Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
7g.17339637C>ACA454134183AHRc.1812C>A (p.Ser604=)
c.1782C>A (p.Ser594=)
c.1767C>A (p.Ser589=)
7g.17339637C=CA1691323910AHRc.1812C= (p.Ser604=)
c.1782C= (p.Ser594=)
c.1767C= (p.Ser589=)
7g.17339637C>GCA454134184AHRc.1812C>G (p.Ser604=)
c.1782C>G (p.Ser594=)
c.1767C>G (p.Ser589=)
7g.17339637C>TCA454134185AHRc.1812C>T (p.Ser604=)
c.1782C>T (p.Ser594=)
c.1767C>T (p.Ser589=)
 dbSNP
7g.17339638T>ACA366895249AHRc.1813T>A (p.Leu605Met)
c.1783T>A (p.Leu595Met)
c.1768T>A (p.Leu590Met)
7g.17339638T>CCA454134186AHRc.1813T>C (p.Leu605=)
c.1783T>C (p.Leu595=)
c.1768T>C (p.Leu590=)
7g.17339638T>GCA366895250AHRc.1813T>G (p.Leu605Val)
c.1783T>G (p.Leu595Val)
c.1768T>G (p.Leu590Val)
7g.17339639T>ACA366895251AHRc.1814T>A (p.Leu605Ter)
c.1784T>A (p.Leu595Ter)
c.1769T>A (p.Leu590Ter)
7g.17339639T>CCA366895252AHRc.1814T>C (p.Leu605Ser)
c.1784T>C (p.Leu595Ser)
c.1769T>C (p.Leu590Ser)
7g.17339639T>GCA366895253AHRc.1814T>G (p.Leu605Trp)
c.1784T>G (p.Leu595Trp)
c.1769T>G (p.Leu590Trp)
7g.17339640G>ACA454134187AHRc.1815G>A (p.Leu605=)
c.1785G>A (p.Leu595=)
c.1770G>A (p.Leu590=)
7g.17339640G>CCA366895254AHRc.1815G>C (p.Leu605Phe)
c.1785G>C (p.Leu595Phe)
c.1770G>C (p.Leu590Phe)
7g.17339640G>TCA366895255AHRc.1815G>T (p.Leu605Phe)
c.1785G>T (p.Leu595Phe)
c.1770G>T (p.Leu590Phe)
7g.17339641G>ACA366895256AHRc.1816G>A (p.Ala606Thr)
c.1786G>A (p.Ala596Thr)
c.1771G>A (p.Ala591Thr)
7g.17339641G>CCA366895257AHRc.1816G>C (p.Ala606Pro)
c.1786G>C (p.Ala596Pro)
c.1771G>C (p.Ala591Pro)
7g.17339641G>TCA366895258AHRc.1816G>T (p.Ala606Ser)
c.1786G>T (p.Ala596Ser)
c.1771G>T (p.Ala591Ser)
7g.17339642C>ACA366895259AHRc.1817C>A (p.Ala606Asp)
c.1787C>A (p.Ala596Asp)
c.1772C>A (p.Ala591Asp)
7g.17339642C=CA1691323911AHRc.1817C= (p.Ala606=)
c.1787C= (p.Ala596=)
c.1772C= (p.Ala591=)
7g.17339642C>GCA366895260AHRc.1817C>G (p.Ala606Gly)
c.1787C>G (p.Ala596Gly)
c.1772C>G (p.Ala591Gly)
7g.17339642C>TCA154120939AHRc.1817C>T (p.Ala606Val)
c.1787C>T (p.Ala596Val)
c.1772C>T (p.Ala591Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339643T>ACA454134188AHRc.1818T>A (p.Ala606=)
c.1788T>A (p.Ala596=)
c.1773T>A (p.Ala591=)
7g.17339643T>CCA454134189AHRc.1818T>C (p.Ala606=)
c.1788T>C (p.Ala596=)
c.1773T>C (p.Ala591=)
7g.17339643T>GCA454134190AHRc.1818T>G (p.Ala606=)
c.1788T>G (p.Ala596=)
c.1773T>G (p.Ala591=)
7g.17339644C>ACA366895261AHRc.1819C>A (p.Leu607Met)
c.1789C>A (p.Leu597Met)
c.1774C>A (p.Leu592Met)
7g.17339644C=CA1691323912AHRc.1819C= (p.Leu607=)
c.1789C= (p.Leu597=)
c.1774C= (p.Leu592=)
7g.17339644C>GCA4172187AHRc.1819C>G (p.Leu607Val)
c.1789C>G (p.Leu597Val)
c.1774C>G (p.Leu592Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339644C>TCA454134191AHRc.1819C>T (p.Leu607=)
c.1789C>T (p.Leu597=)
c.1774C>T (p.Leu592=)
7g.17339645T>ACA366895262AHRc.1820T>A (p.Leu607Gln)
c.1790T>A (p.Leu597Gln)
c.1775T>A (p.Leu592Gln)
7g.17339645T>CCA4172188AHRc.1820T>C (p.Leu607Pro)
c.1790T>C (p.Leu597Pro)
c.1775T>C (p.Leu592Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339645T>GCA366895263AHRc.1820T>G (p.Leu607Arg)
c.1790T>G (p.Leu597Arg)
c.1775T>G (p.Leu592Arg)
7g.17339645T=CA1691323913AHRc.1820T= (p.Leu607=)
c.1790T= (p.Leu597=)
c.1775T= (p.Leu592=)
7g.17339646G>ACA4172189AHRc.1821G>A (p.Leu607=)
c.1791G>A (p.Leu597=)
c.1776G>A (p.Leu592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339646G>CCA454134192AHRc.1821G>C (p.Leu607=)
c.1791G>C (p.Leu597=)
c.1776G>C (p.Leu592=)
 dbSNP gnomAD v4
7g.17339646G=CA1691323914AHRc.1821G= (p.Leu607=)
c.1791G= (p.Leu597=)
c.1776G= (p.Leu592=)
7g.17339646G>TCA454134193AHRc.1821G>T (p.Leu607=)
c.1791G>T (p.Leu597=)
c.1776G>T (p.Leu592=)
7g.17339647A=CA1691323915AHRc.1822A= (p.Asn608=)
c.1792A= (p.Asn598=)
c.1777A= (p.Asn593=)
7g.17339647A>CCA366895264AHRc.1822A>C (p.Asn608His)
c.1792A>C (p.Asn598His)
c.1777A>C (p.Asn593His)
 dbSNP gnomAD v3 gnomAD v4
7g.17339647A>GCA366895265AHRc.1822A>G (p.Asn608Asp)
c.1792A>G (p.Asn598Asp)
c.1777A>G (p.Asn593Asp)
7g.17339647A>TCA366895266AHRc.1822A>T (p.Asn608Tyr)
c.1792A>T (p.Asn598Tyr)
c.1777A>T (p.Asn593Tyr)
7g.17339648A>CCA366895267AHRc.1823A>C (p.Asn608Thr)
c.1793A>C (p.Asn598Thr)
c.1778A>C (p.Asn593Thr)
7g.17339648A>GCA366895268AHRc.1823A>G (p.Asn608Ser)
c.1793A>G (p.Asn598Ser)
c.1778A>G (p.Asn593Ser)
7g.17339648A>TCA366895269AHRc.1823A>T (p.Asn608Ile)
c.1793A>T (p.Asn598Ile)
c.1778A>T (p.Asn593Ile)
7g.17339649C>ACA366895270AHRc.1824C>A (p.Asn608Lys)
c.1794C>A (p.Asn598Lys)
c.1779C>A (p.Asn593Lys)
7g.17339649C>GCA366895271AHRc.1824C>G (p.Asn608Lys)
c.1794C>G (p.Asn598Lys)
c.1779C>G (p.Asn593Lys)
7g.17339649C>TCA454134194AHRc.1824C>T (p.Asn608=)
c.1794C>T (p.Asn598=)
c.1779C>T (p.Asn593=)
7g.17339650T>ACA366895273AHRc.1825T>A (p.Ser609Thr)
c.1795T>A (p.Ser599Thr)
c.1780T>A (p.Ser594Thr)
7g.17339650T>CCA4172190AHRc.1825T>C (p.Ser609Pro)
c.1795T>C (p.Ser599Pro)
c.1780T>C (p.Ser594Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339650T>GCA366895272AHRc.1825T>G (p.Ser609Ala)
c.1795T>G (p.Ser599Ala)
c.1780T>G (p.Ser594Ala)
7g.17339650T=CA1691323916AHRc.1825T= (p.Ser609=)
c.1795T= (p.Ser599=)
c.1780T= (p.Ser594=)
7g.17339651C>ACA366895274AHRc.1826C>A (p.Ser609Ter)
c.1796C>A (p.Ser599Ter)
c.1781C>A (p.Ser594Ter)
7g.17339651C=CA1691323917AHRc.1826C= (p.Ser609=)
c.1796C= (p.Ser599=)
c.1781C= (p.Ser594=)
7g.17339651C>GCA366895275AHRc.1826C>G (p.Ser609Ter)
c.1796C>G (p.Ser599Ter)
c.1781C>G (p.Ser594Ter)
7g.17339651C>TCA366895276AHRc.1826C>T (p.Ser609Leu)
c.1796C>T (p.Ser599Leu)
c.1781C>T (p.Ser594Leu)
7g.17339652A>CCA454134195AHRc.1827A>C (p.Ser609=)
c.1797A>C (p.Ser599=)
c.1782A>C (p.Ser594=)
7g.17339652A>GCA454134196AHRc.1827A>G (p.Ser609=)
c.1797A>G (p.Ser599=)
c.1782A>G (p.Ser594=)
7g.17339652A>TCA454134197AHRc.1827A>T (p.Ser609=)
c.1797A>T (p.Ser599=)
c.1782A>T (p.Ser594=)
 gnomAD v4
7g.17339653dupCA1691323918AHRc.1828dup (p.Ser610LysfsTer?)
c.1798dup (p.Ser600LysfsTer?)
c.1783dup (p.Ser595LysfsTer?)
 dbSNP
7g.17339653A>CCA366895277AHRc.1828A>C (p.Ser610Arg)
c.1798A>C (p.Ser600Arg)
c.1783A>C (p.Ser595Arg)
7g.17339653A>GCA366895278AHRc.1828A>G (p.Ser610Gly)
c.1798A>G (p.Ser600Gly)
c.1783A>G (p.Ser595Gly)
 gnomAD v4
7g.17339653A>TCA366895279AHRc.1828A>T (p.Ser610Cys)
c.1798A>T (p.Ser600Cys)
c.1783A>T (p.Ser595Cys)
7g.17339654G>ACA366895280AHRc.1829G>A (p.Ser610Asn)
c.1799G>A (p.Ser600Asn)
c.1784G>A (p.Ser595Asn)
7g.17339654G>CCA366895282AHRc.1829G>C (p.Ser610Thr)
c.1799G>C (p.Ser600Thr)
c.1784G>C (p.Ser595Thr)
7g.17339654G>TCA366895281AHRc.1829G>T (p.Ser610Ile)
c.1799G>T (p.Ser600Ile)
c.1784G>T (p.Ser595Ile)
7g.17339655C>ACA366895283AHRc.1830C>A (p.Ser610Arg)
c.1800C>A (p.Ser600Arg)
c.1785C>A (p.Ser595Arg)
 dbSNP gnomAD v4
7g.17339655C=CA1691323919AHRc.1830C= (p.Ser610=)
c.1800C= (p.Ser600=)
c.1785C= (p.Ser595=)
7g.17339655C>GCA366895284AHRc.1830C>G (p.Ser610Arg)
c.1800C>G (p.Ser600Arg)
c.1785C>G (p.Ser595Arg)
7g.17339655C>TCA454134198AHRc.1830C>T (p.Ser610=)
c.1800C>T (p.Ser600=)
c.1785C>T (p.Ser595=)
7g.17339656T>ACA366895285AHRc.1831T>A (p.Cys611Ser)
c.1801T>A (p.Cys601Ser)
c.1786T>A (p.Cys596Ser)
7g.17339656T>CCA366895286AHRc.1831T>C (p.Cys611Arg)
c.1801T>C (p.Cys601Arg)
c.1786T>C (p.Cys596Arg)
7g.17339656T>GCA366895287AHRc.1831T>G (p.Cys611Gly)
c.1801T>G (p.Cys601Gly)
c.1786T>G (p.Cys596Gly)
7g.17339657G>ACA366895289AHRc.1832G>A (p.Cys611Tyr)
c.1802G>A (p.Cys601Tyr)
c.1787G>A (p.Cys596Tyr)
 gnomAD v4
7g.17339657G>CCA366895290AHRc.1832G>C (p.Cys611Ser)
c.1802G>C (p.Cys601Ser)
c.1787G>C (p.Cys596Ser)
7g.17339657G>TCA366895288AHRc.1832G>T (p.Cys611Phe)
c.1802G>T (p.Cys601Phe)
c.1787G>T (p.Cys596Phe)
 gnomAD v4
7g.17339658T>ACA366895292AHRc.1833T>A (p.Cys611Ter)
c.1803T>A (p.Cys601Ter)
c.1788T>A (p.Cys596Ter)
7g.17339658T>CCA454134199AHRc.1833T>C (p.Cys611=)
c.1803T>C (p.Cys601=)
c.1788T>C (p.Cys596=)
7g.17339658T>GCA366895291AHRc.1833T>G (p.Cys611Trp)
c.1803T>G (p.Cys601Trp)
c.1788T>G (p.Cys596Trp)
7g.17339659A=CA1691323920AHRc.1834A= (p.Met612=)
c.1804A= (p.Met602=)
c.1789A= (p.Met597=)
7g.17339659A>CCA366895294AHRc.1834A>C (p.Met612Leu)
c.1804A>C (p.Met602Leu)
c.1789A>C (p.Met597Leu)
7g.17339659A>GCA4172191AHRc.1834A>G (p.Met612Val)
c.1804A>G (p.Met602Val)
c.1789A>G (p.Met597Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339659A>TCA366895293AHRc.1834A>T (p.Met612Leu)
c.1804A>T (p.Met602Leu)
c.1789A>T (p.Met597Leu)
7g.17339660T>ACA366895295AHRc.1835T>A (p.Met612Lys)
c.1805T>A (p.Met602Lys)
c.1790T>A (p.Met597Lys)
7g.17339660T>CCA366895296AHRc.1835T>C (p.Met612Thr)
c.1805T>C (p.Met602Thr)
c.1790T>C (p.Met597Thr)
7g.17339660T>GCA366895297AHRc.1835T>G (p.Met612Arg)
c.1805T>G (p.Met602Arg)
c.1790T>G (p.Met597Arg)
7g.17339661G>ACA366895300AHRc.1836G>A (p.Met612Ile)
c.1806G>A (p.Met602Ile)
c.1791G>A (p.Met597Ile)
7g.17339661G>CCA366895299AHRc.1836G>C (p.Met612Ile)
c.1806G>C (p.Met602Ile)
c.1791G>C (p.Met597Ile)
7g.17339661G>TCA366895298AHRc.1836G>T (p.Met612Ile)
c.1806G>T (p.Met602Ile)
c.1791G>T (p.Met597Ile)
7g.17339662G>ACA366895301AHRc.1837G>A (p.Val613Ile)
c.1807G>A (p.Val603Ile)
c.1792G>A (p.Val598Ile)
 ClinVar gnomAD v4
7g.17339662G>CCA366895302AHRc.1837G>C (p.Val613Leu)
c.1807G>C (p.Val603Leu)
c.1792G>C (p.Val598Leu)
7g.17339662G>TCA366895303AHRc.1837G>T (p.Val613Leu)
c.1807G>T (p.Val603Leu)
c.1792G>T (p.Val598Leu)
 COSMIC
7g.17339663T>ACA366895304AHRc.1838T>A (p.Val613Glu)
c.1808T>A (p.Val603Glu)
c.1793T>A (p.Val598Glu)
7g.17339663T>CCA366895305AHRc.1838T>C (p.Val613Ala)
c.1808T>C (p.Val603Ala)
c.1793T>C (p.Val598Ala)
7g.17339663T>GCA366895306AHRc.1838T>G (p.Val613Gly)
c.1808T>G (p.Val603Gly)
c.1793T>G (p.Val598Gly)
7g.17339664A>CCA454134200AHRc.1839A>C (p.Val613=)
c.1809A>C (p.Val603=)
c.1794A>C (p.Val598=)
7g.17339664A>GCA454134201AHRc.1839A>G (p.Val613=)
c.1809A>G (p.Val603=)
c.1794A>G (p.Val598=)
 gnomAD v4
7g.17339664A>TCA454134202AHRc.1839A>T (p.Val613=)
c.1809A>T (p.Val603=)
c.1794A>T (p.Val598=)
7g.17339665C>ACA366895307AHRc.1840C>A (p.Gln614Lys)
c.1810C>A (p.Gln604Lys)
c.1795C>A (p.Gln599Lys)
7g.17339665C>GCA366895309AHRc.1840C>G (p.Gln614Glu)
c.1810C>G (p.Gln604Glu)
c.1795C>G (p.Gln599Glu)
7g.17339665C>TCA366895308AHRc.1840C>T (p.Gln614Ter)
c.1810C>T (p.Gln604Ter)
c.1795C>T (p.Gln599Ter)
7g.17339666A>CCA366895310AHRc.1841A>C (p.Gln614Pro)
c.1811A>C (p.Gln604Pro)
c.1796A>C (p.Gln599Pro)
 ClinVar
7g.17339666A>GCA366895311AHRc.1841A>G (p.Gln614Arg)
c.1811A>G (p.Gln604Arg)
c.1796A>G (p.Gln599Arg)
 gnomAD v4
7g.17339666A>TCA366895312AHRc.1841A>T (p.Gln614Leu)
c.1811A>T (p.Gln604Leu)
c.1796A>T (p.Gln599Leu)
7g.17339667G>ACA454134203AHRc.1842G>A (p.Gln614=)
c.1812G>A (p.Gln604=)
c.1797G>A (p.Gln599=)
 dbSNP
7g.17339667G>CCA366895313AHRc.1842G>C (p.Gln614His)
c.1812G>C (p.Gln604His)
c.1797G>C (p.Gln599His)
7g.17339667G=CA1691323921AHRc.1842G= (p.Gln614=)
c.1812G= (p.Gln604=)
c.1797G= (p.Gln599=)
7g.17339667G>TCA366895314AHRc.1842G>T (p.Gln614His)
c.1812G>T (p.Gln604His)
c.1797G>T (p.Gln599His)
7g.17339668G>ACA366895315AHRc.1843G>A (p.Glu615Lys)
c.1813G>A (p.Glu605Lys)
c.1798G>A (p.Glu600Lys)
7g.17339668G>CCA366895316AHRc.1843G>C (p.Glu615Gln)
c.1813G>C (p.Glu605Gln)
c.1798G>C (p.Glu600Gln)
 dbSNP
7g.17339668G=CA1691323922AHRc.1843G= (p.Glu615=)
c.1813G= (p.Glu605=)
c.1798G= (p.Glu600=)
7g.17339668G>TCA366895317AHRc.1843G>T (p.Glu615Ter)
c.1813G>T (p.Glu605Ter)
c.1798G>T (p.Glu600Ter)
 COSMIC
7g.17339669A>CCA366895318AHRc.1844A>C (p.Glu615Ala)
c.1814A>C (p.Glu605Ala)
c.1799A>C (p.Glu600Ala)
7g.17339669A>GCA366895319AHRc.1844A>G (p.Glu615Gly)
c.1814A>G (p.Glu605Gly)
c.1799A>G (p.Glu600Gly)
7g.17339669A>TCA366895320AHRc.1844A>T (p.Glu615Val)
c.1814A>T (p.Glu605Val)
c.1799A>T (p.Glu600Val)
7g.17339670A=CA1691323923AHRc.1845A= (p.Glu615=)
c.1815A= (p.Glu605=)
c.1800A= (p.Glu600=)
7g.17339670A>CCA366895322AHRc.1845A>C (p.Glu615Asp)
c.1815A>C (p.Glu605Asp)
c.1800A>C (p.Glu600Asp)
7g.17339670A>GCA454134204AHRc.1845A>G (p.Glu615=)
c.1815A>G (p.Glu605=)
c.1800A>G (p.Glu600=)
 dbSNP gnomAD v4
7g.17339670A>TCA366895321AHRc.1845A>T (p.Glu615Asp)
c.1815A>T (p.Glu605Asp)
c.1800A>T (p.Glu600Asp)
7g.17339671C>ACA366895323AHRc.1846C>A (p.His616Asn)
c.1816C>A (p.His606Asn)
c.1801C>A (p.His601Asn)
7g.17339671C=CA1691323924AHRc.1846C= (p.His616=)
c.1816C= (p.His606=)
c.1801C= (p.His601=)
7g.17339671C>GCA366895324AHRc.1846C>G (p.His616Asp)
c.1816C>G (p.His606Asp)
c.1801C>G (p.His601Asp)
7g.17339671C>TCA366895325AHRc.1846C>T (p.His616Tyr)
c.1816C>T (p.His606Tyr)
c.1801C>T (p.His601Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.17339672A=CA1691323925AHRc.1847A= (p.His616=)
c.1817A= (p.His606=)
c.1802A= (p.His601=)
7g.17339672A>CCA366895326AHRc.1847A>C (p.His616Pro)
c.1817A>C (p.His606Pro)
c.1802A>C (p.His601Pro)
 dbSNP
7g.17339672A>GCA366895327AHRc.1847A>G (p.His616Arg)
c.1817A>G (p.His606Arg)
c.1802A>G (p.His601Arg)
7g.17339672A>TCA366895328AHRc.1847A>T (p.His616Leu)
c.1817A>T (p.His606Leu)
c.1802A>T (p.His601Leu)
7g.17339673C>ACA366895329AHRc.1848C>A (p.His616Gln)
c.1818C>A (p.His606Gln)
c.1803C>A (p.His601Gln)
7g.17339673C>GCA366895330AHRc.1848C>G (p.His616Gln)
c.1818C>G (p.His606Gln)
c.1803C>G (p.His601Gln)
7g.17339673C>TCA454134205AHRc.1848C>T (p.His616=)
c.1818C>T (p.His606=)
c.1803C>T (p.His601=)
7g.17339674C>ACA366895331AHRc.1849C>A (p.Leu617Ile)
c.1819C>A (p.Leu607Ile)
c.1804C>A (p.Leu602Ile)
7g.17339674C=CA1691323926AHRc.1849C= (p.Leu617=)
c.1819C= (p.Leu607=)
c.1804C= (p.Leu602=)
7g.17339674C>GCA366895332AHRc.1849C>G (p.Leu617Val)
c.1819C>G (p.Leu607Val)
c.1804C>G (p.Leu602Val)
 dbSNP
7g.17339674C>TCA454134206AHRc.1849C>T (p.Leu617=)
c.1819C>T (p.Leu607=)
c.1804C>T (p.Leu602=)
7g.17339675T>ACA366895333AHRc.1850T>A (p.Leu617Gln)
c.1820T>A (p.Leu607Gln)
c.1805T>A (p.Leu602Gln)
7g.17339675T>CCA366895334AHRc.1850T>C (p.Leu617Pro)
c.1820T>C (p.Leu607Pro)
c.1805T>C (p.Leu602Pro)
 dbSNP gnomAD v4
7g.17339675T>GCA366895335AHRc.1850T>G (p.Leu617Arg)
c.1820T>G (p.Leu607Arg)
c.1805T>G (p.Leu602Arg)
7g.17339675T=CA1691323927AHRc.1850T= (p.Leu617=)
c.1820T= (p.Leu607=)
c.1805T= (p.Leu602=)
7g.17339676A>CCA454134209AHRc.1851A>C (p.Leu617=)
c.1821A>C (p.Leu607=)
c.1806A>C (p.Leu602=)
7g.17339676A>GCA454134208AHRc.1851A>G (p.Leu617=)
c.1821A>G (p.Leu607=)
c.1806A>G (p.Leu602=)
7g.17339676A>TCA454134207AHRc.1851A>T (p.Leu617=)
c.1821A>T (p.Leu607=)
c.1806A>T (p.Leu602=)
7g.17339677C>ACA366895337AHRc.1852C>A (p.His618Asn)
c.1822C>A (p.His608Asn)
c.1807C>A (p.His603Asn)
7g.17339677C=CA1691323928AHRc.1852C= (p.His618=)
c.1822C= (p.His608=)
c.1807C= (p.His603=)
7g.17339677C>GCA366895336AHRc.1852C>G (p.His618Asp)
c.1822C>G (p.His608Asp)
c.1807C>G (p.His603Asp)
7g.17339677C>TCA4172192AHRc.1852C>T (p.His618Tyr)
c.1822C>T (p.His608Tyr)
c.1807C>T (p.His603Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339678A=CA1691323929AHRc.1853A= (p.His618=)
c.1823A= (p.His608=)
c.1808A= (p.His603=)
7g.17339678A>CCA366895339AHRc.1853A>C (p.His618Pro)
c.1823A>C (p.His608Pro)
c.1808A>C (p.His603Pro)
 gnomAD v4
7g.17339678A>GCA4172193AHRc.1853A>G (p.His618Arg)
c.1823A>G (p.His608Arg)
c.1808A>G (p.His603Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339678A>TCA366895340AHRc.1853A>T (p.His618Leu)
c.1823A>T (p.His608Leu)
c.1808A>T (p.His603Leu)
7g.17339679T>ACA366895341AHRc.1854T>A (p.His618Gln)
c.1824T>A (p.His608Gln)
c.1809T>A (p.His603Gln)
 gnomAD v4
7g.17339679T>CCA454134210AHRc.1854T>C (p.His618=)
c.1824T>C (p.His608=)
c.1809T>C (p.His603=)
7g.17339679T>GCA366895342AHRc.1854T>G (p.His618Gln)
c.1824T>G (p.His608Gln)
c.1809T>G (p.His603Gln)
 dbSNP
7g.17339680C>ACA4172194AHRc.1855C>A (p.Leu619Ile)
c.1825C>A (p.Leu609Ile)
c.1810C>A (p.Leu604Ile)
 dbSNP ExAC gnomAD v2
7g.17339680C=CA1691323930AHRc.1855C= (p.Leu619=)
c.1825C= (p.Leu609=)
c.1810C= (p.Leu604=)
7g.17339680C>GCA366895343AHRc.1855C>G (p.Leu619Val)
c.1825C>G (p.Leu609Val)
c.1810C>G (p.Leu604Val)
 COSMIC
7g.17339680C>TCA454134211AHRc.1855C>T (p.Leu619=)
c.1825C>T (p.Leu609=)
c.1810C>T (p.Leu604=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.17339681T>ACA154121009AHRc.1856T>A (p.Leu619Gln)
c.1826T>A (p.Leu609Gln)
c.1811T>A (p.Leu604Gln)
 dbSNP
7g.17339681T>CCA366895344AHRc.1856T>C (p.Leu619Pro)
c.1826T>C (p.Leu609Pro)
c.1811T>C (p.Leu604Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.17339681T>GCA366895345AHRc.1856T>G (p.Leu619Arg)
c.1826T>G (p.Leu609Arg)
c.1811T>G (p.Leu604Arg)
 gnomAD v4
7g.17339681T=CA1691323931AHRc.1856T= (p.Leu619=)
c.1826T= (p.Leu609=)
c.1811T= (p.Leu604=)
7g.17339682A>CCA454134212AHRc.1857A>C (p.Leu619=)
c.1827A>C (p.Leu609=)
c.1812A>C (p.Leu604=)
7g.17339682A>GCA454134213AHRc.1857A>G (p.Leu619=)
c.1827A>G (p.Leu609=)
c.1812A>G (p.Leu604=)
7g.17339682A>TCA454134214AHRc.1857A>T (p.Leu619=)
c.1827A>T (p.Leu609=)
c.1812A>T (p.Leu604=)
7g.17339683G>ACA366895346AHRc.1858G>A (p.Glu620Lys)
c.1828G>A (p.Glu610Lys)
c.1813G>A (p.Glu605Lys)
7g.17339683G>CCA366895347AHRc.1858G>C (p.Glu620Gln)
c.1828G>C (p.Glu610Gln)
c.1813G>C (p.Glu605Gln)
7g.17339683G>TCA366895348AHRc.1858G>T (p.Glu620Ter)
c.1828G>T (p.Glu610Ter)
c.1813G>T (p.Glu605Ter)
7g.17339684A>CCA366895350AHRc.1859A>C (p.Glu620Ala)
c.1829A>C (p.Glu610Ala)
c.1814A>C (p.Glu605Ala)
7g.17339684A>GCA366895351AHRc.1859A>G (p.Glu620Gly)
c.1829A>G (p.Glu610Gly)
c.1814A>G (p.Glu605Gly)
7g.17339684A>TCA366895349AHRc.1859A>T (p.Glu620Val)
c.1829A>T (p.Glu610Val)
c.1814A>T (p.Glu605Val)
7g.17339685A>CCA366895352AHRc.1860A>C (p.Glu620Asp)
c.1830A>C (p.Glu610Asp)
c.1815A>C (p.Glu605Asp)
7g.17339685A>GCA454134215AHRc.1860A>G (p.Glu620=)
c.1830A>G (p.Glu610=)
c.1815A>G (p.Glu605=)
7g.17339685A>TCA366895353AHRc.1860A>T (p.Glu620Asp)
c.1830A>T (p.Glu610Asp)
c.1815A>T (p.Glu605Asp)
7g.17339686C>ACA366895354AHRc.1861C>A (p.Gln621Lys)
c.1831C>A (p.Gln611Lys)
c.1816C>A (p.Gln606Lys)
7g.17339686C=CA1691323932AHRc.1861C= (p.Gln621=)
c.1831C= (p.Gln611=)
c.1816C= (p.Gln606=)
7g.17339686C>GCA366895355AHRc.1861C>G (p.Gln621Glu)
c.1831C>G (p.Gln611Glu)
c.1816C>G (p.Gln606Glu)
 gnomAD v4
7g.17339686C>TCA366895356AHRc.1861C>T (p.Gln621Ter)
c.1831C>T (p.Gln611Ter)
c.1816C>T (p.Gln606Ter)
 ClinVar dbSNP
7g.17339687A>CCA366895357AHRc.1862A>C (p.Gln621Pro)
c.1832A>C (p.Gln611Pro)
c.1817A>C (p.Gln606Pro)
7g.17339687A>GCA366895358AHRc.1862A>G (p.Gln621Arg)
c.1832A>G (p.Gln611Arg)
c.1817A>G (p.Gln606Arg)
7g.17339687A>TCA366895359AHRc.1862A>T (p.Gln621Leu)
c.1832A>T (p.Gln611Leu)
c.1817A>T (p.Gln606Leu)
7g.17339688G>ACA454134216AHRc.1863G>A (p.Gln621=)
c.1833G>A (p.Gln611=)
c.1818G>A (p.Gln606=)
7g.17339688G>CCA366895360AHRc.1863G>C (p.Gln621His)
c.1833G>C (p.Gln611His)
c.1818G>C (p.Gln606His)
7g.17339688G>TCA366895361AHRc.1863G>T (p.Gln621His)
c.1833G>T (p.Gln611His)
c.1818G>T (p.Gln606His)
7g.17339689C>ACA366895362AHRc.1864C>A (p.Gln622Lys)
c.1834C>A (p.Gln612Lys)
c.1819C>A (p.Gln607Lys)
7g.17339689C>GCA366895363AHRc.1864C>G (p.Gln622Glu)
c.1834C>G (p.Gln612Glu)
c.1819C>G (p.Gln607Glu)
 gnomAD v4
7g.17339689C>TCA366895364AHRc.1864C>T (p.Gln622Ter)
c.1834C>T (p.Gln612Ter)
c.1819C>T (p.Gln607Ter)
7g.17339689_17339690insTTTTTCA2681909913AHRc.1864_1865insTTTTT (p.Gln622LeufsTer11)
c.1834_1835insTTTTT (p.Gln612LeufsTer11)
c.1819_1820insTTTTT (p.Gln607LeufsTer11)
 gnomAD v4
7g.17339690A>CCA366895367AHRc.1865A>C (p.Gln622Pro)
c.1835A>C (p.Gln612Pro)
c.1820A>C (p.Gln607Pro)
7g.17339690A>GCA366895365AHRc.1865A>G (p.Gln622Arg)
c.1835A>G (p.Gln612Arg)
c.1820A>G (p.Gln607Arg)
7g.17339690A>TCA366895366AHRc.1865A>T (p.Gln622Leu)
c.1835A>T (p.Gln612Leu)
c.1820A>T (p.Gln607Leu)
 gnomAD v4
7g.17339690_17339691insCCTTTAAGTATGATGTTAGCTGTGGCA2681909914AHRc.1865_1866insCCTTTAAGTATGATGTTAGCTGTGG (p.Gln622HisfsTer3)
c.1835_1836insCCTTTAAGTATGATGTTAGCTGTGG (p.Gln612HisfsTer3)
c.1820_1821insCCTTTAAGTATGATGTTAGCTGTGG (p.Gln607HisfsTer3)
 gnomAD v4
7g.17339691A>CCA366895368AHRc.1866A>C (p.Gln622His)
c.1836A>C (p.Gln612His)
c.1821A>C (p.Gln607His)
7g.17339691A>GCA454134217AHRc.1866A>G (p.Gln622=)
c.1836A>G (p.Gln612=)
c.1821A>G (p.Gln607=)
7g.17339691A>TCA366895369AHRc.1866A>T (p.Gln622His)
c.1836A>T (p.Gln612His)
c.1821A>T (p.Gln607His)
7g.17339692C>ACA366895370AHRc.1867C>A (p.Gln623Lys)
c.1837C>A (p.Gln613Lys)
c.1822C>A (p.Gln608Lys)
7g.17339692C>GCA366895371AHRc.1867C>G (p.Gln623Glu)
c.1837C>G (p.Gln613Glu)
c.1822C>G (p.Gln608Glu)
7g.17339692C>TCA366895372AHRc.1867C>T (p.Gln623Ter)
c.1837C>T (p.Gln613Ter)
c.1822C>T (p.Gln608Ter)
7g.17339693A>CCA366895373AHRc.1868A>C (p.Gln623Pro)
c.1838A>C (p.Gln613Pro)
c.1823A>C (p.Gln608Pro)
7g.17339693A>GCA366895374AHRc.1868A>G (p.Gln623Arg)
c.1838A>G (p.Gln613Arg)
c.1823A>G (p.Gln608Arg)
 gnomAD v4
7g.17339693A>TCA366895375AHRc.1868A>T (p.Gln623Leu)
c.1838A>T (p.Gln613Leu)
c.1823A>T (p.Gln608Leu)
7g.17339694G>ACA4172195AHRc.1869G>A (p.Gln623=)
c.1839G>A (p.Gln613=)
c.1824G>A (p.Gln608=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.17339694G>CCA366895376AHRc.1869G>C (p.Gln623His)
c.1839G>C (p.Gln613His)
c.1824G>C (p.Gln608His)
7g.17339694G=CA1691323933AHRc.1869G= (p.Gln623=)
c.1839G= (p.Gln613=)
c.1824G= (p.Gln608=)
7g.17339694G>TCA366895377AHRc.1869G>T (p.Gln623His)
c.1839G>T (p.Gln613His)
c.1824G>T (p.Gln608His)
7g.17339695C>ACA366895379AHRc.1870C>A (p.Gln624Lys)
c.1840C>A (p.Gln614Lys)
c.1825C>A (p.Gln609Lys)
7g.17339695C>GCA366895380AHRc.1870C>G (p.Gln624Glu)
c.1840C>G (p.Gln614Glu)
c.1825C>G (p.Gln609Glu)
7g.17339695C>TCA366895378AHRc.1870C>T (p.Gln624Ter)
c.1840C>T (p.Gln614Ter)
c.1825C>T (p.Gln609Ter)
7g.17339696A=CA1691323934AHRc.1871A= (p.Gln624=)
c.1841A= (p.Gln614=)
c.1826A= (p.Gln609=)
7g.17339696A>CCA366895381AHRc.1871A>C (p.Gln624Pro)
c.1841A>C (p.Gln614Pro)
c.1826A>C (p.Gln609Pro)
7g.17339696A>GCA366895382AHRc.1871A>G (p.Gln624Arg)
c.1841A>G (p.Gln614Arg)
c.1826A>G (p.Gln609Arg)
7g.17339696A>TCA4172196AHRc.1871A>T (p.Gln624Leu)
c.1841A>T (p.Gln614Leu)
c.1826A>T (p.Gln609Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339697_17339698insAAACA2578837760AHRc.1872_1873insAAA (p.Gln624_His625insLys)
c.1842_1843insAAA (p.Gln614_His615insLys)
c.1827_1828insAAA (p.Gln609_His610insLys)
7g.17339697A>CCA366895383AHRc.1872A>C (p.Gln624His)
c.1842A>C (p.Gln614His)
c.1827A>C (p.Gln609His)
 gnomAD v4
7g.17339697A>GCA454134218AHRc.1872A>G (p.Gln624=)
c.1842A>G (p.Gln614=)
c.1827A>G (p.Gln609=)
 ClinVar gnomAD v4
7g.17339697A>TCA366895384AHRc.1872A>T (p.Gln624His)
c.1842A>T (p.Gln614His)
c.1827A>T (p.Gln609His)
7g.17339698C>ACA366895385AHRc.1873C>A (p.His625Asn)
c.1843C>A (p.His615Asn)
c.1828C>A (p.His610Asn)
7g.17339698C>GCA366895386AHRc.1873C>G (p.His625Asp)
c.1843C>G (p.His615Asp)
c.1828C>G (p.His610Asp)
7g.17339698C>TCA366895387AHRc.1873C>T (p.His625Tyr)
c.1843C>T (p.His615Tyr)
c.1828C>T (p.His610Tyr)
7g.17339699A>CCA366895388AHRc.1874A>C (p.His625Pro)
c.1844A>C (p.His615Pro)
c.1829A>C (p.His610Pro)
7g.17339699A>GCA366895389AHRc.1874A>G (p.His625Arg)
c.1844A>G (p.His615Arg)
c.1829A>G (p.His610Arg)
7g.17339699A>TCA366895390AHRc.1874A>T (p.His625Leu)
c.1844A>T (p.His615Leu)
c.1829A>T (p.His610Leu)
7g.17339700T>ACA366895391AHRc.1875T>A (p.His625Gln)
c.1845T>A (p.His615Gln)
c.1830T>A (p.His610Gln)
7g.17339700T>CCA454134219AHRc.1875T>C (p.His625=)
c.1845T>C (p.His615=)
c.1830T>C (p.His610=)
7g.17339700T>GCA366895392AHRc.1875T>G (p.His625Gln)
c.1845T>G (p.His615Gln)
c.1830T>G (p.His610Gln)
7g.17339701C>ACA366895395AHRc.1876C>A (p.His626Asn)
c.1846C>A (p.His616Asn)
c.1831C>A (p.His611Asn)
7g.17339701C>GCA366895394AHRc.1876C>G (p.His626Asp)
c.1846C>G (p.His616Asp)
c.1831C>G (p.His611Asp)
7g.17339701C>TCA366895393AHRc.1876C>T (p.His626Tyr)
c.1846C>T (p.His616Tyr)
c.1831C>T (p.His611Tyr)
7g.17339702A>CCA366895396AHRc.1877A>C (p.His626Pro)
c.1847A>C (p.His616Pro)
c.1832A>C (p.His611Pro)
7g.17339702A>GCA366895397AHRc.1877A>G (p.His626Arg)
c.1847A>G (p.His616Arg)
c.1832A>G (p.His611Arg)
7g.17339702A>TCA366895398AHRc.1877A>T (p.His626Leu)
c.1847A>T (p.His616Leu)
c.1832A>T (p.His611Leu)
7g.17339703C>ACA366895399AHRc.1878C>A (p.His626Gln)
c.1848C>A (p.His616Gln)
c.1833C>A (p.His611Gln)
7g.17339703C>GCA366895400AHRc.1878C>G (p.His626Gln)
c.1848C>G (p.His616Gln)
c.1833C>G (p.His611Gln)
 gnomAD v4
7g.17339703C>TCA454134220AHRc.1878C>T (p.His626=)
c.1848C>T (p.His616=)
c.1833C>T (p.His611=)
7g.17339704C>ACA366895401AHRc.1879C>A (p.Gln627Lys)
c.1849C>A (p.Gln617Lys)
c.1834C>A (p.Gln612Lys)
7g.17339704C=CA1691323935AHRc.1879C= (p.Gln627=)
c.1849C= (p.Gln617=)
c.1834C= (p.Gln612=)
7g.17339704C>GCA366895402AHRc.1879C>G (p.Gln627Glu)
c.1849C>G (p.Gln617Glu)
c.1834C>G (p.Gln612Glu)
 dbSNP
7g.17339704C>TCA366895403AHRc.1879C>T (p.Gln627Ter)
c.1849C>T (p.Gln617Ter)
c.1834C>T (p.Gln612Ter)
 dbSNP
7g.17339705A>CCA366895404AHRc.1880A>C (p.Gln627Pro)
c.1850A>C (p.Gln617Pro)
c.1835A>C (p.Gln612Pro)
7g.17339705A>GCA366895405AHRc.1880A>G (p.Gln627Arg)
c.1850A>G (p.Gln617Arg)
c.1835A>G (p.Gln612Arg)
7g.17339705A>TCA366895406AHRc.1880A>T (p.Gln627Leu)
c.1850A>T (p.Gln617Leu)
c.1835A>T (p.Gln612Leu)
7g.17339708delCA2681909915AHRc.1883del (p.Lys628SerfsTer3)
c.1853del (p.Lys618SerfsTer3)
c.1838del (p.Lys613SerfsTer3)
 gnomAD v4
7g.17339706A=CA1691323936AHRc.1881A= (p.Gln627=)
c.1851A= (p.Gln617=)
c.1836A= (p.Gln612=)
7g.17339706A>CCA366895407AHRc.1881A>C (p.Gln627His)
c.1851A>C (p.Gln617His)
c.1836A>C (p.Gln612His)
7g.17339706A>GCA454134221AHRc.1881A>G (p.Gln627=)
c.1851A>G (p.Gln617=)
c.1836A>G (p.Gln612=)
7g.17339706A>TCA4172197AHRc.1881A>T (p.Gln627His)
c.1851A>T (p.Gln617His)
c.1836A>T (p.Gln612His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.17339707A>CCA366895409AHRc.1882A>C (p.Lys628Gln)
c.1852A>C (p.Lys618Gln)
c.1837A>C (p.Lys613Gln)
7g.17339707A>GCA366895410AHRc.1882A>G (p.Lys628Glu)
c.1852A>G (p.Lys618Glu)
c.1837A>G (p.Lys613Glu)
7g.17339707A>TCA366895408AHRc.1882A>T (p.Lys628Ter)
c.1852A>T (p.Lys618Ter)
c.1837A>T (p.Lys613Ter)

Number of alleles fetched