Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
17g.746305G>ACA397506463GEMIN4c.1738C>T (p.Gln580Ter)
c.1705C>T (p.Gln569Ter)
c.1750C>T (p.Gln584Ter)
17g.746305G>CCA397506464GEMIN4c.1738C>G (p.Gln580Glu)
c.1705C>G (p.Gln569Glu)
c.1750C>G (p.Gln584Glu)
17g.746305G>TCA397506465GEMIN4c.1738C>A (p.Gln580Lys)
c.1705C>A (p.Gln569Lys)
c.1750C>A (p.Gln584Lys)
17g.746306G>ACA497384297GEMIN4c.1737C>T (p.Ala579=)
c.1704C>T (p.Ala568=)
c.1749C>T (p.Ala583=)
17g.746306G>CCA497384298GEMIN4c.1737C>G (p.Ala579=)
c.1704C>G (p.Ala568=)
c.1749C>G (p.Ala583=)
17g.746306G>TCA497384299GEMIN4c.1737C>A (p.Ala579=)
c.1704C>A (p.Ala568=)
c.1749C>A (p.Ala583=)
17g.746307G>ACA397506466GEMIN4c.1736C>T (p.Ala579Val)
c.1703C>T (p.Ala568Val)
c.1748C>T (p.Ala583Val)
 dbSNP
17g.746307G>CCA8262562GEMIN4c.1736C>G (p.Ala579Gly)
c.1703C>G (p.Ala568Gly)
c.1748C>G (p.Ala583Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746307G=CA2242474653GEMIN4c.1736C= (p.Ala579=)
c.1703C= (p.Ala568=)
c.1748C= (p.Ala583=)
17g.746307G>TCA397506467GEMIN4c.1736C>A (p.Ala579Asp)
c.1703C>A (p.Ala568Asp)
c.1748C>A (p.Ala583Asp)
 dbSNP
17g.746308C>ACA397506468GEMIN4c.1735G>T (p.Ala579Ser)
c.1702G>T (p.Ala568Ser)
c.1747G>T (p.Ala583Ser)
17g.746308C>GCA397506469GEMIN4c.1735G>C (p.Ala579Pro)
c.1702G>C (p.Ala568Pro)
c.1747G>C (p.Ala583Pro)
17g.746308C>TCA397506470GEMIN4c.1735G>A (p.Ala579Thr)
c.1702G>A (p.Ala568Thr)
c.1747G>A (p.Ala583Thr)
 gnomAD v4
17g.746309C>ACA497384301GEMIN4c.1734G>T (p.Leu578=)
c.1701G>T (p.Leu567=)
c.1746G>T (p.Leu582=)
17g.746309C>GCA497384304GEMIN4c.1734G>C (p.Leu578=)
c.1701G>C (p.Leu567=)
c.1746G>C (p.Leu582=)
17g.746309C>TCA497384302GEMIN4c.1734G>A (p.Leu578=)
c.1701G>A (p.Leu567=)
c.1746G>A (p.Leu582=)
17g.746310A=CA2242474654GEMIN4c.1733T= (p.Leu578=)
c.1700T= (p.Leu567=)
c.1745T= (p.Leu582=)
17g.746310A>CCA397506471GEMIN4c.1733T>G (p.Leu578Arg)
c.1700T>G (p.Leu567Arg)
c.1745T>G (p.Leu582Arg)
17g.746310A>GCA8262563GEMIN4c.1733T>C (p.Leu578Pro)
c.1700T>C (p.Leu567Pro)
c.1745T>C (p.Leu582Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746310A>TCA397506472GEMIN4c.1733T>A (p.Leu578Gln)
c.1700T>A (p.Leu567Gln)
c.1745T>A (p.Leu582Gln)
17g.746311G>ACA497384307GEMIN4c.1732C>T (p.Leu578=)
c.1699C>T (p.Leu567=)
c.1744C>T (p.Leu582=)
17g.746311G>CCA397506473GEMIN4c.1732C>G (p.Leu578Val)
c.1699C>G (p.Leu567Val)
c.1744C>G (p.Leu582Val)
17g.746311G>TCA397506474GEMIN4c.1732C>A (p.Leu578Met)
c.1699C>A (p.Leu567Met)
c.1744C>A (p.Leu582Met)
17g.746312G>ACA497384308GEMIN4c.1731C>T (p.Phe577=)
c.1698C>T (p.Phe566=)
c.1743C>T (p.Phe581=)
17g.746312G>CCA397506475GEMIN4c.1731C>G (p.Phe577Leu)
c.1698C>G (p.Phe566Leu)
c.1743C>G (p.Phe581Leu)
17g.746312G>TCA397506476GEMIN4c.1731C>A (p.Phe577Leu)
c.1698C>A (p.Phe566Leu)
c.1743C>A (p.Phe581Leu)
17g.746313A>CCA397506479GEMIN4c.1730T>G (p.Phe577Cys)
c.1697T>G (p.Phe566Cys)
c.1742T>G (p.Phe581Cys)
17g.746313A>GCA397506478GEMIN4c.1730T>C (p.Phe577Ser)
c.1697T>C (p.Phe566Ser)
c.1742T>C (p.Phe581Ser)
 gnomAD v4
17g.746313A>TCA397506477GEMIN4c.1730T>A (p.Phe577Tyr)
c.1697T>A (p.Phe566Tyr)
c.1742T>A (p.Phe581Tyr)
17g.746314A>CCA397506480GEMIN4c.1729T>G (p.Phe577Val)
c.1696T>G (p.Phe566Val)
c.1741T>G (p.Phe581Val)
17g.746314A>GCA397506481GEMIN4c.1729T>C (p.Phe577Leu)
c.1696T>C (p.Phe566Leu)
c.1741T>C (p.Phe581Leu)
17g.746314A>TCA397506482GEMIN4c.1729T>A (p.Phe577Ile)
c.1696T>A (p.Phe566Ile)
c.1741T>A (p.Phe581Ile)
17g.746315C>ACA8262564GEMIN4c.1728G>T (p.Lys576Asn)
c.1695G>T (p.Lys565Asn)
c.1740G>T (p.Lys580Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746315C=CA2242474655GEMIN4c.1728G= (p.Lys576=)
c.1695G= (p.Lys565=)
c.1740G= (p.Lys580=)
17g.746315C>GCA397506483GEMIN4c.1728G>C (p.Lys576Asn)
c.1695G>C (p.Lys565Asn)
c.1740G>C (p.Lys580Asn)
17g.746315C>TCA497384314GEMIN4c.1728G>A (p.Lys576=)
c.1695G>A (p.Lys565=)
c.1740G>A (p.Lys580=)
 gnomAD v4
17g.746316T>ACA397506484GEMIN4c.1727A>T (p.Lys576Met)
c.1694A>T (p.Lys565Met)
c.1739A>T (p.Lys580Met)
17g.746316T>CCA8262565GEMIN4c.1727A>G (p.Lys576Arg)
c.1694A>G (p.Lys565Arg)
c.1739A>G (p.Lys580Arg)
 dbSNP ExAC gnomAD v2
17g.746316T>GCA397506485GEMIN4c.1727A>C (p.Lys576Thr)
c.1694A>C (p.Lys565Thr)
c.1739A>C (p.Lys580Thr)
 gnomAD v4
17g.746316T=CA2242474656GEMIN4c.1727A= (p.Lys576=)
c.1694A= (p.Lys565=)
c.1739A= (p.Lys580=)
17g.746317T>ACA397506486GEMIN4c.1726A>T (p.Lys576Ter)
c.1693A>T (p.Lys565Ter)
c.1738A>T (p.Lys580Ter)
 gnomAD v4
17g.746317T>CCA397506487GEMIN4c.1726A>G (p.Lys576Glu)
c.1693A>G (p.Lys565Glu)
c.1738A>G (p.Lys580Glu)
17g.746317T>GCA397506488GEMIN4c.1726A>C (p.Lys576Gln)
c.1693A>C (p.Lys565Gln)
c.1738A>C (p.Lys580Gln)
17g.746318G>ACA497384318GEMIN4c.1725C>T (p.His575=)
c.1692C>T (p.His564=)
c.1737C>T (p.His579=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746318G>CCA397506489GEMIN4c.1725C>G (p.His575Gln)
c.1692C>G (p.His564Gln)
c.1737C>G (p.His579Gln)
 dbSNP gnomAD v4
17g.746318G=CA2242474657GEMIN4c.1725C= (p.His575=)
c.1692C= (p.His564=)
c.1737C= (p.His579=)
17g.746318G>TCA397506490GEMIN4c.1725C>A (p.His575Gln)
c.1692C>A (p.His564Gln)
c.1737C>A (p.His579Gln)
17g.746319T>ACA8262566GEMIN4c.1724A>T (p.His575Leu)
c.1691A>T (p.His564Leu)
c.1736A>T (p.His579Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746319T>CCA397506492GEMIN4c.1724A>G (p.His575Arg)
c.1691A>G (p.His564Arg)
c.1736A>G (p.His579Arg)
17g.746319T>GCA397506491GEMIN4c.1724A>C (p.His575Pro)
c.1691A>C (p.His564Pro)
c.1736A>C (p.His579Pro)
17g.746319T=CA2242474658GEMIN4c.1724A= (p.His575=)
c.1691A= (p.His564=)
c.1736A= (p.His579=)
17g.746320G>ACA397506493GEMIN4c.1723C>T (p.His575Tyr)
c.1690C>T (p.His564Tyr)
c.1735C>T (p.His579Tyr)
17g.746320G>CCA397506494GEMIN4c.1723C>G (p.His575Asp)
c.1690C>G (p.His564Asp)
c.1735C>G (p.His579Asp)
17g.746320G>TCA397506495GEMIN4c.1723C>A (p.His575Asn)
c.1690C>A (p.His564Asn)
c.1735C>A (p.His579Asn)
17g.746322delCA2576107246GEMIN4c.1723del (p.His575ThrfsTer?)
c.1690del (p.His564ThrfsTer?)
c.1735del (p.His579ThrfsTer?)
17g.746321G>ACA497384322GEMIN4c.1722C>T (p.Thr574=)
c.1689C>T (p.Thr563=)
c.1734C>T (p.Thr578=)
17g.746321G>CCA8262567GEMIN4c.1722C>G (p.Thr574=)
c.1689C>G (p.Thr563=)
c.1734C>G (p.Thr578=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746321G=CA2242474659GEMIN4c.1722C= (p.Thr574=)
c.1689C= (p.Thr563=)
c.1734C= (p.Thr578=)
17g.746321G>TCA497384324GEMIN4c.1722C>A (p.Thr574=)
c.1689C>A (p.Thr563=)
c.1734C>A (p.Thr578=)
17g.746322G>ACA397506496GEMIN4c.1721C>T (p.Thr574Ile)
c.1688C>T (p.Thr563Ile)
c.1733C>T (p.Thr578Ile)
 dbSNP gnomAD v4
17g.746322G>CCA397506497GEMIN4c.1721C>G (p.Thr574Ser)
c.1688C>G (p.Thr563Ser)
c.1733C>G (p.Thr578Ser)
17g.746322G=CA2242474660GEMIN4c.1721C= (p.Thr574=)
c.1688C= (p.Thr563=)
c.1733C= (p.Thr578=)
17g.746322G>TCA397506498GEMIN4c.1721C>A (p.Thr574Asn)
c.1688C>A (p.Thr563Asn)
c.1733C>A (p.Thr578Asn)
17g.746323T>ACA397506499GEMIN4c.1720A>T (p.Thr574Ser)
c.1687A>T (p.Thr563Ser)
c.1732A>T (p.Thr578Ser)
17g.746323T>CCA397506500GEMIN4c.1720A>G (p.Thr574Ala)
c.1687A>G (p.Thr563Ala)
c.1732A>G (p.Thr578Ala)
 dbSNP
17g.746323T>GCA397506501GEMIN4c.1720A>C (p.Thr574Pro)
c.1687A>C (p.Thr563Pro)
c.1732A>C (p.Thr578Pro)
17g.746323T=CA2242474661GEMIN4c.1720A= (p.Thr574=)
c.1687A= (p.Thr563=)
c.1732A= (p.Thr578=)
17g.746324G>ACA286713685GEMIN4c.1719C>T (p.Gly573=)
c.1686C>T (p.Gly562=)
c.1731C>T (p.Gly577=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746324G>CCA497384326GEMIN4c.1719C>G (p.Gly573=)
c.1686C>G (p.Gly562=)
c.1731C>G (p.Gly577=)
17g.746324G=CA2242474662GEMIN4c.1719C= (p.Gly573=)
c.1686C= (p.Gly562=)
c.1731C= (p.Gly577=)
17g.746324G>TCA8262568GEMIN4c.1719C>A (p.Gly573=)
c.1686C>A (p.Gly562=)
c.1731C>A (p.Gly577=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746325C>ACA397506503GEMIN4c.1718G>T (p.Gly573Val)
c.1685G>T (p.Gly562Val)
c.1730G>T (p.Gly577Val)
17g.746325C>GCA397506504GEMIN4c.1718G>C (p.Gly573Ala)
c.1685G>C (p.Gly562Ala)
c.1730G>C (p.Gly577Ala)
17g.746325C>TCA397506502GEMIN4c.1718G>A (p.Gly573Asp)
c.1685G>A (p.Gly562Asp)
c.1730G>A (p.Gly577Asp)
17g.746326delCA2733059820GEMIN4c.1718del (p.Gly573AlafsTer?)
c.1685del (p.Gly562AlafsTer?)
c.1730del (p.Gly577AlafsTer?)
 dbSNP
17g.746326C>ACA397506506GEMIN4c.1717G>T (p.Gly573Cys)
c.1684G>T (p.Gly562Cys)
c.1729G>T (p.Gly577Cys)
17g.746326C=CA2242474663GEMIN4c.1717G= (p.Gly573=)
c.1684G= (p.Gly562=)
c.1729G= (p.Gly577=)
17g.746326C>GCA397506505GEMIN4c.1717G>C (p.Gly573Arg)
c.1684G>C (p.Gly562Arg)
c.1729G>C (p.Gly577Arg)
17g.746326C>TCA8262569GEMIN4c.1717G>A (p.Gly573Ser)
c.1684G>A (p.Gly562Ser)
c.1729G>A (p.Gly577Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746327G>ACA8262570GEMIN4c.1716C>T (p.Leu572=)
c.1683C>T (p.Leu561=)
c.1728C>T (p.Leu576=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746327G>CCA497384329GEMIN4c.1716C>G (p.Leu572=)
c.1683C>G (p.Leu561=)
c.1728C>G (p.Leu576=)
17g.746327G=CA2242474664GEMIN4c.1716C= (p.Leu572=)
c.1683C= (p.Leu561=)
c.1728C= (p.Leu576=)
17g.746327G>TCA497384330GEMIN4c.1716C>A (p.Leu572=)
c.1683C>A (p.Leu561=)
c.1728C>A (p.Leu576=)
17g.746328A=CA2242474665GEMIN4c.1715T= (p.Leu572=)
c.1682T= (p.Leu561=)
c.1727T= (p.Leu576=)
17g.746328A>CCA8262572GEMIN4c.1715T>G (p.Leu572Arg)
c.1682T>G (p.Leu561Arg)
c.1727T>G (p.Leu576Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746328A>GCA397506507GEMIN4c.1715T>C (p.Leu572Pro)
c.1682T>C (p.Leu561Pro)
c.1727T>C (p.Leu576Pro)
17g.746328A>TCA397506508GEMIN4c.1715T>A (p.Leu572His)
c.1682T>A (p.Leu561His)
c.1727T>A (p.Leu576His)
17g.746328dupCA8262571GEMIN4c.1715dup (p.Gly573ArgfsTer17)
c.1682dup (p.Gly562ArgfsTer17)
c.1727dup (p.Gly577ArgfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746329G>ACA397506509GEMIN4c.1714C>T (p.Leu572Phe)
c.1681C>T (p.Leu561Phe)
c.1726C>T (p.Leu576Phe)
 gnomAD v4
17g.746329G>CCA397506510GEMIN4c.1714C>G (p.Leu572Val)
c.1681C>G (p.Leu561Val)
c.1726C>G (p.Leu576Val)
 COSMIC COSMIC
17g.746329G>TCA397506511GEMIN4c.1714C>A (p.Leu572Ile)
c.1681C>A (p.Leu561Ile)
c.1726C>A (p.Leu576Ile)
17g.746330A>CCA397506512GEMIN4c.1713T>G (p.Asn571Lys)
c.1680T>G (p.Asn560Lys)
c.1725T>G (p.Asn575Lys)
17g.746330A>GCA497384334GEMIN4c.1713T>C (p.Asn571=)
c.1680T>C (p.Asn560=)
c.1725T>C (p.Asn575=)
17g.746330A>TCA397506513GEMIN4c.1713T>A (p.Asn571Lys)
c.1680T>A (p.Asn560Lys)
c.1725T>A (p.Asn575Lys)
17g.746331T>ACA8262574GEMIN4c.1712A>T (p.Asn571Ile)
c.1679A>T (p.Asn560Ile)
c.1724A>T (p.Asn575Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746331T>CCA8262573GEMIN4c.1712A>G (p.Asn571Ser)
c.1679A>G (p.Asn560Ser)
c.1724A>G (p.Asn575Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746331T>GCA397506514GEMIN4c.1712A>C (p.Asn571Thr)
c.1679A>C (p.Asn560Thr)
c.1724A>C (p.Asn575Thr)
17g.746331T=CA2242474666GEMIN4c.1712A= (p.Asn571=)
c.1679A= (p.Asn560=)
c.1724A= (p.Asn575=)
17g.746332T>ACA397506515GEMIN4c.1711A>T (p.Asn571Tyr)
c.1678A>T (p.Asn560Tyr)
c.1723A>T (p.Asn575Tyr)
17g.746332T>CCA397506516GEMIN4c.1711A>G (p.Asn571Asp)
c.1678A>G (p.Asn560Asp)
c.1723A>G (p.Asn575Asp)
17g.746332T>GCA397506517GEMIN4c.1711A>C (p.Asn571His)
c.1678A>C (p.Asn560His)
c.1723A>C (p.Asn575His)
17g.746333G>ACA497384216GEMIN4c.1710C>T (p.Val570=)
c.1677C>T (p.Val559=)
c.1722C>T (p.Val574=)
 dbSNP gnomAD v3 gnomAD v4
17g.746333G>CCA497384217GEMIN4c.1710C>G (p.Val570=)
c.1677C>G (p.Val559=)
c.1722C>G (p.Val574=)
17g.746333G=CA2242474667GEMIN4c.1710C= (p.Val570=)
c.1677C= (p.Val559=)
c.1722C= (p.Val574=)
17g.746333G>TCA497384219GEMIN4c.1710C>A (p.Val570=)
c.1677C>A (p.Val559=)
c.1722C>A (p.Val574=)
17g.746334A=CA2242474668GEMIN4c.1709T= (p.Val570=)
c.1676T= (p.Val559=)
c.1721T= (p.Val574=)
17g.746334A>CCA397506518GEMIN4c.1709T>G (p.Val570Gly)
c.1676T>G (p.Val559Gly)
c.1721T>G (p.Val574Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.746334A>GCA397506519GEMIN4c.1709T>C (p.Val570Ala)
c.1676T>C (p.Val559Ala)
c.1721T>C (p.Val574Ala)
17g.746334A>TCA397506520GEMIN4c.1709T>A (p.Val570Asp)
c.1676T>A (p.Val559Asp)
c.1721T>A (p.Val574Asp)
17g.746335C>ACA397506521GEMIN4c.1708G>T (p.Val570Phe)
c.1675G>T (p.Val559Phe)
c.1720G>T (p.Val574Phe)
 gnomAD v4
17g.746335C>GCA397506523GEMIN4c.1708G>C (p.Val570Leu)
c.1675G>C (p.Val559Leu)
c.1720G>C (p.Val574Leu)
 dbSNP
17g.746335C>TCA397506522GEMIN4c.1708G>A (p.Val570Ile)
c.1675G>A (p.Val559Ile)
c.1720G>A (p.Val574Ile)
17g.746336C>ACA497384230GEMIN4c.1707G>T (p.Val569=)
c.1674G>T (p.Val558=)
c.1719G>T (p.Val573=)
17g.746336C=CA2242474669GEMIN4c.1707G= (p.Val569=)
c.1674G= (p.Val558=)
c.1719G= (p.Val573=)
17g.746336C>GCA497384228GEMIN4c.1707G>C (p.Val569=)
c.1674G>C (p.Val558=)
c.1719G>C (p.Val573=)
17g.746336C>TCA8262575GEMIN4c.1707G>A (p.Val569=)
c.1674G>A (p.Val558=)
c.1719G>A (p.Val573=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746337A>CCA397506524GEMIN4c.1706T>G (p.Val569Gly)
c.1673T>G (p.Val558Gly)
c.1718T>G (p.Val573Gly)
17g.746337A>GCA397506525GEMIN4c.1706T>C (p.Val569Ala)
c.1673T>C (p.Val558Ala)
c.1718T>C (p.Val573Ala)
17g.746337A>TCA397506526GEMIN4c.1706T>A (p.Val569Glu)
c.1673T>A (p.Val558Glu)
c.1718T>A (p.Val573Glu)
17g.746338C>ACA397506529GEMIN4c.1705G>T (p.Val569Leu)
c.1672G>T (p.Val558Leu)
c.1717G>T (p.Val573Leu)
 COSMIC COSMIC
17g.746338C>GCA397506528GEMIN4c.1705G>C (p.Val569Leu)
c.1672G>C (p.Val558Leu)
c.1717G>C (p.Val573Leu)
17g.746338C>TCA397506527GEMIN4c.1705G>A (p.Val569Met)
c.1672G>A (p.Val558Met)
c.1717G>A (p.Val573Met)
 gnomAD v4
17g.746339A>CCA497384241GEMIN4c.1704T>G (p.Ala568=)
c.1671T>G (p.Ala557=)
c.1716T>G (p.Ala572=)
17g.746339A>GCA497384243GEMIN4c.1704T>C (p.Ala568=)
c.1671T>C (p.Ala557=)
c.1716T>C (p.Ala572=)
17g.746339A>TCA497384244GEMIN4c.1704T>A (p.Ala568=)
c.1671T>A (p.Ala557=)
c.1716T>A (p.Ala572=)
17g.746340G>ACA397506530GEMIN4c.1703C>T (p.Ala568Val)
c.1670C>T (p.Ala557Val)
c.1715C>T (p.Ala572Val)
17g.746340G>CCA397506531GEMIN4c.1703C>G (p.Ala568Gly)
c.1670C>G (p.Ala557Gly)
c.1715C>G (p.Ala572Gly)
17g.746340G>TCA397506532GEMIN4c.1703C>A (p.Ala568Asp)
c.1670C>A (p.Ala557Asp)
c.1715C>A (p.Ala572Asp)
17g.746341C>ACA397506533GEMIN4c.1702G>T (p.Ala568Ser)
c.1669G>T (p.Ala557Ser)
c.1714G>T (p.Ala572Ser)
17g.746341C=CA2242474670GEMIN4c.1702G= (p.Ala568=)
c.1669G= (p.Ala557=)
c.1714G= (p.Ala572=)
17g.746341C>GCA397506534GEMIN4c.1702G>C (p.Ala568Pro)
c.1669G>C (p.Ala557Pro)
c.1714G>C (p.Ala572Pro)
17g.746341C>TCA8262576GEMIN4c.1702G>A (p.Ala568Thr)
c.1669G>A (p.Ala557Thr)
c.1714G>A (p.Ala572Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746342C>ACA497384258GEMIN4c.1701G>T (p.Leu567=)
c.1668G>T (p.Leu556=)
c.1713G>T (p.Leu571=)
17g.746342C=CA2242474671GEMIN4c.1701G= (p.Leu567=)
c.1668G= (p.Leu556=)
c.1713G= (p.Leu571=)
17g.746342C>GCA497384260GEMIN4c.1701G>C (p.Leu567=)
c.1668G>C (p.Leu556=)
c.1713G>C (p.Leu571=)
 gnomAD v4
17g.746342C>TCA497384261GEMIN4c.1701G>A (p.Leu567=)
c.1668G>A (p.Leu556=)
c.1713G>A (p.Leu571=)
 dbSNP gnomAD v2 gnomAD v4
17g.746343A>CCA397506535GEMIN4c.1700T>G (p.Leu567Arg)
c.1667T>G (p.Leu556Arg)
c.1712T>G (p.Leu571Arg)
17g.746343A>GCA397506536GEMIN4c.1700T>C (p.Leu567Pro)
c.1667T>C (p.Leu556Pro)
c.1712T>C (p.Leu571Pro)
17g.746343A>TCA397506537GEMIN4c.1700T>A (p.Leu567Gln)
c.1667T>A (p.Leu556Gln)
c.1712T>A (p.Leu571Gln)
17g.746344G>ACA497384272GEMIN4c.1699C>T (p.Leu567=)
c.1666C>T (p.Leu556=)
c.1711C>T (p.Leu571=)
17g.746344G>CCA397506538GEMIN4c.1699C>G (p.Leu567Val)
c.1666C>G (p.Leu556Val)
c.1711C>G (p.Leu571Val)
 dbSNP gnomAD v2
17g.746344G=CA2242474672GEMIN4c.1699C= (p.Leu567=)
c.1666C= (p.Leu556=)
c.1711C= (p.Leu571=)
17g.746344G>TCA397506539GEMIN4c.1699C>A (p.Leu567Met)
c.1666C>A (p.Leu556Met)
c.1711C>A (p.Leu571Met)
17g.746345G>ACA497384275GEMIN4c.1698C>T (p.Ser566=)
c.1665C>T (p.Ser555=)
c.1710C>T (p.Ser570=)
17g.746345G>CCA397506540GEMIN4c.1698C>G (p.Ser566Arg)
c.1665C>G (p.Ser555Arg)
c.1710C>G (p.Ser570Arg)
17g.746345G>TCA397506541GEMIN4c.1698C>A (p.Ser566Arg)
c.1665C>A (p.Ser555Arg)
c.1710C>A (p.Ser570Arg)
17g.746346C>ACA397506543GEMIN4c.1697G>T (p.Ser566Ile)
c.1664G>T (p.Ser555Ile)
c.1709G>T (p.Ser570Ile)
17g.746346C>GCA397506544GEMIN4c.1697G>C (p.Ser566Thr)
c.1664G>C (p.Ser555Thr)
c.1709G>C (p.Ser570Thr)
17g.746346C>TCA397506542GEMIN4c.1697G>A (p.Ser566Asn)
c.1664G>A (p.Ser555Asn)
c.1709G>A (p.Ser570Asn)
17g.746347T>ACA397506545GEMIN4c.1696A>T (p.Ser566Cys)
c.1663A>T (p.Ser555Cys)
c.1708A>T (p.Ser570Cys)
17g.746347T>CCA397506546GEMIN4c.1696A>G (p.Ser566Gly)
c.1663A>G (p.Ser555Gly)
c.1708A>G (p.Ser570Gly)
 dbSNP
17g.746347T>GCA397506547GEMIN4c.1696A>C (p.Ser566Arg)
c.1663A>C (p.Ser555Arg)
c.1708A>C (p.Ser570Arg)
17g.746347T=CA2242474673GEMIN4c.1696A= (p.Ser566=)
c.1663A= (p.Ser555=)
c.1708A= (p.Ser570=)
17g.746348G>ACA497384283GEMIN4c.1695C>T (p.Cys565=)
c.1662C>T (p.Cys554=)
c.1707C>T (p.Cys569=)
17g.746348G>CCA397506548GEMIN4c.1695C>G (p.Cys565Trp)
c.1662C>G (p.Cys554Trp)
c.1707C>G (p.Cys569Trp)
17g.746348G>TCA397506549GEMIN4c.1695C>A (p.Cys565Ter)
c.1662C>A (p.Cys554Ter)
c.1707C>A (p.Cys569Ter)
17g.746349C>ACA397506552GEMIN4c.1694G>T (p.Cys565Phe)
c.1661G>T (p.Cys554Phe)
c.1706G>T (p.Cys569Phe)
 gnomAD v4
17g.746349C>GCA397506550GEMIN4c.1694G>C (p.Cys565Ser)
c.1661G>C (p.Cys554Ser)
c.1706G>C (p.Cys569Ser)
17g.746349C>TCA397506551GEMIN4c.1694G>A (p.Cys565Tyr)
c.1661G>A (p.Cys554Tyr)
c.1706G>A (p.Cys569Tyr)
17g.746350A>CCA397506553GEMIN4c.1693T>G (p.Cys565Gly)
c.1660T>G (p.Cys554Gly)
c.1705T>G (p.Cys569Gly)
17g.746350A>GCA397506554GEMIN4c.1693T>C (p.Cys565Arg)
c.1660T>C (p.Cys554Arg)
c.1705T>C (p.Cys569Arg)
 COSMIC COSMIC
17g.746350A>TCA397506555GEMIN4c.1693T>A (p.Cys565Ser)
c.1660T>A (p.Cys554Ser)
c.1705T>A (p.Cys569Ser)
17g.746351C>ACA397506556GEMIN4c.1692G>T (p.Met564Ile)
c.1659G>T (p.Met553Ile)
c.1704G>T (p.Met568Ile)
17g.746351C=CA2242474674GEMIN4c.1692G= (p.Met564=)
c.1659G= (p.Met553=)
c.1704G= (p.Met568=)
17g.746351C>GCA397506557GEMIN4c.1692G>C (p.Met564Ile)
c.1659G>C (p.Met553Ile)
c.1704G>C (p.Met568Ile)
 gnomAD v4
17g.746351C>TCA397506558GEMIN4c.1692G>A (p.Met564Ile)
c.1659G>A (p.Met553Ile)
c.1704G>A (p.Met568Ile)
 dbSNP
17g.746352A>CCA397506561GEMIN4c.1691T>G (p.Met564Arg)
c.1658T>G (p.Met553Arg)
c.1703T>G (p.Met568Arg)
17g.746352A>GCA397506560GEMIN4c.1691T>C (p.Met564Thr)
c.1658T>C (p.Met553Thr)
c.1703T>C (p.Met568Thr)
 gnomAD v4
17g.746352A>TCA397506559GEMIN4c.1691T>A (p.Met564Lys)
c.1658T>A (p.Met553Lys)
c.1703T>A (p.Met568Lys)
17g.746353T>ACA397506562GEMIN4c.1690A>T (p.Met564Leu)
c.1657A>T (p.Met553Leu)
c.1702A>T (p.Met568Leu)
17g.746353T>CCA397506563GEMIN4c.1690A>G (p.Met564Val)
c.1657A>G (p.Met553Val)
c.1702A>G (p.Met568Val)
17g.746353T>GCA397506564GEMIN4c.1690A>C (p.Met564Leu)
c.1657A>C (p.Met553Leu)
c.1702A>C (p.Met568Leu)
17g.746354T>ACA397506565GEMIN4c.1689A>T (p.Lys563Asn)
c.1656A>T (p.Lys552Asn)
c.1701A>T (p.Lys567Asn)
17g.746354T>CCA497384296GEMIN4c.1689A>G (p.Lys563=)
c.1656A>G (p.Lys552=)
c.1701A>G (p.Lys567=)
 gnomAD v4
17g.746354T>GCA397506566GEMIN4c.1689A>C (p.Lys563Asn)
c.1656A>C (p.Lys552Asn)
c.1701A>C (p.Lys567Asn)
17g.746355T>ACA397506567GEMIN4c.1688A>T (p.Lys563Ile)
c.1655A>T (p.Lys552Ile)
c.1700A>T (p.Lys567Ile)
17g.746355T>CCA397506568GEMIN4c.1688A>G (p.Lys563Arg)
c.1655A>G (p.Lys552Arg)
c.1700A>G (p.Lys567Arg)
17g.746355T>GCA397506569GEMIN4c.1688A>C (p.Lys563Thr)
c.1655A>C (p.Lys552Thr)
c.1700A>C (p.Lys567Thr)
17g.746356T>ACA397506570GEMIN4c.1687A>T (p.Lys563Ter)
c.1654A>T (p.Lys552Ter)
c.1699A>T (p.Lys567Ter)
 dbSNP gnomAD v4
17g.746356T>CCA397506571GEMIN4c.1687A>G (p.Lys563Glu)
c.1654A>G (p.Lys552Glu)
c.1699A>G (p.Lys567Glu)
17g.746356T>GCA397506572GEMIN4c.1687A>C (p.Lys563Gln)
c.1654A>C (p.Lys552Gln)
c.1699A>C (p.Lys567Gln)
17g.746356T=CA2242474675GEMIN4c.1687A= (p.Lys563=)
c.1654A= (p.Lys552=)
c.1699A= (p.Lys567=)
17g.746357C>ACA397506573GEMIN4c.1686G>T (p.Lys562Asn)
c.1653G>T (p.Lys551Asn)
c.1698G>T (p.Lys566Asn)
17g.746357C>GCA397506574GEMIN4c.1686G>C (p.Lys562Asn)
c.1653G>C (p.Lys551Asn)
c.1698G>C (p.Lys566Asn)
17g.746357C>TCA497384300GEMIN4c.1686G>A (p.Lys562=)
c.1653G>A (p.Lys551=)
c.1698G>A (p.Lys566=)
17g.746358T>ACA397506577GEMIN4c.1685A>T (p.Lys562Met)
c.1652A>T (p.Lys551Met)
c.1697A>T (p.Lys566Met)
17g.746358T>CCA397506575GEMIN4c.1685A>G (p.Lys562Arg)
c.1652A>G (p.Lys551Arg)
c.1697A>G (p.Lys566Arg)
17g.746358T>GCA397506576GEMIN4c.1685A>C (p.Lys562Thr)
c.1652A>C (p.Lys551Thr)
c.1697A>C (p.Lys566Thr)
17g.746359T>ACA397506578GEMIN4c.1684A>T (p.Lys562Ter)
c.1651A>T (p.Lys551Ter)
c.1696A>T (p.Lys566Ter)
17g.746359T>CCA397506579GEMIN4c.1684A>G (p.Lys562Glu)
c.1651A>G (p.Lys551Glu)
c.1696A>G (p.Lys566Glu)
17g.746359T>GCA397506580GEMIN4c.1684A>C (p.Lys562Gln)
c.1651A>C (p.Lys551Gln)
c.1696A>C (p.Lys566Gln)
17g.746360C>ACA497384309GEMIN4c.1683G>T (p.Val561=)
c.1650G>T (p.Val550=)
c.1695G>T (p.Val565=)
17g.746360C=CA2242474676GEMIN4c.1683G= (p.Val561=)
c.1650G= (p.Val550=)
c.1695G= (p.Val565=)
17g.746360C>GCA497384310GEMIN4c.1683G>C (p.Val561=)
c.1650G>C (p.Val550=)
c.1695G>C (p.Val565=)
17g.746360C>TCA497384312GEMIN4c.1683G>A (p.Val561=)
c.1650G>A (p.Val550=)
c.1695G>A (p.Val565=)
 dbSNP gnomAD v3 gnomAD v4
17g.746361A>CCA397506581GEMIN4c.1682T>G (p.Val561Gly)
c.1649T>G (p.Val550Gly)
c.1694T>G (p.Val565Gly)
17g.746361A>GCA397506582GEMIN4c.1682T>C (p.Val561Ala)
c.1649T>C (p.Val550Ala)
c.1694T>C (p.Val565Ala)
17g.746361A>TCA397506583GEMIN4c.1682T>A (p.Val561Glu)
c.1649T>A (p.Val550Glu)
c.1694T>A (p.Val565Glu)
17g.746362C>ACA397506584GEMIN4c.1681G>T (p.Val561Leu)
c.1648G>T (p.Val550Leu)
c.1693G>T (p.Val565Leu)
 gnomAD v4
17g.746362C=CA2242474677GEMIN4c.1681G= (p.Val561=)
c.1648G= (p.Val550=)
c.1693G= (p.Val565=)
17g.746362C>GCA397506585GEMIN4c.1681G>C (p.Val561Leu)
c.1648G>C (p.Val550Leu)
c.1693G>C (p.Val565Leu)
17g.746362C>TCA397506586GEMIN4c.1681G>A (p.Val561Met)
c.1648G>A (p.Val550Met)
c.1693G>A (p.Val565Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746363C>ACA497384316GEMIN4c.1680G>T (p.Thr560=)
c.1647G>T (p.Thr549=)
c.1692G>T (p.Thr564=)
17g.746363C=CA2242474678GEMIN4c.1680G= (p.Thr560=)
c.1647G= (p.Thr549=)
c.1692G= (p.Thr564=)
17g.746363C>GCA497384317GEMIN4c.1680G>C (p.Thr560=)
c.1647G>C (p.Thr549=)
c.1692G>C (p.Thr564=)
17g.746363C>TCA497384315GEMIN4c.1680G>A (p.Thr560=)
c.1647G>A (p.Thr549=)
c.1692G>A (p.Thr564=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746364G>ACA8262577GEMIN4c.1679C>T (p.Thr560Met)
c.1646C>T (p.Thr549Met)
c.1691C>T (p.Thr564Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746364G>CCA397506587GEMIN4c.1679C>G (p.Thr560Arg)
c.1646C>G (p.Thr549Arg)
c.1691C>G (p.Thr564Arg)
17g.746364G=CA2242474679GEMIN4c.1679C= (p.Thr560=)
c.1646C= (p.Thr549=)
c.1691C= (p.Thr564=)
17g.746364G>TCA397506588GEMIN4c.1679C>A (p.Thr560Lys)
c.1646C>A (p.Thr549Lys)
c.1691C>A (p.Thr564Lys)
 gnomAD v4
17g.746365T>ACA397506591GEMIN4c.1678A>T (p.Thr560Ser)
c.1645A>T (p.Thr549Ser)
c.1690A>T (p.Thr564Ser)
17g.746365T>CCA397506590GEMIN4c.1678A>G (p.Thr560Ala)
c.1645A>G (p.Thr549Ala)
c.1690A>G (p.Thr564Ala)
 gnomAD v4
17g.746365T>GCA397506589GEMIN4c.1678A>C (p.Thr560Pro)
c.1645A>C (p.Thr549Pro)
c.1690A>C (p.Thr564Pro)
17g.746365dupCA286713686GEMIN4c.1678dup (p.Thr560AsnfsTer30)
c.1645dup (p.Thr549AsnfsTer30)
c.1690dup (p.Thr564AsnfsTer30)
 dbSNP gnomAD v2 gnomAD v4
17g.746366G>ACA497384320GEMIN4c.1677C>T (p.Val559=)
c.1644C>T (p.Val548=)
c.1689C>T (p.Val563=)
17g.746366G>CCA497384321GEMIN4c.1677C>G (p.Val559=)
c.1644C>G (p.Val548=)
c.1689C>G (p.Val563=)
17g.746366G>TCA497384323GEMIN4c.1677C>A (p.Val559=)
c.1644C>A (p.Val548=)
c.1689C>A (p.Val563=)
17g.746367A>CCA397506594GEMIN4c.1676T>G (p.Val559Gly)
c.1643T>G (p.Val548Gly)
c.1688T>G (p.Val563Gly)
17g.746367A>GCA397506592GEMIN4c.1676T>C (p.Val559Ala)
c.1643T>C (p.Val548Ala)
c.1688T>C (p.Val563Ala)
17g.746367A>TCA397506593GEMIN4c.1676T>A (p.Val559Asp)
c.1643T>A (p.Val548Asp)
c.1688T>A (p.Val563Asp)
17g.746368C>ACA397506595GEMIN4c.1675G>T (p.Val559Phe)
c.1642G>T (p.Val548Phe)
c.1687G>T (p.Val563Phe)
17g.746368C=CA2242474680GEMIN4c.1675G= (p.Val559=)
c.1642G= (p.Val548=)
c.1687G= (p.Val563=)
17g.746368C>GCA397506596GEMIN4c.1675G>C (p.Val559Leu)
c.1642G>C (p.Val548Leu)
c.1687G>C (p.Val563Leu)
17g.746368C>TCA397506597GEMIN4c.1675G>A (p.Val559Ile)
c.1642G>A (p.Val548Ile)
c.1687G>A (p.Val563Ile)
 dbSNP
17g.746369T>ACA8262578GEMIN4c.1674A>T (p.Glu558Asp)
c.1641A>T (p.Glu547Asp)
c.1686A>T (p.Glu562Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746369T>CCA497384327GEMIN4c.1674A>G (p.Glu558=)
c.1641A>G (p.Glu547=)
c.1686A>G (p.Glu562=)
 gnomAD v4
17g.746369T>GCA397506598GEMIN4c.1674A>C (p.Glu558Asp)
c.1641A>C (p.Glu547Asp)
c.1686A>C (p.Glu562Asp)
17g.746369T=CA2242474681GEMIN4c.1674A= (p.Glu558=)
c.1641A= (p.Glu547=)
c.1686A= (p.Glu562=)
17g.746370T>ACA397506599GEMIN4c.1673A>T (p.Glu558Val)
c.1640A>T (p.Glu547Val)
c.1685A>T (p.Glu562Val)
17g.746370T>CCA397506601GEMIN4c.1673A>G (p.Glu558Gly)
c.1640A>G (p.Glu547Gly)
c.1685A>G (p.Glu562Gly)
17g.746370T>GCA397506600GEMIN4c.1673A>C (p.Glu558Ala)
c.1640A>C (p.Glu547Ala)
c.1685A>C (p.Glu562Ala)
17g.746371C>ACA397506602GEMIN4c.1672G>T (p.Glu558Ter)
c.1639G>T (p.Glu547Ter)
c.1684G>T (p.Glu562Ter)
17g.746371C>GCA397506603GEMIN4c.1672G>C (p.Glu558Gln)
c.1639G>C (p.Glu547Gln)
c.1684G>C (p.Glu562Gln)
 gnomAD v4
17g.746371C>TCA397506604GEMIN4c.1672G>A (p.Glu558Lys)
c.1639G>A (p.Glu547Lys)
c.1684G>A (p.Glu562Lys)
17g.746372delCA2635153329GEMIN4c.1672del (p.Glu558LysfsTer4)
c.1639del (p.Glu547LysfsTer4)
c.1684del (p.Glu562LysfsTer4)
 gnomAD v4
17g.746372C>ACA497384331GEMIN4c.1671G>T (p.Pro557=)
c.1638G>T (p.Pro546=)
c.1683G>T (p.Pro561=)
17g.746372C=CA2242474682GEMIN4c.1671G= (p.Pro557=)
c.1638G= (p.Pro546=)
c.1683G= (p.Pro561=)
17g.746372C>GCA497384333GEMIN4c.1671G>C (p.Pro557=)
c.1638G>C (p.Pro546=)
c.1683G>C (p.Pro561=)
17g.746372C>TCA8262579GEMIN4c.1671G>A (p.Pro557=)
c.1638G>A (p.Pro546=)
c.1683G>A (p.Pro561=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746373G>ACA8262580GEMIN4c.1670C>T (p.Pro557Leu)
c.1637C>T (p.Pro546Leu)
c.1682C>T (p.Pro561Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746373G>CCA397506606GEMIN4c.1670C>G (p.Pro557Arg)
c.1637C>G (p.Pro546Arg)
c.1682C>G (p.Pro561Arg)
17g.746373G=CA2242474683GEMIN4c.1670C= (p.Pro557=)
c.1637C= (p.Pro546=)
c.1682C= (p.Pro561=)
17g.746373G>TCA397506605GEMIN4c.1670C>A (p.Pro557Gln)
c.1637C>A (p.Pro546Gln)
c.1682C>A (p.Pro561Gln)
17g.746374G>ACA397506607GEMIN4c.1669C>T (p.Pro557Ser)
c.1636C>T (p.Pro546Ser)
c.1681C>T (p.Pro561Ser)
17g.746374G>CCA397506608GEMIN4c.1669C>G (p.Pro557Ala)
c.1636C>G (p.Pro546Ala)
c.1681C>G (p.Pro561Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.746374G=CA2242474684GEMIN4c.1669C= (p.Pro557=)
c.1636C= (p.Pro546=)
c.1681C= (p.Pro561=)
17g.746374G>TCA397506609GEMIN4c.1669C>A (p.Pro557Thr)
c.1636C>A (p.Pro546Thr)
c.1681C>A (p.Pro561Thr)
17g.746375G>ACA497384337GEMIN4c.1668C>T (p.His556=)
c.1635C>T (p.His545=)
c.1680C>T (p.His560=)
17g.746375G>CCA397506610GEMIN4c.1668C>G (p.His556Gln)
c.1635C>G (p.His545Gln)
c.1680C>G (p.His560Gln)
17g.746375G>TCA397506611GEMIN4c.1668C>A (p.His556Gln)
c.1635C>A (p.His545Gln)
c.1680C>A (p.His560Gln)
17g.746376T>ACA8262582GEMIN4c.1667A>T (p.His556Leu)
c.1634A>T (p.His545Leu)
c.1679A>T (p.His560Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746376T>CCA8262581GEMIN4c.1667A>G (p.His556Arg)
c.1634A>G (p.His545Arg)
c.1679A>G (p.His560Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746376T>GCA397506612GEMIN4c.1667A>C (p.His556Pro)
c.1634A>C (p.His545Pro)
c.1679A>C (p.His560Pro)
17g.746376T=CA2242474685GEMIN4c.1667A= (p.His556=)
c.1634A= (p.His545=)
c.1679A= (p.His560=)

Number of alleles fetched