Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.746170_746180delCA2635153317GEMIN4c.1863_1873del (p.Glu621AspfsTer23)
c.1830_1840del (p.Glu610AspfsTer23)
c.1875_1885del (p.Glu625AspfsTer23)
 gnomAD v4
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=)
17g.746254T>ACA397506362GEMIN4c.1789A>T (p.Asn597Tyr)
c.1756A>T (p.Asn586Tyr)
c.1801A>T (p.Asn601Tyr)
17g.746254T>CCA8262548GEMIN4c.1789A>G (p.Asn597Asp)
c.1756A>G (p.Asn586Asp)
c.1801A>G (p.Asn601Asp)
 dbSNP ExAC gnomAD v2
17g.746254T>GCA397506363GEMIN4c.1789A>C (p.Asn597His)
c.1756A>C (p.Asn586His)
c.1801A>C (p.Asn601His)
17g.746254T=CA2242474628GEMIN4c.1789A= (p.Asn597=)
c.1756A= (p.Asn586=)
c.1801A= (p.Asn601=)
17g.746255G>ACA497384156GEMIN4c.1788C>T (p.Pro596=)
c.1755C>T (p.Pro585=)
c.1800C>T (p.Pro600=)
17g.746255G>CCA497384158GEMIN4c.1788C>G (p.Pro596=)
c.1755C>G (p.Pro585=)
c.1800C>G (p.Pro600=)
17g.746255G>TCA497384161GEMIN4c.1788C>A (p.Pro596=)
c.1755C>A (p.Pro585=)
c.1800C>A (p.Pro600=)
17g.746256G>ACA8262549GEMIN4c.1787C>T (p.Pro596Leu)
c.1754C>T (p.Pro585Leu)
c.1799C>T (p.Pro600Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746256G>CCA397506364GEMIN4c.1787C>G (p.Pro596Arg)
c.1754C>G (p.Pro585Arg)
c.1799C>G (p.Pro600Arg)
17g.746256G=CA2242474629GEMIN4c.1787C= (p.Pro596=)
c.1754C= (p.Pro585=)
c.1799C= (p.Pro600=)
17g.746256G>TCA397506365GEMIN4c.1787C>A (p.Pro596His)
c.1754C>A (p.Pro585His)
c.1799C>A (p.Pro600His)
17g.746257G>ACA397506368GEMIN4c.1786C>T (p.Pro596Ser)
c.1753C>T (p.Pro585Ser)
c.1798C>T (p.Pro600Ser)
17g.746257G>CCA397506367GEMIN4c.1786C>G (p.Pro596Ala)
c.1753C>G (p.Pro585Ala)
c.1798C>G (p.Pro600Ala)
17g.746257G>TCA397506366GEMIN4c.1786C>A (p.Pro596Thr)
c.1753C>A (p.Pro585Thr)
c.1798C>A (p.Pro600Thr)
17g.746258A>CCA497384169GEMIN4c.1785T>G (p.Gly595=)
c.1752T>G (p.Gly584=)
c.1797T>G (p.Gly599=)
17g.746258A>GCA497384170GEMIN4c.1785T>C (p.Gly595=)
c.1752T>C (p.Gly584=)
c.1797T>C (p.Gly599=)
17g.746258A>TCA497384172GEMIN4c.1785T>A (p.Gly595=)
c.1752T>A (p.Gly584=)
c.1797T>A (p.Gly599=)
17g.746259C>ACA397506369GEMIN4c.1784G>T (p.Gly595Val)
c.1751G>T (p.Gly584Val)
c.1796G>T (p.Gly599Val)
17g.746259C>GCA397506370GEMIN4c.1784G>C (p.Gly595Ala)
c.1751G>C (p.Gly584Ala)
c.1796G>C (p.Gly599Ala)
17g.746259C>TCA397506371GEMIN4c.1784G>A (p.Gly595Asp)
c.1751G>A (p.Gly584Asp)
c.1796G>A (p.Gly599Asp)
 gnomAD v4
17g.746260C>ACA397506372GEMIN4c.1783G>T (p.Gly595Cys)
c.1750G>T (p.Gly584Cys)
c.1795G>T (p.Gly599Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.746260C=CA2242474630GEMIN4c.1783G= (p.Gly595=)
c.1750G= (p.Gly584=)
c.1795G= (p.Gly599=)
17g.746260C>GCA397506373GEMIN4c.1783G>C (p.Gly595Arg)
c.1750G>C (p.Gly584Arg)
c.1795G>C (p.Gly599Arg)
17g.746260C>TCA397506374GEMIN4c.1783G>A (p.Gly595Ser)
c.1750G>A (p.Gly584Ser)
c.1795G>A (p.Gly599Ser)
17g.746261C>ACA397506375GEMIN4c.1782G>T (p.Gln594His)
c.1749G>T (p.Gln583His)
c.1794G>T (p.Gln598His)
17g.746261C=CA2242474631GEMIN4c.1782G= (p.Gln594=)
c.1749G= (p.Gln583=)
c.1794G= (p.Gln598=)
17g.746261C>GCA397506376GEMIN4c.1782G>C (p.Gln594His)
c.1749G>C (p.Gln583His)
c.1794G>C (p.Gln598His)
 gnomAD v4
17g.746261C>TCA497384175GEMIN4c.1782G>A (p.Gln594=)
c.1749G>A (p.Gln583=)
c.1794G>A (p.Gln598=)
 dbSNP
17g.746262T>ACA397506377GEMIN4c.1781A>T (p.Gln594Leu)
c.1748A>T (p.Gln583Leu)
c.1793A>T (p.Gln598Leu)
 COSMIC COSMIC
17g.746262T>CCA397506378GEMIN4c.1781A>G (p.Gln594Arg)
c.1748A>G (p.Gln583Arg)
c.1793A>G (p.Gln598Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.746262T>GCA397506379GEMIN4c.1781A>C (p.Gln594Pro)
c.1748A>C (p.Gln583Pro)
c.1793A>C (p.Gln598Pro)
17g.746262T=CA2242474632GEMIN4c.1781A= (p.Gln594=)
c.1748A= (p.Gln583=)
c.1793A= (p.Gln598=)
17g.746263G>ACA397506380GEMIN4c.1780C>T (p.Gln594Ter)
c.1747C>T (p.Gln583Ter)
c.1792C>T (p.Gln598Ter)
 dbSNP
17g.746263G>CCA397506381GEMIN4c.1780C>G (p.Gln594Glu)
c.1747C>G (p.Gln583Glu)
c.1792C>G (p.Gln598Glu)
17g.746263G>TCA397506382GEMIN4c.1780C>A (p.Gln594Lys)
c.1747C>A (p.Gln583Lys)
c.1792C>A (p.Gln598Lys)
17g.746264C>ACA397506383GEMIN4c.1779G>T (p.Glu593Asp)
c.1746G>T (p.Glu582Asp)
c.1791G>T (p.Glu597Asp)
17g.746264C>GCA397506384GEMIN4c.1779G>C (p.Glu593Asp)
c.1746G>C (p.Glu582Asp)
c.1791G>C (p.Glu597Asp)
17g.746264C>TCA497384184GEMIN4c.1779G>A (p.Glu593=)
c.1746G>A (p.Glu582=)
c.1791G>A (p.Glu597=)
17g.746265T>ACA8262550GEMIN4c.1778A>T (p.Glu593Val)
c.1745A>T (p.Glu582Val)
c.1790A>T (p.Glu597Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746265T>CCA397506385GEMIN4c.1778A>G (p.Glu593Gly)
c.1745A>G (p.Glu582Gly)
c.1790A>G (p.Glu597Gly)
17g.746265T>GCA397506386GEMIN4c.1778A>C (p.Glu593Ala)
c.1745A>C (p.Glu582Ala)
c.1790A>C (p.Glu597Ala)
17g.746265T=CA2242474633GEMIN4c.1778A= (p.Glu593=)
c.1745A= (p.Glu582=)
c.1790A= (p.Glu597=)
17g.746266C>ACA397506387GEMIN4c.1777G>T (p.Glu593Ter)
c.1744G>T (p.Glu582Ter)
c.1789G>T (p.Glu597Ter)
17g.746266C=CA2242474634GEMIN4c.1777G= (p.Glu593=)
c.1744G= (p.Glu582=)
c.1789G= (p.Glu597=)
17g.746266C>GCA397506388GEMIN4c.1777G>C (p.Glu593Gln)
c.1744G>C (p.Glu582Gln)
c.1789G>C (p.Glu597Gln)
17g.746266C>TCA8262551GEMIN4c.1777G>A (p.Glu593Lys)
c.1744G>A (p.Glu582Lys)
c.1789G>A (p.Glu597Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746267T>ACA397506389GEMIN4c.1776A>T (p.Glu592Asp)
c.1743A>T (p.Glu581Asp)
c.1788A>T (p.Glu596Asp)
17g.746267T>CCA497384195GEMIN4c.1776A>G (p.Glu592=)
c.1743A>G (p.Glu581=)
c.1788A>G (p.Glu596=)
 gnomAD v4
17g.746267T>GCA397506390GEMIN4c.1776A>C (p.Glu592Asp)
c.1743A>C (p.Glu581Asp)
c.1788A>C (p.Glu596Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.746267T=CA2242474635GEMIN4c.1776A= (p.Glu592=)
c.1743A= (p.Glu581=)
c.1788A= (p.Glu596=)
17g.746268T>ACA397506391GEMIN4c.1775A>T (p.Glu592Val)
c.1742A>T (p.Glu581Val)
c.1787A>T (p.Glu596Val)
17g.746268T>CCA397506392GEMIN4c.1775A>G (p.Glu592Gly)
c.1742A>G (p.Glu581Gly)
c.1787A>G (p.Glu596Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.746268T>GCA397506393GEMIN4c.1775A>C (p.Glu592Ala)
c.1742A>C (p.Glu581Ala)
c.1787A>C (p.Glu596Ala)
17g.746268T=CA2242474636GEMIN4c.1775A= (p.Glu592=)
c.1742A= (p.Glu581=)
c.1787A= (p.Glu596=)
17g.746269C>ACA397506396GEMIN4c.1774G>T (p.Glu592Ter)
c.1741G>T (p.Glu581Ter)
c.1786G>T (p.Glu596Ter)
17g.746269C>GCA397506395GEMIN4c.1774G>C (p.Glu592Gln)
c.1741G>C (p.Glu581Gln)
c.1786G>C (p.Glu596Gln)
17g.746269C>TCA397506394GEMIN4c.1774G>A (p.Glu592Lys)
c.1741G>A (p.Glu581Lys)
c.1786G>A (p.Glu596Lys)
17g.746270delCA2515812502GEMIN4c.1774del (p.Glu592LysfsTer22)
c.1741del (p.Glu581LysfsTer22)
c.1786del (p.Glu596LysfsTer22)
17g.746270C>ACA497384200GEMIN4c.1773G>T (p.Val591=)
c.1740G>T (p.Val580=)
c.1785G>T (p.Val595=)
17g.746270C>GCA497384202GEMIN4c.1773G>C (p.Val591=)
c.1740G>C (p.Val580=)
c.1785G>C (p.Val595=)
17g.746270C>TCA497384203GEMIN4c.1773G>A (p.Val591=)
c.1740G>A (p.Val580=)
c.1785G>A (p.Val595=)
17g.746271A>CCA397506397GEMIN4c.1772T>G (p.Val591Gly)
c.1739T>G (p.Val580Gly)
c.1784T>G (p.Val595Gly)
17g.746271A>GCA397506398GEMIN4c.1772T>C (p.Val591Ala)
c.1739T>C (p.Val580Ala)
c.1784T>C (p.Val595Ala)
17g.746271A>TCA397506399GEMIN4c.1772T>A (p.Val591Glu)
c.1739T>A (p.Val580Glu)
c.1784T>A (p.Val595Glu)
17g.746272C>ACA397506400GEMIN4c.1771G>T (p.Val591Leu)
c.1738G>T (p.Val580Leu)
c.1783G>T (p.Val595Leu)
17g.746272C=CA2242474637GEMIN4c.1771G= (p.Val591=)
c.1738G= (p.Val580=)
c.1783G= (p.Val595=)
17g.746272C>GCA8262553GEMIN4c.1771G>C (p.Val591Leu)
c.1738G>C (p.Val580Leu)
c.1783G>C (p.Val595Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746272C>TCA8262552GEMIN4c.1771G>A (p.Val591Met)
c.1738G>A (p.Val580Met)
c.1783G>A (p.Val595Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746273A>CCA397506401GEMIN4c.1770T>G (p.Phe590Leu)
c.1737T>G (p.Phe579Leu)
c.1782T>G (p.Phe594Leu)
17g.746273A>GCA497384206GEMIN4c.1770T>C (p.Phe590=)
c.1737T>C (p.Phe579=)
c.1782T>C (p.Phe594=)
17g.746273A>TCA397506402GEMIN4c.1770T>A (p.Phe590Leu)
c.1737T>A (p.Phe579Leu)
c.1782T>A (p.Phe594Leu)
17g.746274A>CCA397506403GEMIN4c.1769T>G (p.Phe590Cys)
c.1736T>G (p.Phe579Cys)
c.1781T>G (p.Phe594Cys)
17g.746274A>GCA397506404GEMIN4c.1769T>C (p.Phe590Ser)
c.1736T>C (p.Phe579Ser)
c.1781T>C (p.Phe594Ser)
17g.746274A>TCA397506405GEMIN4c.1769T>A (p.Phe590Tyr)
c.1736T>A (p.Phe579Tyr)
c.1781T>A (p.Phe594Tyr)
17g.746275A=CA2242474638GEMIN4c.1768T= (p.Phe590=)
c.1735T= (p.Phe579=)
c.1780T= (p.Phe594=)
17g.746275A>CCA397506406GEMIN4c.1768T>G (p.Phe590Val)
c.1735T>G (p.Phe579Val)
c.1780T>G (p.Phe594Val)
17g.746275A>GCA397506407GEMIN4c.1768T>C (p.Phe590Leu)
c.1735T>C (p.Phe579Leu)
c.1780T>C (p.Phe594Leu)
17g.746275A>TCA286713683GEMIN4c.1768T>A (p.Phe590Ile)
c.1735T>A (p.Phe579Ile)
c.1780T>A (p.Phe594Ile)
 dbSNP
17g.746276C>ACA397506408GEMIN4c.1767G>T (p.Arg589Ser)
c.1734G>T (p.Arg578Ser)
c.1779G>T (p.Arg593Ser)
 gnomAD v4
17g.746276C=CA2242474639GEMIN4c.1767G= (p.Arg589=)
c.1734G= (p.Arg578=)
c.1779G= (p.Arg593=)
17g.746276C>GCA8262554GEMIN4c.1767G>C (p.Arg589Ser)
c.1734G>C (p.Arg578Ser)
c.1779G>C (p.Arg593Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746276C>TCA497384212GEMIN4c.1767G>A (p.Arg589=)
c.1734G>A (p.Arg578=)
c.1779G>A (p.Arg593=)
 gnomAD v4
17g.746277C>ACA397506409GEMIN4c.1766G>T (p.Arg589Met)
c.1733G>T (p.Arg578Met)
c.1778G>T (p.Arg593Met)
17g.746277C>GCA397506410GEMIN4c.1766G>C (p.Arg589Thr)
c.1733G>C (p.Arg578Thr)
c.1778G>C (p.Arg593Thr)
17g.746277C>TCA397506411GEMIN4c.1766G>A (p.Arg589Lys)
c.1733G>A (p.Arg578Lys)
c.1778G>A (p.Arg593Lys)
17g.746278T>ACA397506412GEMIN4c.1765A>T (p.Arg589Trp)
c.1732A>T (p.Arg578Trp)
c.1777A>T (p.Arg593Trp)
 gnomAD v4
17g.746278T>CCA397506413GEMIN4c.1765A>G (p.Arg589Gly)
c.1732A>G (p.Arg578Gly)
c.1777A>G (p.Arg593Gly)
17g.746278T>GCA497384223GEMIN4c.1765A>C (p.Arg589=)
c.1732A>C (p.Arg578=)
c.1777A>C (p.Arg593=)

Number of alleles fetched