Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
17g.746422C>ACA397506699GEMIN4c.1621G>T (p.Gly541Cys)
c.1588G>T (p.Gly530Cys)
c.1633G>T (p.Gly545Cys)
17g.746422C>GCA397506700GEMIN4c.1621G>C (p.Gly541Arg)
c.1588G>C (p.Gly530Arg)
c.1633G>C (p.Gly545Arg)
17g.746422C>TCA397506701GEMIN4c.1621G>A (p.Gly541Ser)
c.1588G>A (p.Gly530Ser)
c.1633G>A (p.Gly545Ser)
17g.746423C>ACA397506702GEMIN4c.1620G>T (p.Gln540His)
c.1587G>T (p.Gln529His)
c.1632G>T (p.Gln544His)
17g.746423C>GCA397506703GEMIN4c.1620G>C (p.Gln540His)
c.1587G>C (p.Gln529His)
c.1632G>C (p.Gln544His)
17g.746423C>TCA497384403GEMIN4c.1620G>A (p.Gln540=)
c.1587G>A (p.Gln529=)
c.1632G>A (p.Gln544=)
17g.746424T>ACA397506704GEMIN4c.1619A>T (p.Gln540Leu)
c.1586A>T (p.Gln529Leu)
c.1631A>T (p.Gln544Leu)
17g.746424T>CCA397506705GEMIN4c.1619A>G (p.Gln540Arg)
c.1586A>G (p.Gln529Arg)
c.1631A>G (p.Gln544Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746424T>GCA397506706GEMIN4c.1619A>C (p.Gln540Pro)
c.1586A>C (p.Gln529Pro)
c.1631A>C (p.Gln544Pro)
17g.746424T=CA2242474709GEMIN4c.1619A= (p.Gln540=)
c.1586A= (p.Gln529=)
c.1631A= (p.Gln544=)
17g.746425G>ACA397506707GEMIN4c.1618C>T (p.Gln540Ter)
c.1585C>T (p.Gln529Ter)
c.1630C>T (p.Gln544Ter)
17g.746425G>CCA397506708GEMIN4c.1618C>G (p.Gln540Glu)
c.1585C>G (p.Gln529Glu)
c.1630C>G (p.Gln544Glu)
 gnomAD v4
17g.746425G>TCA397506709GEMIN4c.1618C>A (p.Gln540Lys)
c.1585C>A (p.Gln529Lys)
c.1630C>A (p.Gln544Lys)
17g.746426T>ACA397506710GEMIN4c.1617A>T (p.Glu539Asp)
c.1584A>T (p.Glu528Asp)
c.1629A>T (p.Glu543Asp)
17g.746426T>CCA8262597GEMIN4c.1617A>G (p.Glu539=)
c.1584A>G (p.Glu528=)
c.1629A>G (p.Glu543=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746426T>GCA397506711GEMIN4c.1617A>C (p.Glu539Asp)
c.1584A>C (p.Glu528Asp)
c.1629A>C (p.Glu543Asp)
17g.746426T=CA2242474710GEMIN4c.1617A= (p.Glu539=)
c.1584A= (p.Glu528=)
c.1629A= (p.Glu543=)
17g.746427T>ACA397506712GEMIN4c.1616A>T (p.Glu539Val)
c.1583A>T (p.Glu528Val)
c.1628A>T (p.Glu543Val)
17g.746427T>CCA397506713GEMIN4c.1616A>G (p.Glu539Gly)
c.1583A>G (p.Glu528Gly)
c.1628A>G (p.Glu543Gly)
 gnomAD v4
17g.746427T>GCA397506714GEMIN4c.1616A>C (p.Glu539Ala)
c.1583A>C (p.Glu528Ala)
c.1628A>C (p.Glu543Ala)
17g.746428C>ACA397506717GEMIN4c.1615G>T (p.Glu539Ter)
c.1582G>T (p.Glu528Ter)
c.1627G>T (p.Glu543Ter)
17g.746428C=CA2242474711GEMIN4c.1615G= (p.Glu539=)
c.1582G= (p.Glu528=)
c.1627G= (p.Glu543=)
17g.746428C>GCA397506716GEMIN4c.1615G>C (p.Glu539Gln)
c.1582G>C (p.Glu528Gln)
c.1627G>C (p.Glu543Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.746428C>TCA397506715GEMIN4c.1615G>A (p.Glu539Lys)
c.1582G>A (p.Glu528Lys)
c.1627G>A (p.Glu543Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.746429G>ACA8262598GEMIN4c.1614C>T (p.Ser538=)
c.1581C>T (p.Ser527=)
c.1626C>T (p.Ser542=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746429G>CCA497384414GEMIN4c.1614C>G (p.Ser538=)
c.1581C>G (p.Ser527=)
c.1626C>G (p.Ser542=)
17g.746429G=CA2242474712GEMIN4c.1614C= (p.Ser538=)
c.1581C= (p.Ser527=)
c.1626C= (p.Ser542=)
17g.746429G>TCA497384415GEMIN4c.1614C>A (p.Ser538=)
c.1581C>A (p.Ser527=)
c.1626C>A (p.Ser542=)
17g.746430G>ACA397506718GEMIN4c.1613C>T (p.Ser538Phe)
c.1580C>T (p.Ser527Phe)
c.1625C>T (p.Ser542Phe)
 dbSNP gnomAD v4
17g.746430G>CCA397506719GEMIN4c.1613C>G (p.Ser538Cys)
c.1580C>G (p.Ser527Cys)
c.1625C>G (p.Ser542Cys)
17g.746430G=CA2242474713GEMIN4c.1613C= (p.Ser538=)
c.1580C= (p.Ser527=)
c.1625C= (p.Ser542=)
17g.746430G>TCA397506720GEMIN4c.1613C>A (p.Ser538Tyr)
c.1580C>A (p.Ser527Tyr)
c.1625C>A (p.Ser542Tyr)
17g.746431A=CA2242474714GEMIN4c.1612T= (p.Ser538=)
c.1579T= (p.Ser527=)
c.1624T= (p.Ser542=)
17g.746431A>CCA397506721GEMIN4c.1612T>G (p.Ser538Ala)
c.1579T>G (p.Ser527Ala)
c.1624T>G (p.Ser542Ala)
17g.746431A>GCA397506722GEMIN4c.1612T>C (p.Ser538Pro)
c.1579T>C (p.Ser527Pro)
c.1624T>C (p.Ser542Pro)
17g.746431A>TCA8262599GEMIN4c.1612T>A (p.Ser538Thr)
c.1579T>A (p.Ser527Thr)
c.1624T>A (p.Ser542Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746432G>ACA497384421GEMIN4c.1611C>T (p.Ala537=)
c.1578C>T (p.Ala526=)
c.1623C>T (p.Ala541=)
 dbSNP gnomAD v2 gnomAD v4
17g.746432G>CCA497384422GEMIN4c.1611C>G (p.Ala537=)
c.1578C>G (p.Ala526=)
c.1623C>G (p.Ala541=)
17g.746432G=CA2242474715GEMIN4c.1611C= (p.Ala537=)
c.1578C= (p.Ala526=)
c.1623C= (p.Ala541=)
17g.746432G>TCA497384423GEMIN4c.1611C>A (p.Ala537=)
c.1578C>A (p.Ala526=)
c.1623C>A (p.Ala541=)
17g.746433G>ACA397506723GEMIN4c.1610C>T (p.Ala537Val)
c.1577C>T (p.Ala526Val)
c.1622C>T (p.Ala541Val)
17g.746433G>CCA397506724GEMIN4c.1610C>G (p.Ala537Gly)
c.1577C>G (p.Ala526Gly)
c.1622C>G (p.Ala541Gly)
17g.746433G>TCA397506725GEMIN4c.1610C>A (p.Ala537Asp)
c.1577C>A (p.Ala526Asp)
c.1622C>A (p.Ala541Asp)
17g.746434C>ACA397506726GEMIN4c.1609G>T (p.Ala537Ser)
c.1576G>T (p.Ala526Ser)
c.1621G>T (p.Ala541Ser)
17g.746434C=CA2242474716GEMIN4c.1609G= (p.Ala537=)
c.1576G= (p.Ala526=)
c.1621G= (p.Ala541=)
17g.746434C>GCA397506727GEMIN4c.1609G>C (p.Ala537Pro)
c.1576G>C (p.Ala526Pro)
c.1621G>C (p.Ala541Pro)
 dbSNP gnomAD v4
17g.746434C>TCA397506728GEMIN4c.1609G>A (p.Ala537Thr)
c.1576G>A (p.Ala526Thr)
c.1621G>A (p.Ala541Thr)
 dbSNP gnomAD v4
17g.746435A>CCA397506730GEMIN4c.1608T>G (p.Ser536Arg)
c.1575T>G (p.Ser525Arg)
c.1620T>G (p.Ser540Arg)
17g.746435A>GCA497384428GEMIN4c.1608T>C (p.Ser536=)
c.1575T>C (p.Ser525=)
c.1620T>C (p.Ser540=)
17g.746435A>TCA397506729GEMIN4c.1608T>A (p.Ser536Arg)
c.1575T>A (p.Ser525Arg)
c.1620T>A (p.Ser540Arg)
17g.746436C>ACA397506731GEMIN4c.1607G>T (p.Ser536Ile)
c.1574G>T (p.Ser525Ile)
c.1619G>T (p.Ser540Ile)
17g.746436C>GCA397506732GEMIN4c.1607G>C (p.Ser536Thr)
c.1574G>C (p.Ser525Thr)
c.1619G>C (p.Ser540Thr)
17g.746436C>TCA397506733GEMIN4c.1607G>A (p.Ser536Asn)
c.1574G>A (p.Ser525Asn)
c.1619G>A (p.Ser540Asn)
17g.746437T>ACA397506734GEMIN4c.1606A>T (p.Ser536Cys)
c.1573A>T (p.Ser525Cys)
c.1618A>T (p.Ser540Cys)
17g.746437T>CCA397506735GEMIN4c.1606A>G (p.Ser536Gly)
c.1573A>G (p.Ser525Gly)
c.1618A>G (p.Ser540Gly)
17g.746437T>GCA397506736GEMIN4c.1606A>C (p.Ser536Arg)
c.1573A>C (p.Ser525Arg)
c.1618A>C (p.Ser540Arg)
17g.746438C>ACA397506737GEMIN4c.1605G>T (p.Gln535His)
c.1572G>T (p.Gln524His)
c.1617G>T (p.Gln539His)
17g.746438C>GCA397506738GEMIN4c.1605G>C (p.Gln535His)
c.1572G>C (p.Gln524His)
c.1617G>C (p.Gln539His)
17g.746438C>TCA497384429GEMIN4c.1605G>A (p.Gln535=)
c.1572G>A (p.Gln524=)
c.1617G>A (p.Gln539=)
17g.746438_746442delinsCTGAGCA2242474717GEMIN4c.1601_1605delinsCTCAG (p.Thr534=)
c.1568_1572delinsCTCAG (p.Thr523=)
c.1613_1617delinsCTCAG (p.Thr538=)
17g.746439T>ACA397506739GEMIN4c.1604A>T (p.Gln535Leu)
c.1571A>T (p.Gln524Leu)
c.1616A>T (p.Gln539Leu)
17g.746439T>CCA397506741GEMIN4c.1604A>G (p.Gln535Arg)
c.1571A>G (p.Gln524Arg)
c.1616A>G (p.Gln539Arg)
17g.746439T>GCA397506740GEMIN4c.1604A>C (p.Gln535Pro)
c.1571A>C (p.Gln524Pro)
c.1616A>C (p.Gln539Pro)
17g.746443_746446delCA8262600GEMIN4c.1601_1604del (p.Thr534ArgfsTer20)
c.1568_1571del (p.Thr523ArgfsTer20)
c.1613_1616del (p.Thr538ArgfsTer20)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746440G>ACA397506742GEMIN4c.1603C>T (p.Gln535Ter)
c.1570C>T (p.Gln524Ter)
c.1615C>T (p.Gln539Ter)
17g.746440G>CCA397506743GEMIN4c.1603C>G (p.Gln535Glu)
c.1570C>G (p.Gln524Glu)
c.1615C>G (p.Gln539Glu)
17g.746440G>TCA397506744GEMIN4c.1603C>A (p.Gln535Lys)
c.1570C>A (p.Gln524Lys)
c.1615C>A (p.Gln539Lys)
17g.746441A=CA2242474718GEMIN4c.1602T= (p.Thr534=)
c.1569T= (p.Thr523=)
c.1614T= (p.Thr538=)
17g.746441A>CCA497384434GEMIN4c.1602T>G (p.Thr534=)
c.1569T>G (p.Thr523=)
c.1614T>G (p.Thr538=)
17g.746441A>GCA497384435GEMIN4c.1602T>C (p.Thr534=)
c.1569T>C (p.Thr523=)
c.1614T>C (p.Thr538=)
17g.746441A>TCA497384436GEMIN4c.1602T>A (p.Thr534=)
c.1569T>A (p.Thr523=)
c.1614T>A (p.Thr538=)
 dbSNP
17g.746442G>ACA8262601GEMIN4c.1601C>T (p.Thr534Ile)
c.1568C>T (p.Thr523Ile)
c.1613C>T (p.Thr538Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746442G>CCA397506746GEMIN4c.1601C>G (p.Thr534Ser)
c.1568C>G (p.Thr523Ser)
c.1613C>G (p.Thr538Ser)
17g.746442G=CA2242474719GEMIN4c.1601C= (p.Thr534=)
c.1568C= (p.Thr523=)
c.1613C= (p.Thr538=)
17g.746442G>TCA397506745GEMIN4c.1601C>A (p.Thr534Asn)
c.1568C>A (p.Thr523Asn)
c.1613C>A (p.Thr538Asn)
17g.746443T>ACA397506747GEMIN4c.1600A>T (p.Thr534Ser)
c.1567A>T (p.Thr523Ser)
c.1612A>T (p.Thr538Ser)
17g.746443T>CCA397506748GEMIN4c.1600A>G (p.Thr534Ala)
c.1567A>G (p.Thr523Ala)
c.1612A>G (p.Thr538Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746443T>GCA397506749GEMIN4c.1600A>C (p.Thr534Pro)
c.1567A>C (p.Thr523Pro)
c.1612A>C (p.Thr538Pro)
17g.746443T=CA2242474720GEMIN4c.1600A= (p.Thr534=)
c.1567A= (p.Thr523=)
c.1612A= (p.Thr538=)
17g.746444G>ACA286713687GEMIN4c.1599C>T (p.Leu533=)
c.1566C>T (p.Leu522=)
c.1611C>T (p.Leu537=)
 dbSNP gnomAD v2 gnomAD v4
17g.746444G>CCA497384439GEMIN4c.1599C>G (p.Leu533=)
c.1566C>G (p.Leu522=)
c.1611C>G (p.Leu537=)
17g.746444G=CA2242474721GEMIN4c.1599C= (p.Leu533=)
c.1566C= (p.Leu522=)
c.1611C= (p.Leu537=)
17g.746444G>TCA497384440GEMIN4c.1599C>A (p.Leu533=)
c.1566C>A (p.Leu522=)
c.1611C>A (p.Leu537=)
17g.746445A>CCA397506750GEMIN4c.1598T>G (p.Leu533Arg)
c.1565T>G (p.Leu522Arg)
c.1610T>G (p.Leu537Arg)
17g.746445A>GCA397506751GEMIN4c.1598T>C (p.Leu533Pro)
c.1565T>C (p.Leu522Pro)
c.1610T>C (p.Leu537Pro)
17g.746445A>TCA397506752GEMIN4c.1598T>A (p.Leu533His)
c.1565T>A (p.Leu522His)
c.1610T>A (p.Leu537His)
17g.746446G>ACA397506753GEMIN4c.1597C>T (p.Leu533Phe)
c.1564C>T (p.Leu522Phe)
c.1609C>T (p.Leu537Phe)
 gnomAD v4
17g.746446G>CCA397506754GEMIN4c.1597C>G (p.Leu533Val)
c.1564C>G (p.Leu522Val)
c.1609C>G (p.Leu537Val)
17g.746446G=CA2242474722GEMIN4c.1597C= (p.Leu533=)
c.1564C= (p.Leu522=)
c.1609C= (p.Leu537=)
17g.746446G>TCA397506755GEMIN4c.1597C>A (p.Leu533Ile)
c.1564C>A (p.Leu522Ile)
c.1609C>A (p.Leu537Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.746447C>ACA397506756GEMIN4c.1596G>T (p.Gln532His)
c.1563G>T (p.Gln521His)
c.1608G>T (p.Gln536His)
17g.746447C=CA2242474723GEMIN4c.1596G= (p.Gln532=)
c.1563G= (p.Gln521=)
c.1608G= (p.Gln536=)
17g.746447C>GCA8262602GEMIN4c.1596G>C (p.Gln532His)
c.1563G>C (p.Gln521His)
c.1608G>C (p.Gln536His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746447C>TCA497384443GEMIN4c.1596G>A (p.Gln532=)
c.1563G>A (p.Gln521=)
c.1608G>A (p.Gln536=)
17g.746448T>ACA397506759GEMIN4c.1595A>T (p.Gln532Leu)
c.1562A>T (p.Gln521Leu)
c.1607A>T (p.Gln536Leu)
17g.746448T>CCA397506757GEMIN4c.1595A>G (p.Gln532Arg)
c.1562A>G (p.Gln521Arg)
c.1607A>G (p.Gln536Arg)
17g.746448T>GCA397506758GEMIN4c.1595A>C (p.Gln532Pro)
c.1562A>C (p.Gln521Pro)
c.1607A>C (p.Gln536Pro)
17g.746449G>ACA397506760GEMIN4c.1594C>T (p.Gln532Ter)
c.1561C>T (p.Gln521Ter)
c.1606C>T (p.Gln536Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.746449G>CCA397506761GEMIN4c.1594C>G (p.Gln532Glu)
c.1561C>G (p.Gln521Glu)
c.1606C>G (p.Gln536Glu)
 gnomAD v4
17g.746449G=CA2242474724GEMIN4c.1594C= (p.Gln532=)
c.1561C= (p.Gln521=)
c.1606C= (p.Gln536=)
17g.746449G>TCA397506762GEMIN4c.1594C>A (p.Gln532Lys)
c.1561C>A (p.Gln521Lys)
c.1606C>A (p.Gln536Lys)
 gnomAD v4
17g.746450G>ACA497384445GEMIN4c.1593C>T (p.Asn531=)
c.1560C>T (p.Asn520=)
c.1605C>T (p.Asn535=)
17g.746450G>CCA8262603GEMIN4c.1593C>G (p.Asn531Lys)
c.1560C>G (p.Asn520Lys)
c.1605C>G (p.Asn535Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746450G=CA2242474725GEMIN4c.1593C= (p.Asn531=)
c.1560C= (p.Asn520=)
c.1605C= (p.Asn535=)
17g.746450G>TCA397506763GEMIN4c.1593C>A (p.Asn531Lys)
c.1560C>A (p.Asn520Lys)
c.1605C>A (p.Asn535Lys)
17g.746451T>ACA397506764GEMIN4c.1592A>T (p.Asn531Ile)
c.1559A>T (p.Asn520Ile)
c.1604A>T (p.Asn535Ile)
17g.746451T>CCA397506765GEMIN4c.1592A>G (p.Asn531Ser)
c.1559A>G (p.Asn520Ser)
c.1604A>G (p.Asn535Ser)
 dbSNP gnomAD v4
17g.746451T>GCA397506766GEMIN4c.1592A>C (p.Asn531Thr)
c.1559A>C (p.Asn520Thr)
c.1604A>C (p.Asn535Thr)
17g.746452T>ACA397506767GEMIN4c.1591A>T (p.Asn531Tyr)
c.1558A>T (p.Asn520Tyr)
c.1603A>T (p.Asn535Tyr)
17g.746452T>CCA397506768GEMIN4c.1591A>G (p.Asn531Asp)
c.1558A>G (p.Asn520Asp)
c.1603A>G (p.Asn535Asp)
17g.746452T>GCA397506769GEMIN4c.1591A>C (p.Asn531His)
c.1558A>C (p.Asn520His)
c.1603A>C (p.Asn535His)
17g.746453A>CCA397506770GEMIN4c.1590T>G (p.Phe530Leu)
c.1557T>G (p.Phe519Leu)
c.1602T>G (p.Phe534Leu)
17g.746453A>GCA497384447GEMIN4c.1590T>C (p.Phe530=)
c.1557T>C (p.Phe519=)
c.1602T>C (p.Phe534=)
17g.746453A>TCA397506771GEMIN4c.1590T>A (p.Phe530Leu)
c.1557T>A (p.Phe519Leu)
c.1602T>A (p.Phe534Leu)
17g.746454A=CA2242474726GEMIN4c.1589T= (p.Phe530=)
c.1556T= (p.Phe519=)
c.1601T= (p.Phe534=)
17g.746454A>CCA8262604GEMIN4c.1589T>G (p.Phe530Cys)
c.1556T>G (p.Phe519Cys)
c.1601T>G (p.Phe534Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746454A>GCA397506772GEMIN4c.1589T>C (p.Phe530Ser)
c.1556T>C (p.Phe519Ser)
c.1601T>C (p.Phe534Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.746454A>TCA397506773GEMIN4c.1589T>A (p.Phe530Tyr)
c.1556T>A (p.Phe519Tyr)
c.1601T>A (p.Phe534Tyr)
17g.746455A>CCA397506774GEMIN4c.1588T>G (p.Phe530Val)
c.1555T>G (p.Phe519Val)
c.1600T>G (p.Phe534Val)
17g.746455A>GCA397506775GEMIN4c.1588T>C (p.Phe530Leu)
c.1555T>C (p.Phe519Leu)
c.1600T>C (p.Phe534Leu)
17g.746455A>TCA397506776GEMIN4c.1588T>A (p.Phe530Ile)
c.1555T>A (p.Phe519Ile)
c.1600T>A (p.Phe534Ile)
17g.746456A=CA2242474727GEMIN4c.1587T= (p.Thr529=)
c.1554T= (p.Thr518=)
c.1599T= (p.Thr533=)
17g.746456A>CCA497384452GEMIN4c.1587T>G (p.Thr529=)
c.1554T>G (p.Thr518=)
c.1599T>G (p.Thr533=)
 dbSNP
17g.746456A>GCA497384453GEMIN4c.1587T>C (p.Thr529=)
c.1554T>C (p.Thr518=)
c.1599T>C (p.Thr533=)
17g.746456A>TCA497384454GEMIN4c.1587T>A (p.Thr529=)
c.1554T>A (p.Thr518=)
c.1599T>A (p.Thr533=)
17g.746457G>ACA397506777GEMIN4c.1586C>T (p.Thr529Ile)
c.1553C>T (p.Thr518Ile)
c.1598C>T (p.Thr533Ile)
17g.746457G>CCA397506778GEMIN4c.1586C>G (p.Thr529Ser)
c.1553C>G (p.Thr518Ser)
c.1598C>G (p.Thr533Ser)
17g.746457G>TCA397506779GEMIN4c.1586C>A (p.Thr529Asn)
c.1553C>A (p.Thr518Asn)
c.1598C>A (p.Thr533Asn)
17g.746458T>ACA8262605GEMIN4c.1585A>T (p.Thr529Ser)
c.1552A>T (p.Thr518Ser)
c.1597A>T (p.Thr533Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746458T>CCA397506780GEMIN4c.1585A>G (p.Thr529Ala)
c.1552A>G (p.Thr518Ala)
c.1597A>G (p.Thr533Ala)
 gnomAD v4
17g.746458T>GCA397506781GEMIN4c.1585A>C (p.Thr529Pro)
c.1552A>C (p.Thr518Pro)
c.1597A>C (p.Thr533Pro)
17g.746458T=CA2242474728GEMIN4c.1585A= (p.Thr529=)
c.1552A= (p.Thr518=)
c.1597A= (p.Thr533=)
17g.746459T>ACA497384458GEMIN4c.1584A>T (p.Thr528=)
c.1551A>T (p.Thr517=)
c.1596A>T (p.Thr532=)
17g.746459T>CCA497384459GEMIN4c.1584A>G (p.Thr528=)
c.1551A>G (p.Thr517=)
c.1596A>G (p.Thr532=)
 dbSNP gnomAD v2
17g.746459T>GCA497384460GEMIN4c.1584A>C (p.Thr528=)
c.1551A>C (p.Thr517=)
c.1596A>C (p.Thr532=)
17g.746459T=CA2242474729GEMIN4c.1584A= (p.Thr528=)
c.1551A= (p.Thr517=)
c.1596A= (p.Thr532=)
17g.746460G>ACA397506782GEMIN4c.1583C>T (p.Thr528Ile)
c.1550C>T (p.Thr517Ile)
c.1595C>T (p.Thr532Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.746460G>CCA8262606GEMIN4c.1583C>G (p.Thr528Arg)
c.1550C>G (p.Thr517Arg)
c.1595C>G (p.Thr532Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746460G=CA2242474730GEMIN4c.1583C= (p.Thr528=)
c.1550C= (p.Thr517=)
c.1595C= (p.Thr532=)
17g.746460G>TCA397506783GEMIN4c.1583C>A (p.Thr528Lys)
c.1550C>A (p.Thr517Lys)
c.1595C>A (p.Thr532Lys)
17g.746461T>ACA397506784GEMIN4c.1582A>T (p.Thr528Ser)
c.1549A>T (p.Thr517Ser)
c.1594A>T (p.Thr532Ser)
17g.746461T>CCA397506786GEMIN4c.1582A>G (p.Thr528Ala)
c.1549A>G (p.Thr517Ala)
c.1594A>G (p.Thr532Ala)
17g.746461T>GCA397506785GEMIN4c.1582A>C (p.Thr528Pro)
c.1549A>C (p.Thr517Pro)
c.1594A>C (p.Thr532Pro)
17g.746462A=CA2242474731GEMIN4c.1581T= (p.Asn527=)
c.1548T= (p.Asn516=)
c.1593T= (p.Asn531=)
17g.746462A>CCA397506787GEMIN4c.1581T>G (p.Asn527Lys)
c.1548T>G (p.Asn516Lys)
c.1593T>G (p.Asn531Lys)
17g.746462A>GCA497384464GEMIN4c.1581T>C (p.Asn527=)
c.1548T>C (p.Asn516=)
c.1593T>C (p.Asn531=)
 dbSNP
17g.746462A>TCA397506788GEMIN4c.1581T>A (p.Asn527Lys)
c.1548T>A (p.Asn516Lys)
c.1593T>A (p.Asn531Lys)
17g.746463T>ACA397506789GEMIN4c.1580A>T (p.Asn527Ile)
c.1547A>T (p.Asn516Ile)
c.1592A>T (p.Asn531Ile)
17g.746463T>CCA8262607GEMIN4c.1580A>G (p.Asn527Ser)
c.1547A>G (p.Asn516Ser)
c.1592A>G (p.Asn531Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.746463T>GCA397506790GEMIN4c.1580A>C (p.Asn527Thr)
c.1547A>C (p.Asn516Thr)
c.1592A>C (p.Asn531Thr)
17g.746463T=CA2242474732GEMIN4c.1580A= (p.Asn527=)
c.1547A= (p.Asn516=)
c.1592A= (p.Asn531=)
17g.746464T>ACA397506791GEMIN4c.1579A>T (p.Asn527Tyr)
c.1546A>T (p.Asn516Tyr)
c.1591A>T (p.Asn531Tyr)
17g.746464T>CCA397506793GEMIN4c.1579A>G (p.Asn527Asp)
c.1546A>G (p.Asn516Asp)
c.1591A>G (p.Asn531Asp)
17g.746464T>GCA397506792GEMIN4c.1579A>C (p.Asn527His)
c.1546A>C (p.Asn516His)
c.1591A>C (p.Asn531His)
17g.746465G>ACA497384465GEMIN4c.1578C>T (p.Leu526=)
c.1545C>T (p.Leu515=)
c.1590C>T (p.Leu530=)
17g.746465G>CCA497384466GEMIN4c.1578C>G (p.Leu526=)
c.1545C>G (p.Leu515=)
c.1590C>G (p.Leu530=)
17g.746465G>TCA497384467GEMIN4c.1578C>A (p.Leu526=)
c.1545C>A (p.Leu515=)
c.1590C>A (p.Leu530=)
17g.746466A>CCA397506794GEMIN4c.1577T>G (p.Leu526Arg)
c.1544T>G (p.Leu515Arg)
c.1589T>G (p.Leu530Arg)
 gnomAD v4
17g.746466A>GCA397506795GEMIN4c.1577T>C (p.Leu526Pro)
c.1544T>C (p.Leu515Pro)
c.1589T>C (p.Leu530Pro)
17g.746466A>TCA397506796GEMIN4c.1577T>A (p.Leu526His)
c.1544T>A (p.Leu515His)
c.1589T>A (p.Leu530His)
17g.746467G>ACA397506797GEMIN4c.1576C>T (p.Leu526Phe)
c.1543C>T (p.Leu515Phe)
c.1588C>T (p.Leu530Phe)
17g.746467G>CCA397506798GEMIN4c.1576C>G (p.Leu526Val)
c.1543C>G (p.Leu515Val)
c.1588C>G (p.Leu530Val)
 dbSNP gnomAD v2 gnomAD v4
17g.746467G=CA2242474733GEMIN4c.1576C= (p.Leu526=)
c.1543C= (p.Leu515=)
c.1588C= (p.Leu530=)
17g.746467G>TCA397506799GEMIN4c.1576C>A (p.Leu526Ile)
c.1543C>A (p.Leu515Ile)
c.1588C>A (p.Leu530Ile)
17g.746467_746470delCA2576107248GEMIN4c.1573_1576del (p.Asp525SerfsTer29)
c.1540_1543del (p.Asp514SerfsTer29)
c.1585_1588del (p.Asp529SerfsTer29)
17g.746468G>ACA497384469GEMIN4c.1575C>T (p.Asp525=)
c.1542C>T (p.Asp514=)
c.1587C>T (p.Asp529=)
17g.746468G>CCA397506800GEMIN4c.1575C>G (p.Asp525Glu)
c.1542C>G (p.Asp514Glu)
c.1587C>G (p.Asp529Glu)
17g.746468G>TCA397506801GEMIN4c.1575C>A (p.Asp525Glu)
c.1542C>A (p.Asp514Glu)
c.1587C>A (p.Asp529Glu)
 gnomAD v4
17g.746469T>ACA397506802GEMIN4c.1574A>T (p.Asp525Val)
c.1541A>T (p.Asp514Val)
c.1586A>T (p.Asp529Val)
17g.746469T>CCA397506803GEMIN4c.1574A>G (p.Asp525Gly)
c.1541A>G (p.Asp514Gly)
c.1586A>G (p.Asp529Gly)
17g.746469T>GCA8262608GEMIN4c.1574A>C (p.Asp525Ala)
c.1541A>C (p.Asp514Ala)
c.1586A>C (p.Asp529Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746469T=CA2242474734GEMIN4c.1574A= (p.Asp525=)
c.1541A= (p.Asp514=)
c.1586A= (p.Asp529=)

Number of alleles fetched