.Ala643Gly)
c.1895C>G (p.Ala632Gly)
c.1940C>G (p.Ala647Gly)
17g.746115G>TCA397506061GEMIN4c.1928C>A (p.Ala643Asp)
c.1895C>A (p.Ala632Asp)
c.1940C>A (p.Ala647Asp)
17g.746116C>ACA397506062GEMIN4c.1927G>T (p.Ala643Ser)
c.1894G>T (p.Ala632Ser)
c.1939G>T (p.Ala647Ser)
17g.746116C>GCA397506063GEMIN4c.1927G>C (p.Ala643Pro)
c.1894G>C (p.Ala632Pro)
c.1939G>C (p.Ala647Pro)
17g.746116C>TCA397506064GEMIN4c.1927G>A (p.Ala643Thr)
c.1894G>A (p.Ala632Thr)
c.1939G>A (p.Ala647Thr)
 gnomAD v4
17g.746117C>ACA497383802GEMIN4c.1926G>T (p.Val642=)
c.1893G>T (p.Val631=)
c.1938G>T (p.Val646=)
17g.746117C>GCA497383803GEMIN4c.1926G>C (p.Val642=)
c.1893G>C (p.Val631=)
c.1938G>C (p.Val646=)
 gnomAD v4
17g.746117C>TCA497383804GEMIN4c.1926G>A (p.Val642=)
c.1893G>A (p.Val631=)
c.1938G>A (p.Val646=)
 COSMIC COSMIC
17g.746118A=CA2242474571GEMIN4c.1925T= (p.Val642=)
c.1892T= (p.Val631=)
c.1937T= (p.Val646=)
17g.746118A>CCA397506065GEMIN4c.1925T>G (p.Val642Gly)
c.1892T>G (p.Val631Gly)
c.1937T>G (p.Val646Gly)
17g.746118A>GCA397506066GEMIN4c.1925T>C (p.Val642Ala)
c.1892T>C (p.Val631Ala)
c.1937T>C (p.Val646Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746118A>TCA397506067GEMIN4c.1925T>A (p.Val642Glu)
c.1892T>A (p.Val631Glu)
c.1937T>A (p.Val646Glu)
17g.746119C>ACA397506068GEMIN4c.1924G>T (p.Val642Leu)
c.1891G>T (p.Val631Leu)
c.1936G>T (p.Val646Leu)
17g.746119C>GCA397506070GEMIN4c.1924G>C (p.Val642Leu)
c.1891G>C (p.Val631Leu)
c.1936G>C (p.Val646Leu)
17g.746119C>TCA397506069GEMIN4c.1924G>A (p.Val642Met)
c.1891G>A (p.Val631Met)
c.1936G>A (p.Val646Met)
 gnomAD v4
17g.746120T>ACA497383808GEMIN4c.1923A>T (p.Pro641=)
c.1890A>T (p.Pro630=)
c.1935A>T (p.Pro645=)
17g.746120T>CCA497383809GEMIN4c.1923A>G (p.Pro641=)
c.1890A>G (p.Pro630=)
c.1935A>G (p.Pro645=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746120T>GCA497383810GEMIN4c.1923A>C (p.Pro641=)
c.1890A>C (p.Pro630=)
c.1935A>C (p.Pro645=)
17g.746120T=CA2242474572GEMIN4c.1923A= (p.Pro641=)
c.1890A= (p.Pro630=)
c.1935A= (p.Pro645=)
17g.746121G>ACA397506071GEMIN4c.1922C>T (p.Pro641Leu)
c.1889C>T (p.Pro630Leu)
c.1934C>T (p.Pro645Leu)
17g.746121G>CCA397506072GEMIN4c.1922C>G (p.Pro641Arg)
c.1889C>G (p.Pro630Arg)
c.1934C>G (p.Pro645Arg)
17g.746121G>TCA397506073GEMIN4c.1922C>A (p.Pro641Gln)
c.1889C>A (p.Pro630Gln)
c.1934C>A (p.Pro645Gln)
17g.746122G>ACA397506074GEMIN4c.1921C>T (p.Pro641Ser)
c.1888C>T (p.Pro630Ser)
c.1933C>T (p.Pro645Ser)
 gnomAD v4
17g.746122G>CCA397506075GEMIN4c.1921C>G (p.Pro641Ala)
c.1888C>G (p.Pro630Ala)
c.1933C>G (p.Pro645Ala)
17g.746122G>TCA397506076GEMIN4c.1921C>A (p.Pro641Thr)
c.1888C>A (p.Pro630Thr)
c.1933C>A (p.Pro645Thr)
17g.746123A>CCA397506077GEMIN4c.1920T>G (p.Ile640Met)
c.1887T>G (p.Ile629Met)
c.1932T>G (p.Ile644Met)
17g.746123A>GCA497383814GEMIN4c.1920T>C (p.Ile640=)
c.1887T>C (p.Ile629=)
c.1932T>C (p.Ile644=)
17g.746123A>TCA497383815GEMIN4c.1920T>A (p.Ile640=)
c.1887T>A (p.Ile629=)
c.1932T>A (p.Ile644=)
17g.746124A=CA2242474573GEMIN4c.1919T= (p.Ile640=)
c.1886T= (p.Ile629=)
c.1931T= (p.Ile644=)
17g.746124A>CCA8262521GEMIN4c.1919T>G (p.Ile640Ser)
c.1886T>G (p.Ile629Ser)
c.1931T>G (p.Ile644Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746124A>GCA397506078GEMIN4c.1919T>C (p.Ile640Thr)
c.1886T>C (p.Ile629Thr)
c.1931T>C (p.Ile644Thr)
17g.746124A>TCA397506079GEMIN4c.1919T>A (p.Ile640Asn)
c.1886T>A (p.Ile629Asn)
c.1931T>A (p.Ile644Asn)
17g.746125T>ACA397506081GEMIN4c.1918A>T (p.Ile640Phe)
c.1885A>T (p.Ile629Phe)
c.1930A>T (p.Ile644Phe)
17g.746125T>CCA397506082GEMIN4c.1918A>G (p.Ile640Val)
c.1885A>G (p.Ile629Val)
c.1930A>G (p.Ile644Val)
17g.746125T>GCA397506080GEMIN4c.1918A>C (p.Ile640Leu)
c.1885A>C (p.Ile629Leu)
c.1930A>C (p.Ile644Leu)
17g.746126C>ACA8262522GEMIN4c.1917G>T (p.Gly639=)
c.1884G>T (p.Gly628=)
c.1929G>T (p.Gly643=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746126C=CA2242474574GEMIN4c.1917G= (p.Gly639=)
c.1884G= (p.Gly628=)
c.1929G= (p.Gly643=)
17g.746126C>GCA497383820GEMIN4c.1917G>C (p.Gly639=)
c.1884G>C (p.Gly628=)
c.1929G>C (p.Gly643=)
17g.746126C>TCA497383819GEMIN4c.1917G>A (p.Gly639=)
c.1884G>A (p.Gly628=)
c.1929G>A (p.Gly643=)
17g.746127C>ACA397506083GEMIN4c.1916G>T (p.Gly639Val)
c.1883G>T (p.Gly628Val)
c.1928G>T (p.Gly643Val)
17g.746127C=CA2242474575GEMIN4c.1916G= (p.Gly639=)
c.1883G= (p.Gly628=)
c.1928G= (p.Gly643=)
17g.746127C>GCA397506084GEMIN4c.1916G>C (p.Gly639Ala)
c.1883G>C (p.Gly628Ala)
c.1928G>C (p.Gly643Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.746127C>TCA397506085GEMIN4c.1916G>A (p.Gly639Glu)
c.1883G>A (p.Gly628Glu)
c.1928G>A (p.Gly643Glu)
17g.746128C>ACA397506086GEMIN4c.1915G>T (p.Gly639Trp)
c.1882G>T (p.Gly628Trp)
c.1927G>T (p.Gly643Trp)
 dbSNP gnomAD v2 gnomAD v4
17g.746128C=CA2242474576GEMIN4c.1915G= (p.Gly639=)
c.1882G= (p.Gly628=)
c.1927G= (p.Gly643=)
17g.746128C>GCA397506087GEMIN4c.1915G>C (p.Gly639Arg)
c.1882G>C (p.Gly628Arg)
c.1927G>C (p.Gly643Arg)
17g.746128C>TCA397506088GEMIN4c.1915G>A (p.Gly639Arg)
c.1882G>A (p.Gly628Arg)
c.1927G>A (p.Gly643Arg)
17g.746129T>ACA397506089GEMIN4c.1914A>T (p.Gln638His)
c.1881A>T (p.Gln627His)
c.1926A>T (p.Gln642His)
17g.746129T>CCA497383826GEMIN4c.1914A>G (p.Gln638=)
c.1881A>G (p.Gln627=)
c.1926A>G (p.Gln642=)
 gnomAD v4
17g.746129T>GCA397506090GEMIN4c.1914A>C (p.Gln638His)
c.1881A>C (p.Gln627His)
c.1926A>C (p.Gln642His)
17g.746130T>ACA397506091GEMIN4c.1913A>T (p.Gln638Leu)
c.1880A>T (p.Gln627Leu)
c.1925A>T (p.Gln642Leu)
17g.746130T>CCA397506092GEMIN4c.1913A>G (p.Gln638Arg)
c.1880A>G (p.Gln627Arg)
c.1925A>G (p.Gln642Arg)
17g.746130T>GCA397506093GEMIN4c.1913A>C (p.Gln638Pro)
c.1880A>C (p.Gln627Pro)
c.1925A>C (p.Gln642Pro)
17g.746131G>ACA397506095GEMIN4c.1912C>T (p.Gln638Ter)
c.1879C>T (p.Gln627Ter)
c.1924C>T (p.Gln642Ter)
 ClinVar dbSNP gnomAD v4
17g.746131G>CCA397506096GEMIN4c.1912C>G (p.Gln638Glu)
c.1879C>G (p.Gln627Glu)
c.1924C>G (p.Gln642Glu)
 gnomAD v4
17g.746131G=CA2242474577GEMIN4c.1912C= (p.Gln638=)
c.1879C= (p.Gln627=)
c.1924C= (p.Gln642=)
17g.746131G>TCA397506094GEMIN4c.1912C>A (p.Gln638Lys)
c.1879C>A (p.Gln627Lys)
c.1924C>A (p.Gln642Lys)
17g.746132G>ACA497383831GEMIN4c.1911C>T (p.Pro637=)
c.1878C>T (p.Pro626=)
c.1923C>T (p.Pro641=)
17g.746132G>CCA497383832GEMIN4c.1911C>G (p.Pro637=)
c.1878C>G (p.Pro626=)
c.1923C>G (p.Pro641=)
 gnomAD v4
17g.746132G>TCA497383833GEMIN4c.1911C>A (p.Pro637=)
c.1878C>A (p.Pro626=)
c.1923C>A (p.Pro641=)
17g.746133G>ACA397506097GEMIN4c.1910C>T (p.Pro637Leu)
c.1877C>T (p.Pro626Leu)
c.1922C>T (p.Pro641Leu)
17g.746133G>CCA397506098GEMIN4c.1910C>G (p.Pro637Arg)
c.1877C>G (p.Pro626Arg)
c.1922C>G (p.Pro641Arg)
17g.746133G>TCA397506099GEMIN4c.1910C>A (p.Pro637His)
c.1877C>A (p.Pro626His)
c.1922C>A (p.Pro641His)
17g.746134G>ACA397506100GEMIN4c.1909C>T (p.Pro637Ser)
c.1876C>T (p.Pro626Ser)
c.1921C>T (p.Pro641Ser)
17g.746134G>CCA397506101GEMIN4c.1909C>G (p.Pro637Ala)
c.1876C>G (p.Pro626Ala)
c.1921C>G (p.Pro641Ala)
17g.746134G>TCA397506102GEMIN4c.1909C>A (p.Pro637Thr)
c.1876C>A (p.Pro626Thr)
c.1921C>A (p.Pro641Thr)
17g.746135T>ACA397506103GEMIN4c.1908A>T (p.Lys636Asn)
c.1875A>T (p.Lys625Asn)
c.1920A>T (p.Lys640Asn)
17g.746135T>CCA497383845GEMIN4c.1908A>G (p.Lys636=)
c.1875A>G (p.Lys625=)
c.1920A>G (p.Lys640=)
17g.746135T>GCA397506104GEMIN4c.1908A>C (p.Lys636Asn)
c.1875A>C (p.Lys625Asn)
c.1920A>C (p.Lys640Asn)
17g.746136T>ACA397506105GEMIN4c.1907A>T (p.Lys636Ile)
c.1874A>T (p.Lys625Ile)
c.1919A>T (p.Lys640Ile)
17g.746136T>CCA397506106GEMIN4c.1907A>G (p.Lys636Arg)
c.1874A>G (p.Lys625Arg)
c.1919A>G (p.Lys640Arg)
17g.746136T>GCA397506107GEMIN4c.1907A>C (p.Lys636Thr)
c.1874A>C (p.Lys625Thr)
c.1919A>C (p.Lys640Thr)
17g.746137T>ACA397506108GEMIN4c.1906A>T (p.Lys636Ter)
c.1873A>T (p.Lys625Ter)
c.1918A>T (p.Lys640Ter)
 gnomAD v4
17g.746137T>CCA397506109GEMIN4c.1906A>G (p.Lys636Glu)
c.1873A>G (p.Lys625Glu)
c.1918A>G (p.Lys640Glu)
17g.746137T>GCA397506110GEMIN4c.1906A>C (p.Lys636Gln)
c.1873A>C (p.Lys625Gln)
c.1918A>C (p.Lys640Gln)
17g.746138C>ACA497383848GEMIN4c.1905G>T (p.Val635=)
c.1872G>T (p.Val624=)
c.1917G>T (p.Val639=)
17g.746138C>GCA497383849GEMIN4c.1905G>C (p.Val635=)
c.1872G>C (p.Val624=)
c.1917G>C (p.Val639=)
17g.746138C>TCA497383850GEMIN4c.1905G>A (p.Val635=)
c.1872G>A (p.Val624=)
c.1917G>A (p.Val639=)
17g.746139A=CA2242474578GEMIN4c.1904T= (p.Val635=)
c.1871T= (p.Val624=)
c.1916T= (p.Val639=)
17g.746139A>CCA397506112GEMIN4c.1904T>G (p.Val635Gly)
c.1871T>G (p.Val624Gly)
c.1916T>G (p.Val639Gly)
17g.746139A>GCA8262523GEMIN4c.1904T>C (p.Val635Ala)
c.1871T>C (p.Val624Ala)
c.1916T>C (p.Val639Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746139A>TCA397506111GEMIN4c.1904T>A (p.Val635Glu)
c.1871T>A (p.Val624Glu)
c.1916T>A (p.Val639Glu)
17g.746140C>ACA397506113GEMIN4c.1903G>T (p.Val635Leu)
c.1870G>T (p.Val624Leu)
c.1915G>T (p.Val639Leu)
17g.746140C=CA2242474579GEMIN4c.1903G= (p.Val635=)
c.1870G= (p.Val624=)
c.1915G= (p.Val639=)
17g.746140C>GCA397506114GEMIN4c.1903G>C (p.Val635Leu)
c.1870G>C (p.Val624Leu)
c.1915G>C (p.Val639Leu)
17g.746140C>TCA8262524GEMIN4c.1903G>A (p.Val635Met)
c.1870G>A (p.Val624Met)
c.1915G>A (p.Val639Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746141G>ACA8262525GEMIN4c.1902C>T (p.Pro634=)
c.1869C>T (p.Pro623=)
c.1914C>T (p.Pro638=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746141G>CCA497383858GEMIN4c.1902C>G (p.Pro634=)
c.1869C>G (p.Pro623=)
c.1914C>G (p.Pro638=)
17g.746141G=CA2242474580GEMIN4c.1902C= (p.Pro634=)
c.1869C= (p.Pro623=)
c.1914C= (p.Pro638=)
17g.746141G>TCA497383859GEMIN4c.1902C>A (p.Pro634=)
c.1869C>A (p.Pro623=)
c.1914C>A (p.Pro638=)
17g.746142G>ACA8262527GEMIN4c.1901C>T (p.Pro634Leu)
c.1868C>T (p.Pro623Leu)
c.1913C>T (p.Pro638Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746142G>CCA397506115GEMIN4c.1901C>G (p.Pro634Arg)
c.1868C>G (p.Pro623Arg)
c.1913C>G (p.Pro638Arg)
17g.746142G=CA2242474581GEMIN4c.1901C= (p.Pro634=)
c.1868C= (p.Pro623=)
c.1913C= (p.Pro638=)
17g.746142G>TCA8262526GEMIN4c.1901C>A (p.Pro634His)
c.1868C>A (p.Pro623His)
c.1913C>A (p.Pro638His)
 dbSNP ExAC gnomAD v2
17g.746143G>ACA397506116GEMIN4c.1900C>T (p.Pro634Ser)
c.1867C>T (p.Pro623Ser)
c.1912C>T (p.Pro638Ser)
17g.746143G>CCA397506117GEMIN4c.1900C>G (p.Pro634Ala)
c.1867C>G (p.Pro623Ala)
c.1912C>G (p.Pro638Ala)
 gnomAD v4
17g.746143G>TCA397506118GEMIN4c.1900C>A (p.Pro634Thr)
c.1867C>A (p.Pro623Thr)
c.1912C>A (p.Pro638Thr)
17g.746144A>CCA397506119GEMIN4c.1899T>G (p.Ser633Arg)
c.1866T>G (p.Ser622Arg)
c.1911T>G (p.Ser637Arg)
17g.746144A>GCA497383865GEMIN4c.1899T>C (p.Ser633=)
c.1866T>C (p.Ser622=)
c.1911T>C (p.Ser637=)
17g.746144A>TCA397506120GEMIN4c.1899T>A (p.Ser633Arg)
c.1866T>A (p.Ser622Arg)
c.1911T>A (p.Ser637Arg)
17g.746145C>ACA397506121GEMIN4c.1898G>T (p.Ser633Ile)
c.1865G>T (p.Ser622Ile)
c.1910G>T (p.Ser637Ile)
17g.746145C>GCA397506122GEMIN4c.1898G>C (p.Ser633Thr)
c.1865G>C (p.Ser622Thr)
c.1910G>C (p.Ser637Thr)
17g.746145C>TCA397506123GEMIN4c.1898G>A (p.Ser633Asn)
c.1865G>A (p.Ser622Asn)
c.1910G>A (p.Ser637Asn)
 dbSNP
17g.746146T>ACA397506125GEMIN4c.1897A>T (p.Ser633Cys)
c.1864A>T (p.Ser622Cys)
c.1909A>T (p.Ser637Cys)
17g.746146T>CCA397506126GEMIN4c.1897A>G (p.Ser633Gly)
c.1864A>G (p.Ser622Gly)
c.1909A>G (p.Ser637Gly)
17g.746146T>GCA397506124GEMIN4c.1897A>C (p.Ser633Arg)
c.1864A>C (p.Ser622Arg)
c.1909A>C (p.Ser637Arg)
 dbSNP
17g.746147C>ACA397506127GEMIN4c.1896G>T (p.Met632Ile)
c.1863G>T (p.Met621Ile)
c.1908G>T (p.Met636Ile)
17g.746147C>GCA397506128GEMIN4c.1896G>C (p.Met632Ile)
c.1863G>C (p.Met621Ile)
c.1908G>C (p.Met636Ile)
17g.746147C>TCA397506129GEMIN4c.1896G>A (p.Met632Ile)
c.1863G>A (p.Met621Ile)
c.1908G>A (p.Met636Ile)
17g.746148A>CCA397506130GEMIN4c.1895T>G (p.Met632Arg)
c.1862T>G (p.Met621Arg)
c.1907T>G (p.Met636Arg)
17g.746148A>GCA397506131GEMIN4c.1895T>C (p.Met632Thr)
c.1862T>C (p.Met621Thr)
c.1907T>C (p.Met636Thr)
17g.746148A>TCA397506132GEMIN4c.1895T>A (p.Met632Lys)
c.1862T>A (p.Met621Lys)
c.1907T>A (p.Met636Lys)
 COSMIC COSMIC
17g.746149T>ACA397506133GEMIN4c.1894A>T (p.Met632Leu)
c.1861A>T (p.Met621Leu)
c.1906A>T (p.Met636Leu)
17g.746149T>CCA397506135GEMIN4c.1894A>G (p.Met632Val)
c.1861A>G (p.Met621Val)
c.1906A>G (p.Met636Val)
17g.746149T>GCA397506134GEMIN4c.1894A>C (p.Met632Leu)
c.1861A>C (p.Met621Leu)
c.1906A>C (p.Met636Leu)
17g.746150C>ACA497383877GEMIN4c.1893G>T (p.Leu631=)
c.1860G>T (p.Leu620=)
c.1905G>T (p.Leu635=)
17g.746150C=CA2242474582GEMIN4c.1893G= (p.Leu631=)
c.1860G= (p.Leu620=)
c.1905G= (p.Leu635=)
17g.746150C>GCA497383879GEMIN4c.1893G>C (p.Leu631=)
c.1860G>C (p.Leu620=)
c.1905G>C (p.Leu635=)
 dbSNP gnomAD v4
17g.746150C>TCA497383880GEMIN4c.1893G>A (p.Leu631=)
c.1860G>A (p.Leu620=)
c.1905G>A (p.Leu635=)
17g.746151A>CCA397506136GEMIN4c.1892T>G (p.Leu631Arg)
c.1859T>G (p.Leu620Arg)
c.1904T>G (p.Leu635Arg)
17g.746151A>GCA397506137GEMIN4c.1892T>C (p.Leu631Pro)
c.1859T>C (p.Leu620Pro)
c.1904T>C (p.Leu635Pro)
17g.746151A>TCA397506138GEMIN4c.1892T>A (p.Leu631Gln)
c.1859T>A (p.Leu620Gln)
c.1904T>A (p.Leu635Gln)
17g.746152G>ACA497383883GEMIN4c.1891C>T (p.Leu631=)
c.1858C>T (p.Leu620=)
c.1903C>T (p.Leu635=)
 dbSNP gnomAD v4
17g.746152G>CCA8262528GEMIN4c.1891C>G (p.Leu631Val)
c.1858C>G (p.Leu620Val)
c.1903C>G (p.Leu635Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746152G=CA2242474583GEMIN4c.1891C= (p.Leu631=)
c.1858C= (p.Leu620=)
c.1903C= (p.Leu635=)
17g.746152G>TCA397506139GEMIN4c.1891C>A (p.Leu631Met)
c.1858C>A (p.Leu620Met)
c.1903C>A (p.Leu635Met)
17g.746153G>ACA497383885GEMIN4c.1890C>T (p.Cys630=)
c.1857C>T (p.Cys619=)
c.1902C>T (p.Cys634=)
17g.746153G>CCA397506140GEMIN4c.1890C>G (p.Cys630Trp)
c.1857C>G (p.Cys619Trp)
c.1902C>G (p.Cys634Trp)
17g.746153G=CA2242474584GEMIN4c.1890C= (p.Cys630=)
c.1857C= (p.Cys619=)
c.1902C= (p.Cys634=)
17g.746153G>TCA8262529GEMIN4c.1890C>A (p.Cys630Ter)
c.1857C>A (p.Cys619Ter)
c.1902C>A (p.Cys634Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746154C>ACA397506141GEMIN4c.1889G>T (p.Cys630Phe)
c.1856G>T (p.Cys619Phe)
c.1901G>T (p.Cys634Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.746154C=CA2242474585GEMIN4c.1889G= (p.Cys630=)
c.1856G= (p.Cys619=)
c.1901G= (p.Cys634=)
17g.746154C>GCA397506142GEMIN4c.1889G>C (p.Cys630Ser)
c.1856G>C (p.Cys619Ser)
c.1901G>C (p.Cys634Ser)
17g.746154C>TCA397506143GEMIN4c.1889G>A (p.Cys630Tyr)
c.1856G>A (p.Cys619Tyr)
c.1901G>A (p.Cys634Tyr)
17g.746155A=CA2242474586GEMIN4c.1888T= (p.Cys630=)
c.1855T= (p.Cys619=)
c.1900T= (p.Cys634=)
17g.746155A>CCA397506144GEMIN4c.1888T>G (p.Cys630Gly)
c.1855T>G (p.Cys619Gly)
c.1900T>G (p.Cys634Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.746155A>GCA8262530GEMIN4c.1888T>C (p.Cys630Arg)
c.1855T>C (p.Cys619Arg)
c.1900T>C (p.Cys634Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746155A>TCA397506145GEMIN4c.1888T>A (p.Cys630Ser)
c.1855T>A (p.Cys619Ser)
c.1900T>A (p.Cys634Ser)
17g.746156G>ACA286713676GEMIN4c.1887C>T (p.Asn629=)
c.1854C>T (p.Asn618=)
c.1899C>T (p.Asn633=)
 dbSNP gnomAD v4
17g.746156G>CCA397506147GEMIN4c.1887C>G (p.Asn629Lys)
c.1854C>G (p.Asn618Lys)
c.1899C>G (p.Asn633Lys)
17g.746156G=CA2242474587GEMIN4c.1887C= (p.Asn629=)
c.1854C= (p.Asn618=)
c.1899C= (p.Asn633=)
17g.746156G>TCA397506146GEMIN4c.1887C>A (p.Asn629Lys)
c.1854C>A (p.Asn618Lys)
c.1899C>A (p.Asn633Lys)
17g.746157T>ACA397506148GEMIN4c.1886A>T (p.Asn629Ile)
c.1853A>T (p.Asn618Ile)
c.1898A>T (p.Asn633Ile)
17g.746157T>CCA397506149GEMIN4c.1886A>G (p.Asn629Ser)
c.1853A>G (p.Asn618Ser)
c.1898A>G (p.Asn633Ser)
17g.746157T>GCA397506150GEMIN4c.1886A>C (p.Asn629Thr)
c.1853A>C (p.Asn618Thr)
c.1898A>C (p.Asn633Thr)
17g.746158T>ACA397506151GEMIN4c.1885A>T (p.Asn629Tyr)
c.1852A>T (p.Asn618Tyr)
c.1897A>T (p.Asn633Tyr)
17g.746158T>CCA397506152GEMIN4c.1885A>G (p.Asn629Asp)
c.1852A>G (p.Asn618Asp)
c.1897A>G (p.Asn633Asp)
17g.746158T>GCA397506153GEMIN4c.1885A>C (p.Asn629His)
c.1852A>C (p.Asn618His)
c.1897A>C (p.Asn633His)
17g.746159C>ACA497383896GEMIN4c.1884G>T (p.Leu628=)
c.1851G>T (p.Leu617=)
c.1896G>T (p.Leu632=)
17g.746159C>GCA497383897GEMIN4c.1884G>C (p.Leu628=)
c.1851G>C (p.Leu617=)
c.1896G>C (p.Leu632=)
17g.746159C>TCA497383895GEMIN4c.1884G>A (p.Leu628=)
c.1851G>A (p.Leu617=)
c.1896G>A (p.Leu632=)
17g.746160A=CA2242474588GEMIN4c.1883T= (p.Leu628=)
c.1850T= (p.Leu617=)
c.1895T= (p.Leu632=)
17g.746160A>CCA397506154GEMIN4c.1883T>G (p.Leu628Arg)
c.1850T>G (p.Leu617Arg)
c.1895T>G (p.Leu632Arg)
17g.746160A>GCA8262531GEMIN4c.1883T>C (p.Leu628Pro)
c.1850T>C (p.Leu617Pro)
c.1895T>C (p.Leu632Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746160A>TCA397506155GEMIN4c.1883T>A (p.Leu628Gln)
c.1850T>A (p.Leu617Gln)
c.1895T>A (p.Leu632Gln)
17g.746161G>ACA8262532GEMIN4c.1882C>T (p.Leu628=)
c.1849C>T (p.Leu617=)
c.1894C>T (p.Leu632=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746161G>CCA397506156GEMIN4c.1882C>G (p.Leu628Val)
c.1849C>G (p.Leu617Val)
c.1894C>G (p.Leu632Val)
17g.746161G=CA2242474589GEMIN4c.1882C= (p.Leu628=)
c.1849C= (p.Leu617=)
c.1894C= (p.Leu632=)
17g.746161G>TCA397506157GEMIN4c.1882C>A (p.Leu628Met)
c.1849C>A (p.Leu617Met)
c.1894C>A (p.Leu632Met)
17g.746162G>ACA497383904GEMIN4c.1881C>T (p.Leu627=)
c.1848C>T (p.Leu616=)
c.1893C>T (p.Leu631=)
 dbSNP gnomAD v2 gnomAD v4
17g.746162G>CCA497383900GEMIN4c.1881C>G (p.Leu627=)
c.1848C>G (p.Leu616=)
c.1893C>G (p.Leu631=)
 dbSNP
17g.746162G=CA2242474590GEMIN4c.1881C= (p.Leu627=)
c.1848C= (p.Leu616=)
c.1893C= (p.Leu631=)
17g.746162G>TCA497383898GEMIN4c.1881C>A (p.Leu627=)
c.1848C>A (p.Leu616=)
c.1893C>A (p.Leu631=)
17g.746163A=CA2242474591GEMIN4c.1880T= (p.Leu627=)
c.1847T= (p.Leu616=)
c.1892T= (p.Leu631=)
17g.746163A>CCA397506158GEMIN4c.1880T>G (p.Leu627Arg)
c.1847T>G (p.Leu616Arg)
c.1892T>G (p.Leu631Arg)
17g.746163A>GCA8262533GEMIN4c.1880T>C (p.Leu627Pro)
c.1847T>C (p.Leu616Pro)
c.1892T>C (p.Leu631Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746163A>TCA397506159GEMIN4c.1880T>A (p.Leu627His)
c.1847T>A (p.Leu616His)
c.1892T>A (p.Leu631His)
17g.746164G>ACA397506160GEMIN4c.1879C>T (p.Leu627Phe)
c.1846C>T (p.Leu616Phe)
c.1891C>T (p.Leu631Phe)
 COSMIC COSMIC
17g.746164G>CCA397506161GEMIN4c.1879C>G (p.Leu627Val)
c.1846C>G (p.Leu616Val)
c.1891C>G (p.Leu631Val)
17g.746164G>TCA397506162GEMIN4c.1879C>A (p.Leu627Ile)
c.1846C>A (p.Leu616Ile)
c.1891C>A (p.Leu631Ile)
 gnomAD v4
17g.746165C>ACA397506163GEMIN4c.1878G>T (p.Glu626Asp)
c.1845G>T (p.Glu615Asp)
c.1890G>T (p.Glu630Asp)
17g.746165C=CA2242474592GEMIN4c.1878G= (p.Glu626=)
c.1845G= (p.Glu615=)
c.1890G= (p.Glu630=)
17g.746165C>GCA397506164GEMIN4c.1878G>C (p.Glu626Asp)
c.1845G>C (p.Glu615Asp)
c.1890G>C (p.Glu630Asp)
 gnomAD v4
17g.746165C>TCA497383913GEMIN4c.1878G>A (p.Glu626=)
c.1845G>A (p.Glu615=)
c.1890G>A (p.Glu630=)
 dbSNP gnomAD v4
17g.746166T>ACA397506165GEMIN4c.1877A>T (p.Glu626Val)
c.1844A>T (p.Glu615Val)
c.1889A>T (p.Glu630Val)
17g.746166T>CCA397506167GEMIN4c.1877A>G (p.Glu626Gly)
c.1844A>G (p.Glu615Gly)
c.1889A>G (p.Glu630Gly)
 gnomAD v4
17g.746166T>GCA397506166GEMIN4c.1877A>C (p.Glu626Ala)
c.1844A>C (p.Glu615Ala)
c.1889A>C (p.Glu630Ala)
17g.746167C>ACA397506168GEMIN4c.1876G>T (p.Glu626Ter)
c.1843G>T (p.Glu615Ter)
c.1888G>T (p.Glu630Ter)
17g.746167C>GCA397506170GEMIN4c.1876G>C (p.Glu626Gln)
c.1843G>C (p.Glu615Gln)
c.1888G>C (p.Glu630Gln)
 gnomAD v4
17g.746167C>TCA397506169GEMIN4c.1876G>A (p.Glu626Lys)
c.1843G>A (p.Glu615Lys)
c.1888G>A (p.Glu630Lys)
17g.746168T>ACA397506171GEMIN4c.1875A>T (p.Leu625Phe)
c.1842A>T (p.Leu614Phe)
c.1887A>T (p.Leu629Phe)
17g.746168T>CCA497383916GEMIN4c.1875A>G (p.Leu625=)
c.1842A>G (p.Leu614=)
c.1887A>G (p.Leu629=)
 dbSNP gnomAD v2 gnomAD v4
17g.746168T>GCA397506172GEMIN4c.1875A>C (p.Leu625Phe)
c.1842A>C (p.Leu614Phe)
c.1887A>C (p.Leu629Phe)
 gnomAD v4
17g.746168T=CA2242474593GEMIN4c.1875A= (p.Leu625=)
c.1842A= (p.Leu614=)
c.1887A= (p.Leu629=)
17g.746169A>CCA397506173GEMIN4c.1874T>G (p.Leu625Ter)
c.1841T>G (p.Leu614Ter)
c.1886T>G (p.Leu629Ter)
17g.746169A>GCA397506174GEMIN4c.1874T>C (p.Leu625Ser)
c.1841T>C (p.Leu614Ser)
c.1886T>C (p.Leu629Ser)
17g.746169A>TCA397506175GEMIN4c.1874T>A (p.Leu625Ter)
c.1841T>A (p.Leu614Ter)
c.1886T>A (p.Leu629Ter)
17g.746170A>CCA397506176GEMIN4c.1873T>G (p.Leu625Val)
c.1840T>G (p.Leu614Val)
c.1885T>G (p.Leu629Val)
17g.746170A>GCA497383917GEMIN4c.1873T>C (p.Leu625=)
c.1840T>C (p.Leu614=)
c.1885T>C (p.Leu629=)
17g.746170A>TCA397506177GEMIN4c.1873T>A (p.Leu625Ile)
c.1840T>A (p.Leu614Ile)
c.1885T>A (p.Leu629Ile)
17g.746170_746180delCA2635153317GEMIN4c.1863_1873del (p.Glu621AspfsTer23)
c.1830_1840del (p.Glu610AspfsTer23)
c.1875_1885del (p.Glu625AspfsTer23)
 gnomAD v4
17g.746171A=CA2242474594GEMIN4c.1872T= (p.Phe624=)
c.1839T= (p.Phe613=)
c.1884T= (p.Phe628=)
17g.746171A>CCA397506178GEMIN4c.1872T>G (p.Phe624Leu)
c.1839T>G (p.Phe613Leu)
c.1884T>G (p.Phe628Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.746171A>GCA497383920GEMIN4c.1872T>C (p.Phe624=)
c.1839T>C (p.Phe613=)
c.1884T>C (p.Phe628=)
17g.746171A>TCA397506179GEMIN4c.1872T>A (p.Phe624Leu)
c.1839T>A (p.Phe613Leu)
c.1884T>A (p.Phe628Leu)
17g.746172A>CCA397506180GEMIN4c.1871T>G (p.Phe624Cys)
c.1838T>G (p.Phe613Cys)
c.1883T>G (p.Phe628Cys)
17g.746172A>GCA397506181GEMIN4c.1871T>C (p.Phe624Ser)
c.1838T>C (p.Phe613Ser)
c.1883T>C (p.Phe628Ser)
17g.746172A>TCA397506182GEMIN4c.1871T>A (p.Phe624Tyr)
c.1838T>A (p.Phe613Tyr)
c.1883T>A (p.Phe628Tyr)
17g.746173A=CA2242474595GEMIN4c.1870T= (p.Phe624=)
c.1837T= (p.Phe613=)
c.1882T= (p.Phe628=)
17g.746173A>CCA286713677GEMIN4c.1870T>G (p.Phe624Val)
c.1837T>G (p.Phe613Val)
c.1882T>G (p.Phe628Val)
 dbSNP gnomAD v2 gnomAD v4
17g.746173A>GCA397506184GEMIN4c.1870T>C (p.Phe624Leu)
c.1837T>C (p.Phe613Leu)
c.1882T>C (p.Phe628Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.746173A>TCA397506183GEMIN4c.1870T>A (p.Phe624Ile)
c.1837T>A (p.Phe613Ile)
c.1882T>A (p.Phe628Ile)
17g.746174T>ACA397506185GEMIN4c.1869A>T (p.Gln623His)
c.1836A>T (p.Gln612His)
c.1881A>T (p.Gln627His)
17g.746174T>CCA497383922GEMIN4c.1869A>G (p.Gln623=)
c.1836A>G (p.Gln612=)
c.1881A>G (p.Gln627=)
 dbSNP
17g.746174T>GCA397506186GEMIN4c.1869A>C (p.Gln623His)
c.1836A>C (p.Gln612His)
c.1881A>C (p.Gln627His)
17g.746175T>ACA397506187GEMIN4c.1868A>T (p.Gln623Leu)
c.1835A>T (p.Gln612Leu)
c.1880A>T (p.Gln627Leu)
17g.746175T>CCA397506188GEMIN4c.1868A>G (p.Gln623Arg)
c.1835A>G (p.Gln612Arg)
c.1880A>G (p.Gln627Arg)
17g.746175T>GCA397506189GEMIN4c.1868A>C (p.Gln623Pro)
c.1835A>C (p.Gln612Pro)
c.1880A>C (p.Gln627Pro)
17g.746176G>ACA397506190GEMIN4c.1867C>T (p.Gln623Ter)
c.1834C>T (p.Gln612Ter)
c.1879C>T (p.Gln627Ter)
17g.746176G>CCA397506191GEMIN4c.1867C>G (p.Gln623Glu)
c.1834C>G (p.Gln612Glu)
c.1879C>G (p.Gln627Glu)
17g.746176G>TCA397506192GEMIN4c.1867C>A (p.Gln623Lys)
c.1834C>A (p.Gln612Lys)
c.1879C>A (p.Gln627Lys)
17g.746177C>ACA397506193GEMIN4c.1866G>T (p.Lys622Asn)
c.1833G>T (p.Lys611Asn)
c.1878G>T (p.Lys626Asn)
17g.746177C=CA2242474596GEMIN4c.1866G= (p.Lys622=)
c.1833G= (p.Lys611=)
c.1878G= (p.Lys626=)
17g.746177C>GCA397506194GEMIN4c.1866G>C (p.Lys622Asn)
c.1833G>C (p.Lys611Asn)
c.1878G>C (p.Lys626Asn)
 dbSNP
17g.746177C>TCA497383927GEMIN4c.1866G>A (p.Lys622=)
c.1833G>A (p.Lys611=)
c.1878G>A (p.Lys626=)
17g.746178T>ACA397506196GEMIN4c.1865A>T (p.Lys622Met)
c.1832A>T (p.Lys611Met)
c.1877A>T (p.Lys626Met)
17g.746178T>CCA397506197GEMIN4c.1865A>G (p.Lys622Arg)
c.1832A>G (p.Lys611Arg)
c.1877A>G (p.Lys626Arg)
17g.746178T>GCA397506195GEMIN4c.1865A>C (p.Lys622Thr)
c.1832A>C (p.Lys611Thr)
c.1877A>C (p.Lys626Thr)
17g.746179T>ACA397506198GEMIN4c.1864A>T (p.Lys622Ter)
c.1831A>T (p.Lys611Ter)
c.1876A>T (p.Lys626Ter)
17g.746179T>CCA397506199GEMIN4c.1864A>G (p.Lys622Glu)
c.1831A>G (p.Lys611Glu)
c.1876A>G (p.Lys626Glu)
17g.746179T>GCA397506200GEMIN4c.1864A>C (p.Lys622Gln)
c.1831A>C (p.Lys611Gln)
c.1876A>C (p.Lys626Gln)
17g.746180T>ACA397506201GEMIN4c.1863A>T (p.Glu621Asp)
c.1830A>T (p.Glu610Asp)
c.1875A>T (p.Glu625Asp)
17g.746180T>CCA497383934GEMIN4c.1863A>G (p.Glu621=)
c.1830A>G (p.Glu610=)
c.1875A>G (p.Glu625=)
17g.746180T>GCA397506202GEMIN4c.1863A>C (p.Glu621Asp)
c.1830A>C (p.Glu610Asp)
c.1875A>C (p.Glu625Asp)
17g.746181T>ACA397506203GEMIN4c.1862A>T (p.Glu621Val)
c.1829A>T (p.Glu610Val)
c.1874A>T (p.Glu625Val)
17g.746181T>CCA286713678GEMIN4c.1862A>G (p.Glu621Gly)
c.1829A>G (p.Glu610Gly)
c.1874A>G (p.Glu625Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746181T>GCA8262534GEMIN4c.1862A>C (p.Glu621Ala)
c.1829A>C (p.Glu610Ala)
c.1874A>C (p.Glu625Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746181T=CA2242474597GEMIN4c.1862A= (p.Glu621=)
c.1829A= (p.Glu610=)
c.1874A= (p.Glu625=)
17g.746182C>ACA397506204GEMIN4c.1861G>T (p.Glu621Ter)
c.1828G>T (p.Glu610Ter)
c.1873G>T (p.Glu625Ter)
 gnomAD v4
17g.746182C>GCA397506205GEMIN4c.1861G>C (p.Glu621Gln)
c.1828G>C (p.Glu610Gln)
c.1873G>C (p.Glu625Gln)
17g.746182C>TCA397506206GEMIN4c.1861G>A (p.Glu621Lys)
c.1828G>A (p.Glu610Lys)
c.1873G>A (p.Glu625Lys)
17g.746183T>ACA397506207GEMIN4c.1860A>T (p.Glu620Asp)
c.1827A>T (p.Glu609Asp)
c.1872A>T (p.Glu624Asp)
17g.746183T>CCA497383935GEMIN4c.1860A>G (p.Glu620=)
c.1827A>G (p.Glu609=)
c.1872A>G (p.Glu624=)
 dbSNP gnomAD v4
17g.746183T>GCA397506208GEMIN4c.1860A>C (p.Glu620Asp)
c.1827A>C (p.Glu609Asp)
c.1872A>C (p.Glu624Asp)
17g.746184delCA2635153320GEMIN4c.1860del (p.Glu621LysfsTer5)
c.1827del (p.Glu610LysfsTer5)
c.1872del (p.Glu625LysfsTer5)
 gnomAD v4
17g.746184T>ACA397506211GEMIN4c.1859A>T (p.Glu620Val)
c.1826A>T (p.Glu609Val)
c.1871A>T (p.Glu624Val)
17g.746184T>CCA397506210GEMIN4c.1859A>G (p.Glu620Gly)
c.1826A>G (p.Glu609Gly)
c.1871A>G (p.Glu624Gly)
17g.746184T>GCA397506209GEMIN4c.1859A>C (p.Glu620Ala)
c.1826A>C (p.Glu609Ala)
c.1871A>C (p.Glu624Ala)
17g.746185C>ACA397506212GEMIN4c.1858G>T (p.Glu620Ter)
c.1825G>T (p.Glu609Ter)
c.1870G>T (p.Glu624Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.746185C=CA2242474598GEMIN4c.1858G= (p.Glu620=)
c.1825G= (p.Glu609=)
c.1870G= (p.Glu624=)
17g.746185C>GCA397506213GEMIN4c.1858G>C (p.Glu620Gln)
c.1825G>C (p.Glu609Gln)
c.1870G>C (p.Glu624Gln)
17g.746185C>TCA397506214GEMIN4c.1858G>A (p.Glu620Lys)
c.1825G>A (p.Glu609Lys)
c.1870G>A (p.Glu624Lys)
17g.746186C>ACA397506215GEMIN4c.1857G>T (p.Lys619Asn)
c.1824G>T (p.Lys608Asn)
c.1869G>T (p.Lys623Asn)
17g.746186C=CA2242474599GEMIN4c.1857G= (p.Lys619=)
c.1824G= (p.Lys608=)
c.1869G= (p.Lys623=)
17g.746186C>GCA397506216GEMIN4c.1857G>C (p.Lys619Asn)
c.1824G>C (p.Lys608Asn)
c.1869G>C (p.Lys623Asn)
17g.746186C>TCA8262535GEMIN4c.1857G>A (p.Lys619=)
c.1824G>A (p.Lys608=)
c.1869G>A (p.Lys623=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746187T>ACA397506217GEMIN4c.1856A>T (p.Lys619Met)
c.1823A>T (p.Lys608Met)
c.1868A>T (p.Lys623Met)
17g.746187T>CCA397506218GEMIN4c.1856A>G (p.Lys619Arg)
c.1823A>G (p.Lys608Arg)
c.1868A>G (p.Lys623Arg)
17g.746187T>GCA397506219GEMIN4c.1856A>C (p.Lys619Thr)
c.1823A>C (p.Lys608Thr)
c.1868A>C (p.Lys623Thr)
17g.746188T>ACA397506220GEMIN4c.1855A>T (p.Lys619Ter)
c.1822A>T (p.Lys608Ter)
c.1867A>T (p.Lys623Ter)
17g.746188T>CCA397506221GEMIN4c.1855A>G (p.Lys619Glu)
c.1822A>G (p.Lys608Glu)
c.1867A>G (p.Lys623Glu)
 gnomAD v4
17g.746188T>GCA397506222GEMIN4c.1855A>C (p.Lys619Gln)
c.1822A>C (p.Lys608Gln)
c.1867A>C (p.Lys623Gln)
17g.746188_746197delCA2635153321GEMIN4c.1846_1855del (p.Ser616ArgfsTer7)
c.1813_1822del (p.Ser605ArgfsTer7)
c.1858_1867del (p.Ser620ArgfsTer7)
 gnomAD v4
17g.746189G>ACA497383945GEMIN4c.1854C>T (p.Pro618=)
c.1821C>T (p.Pro607=)
c.1866C>T (p.Pro622=)
 gnomAD v4
17g.746189G>CCA497383946GEMIN4c.1854C>G (p.Pro618=)
c.1821C>G (p.Pro607=)
c.1866C>G (p.Pro622=)
17g.746189G>TCA497383949GEMIN4c.1854C>A (p.Pro618=)
c.1821C>A (p.Pro607=)
c.1866C>A (p.Pro622=)
 COSMIC COSMIC
17g.746191delCA2576107244GEMIN4c.1854del (p.Lys619ArgfsTer7)
c.1821del (p.Lys608ArgfsTer7)
c.1866del (p.Lys623ArgfsTer7)
17g.746190G>ACA397506223GEMIN4c.1853C>T (p.Pro618Leu)
c.1820C>T (p.Pro607Leu)
c.1865C>T (p.Pro622Leu)
17g.746190G>CCA397506225GEMIN4c.1853C>G (p.Pro618Arg)
c.1820C>G (p.Pro607Arg)
c.1865C>G (p.Pro622Arg)
17g.746190G>TCA397506224GEMIN4c.1853C>A (p.Pro618His)
c.1820C>A (p.Pro607His)
c.1865C>A (p.Pro622His)
17g.746191G>ACA286713679GEMIN4c.1852C>T (p.Pro618Ser)
c.1819C>T (p.Pro607Ser)
c.1864C>T (p.Pro622Ser)
 ClinVar dbSNP gnomAD v4
17g.746191G>CCA397506227GEMIN4c.1852C>G (p.Pro618Ala)
c.1819C>G (p.Pro607Ala)
c.1864C>G (p.Pro622Ala)
17g.746191G=CA2242474600GEMIN4c.1852C= (p.Pro618=)
c.1819C= (p.Pro607=)
c.1864C= (p.Pro622=)
17g.746191G>TCA397506226GEMIN4c.1852C>A (p.Pro618Thr)
c.1819C>A (p.Pro607Thr)
c.1864C>A (p.Pro622Thr)
17g.746192T>ACA497383953GEMIN4c.1851A>T (p.Thr617=)
c.1818A>T (p.Thr606=)
c.1863A>T (p.Thr621=)
17g.746192T>CCA497383955GEMIN4c.1851A>G (p.Thr617=)
c.1818A>G (p.Thr606=)
c.1863A>G (p.Thr621=)
17g.746192T>GCA497383956GEMIN4c.1851A>C (p.Thr617=)
c.1818A>C (p.Thr606=)
c.1863A>C (p.Thr621=)
17g.746193G>ACA8262536GEMIN4c.1850C>T (p.Thr617Ile)
c.1817C>T (p.Thr606Ile)
c.1862C>T (p.Thr621Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746193G>CCA397506229GEMIN4c.1850C>G (p.Thr617Arg)
c.1817C>G (p.Thr606Arg)
c.1862C>G (p.Thr621Arg)
17g.746193G=CA2242474601GEMIN4c.1850C= (p.Thr617=)
c.1817C= (p.Thr606=)
c.1862C= (p.Thr621=)
17g.746193G>TCA397506228GEMIN4c.1850C>A (p.Thr617Lys)
c.1817C>A (p.Thr606Lys)
c.1862C>A (p.Thr621Lys)
17g.746194T>ACA397506230GEMIN4c.1849A>T (p.Thr617Ser)
c.1816A>T (p.Thr606Ser)
c.1861A>T (p.Thr621Ser)
17g.746194T>CCA397506231GEMIN4c.1849A>G (p.Thr617Ala)
c.1816A>G (p.Thr606Ala)
c.1861A>G (p.Thr621Ala)
 dbSNP gnomAD v4
17g.746194T>GCA397506232GEMIN4c.1849A>C (p.Thr617Pro)
c.1816A>C (p.Thr606Pro)
c.1861A>C (p.Thr621Pro)
 gnomAD v4
17g.746194T=CA2242474602GEMIN4c.1849A= (p.Thr617=)
c.1816A= (p.Thr606=)
c.1861A= (p.Thr621=)
17g.746195A>CCA497383960GEMIN4c.1848T>G (p.Ser616=)
c.1815T>G (p.Ser605=)
c.1860T>G (p.Ser620=)
17g.746195A>GCA497383963GEMIN4c.1848T>C (p.Ser616=)
c.1815T>C (p.Ser605=)
c.1860T>C (p.Ser620=)
 gnomAD v4
17g.746195A>TCA497383965GEMIN4c.1848T>A (p.Ser616=)
c.1815T>A (p.Ser605=)
c.1860T>A (p.Ser620=)
17g.746196G>ACA397506233GEMIN4c.1847C>T (p.Ser616Phe)
c.1814C>T (p.Ser605Phe)
c.1859C>T (p.Ser620Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746196G>CCA397506234GEMIN4c.1847C>G (p.Ser616Cys)
c.1814C>G (p.Ser605Cys)
c.1859C>G (p.Ser620Cys)
 gnomAD v4
17g.746196G=CA2242474603GEMIN4c.1847C= (p.Ser616=)
c.1814C= (p.Ser605=)
c.1859C= (p.Ser620=)
17g.746196G>TCA397506235GEMIN4c.1847C>A (p.Ser616Tyr)
c.1814C>A (p.Ser605Tyr)
c.1859C>A (p.Ser620Tyr)
17g.746197A>CCA397506236GEMIN4c.1846T>G (p.Ser616Ala)
c.1813T>G (p.Ser605Ala)
c.1858T>G (p.Ser620Ala)
17g.746197A>GCA397506237GEMIN4c.1846T>C (p.Ser616Pro)
c.1813T>C (p.Ser605Pro)
c.1858T>C (p.Ser620Pro)
17g.746197A>TCA397506238GEMIN4c.1846T>A (p.Ser616Thr)
c.1813T>A (p.Ser605Thr)
c.1858T>A (p.Ser620Thr)
17g.746198G>ACA497383969GEMIN4c.1845C>T (p.Phe615=)
c.1812C>T (p.Phe604=)
c.1857C>T (p.Phe619=)
17g.746198G>CCA397506239GEMIN4c.1845C>G (p.Phe615Leu)
c.1812C>G (p.Phe604Leu)
c.1857C>G (p.Phe619Leu)
17g.746198G>TCA397506240GEMIN4c.1845C>A (p.Phe615Leu)
c.1812C>A (p.Phe604Leu)
c.1857C>A (p.Phe619Leu)
17g.746199A>CCA397506243GEMIN4c.1844T>G (p.Phe615Cys)
c.1811T>G (p.Phe604Cys)
c.1856T>G (p.Phe619Cys)
17g.746199A>GCA397506242GEMIN4c.1844T>C (p.Phe615Ser)
c.1811T>C (p.Phe604Ser)
c.1856T>C (p.Phe619Ser)
 gnomAD v4
17g.746199A>TCA397506241GEMIN4c.1844T>A (p.Phe615Tyr)
c.1811T>A (p.Phe604Tyr)
c.1856T>A (p.Phe619Tyr)

Number of alleles fetched