Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168237C>ACA372343964DENND3c.1987C>A (p.Leu663Met)
c.1747C>A (p.Leu583Met)
c.1591C>A (p.Leu531Met)
c.1760C>A
n.1528C>A
c.1786C>A (p.Leu596Met)
c.1630C>A (p.Leu544Met)
c.1753C>A (p.Leu585Met)
c.1243C>A (p.Leu415Met)
c.1420C>A (p.Leu474Met)
c.1414C>A (p.Leu472Met)
c.955C>A (p.Leu319Met)
c.484C>A (p.Leu162Met)
n.1916C>A
n.2083C>A
c.1831C>A (p.Leu611Met)
c.523C>A (p.Leu175Met)
n.2133C>A
n.2106C>A
8g.141168237C>GCA372343965DENND3c.1987C>G (p.Leu663Val)
c.1747C>G (p.Leu583Val)
c.1591C>G (p.Leu531Val)
c.1760C>G
n.1528C>G
c.1786C>G (p.Leu596Val)
c.1630C>G (p.Leu544Val)
c.1753C>G (p.Leu585Val)
c.1243C>G (p.Leu415Val)
c.1420C>G (p.Leu474Val)
c.1414C>G (p.Leu472Val)
c.955C>G (p.Leu319Val)
c.484C>G (p.Leu162Val)
n.1916C>G
n.2083C>G
c.1831C>G (p.Leu611Val)
c.523C>G (p.Leu175Val)
n.2133C>G
n.2106C>G
8g.141168237C>TCA463493647DENND3c.1987C>T (p.Leu663=)
c.1747C>T (p.Leu583=)
c.1591C>T (p.Leu531=)
c.1760C>T
n.1528C>T
c.1786C>T (p.Leu596=)
c.1630C>T (p.Leu544=)
c.1753C>T (p.Leu585=)
c.1243C>T (p.Leu415=)
c.1420C>T (p.Leu474=)
c.1414C>T (p.Leu472=)
c.955C>T (p.Leu319=)
c.484C>T (p.Leu162=)
n.1916C>T
n.2083C>T
c.1831C>T (p.Leu611=)
c.523C>T (p.Leu175=)
n.2133C>T
n.2106C>T
gnomAD v4
8g.141168238T>ACA372343966DENND3c.1988T>A (p.Leu663Gln)
c.1748T>A (p.Leu583Gln)
c.1592T>A (p.Leu531Gln)
c.1761T>A
n.1529T>A
c.1787T>A (p.Leu596Gln)
c.1631T>A (p.Leu544Gln)
c.1754T>A (p.Leu585Gln)
c.1244T>A (p.Leu415Gln)
c.1421T>A (p.Leu474Gln)
c.1415T>A (p.Leu472Gln)
c.956T>A (p.Leu319Gln)
c.485T>A (p.Leu162Gln)
n.1917T>A
n.2084T>A
c.1832T>A (p.Leu611Gln)
c.524T>A (p.Leu175Gln)
n.2134T>A
n.2107T>A
8g.141168238T>CCA372343967DENND3c.1988T>C (p.Leu663Pro)
c.1748T>C (p.Leu583Pro)
c.1592T>C (p.Leu531Pro)
c.1761T>C
n.1529T>C
c.1787T>C (p.Leu596Pro)
c.1631T>C (p.Leu544Pro)
c.1754T>C (p.Leu585Pro)
c.1244T>C (p.Leu415Pro)
c.1421T>C (p.Leu474Pro)
c.1415T>C (p.Leu472Pro)
c.956T>C (p.Leu319Pro)
c.485T>C (p.Leu162Pro)
n.1917T>C
n.2084T>C
c.1832T>C (p.Leu611Pro)
c.524T>C (p.Leu175Pro)
n.2134T>C
n.2107T>C
8g.141168238T>GCA372343968DENND3c.1988T>G (p.Leu663Arg)
c.1748T>G (p.Leu583Arg)
c.1592T>G (p.Leu531Arg)
c.1761T>G
n.1529T>G
c.1787T>G (p.Leu596Arg)
c.1631T>G (p.Leu544Arg)
c.1754T>G (p.Leu585Arg)
c.1244T>G (p.Leu415Arg)
c.1421T>G (p.Leu474Arg)
c.1415T>G (p.Leu472Arg)
c.956T>G (p.Leu319Arg)
c.485T>G (p.Leu162Arg)
n.1917T>G
n.2084T>G
c.1832T>G (p.Leu611Arg)
c.524T>G (p.Leu175Arg)
n.2134T>G
n.2107T>G
8g.141168239G>ACA463493652DENND3c.1989G>A (p.Leu663=)
c.1749G>A (p.Leu583=)
c.1593G>A (p.Leu531=)
c.1762G>A
n.1530G>A
c.1788G>A (p.Leu596=)
c.1632G>A (p.Leu544=)
c.1755G>A (p.Leu585=)
c.1245G>A (p.Leu415=)
c.1422G>A (p.Leu474=)
c.1416G>A (p.Leu472=)
c.957G>A (p.Leu319=)
c.486G>A (p.Leu162=)
n.1918G>A
n.2085G>A
c.1833G>A (p.Leu611=)
c.525G>A (p.Leu175=)
n.2135G>A
n.2108G>A
8g.141168239G>CCA463493653DENND3c.1989G>C (p.Leu663=)
c.1749G>C (p.Leu583=)
c.1593G>C (p.Leu531=)
c.1762G>C
n.1530G>C
c.1788G>C (p.Leu596=)
c.1632G>C (p.Leu544=)
c.1755G>C (p.Leu585=)
c.1245G>C (p.Leu415=)
c.1422G>C (p.Leu474=)
c.1416G>C (p.Leu472=)
c.957G>C (p.Leu319=)
c.486G>C (p.Leu162=)
n.1918G>C
n.2085G>C
c.1833G>C (p.Leu611=)
c.525G>C (p.Leu175=)
n.2135G>C
n.2108G>C
8g.141168239G>TCA463493655DENND3c.1989G>T (p.Leu663=)
c.1749G>T (p.Leu583=)
c.1593G>T (p.Leu531=)
c.1762G>T
n.1530G>T
c.1788G>T (p.Leu596=)
c.1632G>T (p.Leu544=)
c.1755G>T (p.Leu585=)
c.1245G>T (p.Leu415=)
c.1422G>T (p.Leu474=)
c.1416G>T (p.Leu472=)
c.957G>T (p.Leu319=)
c.486G>T (p.Leu162=)
n.1918G>T
n.2085G>T
c.1833G>T (p.Leu611=)
c.525G>T (p.Leu175=)
n.2135G>T
n.2108G>T
8g.141168240T>ACA372343970DENND3c.1990T>A (p.Tyr664Asn)
c.1750T>A (p.Tyr584Asn)
c.1594T>A (p.Tyr532Asn)
c.1763T>A
n.1531T>A
c.1789T>A (p.Tyr597Asn)
c.1633T>A (p.Tyr545Asn)
c.1756T>A (p.Tyr586Asn)
c.1246T>A (p.Tyr416Asn)
c.1423T>A (p.Tyr475Asn)
c.1417T>A (p.Tyr473Asn)
c.958T>A (p.Tyr320Asn)
c.487T>A (p.Tyr163Asn)
n.1919T>A
n.2086T>A
c.1834T>A (p.Tyr612Asn)
c.526T>A (p.Tyr176Asn)
n.2136T>A
n.2109T>A
8g.141168240T>CCA372343971DENND3c.1990T>C (p.Tyr664His)
c.1750T>C (p.Tyr584His)
c.1594T>C (p.Tyr532His)
c.1763T>C
n.1531T>C
c.1789T>C (p.Tyr597His)
c.1633T>C (p.Tyr545His)
c.1756T>C (p.Tyr586His)
c.1246T>C (p.Tyr416His)
c.1423T>C (p.Tyr475His)
c.1417T>C (p.Tyr473His)
c.958T>C (p.Tyr320His)
c.487T>C (p.Tyr163His)
n.1919T>C
n.2086T>C
c.1834T>C (p.Tyr612His)
c.526T>C (p.Tyr176His)
n.2136T>C
n.2109T>C
8g.141168240T>GCA372343969DENND3c.1990T>G (p.Tyr664Asp)
c.1750T>G (p.Tyr584Asp)
c.1594T>G (p.Tyr532Asp)
c.1763T>G
n.1531T>G
c.1789T>G (p.Tyr597Asp)
c.1633T>G (p.Tyr545Asp)
c.1756T>G (p.Tyr586Asp)
c.1246T>G (p.Tyr416Asp)
c.1423T>G (p.Tyr475Asp)
c.1417T>G (p.Tyr473Asp)
c.958T>G (p.Tyr320Asp)
c.487T>G (p.Tyr163Asp)
n.1919T>G
n.2086T>G
c.1834T>G (p.Tyr612Asp)
c.526T>G (p.Tyr176Asp)
n.2136T>G
n.2109T>G
8g.141168241A>CCA372343972DENND3c.1991A>C (p.Tyr664Ser)
c.1751A>C (p.Tyr584Ser)
c.1595A>C (p.Tyr532Ser)
c.1764A>C
n.1532A>C
c.1790A>C (p.Tyr597Ser)
c.1634A>C (p.Tyr545Ser)
c.1757A>C (p.Tyr586Ser)
c.1247A>C (p.Tyr416Ser)
c.1424A>C (p.Tyr475Ser)
c.1418A>C (p.Tyr473Ser)
c.959A>C (p.Tyr320Ser)
c.488A>C (p.Tyr163Ser)
n.1920A>C
n.2087A>C
c.1835A>C (p.Tyr612Ser)
c.527A>C (p.Tyr176Ser)
n.2137A>C
n.2110A>C
8g.141168241A>GCA372343973DENND3c.1991A>G (p.Tyr664Cys)
c.1751A>G (p.Tyr584Cys)
c.1595A>G (p.Tyr532Cys)
c.1764A>G
n.1532A>G
c.1790A>G (p.Tyr597Cys)
c.1634A>G (p.Tyr545Cys)
c.1757A>G (p.Tyr586Cys)
c.1247A>G (p.Tyr416Cys)
c.1424A>G (p.Tyr475Cys)
c.1418A>G (p.Tyr473Cys)
c.959A>G (p.Tyr320Cys)
c.488A>G (p.Tyr163Cys)
n.1920A>G
n.2087A>G
c.1835A>G (p.Tyr612Cys)
c.527A>G (p.Tyr176Cys)
n.2137A>G
n.2110A>G
dbSNP gnomAD v4
8g.141168241A>TCA372343974DENND3c.1991A>T (p.Tyr664Phe)
c.1751A>T (p.Tyr584Phe)
c.1595A>T (p.Tyr532Phe)
c.1764A>T
n.1532A>T
c.1790A>T (p.Tyr597Phe)
c.1634A>T (p.Tyr545Phe)
c.1757A>T (p.Tyr586Phe)
c.1247A>T (p.Tyr416Phe)
c.1424A>T (p.Tyr475Phe)
c.1418A>T (p.Tyr473Phe)
c.959A>T (p.Tyr320Phe)
c.488A>T (p.Tyr163Phe)
n.1920A>T
n.2087A>T
c.1835A>T (p.Tyr612Phe)
c.527A>T (p.Tyr176Phe)
n.2137A>T
n.2110A>T
8g.141168242T>ACA372343975DENND3c.1992T>A (p.Tyr664Ter)
c.1752T>A (p.Tyr584Ter)
c.1596T>A (p.Tyr532Ter)
c.1765T>A
n.1533T>A
c.1791T>A (p.Tyr597Ter)
c.1635T>A (p.Tyr545Ter)
c.1758T>A (p.Tyr586Ter)
c.1248T>A (p.Tyr416Ter)
c.1425T>A (p.Tyr475Ter)
c.1419T>A (p.Tyr473Ter)
c.960T>A (p.Tyr320Ter)
c.489T>A (p.Tyr163Ter)
n.1921T>A
n.2088T>A
c.1836T>A (p.Tyr612Ter)
c.528T>A (p.Tyr176Ter)
n.2138T>A
n.2111T>A
8g.141168242T>CCA463493668DENND3c.1992T>C (p.Tyr664=)
c.1752T>C (p.Tyr584=)
c.1596T>C (p.Tyr532=)
c.1765T>C
n.1533T>C
c.1791T>C (p.Tyr597=)
c.1635T>C (p.Tyr545=)
c.1758T>C (p.Tyr586=)
c.1248T>C (p.Tyr416=)
c.1425T>C (p.Tyr475=)
c.1419T>C (p.Tyr473=)
c.960T>C (p.Tyr320=)
c.489T>C (p.Tyr163=)
n.1921T>C
n.2088T>C
c.1836T>C (p.Tyr612=)
c.528T>C (p.Tyr176=)
n.2138T>C
n.2111T>C
8g.141168242T>GCA372343976DENND3c.1992T>G (p.Tyr664Ter)
c.1752T>G (p.Tyr584Ter)
c.1596T>G (p.Tyr532Ter)
c.1765T>G
n.1533T>G
c.1791T>G (p.Tyr597Ter)
c.1635T>G (p.Tyr545Ter)
c.1758T>G (p.Tyr586Ter)
c.1248T>G (p.Tyr416Ter)
c.1425T>G (p.Tyr475Ter)
c.1419T>G (p.Tyr473Ter)
c.960T>G (p.Tyr320Ter)
c.489T>G (p.Tyr163Ter)
n.1921T>G
n.2088T>G
c.1836T>G (p.Tyr612Ter)
c.528T>G (p.Tyr176Ter)
n.2138T>G
n.2111T>G
8g.141168243A>CCA372343979DENND3c.1993A>C (p.Lys665Gln)
c.1753A>C (p.Lys585Gln)
c.1597A>C (p.Lys533Gln)
c.1766A>C
n.1534A>C
c.1792A>C (p.Lys598Gln)
c.1636A>C (p.Lys546Gln)
c.1759A>C (p.Lys587Gln)
c.1249A>C (p.Lys417Gln)
c.1426A>C (p.Lys476Gln)
c.1420A>C (p.Lys474Gln)
c.961A>C (p.Lys321Gln)
c.490A>C (p.Lys164Gln)
n.1922A>C
n.2089A>C
c.1837A>C (p.Lys613Gln)
c.529A>C (p.Lys177Gln)
n.2139A>C
n.2112A>C
8g.141168243A>GCA372343977DENND3c.1993A>G (p.Lys665Glu)
c.1753A>G (p.Lys585Glu)
c.1597A>G (p.Lys533Glu)
c.1766A>G
n.1534A>G
c.1792A>G (p.Lys598Glu)
c.1636A>G (p.Lys546Glu)
c.1759A>G (p.Lys587Glu)
c.1249A>G (p.Lys417Glu)
c.1426A>G (p.Lys476Glu)
c.1420A>G (p.Lys474Glu)
c.961A>G (p.Lys321Glu)
c.490A>G (p.Lys164Glu)
n.1922A>G
n.2089A>G
c.1837A>G (p.Lys613Glu)
c.529A>G (p.Lys177Glu)
n.2139A>G
n.2112A>G
8g.141168243A>TCA372343978DENND3c.1993A>T (p.Lys665Ter)
c.1753A>T (p.Lys585Ter)
c.1597A>T (p.Lys533Ter)
c.1766A>T
n.1534A>T
c.1792A>T (p.Lys598Ter)
c.1636A>T (p.Lys546Ter)
c.1759A>T (p.Lys587Ter)
c.1249A>T (p.Lys417Ter)
c.1426A>T (p.Lys476Ter)
c.1420A>T (p.Lys474Ter)
c.961A>T (p.Lys321Ter)
c.490A>T (p.Lys164Ter)
n.1922A>T
n.2089A>T
c.1837A>T (p.Lys613Ter)
c.529A>T (p.Lys177Ter)
n.2139A>T
n.2112A>T
8g.141168244A>CCA372343980DENND3c.1994A>C (p.Lys665Thr)
c.1754A>C (p.Lys585Thr)
c.1598A>C (p.Lys533Thr)
c.1767A>C
n.1535A>C
c.1793A>C (p.Lys598Thr)
c.1637A>C (p.Lys546Thr)
c.1760A>C (p.Lys587Thr)
c.1250A>C (p.Lys417Thr)
c.1427A>C (p.Lys476Thr)
c.1421A>C (p.Lys474Thr)
c.962A>C (p.Lys321Thr)
c.491A>C (p.Lys164Thr)
n.1923A>C
n.2090A>C
c.1838A>C (p.Lys613Thr)
c.530A>C (p.Lys177Thr)
n.2140A>C
n.2113A>C
8g.141168244A>GCA372343981DENND3c.1994A>G (p.Lys665Arg)
c.1754A>G (p.Lys585Arg)
c.1598A>G (p.Lys533Arg)
c.1767A>G
n.1535A>G
c.1793A>G (p.Lys598Arg)
c.1637A>G (p.Lys546Arg)
c.1760A>G (p.Lys587Arg)
c.1250A>G (p.Lys417Arg)
c.1427A>G (p.Lys476Arg)
c.1421A>G (p.Lys474Arg)
c.962A>G (p.Lys321Arg)
c.491A>G (p.Lys164Arg)
n.1923A>G
n.2090A>G
c.1838A>G (p.Lys613Arg)
c.530A>G (p.Lys177Arg)
n.2140A>G
n.2113A>G
gnomAD v4
8g.141168244A>TCA372343982DENND3c.1994A>T (p.Lys665Ile)
c.1754A>T (p.Lys585Ile)
c.1598A>T (p.Lys533Ile)
c.1767A>T
n.1535A>T
c.1793A>T (p.Lys598Ile)
c.1637A>T (p.Lys546Ile)
c.1760A>T (p.Lys587Ile)
c.1250A>T (p.Lys417Ile)
c.1427A>T (p.Lys476Ile)
c.1421A>T (p.Lys474Ile)
c.962A>T (p.Lys321Ile)
c.491A>T (p.Lys164Ile)
n.1923A>T
n.2090A>T
c.1838A>T (p.Lys613Ile)
c.530A>T (p.Lys177Ile)
n.2140A>T
n.2113A>T
dbSNP
8g.141168245A>CCA372343983DENND3c.1995A>C (p.Lys665Asn)
c.1755A>C (p.Lys585Asn)
c.1599A>C (p.Lys533Asn)
c.1768A>C
n.1536A>C
c.1794A>C (p.Lys598Asn)
c.1638A>C (p.Lys546Asn)
c.1761A>C (p.Lys587Asn)
c.1251A>C (p.Lys417Asn)
c.1428A>C (p.Lys476Asn)
c.1422A>C (p.Lys474Asn)
c.963A>C (p.Lys321Asn)
c.492A>C (p.Lys164Asn)
n.1924A>C
n.2091A>C
c.1839A>C (p.Lys613Asn)
c.531A>C (p.Lys177Asn)
n.2141A>C
n.2114A>C
8g.141168245A>GCA463493679DENND3c.1995A>G (p.Lys665=)
c.1755A>G (p.Lys585=)
c.1599A>G (p.Lys533=)
c.1768A>G
n.1536A>G
c.1794A>G (p.Lys598=)
c.1638A>G (p.Lys546=)
c.1761A>G (p.Lys587=)
c.1251A>G (p.Lys417=)
c.1428A>G (p.Lys476=)
c.1422A>G (p.Lys474=)
c.963A>G (p.Lys321=)
c.492A>G (p.Lys164=)
n.1924A>G
n.2091A>G
c.1839A>G (p.Lys613=)
c.531A>G (p.Lys177=)
n.2141A>G
n.2114A>G
8g.141168245A>TCA372343984DENND3c.1995A>T (p.Lys665Asn)
c.1755A>T (p.Lys585Asn)
c.1599A>T (p.Lys533Asn)
c.1768A>T
n.1536A>T
c.1794A>T (p.Lys598Asn)
c.1638A>T (p.Lys546Asn)
c.1761A>T (p.Lys587Asn)
c.1251A>T (p.Lys417Asn)
c.1428A>T (p.Lys476Asn)
c.1422A>T (p.Lys474Asn)
c.963A>T (p.Lys321Asn)
c.492A>T (p.Lys164Asn)
n.1924A>T
n.2091A>T
c.1839A>T (p.Lys613Asn)
c.531A>T (p.Lys177Asn)
n.2141A>T
n.2114A>T
8g.141168246A>CCA372343987DENND3c.1996A>C (p.Thr666Pro)
c.1756A>C (p.Thr586Pro)
c.1600A>C (p.Thr534Pro)
c.1769A>C
n.1537A>C
c.1795A>C (p.Thr599Pro)
c.1639A>C (p.Thr547Pro)
c.1762A>C (p.Thr588Pro)
c.1252A>C (p.Thr418Pro)
c.1429A>C (p.Thr477Pro)
c.1423A>C (p.Thr475Pro)
c.964A>C (p.Thr322Pro)
c.493A>C (p.Thr165Pro)
n.1925A>C
n.2092A>C
c.1840A>C (p.Thr614Pro)
c.532A>C (p.Thr178Pro)
n.2142A>C
n.2115A>C
8g.141168246A>GCA372343986DENND3c.1996A>G (p.Thr666Ala)
c.1756A>G (p.Thr586Ala)
c.1600A>G (p.Thr534Ala)
c.1769A>G
n.1537A>G
c.1795A>G (p.Thr599Ala)
c.1639A>G (p.Thr547Ala)
c.1762A>G (p.Thr588Ala)
c.1252A>G (p.Thr418Ala)
c.1429A>G (p.Thr477Ala)
c.1423A>G (p.Thr475Ala)
c.964A>G (p.Thr322Ala)
c.493A>G (p.Thr165Ala)
n.1925A>G
n.2092A>G
c.1840A>G (p.Thr614Ala)
c.532A>G (p.Thr178Ala)
n.2142A>G
n.2115A>G
8g.141168246A>TCA372343985DENND3c.1996A>T (p.Thr666Ser)
c.1756A>T (p.Thr586Ser)
c.1600A>T (p.Thr534Ser)
c.1769A>T
n.1537A>T
c.1795A>T (p.Thr599Ser)
c.1639A>T (p.Thr547Ser)
c.1762A>T (p.Thr588Ser)
c.1252A>T (p.Thr418Ser)
c.1429A>T (p.Thr477Ser)
c.1423A>T (p.Thr475Ser)
c.964A>T (p.Thr322Ser)
c.493A>T (p.Thr165Ser)
n.1925A>T
n.2092A>T
c.1840A>T (p.Thr614Ser)
c.532A>T (p.Thr178Ser)
n.2142A>T
n.2115A>T
dbSNP gnomAD v3 gnomAD v4
8g.141168247C>ACA372343988DENND3c.1997C>A (p.Thr666Lys)
c.1757C>A (p.Thr586Lys)
c.1601C>A (p.Thr534Lys)
c.1770C>A
n.1538C>A
c.1796C>A (p.Thr599Lys)
c.1640C>A (p.Thr547Lys)
c.1763C>A (p.Thr588Lys)
c.1253C>A (p.Thr418Lys)
c.1430C>A (p.Thr477Lys)
c.1424C>A (p.Thr475Lys)
c.965C>A (p.Thr322Lys)
c.494C>A (p.Thr165Lys)
n.1926C>A
n.2093C>A
c.1841C>A (p.Thr614Lys)
c.533C>A (p.Thr178Lys)
n.2143C>A
n.2116C>A
8g.141168247C>GCA372343989DENND3c.1997C>G (p.Thr666Arg)
c.1757C>G (p.Thr586Arg)
c.1601C>G (p.Thr534Arg)
c.1770C>G
n.1538C>G
c.1796C>G (p.Thr599Arg)
c.1640C>G (p.Thr547Arg)
c.1763C>G (p.Thr588Arg)
c.1253C>G (p.Thr418Arg)
c.1430C>G (p.Thr477Arg)
c.1424C>G (p.Thr475Arg)
c.965C>G (p.Thr322Arg)
c.494C>G (p.Thr165Arg)
n.1926C>G
n.2093C>G
c.1841C>G (p.Thr614Arg)
c.533C>G (p.Thr178Arg)
n.2143C>G
n.2116C>G
gnomAD v4
8g.141168247C>TCA372343990DENND3c.1997C>T (p.Thr666Ile)
c.1757C>T (p.Thr586Ile)
c.1601C>T (p.Thr534Ile)
c.1770C>T
n.1538C>T
c.1796C>T (p.Thr599Ile)
c.1640C>T (p.Thr547Ile)
c.1763C>T (p.Thr588Ile)
c.1253C>T (p.Thr418Ile)
c.1430C>T (p.Thr477Ile)
c.1424C>T (p.Thr475Ile)
c.965C>T (p.Thr322Ile)
c.494C>T (p.Thr165Ile)
n.1926C>T
n.2093C>T
c.1841C>T (p.Thr614Ile)
c.533C>T (p.Thr178Ile)
n.2143C>T
n.2116C>T
gnomAD v4
8g.141168248A>CCA463493689DENND3c.1998A>C (p.Thr666=)
c.1758A>C (p.Thr586=)
c.1602A>C (p.Thr534=)
c.1771A>C
n.1539A>C
c.1797A>C (p.Thr599=)
c.1641A>C (p.Thr547=)
c.1764A>C (p.Thr588=)
c.1254A>C (p.Thr418=)
c.1431A>C (p.Thr477=)
c.1425A>C (p.Thr475=)
c.966A>C (p.Thr322=)
c.495A>C (p.Thr165=)
n.1927A>C
n.2094A>C
c.1842A>C (p.Thr614=)
c.534A>C (p.Thr178=)
n.2144A>C
n.2117A>C
8g.141168248A>GCA463493691DENND3c.1998A>G (p.Thr666=)
c.1758A>G (p.Thr586=)
c.1602A>G (p.Thr534=)
c.1771A>G
n.1539A>G
c.1797A>G (p.Thr599=)
c.1641A>G (p.Thr547=)
c.1764A>G (p.Thr588=)
c.1254A>G (p.Thr418=)
c.1431A>G (p.Thr477=)
c.1425A>G (p.Thr475=)
c.966A>G (p.Thr322=)
c.495A>G (p.Thr165=)
n.1927A>G
n.2094A>G
c.1842A>G (p.Thr614=)
c.534A>G (p.Thr178=)
n.2144A>G
n.2117A>G
dbSNP gnomAD v3 gnomAD v4
8g.141168248A>TCA463493693DENND3c.1998A>T (p.Thr666=)
c.1758A>T (p.Thr586=)
c.1602A>T (p.Thr534=)
c.1771A>T
n.1539A>T
c.1797A>T (p.Thr599=)
c.1641A>T (p.Thr547=)
c.1764A>T (p.Thr588=)
c.1254A>T (p.Thr418=)
c.1431A>T (p.Thr477=)
c.1425A>T (p.Thr475=)
c.966A>T (p.Thr322=)
c.495A>T (p.Thr165=)
n.1927A>T
n.2094A>T
c.1842A>T (p.Thr614=)
c.534A>T (p.Thr178=)
n.2144A>T
n.2117A>T
8g.141168249G>ACA372343991DENND3c.1999G>A (p.Asp667Asn)
c.1759G>A (p.Asp587Asn)
c.1603G>A (p.Asp535Asn)
c.1772G>A
n.1540G>A
c.1798G>A (p.Asp600Asn)
c.1642G>A (p.Asp548Asn)
c.1765G>A (p.Asp589Asn)
c.1255G>A (p.Asp419Asn)
c.1432G>A (p.Asp478Asn)
c.1426G>A (p.Asp476Asn)
c.967G>A (p.Asp323Asn)
c.496G>A (p.Asp166Asn)
n.1928G>A
n.2095G>A
c.1843G>A (p.Asp615Asn)
c.535G>A (p.Asp179Asn)
n.2145G>A
n.2118G>A
8g.141168249G>CCA372343992DENND3c.1999G>C (p.Asp667His)
c.1759G>C (p.Asp587His)
c.1603G>C (p.Asp535His)
c.1772G>C
n.1540G>C
c.1798G>C (p.Asp600His)
c.1642G>C (p.Asp548His)
c.1765G>C (p.Asp589His)
c.1255G>C (p.Asp419His)
c.1432G>C (p.Asp478His)
c.1426G>C (p.Asp476His)
c.967G>C (p.Asp323His)
c.496G>C (p.Asp166His)
n.1928G>C
n.2095G>C
c.1843G>C (p.Asp615His)
c.535G>C (p.Asp179His)
n.2145G>C
n.2118G>C
8g.141168249G>TCA372343993DENND3c.1999G>T (p.Asp667Tyr)
c.1759G>T (p.Asp587Tyr)
c.1603G>T (p.Asp535Tyr)
c.1772G>T
n.1540G>T
c.1798G>T (p.Asp600Tyr)
c.1642G>T (p.Asp548Tyr)
c.1765G>T (p.Asp589Tyr)
c.1255G>T (p.Asp419Tyr)
c.1432G>T (p.Asp478Tyr)
c.1426G>T (p.Asp476Tyr)
c.967G>T (p.Asp323Tyr)
c.496G>T (p.Asp166Tyr)
n.1928G>T
n.2095G>T
c.1843G>T (p.Asp615Tyr)
c.535G>T (p.Asp179Tyr)
n.2145G>T
n.2118G>T
8g.141168250A>CCA372343996DENND3c.2000A>C (p.Asp667Ala)
c.1760A>C (p.Asp587Ala)
c.1604A>C (p.Asp535Ala)
c.1773A>C
n.1541A>C
c.1799A>C (p.Asp600Ala)
c.1643A>C (p.Asp548Ala)
c.1766A>C (p.Asp589Ala)
c.1256A>C (p.Asp419Ala)
c.1433A>C (p.Asp478Ala)
c.1427A>C (p.Asp476Ala)
c.968A>C (p.Asp323Ala)
c.497A>C (p.Asp166Ala)
n.1929A>C
n.2096A>C
c.1844A>C (p.Asp615Ala)
c.536A>C (p.Asp179Ala)
n.2146A>C
n.2119A>C
8g.141168250A>GCA372343995DENND3c.2000A>G (p.Asp667Gly)
c.1760A>G (p.Asp587Gly)
c.1604A>G (p.Asp535Gly)
c.1773A>G
n.1541A>G
c.1799A>G (p.Asp600Gly)
c.1643A>G (p.Asp548Gly)
c.1766A>G (p.Asp589Gly)
c.1256A>G (p.Asp419Gly)
c.1433A>G (p.Asp478Gly)
c.1427A>G (p.Asp476Gly)
c.968A>G (p.Asp323Gly)
c.497A>G (p.Asp166Gly)
n.1929A>G
n.2096A>G
c.1844A>G (p.Asp615Gly)
c.536A>G (p.Asp179Gly)
n.2146A>G
n.2119A>G
8g.141168250A>TCA372343994DENND3c.2000A>T (p.Asp667Val)
c.1760A>T (p.Asp587Val)
c.1604A>T (p.Asp535Val)
c.1773A>T
n.1541A>T
c.1799A>T (p.Asp600Val)
c.1643A>T (p.Asp548Val)
c.1766A>T (p.Asp589Val)
c.1256A>T (p.Asp419Val)
c.1433A>T (p.Asp478Val)
c.1427A>T (p.Asp476Val)
c.968A>T (p.Asp323Val)
c.497A>T (p.Asp166Val)
n.1929A>T
n.2096A>T
c.1844A>T (p.Asp615Val)
c.536A>T (p.Asp179Val)
n.2146A>T
n.2119A>T
8g.141168251C>ACA372343997DENND3c.2001C>A (p.Asp667Glu)
c.1761C>A (p.Asp587Glu)
c.1605C>A (p.Asp535Glu)
c.1774C>A
n.1542C>A
c.1800C>A (p.Asp600Glu)
c.1644C>A (p.Asp548Glu)
c.1767C>A (p.Asp589Glu)
c.1257C>A (p.Asp419Glu)
c.1434C>A (p.Asp478Glu)
c.1428C>A (p.Asp476Glu)
c.969C>A (p.Asp323Glu)
c.498C>A (p.Asp166Glu)
n.1930C>A
n.2097C>A
c.1845C>A (p.Asp615Glu)
c.537C>A (p.Asp179Glu)
n.2147C>A
n.2120C>A
8g.141168251C>GCA372343998DENND3c.2001C>G (p.Asp667Glu)
c.1761C>G (p.Asp587Glu)
c.1605C>G (p.Asp535Glu)
c.1774C>G
n.1542C>G
c.1800C>G (p.Asp600Glu)
c.1644C>G (p.Asp548Glu)
c.1767C>G (p.Asp589Glu)
c.1257C>G (p.Asp419Glu)
c.1434C>G (p.Asp478Glu)
c.1428C>G (p.Asp476Glu)
c.969C>G (p.Asp323Glu)
c.498C>G (p.Asp166Glu)
n.1930C>G
n.2097C>G
c.1845C>G (p.Asp615Glu)
c.537C>G (p.Asp179Glu)
n.2147C>G
n.2120C>G
8g.141168251C>TCA4896788DENND3c.2001C>T (p.Asp667=)
c.1761C>T (p.Asp587=)
c.1605C>T (p.Asp535=)
c.1774C>T
n.1542C>T
c.1800C>T (p.Asp600=)
c.1644C>T (p.Asp548=)
c.1767C>T (p.Asp589=)
c.1257C>T (p.Asp419=)
c.1434C>T (p.Asp478=)
c.1428C>T (p.Asp476=)
c.969C>T (p.Asp323=)
c.498C>T (p.Asp166=)
n.1930C>T
n.2097C>T
c.1845C>T (p.Asp615=)
c.537C>T (p.Asp179=)
n.2147C>T
n.2120C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168252A>CCA372343999DENND3c.2002A>C (p.Ile668Leu)
c.1762A>C (p.Ile588Leu)
c.1606A>C (p.Ile536Leu)
c.1775A>C
n.1543A>C
c.1801A>C (p.Ile601Leu)
c.1645A>C (p.Ile549Leu)
c.1768A>C (p.Ile590Leu)
c.1258A>C (p.Ile420Leu)
c.1435A>C (p.Ile479Leu)
c.1429A>C (p.Ile477Leu)
c.970A>C (p.Ile324Leu)
c.499A>C (p.Ile167Leu)
n.1931A>C
n.2098A>C
c.1846A>C (p.Ile616Leu)
c.538A>C (p.Ile180Leu)
n.2148A>C
n.2121A>C
gnomAD v4
8g.141168252A>GCA372344000DENND3c.2002A>G (p.Ile668Val)
c.1762A>G (p.Ile588Val)
c.1606A>G (p.Ile536Val)
c.1775A>G
n.1543A>G
c.1801A>G (p.Ile601Val)
c.1645A>G (p.Ile549Val)
c.1768A>G (p.Ile590Val)
c.1258A>G (p.Ile420Val)
c.1435A>G (p.Ile479Val)
c.1429A>G (p.Ile477Val)
c.970A>G (p.Ile324Val)
c.499A>G (p.Ile167Val)
n.1931A>G
n.2098A>G
c.1846A>G (p.Ile616Val)
c.538A>G (p.Ile180Val)
n.2148A>G
n.2121A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168252A>TCA372344001DENND3c.2002A>T (p.Ile668Leu)
c.1762A>T (p.Ile588Leu)
c.1606A>T (p.Ile536Leu)
c.1775A>T
n.1543A>T
c.1801A>T (p.Ile601Leu)
c.1645A>T (p.Ile549Leu)
c.1768A>T (p.Ile590Leu)
c.1258A>T (p.Ile420Leu)
c.1435A>T (p.Ile479Leu)
c.1429A>T (p.Ile477Leu)
c.970A>T (p.Ile324Leu)
c.499A>T (p.Ile167Leu)
n.1931A>T
n.2098A>T
c.1846A>T (p.Ile616Leu)
c.538A>T (p.Ile180Leu)
n.2148A>T
n.2121A>T
8g.141168253T>ACA372344002DENND3c.2003T>A (p.Ile668Lys)
c.1763T>A (p.Ile588Lys)
c.1607T>A (p.Ile536Lys)
c.1776T>A
n.1544T>A
c.1802T>A (p.Ile601Lys)
c.1646T>A (p.Ile549Lys)
c.1769T>A (p.Ile590Lys)
c.1259T>A (p.Ile420Lys)
c.1436T>A (p.Ile479Lys)
c.1430T>A (p.Ile477Lys)
c.971T>A (p.Ile324Lys)
c.500T>A (p.Ile167Lys)
n.1932T>A
n.2099T>A
c.1847T>A (p.Ile616Lys)
c.539T>A (p.Ile180Lys)
n.2149T>A
n.2122T>A
8g.141168253T>CCA372344004DENND3c.2003T>C (p.Ile668Thr)
c.1763T>C (p.Ile588Thr)
c.1607T>C (p.Ile536Thr)
c.1776T>C
n.1544T>C
c.1802T>C (p.Ile601Thr)
c.1646T>C (p.Ile549Thr)
c.1769T>C (p.Ile590Thr)
c.1259T>C (p.Ile420Thr)
c.1436T>C (p.Ile479Thr)
c.1430T>C (p.Ile477Thr)
c.971T>C (p.Ile324Thr)
c.500T>C (p.Ile167Thr)
n.1932T>C
n.2099T>C
c.1847T>C (p.Ile616Thr)
c.539T>C (p.Ile180Thr)
n.2149T>C
n.2122T>C
gnomAD v4

Number of alleles fetched