Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168310A>CCA372344124DENND3c.2060A>C (p.Glu687Ala)
c.1820A>C (p.Glu607Ala)
c.1664A>C (p.Glu555Ala)
c.1833A>C
n.1601A>C
c.1859A>C (p.Glu620Ala)
c.1703A>C (p.Glu568Ala)
c.1826A>C (p.Glu609Ala)
c.1316A>C (p.Glu439Ala)
c.1493A>C (p.Glu498Ala)
c.1487A>C (p.Glu496Ala)
c.1028A>C (p.Glu343Ala)
c.557A>C (p.Glu186Ala)
n.1989A>C
n.2156A>C
c.1904A>C (p.Glu635Ala)
c.596A>C (p.Glu199Ala)
n.2206A>C
n.2179A>C
8g.141168310A>GCA372344123DENND3c.2060A>G (p.Glu687Gly)
c.1820A>G (p.Glu607Gly)
c.1664A>G (p.Glu555Gly)
c.1833A>G
n.1601A>G
c.1859A>G (p.Glu620Gly)
c.1703A>G (p.Glu568Gly)
c.1826A>G (p.Glu609Gly)
c.1316A>G (p.Glu439Gly)
c.1493A>G (p.Glu498Gly)
c.1487A>G (p.Glu496Gly)
c.1028A>G (p.Glu343Gly)
c.557A>G (p.Glu186Gly)
n.1989A>G
n.2156A>G
c.1904A>G (p.Glu635Gly)
c.596A>G (p.Glu199Gly)
n.2206A>G
n.2179A>G
8g.141168310A>TCA372344122DENND3c.2060A>T (p.Glu687Val)
c.1820A>T (p.Glu607Val)
c.1664A>T (p.Glu555Val)
c.1833A>T
n.1601A>T
c.1859A>T (p.Glu620Val)
c.1703A>T (p.Glu568Val)
c.1826A>T (p.Glu609Val)
c.1316A>T (p.Glu439Val)
c.1493A>T (p.Glu498Val)
c.1487A>T (p.Glu496Val)
c.1028A>T (p.Glu343Val)
c.557A>T (p.Glu186Val)
n.1989A>T
n.2156A>T
c.1904A>T (p.Glu635Val)
c.596A>T (p.Glu199Val)
n.2206A>T
n.2179A>T
8g.141168311G>ACA463493966DENND3c.2061G>A (p.Glu687=)
c.1821G>A (p.Glu607=)
c.1665G>A (p.Glu555=)
c.1834G>A
n.1602G>A
c.1860G>A (p.Glu620=)
c.1704G>A (p.Glu568=)
c.1827G>A (p.Glu609=)
c.1317G>A (p.Glu439=)
c.1494G>A (p.Glu498=)
c.1488G>A (p.Glu496=)
c.1029G>A (p.Glu343=)
c.558G>A (p.Glu186=)
n.1990G>A
n.2157G>A
c.1905G>A (p.Glu635=)
c.597G>A (p.Glu199=)
n.2207G>A
n.2180G>A
 gnomAD v4
8g.141168311G>CCA372344125DENND3c.2061G>C (p.Glu687Asp)
c.1821G>C (p.Glu607Asp)
c.1665G>C (p.Glu555Asp)
c.1834G>C
n.1602G>C
c.1860G>C (p.Glu620Asp)
c.1704G>C (p.Glu568Asp)
c.1827G>C (p.Glu609Asp)
c.1317G>C (p.Glu439Asp)
c.1494G>C (p.Glu498Asp)
c.1488G>C (p.Glu496Asp)
c.1029G>C (p.Glu343Asp)
c.558G>C (p.Glu186Asp)
n.1990G>C
n.2157G>C
c.1905G>C (p.Glu635Asp)
c.597G>C (p.Glu199Asp)
n.2207G>C
n.2180G>C
8g.141168311G>TCA372344126DENND3c.2061G>T (p.Glu687Asp)
c.1821G>T (p.Glu607Asp)
c.1665G>T (p.Glu555Asp)
c.1834G>T
n.1602G>T
c.1860G>T (p.Glu620Asp)
c.1704G>T (p.Glu568Asp)
c.1827G>T (p.Glu609Asp)
c.1317G>T (p.Glu439Asp)
c.1494G>T (p.Glu498Asp)
c.1488G>T (p.Glu496Asp)
c.1029G>T (p.Glu343Asp)
c.558G>T (p.Glu186Asp)
n.1990G>T
n.2157G>T
c.1905G>T (p.Glu635Asp)
c.597G>T (p.Glu199Asp)
n.2207G>T
n.2180G>T
8g.141168312T>ACA372344127DENND3c.2062T>A (p.Trp688Arg)
c.1822T>A (p.Trp608Arg)
c.1666T>A (p.Trp556Arg)
c.1835T>A
n.1603T>A
c.1861T>A (p.Trp621Arg)
c.1705T>A (p.Trp569Arg)
c.1828T>A (p.Trp610Arg)
c.1318T>A (p.Trp440Arg)
c.1495T>A (p.Trp499Arg)
c.1489T>A (p.Trp497Arg)
c.1030T>A (p.Trp344Arg)
c.559T>A (p.Trp187Arg)
n.1991T>A
n.2158T>A
c.1906T>A (p.Trp636Arg)
c.598T>A (p.Trp200Arg)
n.2208T>A
n.2181T>A
8g.141168312T>CCA372344128DENND3c.2062T>C (p.Trp688Arg)
c.1822T>C (p.Trp608Arg)
c.1666T>C (p.Trp556Arg)
c.1835T>C
n.1603T>C
c.1861T>C (p.Trp621Arg)
c.1705T>C (p.Trp569Arg)
c.1828T>C (p.Trp610Arg)
c.1318T>C (p.Trp440Arg)
c.1495T>C (p.Trp499Arg)
c.1489T>C (p.Trp497Arg)
c.1030T>C (p.Trp344Arg)
c.559T>C (p.Trp187Arg)
n.1991T>C
n.2158T>C
c.1906T>C (p.Trp636Arg)
c.598T>C (p.Trp200Arg)
n.2208T>C
n.2181T>C
8g.141168312T>GCA372344129DENND3c.2062T>G (p.Trp688Gly)
c.1822T>G (p.Trp608Gly)
c.1666T>G (p.Trp556Gly)
c.1835T>G
n.1603T>G
c.1861T>G (p.Trp621Gly)
c.1705T>G (p.Trp569Gly)
c.1828T>G (p.Trp610Gly)
c.1318T>G (p.Trp440Gly)
c.1495T>G (p.Trp499Gly)
c.1489T>G (p.Trp497Gly)
c.1030T>G (p.Trp344Gly)
c.559T>G (p.Trp187Gly)
n.1991T>G
n.2158T>G
c.1906T>G (p.Trp636Gly)
c.598T>G (p.Trp200Gly)
n.2208T>G
n.2181T>G
8g.141168313G>ACA372344130DENND3c.2063G>A (p.Trp688Ter)
c.1823G>A (p.Trp608Ter)
c.1667G>A (p.Trp556Ter)
c.1836G>A
n.1604G>A
c.1862G>A (p.Trp621Ter)
c.1706G>A (p.Trp569Ter)
c.1829G>A (p.Trp610Ter)
c.1319G>A (p.Trp440Ter)
c.1496G>A (p.Trp499Ter)
c.1490G>A (p.Trp497Ter)
c.1031G>A (p.Trp344Ter)
c.560G>A (p.Trp187Ter)
n.1992G>A
n.2159G>A
c.1907G>A (p.Trp636Ter)
c.599G>A (p.Trp200Ter)
n.2209G>A
n.2182G>A
8g.141168313G>CCA372344131DENND3c.2063G>C (p.Trp688Ser)
c.1823G>C (p.Trp608Ser)
c.1667G>C (p.Trp556Ser)
c.1836G>C
n.1604G>C
c.1862G>C (p.Trp621Ser)
c.1706G>C (p.Trp569Ser)
c.1829G>C (p.Trp610Ser)
c.1319G>C (p.Trp440Ser)
c.1496G>C (p.Trp499Ser)
c.1490G>C (p.Trp497Ser)
c.1031G>C (p.Trp344Ser)
c.560G>C (p.Trp187Ser)
n.1992G>C
n.2159G>C
c.1907G>C (p.Trp636Ser)
c.599G>C (p.Trp200Ser)
n.2209G>C
n.2182G>C
8g.141168313G>TCA372344132DENND3c.2063G>T (p.Trp688Leu)
c.1823G>T (p.Trp608Leu)
c.1667G>T (p.Trp556Leu)
c.1836G>T
n.1604G>T
c.1862G>T (p.Trp621Leu)
c.1706G>T (p.Trp569Leu)
c.1829G>T (p.Trp610Leu)
c.1319G>T (p.Trp440Leu)
c.1496G>T (p.Trp499Leu)
c.1490G>T (p.Trp497Leu)
c.1031G>T (p.Trp344Leu)
c.560G>T (p.Trp187Leu)
n.1992G>T
n.2159G>T
c.1907G>T (p.Trp636Leu)
c.599G>T (p.Trp200Leu)
n.2209G>T
n.2182G>T
8g.141168314G>ACA372344133DENND3c.2064G>A (p.Trp688Ter)
c.1824G>A (p.Trp608Ter)
c.1668G>A (p.Trp556Ter)
c.1837G>A
n.1605G>A
c.1863G>A (p.Trp621Ter)
c.1707G>A (p.Trp569Ter)
c.1830G>A (p.Trp610Ter)
c.1320G>A (p.Trp440Ter)
c.1497G>A (p.Trp499Ter)
c.1491G>A (p.Trp497Ter)
c.1032G>A (p.Trp344Ter)
c.561G>A (p.Trp187Ter)
n.1993G>A
n.2160G>A
c.1908G>A (p.Trp636Ter)
c.600G>A (p.Trp200Ter)
n.2210G>A
n.2183G>A
8g.141168314G>CCA372344134DENND3c.2064G>C (p.Trp688Cys)
c.1824G>C (p.Trp608Cys)
c.1668G>C (p.Trp556Cys)
c.1837G>C
n.1605G>C
c.1863G>C (p.Trp621Cys)
c.1707G>C (p.Trp569Cys)
c.1830G>C (p.Trp610Cys)
c.1320G>C (p.Trp440Cys)
c.1497G>C (p.Trp499Cys)
c.1491G>C (p.Trp497Cys)
c.1032G>C (p.Trp344Cys)
c.561G>C (p.Trp187Cys)
n.1993G>C
n.2160G>C
c.1908G>C (p.Trp636Cys)
c.600G>C (p.Trp200Cys)
n.2210G>C
n.2183G>C
8g.141168314G>TCA372344135DENND3c.2064G>T (p.Trp688Cys)
c.1824G>T (p.Trp608Cys)
c.1668G>T (p.Trp556Cys)
c.1837G>T
n.1605G>T
c.1863G>T (p.Trp621Cys)
c.1707G>T (p.Trp569Cys)
c.1830G>T (p.Trp610Cys)
c.1320G>T (p.Trp440Cys)
c.1497G>T (p.Trp499Cys)
c.1491G>T (p.Trp497Cys)
c.1032G>T (p.Trp344Cys)
c.561G>T (p.Trp187Cys)
n.1993G>T
n.2160G>T
c.1908G>T (p.Trp636Cys)
c.600G>T (p.Trp200Cys)
n.2210G>T
n.2183G>T
8g.141168315G>ACA372344136DENND3c.2065G>A (p.Glu689Lys)
c.1825G>A (p.Glu609Lys)
c.1669G>A (p.Glu557Lys)
c.1838G>A
n.1606G>A
c.1864G>A (p.Glu622Lys)
c.1708G>A (p.Glu570Lys)
c.1831G>A (p.Glu611Lys)
c.1321G>A (p.Glu441Lys)
c.1498G>A (p.Glu500Lys)
c.1492G>A (p.Glu498Lys)
c.1033G>A (p.Glu345Lys)
c.562G>A (p.Glu188Lys)
n.1994G>A
n.2161G>A
c.1909G>A (p.Glu637Lys)
c.601G>A (p.Glu201Lys)
n.2211G>A
n.2184G>A
8g.141168315G>CCA372344137DENND3c.2065G>C (p.Glu689Gln)
c.1825G>C (p.Glu609Gln)
c.1669G>C (p.Glu557Gln)
c.1838G>C
n.1606G>C
c.1864G>C (p.Glu622Gln)
c.1708G>C (p.Glu570Gln)
c.1831G>C (p.Glu611Gln)
c.1321G>C (p.Glu441Gln)
c.1498G>C (p.Glu500Gln)
c.1492G>C (p.Glu498Gln)
c.1033G>C (p.Glu345Gln)
c.562G>C (p.Glu188Gln)
n.1994G>C
n.2161G>C
c.1909G>C (p.Glu637Gln)
c.601G>C (p.Glu201Gln)
n.2211G>C
n.2184G>C
 gnomAD v4
8g.141168315G>TCA372344138DENND3c.2065G>T (p.Glu689Ter)
c.1825G>T (p.Glu609Ter)
c.1669G>T (p.Glu557Ter)
c.1838G>T
n.1606G>T
c.1864G>T (p.Glu622Ter)
c.1708G>T (p.Glu570Ter)
c.1831G>T (p.Glu611Ter)
c.1321G>T (p.Glu441Ter)
c.1498G>T (p.Glu500Ter)
c.1492G>T (p.Glu498Ter)
c.1033G>T (p.Glu345Ter)
c.562G>T (p.Glu188Ter)
n.1994G>T
n.2161G>T
c.1909G>T (p.Glu637Ter)
c.601G>T (p.Glu201Ter)
n.2211G>T
n.2184G>T
8g.141168316A>CCA372344140DENND3c.2066A>C (p.Glu689Ala)
c.1826A>C (p.Glu609Ala)
c.1670A>C (p.Glu557Ala)
c.1839A>C
n.1607A>C
c.1865A>C (p.Glu622Ala)
c.1709A>C (p.Glu570Ala)
c.1832A>C (p.Glu611Ala)
c.1322A>C (p.Glu441Ala)
c.1499A>C (p.Glu500Ala)
c.1493A>C (p.Glu498Ala)
c.1034A>C (p.Glu345Ala)
c.563A>C (p.Glu188Ala)
n.1995A>C
n.2162A>C
c.1910A>C (p.Glu637Ala)
c.602A>C (p.Glu201Ala)
n.2212A>C
n.2185A>C
8g.141168316A>GCA372344141DENND3c.2066A>G (p.Glu689Gly)
c.1826A>G (p.Glu609Gly)
c.1670A>G (p.Glu557Gly)
c.1839A>G
n.1607A>G
c.1865A>G (p.Glu622Gly)
c.1709A>G (p.Glu570Gly)
c.1832A>G (p.Glu611Gly)
c.1322A>G (p.Glu441Gly)
c.1499A>G (p.Glu500Gly)
c.1493A>G (p.Glu498Gly)
c.1034A>G (p.Glu345Gly)
c.563A>G (p.Glu188Gly)
n.1995A>G
n.2162A>G
c.1910A>G (p.Glu637Gly)
c.602A>G (p.Glu201Gly)
n.2212A>G
n.2185A>G
 dbSNP
8g.141168316A>TCA372344139DENND3c.2066A>T (p.Glu689Val)
c.1826A>T (p.Glu609Val)
c.1670A>T (p.Glu557Val)
c.1839A>T
n.1607A>T
c.1865A>T (p.Glu622Val)
c.1709A>T (p.Glu570Val)
c.1832A>T (p.Glu611Val)
c.1322A>T (p.Glu441Val)
c.1499A>T (p.Glu500Val)
c.1493A>T (p.Glu498Val)
c.1034A>T (p.Glu345Val)
c.563A>T (p.Glu188Val)
n.1995A>T
n.2162A>T
c.1910A>T (p.Glu637Val)
c.602A>T (p.Glu201Val)
n.2212A>T
n.2185A>T
8g.141168317G>ACA463496938DENND3c.2067G>A (p.Glu689=)
c.1827G>A (p.Glu609=)
c.1671G>A (p.Glu557=)
c.1840G>A
n.1608G>A
c.1866G>A (p.Glu622=)
c.1710G>A (p.Glu570=)
c.1833G>A (p.Glu611=)
c.1323G>A (p.Glu441=)
c.1500G>A (p.Glu500=)
c.1494G>A (p.Glu498=)
c.1035G>A (p.Glu345=)
c.564G>A (p.Glu188=)
n.1996G>A
n.2163G>A
c.1911G>A (p.Glu637=)
c.603G>A (p.Glu201=)
n.2213G>A
n.2186G>A
 gnomAD v4
8g.141168317G>CCA372344142DENND3c.2067G>C (p.Glu689Asp)
c.1827G>C (p.Glu609Asp)
c.1671G>C (p.Glu557Asp)
c.1840G>C
n.1608G>C
c.1866G>C (p.Glu622Asp)
c.1710G>C (p.Glu570Asp)
c.1833G>C (p.Glu611Asp)
c.1323G>C (p.Glu441Asp)
c.1500G>C (p.Glu500Asp)
c.1494G>C (p.Glu498Asp)
c.1035G>C (p.Glu345Asp)
c.564G>C (p.Glu188Asp)
n.1996G>C
n.2163G>C
c.1911G>C (p.Glu637Asp)
c.603G>C (p.Glu201Asp)
n.2213G>C
n.2186G>C
8g.141168317G>TCA372344143DENND3c.2067G>T (p.Glu689Asp)
c.1827G>T (p.Glu609Asp)
c.1671G>T (p.Glu557Asp)
c.1840G>T
n.1608G>T
c.1866G>T (p.Glu622Asp)
c.1710G>T (p.Glu570Asp)
c.1833G>T (p.Glu611Asp)
c.1323G>T (p.Glu441Asp)
c.1500G>T (p.Glu500Asp)
c.1494G>T (p.Glu498Asp)
c.1035G>T (p.Glu345Asp)
c.564G>T (p.Glu188Asp)
n.1996G>T
n.2163G>T
c.1911G>T (p.Glu637Asp)
c.603G>T (p.Glu201Asp)
n.2213G>T
n.2186G>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168321delCA2688780327DENND3c.2071del (p.Ala691LeufsTer7)
c.1831del (p.Ala611LeufsTer7)
c.1675del (p.Ala559LeufsTer7)
c.1844del
n.1612del
c.1870del (p.Ala624LeufsTer7)
c.1714del (p.Ala572LeufsTer7)
c.1837del (p.Ala613LeufsTer7)
c.1327del (p.Ala443LeufsTer7)
c.1504del (p.Ala502LeufsTer7)
c.1498del (p.Ala500LeufsTer7)
c.1039del (p.Ala347LeufsTer7)
c.568del (p.Ala190LeufsTer7)
n.2000del
n.2167del
c.1915del (p.Ala639LeufsTer7)
c.607del (p.Ala203LeufsTer7)
n.2217del
n.2190del
 gnomAD v4
8g.141168318G>ACA4896800DENND3c.2068G>A (p.Gly690Arg)
c.1828G>A (p.Gly610Arg)
c.1672G>A (p.Gly558Arg)
c.1841G>A
n.1609G>A
c.1867G>A (p.Gly623Arg)
c.1711G>A (p.Gly571Arg)
c.1834G>A (p.Gly612Arg)
c.1324G>A (p.Gly442Arg)
c.1501G>A (p.Gly501Arg)
c.1495G>A (p.Gly499Arg)
c.1036G>A (p.Gly346Arg)
c.565G>A (p.Gly189Arg)
n.1997G>A
n.2164G>A
c.1912G>A (p.Gly638Arg)
c.604G>A (p.Gly202Arg)
n.2214G>A
n.2187G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168318G>CCA372344144DENND3c.2068G>C (p.Gly690Arg)
c.1828G>C (p.Gly610Arg)
c.1672G>C (p.Gly558Arg)
c.1841G>C
n.1609G>C
c.1867G>C (p.Gly623Arg)
c.1711G>C (p.Gly571Arg)
c.1834G>C (p.Gly612Arg)
c.1324G>C (p.Gly442Arg)
c.1501G>C (p.Gly501Arg)
c.1495G>C (p.Gly499Arg)
c.1036G>C (p.Gly346Arg)
c.565G>C (p.Gly189Arg)
n.1997G>C
n.2164G>C
c.1912G>C (p.Gly638Arg)
c.604G>C (p.Gly202Arg)
n.2214G>C
n.2187G>C
 dbSNP
8g.141168318G>TCA372344145DENND3c.2068G>T (p.Gly690Trp)
c.1828G>T (p.Gly610Trp)
c.1672G>T (p.Gly558Trp)
c.1841G>T
n.1609G>T
c.1867G>T (p.Gly623Trp)
c.1711G>T (p.Gly571Trp)
c.1834G>T (p.Gly612Trp)
c.1324G>T (p.Gly442Trp)
c.1501G>T (p.Gly501Trp)
c.1495G>T (p.Gly499Trp)
c.1036G>T (p.Gly346Trp)
c.565G>T (p.Gly189Trp)
n.1997G>T
n.2164G>T
c.1912G>T (p.Gly638Trp)
c.604G>T (p.Gly202Trp)
n.2214G>T
n.2187G>T
8g.141168320_141168336dupCA2579262222DENND3c.2070_2086dup (p.Glu696GlyfsTer8)
c.1830_1846dup (p.Glu616GlyfsTer8)
c.1674_1690dup (p.Glu564GlyfsTer8)
c.1843_1859dup
n.1611_1627dup
c.1869_1885dup (p.Glu629GlyfsTer8)
c.1713_1729dup (p.Glu577GlyfsTer8)
c.1836_1852dup (p.Glu618GlyfsTer8)
c.1326_1342dup (p.Glu448GlyfsTer8)
c.1503_1519dup (p.Glu507GlyfsTer8)
c.1497_1513dup (p.Glu505GlyfsTer8)
c.1038_1054dup (p.Glu352GlyfsTer8)
c.567_583dup (p.Glu195GlyfsTer8)
n.1999_2015dup
n.2166_2182dup
c.1914_1930dup (p.Glu644GlyfsTer8)
c.606_622dup (p.Glu208GlyfsTer8)
n.2216_2232dup
n.2189_2205dup
 gnomAD v4
8g.141168319G>ACA372344148DENND3c.2069G>A (p.Gly690Glu)
c.1829G>A (p.Gly610Glu)
c.1673G>A (p.Gly558Glu)
c.1842G>A
n.1610G>A
c.1868G>A (p.Gly623Glu)
c.1712G>A (p.Gly571Glu)
c.1835G>A (p.Gly612Glu)
c.1325G>A (p.Gly442Glu)
c.1502G>A (p.Gly501Glu)
c.1496G>A (p.Gly499Glu)
c.1037G>A (p.Gly346Glu)
c.566G>A (p.Gly189Glu)
n.1998G>A
n.2165G>A
c.1913G>A (p.Gly638Glu)
c.605G>A (p.Gly202Glu)
n.2215G>A
n.2188G>A
 dbSNP gnomAD v2 gnomAD v4
8g.141168319G>CCA372344147DENND3c.2069G>C (p.Gly690Ala)
c.1829G>C (p.Gly610Ala)
c.1673G>C (p.Gly558Ala)
c.1842G>C
n.1610G>C
c.1868G>C (p.Gly623Ala)
c.1712G>C (p.Gly571Ala)
c.1835G>C (p.Gly612Ala)
c.1325G>C (p.Gly442Ala)
c.1502G>C (p.Gly501Ala)
c.1496G>C (p.Gly499Ala)
c.1037G>C (p.Gly346Ala)
c.566G>C (p.Gly189Ala)
n.1998G>C
n.2165G>C
c.1913G>C (p.Gly638Ala)
c.605G>C (p.Gly202Ala)
n.2215G>C
n.2188G>C
8g.141168319G>TCA372344146DENND3c.2069G>T (p.Gly690Val)
c.1829G>T (p.Gly610Val)
c.1673G>T (p.Gly558Val)
c.1842G>T
n.1610G>T
c.1868G>T (p.Gly623Val)
c.1712G>T (p.Gly571Val)
c.1835G>T (p.Gly612Val)
c.1325G>T (p.Gly442Val)
c.1502G>T (p.Gly501Val)
c.1496G>T (p.Gly499Val)
c.1037G>T (p.Gly346Val)
c.566G>T (p.Gly189Val)
n.1998G>T
n.2165G>T
c.1913G>T (p.Gly638Val)
c.605G>T (p.Gly202Val)
n.2215G>T
n.2188G>T
8g.141168320G>ACA463496939DENND3c.2070G>A (p.Gly690=)
c.1830G>A (p.Gly610=)
c.1674G>A (p.Gly558=)
c.1843G>A
n.1611G>A
c.1869G>A (p.Gly623=)
c.1713G>A (p.Gly571=)
c.1836G>A (p.Gly612=)
c.1326G>A (p.Gly442=)
c.1503G>A (p.Gly501=)
c.1497G>A (p.Gly499=)
c.1038G>A (p.Gly346=)
c.567G>A (p.Gly189=)
n.1999G>A
n.2166G>A
c.1914G>A (p.Gly638=)
c.606G>A (p.Gly202=)
n.2216G>A
n.2189G>A
8g.141168320G>CCA463496940DENND3c.2070G>C (p.Gly690=)
c.1830G>C (p.Gly610=)
c.1674G>C (p.Gly558=)
c.1843G>C
n.1611G>C
c.1869G>C (p.Gly623=)
c.1713G>C (p.Gly571=)
c.1836G>C (p.Gly612=)
c.1326G>C (p.Gly442=)
c.1503G>C (p.Gly501=)
c.1497G>C (p.Gly499=)
c.1038G>C (p.Gly346=)
c.567G>C (p.Gly189=)
n.1999G>C
n.2166G>C
c.1914G>C (p.Gly638=)
c.606G>C (p.Gly202=)
n.2216G>C
n.2189G>C
8g.141168320G>TCA463496941DENND3c.2070G>T (p.Gly690=)
c.1830G>T (p.Gly610=)
c.1674G>T (p.Gly558=)
c.1843G>T
n.1611G>T
c.1869G>T (p.Gly623=)
c.1713G>T (p.Gly571=)
c.1836G>T (p.Gly612=)
c.1326G>T (p.Gly442=)
c.1503G>T (p.Gly501=)
c.1497G>T (p.Gly499=)
c.1038G>T (p.Gly346=)
c.567G>T (p.Gly189=)
n.1999G>T
n.2166G>T
c.1914G>T (p.Gly638=)
c.606G>T (p.Gly202=)
n.2216G>T
n.2189G>T
8g.141168321G>ACA372344149DENND3c.2071G>A (p.Ala691Thr)
c.1831G>A (p.Ala611Thr)
c.1675G>A (p.Ala559Thr)
c.1844G>A
n.1612G>A
c.1870G>A (p.Ala624Thr)
c.1714G>A (p.Ala572Thr)
c.1837G>A (p.Ala613Thr)
c.1327G>A (p.Ala443Thr)
c.1504G>A (p.Ala502Thr)
c.1498G>A (p.Ala500Thr)
c.1039G>A (p.Ala347Thr)
c.568G>A (p.Ala190Thr)
n.2000G>A
n.2167G>A
c.1915G>A (p.Ala639Thr)
c.607G>A (p.Ala203Thr)
n.2217G>A
n.2190G>A
 dbSNP
8g.141168321G>CCA372344150DENND3c.2071G>C (p.Ala691Pro)
c.1831G>C (p.Ala611Pro)
c.1675G>C (p.Ala559Pro)
c.1844G>C
n.1612G>C
c.1870G>C (p.Ala624Pro)
c.1714G>C (p.Ala572Pro)
c.1837G>C (p.Ala613Pro)
c.1327G>C (p.Ala443Pro)
c.1504G>C (p.Ala502Pro)
c.1498G>C (p.Ala500Pro)
c.1039G>C (p.Ala347Pro)
c.568G>C (p.Ala190Pro)
n.2000G>C
n.2167G>C
c.1915G>C (p.Ala639Pro)
c.607G>C (p.Ala203Pro)
n.2217G>C
n.2190G>C
8g.141168321G>TCA372344151DENND3c.2071G>T (p.Ala691Ser)
c.1831G>T (p.Ala611Ser)
c.1675G>T (p.Ala559Ser)
c.1844G>T
n.1612G>T
c.1870G>T (p.Ala624Ser)
c.1714G>T (p.Ala572Ser)
c.1837G>T (p.Ala613Ser)
c.1327G>T (p.Ala443Ser)
c.1504G>T (p.Ala502Ser)
c.1498G>T (p.Ala500Ser)
c.1039G>T (p.Ala347Ser)
c.568G>T (p.Ala190Ser)
n.2000G>T
n.2167G>T
c.1915G>T (p.Ala639Ser)
c.607G>T (p.Ala203Ser)
n.2217G>T
n.2190G>T
8g.141168322C>ACA372344152DENND3c.2072C>A (p.Ala691Asp)
c.1832C>A (p.Ala611Asp)
c.1676C>A (p.Ala559Asp)
c.1845C>A
n.1613C>A
c.1871C>A (p.Ala624Asp)
c.1715C>A (p.Ala572Asp)
c.1838C>A (p.Ala613Asp)
c.1328C>A (p.Ala443Asp)
c.1505C>A (p.Ala502Asp)
c.1499C>A (p.Ala500Asp)
c.1040C>A (p.Ala347Asp)
c.569C>A (p.Ala190Asp)
n.2001C>A
n.2168C>A
c.1916C>A (p.Ala639Asp)
c.608C>A (p.Ala203Asp)
n.2218C>A
n.2191C>A
8g.141168322C>GCA372344153DENND3c.2072C>G (p.Ala691Gly)
c.1832C>G (p.Ala611Gly)
c.1676C>G (p.Ala559Gly)
c.1845C>G
n.1613C>G
c.1871C>G (p.Ala624Gly)
c.1715C>G (p.Ala572Gly)
c.1838C>G (p.Ala613Gly)
c.1328C>G (p.Ala443Gly)
c.1505C>G (p.Ala502Gly)
c.1499C>G (p.Ala500Gly)
c.1040C>G (p.Ala347Gly)
c.569C>G (p.Ala190Gly)
n.2001C>G
n.2168C>G
c.1916C>G (p.Ala639Gly)
c.608C>G (p.Ala203Gly)
n.2218C>G
n.2191C>G
8g.141168322C>TCA372344154DENND3c.2072C>T (p.Ala691Val)
c.1832C>T (p.Ala611Val)
c.1676C>T (p.Ala559Val)
c.1845C>T
n.1613C>T
c.1871C>T (p.Ala624Val)
c.1715C>T (p.Ala572Val)
c.1838C>T (p.Ala613Val)
c.1328C>T (p.Ala443Val)
c.1505C>T (p.Ala502Val)
c.1499C>T (p.Ala500Val)
c.1040C>T (p.Ala347Val)
c.569C>T (p.Ala190Val)
n.2001C>T
n.2168C>T
c.1916C>T (p.Ala639Val)
c.608C>T (p.Ala203Val)
n.2218C>T
n.2191C>T
8g.141168323T>ACA463496942DENND3c.2073T>A (p.Ala691=)
c.1833T>A (p.Ala611=)
c.1677T>A (p.Ala559=)
c.1846T>A
n.1614T>A
c.1872T>A (p.Ala624=)
c.1716T>A (p.Ala572=)
c.1839T>A (p.Ala613=)
c.1329T>A (p.Ala443=)
c.1506T>A (p.Ala502=)
c.1500T>A (p.Ala500=)
c.1041T>A (p.Ala347=)
c.570T>A (p.Ala190=)
n.2002T>A
n.2169T>A
c.1917T>A (p.Ala639=)
c.609T>A (p.Ala203=)
n.2219T>A
n.2192T>A
8g.141168323T>CCA463496943DENND3c.2073T>C (p.Ala691=)
c.1833T>C (p.Ala611=)
c.1677T>C (p.Ala559=)
c.1846T>C
n.1614T>C
c.1872T>C (p.Ala624=)
c.1716T>C (p.Ala572=)
c.1839T>C (p.Ala613=)
c.1329T>C (p.Ala443=)
c.1506T>C (p.Ala502=)
c.1500T>C (p.Ala500=)
c.1041T>C (p.Ala347=)
c.570T>C (p.Ala190=)
n.2002T>C
n.2169T>C
c.1917T>C (p.Ala639=)
c.609T>C (p.Ala203=)
n.2219T>C
n.2192T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168323T>GCA463496944DENND3c.2073T>G (p.Ala691=)
c.1833T>G (p.Ala611=)
c.1677T>G (p.Ala559=)
c.1846T>G
n.1614T>G
c.1872T>G (p.Ala624=)
c.1716T>G (p.Ala572=)
c.1839T>G (p.Ala613=)
c.1329T>G (p.Ala443=)
c.1506T>G (p.Ala502=)
c.1500T>G (p.Ala500=)
c.1041T>G (p.Ala347=)
c.570T>G (p.Ala190=)
n.2002T>G
n.2169T>G
c.1917T>G (p.Ala639=)
c.609T>G (p.Ala203=)
n.2219T>G
n.2192T>G
8g.141168324G>ACA372344157DENND3c.2074G>A (p.Glu692Lys)
c.1834G>A (p.Glu612Lys)
c.1678G>A (p.Glu560Lys)
c.1847G>A
n.1615G>A
c.1873G>A (p.Glu625Lys)
c.1717G>A (p.Glu573Lys)
c.1840G>A (p.Glu614Lys)
c.1330G>A (p.Glu444Lys)
c.1507G>A (p.Glu503Lys)
c.1501G>A (p.Glu501Lys)
c.1042G>A (p.Glu348Lys)
c.571G>A (p.Glu191Lys)
n.2003G>A
n.2170G>A
c.1918G>A (p.Glu640Lys)
c.610G>A (p.Glu204Lys)
n.2220G>A
n.2193G>A
 gnomAD v4
8g.141168324G>CCA372344155DENND3c.2074G>C (p.Glu692Gln)
c.1834G>C (p.Glu612Gln)
c.1678G>C (p.Glu560Gln)
c.1847G>C
n.1615G>C
c.1873G>C (p.Glu625Gln)
c.1717G>C (p.Glu573Gln)
c.1840G>C (p.Glu614Gln)
c.1330G>C (p.Glu444Gln)
c.1507G>C (p.Glu503Gln)
c.1501G>C (p.Glu501Gln)
c.1042G>C (p.Glu348Gln)
c.571G>C (p.Glu191Gln)
n.2003G>C
n.2170G>C
c.1918G>C (p.Glu640Gln)
c.610G>C (p.Glu204Gln)
n.2220G>C
n.2193G>C
8g.141168324G>TCA372344156DENND3c.2074G>T (p.Glu692Ter)
c.1834G>T (p.Glu612Ter)
c.1678G>T (p.Glu560Ter)
c.1847G>T
n.1615G>T
c.1873G>T (p.Glu625Ter)
c.1717G>T (p.Glu573Ter)
c.1840G>T (p.Glu614Ter)
c.1330G>T (p.Glu444Ter)
c.1507G>T (p.Glu503Ter)
c.1501G>T (p.Glu501Ter)
c.1042G>T (p.Glu348Ter)
c.571G>T (p.Glu191Ter)
n.2003G>T
n.2170G>T
c.1918G>T (p.Glu640Ter)
c.610G>T (p.Glu204Ter)
n.2220G>T
n.2193G>T
 COSMIC
8g.141168325A>CCA372344158DENND3c.2075A>C (p.Glu692Ala)
c.1835A>C (p.Glu612Ala)
c.1679A>C (p.Glu560Ala)
c.1848A>C
n.1616A>C
c.1874A>C (p.Glu625Ala)
c.1718A>C (p.Glu573Ala)
c.1841A>C (p.Glu614Ala)
c.1331A>C (p.Glu444Ala)
c.1508A>C (p.Glu503Ala)
c.1502A>C (p.Glu501Ala)
c.1043A>C (p.Glu348Ala)
c.572A>C (p.Glu191Ala)
n.2004A>C
n.2171A>C
c.1919A>C (p.Glu640Ala)
c.611A>C (p.Glu204Ala)
n.2221A>C
n.2194A>C
8g.141168325A>GCA372344159DENND3c.2075A>G (p.Glu692Gly)
c.1835A>G (p.Glu612Gly)
c.1679A>G (p.Glu560Gly)
c.1848A>G
n.1616A>G
c.1874A>G (p.Glu625Gly)
c.1718A>G (p.Glu573Gly)
c.1841A>G (p.Glu614Gly)
c.1331A>G (p.Glu444Gly)
c.1508A>G (p.Glu503Gly)
c.1502A>G (p.Glu501Gly)
c.1043A>G (p.Glu348Gly)
c.572A>G (p.Glu191Gly)
n.2004A>G
n.2171A>G
c.1919A>G (p.Glu640Gly)
c.611A>G (p.Glu204Gly)
n.2221A>G
n.2194A>G
8g.141168325A>TCA372344160DENND3c.2075A>T (p.Glu692Val)
c.1835A>T (p.Glu612Val)
c.1679A>T (p.Glu560Val)
c.1848A>T
n.1616A>T
c.1874A>T (p.Glu625Val)
c.1718A>T (p.Glu573Val)
c.1841A>T (p.Glu614Val)
c.1331A>T (p.Glu444Val)
c.1508A>T (p.Glu503Val)
c.1502A>T (p.Glu501Val)
c.1043A>T (p.Glu348Val)
c.572A>T (p.Glu191Val)
n.2004A>T
n.2171A>T
c.1919A>T (p.Glu640Val)
c.611A>T (p.Glu204Val)
n.2221A>T
n.2194A>T

Number of alleles fetched