Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.746378C>A | CA497384339 | GEMIN4 | c.1665G>T (p.Val555=) c.1632G>T (p.Val544=) c.1677G>T (p.Val559=) | |
17 | g.746378C= | CA2242474687 | GEMIN4 | c.1665G= (p.Val555=) c.1632G= (p.Val544=) c.1677G= (p.Val559=) | |
17 | g.746378C>G | CA497384341 | GEMIN4 | c.1665G>C (p.Val555=) c.1632G>C (p.Val544=) c.1677G>C (p.Val559=) | |
17 | g.746378C>T | CA8262583 | GEMIN4 | c.1665G>A (p.Val555=) c.1632G>A (p.Val544=) c.1677G>A (p.Val559=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746379A= | CA2242474688 | GEMIN4 | c.1664T= (p.Val555=) c.1631T= (p.Val544=) c.1676T= (p.Val559=) | |
17 | g.746379A>C | CA397506618 | GEMIN4 | c.1664T>G (p.Val555Gly) c.1631T>G (p.Val544Gly) c.1676T>G (p.Val559Gly) | |
17 | g.746379A>G | CA397506617 | GEMIN4 | c.1664T>C (p.Val555Ala) c.1631T>C (p.Val544Ala) c.1676T>C (p.Val559Ala) | dbSNP gnomAD v4 |
17 | g.746379A>T | CA397506616 | GEMIN4 | c.1664T>A (p.Val555Glu) c.1631T>A (p.Val544Glu) c.1676T>A (p.Val559Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746380C>A | CA397506619 | GEMIN4 | c.1663G>T (p.Val555Leu) c.1630G>T (p.Val544Leu) c.1675G>T (p.Val559Leu) | |
17 | g.746380C>G | CA397506620 | GEMIN4 | c.1663G>C (p.Val555Leu) c.1630G>C (p.Val544Leu) c.1675G>C (p.Val559Leu) | |
17 | g.746380C>T | CA397506621 | GEMIN4 | c.1663G>A (p.Val555Met) c.1630G>A (p.Val544Met) c.1675G>A (p.Val559Met) | |
17 | g.746381T>A | CA497384342 | GEMIN4 | c.1662A>T (p.Ile554=) c.1629A>T (p.Ile543=) c.1674A>T (p.Ile558=) | |
17 | g.746381T>C | CA8262584 | GEMIN4 | c.1662A>G (p.Ile554Met) c.1629A>G (p.Ile543Met) c.1674A>G (p.Ile558Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746381T>G | CA497384344 | GEMIN4 | c.1662A>C (p.Ile554=) c.1629A>C (p.Ile543=) c.1674A>C (p.Ile558=) | |
17 | g.746381T= | CA2242474689 | GEMIN4 | c.1662A= (p.Ile554=) c.1629A= (p.Ile543=) c.1674A= (p.Ile558=) | |
17 | g.746382A>C | CA397506622 | GEMIN4 | c.1661T>G (p.Ile554Arg) c.1628T>G (p.Ile543Arg) c.1673T>G (p.Ile558Arg) | |
17 | g.746382A>G | CA397506623 | GEMIN4 | c.1661T>C (p.Ile554Thr) c.1628T>C (p.Ile543Thr) c.1673T>C (p.Ile558Thr) | gnomAD v4 |
17 | g.746382A>T | CA397506624 | GEMIN4 | c.1661T>A (p.Ile554Lys) c.1628T>A (p.Ile543Lys) c.1673T>A (p.Ile558Lys) | |
17 | g.746383T>A | CA397506627 | GEMIN4 | c.1660A>T (p.Ile554Leu) c.1627A>T (p.Ile543Leu) c.1672A>T (p.Ile558Leu) | |
17 | g.746383T>C | CA397506625 | GEMIN4 | c.1660A>G (p.Ile554Val) c.1627A>G (p.Ile543Val) c.1672A>G (p.Ile558Val) | gnomAD v4 |
17 | g.746383T>G | CA397506626 | GEMIN4 | c.1660A>C (p.Ile554Leu) c.1627A>C (p.Ile543Leu) c.1672A>C (p.Ile558Leu) | |
17 | g.746384G>A | CA497384347 | GEMIN4 | c.1659C>T (p.Val553=) c.1626C>T (p.Val542=) c.1671C>T (p.Val557=) | COSMIC COSMIC |
17 | g.746384G>C | CA497384348 | GEMIN4 | c.1659C>G (p.Val553=) c.1626C>G (p.Val542=) c.1671C>G (p.Val557=) | |
17 | g.746384G>T | CA497384349 | GEMIN4 | c.1659C>A (p.Val553=) c.1626C>A (p.Val542=) c.1671C>A (p.Val557=) | gnomAD v4 |
17 | g.746385A>C | CA397506628 | GEMIN4 | c.1658T>G (p.Val553Gly) c.1625T>G (p.Val542Gly) c.1670T>G (p.Val557Gly) | |
17 | g.746385A>G | CA397506629 | GEMIN4 | c.1658T>C (p.Val553Ala) c.1625T>C (p.Val542Ala) c.1670T>C (p.Val557Ala) | |
17 | g.746385A>T | CA397506630 | GEMIN4 | c.1658T>A (p.Val553Asp) c.1625T>A (p.Val542Asp) c.1670T>A (p.Val557Asp) | |
17 | g.746386C>A | CA397506631 | GEMIN4 | c.1657G>T (p.Val553Phe) c.1624G>T (p.Val542Phe) c.1669G>T (p.Val557Phe) | |
17 | g.746386C>G | CA397506632 | GEMIN4 | c.1657G>C (p.Val553Leu) c.1624G>C (p.Val542Leu) c.1669G>C (p.Val557Leu) | gnomAD v4 |
17 | g.746386C>T | CA397506633 | GEMIN4 | c.1657G>A (p.Val553Ile) c.1624G>A (p.Val542Ile) c.1669G>A (p.Val557Ile) | |
17 | g.746387C>A | CA497384350 | GEMIN4 | c.1656G>T (p.Leu552=) c.1623G>T (p.Leu541=) c.1668G>T (p.Leu556=) | |
17 | g.746387C>G | CA497384351 | GEMIN4 | c.1656G>C (p.Leu552=) c.1623G>C (p.Leu541=) c.1668G>C (p.Leu556=) | |
17 | g.746387C>T | CA497384352 | GEMIN4 | c.1656G>A (p.Leu552=) c.1623G>A (p.Leu541=) c.1668G>A (p.Leu556=) | |
17 | g.746388A= | CA2242474690 | GEMIN4 | c.1655T= (p.Leu552=) c.1622T= (p.Leu541=) c.1667T= (p.Leu556=) | |
17 | g.746388A>C | CA397506634 | GEMIN4 | c.1655T>G (p.Leu552Arg) c.1622T>G (p.Leu541Arg) c.1667T>G (p.Leu556Arg) | |
17 | g.746388A>G | CA397506636 | GEMIN4 | c.1655T>C (p.Leu552Pro) c.1622T>C (p.Leu541Pro) c.1667T>C (p.Leu556Pro) | |
17 | g.746388A>T | CA397506635 | GEMIN4 | c.1655T>A (p.Leu552Gln) c.1622T>A (p.Leu541Gln) c.1667T>A (p.Leu556Gln) | |
17 | g.746389G>A | CA497384356 | GEMIN4 | c.1654C>T (p.Leu552=) c.1621C>T (p.Leu541=) c.1666C>T (p.Leu556=) | gnomAD v4 |
17 | g.746389G>C | CA397506637 | GEMIN4 | c.1654C>G (p.Leu552Val) c.1621C>G (p.Leu541Val) c.1666C>G (p.Leu556Val) | |
17 | g.746389G>T | CA397506638 | GEMIN4 | c.1654C>A (p.Leu552Met) c.1621C>A (p.Leu541Met) c.1666C>A (p.Leu556Met) | |
17 | g.746390dup | CA8262585 | GEMIN4 | c.1654dup (p.Leu552ProfsTer?) c.1621dup (p.Leu541ProfsTer?) c.1666dup (p.Leu556ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746390G>A | CA497384357 | GEMIN4 | c.1653C>T (p.Arg551=) c.1620C>T (p.Arg540=) c.1665C>T (p.Arg555=) | |
17 | g.746390G>C | CA497384358 | GEMIN4 | c.1653C>G (p.Arg551=) c.1620C>G (p.Arg540=) c.1665C>G (p.Arg555=) | dbSNP |
17 | g.746390G= | CA2242474691 | GEMIN4 | c.1653C= (p.Arg551=) c.1620C= (p.Arg540=) c.1665C= (p.Arg555=) | |
17 | g.746390G>T | CA497384359 | GEMIN4 | c.1653C>A (p.Arg551=) c.1620C>A (p.Arg540=) c.1665C>A (p.Arg555=) | |
17 | g.746391C>A | CA397506639 | GEMIN4 | c.1652G>T (p.Arg551Leu) c.1619G>T (p.Arg540Leu) c.1664G>T (p.Arg555Leu) | |
17 | g.746391C= | CA2242474692 | GEMIN4 | c.1652G= (p.Arg551=) c.1619G= (p.Arg540=) c.1664G= (p.Arg555=) | |
17 | g.746391C>G | CA397506640 | GEMIN4 | c.1652G>C (p.Arg551Pro) c.1619G>C (p.Arg540Pro) c.1664G>C (p.Arg555Pro) | |
17 | g.746391C>T | CA8262586 | GEMIN4 | c.1652G>A (p.Arg551His) c.1619G>A (p.Arg540His) c.1664G>A (p.Arg555His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746392G>A | CA8262587 | GEMIN4 | c.1651C>T (p.Arg551Cys) c.1618C>T (p.Arg540Cys) c.1663C>T (p.Arg555Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746392G>C | CA397506641 | GEMIN4 | c.1651C>G (p.Arg551Gly) c.1618C>G (p.Arg540Gly) c.1663C>G (p.Arg555Gly) | |
17 | g.746392G= | CA2242474693 | GEMIN4 | c.1651C= (p.Arg551=) c.1618C= (p.Arg540=) c.1663C= (p.Arg555=) | |
17 | g.746392G>T | CA397506642 | GEMIN4 | c.1651C>A (p.Arg551Ser) c.1618C>A (p.Arg540Ser) c.1663C>A (p.Arg555Ser) | |
17 | g.746393G>A | CA497384363 | GEMIN4 | c.1650C>T (p.Ala550=) c.1617C>T (p.Ala539=) c.1662C>T (p.Ala554=) | COSMIC |
17 | g.746393G>C | CA497384364 | GEMIN4 | c.1650C>G (p.Ala550=) c.1617C>G (p.Ala539=) c.1662C>G (p.Ala554=) | |
17 | g.746393G>T | CA497384365 | GEMIN4 | c.1650C>A (p.Ala550=) c.1617C>A (p.Ala539=) c.1662C>A (p.Ala554=) | |
17 | g.746394G>A | CA397506643 | GEMIN4 | c.1649C>T (p.Ala550Val) c.1616C>T (p.Ala539Val) c.1661C>T (p.Ala554Val) | |
17 | g.746394G>C | CA397506644 | GEMIN4 | c.1649C>G (p.Ala550Gly) c.1616C>G (p.Ala539Gly) c.1661C>G (p.Ala554Gly) | |
17 | g.746394G>T | CA397506645 | GEMIN4 | c.1649C>A (p.Ala550Asp) c.1616C>A (p.Ala539Asp) c.1661C>A (p.Ala554Asp) | |
17 | g.746395C>A | CA397506646 | GEMIN4 | c.1648G>T (p.Ala550Ser) c.1615G>T (p.Ala539Ser) c.1660G>T (p.Ala554Ser) | |
17 | g.746395C= | CA2242474694 | GEMIN4 | c.1648G= (p.Ala550=) c.1615G= (p.Ala539=) c.1660G= (p.Ala554=) | |
17 | g.746395C>G | CA397506648 | GEMIN4 | c.1648G>C (p.Ala550Pro) c.1615G>C (p.Ala539Pro) c.1660G>C (p.Ala554Pro) | |
17 | g.746395C>T | CA397506647 | GEMIN4 | c.1648G>A (p.Ala550Thr) c.1615G>A (p.Ala539Thr) c.1660G>A (p.Ala554Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746396C>A | CA497384370 | GEMIN4 | c.1647G>T (p.Val549=) c.1614G>T (p.Val538=) c.1659G>T (p.Val553=) | |
17 | g.746396C>G | CA497384371 | GEMIN4 | c.1647G>C (p.Val549=) c.1614G>C (p.Val538=) c.1659G>C (p.Val553=) | |
17 | g.746396C>T | CA497384372 | GEMIN4 | c.1647G>A (p.Val549=) c.1614G>A (p.Val538=) c.1659G>A (p.Val553=) | |
17 | g.746397A>C | CA397506649 | GEMIN4 | c.1646T>G (p.Val549Gly) c.1613T>G (p.Val538Gly) c.1658T>G (p.Val553Gly) | |
17 | g.746397A>G | CA397506650 | GEMIN4 | c.1646T>C (p.Val549Ala) c.1613T>C (p.Val538Ala) c.1658T>C (p.Val553Ala) | |
17 | g.746397A>T | CA397506651 | GEMIN4 | c.1646T>A (p.Val549Glu) c.1613T>A (p.Val538Glu) c.1658T>A (p.Val553Glu) | |
17 | g.746398C>A | CA397506652 | GEMIN4 | c.1645G>T (p.Val549Leu) c.1612G>T (p.Val538Leu) c.1657G>T (p.Val553Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746398C= | CA2242474695 | GEMIN4 | c.1645G= (p.Val549=) c.1612G= (p.Val538=) c.1657G= (p.Val553=) | |
17 | g.746398C>G | CA397506653 | GEMIN4 | c.1645G>C (p.Val549Leu) c.1612G>C (p.Val538Leu) c.1657G>C (p.Val553Leu) | |
17 | g.746398C>T | CA8262588 | GEMIN4 | c.1645G>A (p.Val549Met) c.1612G>A (p.Val538Met) c.1657G>A (p.Val553Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.746399G>A | CA8262589 | GEMIN4 | c.1644C>T (p.Ser548=) c.1611C>T (p.Ser537=) c.1656C>T (p.Ser552=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746399G>C | CA497384375 | GEMIN4 | c.1644C>G (p.Ser548=) c.1611C>G (p.Ser537=) c.1656C>G (p.Ser552=) | |
17 | g.746399G= | CA2242474696 | GEMIN4 | c.1644C= (p.Ser548=) c.1611C= (p.Ser537=) c.1656C= (p.Ser552=) | |
17 | g.746399G>T | CA497384374 | GEMIN4 | c.1644C>A (p.Ser548=) c.1611C>A (p.Ser537=) c.1656C>A (p.Ser552=) | |
17 | g.746400G>A | CA8262590 | GEMIN4 | c.1643C>T (p.Ser548Phe) c.1610C>T (p.Ser537Phe) c.1655C>T (p.Ser552Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.746400G>C | CA397506655 | GEMIN4 | c.1643C>G (p.Ser548Cys) c.1610C>G (p.Ser537Cys) c.1655C>G (p.Ser552Cys) | |
17 | g.746400G= | CA2242474697 | GEMIN4 | c.1643C= (p.Ser548=) c.1610C= (p.Ser537=) c.1655C= (p.Ser552=) | |
17 | g.746400G>T | CA397506654 | GEMIN4 | c.1643C>A (p.Ser548Tyr) c.1610C>A (p.Ser537Tyr) c.1655C>A (p.Ser552Tyr) | |
17 | g.746401A>C | CA397506656 | GEMIN4 | c.1642T>G (p.Ser548Ala) c.1609T>G (p.Ser537Ala) c.1654T>G (p.Ser552Ala) | |
17 | g.746401A>G | CA397506657 | GEMIN4 | c.1642T>C (p.Ser548Pro) c.1609T>C (p.Ser537Pro) c.1654T>C (p.Ser552Pro) | |
17 | g.746401A>T | CA397506658 | GEMIN4 | c.1642T>A (p.Ser548Thr) c.1609T>A (p.Ser537Thr) c.1654T>A (p.Ser552Thr) | |
17 | g.746402G>A | CA8262591 | GEMIN4 | c.1641C>T (p.Ala547=) c.1608C>T (p.Ala536=) c.1653C>T (p.Ala551=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746402G>C | CA497384378 | GEMIN4 | c.1641C>G (p.Ala547=) c.1608C>G (p.Ala536=) c.1653C>G (p.Ala551=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746402G= | CA2242474698 | GEMIN4 | c.1641C= (p.Ala547=) c.1608C= (p.Ala536=) c.1653C= (p.Ala551=) | |
17 | g.746402G>T | CA497384379 | GEMIN4 | c.1641C>A (p.Ala547=) c.1608C>A (p.Ala536=) c.1653C>A (p.Ala551=) | |
17 | g.746403G>A | CA397506659 | GEMIN4 | c.1640C>T (p.Ala547Val) c.1607C>T (p.Ala536Val) c.1652C>T (p.Ala551Val) | COSMIC |
17 | g.746403G>C | CA397506661 | GEMIN4 | c.1640C>G (p.Ala547Gly) c.1607C>G (p.Ala536Gly) c.1652C>G (p.Ala551Gly) | |
17 | g.746403G>T | CA397506660 | GEMIN4 | c.1640C>A (p.Ala547Asp) c.1607C>A (p.Ala536Asp) c.1652C>A (p.Ala551Asp) | |
17 | g.746404C>A | CA397506662 | GEMIN4 | c.1639G>T (p.Ala547Ser) c.1606G>T (p.Ala536Ser) c.1651G>T (p.Ala551Ser) | |
17 | g.746404C>G | CA397506663 | GEMIN4 | c.1639G>C (p.Ala547Pro) c.1606G>C (p.Ala536Pro) c.1651G>C (p.Ala551Pro) | |
17 | g.746404C>T | CA397506664 | GEMIN4 | c.1639G>A (p.Ala547Thr) c.1606G>A (p.Ala536Thr) c.1651G>A (p.Ala551Thr) | |
17 | g.746405C>A | CA497384380 | GEMIN4 | c.1638G>T (p.Val546=) c.1605G>T (p.Val535=) c.1650G>T (p.Val550=) | |
17 | g.746405C= | CA2242474699 | GEMIN4 | c.1638G= (p.Val546=) c.1605G= (p.Val535=) c.1650G= (p.Val550=) | |
17 | g.746405C>G | CA8262592 | GEMIN4 | c.1638G>C (p.Val546=) c.1605G>C (p.Val535=) c.1650G>C (p.Val550=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746405C>T | CA497384381 | GEMIN4 | c.1638G>A (p.Val546=) c.1605G>A (p.Val535=) c.1650G>A (p.Val550=) | |
17 | g.746406A= | CA2242474700 | GEMIN4 | c.1637T= (p.Val546=) c.1604T= (p.Val535=) c.1649T= (p.Val550=) | |
17 | g.746406A>C | CA397506665 | GEMIN4 | c.1637T>G (p.Val546Gly) c.1604T>G (p.Val535Gly) c.1649T>G (p.Val550Gly) | |
17 | g.746406A>G | CA397506666 | GEMIN4 | c.1637T>C (p.Val546Ala) c.1604T>C (p.Val535Ala) c.1649T>C (p.Val550Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746406A>T | CA397506667 | GEMIN4 | c.1637T>A (p.Val546Glu) c.1604T>A (p.Val535Glu) c.1649T>A (p.Val550Glu) | |
17 | g.746407C>A | CA397506668 | GEMIN4 | c.1636G>T (p.Val546Leu) c.1603G>T (p.Val535Leu) c.1648G>T (p.Val550Leu) | |
17 | g.746407C= | CA2242474701 | GEMIN4 | c.1636G= (p.Val546=) c.1603G= (p.Val535=) c.1648G= (p.Val550=) | |
17 | g.746407C>G | CA397506669 | GEMIN4 | c.1636G>C (p.Val546Leu) c.1603G>C (p.Val535Leu) c.1648G>C (p.Val550Leu) | |
17 | g.746407C>T | CA8262593 | GEMIN4 | c.1636G>A (p.Val546Met) c.1603G>A (p.Val535Met) c.1648G>A (p.Val550Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746408A>C | CA497384382 | GEMIN4 | c.1635T>G (p.Ala545=) c.1602T>G (p.Ala534=) c.1647T>G (p.Ala549=) | |
17 | g.746408A>G | CA497384384 | GEMIN4 | c.1635T>C (p.Ala545=) c.1602T>C (p.Ala534=) c.1647T>C (p.Ala549=) | |
17 | g.746408A>T | CA497384386 | GEMIN4 | c.1635T>A (p.Ala545=) c.1602T>A (p.Ala534=) c.1647T>A (p.Ala549=) | |
17 | g.746409G>A | CA397506672 | GEMIN4 | c.1634C>T (p.Ala545Val) c.1601C>T (p.Ala534Val) c.1646C>T (p.Ala549Val) | |
17 | g.746409G>C | CA397506670 | GEMIN4 | c.1634C>G (p.Ala545Gly) c.1601C>G (p.Ala534Gly) c.1646C>G (p.Ala549Gly) | |
17 | g.746409G>T | CA397506671 | GEMIN4 | c.1634C>A (p.Ala545Asp) c.1601C>A (p.Ala534Asp) c.1646C>A (p.Ala549Asp) | |
17 | g.746409_746410delinsGC | CA2242474702 | GEMIN4 | c.1633_1634delinsGC (p.Ala545=) c.1600_1601delinsGC (p.Ala534=) c.1645_1646delinsGC (p.Ala549=) | |
17 | g.746410del | CA8262594 | GEMIN4 | c.1633del (p.Ala545LeufsTer10) c.1600del (p.Ala534LeufsTer10) c.1645del (p.Ala549LeufsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746410C>A | CA397506673 | GEMIN4 | c.1633G>T (p.Ala545Ser) c.1600G>T (p.Ala534Ser) c.1645G>T (p.Ala549Ser) | |
17 | g.746410C>G | CA397506674 | GEMIN4 | c.1633G>C (p.Ala545Pro) c.1600G>C (p.Ala534Pro) c.1645G>C (p.Ala549Pro) | |
17 | g.746410C>T | CA397506675 | GEMIN4 | c.1633G>A (p.Ala545Thr) c.1600G>A (p.Ala534Thr) c.1645G>A (p.Ala549Thr) | gnomAD v4 |
17 | g.746411T>A | CA397506677 | GEMIN4 | c.1632A>T (p.Lys544Asn) c.1599A>T (p.Lys533Asn) c.1644A>T (p.Lys548Asn) | |
17 | g.746411T>C | CA497384389 | GEMIN4 | c.1632A>G (p.Lys544=) c.1599A>G (p.Lys533=) c.1644A>G (p.Lys548=) | gnomAD v4 |
17 | g.746411T>G | CA397506676 | GEMIN4 | c.1632A>C (p.Lys544Asn) c.1599A>C (p.Lys533Asn) c.1644A>C (p.Lys548Asn) | |
17 | g.746412T>A | CA397506678 | GEMIN4 | c.1631A>T (p.Lys544Ile) c.1598A>T (p.Lys533Ile) c.1643A>T (p.Lys548Ile) | |
17 | g.746412T>C | CA397506679 | GEMIN4 | c.1631A>G (p.Lys544Arg) c.1598A>G (p.Lys533Arg) c.1643A>G (p.Lys548Arg) | gnomAD v4 |
17 | g.746412T>G | CA397506680 | GEMIN4 | c.1631A>C (p.Lys544Thr) c.1598A>C (p.Lys533Thr) c.1643A>C (p.Lys548Thr) | |
17 | g.746413T>A | CA397506681 | GEMIN4 | c.1630A>T (p.Lys544Ter) c.1597A>T (p.Lys533Ter) c.1642A>T (p.Lys548Ter) | |
17 | g.746413T>C | CA397506682 | GEMIN4 | c.1630A>G (p.Lys544Glu) c.1597A>G (p.Lys533Glu) c.1642A>G (p.Lys548Glu) | |
17 | g.746413T>G | CA397506683 | GEMIN4 | c.1630A>C (p.Lys544Gln) c.1597A>C (p.Lys533Gln) c.1642A>C (p.Lys548Gln) | |
17 | g.746414T>A | CA497384394 | GEMIN4 | c.1629A>T (p.Ala543=) c.1596A>T (p.Ala532=) c.1641A>T (p.Ala547=) | dbSNP |
17 | g.746414T>C | CA497384392 | GEMIN4 | c.1629A>G (p.Ala543=) c.1596A>G (p.Ala532=) c.1641A>G (p.Ala547=) | |
17 | g.746414T>G | CA497384390 | GEMIN4 | c.1629A>C (p.Ala543=) c.1596A>C (p.Ala532=) c.1641A>C (p.Ala547=) | |
17 | g.746414T= | CA2242474703 | GEMIN4 | c.1629A= (p.Ala543=) c.1596A= (p.Ala532=) c.1641A= (p.Ala547=) | |
17 | g.746415G>A | CA397506684 | GEMIN4 | c.1628C>T (p.Ala543Val) c.1595C>T (p.Ala532Val) c.1640C>T (p.Ala547Val) | |
17 | g.746415G>C | CA397506685 | GEMIN4 | c.1628C>G (p.Ala543Gly) c.1595C>G (p.Ala532Gly) c.1640C>G (p.Ala547Gly) | |
17 | g.746415G>T | CA397506686 | GEMIN4 | c.1628C>A (p.Ala543Glu) c.1595C>A (p.Ala532Glu) c.1640C>A (p.Ala547Glu) | |
17 | g.746416C>A | CA397506687 | GEMIN4 | c.1627G>T (p.Ala543Ser) c.1594G>T (p.Ala532Ser) c.1639G>T (p.Ala547Ser) | dbSNP |
17 | g.746416C>G | CA397506688 | GEMIN4 | c.1627G>C (p.Ala543Pro) c.1594G>C (p.Ala532Pro) c.1639G>C (p.Ala547Pro) | |
17 | g.746416C>T | CA397506689 | GEMIN4 | c.1627G>A (p.Ala543Thr) c.1594G>A (p.Ala532Thr) c.1639G>A (p.Ala547Thr) | |
17 | g.746417C>A | CA397506690 | GEMIN4 | c.1626G>T (p.Leu542Phe) c.1593G>T (p.Leu531Phe) c.1638G>T (p.Leu546Phe) | |
17 | g.746417C= | CA2242474704 | GEMIN4 | c.1626G= (p.Leu542=) c.1593G= (p.Leu531=) c.1638G= (p.Leu546=) | |
17 | g.746417C>G | CA397506691 | GEMIN4 | c.1626G>C (p.Leu542Phe) c.1593G>C (p.Leu531Phe) c.1638G>C (p.Leu546Phe) | dbSNP |
17 | g.746417C>T | CA497384395 | GEMIN4 | c.1626G>A (p.Leu542=) c.1593G>A (p.Leu531=) c.1638G>A (p.Leu546=) | dbSNP |
17 | g.746418A= | CA2242474705 | GEMIN4 | c.1625T= (p.Leu542=) c.1592T= (p.Leu531=) c.1637T= (p.Leu546=) | |
17 | g.746418A>C | CA397506692 | GEMIN4 | c.1625T>G (p.Leu542Trp) c.1592T>G (p.Leu531Trp) c.1637T>G (p.Leu546Trp) | |
17 | g.746418A>G | CA397506693 | GEMIN4 | c.1625T>C (p.Leu542Ser) c.1592T>C (p.Leu531Ser) c.1637T>C (p.Leu546Ser) | dbSNP |
17 | g.746418A>T | CA397506694 | GEMIN4 | c.1625T>A (p.Leu542Ter) c.1592T>A (p.Leu531Ter) c.1637T>A (p.Leu546Ter) | |
17 | g.746419A= | CA2242474706 | GEMIN4 | c.1624T= (p.Leu542=) c.1591T= (p.Leu531=) c.1636T= (p.Leu546=) | |
17 | g.746419A>C | CA397506695 | GEMIN4 | c.1624T>G (p.Leu542Val) c.1591T>G (p.Leu531Val) c.1636T>G (p.Leu546Val) | |
17 | g.746419A>G | CA8262595 | GEMIN4 | c.1624T>C (p.Leu542=) c.1591T>C (p.Leu531=) c.1636T>C (p.Leu546=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746419A>T | CA397506696 | GEMIN4 | c.1624T>A (p.Leu542Met) c.1591T>A (p.Leu531Met) c.1636T>A (p.Leu546Met) | |
17 | g.746420G>A | CA497384399 | GEMIN4 | c.1623C>T (p.Gly541=) c.1590C>T (p.Gly530=) c.1635C>T (p.Gly545=) | |
17 | g.746420G>C | CA497384400 | GEMIN4 | c.1623C>G (p.Gly541=) c.1590C>G (p.Gly530=) c.1635C>G (p.Gly545=) | dbSNP |
17 | g.746420G= | CA2242474707 | GEMIN4 | c.1623C= (p.Gly541=) c.1590C= (p.Gly530=) c.1635C= (p.Gly545=) | |
17 | g.746420G>T | CA497384401 | GEMIN4 | c.1623C>A (p.Gly541=) c.1590C>A (p.Gly530=) c.1635C>A (p.Gly545=) | |
17 | g.746421C>A | CA397506697 | GEMIN4 | c.1622G>T (p.Gly541Val) c.1589G>T (p.Gly530Val) c.1634G>T (p.Gly545Val) | |
17 | g.746421C= | CA2242474708 | GEMIN4 | c.1622G= (p.Gly541=) c.1589G= (p.Gly530=) c.1634G= (p.Gly545=) | |
17 | g.746421C>G | CA397506698 | GEMIN4 | c.1622G>C (p.Gly541Ala) c.1589G>C (p.Gly530Ala) c.1634G>C (p.Gly545Ala) | gnomAD v4 |
17 | g.746421C>T | CA8262596 | GEMIN4 | c.1622G>A (p.Gly541Asp) c.1589G>A (p.Gly530Asp) c.1634G>A (p.Gly545Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746423dup | CA2635153330 | GEMIN4 | c.1622dup (p.Ala543GlyfsTer?) c.1589dup (p.Ala532GlyfsTer?) c.1634dup (p.Ala547GlyfsTer?) | gnomAD v4 |
17 | g.746422C>A | CA397506699 | GEMIN4 | c.1621G>T (p.Gly541Cys) c.1588G>T (p.Gly530Cys) c.1633G>T (p.Gly545Cys) | |
17 | g.746422C>G | CA397506700 | GEMIN4 | c.1621G>C (p.Gly541Arg) c.1588G>C (p.Gly530Arg) c.1633G>C (p.Gly545Arg) | |
17 | g.746422C>T | CA397506701 | GEMIN4 | c.1621G>A (p.Gly541Ser) c.1588G>A (p.Gly530Ser) c.1633G>A (p.Gly545Ser) | |
17 | g.746423C>A | CA397506702 | GEMIN4 | c.1620G>T (p.Gln540His) c.1587G>T (p.Gln529His) c.1632G>T (p.Gln544His) | |
17 | g.746423C>G | CA397506703 | GEMIN4 | c.1620G>C (p.Gln540His) c.1587G>C (p.Gln529His) c.1632G>C (p.Gln544His) | |
17 | g.746423C>T | CA497384403 | GEMIN4 | c.1620G>A (p.Gln540=) c.1587G>A (p.Gln529=) c.1632G>A (p.Gln544=) | |
17 | g.746424T>A | CA397506704 | GEMIN4 | c.1619A>T (p.Gln540Leu) c.1586A>T (p.Gln529Leu) c.1631A>T (p.Gln544Leu) | |
17 | g.746424T>C | CA397506705 | GEMIN4 | c.1619A>G (p.Gln540Arg) c.1586A>G (p.Gln529Arg) c.1631A>G (p.Gln544Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746424T>G | CA397506706 | GEMIN4 | c.1619A>C (p.Gln540Pro) c.1586A>C (p.Gln529Pro) c.1631A>C (p.Gln544Pro) | |
17 | g.746424T= | CA2242474709 | GEMIN4 | c.1619A= (p.Gln540=) c.1586A= (p.Gln529=) c.1631A= (p.Gln544=) | |
17 | g.746425G>A | CA397506707 | GEMIN4 | c.1618C>T (p.Gln540Ter) c.1585C>T (p.Gln529Ter) c.1630C>T (p.Gln544Ter) | |
17 | g.746425G>C | CA397506708 | GEMIN4 | c.1618C>G (p.Gln540Glu) c.1585C>G (p.Gln529Glu) c.1630C>G (p.Gln544Glu) | gnomAD v4 |
17 | g.746425G>T | CA397506709 | GEMIN4 | c.1618C>A (p.Gln540Lys) c.1585C>A (p.Gln529Lys) c.1630C>A (p.Gln544Lys) | |
17 | g.746426T>A | CA397506710 | GEMIN4 | c.1617A>T (p.Glu539Asp) c.1584A>T (p.Glu528Asp) c.1629A>T (p.Glu543Asp) | |
17 | g.746426T>C | CA8262597 | GEMIN4 | c.1617A>G (p.Glu539=) c.1584A>G (p.Glu528=) c.1629A>G (p.Glu543=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746426T>G | CA397506711 | GEMIN4 | c.1617A>C (p.Glu539Asp) c.1584A>C (p.Glu528Asp) c.1629A>C (p.Glu543Asp) | |
17 | g.746426T= | CA2242474710 | GEMIN4 | c.1617A= (p.Glu539=) c.1584A= (p.Glu528=) c.1629A= (p.Glu543=) | |
17 | g.746427T>A | CA397506712 | GEMIN4 | c.1616A>T (p.Glu539Val) c.1583A>T (p.Glu528Val) c.1628A>T (p.Glu543Val) | |
17 | g.746427T>C | CA397506713 | GEMIN4 | c.1616A>G (p.Glu539Gly) c.1583A>G (p.Glu528Gly) c.1628A>G (p.Glu543Gly) | gnomAD v4 |
17 | g.746427T>G | CA397506714 | GEMIN4 | c.1616A>C (p.Glu539Ala) c.1583A>C (p.Glu528Ala) c.1628A>C (p.Glu543Ala) | |
17 | g.746428C>A | CA397506717 | GEMIN4 | c.1615G>T (p.Glu539Ter) c.1582G>T (p.Glu528Ter) c.1627G>T (p.Glu543Ter) | |
17 | g.746428C= | CA2242474711 | GEMIN4 | c.1615G= (p.Glu539=) c.1582G= (p.Glu528=) c.1627G= (p.Glu543=) | |
17 | g.746428C>G | CA397506716 | GEMIN4 | c.1615G>C (p.Glu539Gln) c.1582G>C (p.Glu528Gln) c.1627G>C (p.Glu543Gln) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746428C>T | CA397506715 | GEMIN4 | c.1615G>A (p.Glu539Lys) c.1582G>A (p.Glu528Lys) c.1627G>A (p.Glu543Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746429G>A | CA8262598 | GEMIN4 | c.1614C>T (p.Ser538=) c.1581C>T (p.Ser527=) c.1626C>T (p.Ser542=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746429G>C | CA497384414 | GEMIN4 | c.1614C>G (p.Ser538=) c.1581C>G (p.Ser527=) c.1626C>G (p.Ser542=) | |
17 | g.746429G= | CA2242474712 | GEMIN4 | c.1614C= (p.Ser538=) c.1581C= (p.Ser527=) c.1626C= (p.Ser542=) | |
17 | g.746429G>T | CA497384415 | GEMIN4 | c.1614C>A (p.Ser538=) c.1581C>A (p.Ser527=) c.1626C>A (p.Ser542=) | |
17 | g.746430G>A | CA397506718 | GEMIN4 | c.1613C>T (p.Ser538Phe) c.1580C>T (p.Ser527Phe) c.1625C>T (p.Ser542Phe) | dbSNP gnomAD v4 |
17 | g.746430G>C | CA397506719 | GEMIN4 | c.1613C>G (p.Ser538Cys) c.1580C>G (p.Ser527Cys) c.1625C>G (p.Ser542Cys) | |
17 | g.746430G= | CA2242474713 | GEMIN4 | c.1613C= (p.Ser538=) c.1580C= (p.Ser527=) c.1625C= (p.Ser542=) | |
17 | g.746430G>T | CA397506720 | GEMIN4 | c.1613C>A (p.Ser538Tyr) c.1580C>A (p.Ser527Tyr) c.1625C>A (p.Ser542Tyr) | |
17 | g.746431A= | CA2242474714 | GEMIN4 | c.1612T= (p.Ser538=) c.1579T= (p.Ser527=) c.1624T= (p.Ser542=) | |
17 | g.746431A>C | CA397506721 | GEMIN4 | c.1612T>G (p.Ser538Ala) c.1579T>G (p.Ser527Ala) c.1624T>G (p.Ser542Ala) | |
17 | g.746431A>G | CA397506722 | GEMIN4 | c.1612T>C (p.Ser538Pro) c.1579T>C (p.Ser527Pro) c.1624T>C (p.Ser542Pro) | |
17 | g.746431A>T | CA8262599 | GEMIN4 | c.1612T>A (p.Ser538Thr) c.1579T>A (p.Ser527Thr) c.1624T>A (p.Ser542Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746432G>A | CA497384421 | GEMIN4 | c.1611C>T (p.Ala537=) c.1578C>T (p.Ala526=) c.1623C>T (p.Ala541=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746432G>C | CA497384422 | GEMIN4 | c.1611C>G (p.Ala537=) c.1578C>G (p.Ala526=) c.1623C>G (p.Ala541=) | |
17 | g.746432G= | CA2242474715 | GEMIN4 | c.1611C= (p.Ala537=) c.1578C= (p.Ala526=) c.1623C= (p.Ala541=) | |
17 | g.746432G>T | CA497384423 | GEMIN4 | c.1611C>A (p.Ala537=) c.1578C>A (p.Ala526=) c.1623C>A (p.Ala541=) | |
17 | g.746433G>A | CA397506723 | GEMIN4 | c.1610C>T (p.Ala537Val) c.1577C>T (p.Ala526Val) c.1622C>T (p.Ala541Val) | |
17 | g.746433G>C | CA397506724 | GEMIN4 | c.1610C>G (p.Ala537Gly) c.1577C>G (p.Ala526Gly) c.1622C>G (p.Ala541Gly) | |
17 | g.746433G>T | CA397506725 | GEMIN4 | c.1610C>A (p.Ala537Asp) c.1577C>A (p.Ala526Asp) c.1622C>A (p.Ala541Asp) | |
17 | g.746434C>A | CA397506726 | GEMIN4 | c.1609G>T (p.Ala537Ser) c.1576G>T (p.Ala526Ser) c.1621G>T (p.Ala541Ser) | |
17 | g.746434C= | CA2242474716 | GEMIN4 | c.1609G= (p.Ala537=) c.1576G= (p.Ala526=) c.1621G= (p.Ala541=) | |
17 | g.746434C>G | CA397506727 | GEMIN4 | c.1609G>C (p.Ala537Pro) c.1576G>C (p.Ala526Pro) c.1621G>C (p.Ala541Pro) | dbSNP gnomAD v4 |
17 | g.746434C>T | CA397506728 | GEMIN4 | c.1609G>A (p.Ala537Thr) c.1576G>A (p.Ala526Thr) c.1621G>A (p.Ala541Thr) | dbSNP gnomAD v4 |
17 | g.746435A>C | CA397506730 | GEMIN4 | c.1608T>G (p.Ser536Arg) c.1575T>G (p.Ser525Arg) c.1620T>G (p.Ser540Arg) | |
17 | g.746435A>G | CA497384428 | GEMIN4 | c.1608T>C (p.Ser536=) c.1575T>C (p.Ser525=) c.1620T>C (p.Ser540=) | |
17 | g.746435A>T | CA397506729 | GEMIN4 | c.1608T>A (p.Ser536Arg) c.1575T>A (p.Ser525Arg) c.1620T>A (p.Ser540Arg) | |
17 | g.746436C>A | CA397506731 | GEMIN4 | c.1607G>T (p.Ser536Ile) c.1574G>T (p.Ser525Ile) c.1619G>T (p.Ser540Ile) | |
17 | g.746436C>G | CA397506732 | GEMIN4 | c.1607G>C (p.Ser536Thr) c.1574G>C (p.Ser525Thr) c.1619G>C (p.Ser540Thr) | |
17 | g.746436C>T | CA397506733 | GEMIN4 | c.1607G>A (p.Ser536Asn) c.1574G>A (p.Ser525Asn) c.1619G>A (p.Ser540Asn) | |
17 | g.746437T>A | CA397506734 | GEMIN4 | c.1606A>T (p.Ser536Cys) c.1573A>T (p.Ser525Cys) c.1618A>T (p.Ser540Cys) | |
17 | g.746437T>C | CA397506735 | GEMIN4 | c.1606A>G (p.Ser536Gly) c.1573A>G (p.Ser525Gly) c.1618A>G (p.Ser540Gly) | |
17 | g.746437T>G | CA397506736 | GEMIN4 | c.1606A>C (p.Ser536Arg) c.1573A>C (p.Ser525Arg) c.1618A>C (p.Ser540Arg) | |
17 | g.746438C>A | CA397506737 | GEMIN4 | c.1605G>T (p.Gln535His) c.1572G>T (p.Gln524His) c.1617G>T (p.Gln539His) | |
17 | g.746438C>G | CA397506738 | GEMIN4 | c.1605G>C (p.Gln535His) c.1572G>C (p.Gln524His) c.1617G>C (p.Gln539His) | |
17 | g.746438C>T | CA497384429 | GEMIN4 | c.1605G>A (p.Gln535=) c.1572G>A (p.Gln524=) c.1617G>A (p.Gln539=) | |
17 | g.746438_746442delinsCTGAG | CA2242474717 | GEMIN4 | c.1601_1605delinsCTCAG (p.Thr534=) c.1568_1572delinsCTCAG (p.Thr523=) c.1613_1617delinsCTCAG (p.Thr538=) | |
17 | g.746439T>A | CA397506739 | GEMIN4 | c.1604A>T (p.Gln535Leu) c.1571A>T (p.Gln524Leu) c.1616A>T (p.Gln539Leu) | |
17 | g.746439T>C | CA397506741 | GEMIN4 | c.1604A>G (p.Gln535Arg) c.1571A>G (p.Gln524Arg) c.1616A>G (p.Gln539Arg) | |
17 | g.746439T>G | CA397506740 | GEMIN4 | c.1604A>C (p.Gln535Pro) c.1571A>C (p.Gln524Pro) c.1616A>C (p.Gln539Pro) | |
17 | g.746443_746446del | CA8262600 | GEMIN4 | c.1601_1604del (p.Thr534ArgfsTer20) c.1568_1571del (p.Thr523ArgfsTer20) c.1613_1616del (p.Thr538ArgfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746440G>A | CA397506742 | GEMIN4 | c.1603C>T (p.Gln535Ter) c.1570C>T (p.Gln524Ter) c.1615C>T (p.Gln539Ter) | |
17 | g.746440G>C | CA397506743 | GEMIN4 | c.1603C>G (p.Gln535Glu) c.1570C>G (p.Gln524Glu) c.1615C>G (p.Gln539Glu) | |
17 | g.746440G>T | CA397506744 | GEMIN4 | c.1603C>A (p.Gln535Lys) c.1570C>A (p.Gln524Lys) c.1615C>A (p.Gln539Lys) | |
17 | g.746441A= | CA2242474718 | GEMIN4 | c.1602T= (p.Thr534=) c.1569T= (p.Thr523=) c.1614T= (p.Thr538=) | |
17 | g.746441A>C | CA497384434 | GEMIN4 | c.1602T>G (p.Thr534=) c.1569T>G (p.Thr523=) c.1614T>G (p.Thr538=) | |
17 | g.746441A>G | CA497384435 | GEMIN4 | c.1602T>C (p.Thr534=) c.1569T>C (p.Thr523=) c.1614T>C (p.Thr538=) | |
17 | g.746441A>T | CA497384436 | GEMIN4 | c.1602T>A (p.Thr534=) c.1569T>A (p.Thr523=) c.1614T>A (p.Thr538=) | dbSNP |
17 | g.746442G>A | CA8262601 | GEMIN4 | c.1601C>T (p.Thr534Ile) c.1568C>T (p.Thr523Ile) c.1613C>T (p.Thr538Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746442G>C | CA397506746 | GEMIN4 | c.1601C>G (p.Thr534Ser) c.1568C>G (p.Thr523Ser) c.1613C>G (p.Thr538Ser) | |
17 | g.746442G= | CA2242474719 | GEMIN4 | c.1601C= (p.Thr534=) c.1568C= (p.Thr523=) c.1613C= (p.Thr538=) | |
17 | g.746442G>T | CA397506745 | GEMIN4 | c.1601C>A (p.Thr534Asn) c.1568C>A (p.Thr523Asn) c.1613C>A (p.Thr538Asn) | |
17 | g.746443T>A | CA397506747 | GEMIN4 | c.1600A>T (p.Thr534Ser) c.1567A>T (p.Thr523Ser) c.1612A>T (p.Thr538Ser) | |
17 | g.746443T>C | CA397506748 | GEMIN4 | c.1600A>G (p.Thr534Ala) c.1567A>G (p.Thr523Ala) c.1612A>G (p.Thr538Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746443T>G | CA397506749 | GEMIN4 | c.1600A>C (p.Thr534Pro) c.1567A>C (p.Thr523Pro) c.1612A>C (p.Thr538Pro) | |
17 | g.746443T= | CA2242474720 | GEMIN4 | c.1600A= (p.Thr534=) c.1567A= (p.Thr523=) c.1612A= (p.Thr538=) | |
17 | g.746444G>A | CA286713687 | GEMIN4 | c.1599C>T (p.Leu533=) c.1566C>T (p.Leu522=) c.1611C>T (p.Leu537=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746444G>C | CA497384439 | GEMIN4 | c.1599C>G (p.Leu533=) c.1566C>G (p.Leu522=) c.1611C>G (p.Leu537=) | |
17 | g.746444G= | CA2242474721 | GEMIN4 | c.1599C= (p.Leu533=) c.1566C= (p.Leu522=) c.1611C= (p.Leu537=) | |
17 | g.746444G>T | CA497384440 | GEMIN4 | c.1599C>A (p.Leu533=) c.1566C>A (p.Leu522=) c.1611C>A (p.Leu537=) | |
17 | g.746445A>C | CA397506750 | GEMIN4 | c.1598T>G (p.Leu533Arg) c.1565T>G (p.Leu522Arg) c.1610T>G (p.Leu537Arg) | |
17 | g.746445A>G | CA397506751 | GEMIN4 | c.1598T>C (p.Leu533Pro) c.1565T>C (p.Leu522Pro) c.1610T>C (p.Leu537Pro) | |
17 | g.746445A>T | CA397506752 | GEMIN4 | c.1598T>A (p.Leu533His) c.1565T>A (p.Leu522His) c.1610T>A (p.Leu537His) | |
17 | g.746446G>A | CA397506753 | GEMIN4 | c.1597C>T (p.Leu533Phe) c.1564C>T (p.Leu522Phe) c.1609C>T (p.Leu537Phe) | gnomAD v4 |
17 | g.746446G>C | CA397506754 | GEMIN4 | c.1597C>G (p.Leu533Val) c.1564C>G (p.Leu522Val) c.1609C>G (p.Leu537Val) | |
17 | g.746446G= | CA2242474722 | GEMIN4 | c.1597C= (p.Leu533=) c.1564C= (p.Leu522=) c.1609C= (p.Leu537=) | |
17 | g.746446G>T | CA397506755 | GEMIN4 | c.1597C>A (p.Leu533Ile) c.1564C>A (p.Leu522Ile) c.1609C>A (p.Leu537Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746447C>A | CA397506756 | GEMIN4 | c.1596G>T (p.Gln532His) c.1563G>T (p.Gln521His) c.1608G>T (p.Gln536His) | |
17 | g.746447C= | CA2242474723 | GEMIN4 | c.1596G= (p.Gln532=) c.1563G= (p.Gln521=) c.1608G= (p.Gln536=) | |
17 | g.746447C>G | CA8262602 | GEMIN4 | c.1596G>C (p.Gln532His) c.1563G>C (p.Gln521His) c.1608G>C (p.Gln536His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746447C>T | CA497384443 | GEMIN4 | c.1596G>A (p.Gln532=) c.1563G>A (p.Gln521=) c.1608G>A (p.Gln536=) | |
17 | g.746448T>A | CA397506759 | GEMIN4 | c.1595A>T (p.Gln532Leu) c.1562A>T (p.Gln521Leu) c.1607A>T (p.Gln536Leu) | |
17 | g.746448T>C | CA397506757 | GEMIN4 | c.1595A>G (p.Gln532Arg) c.1562A>G (p.Gln521Arg) c.1607A>G (p.Gln536Arg) | |
17 | g.746448T>G | CA397506758 | GEMIN4 | c.1595A>C (p.Gln532Pro) c.1562A>C (p.Gln521Pro) c.1607A>C (p.Gln536Pro) | |
17 | g.746449G>A | CA397506760 | GEMIN4 | c.1594C>T (p.Gln532Ter) c.1561C>T (p.Gln521Ter) c.1606C>T (p.Gln536Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746449G>C | CA397506761 | GEMIN4 | c.1594C>G (p.Gln532Glu) c.1561C>G (p.Gln521Glu) c.1606C>G (p.Gln536Glu) | gnomAD v4 |
17 | g.746449G= | CA2242474724 | GEMIN4 | c.1594C= (p.Gln532=) c.1561C= (p.Gln521=) c.1606C= (p.Gln536=) | |
17 | g.746449G>T | CA397506762 | GEMIN4 | c.1594C>A (p.Gln532Lys) c.1561C>A (p.Gln521Lys) c.1606C>A (p.Gln536Lys) | gnomAD v4 |
17 | g.746450G>A | CA497384445 | GEMIN4 | c.1593C>T (p.Asn531=) c.1560C>T (p.Asn520=) c.1605C>T (p.Asn535=) | |
17 | g.746450G>C | CA8262603 | GEMIN4 | c.1593C>G (p.Asn531Lys) c.1560C>G (p.Asn520Lys) c.1605C>G (p.Asn535Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746450G= | CA2242474725 | GEMIN4 | c.1593C= (p.Asn531=) c.1560C= (p.Asn520=) c.1605C= (p.Asn535=) | |
17 | g.746450G>T | CA397506763 | GEMIN4 | c.1593C>A (p.Asn531Lys) c.1560C>A (p.Asn520Lys) c.1605C>A (p.Asn535Lys) | |
17 | g.746451T>A | CA397506764 | GEMIN4 | c.1592A>T (p.Asn531Ile) c.1559A>T (p.Asn520Ile) c.1604A>T (p.Asn535Ile) | |
17 | g.746451T>C | CA397506765 | GEMIN4 | c.1592A>G (p.Asn531Ser) c.1559A>G (p.Asn520Ser) c.1604A>G (p.Asn535Ser) | dbSNP gnomAD v4 |
17 | g.746451T>G | CA397506766 | GEMIN4 | c.1592A>C (p.Asn531Thr) c.1559A>C (p.Asn520Thr) c.1604A>C (p.Asn535Thr) | |
17 | g.746452T>A | CA397506767 | GEMIN4 | c.1591A>T (p.Asn531Tyr) c.1558A>T (p.Asn520Tyr) c.1603A>T (p.Asn535Tyr) | |
17 | g.746452T>C | CA397506768 | GEMIN4 | c.1591A>G (p.Asn531Asp) c.1558A>G (p.Asn520Asp) c.1603A>G (p.Asn535Asp) | |
17 | g.746452T>G | CA397506769 | GEMIN4 | c.1591A>C (p.Asn531His) c.1558A>C (p.Asn520His) c.1603A>C (p.Asn535His) | |
17 | g.746453A>C | CA397506770 | GEMIN4 | c.1590T>G (p.Phe530Leu) c.1557T>G (p.Phe519Leu) c.1602T>G (p.Phe534Leu) | |
17 | g.746453A>G | CA497384447 | GEMIN4 | c.1590T>C (p.Phe530=) c.1557T>C (p.Phe519=) c.1602T>C (p.Phe534=) | |
17 | g.746453A>T | CA397506771 | GEMIN4 | c.1590T>A (p.Phe530Leu) c.1557T>A (p.Phe519Leu) c.1602T>A (p.Phe534Leu) | |
17 | g.746454A= | CA2242474726 | GEMIN4 | c.1589T= (p.Phe530=) c.1556T= (p.Phe519=) c.1601T= (p.Phe534=) | |
17 | g.746454A>C | CA8262604 | GEMIN4 | c.1589T>G (p.Phe530Cys) c.1556T>G (p.Phe519Cys) c.1601T>G (p.Phe534Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746454A>G | CA397506772 | GEMIN4 | c.1589T>C (p.Phe530Ser) c.1556T>C (p.Phe519Ser) c.1601T>C (p.Phe534Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746454A>T | CA397506773 | GEMIN4 | c.1589T>A (p.Phe530Tyr) c.1556T>A (p.Phe519Tyr) c.1601T>A (p.Phe534Tyr) | |
17 | g.746455A>C | CA397506774 | GEMIN4 | c.1588T>G (p.Phe530Val) c.1555T>G (p.Phe519Val) c.1600T>G (p.Phe534Val) | |
17 | g.746455A>G | CA397506775 | GEMIN4 | c.1588T>C (p.Phe530Leu) c.1555T>C (p.Phe519Leu) c.1600T>C (p.Phe534Leu) | |
17 | g.746455A>T | CA397506776 | GEMIN4 | c.1588T>A (p.Phe530Ile) c.1555T>A (p.Phe519Ile) c.1600T>A (p.Phe534Ile) | |
17 | g.746456A= | CA2242474727 | GEMIN4 | c.1587T= (p.Thr529=) c.1554T= (p.Thr518=) c.1599T= (p.Thr533=) | |
17 | g.746456A>C | CA497384452 | GEMIN4 | c.1587T>G (p.Thr529=) c.1554T>G (p.Thr518=) c.1599T>G (p.Thr533=) | dbSNP |
17 | g.746456A>G | CA497384453 | GEMIN4 | c.1587T>C (p.Thr529=) c.1554T>C (p.Thr518=) c.1599T>C (p.Thr533=) | |
17 | g.746456A>T | CA497384454 | GEMIN4 | c.1587T>A (p.Thr529=) c.1554T>A (p.Thr518=) c.1599T>A (p.Thr533=) | |
17 | g.746457G>A | CA397506777 | GEMIN4 | c.1586C>T (p.Thr529Ile) c.1553C>T (p.Thr518Ile) c.1598C>T (p.Thr533Ile) | |
17 | g.746457G>C | CA397506778 | GEMIN4 | c.1586C>G (p.Thr529Ser) c.1553C>G (p.Thr518Ser) c.1598C>G (p.Thr533Ser) | |
17 | g.746457G>T | CA397506779 | GEMIN4 | c.1586C>A (p.Thr529Asn) c.1553C>A (p.Thr518Asn) c.1598C>A (p.Thr533Asn) | |
17 | g.746458T>A | CA8262605 | GEMIN4 | c.1585A>T (p.Thr529Ser) c.1552A>T (p.Thr518Ser) c.1597A>T (p.Thr533Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746458T>C | CA397506780 | GEMIN4 | c.1585A>G (p.Thr529Ala) c.1552A>G (p.Thr518Ala) c.1597A>G (p.Thr533Ala) | gnomAD v4 |
17 | g.746458T>G | CA397506781 | GEMIN4 | c.1585A>C (p.Thr529Pro) c.1552A>C (p.Thr518Pro) c.1597A>C (p.Thr533Pro) | |
17 | g.746458T= | CA2242474728 | GEMIN4 | c.1585A= (p.Thr529=) c.1552A= (p.Thr518=) c.1597A= (p.Thr533=) | |
17 | g.746459T>A | CA497384458 | GEMIN4 | c.1584A>T (p.Thr528=) c.1551A>T (p.Thr517=) c.1596A>T (p.Thr532=) | |
17 | g.746459T>C | CA497384459 | GEMIN4 | c.1584A>G (p.Thr528=) c.1551A>G (p.Thr517=) c.1596A>G (p.Thr532=) | dbSNP gnomAD v2 |
17 | g.746459T>G | CA497384460 | GEMIN4 | c.1584A>C (p.Thr528=) c.1551A>C (p.Thr517=) c.1596A>C (p.Thr532=) | |
17 | g.746459T= | CA2242474729 | GEMIN4 | c.1584A= (p.Thr528=) c.1551A= (p.Thr517=) c.1596A= (p.Thr532=) | |
17 | g.746460G>A | CA397506782 | GEMIN4 | c.1583C>T (p.Thr528Ile) c.1550C>T (p.Thr517Ile) c.1595C>T (p.Thr532Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746460G>C | CA8262606 | GEMIN4 | c.1583C>G (p.Thr528Arg) c.1550C>G (p.Thr517Arg) c.1595C>G (p.Thr532Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746460G= | CA2242474730 | GEMIN4 | c.1583C= (p.Thr528=) c.1550C= (p.Thr517=) c.1595C= (p.Thr532=) | |
17 | g.746460G>T | CA397506783 | GEMIN4 | c.1583C>A (p.Thr528Lys) c.1550C>A (p.Thr517Lys) c.1595C>A (p.Thr532Lys) | |
17 | g.746461T>A | CA397506784 | GEMIN4 | c.1582A>T (p.Thr528Ser) c.1549A>T (p.Thr517Ser) c.1594A>T (p.Thr532Ser) | |
17 | g.746461T>C | CA397506786 | GEMIN4 | c.1582A>G (p.Thr528Ala) c.1549A>G (p.Thr517Ala) c.1594A>G (p.Thr532Ala) | |
17 | g.746461T>G | CA397506785 | GEMIN4 | c.1582A>C (p.Thr528Pro) c.1549A>C (p.Thr517Pro) c.1594A>C (p.Thr532Pro) | |
17 | g.746462A= | CA2242474731 | GEMIN4 | c.1581T= (p.Asn527=) c.1548T= (p.Asn516=) c.1593T= (p.Asn531=) | |
17 | g.746462A>C | CA397506787 | GEMIN4 | c.1581T>G (p.Asn527Lys) c.1548T>G (p.Asn516Lys) c.1593T>G (p.Asn531Lys) | |
17 | g.746462A>G | CA497384464 | GEMIN4 | c.1581T>C (p.Asn527=) c.1548T>C (p.Asn516=) c.1593T>C (p.Asn531=) | dbSNP |
17 | g.746462A>T | CA397506788 | GEMIN4 | c.1581T>A (p.Asn527Lys) c.1548T>A (p.Asn516Lys) c.1593T>A (p.Asn531Lys) | |
17 | g.746463T>A | CA397506789 | GEMIN4 | c.1580A>T (p.Asn527Ile) c.1547A>T (p.Asn516Ile) c.1592A>T (p.Asn531Ile) | |
17 | g.746463T>C | CA8262607 | GEMIN4 | c.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 |
17 | g.746463T>G | CA397506790 | GEMIN4 | c.1580A>C (p.Asn527Thr) c.1547A>C (p.Asn516Thr) c.1592A>C (p.Asn531Thr) | |
17 | g.746463T= | CA2242474732 | GEMIN4 | c.1580A= (p.Asn527=) c.1547A= (p.Asn516=) c.1592A= (p.Asn531=) | |
17 | g.746464T>A | CA397506791 | GEMIN4 | c.1579A>T (p.Asn527Tyr) c.1546A>T (p.Asn516Tyr) c.1591A>T (p.Asn531Tyr) | |
17 | g.746464T>C | CA397506793 | GEMIN4 | c.1579A>G (p.Asn527Asp) c.1546A>G (p.Asn516Asp) c.1591A>G (p.Asn531Asp) | |
17 | g.746464T>G | CA397506792 | GEMIN4 | c.1579A>C (p.Asn527His) c.1546A>C (p.Asn516His) c.1591A>C (p.Asn531His) | |
17 | g.746465G>A | CA497384465 | GEMIN4 | c.1578C>T (p.Leu526=) c.1545C>T (p.Leu515=) c.1590C>T (p.Leu530=) | |
17 | g.746465G>C | CA497384466 | GEMIN4 | c.1578C>G (p.Leu526=) c.1545C>G (p.Leu515=) c.1590C>G (p.Leu530=) | |
17 | g.746465G>T | CA497384467 | GEMIN4 | c.1578C>A (p.Leu526=) c.1545C>A (p.Leu515=) c.1590C>A (p.Leu530=) | |
17 | g.746466A>C | CA397506794 | GEMIN4 | c.1577T>G (p.Leu526Arg) c.1544T>G (p.Leu515Arg) c.1589T>G (p.Leu530Arg) | gnomAD v4 |
17 | g.746466A>G | CA397506795 | GEMIN4 | c.1577T>C (p.Leu526Pro) c.1544T>C (p.Leu515Pro) c.1589T>C (p.Leu530Pro) | |
17 | g.746466A>T | CA397506796 | GEMIN4 | c.1577T>A (p.Leu526His) c.1544T>A (p.Leu515His) c.1589T>A (p.Leu530His) | |
17 | g.746467G>A | CA397506797 | GEMIN4 | c.1576C>T (p.Leu526Phe) c.1543C>T (p.Leu515Phe) c.1588C>T (p.Leu530Phe) | |
17 | g.746467G>C | CA397506798 | GEMIN4 | c.1576C>G (p.Leu526Val) c.1543C>G (p.Leu515Val) c.1588C>G (p.Leu530Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746467G= | CA2242474733 | GEMIN4 | c.1576C= (p.Leu526=) c.1543C= (p.Leu515=) c.1588C= (p.Leu530=) | |
17 | g.746467G>T | CA397506799 | GEMIN4 | c.1576C>A (p.Leu526Ile) c.1543C>A (p.Leu515Ile) c.1588C>A (p.Leu530Ile) | |
17 | g.746467_746470del | CA2576107248 | GEMIN4 | c.1573_1576del (p.Asp525SerfsTer29) c.1540_1543del (p.Asp514SerfsTer29) c.1585_1588del (p.Asp529SerfsTer29) | |
17 | g.746468G>A | CA497384469 | GEMIN4 | c.1575C>T (p.Asp525=) c.1542C>T (p.Asp514=) c.1587C>T (p.Asp529=) | |
17 | g.746468G>C | CA397506800 | GEMIN4 | c.1575C>G (p.Asp525Glu) c.1542C>G (p.Asp514Glu) c.1587C>G (p.Asp529Glu) | |
17 | g.746468G>T | CA397506801 | GEMIN4 | c.1575C>A (p.Asp525Glu) c.1542C>A (p.Asp514Glu) c.1587C>A (p.Asp529Glu) | gnomAD v4 |
17 | g.746469T>A | CA397506802 | GEMIN4 | c.1574A>T (p.Asp525Val) c.1541A>T (p.Asp514Val) c.1586A>T (p.Asp529Val) | |
17 | g.746469T>C | CA397506803 | GEMIN4 | c.1574A>G (p.Asp525Gly) c.1541A>G (p.Asp514Gly) c.1586A>G (p.Asp529Gly) | |
17 | g.746469T>G | CA8262608 | GEMIN4 | c.1574A>C (p.Asp525Ala) c.1541A>C (p.Asp514Ala) c.1586A>C (p.Asp529Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746469T= | CA2242474734 | GEMIN4 | c.1574A= (p.Asp525=) c.1541A= (p.Asp514=) c.1586A= (p.Asp529=) | |
17 | g.746470C>A | CA397506806 | GEMIN4 | c.1573G>T (p.Asp525Tyr) c.1540G>T (p.Asp514Tyr) c.1585G>T (p.Asp529Tyr) | |
17 | g.746470C= | CA2242474735 | GEMIN4 | c.1573G= (p.Asp525=) c.1540G= (p.Asp514=) c.1585G= (p.Asp529=) | |
17 | g.746470C>G | CA397506804 | GEMIN4 | c.1573G>C (p.Asp525His) c.1540G>C (p.Asp514His) c.1585G>C (p.Asp529His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746470C>T | CA397506805 | GEMIN4 | c.1573G>A (p.Asp525Asn) c.1540G>A (p.Asp514Asn) c.1585G>A (p.Asp529Asn) | |
17 | g.746471T>A | CA397506807 | GEMIN4 | c.1572A>T (p.Glu524Asp) c.1539A>T (p.Glu513Asp) c.1584A>T (p.Glu528Asp) | |
17 | g.746471T>C | CA497384473 | GEMIN4 | c.1572A>G (p.Glu524=) c.1539A>G (p.Glu513=) c.1584A>G (p.Glu528=) | |
17 | g.746471T>G | CA397506808 | GEMIN4 | c.1572A>C (p.Glu524Asp) c.1539A>C (p.Glu513Asp) c.1584A>C (p.Glu528Asp) | |
17 | g.746472T>A | CA397506809 | GEMIN4 | c.1571A>T (p.Glu524Val) c.1538A>T (p.Glu513Val) c.1583A>T (p.Glu528Val) | |
17 | g.746472T>C | CA397506810 | GEMIN4 | c.1571A>G (p.Glu524Gly) c.1538A>G (p.Glu513Gly) c.1583A>G (p.Glu528Gly) | |
17 | g.746472T>G | CA397506811 | GEMIN4 | c.1571A>C (p.Glu524Ala) c.1538A>C (p.Glu513Ala) c.1583A>C (p.Glu528Ala) | |
17 | g.746473C>A | CA397506812 | GEMIN4 | c.1570G>T (p.Glu524Ter) c.1537G>T (p.Glu513Ter) c.1582G>T (p.Glu528Ter) | |
17 | g.746473C= | CA2242474736 | GEMIN4 | c.1570G= (p.Glu524=) c.1537G= (p.Glu513=) c.1582G= (p.Glu528=) | |
17 | g.746473C>G | CA397506813 | GEMIN4 | c.1570G>C (p.Glu524Gln) c.1537G>C (p.Glu513Gln) c.1582G>C (p.Glu528Gln) | |
17 | g.746473C>T | CA397506814 | GEMIN4 | c.1570G>A (p.Glu524Lys) c.1537G>A (p.Glu513Lys) c.1582G>A (p.Glu528Lys) | dbSNP |
17 | g.746474C>A | CA397506815 | GEMIN4 | c.1569G>T (p.Gln523His) c.1536G>T (p.Gln512His) c.1581G>T (p.Gln527His) | |
17 | g.746474C>G | CA397506816 | GEMIN4 | c.1569G>C (p.Gln523His) c.1536G>C (p.Gln512His) c.1581G>C (p.Gln527His) | |
17 | g.746474C>T | CA497384475 | GEMIN4 | c.1569G>A (p.Gln523=) c.1536G>A (p.Gln512=) c.1581G>A (p.Gln527=) | |
17 | g.746475T>A | CA397506818 | GEMIN4 | c.1568A>T (p.Gln523Leu) c.1535A>T (p.Gln512Leu) c.1580A>T (p.Gln527Leu) | |
17 | g.746475T>C | CA397506819 | GEMIN4 | c.1568A>G (p.Gln523Arg) c.1535A>G (p.Gln512Arg) c.1580A>G (p.Gln527Arg) | |
17 | g.746475T>G | CA397506817 | GEMIN4 | c.1568A>C (p.Gln523Pro) c.1535A>C (p.Gln512Pro) c.1580A>C (p.Gln527Pro) | |
17 | g.746476G>A | CA397506820 | GEMIN4 | c.1567C>T (p.Gln523Ter) c.1534C>T (p.Gln512Ter) c.1579C>T (p.Gln527Ter) | |
17 | g.746476G>C | CA397506821 | GEMIN4 | c.1567C>G (p.Gln523Glu) c.1534C>G (p.Gln512Glu) c.1579C>G (p.Gln527Glu) | |
17 | g.746476G>T | CA397506822 | GEMIN4 | c.1567C>A (p.Gln523Lys) c.1534C>A (p.Gln512Lys) c.1579C>A (p.Gln527Lys) | |
17 | g.746477A>C | CA397506823 | GEMIN4 | c.1566T>G (p.Phe522Leu) c.1533T>G (p.Phe511Leu) c.1578T>G (p.Phe526Leu) | |
17 | g.746477A>G | CA497384479 | GEMIN4 | c.1566T>C (p.Phe522=) c.1533T>C (p.Phe511=) c.1578T>C (p.Phe526=) | |
17 | g.746477A>T | CA397506824 | GEMIN4 | c.1566T>A (p.Phe522Leu) c.1533T>A (p.Phe511Leu) c.1578T>A (p.Phe526Leu) | |
17 | g.746478A>C | CA397506827 | GEMIN4 | c.1565T>G (p.Phe522Cys) c.1532T>G (p.Phe511Cys) c.1577T>G (p.Phe526Cys) | |
17 | g.746478A>G | CA397506826 | GEMIN4 | c.1565T>C (p.Phe522Ser) c.1532T>C (p.Phe511Ser) c.1577T>C (p.Phe526Ser) | |
17 | g.746478A>T | CA397506825 | GEMIN4 | c.1565T>A (p.Phe522Tyr) c.1532T>A (p.Phe511Tyr) c.1577T>A (p.Phe526Tyr) |