Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.746116C>A | CA397506062 | GEMIN4 | c.1927G>T (p.Ala643Ser) c.1894G>T (p.Ala632Ser) c.1939G>T (p.Ala647Ser) | |
17 | g.746116C>G | CA397506063 | GEMIN4 | c.1927G>C (p.Ala643Pro) c.1894G>C (p.Ala632Pro) c.1939G>C (p.Ala647Pro) | |
17 | g.746116C>T | CA397506064 | GEMIN4 | c.1927G>A (p.Ala643Thr) c.1894G>A (p.Ala632Thr) c.1939G>A (p.Ala647Thr) | gnomAD v4 |
17 | g.746117C>A | CA497383802 | GEMIN4 | c.1926G>T (p.Val642=) c.1893G>T (p.Val631=) c.1938G>T (p.Val646=) | |
17 | g.746117C>G | CA497383803 | GEMIN4 | c.1926G>C (p.Val642=) c.1893G>C (p.Val631=) c.1938G>C (p.Val646=) | gnomAD v4 |
17 | g.746117C>T | CA497383804 | GEMIN4 | c.1926G>A (p.Val642=) c.1893G>A (p.Val631=) c.1938G>A (p.Val646=) | COSMIC COSMIC |
17 | g.746118A= | CA2242474571 | GEMIN4 | c.1925T= (p.Val642=) c.1892T= (p.Val631=) c.1937T= (p.Val646=) | |
17 | g.746118A>C | CA397506065 | GEMIN4 | c.1925T>G (p.Val642Gly) c.1892T>G (p.Val631Gly) c.1937T>G (p.Val646Gly) | |
17 | g.746118A>G | CA397506066 | GEMIN4 | c.1925T>C (p.Val642Ala) c.1892T>C (p.Val631Ala) c.1937T>C (p.Val646Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746118A>T | CA397506067 | GEMIN4 | c.1925T>A (p.Val642Glu) c.1892T>A (p.Val631Glu) c.1937T>A (p.Val646Glu) | |
17 | g.746119C>A | CA397506068 | GEMIN4 | c.1924G>T (p.Val642Leu) c.1891G>T (p.Val631Leu) c.1936G>T (p.Val646Leu) | |
17 | g.746119C>G | CA397506070 | GEMIN4 | c.1924G>C (p.Val642Leu) c.1891G>C (p.Val631Leu) c.1936G>C (p.Val646Leu) | |
17 | g.746119C>T | CA397506069 | GEMIN4 | c.1924G>A (p.Val642Met) c.1891G>A (p.Val631Met) c.1936G>A (p.Val646Met) | gnomAD v4 |
17 | g.746120T>A | CA497383808 | GEMIN4 | c.1923A>T (p.Pro641=) c.1890A>T (p.Pro630=) c.1935A>T (p.Pro645=) | |
17 | g.746120T>C | CA497383809 | GEMIN4 | c.1923A>G (p.Pro641=) c.1890A>G (p.Pro630=) c.1935A>G (p.Pro645=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746120T>G | CA497383810 | GEMIN4 | c.1923A>C (p.Pro641=) c.1890A>C (p.Pro630=) c.1935A>C (p.Pro645=) | |
17 | g.746120T= | CA2242474572 | GEMIN4 | c.1923A= (p.Pro641=) c.1890A= (p.Pro630=) c.1935A= (p.Pro645=) | |
17 | g.746121G>A | CA397506071 | GEMIN4 | c.1922C>T (p.Pro641Leu) c.1889C>T (p.Pro630Leu) c.1934C>T (p.Pro645Leu) | |
17 | g.746121G>C | CA397506072 | GEMIN4 | c.1922C>G (p.Pro641Arg) c.1889C>G (p.Pro630Arg) c.1934C>G (p.Pro645Arg) | |
17 | g.746121G>T | CA397506073 | GEMIN4 | c.1922C>A (p.Pro641Gln) c.1889C>A (p.Pro630Gln) c.1934C>A (p.Pro645Gln) | |
17 | g.746122G>A | CA397506074 | GEMIN4 | c.1921C>T (p.Pro641Ser) c.1888C>T (p.Pro630Ser) c.1933C>T (p.Pro645Ser) | gnomAD v4 |
17 | g.746122G>C | CA397506075 | GEMIN4 | c.1921C>G (p.Pro641Ala) c.1888C>G (p.Pro630Ala) c.1933C>G (p.Pro645Ala) | |
17 | g.746122G>T | CA397506076 | GEMIN4 | c.1921C>A (p.Pro641Thr) c.1888C>A (p.Pro630Thr) c.1933C>A (p.Pro645Thr) | |
17 | g.746123A>C | CA397506077 | GEMIN4 | c.1920T>G (p.Ile640Met) c.1887T>G (p.Ile629Met) c.1932T>G (p.Ile644Met) | |
17 | g.746123A>G | CA497383814 | GEMIN4 | c.1920T>C (p.Ile640=) c.1887T>C (p.Ile629=) c.1932T>C (p.Ile644=) | |
17 | g.746123A>T | CA497383815 | GEMIN4 | c.1920T>A (p.Ile640=) c.1887T>A (p.Ile629=) c.1932T>A (p.Ile644=) | |
17 | g.746124A= | CA2242474573 | GEMIN4 | c.1919T= (p.Ile640=) c.1886T= (p.Ile629=) c.1931T= (p.Ile644=) | |
17 | g.746124A>C | CA8262521 | GEMIN4 | c.1919T>G (p.Ile640Ser) c.1886T>G (p.Ile629Ser) c.1931T>G (p.Ile644Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746124A>G | CA397506078 | GEMIN4 | c.1919T>C (p.Ile640Thr) c.1886T>C (p.Ile629Thr) c.1931T>C (p.Ile644Thr) | |
17 | g.746124A>T | CA397506079 | GEMIN4 | c.1919T>A (p.Ile640Asn) c.1886T>A (p.Ile629Asn) c.1931T>A (p.Ile644Asn) | |
17 | g.746125T>A | CA397506081 | GEMIN4 | c.1918A>T (p.Ile640Phe) c.1885A>T (p.Ile629Phe) c.1930A>T (p.Ile644Phe) | |
17 | g.746125T>C | CA397506082 | GEMIN4 | c.1918A>G (p.Ile640Val) c.1885A>G (p.Ile629Val) c.1930A>G (p.Ile644Val) | |
17 | g.746125T>G | CA397506080 | GEMIN4 | c.1918A>C (p.Ile640Leu) c.1885A>C (p.Ile629Leu) c.1930A>C (p.Ile644Leu) | |
17 | g.746126C>A | CA8262522 | GEMIN4 | c.1917G>T (p.Gly639=) c.1884G>T (p.Gly628=) c.1929G>T (p.Gly643=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746126C= | CA2242474574 | GEMIN4 | c.1917G= (p.Gly639=) c.1884G= (p.Gly628=) c.1929G= (p.Gly643=) | |
17 | g.746126C>G | CA497383820 | GEMIN4 | c.1917G>C (p.Gly639=) c.1884G>C (p.Gly628=) c.1929G>C (p.Gly643=) | |
17 | g.746126C>T | CA497383819 | GEMIN4 | c.1917G>A (p.Gly639=) c.1884G>A (p.Gly628=) c.1929G>A (p.Gly643=) | |
17 | g.746127C>A | CA397506083 | GEMIN4 | c.1916G>T (p.Gly639Val) c.1883G>T (p.Gly628Val) c.1928G>T (p.Gly643Val) | |
17 | g.746127C= | CA2242474575 | GEMIN4 | c.1916G= (p.Gly639=) c.1883G= (p.Gly628=) c.1928G= (p.Gly643=) | |
17 | g.746127C>G | CA397506084 | GEMIN4 | c.1916G>C (p.Gly639Ala) c.1883G>C (p.Gly628Ala) c.1928G>C (p.Gly643Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746127C>T | CA397506085 | GEMIN4 | c.1916G>A (p.Gly639Glu) c.1883G>A (p.Gly628Glu) c.1928G>A (p.Gly643Glu) | |
17 | g.746128C>A | CA397506086 | GEMIN4 | c.1915G>T (p.Gly639Trp) c.1882G>T (p.Gly628Trp) c.1927G>T (p.Gly643Trp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746128C= | CA2242474576 | GEMIN4 | c.1915G= (p.Gly639=) c.1882G= (p.Gly628=) c.1927G= (p.Gly643=) | |
17 | g.746128C>G | CA397506087 | GEMIN4 | c.1915G>C (p.Gly639Arg) c.1882G>C (p.Gly628Arg) c.1927G>C (p.Gly643Arg) | |
17 | g.746128C>T | CA397506088 | GEMIN4 | c.1915G>A (p.Gly639Arg) c.1882G>A (p.Gly628Arg) c.1927G>A (p.Gly643Arg) | |
17 | g.746129T>A | CA397506089 | GEMIN4 | c.1914A>T (p.Gln638His) c.1881A>T (p.Gln627His) c.1926A>T (p.Gln642His) | |
17 | g.746129T>C | CA497383826 | GEMIN4 | c.1914A>G (p.Gln638=) c.1881A>G (p.Gln627=) c.1926A>G (p.Gln642=) | gnomAD v4 |
17 | g.746129T>G | CA397506090 | GEMIN4 | c.1914A>C (p.Gln638His) c.1881A>C (p.Gln627His) c.1926A>C (p.Gln642His) | |
17 | g.746130T>A | CA397506091 | GEMIN4 | c.1913A>T (p.Gln638Leu) c.1880A>T (p.Gln627Leu) c.1925A>T (p.Gln642Leu) | |
17 | g.746130T>C | CA397506092 | GEMIN4 | c.1913A>G (p.Gln638Arg) c.1880A>G (p.Gln627Arg) c.1925A>G (p.Gln642Arg) | |
17 | g.746130T>G | CA397506093 | GEMIN4 | c.1913A>C (p.Gln638Pro) c.1880A>C (p.Gln627Pro) c.1925A>C (p.Gln642Pro) | |
17 | g.746131G>A | CA397506095 | GEMIN4 | c.1912C>T (p.Gln638Ter) c.1879C>T (p.Gln627Ter) c.1924C>T (p.Gln642Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.746131G>C | CA397506096 | GEMIN4 | c.1912C>G (p.Gln638Glu) c.1879C>G (p.Gln627Glu) c.1924C>G (p.Gln642Glu) | gnomAD v4 |
17 | g.746131G= | CA2242474577 | GEMIN4 | c.1912C= (p.Gln638=) c.1879C= (p.Gln627=) c.1924C= (p.Gln642=) | |
17 | g.746131G>T | CA397506094 | GEMIN4 | c.1912C>A (p.Gln638Lys) c.1879C>A (p.Gln627Lys) c.1924C>A (p.Gln642Lys) | |
17 | g.746132G>A | CA497383831 | GEMIN4 | c.1911C>T (p.Pro637=) c.1878C>T (p.Pro626=) c.1923C>T (p.Pro641=) | |
17 | g.746132G>C | CA497383832 | GEMIN4 | c.1911C>G (p.Pro637=) c.1878C>G (p.Pro626=) c.1923C>G (p.Pro641=) | gnomAD v4 |
17 | g.746132G>T | CA497383833 | GEMIN4 | c.1911C>A (p.Pro637=) c.1878C>A (p.Pro626=) c.1923C>A (p.Pro641=) | |
17 | g.746133G>A | CA397506097 | GEMIN4 | c.1910C>T (p.Pro637Leu) c.1877C>T (p.Pro626Leu) c.1922C>T (p.Pro641Leu) | |
17 | g.746133G>C | CA397506098 | GEMIN4 | c.1910C>G (p.Pro637Arg) c.1877C>G (p.Pro626Arg) c.1922C>G (p.Pro641Arg) | |
17 | g.746133G>T | CA397506099 | GEMIN4 | c.1910C>A (p.Pro637His) c.1877C>A (p.Pro626His) c.1922C>A (p.Pro641His) | |
17 | g.746134G>A | CA397506100 | GEMIN4 | c.1909C>T (p.Pro637Ser) c.1876C>T (p.Pro626Ser) c.1921C>T (p.Pro641Ser) | |
17 | g.746134G>C | CA397506101 | GEMIN4 | c.1909C>G (p.Pro637Ala) c.1876C>G (p.Pro626Ala) c.1921C>G (p.Pro641Ala) | |
17 | g.746134G>T | CA397506102 | GEMIN4 | c.1909C>A (p.Pro637Thr) c.1876C>A (p.Pro626Thr) c.1921C>A (p.Pro641Thr) | |
17 | g.746135T>A | CA397506103 | GEMIN4 | c.1908A>T (p.Lys636Asn) c.1875A>T (p.Lys625Asn) c.1920A>T (p.Lys640Asn) | |
17 | g.746135T>C | CA497383845 | GEMIN4 | c.1908A>G (p.Lys636=) c.1875A>G (p.Lys625=) c.1920A>G (p.Lys640=) | |
17 | g.746135T>G | CA397506104 | GEMIN4 | c.1908A>C (p.Lys636Asn) c.1875A>C (p.Lys625Asn) c.1920A>C (p.Lys640Asn) | |
17 | g.746136T>A | CA397506105 | GEMIN4 | c.1907A>T (p.Lys636Ile) c.1874A>T (p.Lys625Ile) c.1919A>T (p.Lys640Ile) | |
17 | g.746136T>C | CA397506106 | GEMIN4 | c.1907A>G (p.Lys636Arg) c.1874A>G (p.Lys625Arg) c.1919A>G (p.Lys640Arg) | |
17 | g.746136T>G | CA397506107 | GEMIN4 | c.1907A>C (p.Lys636Thr) c.1874A>C (p.Lys625Thr) c.1919A>C (p.Lys640Thr) | |
17 | g.746137T>A | CA397506108 | GEMIN4 | c.1906A>T (p.Lys636Ter) c.1873A>T (p.Lys625Ter) c.1918A>T (p.Lys640Ter) | gnomAD v4 |
17 | g.746137T>C | CA397506109 | GEMIN4 | c.1906A>G (p.Lys636Glu) c.1873A>G (p.Lys625Glu) c.1918A>G (p.Lys640Glu) | |
17 | g.746137T>G | CA397506110 | GEMIN4 | c.1906A>C (p.Lys636Gln) c.1873A>C (p.Lys625Gln) c.1918A>C (p.Lys640Gln) | |
17 | g.746138C>A | CA497383848 | GEMIN4 | c.1905G>T (p.Val635=) c.1872G>T (p.Val624=) c.1917G>T (p.Val639=) | |
17 | g.746138C>G | CA497383849 | GEMIN4 | c.1905G>C (p.Val635=) c.1872G>C (p.Val624=) c.1917G>C (p.Val639=) | |
17 | g.746138C>T | CA497383850 | GEMIN4 | c.1905G>A (p.Val635=) c.1872G>A (p.Val624=) c.1917G>A (p.Val639=) | |
17 | g.746139A= | CA2242474578 | GEMIN4 | c.1904T= (p.Val635=) c.1871T= (p.Val624=) c.1916T= (p.Val639=) | |
17 | g.746139A>C | CA397506112 | GEMIN4 | c.1904T>G (p.Val635Gly) c.1871T>G (p.Val624Gly) c.1916T>G (p.Val639Gly) | |
17 | g.746139A>G | CA8262523 | GEMIN4 | c.1904T>C (p.Val635Ala) c.1871T>C (p.Val624Ala) c.1916T>C (p.Val639Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746139A>T | CA397506111 | GEMIN4 | c.1904T>A (p.Val635Glu) c.1871T>A (p.Val624Glu) c.1916T>A (p.Val639Glu) | |
17 | g.746140C>A | CA397506113 | GEMIN4 | c.1903G>T (p.Val635Leu) c.1870G>T (p.Val624Leu) c.1915G>T (p.Val639Leu) | |
17 | g.746140C= | CA2242474579 | GEMIN4 | c.1903G= (p.Val635=) c.1870G= (p.Val624=) c.1915G= (p.Val639=) | |
17 | g.746140C>G | CA397506114 | GEMIN4 | c.1903G>C (p.Val635Leu) c.1870G>C (p.Val624Leu) c.1915G>C (p.Val639Leu) | |
17 | g.746140C>T | CA8262524 | GEMIN4 | c.1903G>A (p.Val635Met) c.1870G>A (p.Val624Met) c.1915G>A (p.Val639Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746141G>A | CA8262525 | GEMIN4 | c.1902C>T (p.Pro634=) c.1869C>T (p.Pro623=) c.1914C>T (p.Pro638=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746141G>C | CA497383858 | GEMIN4 | c.1902C>G (p.Pro634=) c.1869C>G (p.Pro623=) c.1914C>G (p.Pro638=) | |
17 | g.746141G= | CA2242474580 | GEMIN4 | c.1902C= (p.Pro634=) c.1869C= (p.Pro623=) c.1914C= (p.Pro638=) | |
17 | g.746141G>T | CA497383859 | GEMIN4 | c.1902C>A (p.Pro634=) c.1869C>A (p.Pro623=) c.1914C>A (p.Pro638=) | |
17 | g.746142G>A | CA8262527 | GEMIN4 | c.1901C>T (p.Pro634Leu) c.1868C>T (p.Pro623Leu) c.1913C>T (p.Pro638Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746142G>C | CA397506115 | GEMIN4 | c.1901C>G (p.Pro634Arg) c.1868C>G (p.Pro623Arg) c.1913C>G (p.Pro638Arg) | |
17 | g.746142G= | CA2242474581 | GEMIN4 | c.1901C= (p.Pro634=) c.1868C= (p.Pro623=) c.1913C= (p.Pro638=) | |
17 | g.746142G>T | CA8262526 | GEMIN4 | c.1901C>A (p.Pro634His) c.1868C>A (p.Pro623His) c.1913C>A (p.Pro638His) | dbSNP ExAC gnomAD v2 |
17 | g.746143G>A | CA397506116 | GEMIN4 | c.1900C>T (p.Pro634Ser) c.1867C>T (p.Pro623Ser) c.1912C>T (p.Pro638Ser) | |
17 | g.746143G>C | CA397506117 | GEMIN4 | c.1900C>G (p.Pro634Ala) c.1867C>G (p.Pro623Ala) c.1912C>G (p.Pro638Ala) | gnomAD v4 |
17 | g.746143G>T | CA397506118 | GEMIN4 | c.1900C>A (p.Pro634Thr) c.1867C>A (p.Pro623Thr) c.1912C>A (p.Pro638Thr) | |
17 | g.746144A>C | CA397506119 | GEMIN4 | c.1899T>G (p.Ser633Arg) c.1866T>G (p.Ser622Arg) c.1911T>G (p.Ser637Arg) | |
17 | g.746144A>G | CA497383865 | GEMIN4 | c.1899T>C (p.Ser633=) c.1866T>C (p.Ser622=) c.1911T>C (p.Ser637=) | |
17 | g.746144A>T | CA397506120 | GEMIN4 | c.1899T>A (p.Ser633Arg) c.1866T>A (p.Ser622Arg) c.1911T>A (p.Ser637Arg) | |
17 | g.746145C>A | CA397506121 | GEMIN4 | c.1898G>T (p.Ser633Ile) c.1865G>T (p.Ser622Ile) c.1910G>T (p.Ser637Ile) | |
17 | g.746145C>G | CA397506122 | GEMIN4 | c.1898G>C (p.Ser633Thr) c.1865G>C (p.Ser622Thr) c.1910G>C (p.Ser637Thr) | |
17 | g.746145C>T | CA397506123 | GEMIN4 | c.1898G>A (p.Ser633Asn) c.1865G>A (p.Ser622Asn) c.1910G>A (p.Ser637Asn) | dbSNP |
17 | g.746146T>A | CA397506125 | GEMIN4 | c.1897A>T (p.Ser633Cys) c.1864A>T (p.Ser622Cys) c.1909A>T (p.Ser637Cys) | |
17 | g.746146T>C | CA397506126 | GEMIN4 | c.1897A>G (p.Ser633Gly) c.1864A>G (p.Ser622Gly) c.1909A>G (p.Ser637Gly) | |
17 | g.746146T>G | CA397506124 | GEMIN4 | c.1897A>C (p.Ser633Arg) c.1864A>C (p.Ser622Arg) c.1909A>C (p.Ser637Arg) | dbSNP |
17 | g.746147C>A | CA397506127 | GEMIN4 | c.1896G>T (p.Met632Ile) c.1863G>T (p.Met621Ile) c.1908G>T (p.Met636Ile) | |
17 | g.746147C>G | CA397506128 | GEMIN4 | c.1896G>C (p.Met632Ile) c.1863G>C (p.Met621Ile) c.1908G>C (p.Met636Ile) | |
17 | g.746147C>T | CA397506129 | GEMIN4 | c.1896G>A (p.Met632Ile) c.1863G>A (p.Met621Ile) c.1908G>A (p.Met636Ile) | |
17 | g.746148A>C | CA397506130 | GEMIN4 | c.1895T>G (p.Met632Arg) c.1862T>G (p.Met621Arg) c.1907T>G (p.Met636Arg) | |
17 | g.746148A>G | CA397506131 | GEMIN4 | c.1895T>C (p.Met632Thr) c.1862T>C (p.Met621Thr) c.1907T>C (p.Met636Thr) | |
17 | g.746148A>T | CA397506132 | GEMIN4 | c.1895T>A (p.Met632Lys) c.1862T>A (p.Met621Lys) c.1907T>A (p.Met636Lys) | COSMIC COSMIC |
17 | g.746149T>A | CA397506133 | GEMIN4 | c.1894A>T (p.Met632Leu) c.1861A>T (p.Met621Leu) c.1906A>T (p.Met636Leu) | |
17 | g.746149T>C | CA397506135 | GEMIN4 | c.1894A>G (p.Met632Val) c.1861A>G (p.Met621Val) c.1906A>G (p.Met636Val) | |
17 | g.746149T>G | CA397506134 | GEMIN4 | c.1894A>C (p.Met632Leu) c.1861A>C (p.Met621Leu) c.1906A>C (p.Met636Leu) | |
17 | g.746150C>A | CA497383877 | GEMIN4 | c.1893G>T (p.Leu631=) c.1860G>T (p.Leu620=) c.1905G>T (p.Leu635=) | |
17 | g.746150C= | CA2242474582 | GEMIN4 | c.1893G= (p.Leu631=) c.1860G= (p.Leu620=) c.1905G= (p.Leu635=) | |
17 | g.746150C>G | CA497383879 | GEMIN4 | c.1893G>C (p.Leu631=) c.1860G>C (p.Leu620=) c.1905G>C (p.Leu635=) | dbSNP gnomAD v4 |
17 | g.746150C>T | CA497383880 | GEMIN4 | c.1893G>A (p.Leu631=) c.1860G>A (p.Leu620=) c.1905G>A (p.Leu635=) | |
17 | g.746151A>C | CA397506136 | GEMIN4 | c.1892T>G (p.Leu631Arg) c.1859T>G (p.Leu620Arg) c.1904T>G (p.Leu635Arg) | |
17 | g.746151A>G | CA397506137 | GEMIN4 | c.1892T>C (p.Leu631Pro) c.1859T>C (p.Leu620Pro) c.1904T>C (p.Leu635Pro) | |
17 | g.746151A>T | CA397506138 | GEMIN4 | c.1892T>A (p.Leu631Gln) c.1859T>A (p.Leu620Gln) c.1904T>A (p.Leu635Gln) | |
17 | g.746152G>A | CA497383883 | GEMIN4 | c.1891C>T (p.Leu631=) c.1858C>T (p.Leu620=) c.1903C>T (p.Leu635=) | dbSNP gnomAD v4 |
17 | g.746152G>C | CA8262528 | GEMIN4 | c.1891C>G (p.Leu631Val) c.1858C>G (p.Leu620Val) c.1903C>G (p.Leu635Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746152G= | CA2242474583 | GEMIN4 | c.1891C= (p.Leu631=) c.1858C= (p.Leu620=) c.1903C= (p.Leu635=) | |
17 | g.746152G>T | CA397506139 | GEMIN4 | c.1891C>A (p.Leu631Met) c.1858C>A (p.Leu620Met) c.1903C>A (p.Leu635Met) | |
17 | g.746153G>A | CA497383885 | GEMIN4 | c.1890C>T (p.Cys630=) c.1857C>T (p.Cys619=) c.1902C>T (p.Cys634=) | |
17 | g.746153G>C | CA397506140 | GEMIN4 | c.1890C>G (p.Cys630Trp) c.1857C>G (p.Cys619Trp) c.1902C>G (p.Cys634Trp) | |
17 | g.746153G= | CA2242474584 | GEMIN4 | c.1890C= (p.Cys630=) c.1857C= (p.Cys619=) c.1902C= (p.Cys634=) | |
17 | g.746153G>T | CA8262529 | GEMIN4 | c.1890C>A (p.Cys630Ter) c.1857C>A (p.Cys619Ter) c.1902C>A (p.Cys634Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746154C>A | CA397506141 | GEMIN4 | c.1889G>T (p.Cys630Phe) c.1856G>T (p.Cys619Phe) c.1901G>T (p.Cys634Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746154C= | CA2242474585 | GEMIN4 | c.1889G= (p.Cys630=) c.1856G= (p.Cys619=) c.1901G= (p.Cys634=) | |
17 | g.746154C>G | CA397506142 | GEMIN4 | c.1889G>C (p.Cys630Ser) c.1856G>C (p.Cys619Ser) c.1901G>C (p.Cys634Ser) | |
17 | g.746154C>T | CA397506143 | GEMIN4 | c.1889G>A (p.Cys630Tyr) c.1856G>A (p.Cys619Tyr) c.1901G>A (p.Cys634Tyr) | |
17 | g.746155A= | CA2242474586 | GEMIN4 | c.1888T= (p.Cys630=) c.1855T= (p.Cys619=) c.1900T= (p.Cys634=) | |
17 | g.746155A>C | CA397506144 | GEMIN4 | c.1888T>G (p.Cys630Gly) c.1855T>G (p.Cys619Gly) c.1900T>G (p.Cys634Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746155A>G | CA8262530 | GEMIN4 | c.1888T>C (p.Cys630Arg) c.1855T>C (p.Cys619Arg) c.1900T>C (p.Cys634Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746155A>T | CA397506145 | GEMIN4 | c.1888T>A (p.Cys630Ser) c.1855T>A (p.Cys619Ser) c.1900T>A (p.Cys634Ser) | |
17 | g.746156G>A | CA286713676 | GEMIN4 | c.1887C>T (p.Asn629=) c.1854C>T (p.Asn618=) c.1899C>T (p.Asn633=) | dbSNP gnomAD v4 |
17 | g.746156G>C | CA397506147 | GEMIN4 | c.1887C>G (p.Asn629Lys) c.1854C>G (p.Asn618Lys) c.1899C>G (p.Asn633Lys) | |
17 | g.746156G= | CA2242474587 | GEMIN4 | c.1887C= (p.Asn629=) c.1854C= (p.Asn618=) c.1899C= (p.Asn633=) | |
17 | g.746156G>T | CA397506146 | GEMIN4 | c.1887C>A (p.Asn629Lys) c.1854C>A (p.Asn618Lys) c.1899C>A (p.Asn633Lys) | |
17 | g.746157T>A | CA397506148 | GEMIN4 | c.1886A>T (p.Asn629Ile) c.1853A>T (p.Asn618Ile) c.1898A>T (p.Asn633Ile) | |
17 | g.746157T>C | CA397506149 | GEMIN4 | c.1886A>G (p.Asn629Ser) c.1853A>G (p.Asn618Ser) c.1898A>G (p.Asn633Ser) | |
17 | g.746157T>G | CA397506150 | GEMIN4 | c.1886A>C (p.Asn629Thr) c.1853A>C (p.Asn618Thr) c.1898A>C (p.Asn633Thr) | |
17 | g.746158T>A | CA397506151 | GEMIN4 | c.1885A>T (p.Asn629Tyr) c.1852A>T (p.Asn618Tyr) c.1897A>T (p.Asn633Tyr) | |
17 | g.746158T>C | CA397506152 | GEMIN4 | c.1885A>G (p.Asn629Asp) c.1852A>G (p.Asn618Asp) c.1897A>G (p.Asn633Asp) | |
17 | g.746158T>G | CA397506153 | GEMIN4 | c.1885A>C (p.Asn629His) c.1852A>C (p.Asn618His) c.1897A>C (p.Asn633His) | |
17 | g.746159C>A | CA497383896 | GEMIN4 | c.1884G>T (p.Leu628=) c.1851G>T (p.Leu617=) c.1896G>T (p.Leu632=) | |
17 | g.746159C>G | CA497383897 | GEMIN4 | c.1884G>C (p.Leu628=) c.1851G>C (p.Leu617=) c.1896G>C (p.Leu632=) | |
17 | g.746159C>T | CA497383895 | GEMIN4 | c.1884G>A (p.Leu628=) c.1851G>A (p.Leu617=) c.1896G>A (p.Leu632=) | |
17 | g.746160A= | CA2242474588 | GEMIN4 | c.1883T= (p.Leu628=) c.1850T= (p.Leu617=) c.1895T= (p.Leu632=) | |
17 | g.746160A>C | CA397506154 | GEMIN4 | c.1883T>G (p.Leu628Arg) c.1850T>G (p.Leu617Arg) c.1895T>G (p.Leu632Arg) | |
17 | g.746160A>G | CA8262531 | GEMIN4 | c.1883T>C (p.Leu628Pro) c.1850T>C (p.Leu617Pro) c.1895T>C (p.Leu632Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746160A>T | CA397506155 | GEMIN4 | c.1883T>A (p.Leu628Gln) c.1850T>A (p.Leu617Gln) c.1895T>A (p.Leu632Gln) | |
17 | g.746161G>A | CA8262532 | GEMIN4 | c.1882C>T (p.Leu628=) c.1849C>T (p.Leu617=) c.1894C>T (p.Leu632=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746161G>C | CA397506156 | GEMIN4 | c.1882C>G (p.Leu628Val) c.1849C>G (p.Leu617Val) c.1894C>G (p.Leu632Val) | |
17 | g.746161G= | CA2242474589 | GEMIN4 | c.1882C= (p.Leu628=) c.1849C= (p.Leu617=) c.1894C= (p.Leu632=) | |
17 | g.746161G>T | CA397506157 | GEMIN4 | c.1882C>A (p.Leu628Met) c.1849C>A (p.Leu617Met) c.1894C>A (p.Leu632Met) | |
17 | g.746162G>A | CA497383904 | GEMIN4 | c.1881C>T (p.Leu627=) c.1848C>T (p.Leu616=) c.1893C>T (p.Leu631=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746162G>C | CA497383900 | GEMIN4 | c.1881C>G (p.Leu627=) c.1848C>G (p.Leu616=) c.1893C>G (p.Leu631=) | dbSNP |
17 | g.746162G= | CA2242474590 | GEMIN4 | c.1881C= (p.Leu627=) c.1848C= (p.Leu616=) c.1893C= (p.Leu631=) | |
17 | g.746162G>T | CA497383898 | GEMIN4 | c.1881C>A (p.Leu627=) c.1848C>A (p.Leu616=) c.1893C>A (p.Leu631=) | |
17 | g.746163A= | CA2242474591 | GEMIN4 | c.1880T= (p.Leu627=) c.1847T= (p.Leu616=) c.1892T= (p.Leu631=) | |
17 | g.746163A>C | CA397506158 | GEMIN4 | c.1880T>G (p.Leu627Arg) c.1847T>G (p.Leu616Arg) c.1892T>G (p.Leu631Arg) | |
17 | g.746163A>G | CA8262533 | GEMIN4 | c.1880T>C (p.Leu627Pro) c.1847T>C (p.Leu616Pro) c.1892T>C (p.Leu631Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746163A>T | CA397506159 | GEMIN4 | c.1880T>A (p.Leu627His) c.1847T>A (p.Leu616His) c.1892T>A (p.Leu631His) | |
17 | g.746164G>A | CA397506160 | GEMIN4 | c.1879C>T (p.Leu627Phe) c.1846C>T (p.Leu616Phe) c.1891C>T (p.Leu631Phe) | COSMIC COSMIC |
17 | g.746164G>C | CA397506161 | GEMIN4 | c.1879C>G (p.Leu627Val) c.1846C>G (p.Leu616Val) c.1891C>G (p.Leu631Val) | |
17 | g.746164G>T | CA397506162 | GEMIN4 | c.1879C>A (p.Leu627Ile) c.1846C>A (p.Leu616Ile) c.1891C>A (p.Leu631Ile) | gnomAD v4 |
17 | g.746165C>A | CA397506163 | GEMIN4 | c.1878G>T (p.Glu626Asp) c.1845G>T (p.Glu615Asp) c.1890G>T (p.Glu630Asp) | |
17 | g.746165C= | CA2242474592 | GEMIN4 | c.1878G= (p.Glu626=) c.1845G= (p.Glu615=) c.1890G= (p.Glu630=) | |
17 | g.746165C>G | CA397506164 | GEMIN4 | c.1878G>C (p.Glu626Asp) c.1845G>C (p.Glu615Asp) c.1890G>C (p.Glu630Asp) | gnomAD v4 |
17 | g.746165C>T | CA497383913 | GEMIN4 | c.1878G>A (p.Glu626=) c.1845G>A (p.Glu615=) c.1890G>A (p.Glu630=) | dbSNP gnomAD v4 |
17 | g.746166T>A | CA397506165 | GEMIN4 | c.1877A>T (p.Glu626Val) c.1844A>T (p.Glu615Val) c.1889A>T (p.Glu630Val) | |
17 | g.746166T>C | CA397506167 | GEMIN4 | c.1877A>G (p.Glu626Gly) c.1844A>G (p.Glu615Gly) c.1889A>G (p.Glu630Gly) | gnomAD v4 |
17 | g.746166T>G | CA397506166 | GEMIN4 | c.1877A>C (p.Glu626Ala) c.1844A>C (p.Glu615Ala) c.1889A>C (p.Glu630Ala) | |
17 | g.746167C>A | CA397506168 | GEMIN4 | c.1876G>T (p.Glu626Ter) c.1843G>T (p.Glu615Ter) c.1888G>T (p.Glu630Ter) | |
17 | g.746167C>G | CA397506170 | GEMIN4 | c.1876G>C (p.Glu626Gln) c.1843G>C (p.Glu615Gln) c.1888G>C (p.Glu630Gln) | gnomAD v4 |
17 | g.746167C>T | CA397506169 | GEMIN4 | c.1876G>A (p.Glu626Lys) c.1843G>A (p.Glu615Lys) c.1888G>A (p.Glu630Lys) | |
17 | g.746168T>A | CA397506171 | GEMIN4 | c.1875A>T (p.Leu625Phe) c.1842A>T (p.Leu614Phe) c.1887A>T (p.Leu629Phe) | |
17 | g.746168T>C | CA497383916 | GEMIN4 | c.1875A>G (p.Leu625=) c.1842A>G (p.Leu614=) c.1887A>G (p.Leu629=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746168T>G | CA397506172 | GEMIN4 | c.1875A>C (p.Leu625Phe) c.1842A>C (p.Leu614Phe) c.1887A>C (p.Leu629Phe) | gnomAD v4 |
17 | g.746168T= | CA2242474593 | GEMIN4 | c.1875A= (p.Leu625=) c.1842A= (p.Leu614=) c.1887A= (p.Leu629=) | |
17 | g.746169A>C | CA397506173 | GEMIN4 | c.1874T>G (p.Leu625Ter) c.1841T>G (p.Leu614Ter) c.1886T>G (p.Leu629Ter) | |
17 | g.746169A>G | CA397506174 | GEMIN4 | c.1874T>C (p.Leu625Ser) c.1841T>C (p.Leu614Ser) c.1886T>C (p.Leu629Ser) | |
17 | g.746169A>T | CA397506175 | GEMIN4 | c.1874T>A (p.Leu625Ter) c.1841T>A (p.Leu614Ter) c.1886T>A (p.Leu629Ter) | |
17 | g.746170A>C | CA397506176 | GEMIN4 | c.1873T>G (p.Leu625Val) c.1840T>G (p.Leu614Val) c.1885T>G (p.Leu629Val) | |
17 | g.746170A>G | CA497383917 | GEMIN4 | c.1873T>C (p.Leu625=) c.1840T>C (p.Leu614=) c.1885T>C (p.Leu629=) | |
17 | g.746170A>T | CA397506177 | GEMIN4 | c.1873T>A (p.Leu625Ile) c.1840T>A (p.Leu614Ile) c.1885T>A (p.Leu629Ile) | |
17 | g.746170_746180del | CA2635153317 | GEMIN4 | c.1863_1873del (p.Glu621AspfsTer23) c.1830_1840del (p.Glu610AspfsTer23) c.1875_1885del (p.Glu625AspfsTer23) | gnomAD v4 |
17 | g.746171A= | CA2242474594 | GEMIN4 | c.1872T= (p.Phe624=) c.1839T= (p.Phe613=) c.1884T= (p.Phe628=) | |
17 | g.746171A>C | CA397506178 | GEMIN4 | c.1872T>G (p.Phe624Leu) c.1839T>G (p.Phe613Leu) c.1884T>G (p.Phe628Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746171A>G | CA497383920 | GEMIN4 | c.1872T>C (p.Phe624=) c.1839T>C (p.Phe613=) c.1884T>C (p.Phe628=) | |
17 | g.746171A>T | CA397506179 | GEMIN4 | c.1872T>A (p.Phe624Leu) c.1839T>A (p.Phe613Leu) c.1884T>A (p.Phe628Leu) | |
17 | g.746172A>C | CA397506180 | GEMIN4 | c.1871T>G (p.Phe624Cys) c.1838T>G (p.Phe613Cys) c.1883T>G (p.Phe628Cys) | |
17 | g.746172A>G | CA397506181 | GEMIN4 | c.1871T>C (p.Phe624Ser) c.1838T>C (p.Phe613Ser) c.1883T>C (p.Phe628Ser) | |
17 | g.746172A>T | CA397506182 | GEMIN4 | c.1871T>A (p.Phe624Tyr) c.1838T>A (p.Phe613Tyr) c.1883T>A (p.Phe628Tyr) | |
17 | g.746173A= | CA2242474595 | GEMIN4 | c.1870T= (p.Phe624=) c.1837T= (p.Phe613=) c.1882T= (p.Phe628=) | |
17 | g.746173A>C | CA286713677 | GEMIN4 | c.1870T>G (p.Phe624Val) c.1837T>G (p.Phe613Val) c.1882T>G (p.Phe628Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746173A>G | CA397506184 | GEMIN4 | c.1870T>C (p.Phe624Leu) c.1837T>C (p.Phe613Leu) c.1882T>C (p.Phe628Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746173A>T | CA397506183 | GEMIN4 | c.1870T>A (p.Phe624Ile) c.1837T>A (p.Phe613Ile) c.1882T>A (p.Phe628Ile) | |
17 | g.746174T>A | CA397506185 | GEMIN4 | c.1869A>T (p.Gln623His) c.1836A>T (p.Gln612His) c.1881A>T (p.Gln627His) | |
17 | g.746174T>C | CA497383922 | GEMIN4 | c.1869A>G (p.Gln623=) c.1836A>G (p.Gln612=) c.1881A>G (p.Gln627=) | dbSNP |
17 | g.746174T>G | CA397506186 | GEMIN4 | c.1869A>C (p.Gln623His) c.1836A>C (p.Gln612His) c.1881A>C (p.Gln627His) | |
17 | g.746175T>A | CA397506187 | GEMIN4 | c.1868A>T (p.Gln623Leu) c.1835A>T (p.Gln612Leu) c.1880A>T (p.Gln627Leu) | |
17 | g.746175T>C | CA397506188 | GEMIN4 | c.1868A>G (p.Gln623Arg) c.1835A>G (p.Gln612Arg) c.1880A>G (p.Gln627Arg) | |
17 | g.746175T>G | CA397506189 | GEMIN4 | c.1868A>C (p.Gln623Pro) c.1835A>C (p.Gln612Pro) c.1880A>C (p.Gln627Pro) | |
17 | g.746176G>A | CA397506190 | GEMIN4 | c.1867C>T (p.Gln623Ter) c.1834C>T (p.Gln612Ter) c.1879C>T (p.Gln627Ter) | |
17 | g.746176G>C | CA397506191 | GEMIN4 | c.1867C>G (p.Gln623Glu) c.1834C>G (p.Gln612Glu) c.1879C>G (p.Gln627Glu) | |
17 | g.746176G>T | CA397506192 | GEMIN4 | c.1867C>A (p.Gln623Lys) c.1834C>A (p.Gln612Lys) c.1879C>A (p.Gln627Lys) | |
17 | g.746177C>A | CA397506193 | GEMIN4 | c.1866G>T (p.Lys622Asn) c.1833G>T (p.Lys611Asn) c.1878G>T (p.Lys626Asn) | |
17 | g.746177C= | CA2242474596 | GEMIN4 | c.1866G= (p.Lys622=) c.1833G= (p.Lys611=) c.1878G= (p.Lys626=) | |
17 | g.746177C>G | CA397506194 | GEMIN4 | c.1866G>C (p.Lys622Asn) c.1833G>C (p.Lys611Asn) c.1878G>C (p.Lys626Asn) | dbSNP |
17 | g.746177C>T | CA497383927 | GEMIN4 | c.1866G>A (p.Lys622=) c.1833G>A (p.Lys611=) c.1878G>A (p.Lys626=) | |
17 | g.746178T>A | CA397506196 | GEMIN4 | c.1865A>T (p.Lys622Met) c.1832A>T (p.Lys611Met) c.1877A>T (p.Lys626Met) | |
17 | g.746178T>C | CA397506197 | GEMIN4 | c.1865A>G (p.Lys622Arg) c.1832A>G (p.Lys611Arg) c.1877A>G (p.Lys626Arg) | |
17 | g.746178T>G | CA397506195 | GEMIN4 | c.1865A>C (p.Lys622Thr) c.1832A>C (p.Lys611Thr) c.1877A>C (p.Lys626Thr) | |
17 | g.746179T>A | CA397506198 | GEMIN4 | c.1864A>T (p.Lys622Ter) c.1831A>T (p.Lys611Ter) c.1876A>T (p.Lys626Ter) | |
17 | g.746179T>C | CA397506199 | GEMIN4 | c.1864A>G (p.Lys622Glu) c.1831A>G (p.Lys611Glu) c.1876A>G (p.Lys626Glu) | |
17 | g.746179T>G | CA397506200 | GEMIN4 | c.1864A>C (p.Lys622Gln) c.1831A>C (p.Lys611Gln) c.1876A>C (p.Lys626Gln) | |
17 | g.746180T>A | CA397506201 | GEMIN4 | c.1863A>T (p.Glu621Asp) c.1830A>T (p.Glu610Asp) c.1875A>T (p.Glu625Asp) | |
17 | g.746180T>C | CA497383934 | GEMIN4 | c.1863A>G (p.Glu621=) c.1830A>G (p.Glu610=) c.1875A>G (p.Glu625=) | |
17 | g.746180T>G | CA397506202 | GEMIN4 | c.1863A>C (p.Glu621Asp) c.1830A>C (p.Glu610Asp) c.1875A>C (p.Glu625Asp) | |
17 | g.746181T>A | CA397506203 | GEMIN4 | c.1862A>T (p.Glu621Val) c.1829A>T (p.Glu610Val) c.1874A>T (p.Glu625Val) | |
17 | g.746181T>C | CA286713678 | GEMIN4 | c.1862A>G (p.Glu621Gly) c.1829A>G (p.Glu610Gly) c.1874A>G (p.Glu625Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746181T>G | CA8262534 | GEMIN4 | c.1862A>C (p.Glu621Ala) c.1829A>C (p.Glu610Ala) c.1874A>C (p.Glu625Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746181T= | CA2242474597 | GEMIN4 | c.1862A= (p.Glu621=) c.1829A= (p.Glu610=) c.1874A= (p.Glu625=) | |
17 | g.746182C>A | CA397506204 | GEMIN4 | c.1861G>T (p.Glu621Ter) c.1828G>T (p.Glu610Ter) c.1873G>T (p.Glu625Ter) | gnomAD v4 |
17 | g.746182C>G | CA397506205 | GEMIN4 | c.1861G>C (p.Glu621Gln) c.1828G>C (p.Glu610Gln) c.1873G>C (p.Glu625Gln) | |
17 | g.746182C>T | CA397506206 | GEMIN4 | c.1861G>A (p.Glu621Lys) c.1828G>A (p.Glu610Lys) c.1873G>A (p.Glu625Lys) | |
17 | g.746183T>A | CA397506207 | GEMIN4 | c.1860A>T (p.Glu620Asp) c.1827A>T (p.Glu609Asp) c.1872A>T (p.Glu624Asp) | |
17 | g.746183T>C | CA497383935 | GEMIN4 | c.1860A>G (p.Glu620=) c.1827A>G (p.Glu609=) c.1872A>G (p.Glu624=) | dbSNP gnomAD v4 |
17 | g.746183T>G | CA397506208 | GEMIN4 | c.1860A>C (p.Glu620Asp) c.1827A>C (p.Glu609Asp) c.1872A>C (p.Glu624Asp) | |
17 | g.746184del | CA2635153320 | GEMIN4 | c.1860del (p.Glu621LysfsTer5) c.1827del (p.Glu610LysfsTer5) c.1872del (p.Glu625LysfsTer5) | gnomAD v4 |
17 | g.746184T>A | CA397506211 | GEMIN4 | c.1859A>T (p.Glu620Val) c.1826A>T (p.Glu609Val) c.1871A>T (p.Glu624Val) | |
17 | g.746184T>C | CA397506210 | GEMIN4 | c.1859A>G (p.Glu620Gly) c.1826A>G (p.Glu609Gly) c.1871A>G (p.Glu624Gly) | |
17 | g.746184T>G | CA397506209 | GEMIN4 | c.1859A>C (p.Glu620Ala) c.1826A>C (p.Glu609Ala) c.1871A>C (p.Glu624Ala) | |
17 | g.746185C>A | CA397506212 | GEMIN4 | c.1858G>T (p.Glu620Ter) c.1825G>T (p.Glu609Ter) c.1870G>T (p.Glu624Ter) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746185C= | CA2242474598 | GEMIN4 | c.1858G= (p.Glu620=) c.1825G= (p.Glu609=) c.1870G= (p.Glu624=) | |
17 | g.746185C>G | CA397506213 | GEMIN4 | c.1858G>C (p.Glu620Gln) c.1825G>C (p.Glu609Gln) c.1870G>C (p.Glu624Gln) | |
17 | g.746185C>T | CA397506214 | GEMIN4 | c.1858G>A (p.Glu620Lys) c.1825G>A (p.Glu609Lys) c.1870G>A (p.Glu624Lys) | |
17 | g.746186C>A | CA397506215 | GEMIN4 | c.1857G>T (p.Lys619Asn) c.1824G>T (p.Lys608Asn) c.1869G>T (p.Lys623Asn) | |
17 | g.746186C= | CA2242474599 | GEMIN4 | c.1857G= (p.Lys619=) c.1824G= (p.Lys608=) c.1869G= (p.Lys623=) | |
17 | g.746186C>G | CA397506216 | GEMIN4 | c.1857G>C (p.Lys619Asn) c.1824G>C (p.Lys608Asn) c.1869G>C (p.Lys623Asn) | |
17 | g.746186C>T | CA8262535 | GEMIN4 | c.1857G>A (p.Lys619=) c.1824G>A (p.Lys608=) c.1869G>A (p.Lys623=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746187T>A | CA397506217 | GEMIN4 | c.1856A>T (p.Lys619Met) c.1823A>T (p.Lys608Met) c.1868A>T (p.Lys623Met) | |
17 | g.746187T>C | CA397506218 | GEMIN4 | c.1856A>G (p.Lys619Arg) c.1823A>G (p.Lys608Arg) c.1868A>G (p.Lys623Arg) | |
17 | g.746187T>G | CA397506219 | GEMIN4 | c.1856A>C (p.Lys619Thr) c.1823A>C (p.Lys608Thr) c.1868A>C (p.Lys623Thr) | |
17 | g.746188T>A | CA397506220 | GEMIN4 | c.1855A>T (p.Lys619Ter) c.1822A>T (p.Lys608Ter) c.1867A>T (p.Lys623Ter) | |
17 | g.746188T>C | CA397506221 | GEMIN4 | c.1855A>G (p.Lys619Glu) c.1822A>G (p.Lys608Glu) c.1867A>G (p.Lys623Glu) | gnomAD v4 |
17 | g.746188T>G | CA397506222 | GEMIN4 | c.1855A>C (p.Lys619Gln) c.1822A>C (p.Lys608Gln) c.1867A>C (p.Lys623Gln) | |
17 | g.746188_746197del | CA2635153321 | GEMIN4 | c.1846_1855del (p.Ser616ArgfsTer7) c.1813_1822del (p.Ser605ArgfsTer7) c.1858_1867del (p.Ser620ArgfsTer7) | gnomAD v4 |
17 | g.746189G>A | CA497383945 | GEMIN4 | c.1854C>T (p.Pro618=) c.1821C>T (p.Pro607=) c.1866C>T (p.Pro622=) | gnomAD v4 |
17 | g.746189G>C | CA497383946 | GEMIN4 | c.1854C>G (p.Pro618=) c.1821C>G (p.Pro607=) c.1866C>G (p.Pro622=) | |
17 | g.746189G>T | CA497383949 | GEMIN4 | c.1854C>A (p.Pro618=) c.1821C>A (p.Pro607=) c.1866C>A (p.Pro622=) | COSMIC COSMIC |
17 | g.746191del | CA2576107244 | GEMIN4 | c.1854del (p.Lys619ArgfsTer7) c.1821del (p.Lys608ArgfsTer7) c.1866del (p.Lys623ArgfsTer7) | |
17 | g.746190G>A | CA397506223 | GEMIN4 | c.1853C>T (p.Pro618Leu) c.1820C>T (p.Pro607Leu) c.1865C>T (p.Pro622Leu) | |
17 | g.746190G>C | CA397506225 | GEMIN4 | c.1853C>G (p.Pro618Arg) c.1820C>G (p.Pro607Arg) c.1865C>G (p.Pro622Arg) | |
17 | g.746190G>T | CA397506224 | GEMIN4 | c.1853C>A (p.Pro618His) c.1820C>A (p.Pro607His) c.1865C>A (p.Pro622His) | |
17 | g.746191G>A | CA286713679 | GEMIN4 | c.1852C>T (p.Pro618Ser) c.1819C>T (p.Pro607Ser) c.1864C>T (p.Pro622Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.746191G>C | CA397506227 | GEMIN4 | c.1852C>G (p.Pro618Ala) c.1819C>G (p.Pro607Ala) c.1864C>G (p.Pro622Ala) | |
17 | g.746191G= | CA2242474600 | GEMIN4 | c.1852C= (p.Pro618=) c.1819C= (p.Pro607=) c.1864C= (p.Pro622=) | |
17 | g.746191G>T | CA397506226 | GEMIN4 | c.1852C>A (p.Pro618Thr) c.1819C>A (p.Pro607Thr) c.1864C>A (p.Pro622Thr) | |
17 | g.746192T>A | CA497383953 | GEMIN4 | c.1851A>T (p.Thr617=) c.1818A>T (p.Thr606=) c.1863A>T (p.Thr621=) | |
17 | g.746192T>C | CA497383955 | GEMIN4 | c.1851A>G (p.Thr617=) c.1818A>G (p.Thr606=) c.1863A>G (p.Thr621=) | |
17 | g.746192T>G | CA497383956 | GEMIN4 | c.1851A>C (p.Thr617=) c.1818A>C (p.Thr606=) c.1863A>C (p.Thr621=) | |
17 | g.746193G>A | CA8262536 | GEMIN4 | c.1850C>T (p.Thr617Ile) c.1817C>T (p.Thr606Ile) c.1862C>T (p.Thr621Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746193G>C | CA397506229 | GEMIN4 | c.1850C>G (p.Thr617Arg) c.1817C>G (p.Thr606Arg) c.1862C>G (p.Thr621Arg) | |
17 | g.746193G= | CA2242474601 | GEMIN4 | c.1850C= (p.Thr617=) c.1817C= (p.Thr606=) c.1862C= (p.Thr621=) | |
17 | g.746193G>T | CA397506228 | GEMIN4 | c.1850C>A (p.Thr617Lys) c.1817C>A (p.Thr606Lys) c.1862C>A (p.Thr621Lys) | |
17 | g.746194T>A | CA397506230 | GEMIN4 | c.1849A>T (p.Thr617Ser) c.1816A>T (p.Thr606Ser) c.1861A>T (p.Thr621Ser) | |
17 | g.746194T>C | CA397506231 | GEMIN4 | c.1849A>G (p.Thr617Ala) c.1816A>G (p.Thr606Ala) c.1861A>G (p.Thr621Ala) | dbSNP gnomAD v4 |
17 | g.746194T>G | CA397506232 | GEMIN4 | c.1849A>C (p.Thr617Pro) c.1816A>C (p.Thr606Pro) c.1861A>C (p.Thr621Pro) | gnomAD v4 |
17 | g.746194T= | CA2242474602 | GEMIN4 | c.1849A= (p.Thr617=) c.1816A= (p.Thr606=) c.1861A= (p.Thr621=) | |
17 | g.746195A>C | CA497383960 | GEMIN4 | c.1848T>G (p.Ser616=) c.1815T>G (p.Ser605=) c.1860T>G (p.Ser620=) | |
17 | g.746195A>G | CA497383963 | GEMIN4 | c.1848T>C (p.Ser616=) c.1815T>C (p.Ser605=) c.1860T>C (p.Ser620=) | gnomAD v4 |
17 | g.746195A>T | CA497383965 | GEMIN4 | c.1848T>A (p.Ser616=) c.1815T>A (p.Ser605=) c.1860T>A (p.Ser620=) | |
17 | g.746196G>A | CA397506233 | GEMIN4 | c.1847C>T (p.Ser616Phe) c.1814C>T (p.Ser605Phe) c.1859C>T (p.Ser620Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746196G>C | CA397506234 | GEMIN4 | c.1847C>G (p.Ser616Cys) c.1814C>G (p.Ser605Cys) c.1859C>G (p.Ser620Cys) | gnomAD v4 |
17 | g.746196G= | CA2242474603 | GEMIN4 | c.1847C= (p.Ser616=) c.1814C= (p.Ser605=) c.1859C= (p.Ser620=) | |
17 | g.746196G>T | CA397506235 | GEMIN4 | c.1847C>A (p.Ser616Tyr) c.1814C>A (p.Ser605Tyr) c.1859C>A (p.Ser620Tyr) | |
17 | g.746197A>C | CA397506236 | GEMIN4 | c.1846T>G (p.Ser616Ala) c.1813T>G (p.Ser605Ala) c.1858T>G (p.Ser620Ala) | |
17 | g.746197A>G | CA397506237 | GEMIN4 | c.1846T>C (p.Ser616Pro) c.1813T>C (p.Ser605Pro) c.1858T>C (p.Ser620Pro) | |
17 | g.746197A>T | CA397506238 | GEMIN4 | c.1846T>A (p.Ser616Thr) c.1813T>A (p.Ser605Thr) c.1858T>A (p.Ser620Thr) | |
17 | g.746198G>A | CA497383969 | GEMIN4 | c.1845C>T (p.Phe615=) c.1812C>T (p.Phe604=) c.1857C>T (p.Phe619=) | |
17 | g.746198G>C | CA397506239 | GEMIN4 | c.1845C>G (p.Phe615Leu) c.1812C>G (p.Phe604Leu) c.1857C>G (p.Phe619Leu) | |
17 | g.746198G>T | CA397506240 | GEMIN4 | c.1845C>A (p.Phe615Leu) c.1812C>A (p.Phe604Leu) c.1857C>A (p.Phe619Leu) | |
17 | g.746199A>C | CA397506243 | GEMIN4 | c.1844T>G (p.Phe615Cys) c.1811T>G (p.Phe604Cys) c.1856T>G (p.Phe619Cys) | |
17 | g.746199A>G | CA397506242 | GEMIN4 | c.1844T>C (p.Phe615Ser) c.1811T>C (p.Phe604Ser) c.1856T>C (p.Phe619Ser) | gnomAD v4 |
17 | g.746199A>T | CA397506241 | GEMIN4 | c.1844T>A (p.Phe615Tyr) c.1811T>A (p.Phe604Tyr) c.1856T>A (p.Phe619Tyr) | |
17 | g.746200A>C | CA397506244 | GEMIN4 | c.1843T>G (p.Phe615Val) c.1810T>G (p.Phe604Val) c.1855T>G (p.Phe619Val) | gnomAD v4 |
17 | g.746200A>G | CA397506245 | GEMIN4 | c.1843T>C (p.Phe615Leu) c.1810T>C (p.Phe604Leu) c.1855T>C (p.Phe619Leu) | |
17 | g.746200A>T | CA397506246 | GEMIN4 | c.1843T>A (p.Phe615Ile) c.1810T>A (p.Phe604Ile) c.1855T>A (p.Phe619Ile) | |
17 | g.746201C>A | CA397506247 | GEMIN4 | c.1842G>T (p.Lys614Asn) c.1809G>T (p.Lys603Asn) c.1854G>T (p.Lys618Asn) | gnomAD v4 |
17 | g.746201C>G | CA397506248 | GEMIN4 | c.1842G>C (p.Lys614Asn) c.1809G>C (p.Lys603Asn) c.1854G>C (p.Lys618Asn) | |
17 | g.746201C>T | CA497383974 | GEMIN4 | c.1842G>A (p.Lys614=) c.1809G>A (p.Lys603=) c.1854G>A (p.Lys618=) | gnomAD v4 |
17 | g.746202T>A | CA397506249 | GEMIN4 | c.1841A>T (p.Lys614Met) c.1808A>T (p.Lys603Met) c.1853A>T (p.Lys618Met) | |
17 | g.746202T>C | CA397506250 | GEMIN4 | c.1841A>G (p.Lys614Arg) c.1808A>G (p.Lys603Arg) c.1853A>G (p.Lys618Arg) | dbSNP gnomAD v4 |
17 | g.746202T>G | CA397506251 | GEMIN4 | c.1841A>C (p.Lys614Thr) c.1808A>C (p.Lys603Thr) c.1853A>C (p.Lys618Thr) | |
17 | g.746202T= | CA2242474604 | GEMIN4 | c.1841A= (p.Lys614=) c.1808A= (p.Lys603=) c.1853A= (p.Lys618=) | |
17 | g.746202_746203insCA | CA2635153323 | GEMIN4 | c.1840_1841insTG (p.Lys614MetfsTer13) c.1807_1808insTG (p.Lys603MetfsTer13) c.1852_1853insTG (p.Lys618MetfsTer13) | gnomAD v4 |
17 | g.746203T>A | CA397506252 | GEMIN4 | c.1840A>T (p.Lys614Ter) c.1807A>T (p.Lys603Ter) c.1852A>T (p.Lys618Ter) | |
17 | g.746203T>C | CA397506253 | GEMIN4 | c.1840A>G (p.Lys614Glu) c.1807A>G (p.Lys603Glu) c.1852A>G (p.Lys618Glu) | |
17 | g.746203T>G | CA397506254 | GEMIN4 | c.1840A>C (p.Lys614Gln) c.1807A>C (p.Lys603Gln) c.1852A>C (p.Lys618Gln) | |
17 | g.746203_746204insGATCCACCCGCCTCGGCC | CA2635153324 | GEMIN4 | c.1839_1840insGGCCGAGGCGGGTGGATC (p.Met613_Lys614insGlyArgGlyGlyTrpIle) c.1806_1807insGGCCGAGGCGGGTGGATC (p.Met602_Lys603insGlyArgGlyGlyTrpIle) c.1851_1852insGGCCGAGGCGGGTGGATC (p.Met617_Lys618insGlyArgGlyGlyTrpIle) | gnomAD v4 |
17 | g.746204C>A | CA397506257 | GEMIN4 | c.1839G>T (p.Met613Ile) c.1806G>T (p.Met602Ile) c.1851G>T (p.Met617Ile) | |
17 | g.746204C>G | CA397506256 | GEMIN4 | c.1839G>C (p.Met613Ile) c.1806G>C (p.Met602Ile) c.1851G>C (p.Met617Ile) | |
17 | g.746204C>T | CA397506255 | GEMIN4 | c.1839G>A (p.Met613Ile) c.1806G>A (p.Met602Ile) c.1851G>A (p.Met617Ile) | |
17 | g.746206_746209del | CA2635153325 | GEMIN4 | c.1836_1839del (p.Trp612Ter) c.1803_1806del (p.Trp601Ter) c.1848_1851del (p.Trp616Ter) | gnomAD v4 |
17 | g.746205A= | CA2242474605 | GEMIN4 | c.1838T= (p.Met613=) c.1805T= (p.Met602=) c.1850T= (p.Met617=) | |
17 | g.746205A>C | CA397506258 | GEMIN4 | c.1838T>G (p.Met613Arg) c.1805T>G (p.Met602Arg) c.1850T>G (p.Met617Arg) | |
17 | g.746205A>G | CA286713680 | GEMIN4 | c.1838T>C (p.Met613Thr) c.1805T>C (p.Met602Thr) c.1850T>C (p.Met617Thr) | dbSNP gnomAD v4 |
17 | g.746205A>T | CA397506259 | GEMIN4 | c.1838T>A (p.Met613Lys) c.1805T>A (p.Met602Lys) c.1850T>A (p.Met617Lys) | COSMIC COSMIC |
17 | g.746206T>A | CA397506260 | GEMIN4 | c.1837A>T (p.Met613Leu) c.1804A>T (p.Met602Leu) c.1849A>T (p.Met617Leu) | |
17 | g.746206T>C | CA397506261 | GEMIN4 | c.1837A>G (p.Met613Val) c.1804A>G (p.Met602Val) c.1849A>G (p.Met617Val) | |
17 | g.746206T>G | CA397506262 | GEMIN4 | c.1837A>C (p.Met613Leu) c.1804A>C (p.Met602Leu) c.1849A>C (p.Met617Leu) | |
17 | g.746207C>A | CA397506263 | GEMIN4 | c.1836G>T (p.Trp612Cys) c.1803G>T (p.Trp601Cys) c.1848G>T (p.Trp616Cys) | |
17 | g.746207C>G | CA397506264 | GEMIN4 | c.1836G>C (p.Trp612Cys) c.1803G>C (p.Trp601Cys) c.1848G>C (p.Trp616Cys) | |
17 | g.746207C>T | CA397506265 | GEMIN4 | c.1836G>A (p.Trp612Ter) c.1803G>A (p.Trp601Ter) c.1848G>A (p.Trp616Ter) | |
17 | g.746208C>A | CA397506266 | GEMIN4 | c.1835G>T (p.Trp612Leu) c.1802G>T (p.Trp601Leu) c.1847G>T (p.Trp616Leu) | gnomAD v4 |
17 | g.746208C>G | CA397506267 | GEMIN4 | c.1835G>C (p.Trp612Ser) c.1802G>C (p.Trp601Ser) c.1847G>C (p.Trp616Ser) | |
17 | g.746208C>T | CA397506268 | GEMIN4 | c.1835G>A (p.Trp612Ter) c.1802G>A (p.Trp601Ter) c.1847G>A (p.Trp616Ter) | gnomAD v4 |
17 | g.746209A>C | CA397506271 | GEMIN4 | c.1834T>G (p.Trp612Gly) c.1801T>G (p.Trp601Gly) c.1846T>G (p.Trp616Gly) | |
17 | g.746209A>G | CA397506269 | GEMIN4 | c.1834T>C (p.Trp612Arg) c.1801T>C (p.Trp601Arg) c.1846T>C (p.Trp616Arg) | |
17 | g.746209A>T | CA397506270 | GEMIN4 | c.1834T>A (p.Trp612Arg) c.1801T>A (p.Trp601Arg) c.1846T>A (p.Trp616Arg) | |
17 | g.746210G>A | CA497384010 | GEMIN4 | c.1833C>T (p.Val611=) c.1800C>T (p.Val600=) c.1845C>T (p.Val615=) | |
17 | g.746210G>C | CA8262537 | GEMIN4 | c.1833C>G (p.Val611=) c.1800C>G (p.Val600=) c.1845C>G (p.Val615=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746210G= | CA2242474606 | GEMIN4 | c.1833C= (p.Val611=) c.1800C= (p.Val600=) c.1845C= (p.Val615=) | |
17 | g.746210G>T | CA497384014 | GEMIN4 | c.1833C>A (p.Val611=) c.1800C>A (p.Val600=) c.1845C>A (p.Val615=) | |
17 | g.746211A>C | CA397506272 | GEMIN4 | c.1832T>G (p.Val611Gly) c.1799T>G (p.Val600Gly) c.1844T>G (p.Val615Gly) | |
17 | g.746211A>G | CA397506273 | GEMIN4 | c.1832T>C (p.Val611Ala) c.1799T>C (p.Val600Ala) c.1844T>C (p.Val615Ala) | gnomAD v4 |
17 | g.746211A>T | CA397506274 | GEMIN4 | c.1832T>A (p.Val611Asp) c.1799T>A (p.Val600Asp) c.1844T>A (p.Val615Asp) | |
17 | g.746212C>A | CA397506275 | GEMIN4 | c.1831G>T (p.Val611Phe) c.1798G>T (p.Val600Phe) c.1843G>T (p.Val615Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746212C= | CA2242474607 | GEMIN4 | c.1831G= (p.Val611=) c.1798G= (p.Val600=) c.1843G= (p.Val615=) | |
17 | g.746212C>G | CA8262538 | GEMIN4 | c.1831G>C (p.Val611Leu) c.1798G>C (p.Val600Leu) c.1843G>C (p.Val615Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746212C>T | CA8262539 | GEMIN4 | c.1831G>A (p.Val611Ile) c.1798G>A (p.Val600Ile) c.1843G>A (p.Val615Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746213G>A | CA8262540 | GEMIN4 | c.1830C>T (p.Thr610=) c.1797C>T (p.Thr599=) c.1842C>T (p.Thr614=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746213G>C | CA497384017 | GEMIN4 | c.1830C>G (p.Thr610=) c.1797C>G (p.Thr599=) c.1842C>G (p.Thr614=) | gnomAD v4 |
17 | g.746213G= | CA2242474608 | GEMIN4 | c.1830C= (p.Thr610=) c.1797C= (p.Thr599=) c.1842C= (p.Thr614=) | |
17 | g.746213G>T | CA497384019 | GEMIN4 | c.1830C>A (p.Thr610=) c.1797C>A (p.Thr599=) c.1842C>A (p.Thr614=) | COSMIC COSMIC |
17 | g.746214G>A | CA397506276 | GEMIN4 | c.1829C>T (p.Thr610Ile) c.1796C>T (p.Thr599Ile) c.1841C>T (p.Thr614Ile) | |
17 | g.746214G>C | CA397506277 | GEMIN4 | c.1829C>G (p.Thr610Ser) c.1796C>G (p.Thr599Ser) c.1841C>G (p.Thr614Ser) | |
17 | g.746214G>T | CA397506278 | GEMIN4 | c.1829C>A (p.Thr610Asn) c.1796C>A (p.Thr599Asn) c.1841C>A (p.Thr614Asn) | |
17 | g.746214_746215delinsGT | CA2242474610 | GEMIN4 | c.1828_1829delinsAC (p.Thr610=) c.1795_1796delinsAC (p.Thr599=) c.1840_1841delinsAC (p.Thr614=) | |
17 | g.746214_746218delinsGTTTC | CA2242474609 | GEMIN4 | c.1825_1829delinsGAAAC (p.Glu609=) c.1792_1796delinsGAAAC (p.Glu598=) c.1837_1841delinsGAAAC (p.Glu613=) | |
17 | g.746215T>A | CA397506281 | GEMIN4 | c.1828A>T (p.Thr610Ser) c.1795A>T (p.Thr599Ser) c.1840A>T (p.Thr614Ser) | |
17 | g.746215T>C | CA397506280 | GEMIN4 | c.1828A>G (p.Thr610Ala) c.1795A>G (p.Thr599Ala) c.1840A>G (p.Thr614Ala) | |
17 | g.746215T>G | CA397506279 | GEMIN4 | c.1828A>C (p.Thr610Pro) c.1795A>C (p.Thr599Pro) c.1840A>C (p.Thr614Pro) | |
17 | g.746217dup | CA2838506407 | GEMIN4 | c.1828dup (p.Thr610AsnfsTer?) c.1795dup (p.Thr599AsnfsTer?) c.1840dup (p.Thr614AsnfsTer?) | |
17 | g.746217del | CA774955965 | GEMIN4 | c.1828del (p.Thr610ProfsTer4) c.1795del (p.Thr599ProfsTer4) c.1840del (p.Thr614ProfsTer4) | dbSNP |
17 | g.746218_746221del | CA624456781 | GEMIN4 | c.1825_1828del (p.Glu609ProfsTer4) c.1792_1795del (p.Glu598ProfsTer4) c.1837_1840del (p.Glu613ProfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746216T>A | CA397506282 | GEMIN4 | c.1827A>T (p.Glu609Asp) c.1794A>T (p.Glu598Asp) c.1839A>T (p.Glu613Asp) | |
17 | g.746216T>C | CA497384022 | GEMIN4 | c.1827A>G (p.Glu609=) c.1794A>G (p.Glu598=) c.1839A>G (p.Glu613=) | |
17 | g.746216T>G | CA397506283 | GEMIN4 | c.1827A>C (p.Glu609Asp) c.1794A>C (p.Glu598Asp) c.1839A>C (p.Glu613Asp) |