Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.746200A>CCA397506244GEMIN4c.1843T>G (p.Phe615Val)
c.1810T>G (p.Phe604Val)
c.1855T>G (p.Phe619Val)
 gnomAD v4
17g.746200A>GCA397506245GEMIN4c.1843T>C (p.Phe615Leu)
c.1810T>C (p.Phe604Leu)
c.1855T>C (p.Phe619Leu)
17g.746200A>TCA397506246GEMIN4c.1843T>A (p.Phe615Ile)
c.1810T>A (p.Phe604Ile)
c.1855T>A (p.Phe619Ile)
17g.746201C>ACA397506247GEMIN4c.1842G>T (p.Lys614Asn)
c.1809G>T (p.Lys603Asn)
c.1854G>T (p.Lys618Asn)
 gnomAD v4
17g.746201C>GCA397506248GEMIN4c.1842G>C (p.Lys614Asn)
c.1809G>C (p.Lys603Asn)
c.1854G>C (p.Lys618Asn)
17g.746201C>TCA497383974GEMIN4c.1842G>A (p.Lys614=)
c.1809G>A (p.Lys603=)
c.1854G>A (p.Lys618=)
 gnomAD v4
17g.746202T>ACA397506249GEMIN4c.1841A>T (p.Lys614Met)
c.1808A>T (p.Lys603Met)
c.1853A>T (p.Lys618Met)
17g.746202T>CCA397506250GEMIN4c.1841A>G (p.Lys614Arg)
c.1808A>G (p.Lys603Arg)
c.1853A>G (p.Lys618Arg)
 dbSNP gnomAD v4
17g.746202T>GCA397506251GEMIN4c.1841A>C (p.Lys614Thr)
c.1808A>C (p.Lys603Thr)
c.1853A>C (p.Lys618Thr)
17g.746202T=CA2242474604GEMIN4c.1841A= (p.Lys614=)
c.1808A= (p.Lys603=)
c.1853A= (p.Lys618=)
17g.746202_746203insCACA2635153323GEMIN4c.1840_1841insTG (p.Lys614MetfsTer13)
c.1807_1808insTG (p.Lys603MetfsTer13)
c.1852_1853insTG (p.Lys618MetfsTer13)
 gnomAD v4
17g.746203T>ACA397506252GEMIN4c.1840A>T (p.Lys614Ter)
c.1807A>T (p.Lys603Ter)
c.1852A>T (p.Lys618Ter)
17g.746203T>CCA397506253GEMIN4c.1840A>G (p.Lys614Glu)
c.1807A>G (p.Lys603Glu)
c.1852A>G (p.Lys618Glu)
17g.746203T>GCA397506254GEMIN4c.1840A>C (p.Lys614Gln)
c.1807A>C (p.Lys603Gln)
c.1852A>C (p.Lys618Gln)
17g.746203_746204insGATCCACCCGCCTCGGCCCA2635153324GEMIN4c.1839_1840insGGCCGAGGCGGGTGGATC (p.Met613_Lys614insGlyArgGlyGlyTrpIle)
c.1806_1807insGGCCGAGGCGGGTGGATC (p.Met602_Lys603insGlyArgGlyGlyTrpIle)
c.1851_1852insGGCCGAGGCGGGTGGATC (p.Met617_Lys618insGlyArgGlyGlyTrpIle)
 gnomAD v4
17g.746204C>ACA397506257GEMIN4c.1839G>T (p.Met613Ile)
c.1806G>T (p.Met602Ile)
c.1851G>T (p.Met617Ile)
17g.746204C>GCA397506256GEMIN4c.1839G>C (p.Met613Ile)
c.1806G>C (p.Met602Ile)
c.1851G>C (p.Met617Ile)
17g.746204C>TCA397506255GEMIN4c.1839G>A (p.Met613Ile)
c.1806G>A (p.Met602Ile)
c.1851G>A (p.Met617Ile)
17g.746206_746209delCA2635153325GEMIN4c.1836_1839del (p.Trp612Ter)
c.1803_1806del (p.Trp601Ter)
c.1848_1851del (p.Trp616Ter)
 gnomAD v4
17g.746205A=CA2242474605GEMIN4c.1838T= (p.Met613=)
c.1805T= (p.Met602=)
c.1850T= (p.Met617=)
17g.746205A>CCA397506258GEMIN4c.1838T>G (p.Met613Arg)
c.1805T>G (p.Met602Arg)
c.1850T>G (p.Met617Arg)
17g.746205A>GCA286713680GEMIN4c.1838T>C (p.Met613Thr)
c.1805T>C (p.Met602Thr)
c.1850T>C (p.Met617Thr)
 dbSNP gnomAD v4
17g.746205A>TCA397506259GEMIN4c.1838T>A (p.Met613Lys)
c.1805T>A (p.Met602Lys)
c.1850T>A (p.Met617Lys)
 COSMIC COSMIC
17g.746206T>ACA397506260GEMIN4c.1837A>T (p.Met613Leu)
c.1804A>T (p.Met602Leu)
c.1849A>T (p.Met617Leu)
17g.746206T>CCA397506261GEMIN4c.1837A>G (p.Met613Val)
c.1804A>G (p.Met602Val)
c.1849A>G (p.Met617Val)
17g.746206T>GCA397506262GEMIN4c.1837A>C (p.Met613Leu)
c.1804A>C (p.Met602Leu)
c.1849A>C (p.Met617Leu)
17g.746207C>ACA397506263GEMIN4c.1836G>T (p.Trp612Cys)
c.1803G>T (p.Trp601Cys)
c.1848G>T (p.Trp616Cys)
17g.746207C>GCA397506264GEMIN4c.1836G>C (p.Trp612Cys)
c.1803G>C (p.Trp601Cys)
c.1848G>C (p.Trp616Cys)
17g.746207C>TCA397506265GEMIN4c.1836G>A (p.Trp612Ter)
c.1803G>A (p.Trp601Ter)
c.1848G>A (p.Trp616Ter)
17g.746208C>ACA397506266GEMIN4c.1835G>T (p.Trp612Leu)
c.1802G>T (p.Trp601Leu)
c.1847G>T (p.Trp616Leu)
 gnomAD v4
17g.746208C>GCA397506267GEMIN4c.1835G>C (p.Trp612Ser)
c.1802G>C (p.Trp601Ser)
c.1847G>C (p.Trp616Ser)
17g.746208C>TCA397506268GEMIN4c.1835G>A (p.Trp612Ter)
c.1802G>A (p.Trp601Ter)
c.1847G>A (p.Trp616Ter)
 gnomAD v4
17g.746209A>CCA397506271GEMIN4c.1834T>G (p.Trp612Gly)
c.1801T>G (p.Trp601Gly)
c.1846T>G (p.Trp616Gly)
17g.746209A>GCA397506269GEMIN4c.1834T>C (p.Trp612Arg)
c.1801T>C (p.Trp601Arg)
c.1846T>C (p.Trp616Arg)
17g.746209A>TCA397506270GEMIN4c.1834T>A (p.Trp612Arg)
c.1801T>A (p.Trp601Arg)
c.1846T>A (p.Trp616Arg)
17g.746210G>ACA497384010GEMIN4c.1833C>T (p.Val611=)
c.1800C>T (p.Val600=)
c.1845C>T (p.Val615=)
17g.746210G>CCA8262537GEMIN4c.1833C>G (p.Val611=)
c.1800C>G (p.Val600=)
c.1845C>G (p.Val615=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746210G=CA2242474606GEMIN4c.1833C= (p.Val611=)
c.1800C= (p.Val600=)
c.1845C= (p.Val615=)
17g.746210G>TCA497384014GEMIN4c.1833C>A (p.Val611=)
c.1800C>A (p.Val600=)
c.1845C>A (p.Val615=)
17g.746211A>CCA397506272GEMIN4c.1832T>G (p.Val611Gly)
c.1799T>G (p.Val600Gly)
c.1844T>G (p.Val615Gly)
17g.746211A>GCA397506273GEMIN4c.1832T>C (p.Val611Ala)
c.1799T>C (p.Val600Ala)
c.1844T>C (p.Val615Ala)
 gnomAD v4
17g.746211A>TCA397506274GEMIN4c.1832T>A (p.Val611Asp)
c.1799T>A (p.Val600Asp)
c.1844T>A (p.Val615Asp)
17g.746212C>ACA397506275GEMIN4c.1831G>T (p.Val611Phe)
c.1798G>T (p.Val600Phe)
c.1843G>T (p.Val615Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746212C=CA2242474607GEMIN4c.1831G= (p.Val611=)
c.1798G= (p.Val600=)
c.1843G= (p.Val615=)
17g.746212C>GCA8262538GEMIN4c.1831G>C (p.Val611Leu)
c.1798G>C (p.Val600Leu)
c.1843G>C (p.Val615Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746212C>TCA8262539GEMIN4c.1831G>A (p.Val611Ile)
c.1798G>A (p.Val600Ile)
c.1843G>A (p.Val615Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746213G>ACA8262540GEMIN4c.1830C>T (p.Thr610=)
c.1797C>T (p.Thr599=)
c.1842C>T (p.Thr614=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746213G>CCA497384017GEMIN4c.1830C>G (p.Thr610=)
c.1797C>G (p.Thr599=)
c.1842C>G (p.Thr614=)
 gnomAD v4
17g.746213G=CA2242474608GEMIN4c.1830C= (p.Thr610=)
c.1797C= (p.Thr599=)
c.1842C= (p.Thr614=)
17g.746213G>TCA497384019GEMIN4c.1830C>A (p.Thr610=)
c.1797C>A (p.Thr599=)
c.1842C>A (p.Thr614=)
 COSMIC COSMIC
17g.746214G>ACA397506276GEMIN4c.1829C>T (p.Thr610Ile)
c.1796C>T (p.Thr599Ile)
c.1841C>T (p.Thr614Ile)
17g.746214G>CCA397506277GEMIN4c.1829C>G (p.Thr610Ser)
c.1796C>G (p.Thr599Ser)
c.1841C>G (p.Thr614Ser)
17g.746214G>TCA397506278GEMIN4c.1829C>A (p.Thr610Asn)
c.1796C>A (p.Thr599Asn)
c.1841C>A (p.Thr614Asn)
17g.746214_746215delinsGTCA2242474610GEMIN4c.1828_1829delinsAC (p.Thr610=)
c.1795_1796delinsAC (p.Thr599=)
c.1840_1841delinsAC (p.Thr614=)
17g.746214_746218delinsGTTTCCA2242474609GEMIN4c.1825_1829delinsGAAAC (p.Glu609=)
c.1792_1796delinsGAAAC (p.Glu598=)
c.1837_1841delinsGAAAC (p.Glu613=)
17g.746215T>ACA397506281GEMIN4c.1828A>T (p.Thr610Ser)
c.1795A>T (p.Thr599Ser)
c.1840A>T (p.Thr614Ser)
17g.746215T>CCA397506280GEMIN4c.1828A>G (p.Thr610Ala)
c.1795A>G (p.Thr599Ala)
c.1840A>G (p.Thr614Ala)
17g.746215T>GCA397506279GEMIN4c.1828A>C (p.Thr610Pro)
c.1795A>C (p.Thr599Pro)
c.1840A>C (p.Thr614Pro)
17g.746217delCA774955965GEMIN4c.1828del (p.Thr610ProfsTer4)
c.1795del (p.Thr599ProfsTer4)
c.1840del (p.Thr614ProfsTer4)
 dbSNP
17g.746218_746221delCA624456781GEMIN4c.1825_1828del (p.Glu609ProfsTer4)
c.1792_1795del (p.Glu598ProfsTer4)
c.1837_1840del (p.Glu613ProfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746216T>ACA397506282GEMIN4c.1827A>T (p.Glu609Asp)
c.1794A>T (p.Glu598Asp)
c.1839A>T (p.Glu613Asp)
17g.746216T>CCA497384022GEMIN4c.1827A>G (p.Glu609=)
c.1794A>G (p.Glu598=)
c.1839A>G (p.Glu613=)
17g.746216T>GCA397506283GEMIN4c.1827A>C (p.Glu609Asp)
c.1794A>C (p.Glu598Asp)
c.1839A>C (p.Glu613Asp)
17g.746217T>ACA397506284GEMIN4c.1826A>T (p.Glu609Val)
c.1793A>T (p.Glu598Val)
c.1838A>T (p.Glu613Val)
17g.746217T>CCA397506285GEMIN4c.1826A>G (p.Glu609Gly)
c.1793A>G (p.Glu598Gly)
c.1838A>G (p.Glu613Gly)
 gnomAD v4
17g.746217T>GCA397506286GEMIN4c.1826A>C (p.Glu609Ala)
c.1793A>C (p.Glu598Ala)
c.1838A>C (p.Glu613Ala)
17g.746218C>ACA397506287GEMIN4c.1825G>T (p.Glu609Ter)
c.1792G>T (p.Glu598Ter)
c.1837G>T (p.Glu613Ter)
17g.746218C>GCA397506288GEMIN4c.1825G>C (p.Glu609Gln)
c.1792G>C (p.Glu598Gln)
c.1837G>C (p.Glu613Gln)
 gnomAD v4
17g.746218C>TCA397506289GEMIN4c.1825G>A (p.Glu609Lys)
c.1792G>A (p.Glu598Lys)
c.1837G>A (p.Glu613Lys)
17g.746219T>ACA397506290GEMIN4c.1824A>T (p.Lys608Asn)
c.1791A>T (p.Lys597Asn)
c.1836A>T (p.Lys612Asn)
17g.746219T>CCA497384036GEMIN4c.1824A>G (p.Lys608=)
c.1791A>G (p.Lys597=)
c.1836A>G (p.Lys612=)
17g.746219T>GCA397506291GEMIN4c.1824A>C (p.Lys608Asn)
c.1791A>C (p.Lys597Asn)
c.1836A>C (p.Lys612Asn)
17g.746220T>ACA397506292GEMIN4c.1823A>T (p.Lys608Ile)
c.1790A>T (p.Lys597Ile)
c.1835A>T (p.Lys612Ile)
17g.746220T>CCA397506293GEMIN4c.1823A>G (p.Lys608Arg)
c.1790A>G (p.Lys597Arg)
c.1835A>G (p.Lys612Arg)
 dbSNP gnomAD v4
17g.746220T>GCA397506294GEMIN4c.1823A>C (p.Lys608Thr)
c.1790A>C (p.Lys597Thr)
c.1835A>C (p.Lys612Thr)
17g.746220T=CA2242474611GEMIN4c.1823A= (p.Lys608=)
c.1790A= (p.Lys597=)
c.1835A= (p.Lys612=)
17g.746221T>ACA397506297GEMIN4c.1822A>T (p.Lys608Ter)
c.1789A>T (p.Lys597Ter)
c.1834A>T (p.Lys612Ter)
17g.746221T>CCA397506296GEMIN4c.1822A>G (p.Lys608Glu)
c.1789A>G (p.Lys597Glu)
c.1834A>G (p.Lys612Glu)
17g.746221T>GCA397506295GEMIN4c.1822A>C (p.Lys608Gln)
c.1789A>C (p.Lys597Gln)
c.1834A>C (p.Lys612Gln)
17g.746222G>ACA8262541GEMIN4c.1821C>T (p.Leu607=)
c.1788C>T (p.Leu596=)
c.1833C>T (p.Leu611=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746222G>CCA497384043GEMIN4c.1821C>G (p.Leu607=)
c.1788C>G (p.Leu596=)
c.1833C>G (p.Leu611=)
 dbSNP COSMIC COSMIC
17g.746222G=CA2242474612GEMIN4c.1821C= (p.Leu607=)
c.1788C= (p.Leu596=)
c.1833C= (p.Leu611=)
17g.746222G>TCA497384042GEMIN4c.1821C>A (p.Leu607=)
c.1788C>A (p.Leu596=)
c.1833C>A (p.Leu611=)
17g.746222dupCA2635153327GEMIN4c.1821dup (p.Lys608GlnfsTer?)
c.1788dup (p.Lys597GlnfsTer?)
c.1833dup (p.Lys612GlnfsTer?)
 gnomAD v4
17g.746223A>CCA397506298GEMIN4c.1820T>G (p.Leu607Arg)
c.1787T>G (p.Leu596Arg)
c.1832T>G (p.Leu611Arg)
17g.746223A>GCA397506299GEMIN4c.1820T>C (p.Leu607Pro)
c.1787T>C (p.Leu596Pro)
c.1832T>C (p.Leu611Pro)
17g.746223A>TCA397506300GEMIN4c.1820T>A (p.Leu607His)
c.1787T>A (p.Leu596His)
c.1832T>A (p.Leu611His)
 COSMIC COSMIC
17g.746224G>ACA397506301GEMIN4c.1819C>T (p.Leu607Phe)
c.1786C>T (p.Leu596Phe)
c.1831C>T (p.Leu611Phe)
 gnomAD v4
17g.746224G>CCA397506302GEMIN4c.1819C>G (p.Leu607Val)
c.1786C>G (p.Leu596Val)
c.1831C>G (p.Leu611Val)
17g.746224G>TCA397506303GEMIN4c.1819C>A (p.Leu607Ile)
c.1786C>A (p.Leu596Ile)
c.1831C>A (p.Leu611Ile)
17g.746225G>ACA497384059GEMIN4c.1818C>T (p.Cys606=)
c.1785C>T (p.Cys595=)
c.1830C>T (p.Cys610=)
17g.746225G>CCA397506304GEMIN4c.1818C>G (p.Cys606Trp)
c.1785C>G (p.Cys595Trp)
c.1830C>G (p.Cys610Trp)
17g.746225G>TCA397506305GEMIN4c.1818C>A (p.Cys606Ter)
c.1785C>A (p.Cys595Ter)
c.1830C>A (p.Cys610Ter)
17g.746226C>ACA397506306GEMIN4c.1817G>T (p.Cys606Phe)
c.1784G>T (p.Cys595Phe)
c.1829G>T (p.Cys610Phe)
17g.746226C>GCA397506307GEMIN4c.1817G>C (p.Cys606Ser)
c.1784G>C (p.Cys595Ser)
c.1829G>C (p.Cys610Ser)
17g.746226C>TCA397506308GEMIN4c.1817G>A (p.Cys606Tyr)
c.1784G>A (p.Cys595Tyr)
c.1829G>A (p.Cys610Tyr)
17g.746227A>CCA397506310GEMIN4c.1816T>G (p.Cys606Gly)
c.1783T>G (p.Cys595Gly)
c.1828T>G (p.Cys610Gly)
17g.746227A>GCA397506311GEMIN4c.1816T>C (p.Cys606Arg)
c.1783T>C (p.Cys595Arg)
c.1828T>C (p.Cys610Arg)
 gnomAD v4
17g.746227A>TCA397506309GEMIN4c.1816T>A (p.Cys606Ser)
c.1783T>A (p.Cys595Ser)
c.1828T>A (p.Cys610Ser)
17g.746228T>ACA497384066GEMIN4c.1815A>T (p.Ser605=)
c.1782A>T (p.Ser594=)
c.1827A>T (p.Ser609=)
 dbSNP
17g.746228T>CCA497384063GEMIN4c.1815A>G (p.Ser605=)
c.1782A>G (p.Ser594=)
c.1827A>G (p.Ser609=)
17g.746228T>GCA497384064GEMIN4c.1815A>C (p.Ser605=)
c.1782A>C (p.Ser594=)
c.1827A>C (p.Ser609=)
17g.746228T=CA2242474613GEMIN4c.1815A= (p.Ser605=)
c.1782A= (p.Ser594=)
c.1827A= (p.Ser609=)
17g.746229G>ACA397506312GEMIN4c.1814C>T (p.Ser605Leu)
c.1781C>T (p.Ser594Leu)
c.1826C>T (p.Ser609Leu)
17g.746229G>CCA397506313GEMIN4c.1814C>G (p.Ser605Ter)
c.1781C>G (p.Ser594Ter)
c.1826C>G (p.Ser609Ter)
17g.746229G>TCA397506314GEMIN4c.1814C>A (p.Ser605Ter)
c.1781C>A (p.Ser594Ter)
c.1826C>A (p.Ser609Ter)
17g.746230A>CCA397506315GEMIN4c.1813T>G (p.Ser605Ala)
c.1780T>G (p.Ser594Ala)
c.1825T>G (p.Ser609Ala)
17g.746230A>GCA397506316GEMIN4c.1813T>C (p.Ser605Pro)
c.1780T>C (p.Ser594Pro)
c.1825T>C (p.Ser609Pro)
17g.746230A>TCA397506317GEMIN4c.1813T>A (p.Ser605Thr)
c.1780T>A (p.Ser594Thr)
c.1825T>A (p.Ser609Thr)
17g.746231C>ACA497384079GEMIN4c.1812G>T (p.Val604=)
c.1779G>T (p.Val593=)
c.1824G>T (p.Val608=)
17g.746231C=CA2242474614GEMIN4c.1812G= (p.Val604=)
c.1779G= (p.Val593=)
c.1824G= (p.Val608=)
17g.746231C>GCA497384081GEMIN4c.1812G>C (p.Val604=)
c.1779G>C (p.Val593=)
c.1824G>C (p.Val608=)
17g.746231C>TCA497384083GEMIN4c.1812G>A (p.Val604=)
c.1779G>A (p.Val593=)
c.1824G>A (p.Val608=)
 dbSNP gnomAD v2
17g.746232A=CA2242474615GEMIN4c.1811T= (p.Val604=)
c.1778T= (p.Val593=)
c.1823T= (p.Val608=)
17g.746232A>CCA397506318GEMIN4c.1811T>G (p.Val604Gly)
c.1778T>G (p.Val593Gly)
c.1823T>G (p.Val608Gly)
17g.746232A>GCA397506319GEMIN4c.1811T>C (p.Val604Ala)
c.1778T>C (p.Val593Ala)
c.1823T>C (p.Val608Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.746232A>TCA397506320GEMIN4c.1811T>A (p.Val604Glu)
c.1778T>A (p.Val593Glu)
c.1823T>A (p.Val608Glu)
17g.746233C>ACA397506321GEMIN4c.1810G>T (p.Val604Leu)
c.1777G>T (p.Val593Leu)
c.1822G>T (p.Val608Leu)
17g.746233C=CA2242474616GEMIN4c.1810G= (p.Val604=)
c.1777G= (p.Val593=)
c.1822G= (p.Val608=)
17g.746233C>GCA397506322GEMIN4c.1810G>C (p.Val604Leu)
c.1777G>C (p.Val593Leu)
c.1822G>C (p.Val608Leu)
 gnomAD v4
17g.746233C>TCA286713681GEMIN4c.1810G>A (p.Val604Met)
c.1777G>A (p.Val593Met)
c.1822G>A (p.Val608Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746234C>ACA397506324GEMIN4c.1809G>T (p.Met603Ile)
c.1776G>T (p.Met592Ile)
c.1821G>T (p.Met607Ile)
17g.746234C=CA2242474617GEMIN4c.1809G= (p.Met603=)
c.1776G= (p.Met592=)
c.1821G= (p.Met607=)
17g.746234C>GCA397506325GEMIN4c.1809G>C (p.Met603Ile)
c.1776G>C (p.Met592Ile)
c.1821G>C (p.Met607Ile)
 dbSNP
17g.746234C>TCA397506323GEMIN4c.1809G>A (p.Met603Ile)
c.1776G>A (p.Met592Ile)
c.1821G>A (p.Met607Ile)
17g.746235A>CCA397506326GEMIN4c.1808T>G (p.Met603Arg)
c.1775T>G (p.Met592Arg)
c.1820T>G (p.Met607Arg)
17g.746235A>GCA397506327GEMIN4c.1808T>C (p.Met603Thr)
c.1775T>C (p.Met592Thr)
c.1820T>C (p.Met607Thr)
17g.746235A>TCA397506328GEMIN4c.1808T>A (p.Met603Lys)
c.1775T>A (p.Met592Lys)
c.1820T>A (p.Met607Lys)
 gnomAD v4
17g.746236T>ACA397506329GEMIN4c.1807A>T (p.Met603Leu)
c.1774A>T (p.Met592Leu)
c.1819A>T (p.Met607Leu)
17g.746236T>CCA8262542GEMIN4c.1807A>G (p.Met603Val)
c.1774A>G (p.Met592Val)
c.1819A>G (p.Met607Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746236T>GCA397506330GEMIN4c.1807A>C (p.Met603Leu)
c.1774A>C (p.Met592Leu)
c.1819A>C (p.Met607Leu)
 dbSNP gnomAD v4
17g.746236T=CA2242474618GEMIN4c.1807A= (p.Met603=)
c.1774A= (p.Met592=)
c.1819A= (p.Met607=)
17g.746237G>ACA497384095GEMIN4c.1806C>T (p.Phe602=)
c.1773C>T (p.Phe591=)
c.1818C>T (p.Phe606=)
17g.746237G>CCA397506331GEMIN4c.1806C>G (p.Phe602Leu)
c.1773C>G (p.Phe591Leu)
c.1818C>G (p.Phe606Leu)
 gnomAD v4
17g.746237G=CA2242474619GEMIN4c.1806C= (p.Phe602=)
c.1773C= (p.Phe591=)
c.1818C= (p.Phe606=)
17g.746237G>TCA397506332GEMIN4c.1806C>A (p.Phe602Leu)
c.1773C>A (p.Phe591Leu)
c.1818C>A (p.Phe606Leu)
 dbSNP
17g.746238A>CCA397506333GEMIN4c.1805T>G (p.Phe602Cys)
c.1772T>G (p.Phe591Cys)
c.1817T>G (p.Phe606Cys)
17g.746238A>GCA397506334GEMIN4c.1805T>C (p.Phe602Ser)
c.1772T>C (p.Phe591Ser)
c.1817T>C (p.Phe606Ser)
17g.746238A>TCA397506335GEMIN4c.1805T>A (p.Phe602Tyr)
c.1772T>A (p.Phe591Tyr)
c.1817T>A (p.Phe606Tyr)
17g.746239A=CA2242474620GEMIN4c.1804T= (p.Phe602=)
c.1771T= (p.Phe591=)
c.1816T= (p.Phe606=)
17g.746239A>CCA397506336GEMIN4c.1804T>G (p.Phe602Val)
c.1771T>G (p.Phe591Val)
c.1816T>G (p.Phe606Val)
17g.746239A>GCA8262543GEMIN4c.1804T>C (p.Phe602Leu)
c.1771T>C (p.Phe591Leu)
c.1816T>C (p.Phe606Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746239A>TCA397506337GEMIN4c.1804T>A (p.Phe602Ile)
c.1771T>A (p.Phe591Ile)
c.1816T>A (p.Phe606Ile)
17g.746240A>CCA497384098GEMIN4c.1803T>G (p.Thr601=)
c.1770T>G (p.Thr590=)
c.1815T>G (p.Thr605=)
17g.746240A>GCA497384102GEMIN4c.1803T>C (p.Thr601=)
c.1770T>C (p.Thr590=)
c.1815T>C (p.Thr605=)
17g.746240A>TCA497384101GEMIN4c.1803T>A (p.Thr601=)
c.1770T>A (p.Thr590=)
c.1815T>A (p.Thr605=)
17g.746241G>ACA397506339GEMIN4c.1802C>T (p.Thr601Ile)
c.1769C>T (p.Thr590Ile)
c.1814C>T (p.Thr605Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.746241G>CCA286713682GEMIN4c.1802C>G (p.Thr601Ser)
c.1769C>G (p.Thr590Ser)
c.1814C>G (p.Thr605Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746241G=CA2242474621GEMIN4c.1802C= (p.Thr601=)
c.1769C= (p.Thr590=)
c.1814C= (p.Thr605=)
17g.746241G>TCA397506338GEMIN4c.1802C>A (p.Thr601Asn)
c.1769C>A (p.Thr590Asn)
c.1814C>A (p.Thr605Asn)
17g.746242T>ACA397506341GEMIN4c.1801A>T (p.Thr601Ser)
c.1768A>T (p.Thr590Ser)
c.1813A>T (p.Thr605Ser)
17g.746242T>CCA397506340GEMIN4c.1801A>G (p.Thr601Ala)
c.1768A>G (p.Thr590Ala)
c.1813A>G (p.Thr605Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.746242T>GCA397506342GEMIN4c.1801A>C (p.Thr601Pro)
c.1768A>C (p.Thr590Pro)
c.1813A>C (p.Thr605Pro)
17g.746242T=CA2242474622GEMIN4c.1801A= (p.Thr601=)
c.1768A= (p.Thr590=)
c.1813A= (p.Thr605=)
17g.746243G>ACA497384109GEMIN4c.1800C>T (p.Ala600=)
c.1767C>T (p.Ala589=)
c.1812C>T (p.Ala604=)
17g.746243G>CCA497384111GEMIN4c.1800C>G (p.Ala600=)
c.1767C>G (p.Ala589=)
c.1812C>G (p.Ala604=)
17g.746243G>TCA497384112GEMIN4c.1800C>A (p.Ala600=)
c.1767C>A (p.Ala589=)
c.1812C>A (p.Ala604=)
17g.746244G>ACA8262544GEMIN4c.1799C>T (p.Ala600Val)
c.1766C>T (p.Ala589Val)
c.1811C>T (p.Ala604Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746244G>CCA397506344GEMIN4c.1799C>G (p.Ala600Gly)
c.1766C>G (p.Ala589Gly)
c.1811C>G (p.Ala604Gly)
17g.746244G=CA2242474623GEMIN4c.1799C= (p.Ala600=)
c.1766C= (p.Ala589=)
c.1811C= (p.Ala604=)
17g.746244G>TCA397506343GEMIN4c.1799C>A (p.Ala600Asp)
c.1766C>A (p.Ala589Asp)
c.1811C>A (p.Ala604Asp)
17g.746245C>ACA8262545GEMIN4c.1798G>T (p.Ala600Ser)
c.1765G>T (p.Ala589Ser)
c.1810G>T (p.Ala604Ser)
 dbSNP ExAC gnomAD v2
17g.746245C=CA2242474624GEMIN4c.1798G= (p.Ala600=)
c.1765G= (p.Ala589=)
c.1810G= (p.Ala604=)
17g.746245C>GCA8262546GEMIN4c.1798G>C (p.Ala600Pro)
c.1765G>C (p.Ala589Pro)
c.1810G>C (p.Ala604Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746245C>TCA397506345GEMIN4c.1798G>A (p.Ala600Thr)
c.1765G>A (p.Ala589Thr)
c.1810G>A (p.Ala604Thr)
17g.746246A>CCA497384117GEMIN4c.1797T>G (p.Ser599=)
c.1764T>G (p.Ser588=)
c.1809T>G (p.Ser603=)
17g.746246A>GCA497384118GEMIN4c.1797T>C (p.Ser599=)
c.1764T>C (p.Ser588=)
c.1809T>C (p.Ser603=)
17g.746246A>TCA497384119GEMIN4c.1797T>A (p.Ser599=)
c.1764T>A (p.Ser588=)
c.1809T>A (p.Ser603=)
17g.746247G>ACA397506346GEMIN4c.1796C>T (p.Ser599Phe)
c.1763C>T (p.Ser588Phe)
c.1808C>T (p.Ser603Phe)
17g.746247G>CCA397506347GEMIN4c.1796C>G (p.Ser599Cys)
c.1763C>G (p.Ser588Cys)
c.1808C>G (p.Ser603Cys)
 gnomAD v4 COSMIC COSMIC
17g.746247G>TCA397506348GEMIN4c.1796C>A (p.Ser599Tyr)
c.1763C>A (p.Ser588Tyr)
c.1808C>A (p.Ser603Tyr)
 gnomAD v4
17g.746248A=CA2242474625GEMIN4c.1795T= (p.Ser599=)
c.1762T= (p.Ser588=)
c.1807T= (p.Ser603=)
17g.746248A>CCA397506349GEMIN4c.1795T>G (p.Ser599Ala)
c.1762T>G (p.Ser588Ala)
c.1807T>G (p.Ser603Ala)
17g.746248A>GCA397506350GEMIN4c.1795T>C (p.Ser599Pro)
c.1762T>C (p.Ser588Pro)
c.1807T>C (p.Ser603Pro)
 ClinVar dbSNP gnomAD v4
17g.746248A>TCA397506351GEMIN4c.1795T>A (p.Ser599Thr)
c.1762T>A (p.Ser588Thr)
c.1807T>A (p.Ser603Thr)
17g.746249T>ACA497384133GEMIN4c.1794A>T (p.Ser598=)
c.1761A>T (p.Ser587=)
c.1806A>T (p.Ser602=)
17g.746249T>CCA497384135GEMIN4c.1794A>G (p.Ser598=)
c.1761A>G (p.Ser587=)
c.1806A>G (p.Ser602=)
17g.746249T>GCA497384138GEMIN4c.1794A>C (p.Ser598=)
c.1761A>C (p.Ser587=)
c.1806A>C (p.Ser602=)
17g.746250G>ACA397506352GEMIN4c.1793C>T (p.Ser598Leu)
c.1760C>T (p.Ser587Leu)
c.1805C>T (p.Ser602Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746250G>CCA397506353GEMIN4c.1793C>G (p.Ser598Ter)
c.1760C>G (p.Ser587Ter)
c.1805C>G (p.Ser602Ter)
17g.746250G=CA2242474626GEMIN4c.1793C= (p.Ser598=)
c.1760C= (p.Ser587=)
c.1805C= (p.Ser602=)
17g.746250G>TCA397506354GEMIN4c.1793C>A (p.Ser598Ter)
c.1760C>A (p.Ser587Ter)
c.1805C>A (p.Ser602Ter)
17g.746251A>CCA397506357GEMIN4c.1792T>G (p.Ser598Ala)
c.1759T>G (p.Ser587Ala)
c.1804T>G (p.Ser602Ala)
17g.746251A>GCA397506355GEMIN4c.1792T>C (p.Ser598Pro)
c.1759T>C (p.Ser587Pro)
c.1804T>C (p.Ser602Pro)
 gnomAD v4
17g.746251A>TCA397506356GEMIN4c.1792T>A (p.Ser598Thr)
c.1759T>A (p.Ser587Thr)
c.1804T>A (p.Ser602Thr)
17g.746252A>CCA397506358GEMIN4c.1791T>G (p.Asn597Lys)
c.1758T>G (p.Asn586Lys)
c.1803T>G (p.Asn601Lys)
17g.746252A>GCA497384146GEMIN4c.1791T>C (p.Asn597=)
c.1758T>C (p.Asn586=)
c.1803T>C (p.Asn601=)
17g.746252A>TCA397506359GEMIN4c.1791T>A (p.Asn597Lys)
c.1758T>A (p.Asn586Lys)
c.1803T>A (p.Asn601Lys)
17g.746253T>ACA397506360GEMIN4c.1790A>T (p.Asn597Ile)
c.1757A>T (p.Asn586Ile)
c.1802A>T (p.Asn601Ile)
17g.746253T>CCA8262547GEMIN4c.1790A>G (p.Asn597Ser)
c.1757A>G (p.Asn586Ser)
c.1802A>G (p.Asn601Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746253T>GCA397506361GEMIN4c.1790A>C (p.Asn597Thr)
c.1757A>C (p.Asn586Thr)
c.1802A>C (p.Asn601Thr)
17g.746253T=CA2242474627GEMIN4c.1790A= (p.Asn597=)
c.1757A= (p.Asn586=)
c.1802A= (p.Asn601=)

Number of alleles fetched