Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.17339536G>ACA154120771AHRc.1711G>A (p.Asp571Asn)
c.1681G>A (p.Asp561Asn)
c.1666G>A (p.Asp556Asn)
ClinVar dbSNP
7g.17339536G>CCA366895019AHRc.1711G>C (p.Asp571His)
c.1681G>C (p.Asp561His)
c.1666G>C (p.Asp556His)
7g.17339536G=CA1691323868AHRc.1711G= (p.Asp571=)
c.1681G= (p.Asp561=)
c.1666G= (p.Asp556=)
7g.17339536G>TCA366895020AHRc.1711G>T (p.Asp571Tyr)
c.1681G>T (p.Asp561Tyr)
c.1666G>T (p.Asp556Tyr)
gnomAD v4
7g.17339537A>CCA366895021AHRc.1712A>C (p.Asp571Ala)
c.1682A>C (p.Asp561Ala)
c.1667A>C (p.Asp556Ala)
7g.17339537A>GCA366895022AHRc.1712A>G (p.Asp571Gly)
c.1682A>G (p.Asp561Gly)
c.1667A>G (p.Asp556Gly)
7g.17339537A>TCA366895023AHRc.1712A>T (p.Asp571Val)
c.1682A>T (p.Asp561Val)
c.1667A>T (p.Asp556Val)
7g.17339538C>ACA366895024AHRc.1713C>A (p.Asp571Glu)
c.1683C>A (p.Asp561Glu)
c.1668C>A (p.Asp556Glu)
gnomAD v4
7g.17339538C=CA1691323869AHRc.1713C= (p.Asp571=)
c.1683C= (p.Asp561=)
c.1668C= (p.Asp556=)
7g.17339538C>GCA4172170AHRc.1713C>G (p.Asp571Glu)
c.1683C>G (p.Asp561Glu)
c.1668C>G (p.Asp556Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339538C>TCA454134136AHRc.1713C>T (p.Asp571=)
c.1683C>T (p.Asp561=)
c.1668C>T (p.Asp556=)
7g.17339539T>ACA366895025AHRc.1714T>A (p.Phe572Ile)
c.1684T>A (p.Phe562Ile)
c.1669T>A (p.Phe557Ile)
7g.17339539T>CCA366895026AHRc.1714T>C (p.Phe572Leu)
c.1684T>C (p.Phe562Leu)
c.1669T>C (p.Phe557Leu)
ClinVar dbSNP
7g.17339539T>GCA366895027AHRc.1714T>G (p.Phe572Val)
c.1684T>G (p.Phe562Val)
c.1669T>G (p.Phe557Val)
gnomAD v4
7g.17339539T=CA1691323870AHRc.1714T= (p.Phe572=)
c.1684T= (p.Phe562=)
c.1669T= (p.Phe557=)
7g.17339540T>ACA366895029AHRc.1715T>A (p.Phe572Tyr)
c.1685T>A (p.Phe562Tyr)
c.1670T>A (p.Phe557Tyr)
7g.17339540T>CCA366895030AHRc.1715T>C (p.Phe572Ser)
c.1685T>C (p.Phe562Ser)
c.1670T>C (p.Phe557Ser)
7g.17339540T>GCA366895028AHRc.1715T>G (p.Phe572Cys)
c.1685T>G (p.Phe562Cys)
c.1670T>G (p.Phe557Cys)
7g.17339541C>ACA366895031AHRc.1716C>A (p.Phe572Leu)
c.1686C>A (p.Phe562Leu)
c.1671C>A (p.Phe557Leu)
7g.17339541C>GCA366895032AHRc.1716C>G (p.Phe572Leu)
c.1686C>G (p.Phe562Leu)
c.1671C>G (p.Phe557Leu)
7g.17339541C>TCA454134137AHRc.1716C>T (p.Phe572=)
c.1686C>T (p.Phe562=)
c.1671C>T (p.Phe557=)
7g.17339542A>CCA454134138AHRc.1717A>C (p.Arg573=)
c.1687A>C (p.Arg563=)
c.1672A>C (p.Arg558=)
7g.17339542A>GCA366895033AHRc.1717A>G (p.Arg573Gly)
c.1687A>G (p.Arg563Gly)
c.1672A>G (p.Arg558Gly)
gnomAD v4
7g.17339542A>TCA366895034AHRc.1717A>T (p.Arg573Ter)
c.1687A>T (p.Arg563Ter)
c.1672A>T (p.Arg558Ter)
7g.17339543G>ACA366895035AHRc.1718G>A (p.Arg573Lys)
c.1688G>A (p.Arg563Lys)
c.1673G>A (p.Arg558Lys)
7g.17339543G>CCA366895036AHRc.1718G>C (p.Arg573Thr)
c.1688G>C (p.Arg563Thr)
c.1673G>C (p.Arg558Thr)
gnomAD v4
7g.17339543G>TCA366895037AHRc.1718G>T (p.Arg573Ile)
c.1688G>T (p.Arg563Ile)
c.1673G>T (p.Arg558Ile)
7g.17339544A>CCA366895038AHRc.1719A>C (p.Arg573Ser)
c.1689A>C (p.Arg563Ser)
c.1674A>C (p.Arg558Ser)
7g.17339544A>GCA454134139AHRc.1719A>G (p.Arg573=)
c.1689A>G (p.Arg563=)
c.1674A>G (p.Arg558=)
7g.17339544A>TCA366895039AHRc.1719A>T (p.Arg573Ser)
c.1689A>T (p.Arg563Ser)
c.1674A>T (p.Arg558Ser)
7g.17339545G>ACA366895040AHRc.1720G>A (p.Asp574Asn)
c.1690G>A (p.Asp564Asn)
c.1675G>A (p.Asp559Asn)
COSMIC
7g.17339545G>CCA366895041AHRc.1720G>C (p.Asp574His)
c.1690G>C (p.Asp564His)
c.1675G>C (p.Asp559His)
gnomAD v4
7g.17339545G>TCA366895042AHRc.1720G>T (p.Asp574Tyr)
c.1690G>T (p.Asp564Tyr)
c.1675G>T (p.Asp559Tyr)
gnomAD v4
7g.17339546A>CCA366895045AHRc.1721A>C (p.Asp574Ala)
c.1691A>C (p.Asp564Ala)
c.1676A>C (p.Asp559Ala)
7g.17339546A>GCA366895043AHRc.1721A>G (p.Asp574Gly)
c.1691A>G (p.Asp564Gly)
c.1676A>G (p.Asp559Gly)
7g.17339546A>TCA366895044AHRc.1721A>T (p.Asp574Val)
c.1691A>T (p.Asp564Val)
c.1676A>T (p.Asp559Val)
7g.17339547C>ACA366895046AHRc.1722C>A (p.Asp574Glu)
c.1692C>A (p.Asp564Glu)
c.1677C>A (p.Asp559Glu)
7g.17339547C>GCA366895047AHRc.1722C>G (p.Asp574Glu)
c.1692C>G (p.Asp564Glu)
c.1677C>G (p.Asp559Glu)
7g.17339547C>TCA454134140AHRc.1722C>T (p.Asp574=)
c.1692C>T (p.Asp564=)
c.1677C>T (p.Asp559=)
7g.17339548A>CCA366895048AHRc.1723A>C (p.Ile575Leu)
c.1693A>C (p.Ile565Leu)
c.1678A>C (p.Ile560Leu)
7g.17339548A>GCA366895049AHRc.1723A>G (p.Ile575Val)
c.1693A>G (p.Ile565Val)
c.1678A>G (p.Ile560Val)
gnomAD v4
7g.17339548A>TCA366895050AHRc.1723A>T (p.Ile575Phe)
c.1693A>T (p.Ile565Phe)
c.1678A>T (p.Ile560Phe)
7g.17339549T>ACA366895051AHRc.1724T>A (p.Ile575Asn)
c.1694T>A (p.Ile565Asn)
c.1679T>A (p.Ile560Asn)
7g.17339549T>CCA4172171AHRc.1724T>C (p.Ile575Thr)
c.1694T>C (p.Ile565Thr)
c.1679T>C (p.Ile560Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339549T>GCA366895052AHRc.1724T>G (p.Ile575Ser)
c.1694T>G (p.Ile565Ser)
c.1679T>G (p.Ile560Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339549T=CA1691323871AHRc.1724T= (p.Ile575=)
c.1694T= (p.Ile565=)
c.1679T= (p.Ile560=)
7g.17339550T>ACA454134141AHRc.1725T>A (p.Ile575=)
c.1695T>A (p.Ile565=)
c.1680T>A (p.Ile560=)
7g.17339550T>CCA454134142AHRc.1725T>C (p.Ile575=)
c.1695T>C (p.Ile565=)
c.1680T>C (p.Ile560=)
7g.17339550T>GCA366895053AHRc.1725T>G (p.Ile575Met)
c.1695T>G (p.Ile565Met)
c.1680T>G (p.Ile560Met)
7g.17339551G>ACA366895054AHRc.1726G>A (p.Asp576Asn)
c.1696G>A (p.Asp566Asn)
c.1681G>A (p.Asp561Asn)
7g.17339551G>CCA154120797AHRc.1726G>C (p.Asp576His)
c.1696G>C (p.Asp566His)
c.1681G>C (p.Asp561His)
dbSNP
7g.17339551G=CA1691323872AHRc.1726G= (p.Asp576=)
c.1696G= (p.Asp566=)
c.1681G= (p.Asp561=)
7g.17339551G>TCA366895055AHRc.1726G>T (p.Asp576Tyr)
c.1696G>T (p.Asp566Tyr)
c.1681G>T (p.Asp561Tyr)
gnomAD v4
7g.17339552A>CCA366895057AHRc.1727A>C (p.Asp576Ala)
c.1697A>C (p.Asp566Ala)
c.1682A>C (p.Asp561Ala)
7g.17339552A>GCA366895058AHRc.1727A>G (p.Asp576Gly)
c.1697A>G (p.Asp566Gly)
c.1682A>G (p.Asp561Gly)
7g.17339552A>TCA366895056AHRc.1727A>T (p.Asp576Val)
c.1697A>T (p.Asp566Val)
c.1682A>T (p.Asp561Val)
7g.17339553C>ACA366895059AHRc.1728C>A (p.Asp576Glu)
c.1698C>A (p.Asp566Glu)
c.1683C>A (p.Asp561Glu)
7g.17339553C=CA1691323873AHRc.1728C= (p.Asp576=)
c.1698C= (p.Asp566=)
c.1683C= (p.Asp561=)
7g.17339553C>GCA366895060AHRc.1728C>G (p.Asp576Glu)
c.1698C>G (p.Asp566Glu)
c.1683C>G (p.Asp561Glu)
gnomAD v4
7g.17339553C>TCA154120807AHRc.1728C>T (p.Asp576=)
c.1698C>T (p.Asp566=)
c.1683C>T (p.Asp561=)
dbSNP gnomAD v3 gnomAD v4
7g.17339554T>ACA366895061AHRc.1729T>A (p.Leu577Ile)
c.1699T>A (p.Leu567Ile)
c.1684T>A (p.Leu562Ile)
7g.17339554T>CCA454134143AHRc.1729T>C (p.Leu577=)
c.1699T>C (p.Leu567=)
c.1684T>C (p.Leu562=)
7g.17339554T>GCA366895062AHRc.1729T>G (p.Leu577Val)
c.1699T>G (p.Leu567Val)
c.1684T>G (p.Leu562Val)
7g.17339555T>ACA366895063AHRc.1730T>A (p.Leu577Ter)
c.1700T>A (p.Leu567Ter)
c.1685T>A (p.Leu562Ter)
7g.17339555T>CCA366895065AHRc.1730T>C (p.Leu577Ser)
c.1700T>C (p.Leu567Ser)
c.1685T>C (p.Leu562Ser)
7g.17339555T>GCA366895064AHRc.1730T>G (p.Leu577Ter)
c.1700T>G (p.Leu567Ter)
c.1685T>G (p.Leu562Ter)
7g.17339556A>CCA366895066AHRc.1731A>C (p.Leu577Phe)
c.1701A>C (p.Leu567Phe)
c.1686A>C (p.Leu562Phe)
7g.17339556A>GCA454134144AHRc.1731A>G (p.Leu577=)
c.1701A>G (p.Leu567=)
c.1686A>G (p.Leu562=)
7g.17339556A>TCA366895067AHRc.1731A>T (p.Leu577Phe)
c.1701A>T (p.Leu567Phe)
c.1686A>T (p.Leu562Phe)
7g.17339557A=CA1691323874AHRc.1732A= (p.Thr578=)
c.1702A= (p.Thr568=)
c.1687A= (p.Thr563=)
7g.17339557A>CCA366895068AHRc.1732A>C (p.Thr578Pro)
c.1702A>C (p.Thr568Pro)
c.1687A>C (p.Thr563Pro)
7g.17339557A>GCA366895069AHRc.1732A>G (p.Thr578Ala)
c.1702A>G (p.Thr568Ala)
c.1687A>G (p.Thr563Ala)
7g.17339557A>TCA4172172AHRc.1732A>T (p.Thr578Ser)
c.1702A>T (p.Thr568Ser)
c.1687A>T (p.Thr563Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339558C>ACA366895070AHRc.1733C>A (p.Thr578Lys)
c.1703C>A (p.Thr568Lys)
c.1688C>A (p.Thr563Lys)
7g.17339558C=CA1691323875AHRc.1733C= (p.Thr578=)
c.1703C= (p.Thr568=)
c.1688C= (p.Thr563=)
7g.17339558C>GCA366895071AHRc.1733C>G (p.Thr578Arg)
c.1703C>G (p.Thr568Arg)
c.1688C>G (p.Thr563Arg)
7g.17339558C>TCA4172173AHRc.1733C>T (p.Thr578Met)
c.1703C>T (p.Thr568Met)
c.1688C>T (p.Thr563Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.17339559G>ACA4172174AHRc.1734G>A (p.Thr578=)
c.1704G>A (p.Thr568=)
c.1689G>A (p.Thr563=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.17339559G>CCA454134145AHRc.1734G>C (p.Thr578=)
c.1704G>C (p.Thr568=)
c.1689G>C (p.Thr563=)
7g.17339559G=CA1691323876AHRc.1734G= (p.Thr578=)
c.1704G= (p.Thr568=)
c.1689G= (p.Thr563=)
7g.17339559G>TCA454134146AHRc.1734G>T (p.Thr578=)
c.1704G>T (p.Thr568=)
c.1689G>T (p.Thr563=)
7g.17339560G>ACA366895072AHRc.1735G>A (p.Asp579Asn)
c.1705G>A (p.Asp569Asn)
c.1690G>A (p.Asp564Asn)
dbSNP gnomAD v3 gnomAD v4
7g.17339560G>CCA366895073AHRc.1735G>C (p.Asp579His)
c.1705G>C (p.Asp569His)
c.1690G>C (p.Asp564His)
7g.17339560G=CA1691323877AHRc.1735G= (p.Asp579=)
c.1705G= (p.Asp569=)
c.1690G= (p.Asp564=)
7g.17339560G>TCA366895074AHRc.1735G>T (p.Asp579Tyr)
c.1705G>T (p.Asp569Tyr)
c.1690G>T (p.Asp564Tyr)
7g.17339561A>CCA366895077AHRc.1736A>C (p.Asp579Ala)
c.1706A>C (p.Asp569Ala)
c.1691A>C (p.Asp564Ala)
7g.17339561A>GCA366895075AHRc.1736A>G (p.Asp579Gly)
c.1706A>G (p.Asp569Gly)
c.1691A>G (p.Asp564Gly)
7g.17339561A>TCA366895076AHRc.1736A>T (p.Asp579Val)
c.1706A>T (p.Asp569Val)
c.1691A>T (p.Asp564Val)
7g.17339562T>ACA366895078AHRc.1737T>A (p.Asp579Glu)
c.1707T>A (p.Asp569Glu)
c.1692T>A (p.Asp564Glu)
7g.17339562T>CCA154120821AHRc.1737T>C (p.Asp579=)
c.1707T>C (p.Asp569=)
c.1692T>C (p.Asp564=)
dbSNP gnomAD v4
7g.17339562T>GCA366895079AHRc.1737T>G (p.Asp579Glu)
c.1707T>G (p.Asp569Glu)
c.1692T>G (p.Asp564Glu)
7g.17339562T=CA1691323878AHRc.1737T= (p.Asp579=)
c.1707T= (p.Asp569=)
c.1692T= (p.Asp564=)
7g.17339563G>ACA366895080AHRc.1738G>A (p.Glu580Lys)
c.1708G>A (p.Glu570Lys)
c.1693G>A (p.Glu565Lys)
7g.17339563G>CCA366895081AHRc.1738G>C (p.Glu580Gln)
c.1708G>C (p.Glu570Gln)
c.1693G>C (p.Glu565Gln)
7g.17339563G>TCA366895082AHRc.1738G>T (p.Glu580Ter)
c.1708G>T (p.Glu570Ter)
c.1693G>T (p.Glu565Ter)
gnomAD v4 COSMIC
7g.17339564A>CCA366895083AHRc.1739A>C (p.Glu580Ala)
c.1709A>C (p.Glu570Ala)
c.1694A>C (p.Glu565Ala)
7g.17339564A>GCA366895084AHRc.1739A>G (p.Glu580Gly)
c.1709A>G (p.Glu570Gly)
c.1694A>G (p.Glu565Gly)
7g.17339564A>TCA366895085AHRc.1739A>T (p.Glu580Val)
c.1709A>T (p.Glu570Val)
c.1694A>T (p.Glu565Val)
7g.17339566delCA2681909911AHRc.1741del (p.Ile581SerfsTer2)
c.1711del (p.Ile571SerfsTer2)
c.1696del (p.Ile566SerfsTer2)
gnomAD v4
7g.17339565A=CA1691323879AHRc.1740A= (p.Glu580=)
c.1710A= (p.Glu570=)
c.1695A= (p.Glu565=)
7g.17339565A>CCA366895086AHRc.1740A>C (p.Glu580Asp)
c.1710A>C (p.Glu570Asp)
c.1695A>C (p.Glu565Asp)
dbSNP gnomAD v2 gnomAD v4
7g.17339565A>GCA454134147AHRc.1740A>G (p.Glu580=)
c.1710A>G (p.Glu570=)
c.1695A>G (p.Glu565=)
7g.17339565A>TCA366895087AHRc.1740A>T (p.Glu580Asp)
c.1710A>T (p.Glu570Asp)
c.1695A>T (p.Glu565Asp)
7g.17339566A>CCA366895090AHRc.1741A>C (p.Ile581Leu)
c.1711A>C (p.Ile571Leu)
c.1696A>C (p.Ile566Leu)
7g.17339566A>GCA366895089AHRc.1741A>G (p.Ile581Val)
c.1711A>G (p.Ile571Val)
c.1696A>G (p.Ile566Val)
7g.17339566A>TCA366895088AHRc.1741A>T (p.Ile581Phe)
c.1711A>T (p.Ile571Phe)
c.1696A>T (p.Ile566Phe)
7g.17339567T>ACA366895091AHRc.1742T>A (p.Ile581Asn)
c.1712T>A (p.Ile571Asn)
c.1697T>A (p.Ile566Asn)
gnomAD v4
7g.17339567T>CCA366895092AHRc.1742T>C (p.Ile581Thr)
c.1712T>C (p.Ile571Thr)
c.1697T>C (p.Ile566Thr)
7g.17339567T>GCA366895093AHRc.1742T>G (p.Ile581Ser)
c.1712T>G (p.Ile571Ser)
c.1697T>G (p.Ile566Ser)
7g.17339567_17339568delinsATCA2580076907AHRc.1742_1743delinsAT (p.Ile581Asn)
c.1712_1713delinsAT (p.Ile571Asn)
c.1697_1698delinsAT (p.Ile566Asn)
ClinVar
7g.17339568C>ACA154120829AHRc.1743C>A (p.Ile581=)
c.1713C>A (p.Ile571=)
c.1698C>A (p.Ile566=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339568C=CA1691323880AHRc.1743C= (p.Ile581=)
c.1713C= (p.Ile571=)
c.1698C= (p.Ile566=)
7g.17339568C>GCA366895094AHRc.1743C>G (p.Ile581Met)
c.1713C>G (p.Ile571Met)
c.1698C>G (p.Ile566Met)
7g.17339568C>TCA454134148AHRc.1743C>T (p.Ile581=)
c.1713C>T (p.Ile571=)
c.1698C>T (p.Ile566=)
dbSNP gnomAD v3 gnomAD v4
7g.17339569C>ACA366895095AHRc.1744C>A (p.Leu582Met)
c.1714C>A (p.Leu572Met)
c.1699C>A (p.Leu567Met)
ClinVar dbSNP gnomAD v4
7g.17339569C=CA1691323881AHRc.1744C= (p.Leu582=)
c.1714C= (p.Leu572=)
c.1699C= (p.Leu567=)
7g.17339569C>GCA366895096AHRc.1744C>G (p.Leu582Val)
c.1714C>G (p.Leu572Val)
c.1699C>G (p.Leu567Val)
dbSNP
7g.17339569C>TCA454134149AHRc.1744C>T (p.Leu582=)
c.1714C>T (p.Leu572=)
c.1699C>T (p.Leu567=)
7g.17339570T>ACA366895097AHRc.1745T>A (p.Leu582Gln)
c.1715T>A (p.Leu572Gln)
c.1700T>A (p.Leu567Gln)
7g.17339570T>CCA366895098AHRc.1745T>C (p.Leu582Pro)
c.1715T>C (p.Leu572Pro)
c.1700T>C (p.Leu567Pro)
7g.17339570T>GCA366895099AHRc.1745T>G (p.Leu582Arg)
c.1715T>G (p.Leu572Arg)
c.1700T>G (p.Leu567Arg)
7g.17339571G>ACA454134152AHRc.1746G>A (p.Leu582=)
c.1716G>A (p.Leu572=)
c.1701G>A (p.Leu567=)
7g.17339571G>CCA454134151AHRc.1746G>C (p.Leu582=)
c.1716G>C (p.Leu572=)
c.1701G>C (p.Leu567=)
7g.17339571G>TCA454134150AHRc.1746G>T (p.Leu582=)
c.1716G>T (p.Leu572=)
c.1701G>T (p.Leu567=)
7g.17339572A>CCA366895100AHRc.1747A>C (p.Thr583Pro)
c.1717A>C (p.Thr573Pro)
c.1702A>C (p.Thr568Pro)
7g.17339572A>GCA366895101AHRc.1747A>G (p.Thr583Ala)
c.1717A>G (p.Thr573Ala)
c.1702A>G (p.Thr568Ala)
gnomAD v4
7g.17339572A>TCA366895102AHRc.1747A>T (p.Thr583Ser)
c.1717A>T (p.Thr573Ser)
c.1702A>T (p.Thr568Ser)
7g.17339573C>ACA366895104AHRc.1748C>A (p.Thr583Lys)
c.1718C>A (p.Thr573Lys)
c.1703C>A (p.Thr568Lys)
7g.17339573C=CA1691323882AHRc.1748C= (p.Thr583=)
c.1718C= (p.Thr573=)
c.1703C= (p.Thr568=)
7g.17339573C>GCA366895103AHRc.1748C>G (p.Thr583Arg)
c.1718C>G (p.Thr573Arg)
c.1703C>G (p.Thr568Arg)
dbSNP gnomAD v3 gnomAD v4
7g.17339573C>TCA4172175AHRc.1748C>T (p.Thr583Met)
c.1718C>T (p.Thr573Met)
c.1703C>T (p.Thr568Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.17339574G>ACA4172176AHRc.1749G>A (p.Thr583=)
c.1719G>A (p.Thr573=)
c.1704G>A (p.Thr568=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339574G>CCA154120837AHRc.1749G>C (p.Thr583=)
c.1719G>C (p.Thr573=)
c.1704G>C (p.Thr568=)
dbSNP gnomAD v4
7g.17339574G=CA1691323883AHRc.1749G= (p.Thr583=)
c.1719G= (p.Thr573=)
c.1704G= (p.Thr568=)
7g.17339574G>TCA454134153AHRc.1749G>T (p.Thr583=)
c.1719G>T (p.Thr573=)
c.1704G>T (p.Thr568=)
7g.17339575T>ACA366895105AHRc.1750T>A (p.Tyr584Asn)
c.1720T>A (p.Tyr574Asn)
c.1705T>A (p.Tyr569Asn)
7g.17339575T>CCA366895106AHRc.1750T>C (p.Tyr584His)
c.1720T>C (p.Tyr574His)
c.1705T>C (p.Tyr569His)
7g.17339575T>GCA366895107AHRc.1750T>G (p.Tyr584Asp)
c.1720T>G (p.Tyr574Asp)
c.1705T>G (p.Tyr569Asp)
dbSNP
7g.17339575T=CA1691323884AHRc.1750T= (p.Tyr584=)
c.1720T= (p.Tyr574=)
c.1705T= (p.Tyr569=)
7g.17339576A>CCA366895108AHRc.1751A>C (p.Tyr584Ser)
c.1721A>C (p.Tyr574Ser)
c.1706A>C (p.Tyr569Ser)
7g.17339576A>GCA366895109AHRc.1751A>G (p.Tyr584Cys)
c.1721A>G (p.Tyr574Cys)
c.1706A>G (p.Tyr569Cys)
gnomAD v4
7g.17339576A>TCA366895110AHRc.1751A>T (p.Tyr584Phe)
c.1721A>T (p.Tyr574Phe)
c.1706A>T (p.Tyr569Phe)
gnomAD v4
7g.17339577T>ACA366895111AHRc.1752T>A (p.Tyr584Ter)
c.1722T>A (p.Tyr574Ter)
c.1707T>A (p.Tyr569Ter)
7g.17339577T>CCA454134154AHRc.1752T>C (p.Tyr584=)
c.1722T>C (p.Tyr574=)
c.1707T>C (p.Tyr569=)
7g.17339577T>GCA366895112AHRc.1752T>G (p.Tyr584Ter)
c.1722T>G (p.Tyr574Ter)
c.1707T>G (p.Tyr569Ter)
7g.17339578G>ACA366895113AHRc.1753G>A (p.Val585Ile)
c.1723G>A (p.Val575Ile)
c.1708G>A (p.Val570Ile)
dbSNP gnomAD v4
7g.17339578G>CCA366895114AHRc.1753G>C (p.Val585Leu)
c.1723G>C (p.Val575Leu)
c.1708G>C (p.Val570Leu)
gnomAD v4
7g.17339578G=CA1691323885AHRc.1753G= (p.Val585=)
c.1723G= (p.Val575=)
c.1708G= (p.Val570=)
7g.17339578G>TCA366895115AHRc.1753G>T (p.Val585Phe)
c.1723G>T (p.Val575Phe)
c.1708G>T (p.Val570Phe)
7g.17339579T>ACA366895118AHRc.1754T>A (p.Val585Asp)
c.1724T>A (p.Val575Asp)
c.1709T>A (p.Val570Asp)
7g.17339579T>CCA366895117AHRc.1754T>C (p.Val585Ala)
c.1724T>C (p.Val575Ala)
c.1709T>C (p.Val570Ala)
gnomAD v4
7g.17339579T>GCA366895116AHRc.1754T>G (p.Val585Gly)
c.1724T>G (p.Val575Gly)
c.1709T>G (p.Val570Gly)
7g.17339580C>ACA454134155AHRc.1755C>A (p.Val585=)
c.1725C>A (p.Val575=)
c.1710C>A (p.Val570=)
gnomAD v4
7g.17339580C=CA1691323886AHRc.1755C= (p.Val585=)
c.1725C= (p.Val575=)
c.1710C= (p.Val570=)
7g.17339580C>GCA454134156AHRc.1755C>G (p.Val585=)
c.1725C>G (p.Val575=)
c.1710C>G (p.Val570=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339580C>TCA4172177AHRc.1755C>T (p.Val585=)
c.1725C>T (p.Val575=)
c.1710C>T (p.Val570=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339581C>ACA366895119AHRc.1756C>A (p.Gln586Lys)
c.1726C>A (p.Gln576Lys)
c.1711C>A (p.Gln571Lys)
7g.17339581C>GCA366895121AHRc.1756C>G (p.Gln586Glu)
c.1726C>G (p.Gln576Glu)
c.1711C>G (p.Gln571Glu)
7g.17339581C>TCA366895120AHRc.1756C>T (p.Gln586Ter)
c.1726C>T (p.Gln576Ter)
c.1711C>T (p.Gln571Ter)
7g.17339582A>CCA366895122AHRc.1757A>C (p.Gln586Pro)
c.1727A>C (p.Gln576Pro)
c.1712A>C (p.Gln571Pro)
7g.17339582A>GCA366895123AHRc.1757A>G (p.Gln586Arg)
c.1727A>G (p.Gln576Arg)
c.1712A>G (p.Gln571Arg)
7g.17339582A>TCA366895124AHRc.1757A>T (p.Gln586Leu)
c.1727A>T (p.Gln576Leu)
c.1712A>T (p.Gln571Leu)
7g.17339583A=CA1691323887AHRc.1758A= (p.Gln586=)
c.1728A= (p.Gln576=)
c.1713A= (p.Gln571=)
7g.17339583A>CCA4172178AHRc.1758A>C (p.Gln586His)
c.1728A>C (p.Gln576His)
c.1713A>C (p.Gln571His)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339583A>GCA454134157AHRc.1758A>G (p.Gln586=)
c.1728A>G (p.Gln576=)
c.1713A>G (p.Gln571=)
gnomAD v4
7g.17339583A>TCA366895125AHRc.1758A>T (p.Gln586His)
c.1728A>T (p.Gln576His)
c.1713A>T (p.Gln571His)
7g.17339584G>ACA366895126AHRc.1759G>A (p.Asp587Asn)
c.1729G>A (p.Asp577Asn)
c.1714G>A (p.Asp572Asn)
7g.17339584G>CCA366895127AHRc.1759G>C (p.Asp587His)
c.1729G>C (p.Asp577His)
c.1714G>C (p.Asp572His)
7g.17339584G>TCA366895128AHRc.1759G>T (p.Asp587Tyr)
c.1729G>T (p.Asp577Tyr)
c.1714G>T (p.Asp572Tyr)
7g.17339585A>CCA366895129AHRc.1760A>C (p.Asp587Ala)
c.1730A>C (p.Asp577Ala)
c.1715A>C (p.Asp572Ala)
7g.17339585A>GCA366895130AHRc.1760A>G (p.Asp587Gly)
c.1730A>G (p.Asp577Gly)
c.1715A>G (p.Asp572Gly)
7g.17339585A>TCA366895131AHRc.1760A>T (p.Asp587Val)
c.1730A>T (p.Asp577Val)
c.1715A>T (p.Asp572Val)
7g.17339586T>ACA366895132AHRc.1761T>A (p.Asp587Glu)
c.1731T>A (p.Asp577Glu)
c.1716T>A (p.Asp572Glu)
7g.17339586T>CCA454134158AHRc.1761T>C (p.Asp587=)
c.1731T>C (p.Asp577=)
c.1716T>C (p.Asp572=)
dbSNP
7g.17339586T>GCA366895133AHRc.1761T>G (p.Asp587Glu)
c.1731T>G (p.Asp577Glu)
c.1716T>G (p.Asp572Glu)
7g.17339586T=CA1691323888AHRc.1761T= (p.Asp587=)
c.1731T= (p.Asp577=)
c.1716T= (p.Asp572=)
7g.17339587T>ACA366895134AHRc.1762T>A (p.Ser588Thr)
c.1732T>A (p.Ser578Thr)
c.1717T>A (p.Ser573Thr)
7g.17339587T>CCA366895136AHRc.1762T>C (p.Ser588Pro)
c.1732T>C (p.Ser578Pro)
c.1717T>C (p.Ser573Pro)
7g.17339587T>GCA366895135AHRc.1762T>G (p.Ser588Ala)
c.1732T>G (p.Ser578Ala)
c.1717T>G (p.Ser573Ala)
7g.17339588C>ACA366895137AHRc.1763C>A (p.Ser588Tyr)
c.1733C>A (p.Ser578Tyr)
c.1718C>A (p.Ser573Tyr)
gnomAD v4
7g.17339588C=CA1691323889AHRc.1763C= (p.Ser588=)
c.1733C= (p.Ser578=)
c.1718C= (p.Ser573=)
7g.17339588C>GCA4172179AHRc.1763C>G (p.Ser588Cys)
c.1733C>G (p.Ser578Cys)
c.1718C>G (p.Ser573Cys)
dbSNP ExAC gnomAD v2
7g.17339588C>TCA366895138AHRc.1763C>T (p.Ser588Phe)
c.1733C>T (p.Ser578Phe)
c.1718C>T (p.Ser573Phe)
7g.17339589T>ACA454134159AHRc.1764T>A (p.Ser588=)
c.1734T>A (p.Ser578=)
c.1719T>A (p.Ser573=)
7g.17339589T>CCA454134161AHRc.1764T>C (p.Ser588=)
c.1734T>C (p.Ser578=)
c.1719T>C (p.Ser573=)
7g.17339589T>GCA454134160AHRc.1764T>G (p.Ser588=)
c.1734T>G (p.Ser578=)
c.1719T>G (p.Ser573=)
7g.17339590T>ACA366895139AHRc.1765T>A (p.Leu589Ile)
c.1735T>A (p.Leu579Ile)
c.1720T>A (p.Leu574Ile)
7g.17339590T>CCA454134162AHRc.1765T>C (p.Leu589=)
c.1735T>C (p.Leu579=)
c.1720T>C (p.Leu574=)
7g.17339590T>GCA366895140AHRc.1765T>G (p.Leu589Val)
c.1735T>G (p.Leu579Val)
c.1720T>G (p.Leu574Val)
gnomAD v4
7g.17339590_17339594delinsTTAAGCA1691323890AHRc.1765_1769delinsTTAAG (p.Leu589=)
c.1735_1739delinsTTAAG (p.Leu579=)
c.1720_1724delinsTTAAG (p.Leu574=)
7g.17339591T>ACA366895141AHRc.1766T>A (p.Leu589Ter)
c.1736T>A (p.Leu579Ter)
c.1721T>A (p.Leu574Ter)
7g.17339591T>CCA366895142AHRc.1766T>C (p.Leu589Ser)
c.1736T>C (p.Leu579Ser)
c.1721T>C (p.Leu574Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.17339591T>GCA366895143AHRc.1766T>G (p.Leu589Ter)
c.1736T>G (p.Leu579Ter)
c.1721T>G (p.Leu574Ter)
gnomAD v4
7g.17339591T=CA1691323891AHRc.1766T= (p.Leu589=)
c.1736T= (p.Leu579=)
c.1721T= (p.Leu574=)
7g.17339596_17339599delCA1098901327AHRc.1771_1774del (p.Lys591LeufsTer16)
c.1741_1744del (p.Lys581LeufsTer16)
c.1726_1729del (p.Lys576LeufsTer16)
dbSNP gnomAD v3 gnomAD v4
7g.17339592A>CCA366895144AHRc.1767A>C (p.Leu589Phe)
c.1737A>C (p.Leu579Phe)
c.1722A>C (p.Leu574Phe)
7g.17339592A>GCA454134163AHRc.1767A>G (p.Leu589=)
c.1737A>G (p.Leu579=)
c.1722A>G (p.Leu574=)
7g.17339592A>TCA366895145AHRc.1767A>T (p.Leu589Phe)
c.1737A>T (p.Leu579Phe)
c.1722A>T (p.Leu574Phe)
7g.17339593A=CA1691323892AHRc.1768A= (p.Ser590=)
c.1738A= (p.Ser580=)
c.1723A= (p.Ser575=)
7g.17339593A>CCA366895148AHRc.1768A>C (p.Ser590Arg)
c.1738A>C (p.Ser580Arg)
c.1723A>C (p.Ser575Arg)
dbSNP gnomAD v4
7g.17339593A>GCA366895147AHRc.1768A>G (p.Ser590Gly)
c.1738A>G (p.Ser580Gly)
c.1723A>G (p.Ser575Gly)
7g.17339593A>TCA366895146AHRc.1768A>T (p.Ser590Cys)
c.1738A>T (p.Ser580Cys)
c.1723A>T (p.Ser575Cys)
7g.17339594G>ACA366895149AHRc.1769G>A (p.Ser590Asn)
c.1739G>A (p.Ser580Asn)
c.1724G>A (p.Ser575Asn)
dbSNP gnomAD v2
7g.17339594G>CCA366895150AHRc.1769G>C (p.Ser590Thr)
c.1739G>C (p.Ser580Thr)
c.1724G>C (p.Ser575Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339594G=CA1691323893AHRc.1769G= (p.Ser590=)
c.1739G= (p.Ser580=)
c.1724G= (p.Ser575=)
7g.17339594G>TCA366895151AHRc.1769G>T (p.Ser590Ile)
c.1739G>T (p.Ser580Ile)
c.1724G>T (p.Ser575Ile)
7g.17339595T>ACA366895152AHRc.1770T>A (p.Ser590Arg)
c.1740T>A (p.Ser580Arg)
c.1725T>A (p.Ser575Arg)
7g.17339595T>CCA454134164AHRc.1770T>C (p.Ser590=)
c.1740T>C (p.Ser580=)
c.1725T>C (p.Ser575=)
7g.17339595T>GCA366895153AHRc.1770T>G (p.Ser590Arg)
c.1740T>G (p.Ser580Arg)
c.1725T>G (p.Ser575Arg)
7g.17339596A>CCA366895154AHRc.1771A>C (p.Lys591Gln)
c.1741A>C (p.Lys581Gln)
c.1726A>C (p.Lys576Gln)
7g.17339596A>GCA366895155AHRc.1771A>G (p.Lys591Glu)
c.1741A>G (p.Lys581Glu)
c.1726A>G (p.Lys576Glu)
gnomAD v4
7g.17339596A>TCA366895156AHRc.1771A>T (p.Lys591Ter)
c.1741A>T (p.Lys581Ter)
c.1726A>T (p.Lys576Ter)
7g.17339597A>CCA366895157AHRc.1772A>C (p.Lys591Thr)
c.1742A>C (p.Lys581Thr)
c.1727A>C (p.Lys576Thr)
7g.17339597A>GCA366895158AHRc.1772A>G (p.Lys591Arg)
c.1742A>G (p.Lys581Arg)
c.1727A>G (p.Lys576Arg)
7g.17339597A>TCA366895159AHRc.1772A>T (p.Lys591Met)
c.1742A>T (p.Lys581Met)
c.1727A>T (p.Lys576Met)
gnomAD v4
7g.17339598G>ACA454134165AHRc.1773G>A (p.Lys591=)
c.1743G>A (p.Lys581=)
c.1728G>A (p.Lys576=)
7g.17339598G>CCA366895160AHRc.1773G>C (p.Lys591Asn)
c.1743G>C (p.Lys581Asn)
c.1728G>C (p.Lys576Asn)
gnomAD v4
7g.17339598G>TCA366895161AHRc.1773G>T (p.Lys591Asn)
c.1743G>T (p.Lys581Asn)
c.1728G>T (p.Lys576Asn)
7g.17339599T>ACA366895164AHRc.1774T>A (p.Ser592Thr)
c.1744T>A (p.Ser582Thr)
c.1729T>A (p.Ser577Thr)
7g.17339599T>CCA366895162AHRc.1774T>C (p.Ser592Pro)
c.1744T>C (p.Ser582Pro)
c.1729T>C (p.Ser577Pro)
7g.17339599T>GCA366895163AHRc.1774T>G (p.Ser592Ala)
c.1744T>G (p.Ser582Ala)
c.1729T>G (p.Ser577Ala)
7g.17339600C>ACA366895165AHRc.1775C>A (p.Ser592Tyr)
c.1745C>A (p.Ser582Tyr)
c.1730C>A (p.Ser577Tyr)
7g.17339600C=CA1691323894AHRc.1775C= (p.Ser592=)
c.1745C= (p.Ser582=)
c.1730C= (p.Ser577=)
7g.17339600C>GCA4172180AHRc.1775C>G (p.Ser592Cys)
c.1745C>G (p.Ser582Cys)
c.1730C>G (p.Ser577Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339600C>TCA366895166AHRc.1775C>T (p.Ser592Phe)
c.1745C>T (p.Ser582Phe)
c.1730C>T (p.Ser577Phe)
gnomAD v4
7g.17339601T>ACA454134166AHRc.1776T>A (p.Ser592=)
c.1746T>A (p.Ser582=)
c.1731T>A (p.Ser577=)
7g.17339601T>CCA454134167AHRc.1776T>C (p.Ser592=)
c.1746T>C (p.Ser582=)
c.1731T>C (p.Ser577=)
7g.17339601T>GCA454134168AHRc.1776T>G (p.Ser592=)
c.1746T>G (p.Ser582=)
c.1731T>G (p.Ser577=)
7g.17339602C>ACA366895167AHRc.1777C>A (p.Pro593Thr)
c.1747C>A (p.Pro583Thr)
c.1732C>A (p.Pro578Thr)
7g.17339602C=CA1691323895AHRc.1777C= (p.Pro593=)
c.1747C= (p.Pro583=)
c.1732C= (p.Pro578=)
7g.17339602C>GCA4172181AHRc.1777C>G (p.Pro593Ala)
c.1747C>G (p.Pro583Ala)
c.1732C>G (p.Pro578Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339602C>TCA366895168AHRc.1777C>T (p.Pro593Ser)
c.1747C>T (p.Pro583Ser)
c.1732C>T (p.Pro578Ser)
dbSNP gnomAD v2 gnomAD v4
7g.17339603C>ACA366895169AHRc.1778C>A (p.Pro593His)
c.1748C>A (p.Pro583His)
c.1733C>A (p.Pro578His)
7g.17339603C>GCA366895170AHRc.1778C>G (p.Pro593Arg)
c.1748C>G (p.Pro583Arg)
c.1733C>G (p.Pro578Arg)
7g.17339603C>TCA366895171AHRc.1778C>T (p.Pro593Leu)
c.1748C>T (p.Pro583Leu)
c.1733C>T (p.Pro578Leu)
7g.17339604C>ACA454134171AHRc.1779C>A (p.Pro593=)
c.1749C>A (p.Pro583=)
c.1734C>A (p.Pro578=)
7g.17339604C>GCA454134169AHRc.1779C>G (p.Pro593=)
c.1749C>G (p.Pro583=)
c.1734C>G (p.Pro578=)
7g.17339604C>TCA454134170AHRc.1779C>T (p.Pro593=)
c.1749C>T (p.Pro583=)
c.1734C>T (p.Pro578=)
7g.17339605T>ACA366895172AHRc.1780T>A (p.Phe594Ile)
c.1750T>A (p.Phe584Ile)
c.1735T>A (p.Phe579Ile)
7g.17339605T>CCA366895173AHRc.1780T>C (p.Phe594Leu)
c.1750T>C (p.Phe584Leu)
c.1735T>C (p.Phe579Leu)
dbSNP
7g.17339605T>GCA366895174AHRc.1780T>G (p.Phe594Val)
c.1750T>G (p.Phe584Val)
c.1735T>G (p.Phe579Val)
7g.17339605T=CA1691323896AHRc.1780T= (p.Phe594=)
c.1750T= (p.Phe584=)
c.1735T= (p.Phe579=)
7g.17339606delCA2681909912AHRc.1781del (p.Phe594SerfsTer14)
c.1751del (p.Phe584SerfsTer14)
c.1736del (p.Phe579SerfsTer14)
gnomAD v4
7g.17339606T>ACA366895176AHRc.1781T>A (p.Phe594Tyr)
c.1751T>A (p.Phe584Tyr)
c.1736T>A (p.Phe579Tyr)
7g.17339606T>CCA366895177AHRc.1781T>C (p.Phe594Ser)
c.1751T>C (p.Phe584Ser)
c.1736T>C (p.Phe579Ser)
7g.17339606T>GCA366895175AHRc.1781T>G (p.Phe594Cys)
c.1751T>G (p.Phe584Cys)
c.1736T>G (p.Phe579Cys)
7g.17339607C>ACA366895178AHRc.1782C>A (p.Phe594Leu)
c.1752C>A (p.Phe584Leu)
c.1737C>A (p.Phe579Leu)
gnomAD v4
7g.17339607C>GCA366895179AHRc.1782C>G (p.Phe594Leu)
c.1752C>G (p.Phe584Leu)
c.1737C>G (p.Phe579Leu)
7g.17339607C>TCA454134172AHRc.1782C>T (p.Phe594=)
c.1752C>T (p.Phe584=)
c.1737C>T (p.Phe579=)
7g.17339608A=CA1691323897AHRc.1783A= (p.Ile595=)
c.1753A= (p.Ile585=)
c.1738A= (p.Ile580=)
7g.17339608A>CCA366895180AHRc.1783A>C (p.Ile595Leu)
c.1753A>C (p.Ile585Leu)
c.1738A>C (p.Ile580Leu)
dbSNP gnomAD v3 gnomAD v4
7g.17339608A>GCA366895181AHRc.1783A>G (p.Ile595Val)
c.1753A>G (p.Ile585Val)
c.1738A>G (p.Ile580Val)
7g.17339608A>TCA366895182AHRc.1783A>T (p.Ile595Leu)
c.1753A>T (p.Ile585Leu)
c.1738A>T (p.Ile580Leu)
7g.17339609T>ACA366895183AHRc.1784T>A (p.Ile595Lys)
c.1754T>A (p.Ile585Lys)
c.1739T>A (p.Ile580Lys)
7g.17339609T>CCA366895184AHRc.1784T>C (p.Ile595Thr)
c.1754T>C (p.Ile585Thr)
c.1739T>C (p.Ile580Thr)
7g.17339609T>GCA366895185AHRc.1784T>G (p.Ile595Arg)
c.1754T>G (p.Ile585Arg)
c.1739T>G (p.Ile580Arg)
7g.17339610A>CCA454134173AHRc.1785A>C (p.Ile595=)
c.1755A>C (p.Ile585=)
c.1740A>C (p.Ile580=)
7g.17339610A>GCA366895186AHRc.1785A>G (p.Ile595Met)
c.1755A>G (p.Ile585Met)
c.1740A>G (p.Ile580Met)
7g.17339610A>TCA454134174AHRc.1785A>T (p.Ile595=)
c.1755A>T (p.Ile585=)
c.1740A>T (p.Ile580=)
7g.17339611C>ACA366895187AHRc.1786C>A (p.Pro596Thr)
c.1756C>A (p.Pro586Thr)
c.1741C>A (p.Pro581Thr)
7g.17339611C=CA1691323898AHRc.1786C= (p.Pro596=)
c.1756C= (p.Pro586=)
c.1741C= (p.Pro581=)
7g.17339611C>GCA366895188AHRc.1786C>G (p.Pro596Ala)
c.1756C>G (p.Pro586Ala)
c.1741C>G (p.Pro581Ala)
7g.17339611C>TCA366895189AHRc.1786C>T (p.Pro596Ser)
c.1756C>T (p.Pro586Ser)
c.1741C>T (p.Pro581Ser)
dbSNP gnomAD v4
7g.17339612C>ACA366895190AHRc.1787C>A (p.Pro596His)
c.1757C>A (p.Pro586His)
c.1742C>A (p.Pro581His)
7g.17339612C>GCA366895191AHRc.1787C>G (p.Pro596Arg)
c.1757C>G (p.Pro586Arg)
c.1742C>G (p.Pro581Arg)
7g.17339612C>TCA366895192AHRc.1787C>T (p.Pro596Leu)
c.1757C>T (p.Pro586Leu)
c.1742C>T (p.Pro581Leu)
7g.17339613T>ACA454134175AHRc.1788T>A (p.Pro596=)
c.1758T>A (p.Pro586=)
c.1743T>A (p.Pro581=)
7g.17339613T>CCA454134176AHRc.1788T>C (p.Pro596=)
c.1758T>C (p.Pro586=)
c.1743T>C (p.Pro581=)
7g.17339613T>GCA454134177AHRc.1788T>G (p.Pro596=)
c.1758T>G (p.Pro586=)
c.1743T>G (p.Pro581=)
7g.17339614T>ACA366895195AHRc.1789T>A (p.Ser597Thr)
c.1759T>A (p.Ser587Thr)
c.1744T>A (p.Ser582Thr)
7g.17339614T>CCA366895193AHRc.1789T>C (p.Ser597Pro)
c.1759T>C (p.Ser587Pro)
c.1744T>C (p.Ser582Pro)
7g.17339614T>GCA366895194AHRc.1789T>G (p.Ser597Ala)
c.1759T>G (p.Ser587Ala)
c.1744T>G (p.Ser582Ala)
gnomAD v4
7g.17339615C>ACA366895196AHRc.1790C>A (p.Ser597Ter)
c.1760C>A (p.Ser587Ter)
c.1745C>A (p.Ser582Ter)
7g.17339615C=CA1691323899AHRc.1790C= (p.Ser597=)
c.1760C= (p.Ser587=)
c.1745C= (p.Ser582=)
7g.17339615C>GCA366895197AHRc.1790C>G (p.Ser597Ter)
c.1760C>G (p.Ser587Ter)
c.1745C>G (p.Ser582Ter)
COSMIC
7g.17339615C>TCA366895198AHRc.1790C>T (p.Ser597Leu)
c.1760C>T (p.Ser587Leu)
c.1745C>T (p.Ser582Leu)
dbSNP gnomAD v3 gnomAD v4
7g.17339616A=CA1691323900AHRc.1791A= (p.Ser597=)
c.1761A= (p.Ser587=)
c.1746A= (p.Ser582=)
7g.17339616A>CCA454134178AHRc.1791A>C (p.Ser597=)
c.1761A>C (p.Ser587=)
c.1746A>C (p.Ser582=)
dbSNP gnomAD v3 gnomAD v4
7g.17339616A>GCA154120882AHRc.1791A>G (p.Ser597=)
c.1761A>G (p.Ser587=)
c.1746A>G (p.Ser582=)
dbSNP gnomAD v3 gnomAD v4
7g.17339616A>TCA4172182AHRc.1791A>T (p.Ser597=)
c.1761A>T (p.Ser587=)
c.1746A>T (p.Ser582=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339617G>ACA366895199AHRc.1792G>A (p.Asp598Asn)
c.1762G>A (p.Asp588Asn)
c.1747G>A (p.Asp583Asn)
7g.17339617G>CCA366895200AHRc.1792G>C (p.Asp598His)
c.1762G>C (p.Asp588His)
c.1747G>C (p.Asp583His)
7g.17339617G>TCA366895201AHRc.1792G>T (p.Asp598Tyr)
c.1762G>T (p.Asp588Tyr)
c.1747G>T (p.Asp583Tyr)
7g.17339618A=CA1691323901AHRc.1793A= (p.Asp598=)
c.1763A= (p.Asp588=)
c.1748A= (p.Asp583=)
7g.17339618A>CCA366895202AHRc.1793A>C (p.Asp598Ala)
c.1763A>C (p.Asp588Ala)
c.1748A>C (p.Asp583Ala)
7g.17339618A>GCA4172183AHRc.1793A>G (p.Asp598Gly)
c.1763A>G (p.Asp588Gly)
c.1748A>G (p.Asp583Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339618A>TCA366895203AHRc.1793A>T (p.Asp598Val)
c.1763A>T (p.Asp588Val)
c.1748A>T (p.Asp583Val)
7g.17339619T>ACA366895204AHRc.1794T>A (p.Asp598Glu)
c.1764T>A (p.Asp588Glu)
c.1749T>A (p.Asp583Glu)
7g.17339619T>CCA454134179AHRc.1794T>C (p.Asp598=)
c.1764T>C (p.Asp588=)
c.1749T>C (p.Asp583=)
7g.17339619T>GCA366895205AHRc.1794T>G (p.Asp598Glu)
c.1764T>G (p.Asp588Glu)
c.1749T>G (p.Asp583Glu)
7g.17339620T>ACA366895206AHRc.1795T>A (p.Tyr599Asn)
c.1765T>A (p.Tyr589Asn)
c.1750T>A (p.Tyr584Asn)
7g.17339620T>CCA366895208AHRc.1795T>C (p.Tyr599His)
c.1765T>C (p.Tyr589His)
c.1750T>C (p.Tyr584His)
7g.17339620T>GCA366895207AHRc.1795T>G (p.Tyr599Asp)
c.1765T>G (p.Tyr589Asp)
c.1750T>G (p.Tyr584Asp)
7g.17339621A=CA1691323902AHRc.1796A= (p.Tyr599=)
c.1766A= (p.Tyr589=)
c.1751A= (p.Tyr584=)
7g.17339621A>CCA366895209AHRc.1796A>C (p.Tyr599Ser)
c.1766A>C (p.Tyr589Ser)
c.1751A>C (p.Tyr584Ser)
7g.17339621A>GCA4172184AHRc.1796A>G (p.Tyr599Cys)
c.1766A>G (p.Tyr589Cys)
c.1751A>G (p.Tyr584Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339621A>TCA366895210AHRc.1796A>T (p.Tyr599Phe)
c.1766A>T (p.Tyr589Phe)
c.1751A>T (p.Tyr584Phe)
7g.17339622T>ACA366895211AHRc.1797T>A (p.Tyr599Ter)
c.1767T>A (p.Tyr589Ter)
c.1752T>A (p.Tyr584Ter)
7g.17339622T>CCA454134180AHRc.1797T>C (p.Tyr599=)
c.1767T>C (p.Tyr589=)
c.1752T>C (p.Tyr584=)
7g.17339622T>GCA366895212AHRc.1797T>G (p.Tyr599Ter)
c.1767T>G (p.Tyr589Ter)
c.1752T>G (p.Tyr584Ter)
7g.17339623C>ACA366895213AHRc.1798C>A (p.Gln600Lys)
c.1768C>A (p.Gln590Lys)
c.1753C>A (p.Gln585Lys)
7g.17339623C>GCA366895214AHRc.1798C>G (p.Gln600Glu)
c.1768C>G (p.Gln590Glu)
c.1753C>G (p.Gln585Glu)
7g.17339623C>TCA366895215AHRc.1798C>T (p.Gln600Ter)
c.1768C>T (p.Gln590Ter)
c.1753C>T (p.Gln585Ter)
7g.17339624A>CCA366895216AHRc.1799A>C (p.Gln600Pro)
c.1769A>C (p.Gln590Pro)
c.1754A>C (p.Gln585Pro)
7g.17339624A>GCA366895217AHRc.1799A>G (p.Gln600Arg)
c.1769A>G (p.Gln590Arg)
c.1754A>G (p.Gln585Arg)
7g.17339624A>TCA366895218AHRc.1799A>T (p.Gln600Leu)
c.1769A>T (p.Gln590Leu)
c.1754A>T (p.Gln585Leu)
7g.17339625A=CA1691323903AHRc.1800A= (p.Gln600=)
c.1770A= (p.Gln590=)
c.1755A= (p.Gln585=)
7g.17339625A>CCA366895220AHRc.1800A>C (p.Gln600His)
c.1770A>C (p.Gln590His)
c.1755A>C (p.Gln585His)
gnomAD v4
7g.17339625A>GCA4172185AHRc.1800A>G (p.Gln600=)
c.1770A>G (p.Gln590=)
c.1755A>G (p.Gln585=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339625A>TCA366895219AHRc.1800A>T (p.Gln600His)
c.1770A>T (p.Gln590His)
c.1755A>T (p.Gln585His)
7g.17339626C>ACA366895221AHRc.1801C>A (p.Gln601Lys)
c.1771C>A (p.Gln591Lys)
c.1756C>A (p.Gln586Lys)
7g.17339626C=CA1691323904AHRc.1801C= (p.Gln601=)
c.1771C= (p.Gln591=)
c.1756C= (p.Gln586=)
7g.17339626C>GCA366895222AHRc.1801C>G (p.Gln601Glu)
c.1771C>G (p.Gln591Glu)
c.1756C>G (p.Gln586Glu)
7g.17339626C>TCA154120903AHRc.1801C>T (p.Gln601Ter)
c.1771C>T (p.Gln591Ter)
c.1756C>T (p.Gln586Ter)
dbSNP
7g.17339627A=CA1691323905AHRc.1802A= (p.Gln601=)
c.1772A= (p.Gln591=)
c.1757A= (p.Gln586=)
7g.17339627A>CCA366895223AHRc.1802A>C (p.Gln601Pro)
c.1772A>C (p.Gln591Pro)
c.1757A>C (p.Gln586Pro)
7g.17339627A>GCA366895224AHRc.1802A>G (p.Gln601Arg)
c.1772A>G (p.Gln591Arg)
c.1757A>G (p.Gln586Arg)
dbSNP gnomAD v2 gnomAD v4
7g.17339627A>TCA366895225AHRc.1802A>T (p.Gln601Leu)
c.1772A>T (p.Gln591Leu)
c.1757A>T (p.Gln586Leu)
7g.17339628G>ACA154120917AHRc.1803G>A (p.Gln601=)
c.1773G>A (p.Gln591=)
c.1758G>A (p.Gln586=)
dbSNP
7g.17339628G>CCA366895226AHRc.1803G>C (p.Gln601His)
c.1773G>C (p.Gln591His)
c.1758G>C (p.Gln586His)
7g.17339628G=CA1691323906AHRc.1803G= (p.Gln601=)
c.1773G= (p.Gln591=)
c.1758G= (p.Gln586=)
7g.17339628G>TCA366895227AHRc.1803G>T (p.Gln601His)
c.1773G>T (p.Gln591His)
c.1758G>T (p.Gln586His)
7g.17339629C>ACA366895228AHRc.1804C>A (p.Gln602Lys)
c.1774C>A (p.Gln592Lys)
c.1759C>A (p.Gln587Lys)
7g.17339629C=CA1691323907AHRc.1804C= (p.Gln602=)
c.1774C= (p.Gln592=)
c.1759C= (p.Gln587=)
7g.17339629C>GCA366895229AHRc.1804C>G (p.Gln602Glu)
c.1774C>G (p.Gln592Glu)
c.1759C>G (p.Gln587Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339629C>TCA366895230AHRc.1804C>T (p.Gln602Ter)
c.1774C>T (p.Gln592Ter)
c.1759C>T (p.Gln587Ter)
gnomAD v4
7g.17339630A>CCA366895232AHRc.1805A>C (p.Gln602Pro)
c.1775A>C (p.Gln592Pro)
c.1760A>C (p.Gln587Pro)
7g.17339630A>GCA366895233AHRc.1805A>G (p.Gln602Arg)
c.1775A>G (p.Gln592Arg)
c.1760A>G (p.Gln587Arg)
7g.17339630A>TCA366895231AHRc.1805A>T (p.Gln602Leu)
c.1775A>T (p.Gln592Leu)
c.1760A>T (p.Gln587Leu)
7g.17339631A>CCA366895235AHRc.1806A>C (p.Gln602His)
c.1776A>C (p.Gln592His)
c.1761A>C (p.Gln587His)
7g.17339631A>GCA454134181AHRc.1806A>G (p.Gln602=)
c.1776A>G (p.Gln592=)
c.1761A>G (p.Gln587=)
gnomAD v4
7g.17339631A>TCA366895234AHRc.1806A>T (p.Gln602His)
c.1776A>T (p.Gln592His)
c.1761A>T (p.Gln587His)
7g.17339632C>ACA366895236AHRc.1807C>A (p.Gln603Lys)
c.1777C>A (p.Gln593Lys)
c.1762C>A (p.Gln588Lys)
7g.17339632C>GCA366895237AHRc.1807C>G (p.Gln603Glu)
c.1777C>G (p.Gln593Glu)
c.1762C>G (p.Gln588Glu)
7g.17339632C>TCA366895238AHRc.1807C>T (p.Gln603Ter)
c.1777C>T (p.Gln593Ter)
c.1762C>T (p.Gln588Ter)
gnomAD v4
7g.17339633A>CCA366895239AHRc.1808A>C (p.Gln603Pro)
c.1778A>C (p.Gln593Pro)
c.1763A>C (p.Gln588Pro)
7g.17339633A>GCA366895240AHRc.1808A>G (p.Gln603Arg)
c.1778A>G (p.Gln593Arg)
c.1763A>G (p.Gln588Arg)
7g.17339633A>TCA366895241AHRc.1808A>T (p.Gln603Leu)
c.1778A>T (p.Gln593Leu)
c.1763A>T (p.Gln588Leu)
7g.17339634G>ACA454134182AHRc.1809G>A (p.Gln603=)
c.1779G>A (p.Gln593=)
c.1764G>A (p.Gln588=)
gnomAD v4
7g.17339634G>CCA366895242AHRc.1809G>C (p.Gln603His)
c.1779G>C (p.Gln593His)
c.1764G>C (p.Gln588His)
7g.17339634G=CA1691323908AHRc.1809G= (p.Gln603=)
c.1779G= (p.Gln593=)
c.1764G= (p.Gln588=)
7g.17339634G>TCA4172186AHRc.1809G>T (p.Gln603His)
c.1779G>T (p.Gln593His)
c.1764G>T (p.Gln588His)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339635T>ACA366895243AHRc.1810T>A (p.Ser604Thr)
c.1780T>A (p.Ser594Thr)
c.1765T>A (p.Ser589Thr)
7g.17339635T>CCA366895244AHRc.1810T>C (p.Ser604Pro)
c.1780T>C (p.Ser594Pro)
c.1765T>C (p.Ser589Pro)
gnomAD v4
7g.17339635T>GCA366895245AHRc.1810T>G (p.Ser604Ala)
c.1780T>G (p.Ser594Ala)
c.1765T>G (p.Ser589Ala)
7g.17339636C>ACA366895248AHRc.1811C>A (p.Ser604Tyr)
c.1781C>A (p.Ser594Tyr)
c.1766C>A (p.Ser589Tyr)
dbSNP
7g.17339636C=CA1691323909AHRc.1811C= (p.Ser604=)
c.1781C= (p.Ser594=)
c.1766C= (p.Ser589=)
7g.17339636C>GCA366895247AHRc.1811C>G (p.Ser604Cys)
c.1781C>G (p.Ser594Cys)
c.1766C>G (p.Ser589Cys)
7g.17339636C>TCA366895246AHRc.1811C>T (p.Ser604Phe)
c.1781C>T (p.Ser594Phe)
c.1766C>T (p.Ser589Phe)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched