Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168337A>CCA372344186DENND3c.2087A>C (p.Glu696Ala)
c.1847A>C (p.Glu616Ala)
c.1691A>C (p.Glu564Ala)
c.1860A>C
n.1628A>C
c.1886A>C (p.Glu629Ala)
c.1730A>C (p.Glu577Ala)
c.1853A>C (p.Glu618Ala)
c.1343A>C (p.Glu448Ala)
c.1520A>C (p.Glu507Ala)
c.1514A>C (p.Glu505Ala)
c.1055A>C (p.Glu352Ala)
c.584A>C (p.Glu195Ala)
n.2016A>C
n.2183A>C
c.1931A>C (p.Glu644Ala)
c.623A>C (p.Glu208Ala)
n.2233A>C
n.2206A>C
8g.141168337A>GCA372344185DENND3c.2087A>G (p.Glu696Gly)
c.1847A>G (p.Glu616Gly)
c.1691A>G (p.Glu564Gly)
c.1860A>G
n.1628A>G
c.1886A>G (p.Glu629Gly)
c.1730A>G (p.Glu577Gly)
c.1853A>G (p.Glu618Gly)
c.1343A>G (p.Glu448Gly)
c.1520A>G (p.Glu507Gly)
c.1514A>G (p.Glu505Gly)
c.1055A>G (p.Glu352Gly)
c.584A>G (p.Glu195Gly)
n.2016A>G
n.2183A>G
c.1931A>G (p.Glu644Gly)
c.623A>G (p.Glu208Gly)
n.2233A>G
n.2206A>G
8g.141168337A>TCA372344184DENND3c.2087A>T (p.Glu696Val)
c.1847A>T (p.Glu616Val)
c.1691A>T (p.Glu564Val)
c.1860A>T
n.1628A>T
c.1886A>T (p.Glu629Val)
c.1730A>T (p.Glu577Val)
c.1853A>T (p.Glu618Val)
c.1343A>T (p.Glu448Val)
c.1520A>T (p.Glu507Val)
c.1514A>T (p.Glu505Val)
c.1055A>T (p.Glu352Val)
c.584A>T (p.Glu195Val)
n.2016A>T
n.2183A>T
c.1931A>T (p.Glu644Val)
c.623A>T (p.Glu208Val)
n.2233A>T
n.2206A>T
8g.141168338G>ACA463496950DENND3c.2088G>A (p.Glu696=)
c.1848G>A (p.Glu616=)
c.1692G>A (p.Glu564=)
c.1861G>A
n.1629G>A
c.1887G>A (p.Glu629=)
c.1731G>A (p.Glu577=)
c.1854G>A (p.Glu618=)
c.1344G>A (p.Glu448=)
c.1521G>A (p.Glu507=)
c.1515G>A (p.Glu505=)
c.1056G>A (p.Glu352=)
c.585G>A (p.Glu195=)
n.2017G>A
n.2184G>A
c.1932G>A (p.Glu644=)
c.624G>A (p.Glu208=)
n.2234G>A
n.2207G>A
8g.141168338G>CCA372344187DENND3c.2088G>C (p.Glu696Asp)
c.1848G>C (p.Glu616Asp)
c.1692G>C (p.Glu564Asp)
c.1861G>C
n.1629G>C
c.1887G>C (p.Glu629Asp)
c.1731G>C (p.Glu577Asp)
c.1854G>C (p.Glu618Asp)
c.1344G>C (p.Glu448Asp)
c.1521G>C (p.Glu507Asp)
c.1515G>C (p.Glu505Asp)
c.1056G>C (p.Glu352Asp)
c.585G>C (p.Glu195Asp)
n.2017G>C
n.2184G>C
c.1932G>C (p.Glu644Asp)
c.624G>C (p.Glu208Asp)
n.2234G>C
n.2207G>C
8g.141168338G>TCA372344188DENND3c.2088G>T (p.Glu696Asp)
c.1848G>T (p.Glu616Asp)
c.1692G>T (p.Glu564Asp)
c.1861G>T
n.1629G>T
c.1887G>T (p.Glu629Asp)
c.1731G>T (p.Glu577Asp)
c.1854G>T (p.Glu618Asp)
c.1344G>T (p.Glu448Asp)
c.1521G>T (p.Glu507Asp)
c.1515G>T (p.Glu505Asp)
c.1056G>T (p.Glu352Asp)
c.585G>T (p.Glu195Asp)
n.2017G>T
n.2184G>T
c.1932G>T (p.Glu644Asp)
c.624G>T (p.Glu208Asp)
n.2234G>T
n.2207G>T
8g.141168339C>ACA372344189DENND3c.2089C>A (p.Leu697Met)
c.1849C>A (p.Leu617Met)
c.1693C>A (p.Leu565Met)
c.1862C>A
n.1630C>A
c.1888C>A (p.Leu630Met)
c.1732C>A (p.Leu578Met)
c.1855C>A (p.Leu619Met)
c.1345C>A (p.Leu449Met)
c.1522C>A (p.Leu508Met)
c.1516C>A (p.Leu506Met)
c.1057C>A (p.Leu353Met)
c.586C>A (p.Leu196Met)
n.2018C>A
n.2185C>A
c.1933C>A (p.Leu645Met)
c.625C>A (p.Leu209Met)
n.2235C>A
n.2208C>A
8g.141168339C>GCA372344190DENND3c.2089C>G (p.Leu697Val)
c.1849C>G (p.Leu617Val)
c.1693C>G (p.Leu565Val)
c.1862C>G
n.1630C>G
c.1888C>G (p.Leu630Val)
c.1732C>G (p.Leu578Val)
c.1855C>G (p.Leu619Val)
c.1345C>G (p.Leu449Val)
c.1522C>G (p.Leu508Val)
c.1516C>G (p.Leu506Val)
c.1057C>G (p.Leu353Val)
c.586C>G (p.Leu196Val)
n.2018C>G
n.2185C>G
c.1933C>G (p.Leu645Val)
c.625C>G (p.Leu209Val)
n.2235C>G
n.2208C>G
 gnomAD v4
8g.141168339C>TCA463496951DENND3c.2089C>T (p.Leu697=)
c.1849C>T (p.Leu617=)
c.1693C>T (p.Leu565=)
c.1862C>T
n.1630C>T
c.1888C>T (p.Leu630=)
c.1732C>T (p.Leu578=)
c.1855C>T (p.Leu619=)
c.1345C>T (p.Leu449=)
c.1522C>T (p.Leu508=)
c.1516C>T (p.Leu506=)
c.1057C>T (p.Leu353=)
c.586C>T (p.Leu196=)
n.2018C>T
n.2185C>T
c.1933C>T (p.Leu645=)
c.625C>T (p.Leu209=)
n.2235C>T
n.2208C>T
8g.141168340T>ACA372344191DENND3c.2090T>A (p.Leu697Gln)
c.1850T>A (p.Leu617Gln)
c.1694T>A (p.Leu565Gln)
c.1863T>A
n.1631T>A
c.1889T>A (p.Leu630Gln)
c.1733T>A (p.Leu578Gln)
c.1856T>A (p.Leu619Gln)
c.1346T>A (p.Leu449Gln)
c.1523T>A (p.Leu508Gln)
c.1517T>A (p.Leu506Gln)
c.1058T>A (p.Leu353Gln)
c.587T>A (p.Leu196Gln)
n.2019T>A
n.2186T>A
c.1934T>A (p.Leu645Gln)
c.626T>A (p.Leu209Gln)
n.2236T>A
n.2209T>A
8g.141168340T>CCA372344192DENND3c.2090T>C (p.Leu697Pro)
c.1850T>C (p.Leu617Pro)
c.1694T>C (p.Leu565Pro)
c.1863T>C
n.1631T>C
c.1889T>C (p.Leu630Pro)
c.1733T>C (p.Leu578Pro)
c.1856T>C (p.Leu619Pro)
c.1346T>C (p.Leu449Pro)
c.1523T>C (p.Leu508Pro)
c.1517T>C (p.Leu506Pro)
c.1058T>C (p.Leu353Pro)
c.587T>C (p.Leu196Pro)
n.2019T>C
n.2186T>C
c.1934T>C (p.Leu645Pro)
c.626T>C (p.Leu209Pro)
n.2236T>C
n.2209T>C
8g.141168340T>GCA372344193DENND3c.2090T>G (p.Leu697Arg)
c.1850T>G (p.Leu617Arg)
c.1694T>G (p.Leu565Arg)
c.1863T>G
n.1631T>G
c.1889T>G (p.Leu630Arg)
c.1733T>G (p.Leu578Arg)
c.1856T>G (p.Leu619Arg)
c.1346T>G (p.Leu449Arg)
c.1523T>G (p.Leu508Arg)
c.1517T>G (p.Leu506Arg)
c.1058T>G (p.Leu353Arg)
c.587T>G (p.Leu196Arg)
n.2019T>G
n.2186T>G
c.1934T>G (p.Leu645Arg)
c.626T>G (p.Leu209Arg)
n.2236T>G
n.2209T>G
8g.141168341G>ACA463496952DENND3c.2091G>A (p.Leu697=)
c.1851G>A (p.Leu617=)
c.1695G>A (p.Leu565=)
c.1864G>A
n.1632G>A
c.1890G>A (p.Leu630=)
c.1734G>A (p.Leu578=)
c.1857G>A (p.Leu619=)
c.1347G>A (p.Leu449=)
c.1524G>A (p.Leu508=)
c.1518G>A (p.Leu506=)
c.1059G>A (p.Leu353=)
c.588G>A (p.Leu196=)
n.2020G>A
n.2187G>A
c.1935G>A (p.Leu645=)
c.627G>A (p.Leu209=)
n.2237G>A
n.2210G>A
8g.141168341G>CCA463496953DENND3c.2091G>C (p.Leu697=)
c.1851G>C (p.Leu617=)
c.1695G>C (p.Leu565=)
c.1864G>C
n.1632G>C
c.1890G>C (p.Leu630=)
c.1734G>C (p.Leu578=)
c.1857G>C (p.Leu619=)
c.1347G>C (p.Leu449=)
c.1524G>C (p.Leu508=)
c.1518G>C (p.Leu506=)
c.1059G>C (p.Leu353=)
c.588G>C (p.Leu196=)
n.2020G>C
n.2187G>C
c.1935G>C (p.Leu645=)
c.627G>C (p.Leu209=)
n.2237G>C
n.2210G>C
8g.141168341G>TCA463496954DENND3c.2091G>T (p.Leu697=)
c.1851G>T (p.Leu617=)
c.1695G>T (p.Leu565=)
c.1864G>T
n.1632G>T
c.1890G>T (p.Leu630=)
c.1734G>T (p.Leu578=)
c.1857G>T (p.Leu619=)
c.1347G>T (p.Leu449=)
c.1524G>T (p.Leu508=)
c.1518G>T (p.Leu506=)
c.1059G>T (p.Leu353=)
c.588G>T (p.Leu196=)
n.2020G>T
n.2187G>T
c.1935G>T (p.Leu645=)
c.627G>T (p.Leu209=)
n.2237G>T
n.2210G>T
8g.141168342A>CCA372344194DENND3c.2092A>C (p.Met698Leu)
c.1852A>C (p.Met618Leu)
c.1696A>C (p.Met566Leu)
c.1865A>C
n.1633A>C
c.1891A>C (p.Met631Leu)
c.1735A>C (p.Met579Leu)
c.1858A>C (p.Met620Leu)
c.1348A>C (p.Met450Leu)
c.1525A>C (p.Met509Leu)
c.1519A>C (p.Met507Leu)
c.1060A>C (p.Met354Leu)
c.589A>C (p.Met197Leu)
n.2021A>C
n.2188A>C
c.1936A>C (p.Met646Leu)
c.628A>C (p.Met210Leu)
n.2238A>C
n.2211A>C
8g.141168342A>GCA372344195DENND3c.2092A>G (p.Met698Val)
c.1852A>G (p.Met618Val)
c.1696A>G (p.Met566Val)
c.1865A>G
n.1633A>G
c.1891A>G (p.Met631Val)
c.1735A>G (p.Met579Val)
c.1858A>G (p.Met620Val)
c.1348A>G (p.Met450Val)
c.1525A>G (p.Met509Val)
c.1519A>G (p.Met507Val)
c.1060A>G (p.Met354Val)
c.589A>G (p.Met197Val)
n.2021A>G
n.2188A>G
c.1936A>G (p.Met646Val)
c.628A>G (p.Met210Val)
n.2238A>G
n.2211A>G
 dbSNP gnomAD v2 gnomAD v4
8g.141168342A>TCA372344196DENND3c.2092A>T (p.Met698Leu)
c.1852A>T (p.Met618Leu)
c.1696A>T (p.Met566Leu)
c.1865A>T
n.1633A>T
c.1891A>T (p.Met631Leu)
c.1735A>T (p.Met579Leu)
c.1858A>T (p.Met620Leu)
c.1348A>T (p.Met450Leu)
c.1525A>T (p.Met509Leu)
c.1519A>T (p.Met507Leu)
c.1060A>T (p.Met354Leu)
c.589A>T (p.Met197Leu)
n.2021A>T
n.2188A>T
c.1936A>T (p.Met646Leu)
c.628A>T (p.Met210Leu)
n.2238A>T
n.2211A>T
8g.141168343T>ACA372344197DENND3c.2093T>A (p.Met698Lys)
c.1853T>A (p.Met618Lys)
c.1697T>A (p.Met566Lys)
c.1866T>A
n.1634T>A
c.1892T>A (p.Met631Lys)
c.1736T>A (p.Met579Lys)
c.1859T>A (p.Met620Lys)
c.1349T>A (p.Met450Lys)
c.1526T>A (p.Met509Lys)
c.1520T>A (p.Met507Lys)
c.1061T>A (p.Met354Lys)
c.590T>A (p.Met197Lys)
n.2022T>A
n.2189T>A
c.1937T>A (p.Met646Lys)
c.629T>A (p.Met210Lys)
n.2239T>A
n.2212T>A
8g.141168343T>CCA372344198DENND3c.2093T>C (p.Met698Thr)
c.1853T>C (p.Met618Thr)
c.1697T>C (p.Met566Thr)
c.1866T>C
n.1634T>C
c.1892T>C (p.Met631Thr)
c.1736T>C (p.Met579Thr)
c.1859T>C (p.Met620Thr)
c.1349T>C (p.Met450Thr)
c.1526T>C (p.Met509Thr)
c.1520T>C (p.Met507Thr)
c.1061T>C (p.Met354Thr)
c.590T>C (p.Met197Thr)
n.2022T>C
n.2189T>C
c.1937T>C (p.Met646Thr)
c.629T>C (p.Met210Thr)
n.2239T>C
n.2212T>C
8g.141168343T>GCA372344199DENND3c.2093T>G (p.Met698Arg)
c.1853T>G (p.Met618Arg)
c.1697T>G (p.Met566Arg)
c.1866T>G
n.1634T>G
c.1892T>G (p.Met631Arg)
c.1736T>G (p.Met579Arg)
c.1859T>G (p.Met620Arg)
c.1349T>G (p.Met450Arg)
c.1526T>G (p.Met509Arg)
c.1520T>G (p.Met507Arg)
c.1061T>G (p.Met354Arg)
c.590T>G (p.Met197Arg)
n.2022T>G
n.2189T>G
c.1937T>G (p.Met646Arg)
c.629T>G (p.Met210Arg)
n.2239T>G
n.2212T>G
8g.141168344G>ACA372344201DENND3c.2094G>A (p.Met698Ile)
c.1854G>A (p.Met618Ile)
c.1698G>A (p.Met566Ile)
c.1867G>A
n.1635G>A
c.1893G>A (p.Met631Ile)
c.1737G>A (p.Met579Ile)
c.1860G>A (p.Met620Ile)
c.1350G>A (p.Met450Ile)
c.1527G>A (p.Met509Ile)
c.1521G>A (p.Met507Ile)
c.1062G>A (p.Met354Ile)
c.591G>A (p.Met197Ile)
n.2023G>A
n.2190G>A
c.1938G>A (p.Met646Ile)
c.630G>A (p.Met210Ile)
n.2240G>A
n.2213G>A
 gnomAD v4
8g.141168344G>CCA372344202DENND3c.2094G>C (p.Met698Ile)
c.1854G>C (p.Met618Ile)
c.1698G>C (p.Met566Ile)
c.1867G>C
n.1635G>C
c.1893G>C (p.Met631Ile)
c.1737G>C (p.Met579Ile)
c.1860G>C (p.Met620Ile)
c.1350G>C (p.Met450Ile)
c.1527G>C (p.Met509Ile)
c.1521G>C (p.Met507Ile)
c.1062G>C (p.Met354Ile)
c.591G>C (p.Met197Ile)
n.2023G>C
n.2190G>C
c.1938G>C (p.Met646Ile)
c.630G>C (p.Met210Ile)
n.2240G>C
n.2213G>C
8g.141168344G>TCA372344200DENND3c.2094G>T (p.Met698Ile)
c.1854G>T (p.Met618Ile)
c.1698G>T (p.Met566Ile)
c.1867G>T
n.1635G>T
c.1893G>T (p.Met631Ile)
c.1737G>T (p.Met579Ile)
c.1860G>T (p.Met620Ile)
c.1350G>T (p.Met450Ile)
c.1527G>T (p.Met509Ile)
c.1521G>T (p.Met507Ile)
c.1062G>T (p.Met354Ile)
c.591G>T (p.Met197Ile)
n.2023G>T
n.2190G>T
c.1938G>T (p.Met646Ile)
c.630G>T (p.Met210Ile)
n.2240G>T
n.2213G>T
8g.141168347_141168359delCA2782479400DENND3c.2097_2109del (p.Leu700SerfsTer15)
c.1857_1869del (p.Leu620SerfsTer15)
c.1701_1713del (p.Leu568SerfsTer15)
c.1870_1882del
n.1638_1650del
c.1896_1908del (p.Leu633SerfsTer15)
c.1740_1752del (p.Leu581SerfsTer15)
c.1863_1875del (p.Leu622SerfsTer15)
c.1353_1365del (p.Leu452SerfsTer15)
c.1530_1542del (p.Leu511SerfsTer15)
c.1524_1536del (p.Leu509SerfsTer15)
c.1065_1077del (p.Leu356SerfsTer15)
c.594_606del (p.Leu199SerfsTer15)
n.2026_2038del
n.2193_2205del
c.1941_1953del (p.Leu648SerfsTer15)
c.633_645del (p.Leu212SerfsTer15)
n.2243_2255del
n.2216_2228del
8g.141168345A>CCA463496955DENND3c.2095A>C (p.Arg699=)
c.1855A>C (p.Arg619=)
c.1699A>C (p.Arg567=)
c.1868A>C
n.1636A>C
c.1894A>C (p.Arg632=)
c.1738A>C (p.Arg580=)
c.1861A>C (p.Arg621=)
c.1351A>C (p.Arg451=)
c.1528A>C (p.Arg510=)
c.1522A>C (p.Arg508=)
c.1063A>C (p.Arg355=)
c.592A>C (p.Arg198=)
n.2024A>C
n.2191A>C
c.1939A>C (p.Arg647=)
c.631A>C (p.Arg211=)
n.2241A>C
n.2214A>C
8g.141168345A>GCA372344203DENND3c.2095A>G (p.Arg699Gly)
c.1855A>G (p.Arg619Gly)
c.1699A>G (p.Arg567Gly)
c.1868A>G
n.1636A>G
c.1894A>G (p.Arg632Gly)
c.1738A>G (p.Arg580Gly)
c.1861A>G (p.Arg621Gly)
c.1351A>G (p.Arg451Gly)
c.1528A>G (p.Arg510Gly)
c.1522A>G (p.Arg508Gly)
c.1063A>G (p.Arg355Gly)
c.592A>G (p.Arg198Gly)
n.2024A>G
n.2191A>G
c.1939A>G (p.Arg647Gly)
c.631A>G (p.Arg211Gly)
n.2241A>G
n.2214A>G
8g.141168345A>TCA372344204DENND3c.2095A>T (p.Arg699Trp)
c.1855A>T (p.Arg619Trp)
c.1699A>T (p.Arg567Trp)
c.1868A>T
n.1636A>T
c.1894A>T (p.Arg632Trp)
c.1738A>T (p.Arg580Trp)
c.1861A>T (p.Arg621Trp)
c.1351A>T (p.Arg451Trp)
c.1528A>T (p.Arg510Trp)
c.1522A>T (p.Arg508Trp)
c.1063A>T (p.Arg355Trp)
c.592A>T (p.Arg198Trp)
n.2024A>T
n.2191A>T
c.1939A>T (p.Arg647Trp)
c.631A>T (p.Arg211Trp)
n.2241A>T
n.2214A>T
8g.141168346G>ACA4896804DENND3c.2096G>A (p.Arg699Lys)
c.1856G>A (p.Arg619Lys)
c.1700G>A (p.Arg567Lys)
c.1869G>A
n.1637G>A
c.1895G>A (p.Arg632Lys)
c.1739G>A (p.Arg580Lys)
c.1862G>A (p.Arg621Lys)
c.1352G>A (p.Arg451Lys)
c.1529G>A (p.Arg510Lys)
c.1523G>A (p.Arg508Lys)
c.1064G>A (p.Arg355Lys)
c.593G>A (p.Arg198Lys)
n.2025G>A
n.2192G>A
c.1940G>A (p.Arg647Lys)
c.632G>A (p.Arg211Lys)
n.2242G>A
n.2215G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168346G>CCA372344205DENND3c.2096G>C (p.Arg699Thr)
c.1856G>C (p.Arg619Thr)
c.1700G>C (p.Arg567Thr)
c.1869G>C
n.1637G>C
c.1895G>C (p.Arg632Thr)
c.1739G>C (p.Arg580Thr)
c.1862G>C (p.Arg621Thr)
c.1352G>C (p.Arg451Thr)
c.1529G>C (p.Arg510Thr)
c.1523G>C (p.Arg508Thr)
c.1064G>C (p.Arg355Thr)
c.593G>C (p.Arg198Thr)
n.2025G>C
n.2192G>C
c.1940G>C (p.Arg647Thr)
c.632G>C (p.Arg211Thr)
n.2242G>C
n.2215G>C
8g.141168346G>TCA372344206DENND3c.2096G>T (p.Arg699Met)
c.1856G>T (p.Arg619Met)
c.1700G>T (p.Arg567Met)
c.1869G>T
n.1637G>T
c.1895G>T (p.Arg632Met)
c.1739G>T (p.Arg580Met)
c.1862G>T (p.Arg621Met)
c.1352G>T (p.Arg451Met)
c.1529G>T (p.Arg510Met)
c.1523G>T (p.Arg508Met)
c.1064G>T (p.Arg355Met)
c.593G>T (p.Arg198Met)
n.2025G>T
n.2192G>T
c.1940G>T (p.Arg647Met)
c.632G>T (p.Arg211Met)
n.2242G>T
n.2215G>T
 dbSNP gnomAD v3 gnomAD v4
8g.141168347G>ACA463496956DENND3c.2097G>A (p.Arg699=)
c.1857G>A (p.Arg619=)
c.1701G>A (p.Arg567=)
c.1870G>A
n.1638G>A
c.1896G>A (p.Arg632=)
c.1740G>A (p.Arg580=)
c.1863G>A (p.Arg621=)
c.1353G>A (p.Arg451=)
c.1530G>A (p.Arg510=)
c.1524G>A (p.Arg508=)
c.1065G>A (p.Arg355=)
c.594G>A (p.Arg198=)
n.2026G>A
n.2193G>A
c.1941G>A (p.Arg647=)
c.633G>A (p.Arg211=)
n.2243G>A
n.2216G>A
8g.141168347G>CCA372344207DENND3c.2097G>C (p.Arg699Ser)
c.1857G>C (p.Arg619Ser)
c.1701G>C (p.Arg567Ser)
c.1870G>C
n.1638G>C
c.1896G>C (p.Arg632Ser)
c.1740G>C (p.Arg580Ser)
c.1863G>C (p.Arg621Ser)
c.1353G>C (p.Arg451Ser)
c.1530G>C (p.Arg510Ser)
c.1524G>C (p.Arg508Ser)
c.1065G>C (p.Arg355Ser)
c.594G>C (p.Arg198Ser)
n.2026G>C
n.2193G>C
c.1941G>C (p.Arg647Ser)
c.633G>C (p.Arg211Ser)
n.2243G>C
n.2216G>C
 gnomAD v4
8g.141168347G>TCA372344208DENND3c.2097G>T (p.Arg699Ser)
c.1857G>T (p.Arg619Ser)
c.1701G>T (p.Arg567Ser)
c.1870G>T
n.1638G>T
c.1896G>T (p.Arg632Ser)
c.1740G>T (p.Arg580Ser)
c.1863G>T (p.Arg621Ser)
c.1353G>T (p.Arg451Ser)
c.1530G>T (p.Arg510Ser)
c.1524G>T (p.Arg508Ser)
c.1065G>T (p.Arg355Ser)
c.594G>T (p.Arg198Ser)
n.2026G>T
n.2193G>T
c.1941G>T (p.Arg647Ser)
c.633G>T (p.Arg211Ser)
n.2243G>T
n.2216G>T
8g.141168348C>ACA4896805DENND3c.2098C>A (p.Leu700Ile)
c.1858C>A (p.Leu620Ile)
c.1702C>A (p.Leu568Ile)
c.1871C>A
n.1639C>A
c.1897C>A (p.Leu633Ile)
c.1741C>A (p.Leu581Ile)
c.1864C>A (p.Leu622Ile)
c.1354C>A (p.Leu452Ile)
c.1531C>A (p.Leu511Ile)
c.1525C>A (p.Leu509Ile)
c.1066C>A (p.Leu356Ile)
c.595C>A (p.Leu199Ile)
n.2027C>A
n.2194C>A
c.1942C>A (p.Leu648Ile)
c.634C>A (p.Leu212Ile)
n.2244C>A
n.2217C>A
 dbSNP ExAC gnomAD v2
8g.141168348C>GCA372344209DENND3c.2098C>G (p.Leu700Val)
c.1858C>G (p.Leu620Val)
c.1702C>G (p.Leu568Val)
c.1871C>G
n.1639C>G
c.1897C>G (p.Leu633Val)
c.1741C>G (p.Leu581Val)
c.1864C>G (p.Leu622Val)
c.1354C>G (p.Leu452Val)
c.1531C>G (p.Leu511Val)
c.1525C>G (p.Leu509Val)
c.1066C>G (p.Leu356Val)
c.595C>G (p.Leu199Val)
n.2027C>G
n.2194C>G
c.1942C>G (p.Leu648Val)
c.634C>G (p.Leu212Val)
n.2244C>G
n.2217C>G
 dbSNP
8g.141168348C>TCA187325774DENND3c.2098C>T (p.Leu700Phe)
c.1858C>T (p.Leu620Phe)
c.1702C>T (p.Leu568Phe)
c.1871C>T
n.1639C>T
c.1897C>T (p.Leu633Phe)
c.1741C>T (p.Leu581Phe)
c.1864C>T (p.Leu622Phe)
c.1354C>T (p.Leu452Phe)
c.1531C>T (p.Leu511Phe)
c.1525C>T (p.Leu509Phe)
c.1066C>T (p.Leu356Phe)
c.595C>T (p.Leu199Phe)
n.2027C>T
n.2194C>T
c.1942C>T (p.Leu648Phe)
c.634C>T (p.Leu212Phe)
n.2244C>T
n.2217C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.141168349T>ACA372344210DENND3c.2099T>A (p.Leu700His)
c.1859T>A (p.Leu620His)
c.1703T>A (p.Leu568His)
c.1872T>A
n.1640T>A
c.1898T>A (p.Leu633His)
c.1742T>A (p.Leu581His)
c.1865T>A (p.Leu622His)
c.1355T>A (p.Leu452His)
c.1532T>A (p.Leu511His)
c.1526T>A (p.Leu509His)
c.1067T>A (p.Leu356His)
c.596T>A (p.Leu199His)
n.2028T>A
n.2195T>A
c.1943T>A (p.Leu648His)
c.635T>A (p.Leu212His)
n.2245T>A
n.2218T>A
8g.141168349T>CCA372344211DENND3c.2099T>C (p.Leu700Pro)
c.1859T>C (p.Leu620Pro)
c.1703T>C (p.Leu568Pro)
c.1872T>C
n.1640T>C
c.1898T>C (p.Leu633Pro)
c.1742T>C (p.Leu581Pro)
c.1865T>C (p.Leu622Pro)
c.1355T>C (p.Leu452Pro)
c.1532T>C (p.Leu511Pro)
c.1526T>C (p.Leu509Pro)
c.1067T>C (p.Leu356Pro)
c.596T>C (p.Leu199Pro)
n.2028T>C
n.2195T>C
c.1943T>C (p.Leu648Pro)
c.635T>C (p.Leu212Pro)
n.2245T>C
n.2218T>C
8g.141168349T>GCA372344212DENND3c.2099T>G (p.Leu700Arg)
c.1859T>G (p.Leu620Arg)
c.1703T>G (p.Leu568Arg)
c.1872T>G
n.1640T>G
c.1898T>G (p.Leu633Arg)
c.1742T>G (p.Leu581Arg)
c.1865T>G (p.Leu622Arg)
c.1355T>G (p.Leu452Arg)
c.1532T>G (p.Leu511Arg)
c.1526T>G (p.Leu509Arg)
c.1067T>G (p.Leu356Arg)
c.596T>G (p.Leu199Arg)
n.2028T>G
n.2195T>G
c.1943T>G (p.Leu648Arg)
c.635T>G (p.Leu212Arg)
n.2245T>G
n.2218T>G
8g.141168350C>ACA463496957DENND3c.2100C>A (p.Leu700=)
c.1860C>A (p.Leu620=)
c.1704C>A (p.Leu568=)
c.1873C>A
n.1641C>A
c.1899C>A (p.Leu633=)
c.1743C>A (p.Leu581=)
c.1866C>A (p.Leu622=)
c.1356C>A (p.Leu452=)
c.1533C>A (p.Leu511=)
c.1527C>A (p.Leu509=)
c.1068C>A (p.Leu356=)
c.597C>A (p.Leu199=)
n.2029C>A
n.2196C>A
c.1944C>A (p.Leu648=)
c.636C>A (p.Leu212=)
n.2246C>A
n.2219C>A
8g.141168350C>GCA463496958DENND3c.2100C>G (p.Leu700=)
c.1860C>G (p.Leu620=)
c.1704C>G (p.Leu568=)
c.1873C>G
n.1641C>G
c.1899C>G (p.Leu633=)
c.1743C>G (p.Leu581=)
c.1866C>G (p.Leu622=)
c.1356C>G (p.Leu452=)
c.1533C>G (p.Leu511=)
c.1527C>G (p.Leu509=)
c.1068C>G (p.Leu356=)
c.597C>G (p.Leu199=)
n.2029C>G
n.2196C>G
c.1944C>G (p.Leu648=)
c.636C>G (p.Leu212=)
n.2246C>G
n.2219C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168350C>TCA463496959DENND3c.2100C>T (p.Leu700=)
c.1860C>T (p.Leu620=)
c.1704C>T (p.Leu568=)
c.1873C>T
n.1641C>T
c.1899C>T (p.Leu633=)
c.1743C>T (p.Leu581=)
c.1866C>T (p.Leu622=)
c.1356C>T (p.Leu452=)
c.1533C>T (p.Leu511=)
c.1527C>T (p.Leu509=)
c.1068C>T (p.Leu356=)
c.597C>T (p.Leu199=)
n.2029C>T
n.2196C>T
c.1944C>T (p.Leu648=)
c.636C>T (p.Leu212=)
n.2246C>T
n.2219C>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168351A>CCA372344215DENND3c.2101A>C (p.Ile701Leu)
c.1861A>C (p.Ile621Leu)
c.1705A>C (p.Ile569Leu)
c.1874A>C
n.1642A>C
c.1900A>C (p.Ile634Leu)
c.1744A>C (p.Ile582Leu)
c.1867A>C (p.Ile623Leu)
c.1357A>C (p.Ile453Leu)
c.1534A>C (p.Ile512Leu)
c.1528A>C (p.Ile510Leu)
c.1069A>C (p.Ile357Leu)
c.598A>C (p.Ile200Leu)
n.2030A>C
n.2197A>C
c.1945A>C (p.Ile649Leu)
c.637A>C (p.Ile213Leu)
n.2247A>C
n.2220A>C
8g.141168351A>GCA372344214DENND3c.2101A>G (p.Ile701Val)
c.1861A>G (p.Ile621Val)
c.1705A>G (p.Ile569Val)
c.1874A>G
n.1642A>G
c.1900A>G (p.Ile634Val)
c.1744A>G (p.Ile582Val)
c.1867A>G (p.Ile623Val)
c.1357A>G (p.Ile453Val)
c.1534A>G (p.Ile512Val)
c.1528A>G (p.Ile510Val)
c.1069A>G (p.Ile357Val)
c.598A>G (p.Ile200Val)
n.2030A>G
n.2197A>G
c.1945A>G (p.Ile649Val)
c.637A>G (p.Ile213Val)
n.2247A>G
n.2220A>G
8g.141168351A>TCA372344213DENND3c.2101A>T (p.Ile701Phe)
c.1861A>T (p.Ile621Phe)
c.1705A>T (p.Ile569Phe)
c.1874A>T
n.1642A>T
c.1900A>T (p.Ile634Phe)
c.1744A>T (p.Ile582Phe)
c.1867A>T (p.Ile623Phe)
c.1357A>T (p.Ile453Phe)
c.1534A>T (p.Ile512Phe)
c.1528A>T (p.Ile510Phe)
c.1069A>T (p.Ile357Phe)
c.598A>T (p.Ile200Phe)
n.2030A>T
n.2197A>T
c.1945A>T (p.Ile649Phe)
c.637A>T (p.Ile213Phe)
n.2247A>T
n.2220A>T
 gnomAD v4
8g.141168352T>ACA372344216DENND3c.2102T>A (p.Ile701Asn)
c.1862T>A (p.Ile621Asn)
c.1706T>A (p.Ile569Asn)
c.1875T>A
n.1643T>A
c.1901T>A (p.Ile634Asn)
c.1745T>A (p.Ile582Asn)
c.1868T>A (p.Ile623Asn)
c.1358T>A (p.Ile453Asn)
c.1535T>A (p.Ile512Asn)
c.1529T>A (p.Ile510Asn)
c.1070T>A (p.Ile357Asn)
c.599T>A (p.Ile200Asn)
n.2031T>A
n.2198T>A
c.1946T>A (p.Ile649Asn)
c.638T>A (p.Ile213Asn)
n.2248T>A
n.2221T>A
8g.141168352T>CCA372344217DENND3c.2102T>C (p.Ile701Thr)
c.1862T>C (p.Ile621Thr)
c.1706T>C (p.Ile569Thr)
c.1875T>C
n.1643T>C
c.1901T>C (p.Ile634Thr)
c.1745T>C (p.Ile582Thr)
c.1868T>C (p.Ile623Thr)
c.1358T>C (p.Ile453Thr)
c.1535T>C (p.Ile512Thr)
c.1529T>C (p.Ile510Thr)
c.1070T>C (p.Ile357Thr)
c.599T>C (p.Ile200Thr)
n.2031T>C
n.2198T>C
c.1946T>C (p.Ile649Thr)
c.638T>C (p.Ile213Thr)
n.2248T>C
n.2221T>C
8g.141168352T>GCA372344218DENND3c.2102T>G (p.Ile701Ser)
c.1862T>G (p.Ile621Ser)
c.1706T>G (p.Ile569Ser)
c.1875T>G
n.1643T>G
c.1901T>G (p.Ile634Ser)
c.1745T>G (p.Ile582Ser)
c.1868T>G (p.Ile623Ser)
c.1358T>G (p.Ile453Ser)
c.1535T>G (p.Ile512Ser)
c.1529T>G (p.Ile510Ser)
c.1070T>G (p.Ile357Ser)
c.599T>G (p.Ile200Ser)
n.2031T>G
n.2198T>G
c.1946T>G (p.Ile649Ser)
c.638T>G (p.Ile213Ser)
n.2248T>G
n.2221T>G
8g.141168353C>ACA463496960DENND3c.2103C>A (p.Ile701=)
c.1863C>A (p.Ile621=)
c.1707C>A (p.Ile569=)
c.1876C>A
n.1644C>A
c.1902C>A (p.Ile634=)
c.1746C>A (p.Ile582=)
c.1869C>A (p.Ile623=)
c.1359C>A (p.Ile453=)
c.1536C>A (p.Ile512=)
c.1530C>A (p.Ile510=)
c.1071C>A (p.Ile357=)
c.600C>A (p.Ile200=)
n.2032C>A
n.2199C>A
c.1947C>A (p.Ile649=)
c.639C>A (p.Ile213=)
n.2249C>A
n.2222C>A

Number of alleles fetched