Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
17g.746377G>ACA397506613GEMIN4c.1666C>T (p.His556Tyr)
c.1633C>T (p.His545Tyr)
c.1678C>T (p.His560Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746377G>CCA397506614GEMIN4c.1666C>G (p.His556Asp)
c.1633C>G (p.His545Asp)
c.1678C>G (p.His560Asp)
17g.746377G=CA2242474686GEMIN4c.1666C= (p.His556=)
c.1633C= (p.His545=)
c.1678C= (p.His560=)
17g.746377G>TCA397506615GEMIN4c.1666C>A (p.His556Asn)
c.1633C>A (p.His545Asn)
c.1678C>A (p.His560Asn)
17g.746378C>ACA497384339GEMIN4c.1665G>T (p.Val555=)
c.1632G>T (p.Val544=)
c.1677G>T (p.Val559=)
17g.746378C=CA2242474687GEMIN4c.1665G= (p.Val555=)
c.1632G= (p.Val544=)
c.1677G= (p.Val559=)
17g.746378C>GCA497384341GEMIN4c.1665G>C (p.Val555=)
c.1632G>C (p.Val544=)
c.1677G>C (p.Val559=)
17g.746378C>TCA8262583GEMIN4c.1665G>A (p.Val555=)
c.1632G>A (p.Val544=)
c.1677G>A (p.Val559=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746379A=CA2242474688GEMIN4c.1664T= (p.Val555=)
c.1631T= (p.Val544=)
c.1676T= (p.Val559=)
17g.746379A>CCA397506618GEMIN4c.1664T>G (p.Val555Gly)
c.1631T>G (p.Val544Gly)
c.1676T>G (p.Val559Gly)
17g.746379A>GCA397506617GEMIN4c.1664T>C (p.Val555Ala)
c.1631T>C (p.Val544Ala)
c.1676T>C (p.Val559Ala)
 dbSNP gnomAD v4
17g.746379A>TCA397506616GEMIN4c.1664T>A (p.Val555Glu)
c.1631T>A (p.Val544Glu)
c.1676T>A (p.Val559Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.746380C>ACA397506619GEMIN4c.1663G>T (p.Val555Leu)
c.1630G>T (p.Val544Leu)
c.1675G>T (p.Val559Leu)
17g.746380C>GCA397506620GEMIN4c.1663G>C (p.Val555Leu)
c.1630G>C (p.Val544Leu)
c.1675G>C (p.Val559Leu)
17g.746380C>TCA397506621GEMIN4c.1663G>A (p.Val555Met)
c.1630G>A (p.Val544Met)
c.1675G>A (p.Val559Met)
17g.746381T>ACA497384342GEMIN4c.1662A>T (p.Ile554=)
c.1629A>T (p.Ile543=)
c.1674A>T (p.Ile558=)
17g.746381T>CCA8262584GEMIN4c.1662A>G (p.Ile554Met)
c.1629A>G (p.Ile543Met)
c.1674A>G (p.Ile558Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746381T>GCA497384344GEMIN4c.1662A>C (p.Ile554=)
c.1629A>C (p.Ile543=)
c.1674A>C (p.Ile558=)
17g.746381T=CA2242474689GEMIN4c.1662A= (p.Ile554=)
c.1629A= (p.Ile543=)
c.1674A= (p.Ile558=)
17g.746382A>CCA397506622GEMIN4c.1661T>G (p.Ile554Arg)
c.1628T>G (p.Ile543Arg)
c.1673T>G (p.Ile558Arg)
17g.746382A>GCA397506623GEMIN4c.1661T>C (p.Ile554Thr)
c.1628T>C (p.Ile543Thr)
c.1673T>C (p.Ile558Thr)
 gnomAD v4
17g.746382A>TCA397506624GEMIN4c.1661T>A (p.Ile554Lys)
c.1628T>A (p.Ile543Lys)
c.1673T>A (p.Ile558Lys)
17g.746383T>ACA397506627GEMIN4c.1660A>T (p.Ile554Leu)
c.1627A>T (p.Ile543Leu)
c.1672A>T (p.Ile558Leu)
17g.746383T>CCA397506625GEMIN4c.1660A>G (p.Ile554Val)
c.1627A>G (p.Ile543Val)
c.1672A>G (p.Ile558Val)
 gnomAD v4
17g.746383T>GCA397506626GEMIN4c.1660A>C (p.Ile554Leu)
c.1627A>C (p.Ile543Leu)
c.1672A>C (p.Ile558Leu)
17g.746384G>ACA497384347GEMIN4c.1659C>T (p.Val553=)
c.1626C>T (p.Val542=)
c.1671C>T (p.Val557=)
 COSMIC COSMIC
17g.746384G>CCA497384348GEMIN4c.1659C>G (p.Val553=)
c.1626C>G (p.Val542=)
c.1671C>G (p.Val557=)
17g.746384G>TCA497384349GEMIN4c.1659C>A (p.Val553=)
c.1626C>A (p.Val542=)
c.1671C>A (p.Val557=)
 gnomAD v4
17g.746385A>CCA397506628GEMIN4c.1658T>G (p.Val553Gly)
c.1625T>G (p.Val542Gly)
c.1670T>G (p.Val557Gly)
17g.746385A>GCA397506629GEMIN4c.1658T>C (p.Val553Ala)
c.1625T>C (p.Val542Ala)
c.1670T>C (p.Val557Ala)
17g.746385A>TCA397506630GEMIN4c.1658T>A (p.Val553Asp)
c.1625T>A (p.Val542Asp)
c.1670T>A (p.Val557Asp)
17g.746386C>ACA397506631GEMIN4c.1657G>T (p.Val553Phe)
c.1624G>T (p.Val542Phe)
c.1669G>T (p.Val557Phe)
17g.746386C>GCA397506632GEMIN4c.1657G>C (p.Val553Leu)
c.1624G>C (p.Val542Leu)
c.1669G>C (p.Val557Leu)
 gnomAD v4
17g.746386C>TCA397506633GEMIN4c.1657G>A (p.Val553Ile)
c.1624G>A (p.Val542Ile)
c.1669G>A (p.Val557Ile)
17g.746387C>ACA497384350GEMIN4c.1656G>T (p.Leu552=)
c.1623G>T (p.Leu541=)
c.1668G>T (p.Leu556=)
17g.746387C>GCA497384351GEMIN4c.1656G>C (p.Leu552=)
c.1623G>C (p.Leu541=)
c.1668G>C (p.Leu556=)
17g.746387C>TCA497384352GEMIN4c.1656G>A (p.Leu552=)
c.1623G>A (p.Leu541=)
c.1668G>A (p.Leu556=)
17g.746388A=CA2242474690GEMIN4c.1655T= (p.Leu552=)
c.1622T= (p.Leu541=)
c.1667T= (p.Leu556=)
17g.746388A>CCA397506634GEMIN4c.1655T>G (p.Leu552Arg)
c.1622T>G (p.Leu541Arg)
c.1667T>G (p.Leu556Arg)
17g.746388A>GCA397506636GEMIN4c.1655T>C (p.Leu552Pro)
c.1622T>C (p.Leu541Pro)
c.1667T>C (p.Leu556Pro)
17g.746388A>TCA397506635GEMIN4c.1655T>A (p.Leu552Gln)
c.1622T>A (p.Leu541Gln)
c.1667T>A (p.Leu556Gln)
17g.746389G>ACA497384356GEMIN4c.1654C>T (p.Leu552=)
c.1621C>T (p.Leu541=)
c.1666C>T (p.Leu556=)
 gnomAD v4
17g.746389G>CCA397506637GEMIN4c.1654C>G (p.Leu552Val)
c.1621C>G (p.Leu541Val)
c.1666C>G (p.Leu556Val)
17g.746389G>TCA397506638GEMIN4c.1654C>A (p.Leu552Met)
c.1621C>A (p.Leu541Met)
c.1666C>A (p.Leu556Met)
17g.746390dupCA8262585GEMIN4c.1654dup (p.Leu552ProfsTer?)
c.1621dup (p.Leu541ProfsTer?)
c.1666dup (p.Leu556ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746390G>ACA497384357GEMIN4c.1653C>T (p.Arg551=)
c.1620C>T (p.Arg540=)
c.1665C>T (p.Arg555=)
17g.746390G>CCA497384358GEMIN4c.1653C>G (p.Arg551=)
c.1620C>G (p.Arg540=)
c.1665C>G (p.Arg555=)
 dbSNP
17g.746390G=CA2242474691GEMIN4c.1653C= (p.Arg551=)
c.1620C= (p.Arg540=)
c.1665C= (p.Arg555=)
17g.746390G>TCA497384359GEMIN4c.1653C>A (p.Arg551=)
c.1620C>A (p.Arg540=)
c.1665C>A (p.Arg555=)
17g.746391C>ACA397506639GEMIN4c.1652G>T (p.Arg551Leu)
c.1619G>T (p.Arg540Leu)
c.1664G>T (p.Arg555Leu)
17g.746391C=CA2242474692GEMIN4c.1652G= (p.Arg551=)
c.1619G= (p.Arg540=)
c.1664G= (p.Arg555=)
17g.746391C>GCA397506640GEMIN4c.1652G>C (p.Arg551Pro)
c.1619G>C (p.Arg540Pro)
c.1664G>C (p.Arg555Pro)
17g.746391C>TCA8262586GEMIN4c.1652G>A (p.Arg551His)
c.1619G>A (p.Arg540His)
c.1664G>A (p.Arg555His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746392G>ACA8262587GEMIN4c.1651C>T (p.Arg551Cys)
c.1618C>T (p.Arg540Cys)
c.1663C>T (p.Arg555Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746392G>CCA397506641GEMIN4c.1651C>G (p.Arg551Gly)
c.1618C>G (p.Arg540Gly)
c.1663C>G (p.Arg555Gly)
17g.746392G=CA2242474693GEMIN4c.1651C= (p.Arg551=)
c.1618C= (p.Arg540=)
c.1663C= (p.Arg555=)
17g.746392G>TCA397506642GEMIN4c.1651C>A (p.Arg551Ser)
c.1618C>A (p.Arg540Ser)
c.1663C>A (p.Arg555Ser)
17g.746393G>ACA497384363GEMIN4c.1650C>T (p.Ala550=)
c.1617C>T (p.Ala539=)
c.1662C>T (p.Ala554=)
 COSMIC
17g.746393G>CCA497384364GEMIN4c.1650C>G (p.Ala550=)
c.1617C>G (p.Ala539=)
c.1662C>G (p.Ala554=)
17g.746393G>TCA497384365GEMIN4c.1650C>A (p.Ala550=)
c.1617C>A (p.Ala539=)
c.1662C>A (p.Ala554=)
17g.746394G>ACA397506643GEMIN4c.1649C>T (p.Ala550Val)
c.1616C>T (p.Ala539Val)
c.1661C>T (p.Ala554Val)
17g.746394G>CCA397506644GEMIN4c.1649C>G (p.Ala550Gly)
c.1616C>G (p.Ala539Gly)
c.1661C>G (p.Ala554Gly)
17g.746394G>TCA397506645GEMIN4c.1649C>A (p.Ala550Asp)
c.1616C>A (p.Ala539Asp)
c.1661C>A (p.Ala554Asp)
17g.746395C>ACA397506646GEMIN4c.1648G>T (p.Ala550Ser)
c.1615G>T (p.Ala539Ser)
c.1660G>T (p.Ala554Ser)
17g.746395C=CA2242474694GEMIN4c.1648G= (p.Ala550=)
c.1615G= (p.Ala539=)
c.1660G= (p.Ala554=)
17g.746395C>GCA397506648GEMIN4c.1648G>C (p.Ala550Pro)
c.1615G>C (p.Ala539Pro)
c.1660G>C (p.Ala554Pro)
17g.746395C>TCA397506647GEMIN4c.1648G>A (p.Ala550Thr)
c.1615G>A (p.Ala539Thr)
c.1660G>A (p.Ala554Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.746396C>ACA497384370GEMIN4c.1647G>T (p.Val549=)
c.1614G>T (p.Val538=)
c.1659G>T (p.Val553=)
17g.746396C>GCA497384371GEMIN4c.1647G>C (p.Val549=)
c.1614G>C (p.Val538=)
c.1659G>C (p.Val553=)
17g.746396C>TCA497384372GEMIN4c.1647G>A (p.Val549=)
c.1614G>A (p.Val538=)
c.1659G>A (p.Val553=)
17g.746397A>CCA397506649GEMIN4c.1646T>G (p.Val549Gly)
c.1613T>G (p.Val538Gly)
c.1658T>G (p.Val553Gly)
17g.746397A>GCA397506650GEMIN4c.1646T>C (p.Val549Ala)
c.1613T>C (p.Val538Ala)
c.1658T>C (p.Val553Ala)
17g.746397A>TCA397506651GEMIN4c.1646T>A (p.Val549Glu)
c.1613T>A (p.Val538Glu)
c.1658T>A (p.Val553Glu)
17g.746398C>ACA397506652GEMIN4c.1645G>T (p.Val549Leu)
c.1612G>T (p.Val538Leu)
c.1657G>T (p.Val553Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.746398C=CA2242474695GEMIN4c.1645G= (p.Val549=)
c.1612G= (p.Val538=)
c.1657G= (p.Val553=)
17g.746398C>GCA397506653GEMIN4c.1645G>C (p.Val549Leu)
c.1612G>C (p.Val538Leu)
c.1657G>C (p.Val553Leu)
17g.746398C>TCA8262588GEMIN4c.1645G>A (p.Val549Met)
c.1612G>A (p.Val538Met)
c.1657G>A (p.Val553Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.746399G>ACA8262589GEMIN4c.1644C>T (p.Ser548=)
c.1611C>T (p.Ser537=)
c.1656C>T (p.Ser552=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746399G>CCA497384375GEMIN4c.1644C>G (p.Ser548=)
c.1611C>G (p.Ser537=)
c.1656C>G (p.Ser552=)
17g.746399G=CA2242474696GEMIN4c.1644C= (p.Ser548=)
c.1611C= (p.Ser537=)
c.1656C= (p.Ser552=)
17g.746399G>TCA497384374GEMIN4c.1644C>A (p.Ser548=)
c.1611C>A (p.Ser537=)
c.1656C>A (p.Ser552=)
17g.746400G>ACA8262590GEMIN4c.1643C>T (p.Ser548Phe)
c.1610C>T (p.Ser537Phe)
c.1655C>T (p.Ser552Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.746400G>CCA397506655GEMIN4c.1643C>G (p.Ser548Cys)
c.1610C>G (p.Ser537Cys)
c.1655C>G (p.Ser552Cys)
17g.746400G=CA2242474697GEMIN4c.1643C= (p.Ser548=)
c.1610C= (p.Ser537=)
c.1655C= (p.Ser552=)
17g.746400G>TCA397506654GEMIN4c.1643C>A (p.Ser548Tyr)
c.1610C>A (p.Ser537Tyr)
c.1655C>A (p.Ser552Tyr)
17g.746401A>CCA397506656GEMIN4c.1642T>G (p.Ser548Ala)
c.1609T>G (p.Ser537Ala)
c.1654T>G (p.Ser552Ala)
17g.746401A>GCA397506657GEMIN4c.1642T>C (p.Ser548Pro)
c.1609T>C (p.Ser537Pro)
c.1654T>C (p.Ser552Pro)
17g.746401A>TCA397506658GEMIN4c.1642T>A (p.Ser548Thr)
c.1609T>A (p.Ser537Thr)
c.1654T>A (p.Ser552Thr)
17g.746402G>ACA8262591GEMIN4c.1641C>T (p.Ala547=)
c.1608C>T (p.Ala536=)
c.1653C>T (p.Ala551=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746402G>CCA497384378GEMIN4c.1641C>G (p.Ala547=)
c.1608C>G (p.Ala536=)
c.1653C>G (p.Ala551=)
 dbSNP gnomAD v3 gnomAD v4
17g.746402G=CA2242474698GEMIN4c.1641C= (p.Ala547=)
c.1608C= (p.Ala536=)
c.1653C= (p.Ala551=)
17g.746402G>TCA497384379GEMIN4c.1641C>A (p.Ala547=)
c.1608C>A (p.Ala536=)
c.1653C>A (p.Ala551=)
17g.746403G>ACA397506659GEMIN4c.1640C>T (p.Ala547Val)
c.1607C>T (p.Ala536Val)
c.1652C>T (p.Ala551Val)
 COSMIC
17g.746403G>CCA397506661GEMIN4c.1640C>G (p.Ala547Gly)
c.1607C>G (p.Ala536Gly)
c.1652C>G (p.Ala551Gly)
17g.746403G>TCA397506660GEMIN4c.1640C>A (p.Ala547Asp)
c.1607C>A (p.Ala536Asp)
c.1652C>A (p.Ala551Asp)
17g.746404C>ACA397506662GEMIN4c.1639G>T (p.Ala547Ser)
c.1606G>T (p.Ala536Ser)
c.1651G>T (p.Ala551Ser)
17g.746404C>GCA397506663GEMIN4c.1639G>C (p.Ala547Pro)
c.1606G>C (p.Ala536Pro)
c.1651G>C (p.Ala551Pro)
17g.746404C>TCA397506664GEMIN4c.1639G>A (p.Ala547Thr)
c.1606G>A (p.Ala536Thr)
c.1651G>A (p.Ala551Thr)
17g.746405C>ACA497384380GEMIN4c.1638G>T (p.Val546=)
c.1605G>T (p.Val535=)
c.1650G>T (p.Val550=)
17g.746405C=CA2242474699GEMIN4c.1638G= (p.Val546=)
c.1605G= (p.Val535=)
c.1650G= (p.Val550=)
17g.746405C>GCA8262592GEMIN4c.1638G>C (p.Val546=)
c.1605G>C (p.Val535=)
c.1650G>C (p.Val550=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746405C>TCA497384381GEMIN4c.1638G>A (p.Val546=)
c.1605G>A (p.Val535=)
c.1650G>A (p.Val550=)
17g.746406A=CA2242474700GEMIN4c.1637T= (p.Val546=)
c.1604T= (p.Val535=)
c.1649T= (p.Val550=)
17g.746406A>CCA397506665GEMIN4c.1637T>G (p.Val546Gly)
c.1604T>G (p.Val535Gly)
c.1649T>G (p.Val550Gly)
17g.746406A>GCA397506666GEMIN4c.1637T>C (p.Val546Ala)
c.1604T>C (p.Val535Ala)
c.1649T>C (p.Val550Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.746406A>TCA397506667GEMIN4c.1637T>A (p.Val546Glu)
c.1604T>A (p.Val535Glu)
c.1649T>A (p.Val550Glu)
17g.746407C>ACA397506668GEMIN4c.1636G>T (p.Val546Leu)
c.1603G>T (p.Val535Leu)
c.1648G>T (p.Val550Leu)
17g.746407C=CA2242474701GEMIN4c.1636G= (p.Val546=)
c.1603G= (p.Val535=)
c.1648G= (p.Val550=)
17g.746407C>GCA397506669GEMIN4c.1636G>C (p.Val546Leu)
c.1603G>C (p.Val535Leu)
c.1648G>C (p.Val550Leu)
17g.746407C>TCA8262593GEMIN4c.1636G>A (p.Val546Met)
c.1603G>A (p.Val535Met)
c.1648G>A (p.Val550Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746408A>CCA497384382GEMIN4c.1635T>G (p.Ala545=)
c.1602T>G (p.Ala534=)
c.1647T>G (p.Ala549=)
17g.746408A>GCA497384384GEMIN4c.1635T>C (p.Ala545=)
c.1602T>C (p.Ala534=)
c.1647T>C (p.Ala549=)
17g.746408A>TCA497384386GEMIN4c.1635T>A (p.Ala545=)
c.1602T>A (p.Ala534=)
c.1647T>A (p.Ala549=)
17g.746409G>ACA397506672GEMIN4c.1634C>T (p.Ala545Val)
c.1601C>T (p.Ala534Val)
c.1646C>T (p.Ala549Val)
17g.746409G>CCA397506670GEMIN4c.1634C>G (p.Ala545Gly)
c.1601C>G (p.Ala534Gly)
c.1646C>G (p.Ala549Gly)
17g.746409G>TCA397506671GEMIN4c.1634C>A (p.Ala545Asp)
c.1601C>A (p.Ala534Asp)
c.1646C>A (p.Ala549Asp)
17g.746409_746410delinsGCCA2242474702GEMIN4c.1633_1634delinsGC (p.Ala545=)
c.1600_1601delinsGC (p.Ala534=)
c.1645_1646delinsGC (p.Ala549=)
17g.746410delCA8262594GEMIN4c.1633del (p.Ala545LeufsTer10)
c.1600del (p.Ala534LeufsTer10)
c.1645del (p.Ala549LeufsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746410C>ACA397506673GEMIN4c.1633G>T (p.Ala545Ser)
c.1600G>T (p.Ala534Ser)
c.1645G>T (p.Ala549Ser)
17g.746410C>GCA397506674GEMIN4c.1633G>C (p.Ala545Pro)
c.1600G>C (p.Ala534Pro)
c.1645G>C (p.Ala549Pro)
17g.746410C>TCA397506675GEMIN4c.1633G>A (p.Ala545Thr)
c.1600G>A (p.Ala534Thr)
c.1645G>A (p.Ala549Thr)
 gnomAD v4
17g.746411T>ACA397506677GEMIN4c.1632A>T (p.Lys544Asn)
c.1599A>T (p.Lys533Asn)
c.1644A>T (p.Lys548Asn)
17g.746411T>CCA497384389GEMIN4c.1632A>G (p.Lys544=)
c.1599A>G (p.Lys533=)
c.1644A>G (p.Lys548=)
 gnomAD v4
17g.746411T>GCA397506676GEMIN4c.1632A>C (p.Lys544Asn)
c.1599A>C (p.Lys533Asn)
c.1644A>C (p.Lys548Asn)
17g.746412T>ACA397506678GEMIN4c.1631A>T (p.Lys544Ile)
c.1598A>T (p.Lys533Ile)
c.1643A>T (p.Lys548Ile)
17g.746412T>CCA397506679GEMIN4c.1631A>G (p.Lys544Arg)
c.1598A>G (p.Lys533Arg)
c.1643A>G (p.Lys548Arg)
 gnomAD v4
17g.746412T>GCA397506680GEMIN4c.1631A>C (p.Lys544Thr)
c.1598A>C (p.Lys533Thr)
c.1643A>C (p.Lys548Thr)
17g.746413T>ACA397506681GEMIN4c.1630A>T (p.Lys544Ter)
c.1597A>T (p.Lys533Ter)
c.1642A>T (p.Lys548Ter)
17g.746413T>CCA397506682GEMIN4c.1630A>G (p.Lys544Glu)
c.1597A>G (p.Lys533Glu)
c.1642A>G (p.Lys548Glu)
17g.746413T>GCA397506683GEMIN4c.1630A>C (p.Lys544Gln)
c.1597A>C (p.Lys533Gln)
c.1642A>C (p.Lys548Gln)
17g.746414T>ACA497384394GEMIN4c.1629A>T (p.Ala543=)
c.1596A>T (p.Ala532=)
c.1641A>T (p.Ala547=)
 dbSNP
17g.746414T>CCA497384392GEMIN4c.1629A>G (p.Ala543=)
c.1596A>G (p.Ala532=)
c.1641A>G (p.Ala547=)
17g.746414T>GCA497384390GEMIN4c.1629A>C (p.Ala543=)
c.1596A>C (p.Ala532=)
c.1641A>C (p.Ala547=)
17g.746414T=CA2242474703GEMIN4c.1629A= (p.Ala543=)
c.1596A= (p.Ala532=)
c.1641A= (p.Ala547=)
17g.746415G>ACA397506684GEMIN4c.1628C>T (p.Ala543Val)
c.1595C>T (p.Ala532Val)
c.1640C>T (p.Ala547Val)
17g.746415G>CCA397506685GEMIN4c.1628C>G (p.Ala543Gly)
c.1595C>G (p.Ala532Gly)
c.1640C>G (p.Ala547Gly)
17g.746415G>TCA397506686GEMIN4c.1628C>A (p.Ala543Glu)
c.1595C>A (p.Ala532Glu)
c.1640C>A (p.Ala547Glu)
17g.746416C>ACA397506687GEMIN4c.1627G>T (p.Ala543Ser)
c.1594G>T (p.Ala532Ser)
c.1639G>T (p.Ala547Ser)
 dbSNP
17g.746416C>GCA397506688GEMIN4c.1627G>C (p.Ala543Pro)
c.1594G>C (p.Ala532Pro)
c.1639G>C (p.Ala547Pro)
17g.746416C>TCA397506689GEMIN4c.1627G>A (p.Ala543Thr)
c.1594G>A (p.Ala532Thr)
c.1639G>A (p.Ala547Thr)
17g.746417C>ACA397506690GEMIN4c.1626G>T (p.Leu542Phe)
c.1593G>T (p.Leu531Phe)
c.1638G>T (p.Leu546Phe)
17g.746417C=CA2242474704GEMIN4c.1626G= (p.Leu542=)
c.1593G= (p.Leu531=)
c.1638G= (p.Leu546=)
17g.746417C>GCA397506691GEMIN4c.1626G>C (p.Leu542Phe)
c.1593G>C (p.Leu531Phe)
c.1638G>C (p.Leu546Phe)
 dbSNP
17g.746417C>TCA497384395GEMIN4c.1626G>A (p.Leu542=)
c.1593G>A (p.Leu531=)
c.1638G>A (p.Leu546=)
 dbSNP
17g.746418A=CA2242474705GEMIN4c.1625T= (p.Leu542=)
c.1592T= (p.Leu531=)
c.1637T= (p.Leu546=)
17g.746418A>CCA397506692GEMIN4c.1625T>G (p.Leu542Trp)
c.1592T>G (p.Leu531Trp)
c.1637T>G (p.Leu546Trp)
17g.746418A>GCA397506693GEMIN4c.1625T>C (p.Leu542Ser)
c.1592T>C (p.Leu531Ser)
c.1637T>C (p.Leu546Ser)
 dbSNP
17g.746418A>TCA397506694GEMIN4c.1625T>A (p.Leu542Ter)
c.1592T>A (p.Leu531Ter)
c.1637T>A (p.Leu546Ter)
17g.746419A=CA2242474706GEMIN4c.1624T= (p.Leu542=)
c.1591T= (p.Leu531=)
c.1636T= (p.Leu546=)
17g.746419A>CCA397506695GEMIN4c.1624T>G (p.Leu542Val)
c.1591T>G (p.Leu531Val)
c.1636T>G (p.Leu546Val)
17g.746419A>GCA8262595GEMIN4c.1624T>C (p.Leu542=)
c.1591T>C (p.Leu531=)
c.1636T>C (p.Leu546=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746419A>TCA397506696GEMIN4c.1624T>A (p.Leu542Met)
c.1591T>A (p.Leu531Met)
c.1636T>A (p.Leu546Met)
17g.746420G>ACA497384399GEMIN4c.1623C>T (p.Gly541=)
c.1590C>T (p.Gly530=)
c.1635C>T (p.Gly545=)
17g.746420G>CCA497384400GEMIN4c.1623C>G (p.Gly541=)
c.1590C>G (p.Gly530=)
c.1635C>G (p.Gly545=)
 dbSNP
17g.746420G=CA2242474707GEMIN4c.1623C= (p.Gly541=)
c.1590C= (p.Gly530=)
c.1635C= (p.Gly545=)
17g.746420G>TCA497384401GEMIN4c.1623C>A (p.Gly541=)
c.1590C>A (p.Gly530=)
c.1635C>A (p.Gly545=)
17g.746421C>ACA397506697GEMIN4c.1622G>T (p.Gly541Val)
c.1589G>T (p.Gly530Val)
c.1634G>T (p.Gly545Val)
17g.746421C=CA2242474708GEMIN4c.1622G= (p.Gly541=)
c.1589G= (p.Gly530=)
c.1634G= (p.Gly545=)
17g.746421C>GCA397506698GEMIN4c.1622G>C (p.Gly541Ala)
c.1589G>C (p.Gly530Ala)
c.1634G>C (p.Gly545Ala)
 gnomAD v4
17g.746421C>TCA8262596GEMIN4c.1622G>A (p.Gly541Asp)
c.1589G>A (p.Gly530Asp)
c.1634G>A (p.Gly545Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746423dupCA2635153330GEMIN4c.1622dup (p.Ala543GlyfsTer?)
c.1589dup (p.Ala532GlyfsTer?)
c.1634dup (p.Ala547GlyfsTer?)
 gnomAD v4

Number of alleles fetched