Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
17g.746279A>CCA497384224GEMIN4c.1764T>G (p.Leu588=)
c.1731T>G (p.Leu577=)
c.1776T>G (p.Leu592=)
17g.746279A>GCA497384226GEMIN4c.1764T>C (p.Leu588=)
c.1731T>C (p.Leu577=)
c.1776T>C (p.Leu592=)
17g.746279A>TCA497384227GEMIN4c.1764T>A (p.Leu588=)
c.1731T>A (p.Leu577=)
c.1776T>A (p.Leu592=)
17g.746280A>CCA397506416GEMIN4c.1763T>G (p.Leu588Arg)
c.1730T>G (p.Leu577Arg)
c.1775T>G (p.Leu592Arg)
17g.746280A>GCA397506415GEMIN4c.1763T>C (p.Leu588Pro)
c.1730T>C (p.Leu577Pro)
c.1775T>C (p.Leu592Pro)
17g.746280A>TCA397506414GEMIN4c.1763T>A (p.Leu588His)
c.1730T>A (p.Leu577His)
c.1775T>A (p.Leu592His)
17g.746281G>ACA8262555GEMIN4c.1762C>T (p.Leu588Phe)
c.1729C>T (p.Leu577Phe)
c.1774C>T (p.Leu592Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746281G>CCA397506417GEMIN4c.1762C>G (p.Leu588Val)
c.1729C>G (p.Leu577Val)
c.1774C>G (p.Leu592Val)
17g.746281G=CA2242474640GEMIN4c.1762C= (p.Leu588=)
c.1729C= (p.Leu577=)
c.1774C= (p.Leu592=)
17g.746281G>TCA397506418GEMIN4c.1762C>A (p.Leu588Ile)
c.1729C>A (p.Leu577Ile)
c.1774C>A (p.Leu592Ile)
17g.746282G>ACA497384236GEMIN4c.1761C>T (p.Ala587=)
c.1728C>T (p.Ala576=)
c.1773C>T (p.Ala591=)
 dbSNP
17g.746282G>CCA497384237GEMIN4c.1761C>G (p.Ala587=)
c.1728C>G (p.Ala576=)
c.1773C>G (p.Ala591=)
17g.746282G=CA2242474641GEMIN4c.1761C= (p.Ala587=)
c.1728C= (p.Ala576=)
c.1773C= (p.Ala591=)
17g.746282G>TCA497384239GEMIN4c.1761C>A (p.Ala587=)
c.1728C>A (p.Ala576=)
c.1773C>A (p.Ala591=)
17g.746283G>ACA397506419GEMIN4c.1760C>T (p.Ala587Val)
c.1727C>T (p.Ala576Val)
c.1772C>T (p.Ala591Val)
 dbSNP gnomAD v3 gnomAD v4
17g.746283G>CCA397506420GEMIN4c.1760C>G (p.Ala587Gly)
c.1727C>G (p.Ala576Gly)
c.1772C>G (p.Ala591Gly)
17g.746283G=CA2242474642GEMIN4c.1760C= (p.Ala587=)
c.1727C= (p.Ala576=)
c.1772C= (p.Ala591=)
17g.746283G>TCA397506421GEMIN4c.1760C>A (p.Ala587Asp)
c.1727C>A (p.Ala576Asp)
c.1772C>A (p.Ala591Asp)
17g.746284C>ACA397506422GEMIN4c.1759G>T (p.Ala587Ser)
c.1726G>T (p.Ala576Ser)
c.1771G>T (p.Ala591Ser)
17g.746284C>GCA397506424GEMIN4c.1759G>C (p.Ala587Pro)
c.1726G>C (p.Ala576Pro)
c.1771G>C (p.Ala591Pro)
17g.746284C>TCA397506423GEMIN4c.1759G>A (p.Ala587Thr)
c.1726G>A (p.Ala576Thr)
c.1771G>A (p.Ala591Thr)
17g.746285A>CCA497384251GEMIN4c.1758T>G (p.Pro586=)
c.1725T>G (p.Pro575=)
c.1770T>G (p.Pro590=)
17g.746285A>GCA497384249GEMIN4c.1758T>C (p.Pro586=)
c.1725T>C (p.Pro575=)
c.1770T>C (p.Pro590=)
17g.746285A>TCA497384246GEMIN4c.1758T>A (p.Pro586=)
c.1725T>A (p.Pro575=)
c.1770T>A (p.Pro590=)
17g.746286G>ACA397506425GEMIN4c.1757C>T (p.Pro586Leu)
c.1724C>T (p.Pro575Leu)
c.1769C>T (p.Pro590Leu)
 gnomAD v4
17g.746286G>CCA397506426GEMIN4c.1757C>G (p.Pro586Arg)
c.1724C>G (p.Pro575Arg)
c.1769C>G (p.Pro590Arg)
17g.746286G>TCA397506427GEMIN4c.1757C>A (p.Pro586His)
c.1724C>A (p.Pro575His)
c.1769C>A (p.Pro590His)
17g.746287G>ACA397506428GEMIN4c.1756C>T (p.Pro586Ser)
c.1723C>T (p.Pro575Ser)
c.1768C>T (p.Pro590Ser)
17g.746287G>CCA8262556GEMIN4c.1756C>G (p.Pro586Ala)
c.1723C>G (p.Pro575Ala)
c.1768C>G (p.Pro590Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746287G=CA2242474643GEMIN4c.1756C= (p.Pro586=)
c.1723C= (p.Pro575=)
c.1768C= (p.Pro590=)
17g.746287G>TCA397506429GEMIN4c.1756C>A (p.Pro586Thr)
c.1723C>A (p.Pro575Thr)
c.1768C>A (p.Pro590Thr)
17g.746288G>ACA497384257GEMIN4c.1755C>T (p.Phe585=)
c.1722C>T (p.Phe574=)
c.1767C>T (p.Phe589=)
 gnomAD v4
17g.746288G>CCA397506430GEMIN4c.1755C>G (p.Phe585Leu)
c.1722C>G (p.Phe574Leu)
c.1767C>G (p.Phe589Leu)
17g.746288G>TCA397506431GEMIN4c.1755C>A (p.Phe585Leu)
c.1722C>A (p.Phe574Leu)
c.1767C>A (p.Phe589Leu)
17g.746289A=CA2242474644GEMIN4c.1754T= (p.Phe585=)
c.1721T= (p.Phe574=)
c.1766T= (p.Phe589=)
17g.746289A>CCA397506432GEMIN4c.1754T>G (p.Phe585Cys)
c.1721T>G (p.Phe574Cys)
c.1766T>G (p.Phe589Cys)
17g.746289A>GCA286713684GEMIN4c.1754T>C (p.Phe585Ser)
c.1721T>C (p.Phe574Ser)
c.1766T>C (p.Phe589Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.746289A>TCA397506433GEMIN4c.1754T>A (p.Phe585Tyr)
c.1721T>A (p.Phe574Tyr)
c.1766T>A (p.Phe589Tyr)
17g.746290_746301delCA2576107245GEMIN4c.1743_1754del (p.Leu582_Phe585del)
c.1710_1721del (p.Leu571_Phe574del)
c.1755_1766del (p.Leu586_Phe589del)
17g.746290A=CA2242474646GEMIN4c.1753T= (p.Phe585=)
c.1720T= (p.Phe574=)
c.1765T= (p.Phe589=)
17g.746290A>CCA397506436GEMIN4c.1753T>G (p.Phe585Val)
c.1720T>G (p.Phe574Val)
c.1765T>G (p.Phe589Val)
 gnomAD v4
17g.746290A>GCA397506435GEMIN4c.1753T>C (p.Phe585Leu)
c.1720T>C (p.Phe574Leu)
c.1765T>C (p.Phe589Leu)
 dbSNP gnomAD v4
17g.746290A>TCA397506434GEMIN4c.1753T>A (p.Phe585Ile)
c.1720T>A (p.Phe574Ile)
c.1765T>A (p.Phe589Ile)
17g.746290_746291delinsAGCA2242474645GEMIN4c.1752_1753delinsCT (p.Ala584=)
c.1719_1720delinsCT (p.Ala573=)
c.1764_1765delinsCT (p.Ala588=)
17g.746291G>ACA497384269GEMIN4c.1752C>T (p.Ala584=)
c.1719C>T (p.Ala573=)
c.1764C>T (p.Ala588=)
17g.746291G>CCA497384270GEMIN4c.1752C>G (p.Ala584=)
c.1719C>G (p.Ala573=)
c.1764C>G (p.Ala588=)
17g.746291G>TCA497384268GEMIN4c.1752C>A (p.Ala584=)
c.1719C>A (p.Ala573=)
c.1764C>A (p.Ala588=)
17g.746292delCA624456782GEMIN4c.1752del (p.Phe585SerfsTer29)
c.1719del (p.Phe574SerfsTer29)
c.1764del (p.Phe589SerfsTer29)
 dbSNP gnomAD v2 gnomAD v4
17g.746292G>ACA397506437GEMIN4c.1751C>T (p.Ala584Val)
c.1718C>T (p.Ala573Val)
c.1763C>T (p.Ala588Val)
17g.746292G>CCA397506438GEMIN4c.1751C>G (p.Ala584Gly)
c.1718C>G (p.Ala573Gly)
c.1763C>G (p.Ala588Gly)
17g.746292G>TCA397506439GEMIN4c.1751C>A (p.Ala584Asp)
c.1718C>A (p.Ala573Asp)
c.1763C>A (p.Ala588Asp)
 gnomAD v4
17g.746292_746293delinsGCCA2242474647GEMIN4c.1750_1751delinsGC (p.Ala584=)
c.1717_1718delinsGC (p.Ala573=)
c.1762_1763delinsGC (p.Ala588=)
17g.746293delCA8262557GEMIN4c.1750del (p.Ala584ProfsTer30)
c.1717del (p.Ala573ProfsTer30)
c.1762del (p.Ala588ProfsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746293C>ACA397506440GEMIN4c.1750G>T (p.Ala584Ser)
c.1717G>T (p.Ala573Ser)
c.1762G>T (p.Ala588Ser)
17g.746293C>GCA397506441GEMIN4c.1750G>C (p.Ala584Pro)
c.1717G>C (p.Ala573Pro)
c.1762G>C (p.Ala588Pro)
 gnomAD v4
17g.746293C>TCA397506442GEMIN4c.1750G>A (p.Ala584Thr)
c.1717G>A (p.Ala573Thr)
c.1762G>A (p.Ala588Thr)
17g.746294A>CCA497384278GEMIN4c.1749T>G (p.Thr583=)
c.1716T>G (p.Thr572=)
c.1761T>G (p.Thr587=)
17g.746294A>GCA497384279GEMIN4c.1749T>C (p.Thr583=)
c.1716T>C (p.Thr572=)
c.1761T>C (p.Thr587=)
17g.746294A>TCA497384281GEMIN4c.1749T>A (p.Thr583=)
c.1716T>A (p.Thr572=)
c.1761T>A (p.Thr587=)
17g.746295G>ACA8262558GEMIN4c.1748C>T (p.Thr583Ile)
c.1715C>T (p.Thr572Ile)
c.1760C>T (p.Thr587Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746295G>CCA397506443GEMIN4c.1748C>G (p.Thr583Ser)
c.1715C>G (p.Thr572Ser)
c.1760C>G (p.Thr587Ser)
 gnomAD v4
17g.746295G=CA2242474648GEMIN4c.1748C= (p.Thr583=)
c.1715C= (p.Thr572=)
c.1760C= (p.Thr587=)
17g.746295G>TCA397506444GEMIN4c.1748C>A (p.Thr583Asn)
c.1715C>A (p.Thr572Asn)
c.1760C>A (p.Thr587Asn)
17g.746296T>ACA397506445GEMIN4c.1747A>T (p.Thr583Ser)
c.1714A>T (p.Thr572Ser)
c.1759A>T (p.Thr587Ser)
17g.746296T>CCA397506446GEMIN4c.1747A>G (p.Thr583Ala)
c.1714A>G (p.Thr572Ala)
c.1759A>G (p.Thr587Ala)
17g.746296T>GCA397506447GEMIN4c.1747A>C (p.Thr583Pro)
c.1714A>C (p.Thr572Pro)
c.1759A>C (p.Thr587Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.746296T=CA2242474649GEMIN4c.1747A= (p.Thr583=)
c.1714A= (p.Thr572=)
c.1759A= (p.Thr587=)
17g.746297G>ACA497384288GEMIN4c.1746C>T (p.Leu582=)
c.1713C>T (p.Leu571=)
c.1758C>T (p.Leu586=)
 gnomAD v4
17g.746297G>CCA497384290GEMIN4c.1746C>G (p.Leu582=)
c.1713C>G (p.Leu571=)
c.1758C>G (p.Leu586=)
 gnomAD v4 COSMIC COSMIC
17g.746297G>TCA497384291GEMIN4c.1746C>A (p.Leu582=)
c.1713C>A (p.Leu571=)
c.1758C>A (p.Leu586=)
17g.746298A>CCA397506450GEMIN4c.1745T>G (p.Leu582Arg)
c.1712T>G (p.Leu571Arg)
c.1757T>G (p.Leu586Arg)
17g.746298A>GCA397506449GEMIN4c.1745T>C (p.Leu582Pro)
c.1712T>C (p.Leu571Pro)
c.1757T>C (p.Leu586Pro)
17g.746298A>TCA397506448GEMIN4c.1745T>A (p.Leu582His)
c.1712T>A (p.Leu571His)
c.1757T>A (p.Leu586His)
17g.746299G>ACA397506451GEMIN4c.1744C>T (p.Leu582Phe)
c.1711C>T (p.Leu571Phe)
c.1756C>T (p.Leu586Phe)
 gnomAD v4
17g.746299G>CCA8262559GEMIN4c.1744C>G (p.Leu582Val)
c.1711C>G (p.Leu571Val)
c.1756C>G (p.Leu586Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746299G=CA2242474650GEMIN4c.1744C= (p.Leu582=)
c.1711C= (p.Leu571=)
c.1756C= (p.Leu586=)
17g.746299G>TCA397506452GEMIN4c.1744C>A (p.Leu582Ile)
c.1711C>A (p.Leu571Ile)
c.1756C>A (p.Leu586Ile)
17g.746300A=CA2242474651GEMIN4c.1743T= (p.Ile581=)
c.1710T= (p.Ile570=)
c.1755T= (p.Ile585=)
17g.746300A>CCA397506453GEMIN4c.1743T>G (p.Ile581Met)
c.1710T>G (p.Ile570Met)
c.1755T>G (p.Ile585Met)
17g.746300A>GCA497384293GEMIN4c.1743T>C (p.Ile581=)
c.1710T>C (p.Ile570=)
c.1755T>C (p.Ile585=)
17g.746300A>TCA497384294GEMIN4c.1743T>A (p.Ile581=)
c.1710T>A (p.Ile570=)
c.1755T>A (p.Ile585=)
 dbSNP
17g.746301A>CCA397506456GEMIN4c.1742T>G (p.Ile581Ser)
c.1709T>G (p.Ile570Ser)
c.1754T>G (p.Ile585Ser)
17g.746301A>GCA397506454GEMIN4c.1742T>C (p.Ile581Thr)
c.1709T>C (p.Ile570Thr)
c.1754T>C (p.Ile585Thr)
17g.746301A>TCA397506455GEMIN4c.1742T>A (p.Ile581Asn)
c.1709T>A (p.Ile570Asn)
c.1754T>A (p.Ile585Asn)
17g.746302T>ACA397506457GEMIN4c.1741A>T (p.Ile581Phe)
c.1708A>T (p.Ile570Phe)
c.1753A>T (p.Ile585Phe)
 gnomAD v4
17g.746302T>CCA397506458GEMIN4c.1741A>G (p.Ile581Val)
c.1708A>G (p.Ile570Val)
c.1753A>G (p.Ile585Val)
17g.746302T>GCA397506459GEMIN4c.1741A>C (p.Ile581Leu)
c.1708A>C (p.Ile570Leu)
c.1753A>C (p.Ile585Leu)
17g.746303_746304insAGTCCA2635153328GEMIN4c.1741_1742insCTGA (p.Ile581ThrfsTer10)
c.1708_1709insCTGA (p.Ile570ThrfsTer10)
c.1753_1754insCTGA (p.Ile585ThrfsTer10)
 gnomAD v4
17g.746303C>ACA397506460GEMIN4c.1740G>T (p.Gln580His)
c.1707G>T (p.Gln569His)
c.1752G>T (p.Gln584His)
17g.746303C>GCA397506461GEMIN4c.1740G>C (p.Gln580His)
c.1707G>C (p.Gln569His)
c.1752G>C (p.Gln584His)
 COSMIC COSMIC
17g.746303C>TCA497384295GEMIN4c.1740G>A (p.Gln580=)
c.1707G>A (p.Gln569=)
c.1752G>A (p.Gln584=)
17g.746304T>ACA397506462GEMIN4c.1739A>T (p.Gln580Leu)
c.1706A>T (p.Gln569Leu)
c.1751A>T (p.Gln584Leu)
17g.746304T>CCA8262561GEMIN4c.1739A>G (p.Gln580Arg)
c.1706A>G (p.Gln569Arg)
c.1751A>G (p.Gln584Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746304T>GCA8262560GEMIN4c.1739A>C (p.Gln580Pro)
c.1706A>C (p.Gln569Pro)
c.1751A>C (p.Gln584Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.746304T=CA2242474652GEMIN4c.1739A= (p.Gln580=)
c.1706A= (p.Gln569=)
c.1751A= (p.Gln584=)

Number of alleles fetched