Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168216G>ACA372343913DENND3c.1966G>A (p.Ala656Thr)
c.1726G>A (p.Ala576Thr)
c.1570G>A (p.Ala524Thr)
c.1739G>A
n.1507G>A
c.1765G>A (p.Ala589Thr)
c.1609G>A (p.Ala537Thr)
c.1732G>A (p.Ala578Thr)
c.1222G>A (p.Ala408Thr)
c.1399G>A (p.Ala467Thr)
c.1393G>A (p.Ala465Thr)
c.934G>A (p.Ala312Thr)
c.463G>A (p.Ala155Thr)
n.1895G>A
n.2062G>A
c.1810G>A (p.Ala604Thr)
c.502G>A (p.Ala168Thr)
n.2112G>A
n.2085G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.141168216G>CCA372343915DENND3c.1966G>C (p.Ala656Pro)
c.1726G>C (p.Ala576Pro)
c.1570G>C (p.Ala524Pro)
c.1739G>C
n.1507G>C
c.1765G>C (p.Ala589Pro)
c.1609G>C (p.Ala537Pro)
c.1732G>C (p.Ala578Pro)
c.1222G>C (p.Ala408Pro)
c.1399G>C (p.Ala467Pro)
c.1393G>C (p.Ala465Pro)
c.934G>C (p.Ala312Pro)
c.463G>C (p.Ala155Pro)
n.1895G>C
n.2062G>C
c.1810G>C (p.Ala604Pro)
c.502G>C (p.Ala168Pro)
n.2112G>C
n.2085G>C
8g.141168216G>TCA372343914DENND3c.1966G>T (p.Ala656Ser)
c.1726G>T (p.Ala576Ser)
c.1570G>T (p.Ala524Ser)
c.1739G>T
n.1507G>T
c.1765G>T (p.Ala589Ser)
c.1609G>T (p.Ala537Ser)
c.1732G>T (p.Ala578Ser)
c.1222G>T (p.Ala408Ser)
c.1399G>T (p.Ala467Ser)
c.1393G>T (p.Ala465Ser)
c.934G>T (p.Ala312Ser)
c.463G>T (p.Ala155Ser)
n.1895G>T
n.2062G>T
c.1810G>T (p.Ala604Ser)
c.502G>T (p.Ala168Ser)
n.2112G>T
n.2085G>T
8g.141168217C>ACA372343916DENND3c.1967C>A (p.Ala656Asp)
c.1727C>A (p.Ala576Asp)
c.1571C>A (p.Ala524Asp)
c.1740C>A
n.1508C>A
c.1766C>A (p.Ala589Asp)
c.1610C>A (p.Ala537Asp)
c.1733C>A (p.Ala578Asp)
c.1223C>A (p.Ala408Asp)
c.1400C>A (p.Ala467Asp)
c.1394C>A (p.Ala465Asp)
c.935C>A (p.Ala312Asp)
c.464C>A (p.Ala155Asp)
n.1896C>A
n.2063C>A
c.1811C>A (p.Ala604Asp)
c.503C>A (p.Ala168Asp)
n.2113C>A
n.2086C>A
8g.141168217C>GCA372343917DENND3c.1967C>G (p.Ala656Gly)
c.1727C>G (p.Ala576Gly)
c.1571C>G (p.Ala524Gly)
c.1740C>G
n.1508C>G
c.1766C>G (p.Ala589Gly)
c.1610C>G (p.Ala537Gly)
c.1733C>G (p.Ala578Gly)
c.1223C>G (p.Ala408Gly)
c.1400C>G (p.Ala467Gly)
c.1394C>G (p.Ala465Gly)
c.935C>G (p.Ala312Gly)
c.464C>G (p.Ala155Gly)
n.1896C>G
n.2063C>G
c.1811C>G (p.Ala604Gly)
c.503C>G (p.Ala168Gly)
n.2113C>G
n.2086C>G
8g.141168217C>TCA372343918DENND3c.1967C>T (p.Ala656Val)
c.1727C>T (p.Ala576Val)
c.1571C>T (p.Ala524Val)
c.1740C>T
n.1508C>T
c.1766C>T (p.Ala589Val)
c.1610C>T (p.Ala537Val)
c.1733C>T (p.Ala578Val)
c.1223C>T (p.Ala408Val)
c.1400C>T (p.Ala467Val)
c.1394C>T (p.Ala465Val)
c.935C>T (p.Ala312Val)
c.464C>T (p.Ala155Val)
n.1896C>T
n.2063C>T
c.1811C>T (p.Ala604Val)
c.503C>T (p.Ala168Val)
n.2113C>T
n.2086C>T
 gnomAD v4
8g.141168218C>ACA463493565DENND3c.1968C>A (p.Ala656=)
c.1728C>A (p.Ala576=)
c.1572C>A (p.Ala524=)
c.1741C>A
n.1509C>A
c.1767C>A (p.Ala589=)
c.1611C>A (p.Ala537=)
c.1734C>A (p.Ala578=)
c.1224C>A (p.Ala408=)
c.1401C>A (p.Ala467=)
c.1395C>A (p.Ala465=)
c.936C>A (p.Ala312=)
c.465C>A (p.Ala155=)
n.1897C>A
n.2064C>A
c.1812C>A (p.Ala604=)
c.504C>A (p.Ala168=)
n.2114C>A
n.2087C>A
 dbSNP
8g.141168218C>GCA463493567DENND3c.1968C>G (p.Ala656=)
c.1728C>G (p.Ala576=)
c.1572C>G (p.Ala524=)
c.1741C>G
n.1509C>G
c.1767C>G (p.Ala589=)
c.1611C>G (p.Ala537=)
c.1734C>G (p.Ala578=)
c.1224C>G (p.Ala408=)
c.1401C>G (p.Ala467=)
c.1395C>G (p.Ala465=)
c.936C>G (p.Ala312=)
c.465C>G (p.Ala155=)
n.1897C>G
n.2064C>G
c.1812C>G (p.Ala604=)
c.504C>G (p.Ala168=)
n.2114C>G
n.2087C>G
8g.141168218C>TCA463493569DENND3c.1968C>T (p.Ala656=)
c.1728C>T (p.Ala576=)
c.1572C>T (p.Ala524=)
c.1741C>T
n.1509C>T
c.1767C>T (p.Ala589=)
c.1611C>T (p.Ala537=)
c.1734C>T (p.Ala578=)
c.1224C>T (p.Ala408=)
c.1401C>T (p.Ala467=)
c.1395C>T (p.Ala465=)
c.936C>T (p.Ala312=)
c.465C>T (p.Ala155=)
n.1897C>T
n.2064C>T
c.1812C>T (p.Ala604=)
c.504C>T (p.Ala168=)
n.2114C>T
n.2087C>T
8g.141168219C>ACA372343919DENND3c.1969C>A (p.Leu657Ile)
c.1729C>A (p.Leu577Ile)
c.1573C>A (p.Leu525Ile)
c.1742C>A
n.1510C>A
c.1768C>A (p.Leu590Ile)
c.1612C>A (p.Leu538Ile)
c.1735C>A (p.Leu579Ile)
c.1225C>A (p.Leu409Ile)
c.1402C>A (p.Leu468Ile)
c.1396C>A (p.Leu466Ile)
c.937C>A (p.Leu313Ile)
c.466C>A (p.Leu156Ile)
n.1898C>A
n.2065C>A
c.1813C>A (p.Leu605Ile)
c.505C>A (p.Leu169Ile)
n.2115C>A
n.2088C>A
8g.141168219C>GCA372343920DENND3c.1969C>G (p.Leu657Val)
c.1729C>G (p.Leu577Val)
c.1573C>G (p.Leu525Val)
c.1742C>G
n.1510C>G
c.1768C>G (p.Leu590Val)
c.1612C>G (p.Leu538Val)
c.1735C>G (p.Leu579Val)
c.1225C>G (p.Leu409Val)
c.1402C>G (p.Leu468Val)
c.1396C>G (p.Leu466Val)
c.937C>G (p.Leu313Val)
c.466C>G (p.Leu156Val)
n.1898C>G
n.2065C>G
c.1813C>G (p.Leu605Val)
c.505C>G (p.Leu169Val)
n.2115C>G
n.2088C>G
8g.141168219C>TCA372343921DENND3c.1969C>T (p.Leu657Phe)
c.1729C>T (p.Leu577Phe)
c.1573C>T (p.Leu525Phe)
c.1742C>T
n.1510C>T
c.1768C>T (p.Leu590Phe)
c.1612C>T (p.Leu538Phe)
c.1735C>T (p.Leu579Phe)
c.1225C>T (p.Leu409Phe)
c.1402C>T (p.Leu468Phe)
c.1396C>T (p.Leu466Phe)
c.937C>T (p.Leu313Phe)
c.466C>T (p.Leu156Phe)
n.1898C>T
n.2065C>T
c.1813C>T (p.Leu605Phe)
c.505C>T (p.Leu169Phe)
n.2115C>T
n.2088C>T
8g.141168220T>ACA372343922DENND3c.1970T>A (p.Leu657His)
c.1730T>A (p.Leu577His)
c.1574T>A (p.Leu525His)
c.1743T>A
n.1511T>A
c.1769T>A (p.Leu590His)
c.1613T>A (p.Leu538His)
c.1736T>A (p.Leu579His)
c.1226T>A (p.Leu409His)
c.1403T>A (p.Leu468His)
c.1397T>A (p.Leu466His)
c.938T>A (p.Leu313His)
c.467T>A (p.Leu156His)
n.1899T>A
n.2066T>A
c.1814T>A (p.Leu605His)
c.506T>A (p.Leu169His)
n.2116T>A
n.2089T>A
8g.141168220T>CCA372343923DENND3c.1970T>C (p.Leu657Pro)
c.1730T>C (p.Leu577Pro)
c.1574T>C (p.Leu525Pro)
c.1743T>C
n.1511T>C
c.1769T>C (p.Leu590Pro)
c.1613T>C (p.Leu538Pro)
c.1736T>C (p.Leu579Pro)
c.1226T>C (p.Leu409Pro)
c.1403T>C (p.Leu468Pro)
c.1397T>C (p.Leu466Pro)
c.938T>C (p.Leu313Pro)
c.467T>C (p.Leu156Pro)
n.1899T>C
n.2066T>C
c.1814T>C (p.Leu605Pro)
c.506T>C (p.Leu169Pro)
n.2116T>C
n.2089T>C
8g.141168220T>GCA372343924DENND3c.1970T>G (p.Leu657Arg)
c.1730T>G (p.Leu577Arg)
c.1574T>G (p.Leu525Arg)
c.1743T>G
n.1511T>G
c.1769T>G (p.Leu590Arg)
c.1613T>G (p.Leu538Arg)
c.1736T>G (p.Leu579Arg)
c.1226T>G (p.Leu409Arg)
c.1403T>G (p.Leu468Arg)
c.1397T>G (p.Leu466Arg)
c.938T>G (p.Leu313Arg)
c.467T>G (p.Leu156Arg)
n.1899T>G
n.2066T>G
c.1814T>G (p.Leu605Arg)
c.506T>G (p.Leu169Arg)
n.2116T>G
n.2089T>G
8g.141168221C>ACA463493579DENND3c.1971C>A (p.Leu657=)
c.1731C>A (p.Leu577=)
c.1575C>A (p.Leu525=)
c.1744C>A
n.1512C>A
c.1770C>A (p.Leu590=)
c.1614C>A (p.Leu538=)
c.1737C>A (p.Leu579=)
c.1227C>A (p.Leu409=)
c.1404C>A (p.Leu468=)
c.1398C>A (p.Leu466=)
c.939C>A (p.Leu313=)
c.468C>A (p.Leu156=)
n.1900C>A
n.2067C>A
c.1815C>A (p.Leu605=)
c.507C>A (p.Leu169=)
n.2117C>A
n.2090C>A
 gnomAD v4
8g.141168221C>GCA463493581DENND3c.1971C>G (p.Leu657=)
c.1731C>G (p.Leu577=)
c.1575C>G (p.Leu525=)
c.1744C>G
n.1512C>G
c.1770C>G (p.Leu590=)
c.1614C>G (p.Leu538=)
c.1737C>G (p.Leu579=)
c.1227C>G (p.Leu409=)
c.1404C>G (p.Leu468=)
c.1398C>G (p.Leu466=)
c.939C>G (p.Leu313=)
c.468C>G (p.Leu156=)
n.1900C>G
n.2067C>G
c.1815C>G (p.Leu605=)
c.507C>G (p.Leu169=)
n.2117C>G
n.2090C>G
 gnomAD v4
8g.141168221C>TCA4896786DENND3c.1971C>T (p.Leu657=)
c.1731C>T (p.Leu577=)
c.1575C>T (p.Leu525=)
c.1744C>T
n.1512C>T
c.1770C>T (p.Leu590=)
c.1614C>T (p.Leu538=)
c.1737C>T (p.Leu579=)
c.1227C>T (p.Leu409=)
c.1404C>T (p.Leu468=)
c.1398C>T (p.Leu466=)
c.939C>T (p.Leu313=)
c.468C>T (p.Leu156=)
n.1900C>T
n.2067C>T
c.1815C>T (p.Leu605=)
c.507C>T (p.Leu169=)
n.2117C>T
n.2090C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168222T>ACA372343925DENND3c.1972T>A (p.Leu658Met)
c.1732T>A (p.Leu578Met)
c.1576T>A (p.Leu526Met)
c.1745T>A
n.1513T>A
c.1771T>A (p.Leu591Met)
c.1615T>A (p.Leu539Met)
c.1738T>A (p.Leu580Met)
c.1228T>A (p.Leu410Met)
c.1405T>A (p.Leu469Met)
c.1399T>A (p.Leu467Met)
c.940T>A (p.Leu314Met)
c.469T>A (p.Leu157Met)
n.1901T>A
n.2068T>A
c.1816T>A (p.Leu606Met)
c.508T>A (p.Leu170Met)
n.2118T>A
n.2091T>A
8g.141168222T>CCA463493587DENND3c.1972T>C (p.Leu658=)
c.1732T>C (p.Leu578=)
c.1576T>C (p.Leu526=)
c.1745T>C
n.1513T>C
c.1771T>C (p.Leu591=)
c.1615T>C (p.Leu539=)
c.1738T>C (p.Leu580=)
c.1228T>C (p.Leu410=)
c.1405T>C (p.Leu469=)
c.1399T>C (p.Leu467=)
c.940T>C (p.Leu314=)
c.469T>C (p.Leu157=)
n.1901T>C
n.2068T>C
c.1816T>C (p.Leu606=)
c.508T>C (p.Leu170=)
n.2118T>C
n.2091T>C
 COSMIC
8g.141168222T>GCA372343926DENND3c.1972T>G (p.Leu658Val)
c.1732T>G (p.Leu578Val)
c.1576T>G (p.Leu526Val)
c.1745T>G
n.1513T>G
c.1771T>G (p.Leu591Val)
c.1615T>G (p.Leu539Val)
c.1738T>G (p.Leu580Val)
c.1228T>G (p.Leu410Val)
c.1405T>G (p.Leu469Val)
c.1399T>G (p.Leu467Val)
c.940T>G (p.Leu314Val)
c.469T>G (p.Leu157Val)
n.1901T>G
n.2068T>G
c.1816T>G (p.Leu606Val)
c.508T>G (p.Leu170Val)
n.2118T>G
n.2091T>G
8g.141168223T>ACA372343927DENND3c.1973T>A (p.Leu658Ter)
c.1733T>A (p.Leu578Ter)
c.1577T>A (p.Leu526Ter)
c.1746T>A
n.1514T>A
c.1772T>A (p.Leu591Ter)
c.1616T>A (p.Leu539Ter)
c.1739T>A (p.Leu580Ter)
c.1229T>A (p.Leu410Ter)
c.1406T>A (p.Leu469Ter)
c.1400T>A (p.Leu467Ter)
c.941T>A (p.Leu314Ter)
c.470T>A (p.Leu157Ter)
n.1902T>A
n.2069T>A
c.1817T>A (p.Leu606Ter)
c.509T>A (p.Leu170Ter)
n.2119T>A
n.2092T>A
8g.141168223T>CCA372343928DENND3c.1973T>C (p.Leu658Ser)
c.1733T>C (p.Leu578Ser)
c.1577T>C (p.Leu526Ser)
c.1746T>C
n.1514T>C
c.1772T>C (p.Leu591Ser)
c.1616T>C (p.Leu539Ser)
c.1739T>C (p.Leu580Ser)
c.1229T>C (p.Leu410Ser)
c.1406T>C (p.Leu469Ser)
c.1400T>C (p.Leu467Ser)
c.941T>C (p.Leu314Ser)
c.470T>C (p.Leu157Ser)
n.1902T>C
n.2069T>C
c.1817T>C (p.Leu606Ser)
c.509T>C (p.Leu170Ser)
n.2119T>C
n.2092T>C
8g.141168223T>GCA372343929DENND3c.1973T>G (p.Leu658Trp)
c.1733T>G (p.Leu578Trp)
c.1577T>G (p.Leu526Trp)
c.1746T>G
n.1514T>G
c.1772T>G (p.Leu591Trp)
c.1616T>G (p.Leu539Trp)
c.1739T>G (p.Leu580Trp)
c.1229T>G (p.Leu410Trp)
c.1406T>G (p.Leu469Trp)
c.1400T>G (p.Leu467Trp)
c.941T>G (p.Leu314Trp)
c.470T>G (p.Leu157Trp)
n.1902T>G
n.2069T>G
c.1817T>G (p.Leu606Trp)
c.509T>G (p.Leu170Trp)
n.2119T>G
n.2092T>G
8g.141168224G>ACA463493592DENND3c.1974G>A (p.Leu658=)
c.1734G>A (p.Leu578=)
c.1578G>A (p.Leu526=)
c.1747G>A
n.1515G>A
c.1773G>A (p.Leu591=)
c.1617G>A (p.Leu539=)
c.1740G>A (p.Leu580=)
c.1230G>A (p.Leu410=)
c.1407G>A (p.Leu469=)
c.1401G>A (p.Leu467=)
c.942G>A (p.Leu314=)
c.471G>A (p.Leu157=)
n.1903G>A
n.2070G>A
c.1818G>A (p.Leu606=)
c.510G>A (p.Leu170=)
n.2120G>A
n.2093G>A
 gnomAD v4
8g.141168224G>CCA372343930DENND3c.1974G>C (p.Leu658Phe)
c.1734G>C (p.Leu578Phe)
c.1578G>C (p.Leu526Phe)
c.1747G>C
n.1515G>C
c.1773G>C (p.Leu591Phe)
c.1617G>C (p.Leu539Phe)
c.1740G>C (p.Leu580Phe)
c.1230G>C (p.Leu410Phe)
c.1407G>C (p.Leu469Phe)
c.1401G>C (p.Leu467Phe)
c.942G>C (p.Leu314Phe)
c.471G>C (p.Leu157Phe)
n.1903G>C
n.2070G>C
c.1818G>C (p.Leu606Phe)
c.510G>C (p.Leu170Phe)
n.2120G>C
n.2093G>C
8g.141168224G>TCA372343931DENND3c.1974G>T (p.Leu658Phe)
c.1734G>T (p.Leu578Phe)
c.1578G>T (p.Leu526Phe)
c.1747G>T
n.1515G>T
c.1773G>T (p.Leu591Phe)
c.1617G>T (p.Leu539Phe)
c.1740G>T (p.Leu580Phe)
c.1230G>T (p.Leu410Phe)
c.1407G>T (p.Leu469Phe)
c.1401G>T (p.Leu467Phe)
c.942G>T (p.Leu314Phe)
c.471G>T (p.Leu157Phe)
n.1903G>T
n.2070G>T
c.1818G>T (p.Leu606Phe)
c.510G>T (p.Leu170Phe)
n.2120G>T
n.2093G>T
8g.141168225G>ACA372343932DENND3c.1975G>A (p.Asp659Asn)
c.1735G>A (p.Asp579Asn)
c.1579G>A (p.Asp527Asn)
c.1748G>A
n.1516G>A
c.1774G>A (p.Asp592Asn)
c.1618G>A (p.Asp540Asn)
c.1741G>A (p.Asp581Asn)
c.1231G>A (p.Asp411Asn)
c.1408G>A (p.Asp470Asn)
c.1402G>A (p.Asp468Asn)
c.943G>A (p.Asp315Asn)
c.472G>A (p.Asp158Asn)
n.1904G>A
n.2071G>A
c.1819G>A (p.Asp607Asn)
c.511G>A (p.Asp171Asn)
n.2121G>A
n.2094G>A
8g.141168225G>CCA372343933DENND3c.1975G>C (p.Asp659His)
c.1735G>C (p.Asp579His)
c.1579G>C (p.Asp527His)
c.1748G>C
n.1516G>C
c.1774G>C (p.Asp592His)
c.1618G>C (p.Asp540His)
c.1741G>C (p.Asp581His)
c.1231G>C (p.Asp411His)
c.1408G>C (p.Asp470His)
c.1402G>C (p.Asp468His)
c.943G>C (p.Asp315His)
c.472G>C (p.Asp158His)
n.1904G>C
n.2071G>C
c.1819G>C (p.Asp607His)
c.511G>C (p.Asp171His)
n.2121G>C
n.2094G>C
8g.141168225G>TCA372343934DENND3c.1975G>T (p.Asp659Tyr)
c.1735G>T (p.Asp579Tyr)
c.1579G>T (p.Asp527Tyr)
c.1748G>T
n.1516G>T
c.1774G>T (p.Asp592Tyr)
c.1618G>T (p.Asp540Tyr)
c.1741G>T (p.Asp581Tyr)
c.1231G>T (p.Asp411Tyr)
c.1408G>T (p.Asp470Tyr)
c.1402G>T (p.Asp468Tyr)
c.943G>T (p.Asp315Tyr)
c.472G>T (p.Asp158Tyr)
n.1904G>T
n.2071G>T
c.1819G>T (p.Asp607Tyr)
c.511G>T (p.Asp171Tyr)
n.2121G>T
n.2094G>T
8g.141168226A>CCA372343935DENND3c.1976A>C (p.Asp659Ala)
c.1736A>C (p.Asp579Ala)
c.1580A>C (p.Asp527Ala)
c.1749A>C
n.1517A>C
c.1775A>C (p.Asp592Ala)
c.1619A>C (p.Asp540Ala)
c.1742A>C (p.Asp581Ala)
c.1232A>C (p.Asp411Ala)
c.1409A>C (p.Asp470Ala)
c.1403A>C (p.Asp468Ala)
c.944A>C (p.Asp315Ala)
c.473A>C (p.Asp158Ala)
n.1905A>C
n.2072A>C
c.1820A>C (p.Asp607Ala)
c.512A>C (p.Asp171Ala)
n.2122A>C
n.2095A>C
 gnomAD v4
8g.141168226A>GCA372343936DENND3c.1976A>G (p.Asp659Gly)
c.1736A>G (p.Asp579Gly)
c.1580A>G (p.Asp527Gly)
c.1749A>G
n.1517A>G
c.1775A>G (p.Asp592Gly)
c.1619A>G (p.Asp540Gly)
c.1742A>G (p.Asp581Gly)
c.1232A>G (p.Asp411Gly)
c.1409A>G (p.Asp470Gly)
c.1403A>G (p.Asp468Gly)
c.944A>G (p.Asp315Gly)
c.473A>G (p.Asp158Gly)
n.1905A>G
n.2072A>G
c.1820A>G (p.Asp607Gly)
c.512A>G (p.Asp171Gly)
n.2122A>G
n.2095A>G
8g.141168226A>TCA372343937DENND3c.1976A>T (p.Asp659Val)
c.1736A>T (p.Asp579Val)
c.1580A>T (p.Asp527Val)
c.1749A>T
n.1517A>T
c.1775A>T (p.Asp592Val)
c.1619A>T (p.Asp540Val)
c.1742A>T (p.Asp581Val)
c.1232A>T (p.Asp411Val)
c.1409A>T (p.Asp470Val)
c.1403A>T (p.Asp468Val)
c.944A>T (p.Asp315Val)
c.473A>T (p.Asp158Val)
n.1905A>T
n.2072A>T
c.1820A>T (p.Asp607Val)
c.512A>T (p.Asp171Val)
n.2122A>T
n.2095A>T
8g.141168227C>ACA372343938DENND3c.1977C>A (p.Asp659Glu)
c.1737C>A (p.Asp579Glu)
c.1581C>A (p.Asp527Glu)
c.1750C>A
n.1518C>A
c.1776C>A (p.Asp592Glu)
c.1620C>A (p.Asp540Glu)
c.1743C>A (p.Asp581Glu)
c.1233C>A (p.Asp411Glu)
c.1410C>A (p.Asp470Glu)
c.1404C>A (p.Asp468Glu)
c.945C>A (p.Asp315Glu)
c.474C>A (p.Asp158Glu)
n.1906C>A
n.2073C>A
c.1821C>A (p.Asp607Glu)
c.513C>A (p.Asp171Glu)
n.2123C>A
n.2096C>A
8g.141168227C>GCA372343939DENND3c.1977C>G (p.Asp659Glu)
c.1737C>G (p.Asp579Glu)
c.1581C>G (p.Asp527Glu)
c.1750C>G
n.1518C>G
c.1776C>G (p.Asp592Glu)
c.1620C>G (p.Asp540Glu)
c.1743C>G (p.Asp581Glu)
c.1233C>G (p.Asp411Glu)
c.1410C>G (p.Asp470Glu)
c.1404C>G (p.Asp468Glu)
c.945C>G (p.Asp315Glu)
c.474C>G (p.Asp158Glu)
n.1906C>G
n.2073C>G
c.1821C>G (p.Asp607Glu)
c.513C>G (p.Asp171Glu)
n.2123C>G
n.2096C>G
8g.141168227C>TCA463493603DENND3c.1977C>T (p.Asp659=)
c.1737C>T (p.Asp579=)
c.1581C>T (p.Asp527=)
c.1750C>T
n.1518C>T
c.1776C>T (p.Asp592=)
c.1620C>T (p.Asp540=)
c.1743C>T (p.Asp581=)
c.1233C>T (p.Asp411=)
c.1410C>T (p.Asp470=)
c.1404C>T (p.Asp468=)
c.945C>T (p.Asp315=)
c.474C>T (p.Asp158=)
n.1906C>T
n.2073C>T
c.1821C>T (p.Asp607=)
c.513C>T (p.Asp171=)
n.2123C>T
n.2096C>T
8g.141168228T>ACA372343940DENND3c.1978T>A (p.Phe660Ile)
c.1738T>A (p.Phe580Ile)
c.1582T>A (p.Phe528Ile)
c.1751T>A
n.1519T>A
c.1777T>A (p.Phe593Ile)
c.1621T>A (p.Phe541Ile)
c.1744T>A (p.Phe582Ile)
c.1234T>A (p.Phe412Ile)
c.1411T>A (p.Phe471Ile)
c.1405T>A (p.Phe469Ile)
c.946T>A (p.Phe316Ile)
c.475T>A (p.Phe159Ile)
n.1907T>A
n.2074T>A
c.1822T>A (p.Phe608Ile)
c.514T>A (p.Phe172Ile)
n.2124T>A
n.2097T>A
8g.141168228T>CCA372343942DENND3c.1978T>C (p.Phe660Leu)
c.1738T>C (p.Phe580Leu)
c.1582T>C (p.Phe528Leu)
c.1751T>C
n.1519T>C
c.1777T>C (p.Phe593Leu)
c.1621T>C (p.Phe541Leu)
c.1744T>C (p.Phe582Leu)
c.1234T>C (p.Phe412Leu)
c.1411T>C (p.Phe471Leu)
c.1405T>C (p.Phe469Leu)
c.946T>C (p.Phe316Leu)
c.475T>C (p.Phe159Leu)
n.1907T>C
n.2074T>C
c.1822T>C (p.Phe608Leu)
c.514T>C (p.Phe172Leu)
n.2124T>C
n.2097T>C
8g.141168228T>GCA372343941DENND3c.1978T>G (p.Phe660Val)
c.1738T>G (p.Phe580Val)
c.1582T>G (p.Phe528Val)
c.1751T>G
n.1519T>G
c.1777T>G (p.Phe593Val)
c.1621T>G (p.Phe541Val)
c.1744T>G (p.Phe582Val)
c.1234T>G (p.Phe412Val)
c.1411T>G (p.Phe471Val)
c.1405T>G (p.Phe469Val)
c.946T>G (p.Phe316Val)
c.475T>G (p.Phe159Val)
n.1907T>G
n.2074T>G
c.1822T>G (p.Phe608Val)
c.514T>G (p.Phe172Val)
n.2124T>G
n.2097T>G
8g.141168229T>ACA372343943DENND3c.1979T>A (p.Phe660Tyr)
c.1739T>A (p.Phe580Tyr)
c.1583T>A (p.Phe528Tyr)
c.1752T>A
n.1520T>A
c.1778T>A (p.Phe593Tyr)
c.1622T>A (p.Phe541Tyr)
c.1745T>A (p.Phe582Tyr)
c.1235T>A (p.Phe412Tyr)
c.1412T>A (p.Phe471Tyr)
c.1406T>A (p.Phe469Tyr)
c.947T>A (p.Phe316Tyr)
c.476T>A (p.Phe159Tyr)
n.1908T>A
n.2075T>A
c.1823T>A (p.Phe608Tyr)
c.515T>A (p.Phe172Tyr)
n.2125T>A
n.2098T>A
8g.141168229T>CCA372343944DENND3c.1979T>C (p.Phe660Ser)
c.1739T>C (p.Phe580Ser)
c.1583T>C (p.Phe528Ser)
c.1752T>C
n.1520T>C
c.1778T>C (p.Phe593Ser)
c.1622T>C (p.Phe541Ser)
c.1745T>C (p.Phe582Ser)
c.1235T>C (p.Phe412Ser)
c.1412T>C (p.Phe471Ser)
c.1406T>C (p.Phe469Ser)
c.947T>C (p.Phe316Ser)
c.476T>C (p.Phe159Ser)
n.1908T>C
n.2075T>C
c.1823T>C (p.Phe608Ser)
c.515T>C (p.Phe172Ser)
n.2125T>C
n.2098T>C
8g.141168229T>GCA372343945DENND3c.1979T>G (p.Phe660Cys)
c.1739T>G (p.Phe580Cys)
c.1583T>G (p.Phe528Cys)
c.1752T>G
n.1520T>G
c.1778T>G (p.Phe593Cys)
c.1622T>G (p.Phe541Cys)
c.1745T>G (p.Phe582Cys)
c.1235T>G (p.Phe412Cys)
c.1412T>G (p.Phe471Cys)
c.1406T>G (p.Phe469Cys)
c.947T>G (p.Phe316Cys)
c.476T>G (p.Phe159Cys)
n.1908T>G
n.2075T>G
c.1823T>G (p.Phe608Cys)
c.515T>G (p.Phe172Cys)
n.2125T>G
n.2098T>G
8g.141168230C>ACA372343946DENND3c.1980C>A (p.Phe660Leu)
c.1740C>A (p.Phe580Leu)
c.1584C>A (p.Phe528Leu)
c.1753C>A
n.1521C>A
c.1779C>A (p.Phe593Leu)
c.1623C>A (p.Phe541Leu)
c.1746C>A (p.Phe582Leu)
c.1236C>A (p.Phe412Leu)
c.1413C>A (p.Phe471Leu)
c.1407C>A (p.Phe469Leu)
c.948C>A (p.Phe316Leu)
c.477C>A (p.Phe159Leu)
n.1909C>A
n.2076C>A
c.1824C>A (p.Phe608Leu)
c.516C>A (p.Phe172Leu)
n.2126C>A
n.2099C>A
8g.141168230C>GCA372343947DENND3c.1980C>G (p.Phe660Leu)
c.1740C>G (p.Phe580Leu)
c.1584C>G (p.Phe528Leu)
c.1753C>G
n.1521C>G
c.1779C>G (p.Phe593Leu)
c.1623C>G (p.Phe541Leu)
c.1746C>G (p.Phe582Leu)
c.1236C>G (p.Phe412Leu)
c.1413C>G (p.Phe471Leu)
c.1407C>G (p.Phe469Leu)
c.948C>G (p.Phe316Leu)
c.477C>G (p.Phe159Leu)
n.1909C>G
n.2076C>G
c.1824C>G (p.Phe608Leu)
c.516C>G (p.Phe172Leu)
n.2126C>G
n.2099C>G
8g.141168230C>TCA463493616DENND3c.1980C>T (p.Phe660=)
c.1740C>T (p.Phe580=)
c.1584C>T (p.Phe528=)
c.1753C>T
n.1521C>T
c.1779C>T (p.Phe593=)
c.1623C>T (p.Phe541=)
c.1746C>T (p.Phe582=)
c.1236C>T (p.Phe412=)
c.1413C>T (p.Phe471=)
c.1407C>T (p.Phe469=)
c.948C>T (p.Phe316=)
c.477C>T (p.Phe159=)
n.1909C>T
n.2076C>T
c.1824C>T (p.Phe608=)
c.516C>T (p.Phe172=)
n.2126C>T
n.2099C>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168231C>ACA372343948DENND3c.1981C>A (p.Gln661Lys)
c.1741C>A (p.Gln581Lys)
c.1585C>A (p.Gln529Lys)
c.1754C>A
n.1522C>A
c.1780C>A (p.Gln594Lys)
c.1624C>A (p.Gln542Lys)
c.1747C>A (p.Gln583Lys)
c.1237C>A (p.Gln413Lys)
c.1414C>A (p.Gln472Lys)
c.1408C>A (p.Gln470Lys)
c.949C>A (p.Gln317Lys)
c.478C>A (p.Gln160Lys)
n.1910C>A
n.2077C>A
c.1825C>A (p.Gln609Lys)
c.517C>A (p.Gln173Lys)
n.2127C>A
n.2100C>A
8g.141168231C>GCA372343949DENND3c.1981C>G (p.Gln661Glu)
c.1741C>G (p.Gln581Glu)
c.1585C>G (p.Gln529Glu)
c.1754C>G
n.1522C>G
c.1780C>G (p.Gln594Glu)
c.1624C>G (p.Gln542Glu)
c.1747C>G (p.Gln583Glu)
c.1237C>G (p.Gln413Glu)
c.1414C>G (p.Gln472Glu)
c.1408C>G (p.Gln470Glu)
c.949C>G (p.Gln317Glu)
c.478C>G (p.Gln160Glu)
n.1910C>G
n.2077C>G
c.1825C>G (p.Gln609Glu)
c.517C>G (p.Gln173Glu)
n.2127C>G
n.2100C>G
8g.141168231C>TCA372343950DENND3c.1981C>T (p.Gln661Ter)
c.1741C>T (p.Gln581Ter)
c.1585C>T (p.Gln529Ter)
c.1754C>T
n.1522C>T
c.1780C>T (p.Gln594Ter)
c.1624C>T (p.Gln542Ter)
c.1747C>T (p.Gln583Ter)
c.1237C>T (p.Gln413Ter)
c.1414C>T (p.Gln472Ter)
c.1408C>T (p.Gln470Ter)
c.949C>T (p.Gln317Ter)
c.478C>T (p.Gln160Ter)
n.1910C>T
n.2077C>T
c.1825C>T (p.Gln609Ter)
c.517C>T (p.Gln173Ter)
n.2127C>T
n.2100C>T
8g.141168232A>CCA372343951DENND3c.1982A>C (p.Gln661Pro)
c.1742A>C (p.Gln581Pro)
c.1586A>C (p.Gln529Pro)
c.1755A>C
n.1523A>C
c.1781A>C (p.Gln594Pro)
c.1625A>C (p.Gln542Pro)
c.1748A>C (p.Gln583Pro)
c.1238A>C (p.Gln413Pro)
c.1415A>C (p.Gln472Pro)
c.1409A>C (p.Gln470Pro)
c.950A>C (p.Gln317Pro)
c.479A>C (p.Gln160Pro)
n.1911A>C
n.2078A>C
c.1826A>C (p.Gln609Pro)
c.518A>C (p.Gln173Pro)
n.2128A>C
n.2101A>C
8g.141168232A>GCA372343952DENND3c.1982A>G (p.Gln661Arg)
c.1742A>G (p.Gln581Arg)
c.1586A>G (p.Gln529Arg)
c.1755A>G
n.1523A>G
c.1781A>G (p.Gln594Arg)
c.1625A>G (p.Gln542Arg)
c.1748A>G (p.Gln583Arg)
c.1238A>G (p.Gln413Arg)
c.1415A>G (p.Gln472Arg)
c.1409A>G (p.Gln470Arg)
c.950A>G (p.Gln317Arg)
c.479A>G (p.Gln160Arg)
n.1911A>G
n.2078A>G
c.1826A>G (p.Gln609Arg)
c.518A>G (p.Gln173Arg)
n.2128A>G
n.2101A>G
8g.141168232A>TCA372343953DENND3c.1982A>T (p.Gln661Leu)
c.1742A>T (p.Gln581Leu)
c.1586A>T (p.Gln529Leu)
c.1755A>T
n.1523A>T
c.1781A>T (p.Gln594Leu)
c.1625A>T (p.Gln542Leu)
c.1748A>T (p.Gln583Leu)
c.1238A>T (p.Gln413Leu)
c.1415A>T (p.Gln472Leu)
c.1409A>T (p.Gln470Leu)
c.950A>T (p.Gln317Leu)
c.479A>T (p.Gln160Leu)
n.1911A>T
n.2078A>T
c.1826A>T (p.Gln609Leu)
c.518A>T (p.Gln173Leu)
n.2128A>T
n.2101A>T
8g.141168233G>ACA4896787DENND3c.1983G>A (p.Gln661=)
c.1743G>A (p.Gln581=)
c.1587G>A (p.Gln529=)
c.1756G>A
n.1524G>A
c.1782G>A (p.Gln594=)
c.1626G>A (p.Gln542=)
c.1749G>A (p.Gln583=)
c.1239G>A (p.Gln413=)
c.1416G>A (p.Gln472=)
c.1410G>A (p.Gln470=)
c.951G>A (p.Gln317=)
c.480G>A (p.Gln160=)
n.1912G>A
n.2079G>A
c.1827G>A (p.Gln609=)
c.519G>A (p.Gln173=)
n.2129G>A
n.2102G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168233G>CCA372343955DENND3c.1983G>C (p.Gln661His)
c.1743G>C (p.Gln581His)
c.1587G>C (p.Gln529His)
c.1756G>C
n.1524G>C
c.1782G>C (p.Gln594His)
c.1626G>C (p.Gln542His)
c.1749G>C (p.Gln583His)
c.1239G>C (p.Gln413His)
c.1416G>C (p.Gln472His)
c.1410G>C (p.Gln470His)
c.951G>C (p.Gln317His)
c.480G>C (p.Gln160His)
n.1912G>C
n.2079G>C
c.1827G>C (p.Gln609His)
c.519G>C (p.Gln173His)
n.2129G>C
n.2102G>C
 dbSNP gnomAD v4
8g.141168233G>TCA372343954DENND3c.1983G>T (p.Gln661His)
c.1743G>T (p.Gln581His)
c.1587G>T (p.Gln529His)
c.1756G>T
n.1524G>T
c.1782G>T (p.Gln594His)
c.1626G>T (p.Gln542His)
c.1749G>T (p.Gln583His)
c.1239G>T (p.Gln413His)
c.1416G>T (p.Gln472His)
c.1410G>T (p.Gln470His)
c.951G>T (p.Gln317His)
c.480G>T (p.Gln160His)
n.1912G>T
n.2079G>T
c.1827G>T (p.Gln609His)
c.519G>T (p.Gln173His)
n.2129G>T
n.2102G>T
 COSMIC
8g.141168234A>CCA372343958DENND3c.1984A>C (p.Asn662His)
c.1744A>C (p.Asn582His)
c.1588A>C (p.Asn530His)
c.1757A>C
n.1525A>C
c.1783A>C (p.Asn595His)
c.1627A>C (p.Asn543His)
c.1750A>C (p.Asn584His)
c.1240A>C (p.Asn414His)
c.1417A>C (p.Asn473His)
c.1411A>C (p.Asn471His)
c.952A>C (p.Asn318His)
c.481A>C (p.Asn161His)
n.1913A>C
n.2080A>C
c.1828A>C (p.Asn610His)
c.520A>C (p.Asn174His)
n.2130A>C
n.2103A>C
8g.141168234A>GCA372343956DENND3c.1984A>G (p.Asn662Asp)
c.1744A>G (p.Asn582Asp)
c.1588A>G (p.Asn530Asp)
c.1757A>G
n.1525A>G
c.1783A>G (p.Asn595Asp)
c.1627A>G (p.Asn543Asp)
c.1750A>G (p.Asn584Asp)
c.1240A>G (p.Asn414Asp)
c.1417A>G (p.Asn473Asp)
c.1411A>G (p.Asn471Asp)
c.952A>G (p.Asn318Asp)
c.481A>G (p.Asn161Asp)
n.1913A>G
n.2080A>G
c.1828A>G (p.Asn610Asp)
c.520A>G (p.Asn174Asp)
n.2130A>G
n.2103A>G
8g.141168234A>TCA372343957DENND3c.1984A>T (p.Asn662Tyr)
c.1744A>T (p.Asn582Tyr)
c.1588A>T (p.Asn530Tyr)
c.1757A>T
n.1525A>T
c.1783A>T (p.Asn595Tyr)
c.1627A>T (p.Asn543Tyr)
c.1750A>T (p.Asn584Tyr)
c.1240A>T (p.Asn414Tyr)
c.1417A>T (p.Asn473Tyr)
c.1411A>T (p.Asn471Tyr)
c.952A>T (p.Asn318Tyr)
c.481A>T (p.Asn161Tyr)
n.1913A>T
n.2080A>T
c.1828A>T (p.Asn610Tyr)
c.520A>T (p.Asn174Tyr)
n.2130A>T
n.2103A>T
8g.141168235A>CCA372343959DENND3c.1985A>C (p.Asn662Thr)
c.1745A>C (p.Asn582Thr)
c.1589A>C (p.Asn530Thr)
c.1758A>C
n.1526A>C
c.1784A>C (p.Asn595Thr)
c.1628A>C (p.Asn543Thr)
c.1751A>C (p.Asn584Thr)
c.1241A>C (p.Asn414Thr)
c.1418A>C (p.Asn473Thr)
c.1412A>C (p.Asn471Thr)
c.953A>C (p.Asn318Thr)
c.482A>C (p.Asn161Thr)
n.1914A>C
n.2081A>C
c.1829A>C (p.Asn610Thr)
c.521A>C (p.Asn174Thr)
n.2131A>C
n.2104A>C
8g.141168235A>GCA372343960DENND3c.1985A>G (p.Asn662Ser)
c.1745A>G (p.Asn582Ser)
c.1589A>G (p.Asn530Ser)
c.1758A>G
n.1526A>G
c.1784A>G (p.Asn595Ser)
c.1628A>G (p.Asn543Ser)
c.1751A>G (p.Asn584Ser)
c.1241A>G (p.Asn414Ser)
c.1418A>G (p.Asn473Ser)
c.1412A>G (p.Asn471Ser)
c.953A>G (p.Asn318Ser)
c.482A>G (p.Asn161Ser)
n.1914A>G
n.2081A>G
c.1829A>G (p.Asn610Ser)
c.521A>G (p.Asn174Ser)
n.2131A>G
n.2104A>G
8g.141168235A>TCA372343961DENND3c.1985A>T (p.Asn662Ile)
c.1745A>T (p.Asn582Ile)
c.1589A>T (p.Asn530Ile)
c.1758A>T
n.1526A>T
c.1784A>T (p.Asn595Ile)
c.1628A>T (p.Asn543Ile)
c.1751A>T (p.Asn584Ile)
c.1241A>T (p.Asn414Ile)
c.1418A>T (p.Asn473Ile)
c.1412A>T (p.Asn471Ile)
c.953A>T (p.Asn318Ile)
c.482A>T (p.Asn161Ile)
n.1914A>T
n.2081A>T
c.1829A>T (p.Asn610Ile)
c.521A>T (p.Asn174Ile)
n.2131A>T
n.2104A>T
8g.141168236T>ACA372343962DENND3c.1986T>A (p.Asn662Lys)
c.1746T>A (p.Asn582Lys)
c.1590T>A (p.Asn530Lys)
c.1759T>A
n.1527T>A
c.1785T>A (p.Asn595Lys)
c.1629T>A (p.Asn543Lys)
c.1752T>A (p.Asn584Lys)
c.1242T>A (p.Asn414Lys)
c.1419T>A (p.Asn473Lys)
c.1413T>A (p.Asn471Lys)
c.954T>A (p.Asn318Lys)
c.483T>A (p.Asn161Lys)
n.1915T>A
n.2082T>A
c.1830T>A (p.Asn610Lys)
c.522T>A (p.Asn174Lys)
n.2132T>A
n.2105T>A
8g.141168236T>CCA463493642DENND3c.1986T>C (p.Asn662=)
c.1746T>C (p.Asn582=)
c.1590T>C (p.Asn530=)
c.1759T>C
n.1527T>C
c.1785T>C (p.Asn595=)
c.1629T>C (p.Asn543=)
c.1752T>C (p.Asn584=)
c.1242T>C (p.Asn414=)
c.1419T>C (p.Asn473=)
c.1413T>C (p.Asn471=)
c.954T>C (p.Asn318=)
c.483T>C (p.Asn161=)
n.1915T>C
n.2082T>C
c.1830T>C (p.Asn610=)
c.522T>C (p.Asn174=)
n.2132T>C
n.2105T>C
8g.141168236T>GCA372343963DENND3c.1986T>G (p.Asn662Lys)
c.1746T>G (p.Asn582Lys)
c.1590T>G (p.Asn530Lys)
c.1759T>G
n.1527T>G
c.1785T>G (p.Asn595Lys)
c.1629T>G (p.Asn543Lys)
c.1752T>G (p.Asn584Lys)
c.1242T>G (p.Asn414Lys)
c.1419T>G (p.Asn473Lys)
c.1413T>G (p.Asn471Lys)
c.954T>G (p.Asn318Lys)
c.483T>G (p.Asn161Lys)
n.1915T>G
n.2082T>G
c.1830T>G (p.Asn610Lys)
c.522T>G (p.Asn174Lys)
n.2132T>G
n.2105T>G
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
8g.141168253T>GCA372344003DENND3c.2003T>G (p.Ile668Arg)
c.1763T>G (p.Ile588Arg)
c.1607T>G (p.Ile536Arg)
c.1776T>G
n.1544T>G
c.1802T>G (p.Ile601Arg)
c.1646T>G (p.Ile549Arg)
c.1769T>G (p.Ile590Arg)
c.1259T>G (p.Ile420Arg)
c.1436T>G (p.Ile479Arg)
c.1430T>G (p.Ile477Arg)
c.971T>G (p.Ile324Arg)
c.500T>G (p.Ile167Arg)
n.1932T>G
n.2099T>G
c.1847T>G (p.Ile616Arg)
c.539T>G (p.Ile180Arg)
n.2149T>G
n.2122T>G
8g.141168254A>CCA463493712DENND3c.2004A>C (p.Ile668=)
c.1764A>C (p.Ile588=)
c.1608A>C (p.Ile536=)
c.1777A>C
n.1545A>C
c.1803A>C (p.Ile601=)
c.1647A>C (p.Ile549=)
c.1770A>C (p.Ile590=)
c.1260A>C (p.Ile420=)
c.1437A>C (p.Ile479=)
c.1431A>C (p.Ile477=)
c.972A>C (p.Ile324=)
c.501A>C (p.Ile167=)
n.1933A>C
n.2100A>C
c.1848A>C (p.Ile616=)
c.540A>C (p.Ile180=)
n.2150A>C
n.2123A>C
8g.141168254A>GCA372344005DENND3c.2004A>G (p.Ile668Met)
c.1764A>G (p.Ile588Met)
c.1608A>G (p.Ile536Met)
c.1777A>G
n.1545A>G
c.1803A>G (p.Ile601Met)
c.1647A>G (p.Ile549Met)
c.1770A>G (p.Ile590Met)
c.1260A>G (p.Ile420Met)
c.1437A>G (p.Ile479Met)
c.1431A>G (p.Ile477Met)
c.972A>G (p.Ile324Met)
c.501A>G (p.Ile167Met)
n.1933A>G
n.2100A>G
c.1848A>G (p.Ile616Met)
c.540A>G (p.Ile180Met)
n.2150A>G
n.2123A>G
8g.141168254A>TCA463493717DENND3c.2004A>T (p.Ile668=)
c.1764A>T (p.Ile588=)
c.1608A>T (p.Ile536=)
c.1777A>T
n.1545A>T
c.1803A>T (p.Ile601=)
c.1647A>T (p.Ile549=)
c.1770A>T (p.Ile590=)
c.1260A>T (p.Ile420=)
c.1437A>T (p.Ile479=)
c.1431A>T (p.Ile477=)
c.972A>T (p.Ile324=)
c.501A>T (p.Ile167=)
n.1933A>T
n.2100A>T
c.1848A>T (p.Ile616=)
c.540A>T (p.Ile180=)
n.2150A>T
n.2123A>T
 dbSNP
8g.141168255C>ACA463493722DENND3c.2005C>A (p.Arg669=)
c.1765C>A (p.Arg589=)
c.1609C>A (p.Arg537=)
c.1778C>A
n.1546C>A
c.1804C>A (p.Arg602=)
c.1648C>A (p.Arg550=)
c.1771C>A (p.Arg591=)
c.1261C>A (p.Arg421=)
c.1438C>A (p.Arg480=)
c.1432C>A (p.Arg478=)
c.973C>A (p.Arg325=)
c.502C>A (p.Arg168=)
n.1934C>A
n.2101C>A
c.1849C>A (p.Arg617=)
c.541C>A (p.Arg181=)
n.2151C>A
n.2124C>A
 COSMIC
8g.141168255C>GCA372344006DENND3c.2005C>G (p.Arg669Gly)
c.1765C>G (p.Arg589Gly)
c.1609C>G (p.Arg537Gly)
c.1778C>G
n.1546C>G
c.1804C>G (p.Arg602Gly)
c.1648C>G (p.Arg550Gly)
c.1771C>G (p.Arg591Gly)
c.1261C>G (p.Arg421Gly)
c.1438C>G (p.Arg480Gly)
c.1432C>G (p.Arg478Gly)
c.973C>G (p.Arg325Gly)
c.502C>G (p.Arg168Gly)
n.1934C>G
n.2101C>G
c.1849C>G (p.Arg617Gly)
c.541C>G (p.Arg181Gly)
n.2151C>G
n.2124C>G
8g.141168255C>TCA372344007DENND3c.2005C>T (p.Arg669Trp)
c.1765C>T (p.Arg589Trp)
c.1609C>T (p.Arg537Trp)
c.1778C>T
n.1546C>T
c.1804C>T (p.Arg602Trp)
c.1648C>T (p.Arg550Trp)
c.1771C>T (p.Arg591Trp)
c.1261C>T (p.Arg421Trp)
c.1438C>T (p.Arg480Trp)
c.1432C>T (p.Arg478Trp)
c.973C>T (p.Arg325Trp)
c.502C>T (p.Arg168Trp)
n.1934C>T
n.2101C>T
c.1849C>T (p.Arg617Trp)
c.541C>T (p.Arg181Trp)
n.2151C>T
n.2124C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.141168256G>ACA4896789DENND3c.2006G>A (p.Arg669Gln)
c.1766G>A (p.Arg589Gln)
c.1610G>A (p.Arg537Gln)
c.1779G>A
n.1547G>A
c.1805G>A (p.Arg602Gln)
c.1649G>A (p.Arg550Gln)
c.1772G>A (p.Arg591Gln)
c.1262G>A (p.Arg421Gln)
c.1439G>A (p.Arg480Gln)
c.1433G>A (p.Arg478Gln)
c.974G>A (p.Arg325Gln)
c.503G>A (p.Arg168Gln)
n.1935G>A
n.2102G>A
c.1850G>A (p.Arg617Gln)
c.542G>A (p.Arg181Gln)
n.2152G>A
n.2125G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168256G>CCA372344008DENND3c.2006G>C (p.Arg669Pro)
c.1766G>C (p.Arg589Pro)
c.1610G>C (p.Arg537Pro)
c.1779G>C
n.1547G>C
c.1805G>C (p.Arg602Pro)
c.1649G>C (p.Arg550Pro)
c.1772G>C (p.Arg591Pro)
c.1262G>C (p.Arg421Pro)
c.1439G>C (p.Arg480Pro)
c.1433G>C (p.Arg478Pro)
c.974G>C (p.Arg325Pro)
c.503G>C (p.Arg168Pro)
n.1935G>C
n.2102G>C
c.1850G>C (p.Arg617Pro)
c.542G>C (p.Arg181Pro)
n.2152G>C
n.2125G>C
8g.141168256G>TCA372344009DENND3c.2006G>T (p.Arg669Leu)
c.1766G>T (p.Arg589Leu)
c.1610G>T (p.Arg537Leu)
c.1779G>T
n.1547G>T
c.1805G>T (p.Arg602Leu)
c.1649G>T (p.Arg550Leu)
c.1772G>T (p.Arg591Leu)
c.1262G>T (p.Arg421Leu)
c.1439G>T (p.Arg480Leu)
c.1433G>T (p.Arg478Leu)
c.974G>T (p.Arg325Leu)
c.503G>T (p.Arg168Leu)
n.1935G>T
n.2102G>T
c.1850G>T (p.Arg617Leu)
c.542G>T (p.Arg181Leu)
n.2152G>T
n.2125G>T
8g.141168257G>ACA463493727DENND3c.2007G>A (p.Arg669=)
c.1767G>A (p.Arg589=)
c.1611G>A (p.Arg537=)
c.1780G>A
n.1548G>A
c.1806G>A (p.Arg602=)
c.1650G>A (p.Arg550=)
c.1773G>A (p.Arg591=)
c.1263G>A (p.Arg421=)
c.1440G>A (p.Arg480=)
c.1434G>A (p.Arg478=)
c.975G>A (p.Arg325=)
c.504G>A (p.Arg168=)
n.1936G>A
n.2103G>A
c.1851G>A (p.Arg617=)
c.543G>A (p.Arg181=)
n.2153G>A
n.2126G>A
 gnomAD v4
8g.141168257G>CCA463493729DENND3c.2007G>C (p.Arg669=)
c.1767G>C (p.Arg589=)
c.1611G>C (p.Arg537=)
c.1780G>C
n.1548G>C
c.1806G>C (p.Arg602=)
c.1650G>C (p.Arg550=)
c.1773G>C (p.Arg591=)
c.1263G>C (p.Arg421=)
c.1440G>C (p.Arg480=)
c.1434G>C (p.Arg478=)
c.975G>C (p.Arg325=)
c.504G>C (p.Arg168=)
n.1936G>C
n.2103G>C
c.1851G>C (p.Arg617=)
c.543G>C (p.Arg181=)
n.2153G>C
n.2126G>C
8g.141168257G>TCA463493731DENND3c.2007G>T (p.Arg669=)
c.1767G>T (p.Arg589=)
c.1611G>T (p.Arg537=)
c.1780G>T
n.1548G>T
c.1806G>T (p.Arg602=)
c.1650G>T (p.Arg550=)
c.1773G>T (p.Arg591=)
c.1263G>T (p.Arg421=)
c.1440G>T (p.Arg480=)
c.1434G>T (p.Arg478=)
c.975G>T (p.Arg325=)
c.504G>T (p.Arg168=)
n.1936G>T
n.2103G>T
c.1851G>T (p.Arg617=)
c.543G>T (p.Arg181=)
n.2153G>T
n.2126G>T
8g.141168258A>CCA372344010DENND3c.2008A>C (p.Ile670Leu)
c.1768A>C (p.Ile590Leu)
c.1612A>C (p.Ile538Leu)
c.1781A>C
n.1549A>C
c.1807A>C (p.Ile603Leu)
c.1651A>C (p.Ile551Leu)
c.1774A>C (p.Ile592Leu)
c.1264A>C (p.Ile422Leu)
c.1441A>C (p.Ile481Leu)
c.1435A>C (p.Ile479Leu)
c.976A>C (p.Ile326Leu)
c.505A>C (p.Ile169Leu)
n.1937A>C
n.2104A>C
c.1852A>C (p.Ile618Leu)
c.544A>C (p.Ile182Leu)
n.2154A>C
n.2127A>C
 dbSNP gnomAD v3 gnomAD v4
8g.141168258A>GCA372344011DENND3c.2008A>G (p.Ile670Val)
c.1768A>G (p.Ile590Val)
c.1612A>G (p.Ile538Val)
c.1781A>G
n.1549A>G
c.1807A>G (p.Ile603Val)
c.1651A>G (p.Ile551Val)
c.1774A>G (p.Ile592Val)
c.1264A>G (p.Ile422Val)
c.1441A>G (p.Ile481Val)
c.1435A>G (p.Ile479Val)
c.976A>G (p.Ile326Val)
c.505A>G (p.Ile169Val)
n.1937A>G
n.2104A>G
c.1852A>G (p.Ile618Val)
c.544A>G (p.Ile182Val)
n.2154A>G
n.2127A>G
8g.141168258A>TCA372344012DENND3c.2008A>T (p.Ile670Phe)
c.1768A>T (p.Ile590Phe)
c.1612A>T (p.Ile538Phe)
c.1781A>T
n.1549A>T
c.1807A>T (p.Ile603Phe)
c.1651A>T (p.Ile551Phe)
c.1774A>T (p.Ile592Phe)
c.1264A>T (p.Ile422Phe)
c.1441A>T (p.Ile481Phe)
c.1435A>T (p.Ile479Phe)
c.976A>T (p.Ile326Phe)
c.505A>T (p.Ile169Phe)
n.1937A>T
n.2104A>T
c.1852A>T (p.Ile618Phe)
c.544A>T (p.Ile182Phe)
n.2154A>T
n.2127A>T
8g.141168259T>ACA372344013DENND3c.2009T>A (p.Ile670Asn)
c.1769T>A (p.Ile590Asn)
c.1613T>A (p.Ile538Asn)
c.1782T>A
n.1550T>A
c.1808T>A (p.Ile603Asn)
c.1652T>A (p.Ile551Asn)
c.1775T>A (p.Ile592Asn)
c.1265T>A (p.Ile422Asn)
c.1442T>A (p.Ile481Asn)
c.1436T>A (p.Ile479Asn)
c.977T>A (p.Ile326Asn)
c.506T>A (p.Ile169Asn)
n.1938T>A
n.2105T>A
c.1853T>A (p.Ile618Asn)
c.545T>A (p.Ile182Asn)
n.2155T>A
n.2128T>A
8g.141168259T>CCA372344014DENND3c.2009T>C (p.Ile670Thr)
c.1769T>C (p.Ile590Thr)
c.1613T>C (p.Ile538Thr)
c.1782T>C
n.1550T>C
c.1808T>C (p.Ile603Thr)
c.1652T>C (p.Ile551Thr)
c.1775T>C (p.Ile592Thr)
c.1265T>C (p.Ile422Thr)
c.1442T>C (p.Ile481Thr)
c.1436T>C (p.Ile479Thr)
c.977T>C (p.Ile326Thr)
c.506T>C (p.Ile169Thr)
n.1938T>C
n.2105T>C
c.1853T>C (p.Ile618Thr)
c.545T>C (p.Ile182Thr)
n.2155T>C
n.2128T>C
8g.141168259T>GCA372344015DENND3c.2009T>G (p.Ile670Ser)
c.1769T>G (p.Ile590Ser)
c.1613T>G (p.Ile538Ser)
c.1782T>G
n.1550T>G
c.1808T>G (p.Ile603Ser)
c.1652T>G (p.Ile551Ser)
c.1775T>G (p.Ile592Ser)
c.1265T>G (p.Ile422Ser)
c.1442T>G (p.Ile481Ser)
c.1436T>G (p.Ile479Ser)
c.977T>G (p.Ile326Ser)
c.506T>G (p.Ile169Ser)
n.1938T>G
n.2105T>G
c.1853T>G (p.Ile618Ser)
c.545T>G (p.Ile182Ser)
n.2155T>G
n.2128T>G
8g.141168260C>ACA463493740DENND3c.2010C>A (p.Ile670=)
c.1770C>A (p.Ile590=)
c.1614C>A (p.Ile538=)
c.1783C>A
n.1551C>A
c.1809C>A (p.Ile603=)
c.1653C>A (p.Ile551=)
c.1776C>A (p.Ile592=)
c.1266C>A (p.Ile422=)
c.1443C>A (p.Ile481=)
c.1437C>A (p.Ile479=)
c.978C>A (p.Ile326=)
c.507C>A (p.Ile169=)
n.1939C>A
n.2106C>A
c.1854C>A (p.Ile618=)
c.546C>A (p.Ile182=)
n.2156C>A
n.2129C>A
8g.141168260C>GCA372344016DENND3c.2010C>G (p.Ile670Met)
c.1770C>G (p.Ile590Met)
c.1614C>G (p.Ile538Met)
c.1783C>G
n.1551C>G
c.1809C>G (p.Ile603Met)
c.1653C>G (p.Ile551Met)
c.1776C>G (p.Ile592Met)
c.1266C>G (p.Ile422Met)
c.1443C>G (p.Ile481Met)
c.1437C>G (p.Ile479Met)
c.978C>G (p.Ile326Met)
c.507C>G (p.Ile169Met)
n.1939C>G
n.2106C>G
c.1854C>G (p.Ile618Met)
c.546C>G (p.Ile182Met)
n.2156C>G
n.2129C>G
8g.141168260C>TCA187325740DENND3c.2010C>T (p.Ile670=)
c.1770C>T (p.Ile590=)
c.1614C>T (p.Ile538=)
c.1783C>T
n.1551C>T
c.1809C>T (p.Ile603=)
c.1653C>T (p.Ile551=)
c.1776C>T (p.Ile592=)
c.1266C>T (p.Ile422=)
c.1443C>T (p.Ile481=)
c.1437C>T (p.Ile479=)
c.978C>T (p.Ile326=)
c.507C>T (p.Ile169=)
n.1939C>T
n.2106C>T
c.1854C>T (p.Ile618=)
c.546C>T (p.Ile182=)
n.2156C>T
n.2129C>T
 dbSNP gnomAD v4
8g.141168261T>ACA372344017DENND3c.2011T>A (p.Phe671Ile)
c.1771T>A (p.Phe591Ile)
c.1615T>A (p.Phe539Ile)
c.1784T>A
n.1552T>A
c.1810T>A (p.Phe604Ile)
c.1654T>A (p.Phe552Ile)
c.1777T>A (p.Phe593Ile)
c.1267T>A (p.Phe423Ile)
c.1444T>A (p.Phe482Ile)
c.1438T>A (p.Phe480Ile)
c.979T>A (p.Phe327Ile)
c.508T>A (p.Phe170Ile)
n.1940T>A
n.2107T>A
c.1855T>A (p.Phe619Ile)
c.547T>A (p.Phe183Ile)
n.2157T>A
n.2130T>A
8g.141168261T>CCA372344019DENND3c.2011T>C (p.Phe671Leu)
c.1771T>C (p.Phe591Leu)
c.1615T>C (p.Phe539Leu)
c.1784T>C
n.1552T>C
c.1810T>C (p.Phe604Leu)
c.1654T>C (p.Phe552Leu)
c.1777T>C (p.Phe593Leu)
c.1267T>C (p.Phe423Leu)
c.1444T>C (p.Phe482Leu)
c.1438T>C (p.Phe480Leu)
c.979T>C (p.Phe327Leu)
c.508T>C (p.Phe170Leu)
n.1940T>C
n.2107T>C
c.1855T>C (p.Phe619Leu)
c.547T>C (p.Phe183Leu)
n.2157T>C
n.2130T>C
8g.141168261T>GCA372344018DENND3c.2011T>G (p.Phe671Val)
c.1771T>G (p.Phe591Val)
c.1615T>G (p.Phe539Val)
c.1784T>G
n.1552T>G
c.1810T>G (p.Phe604Val)
c.1654T>G (p.Phe552Val)
c.1777T>G (p.Phe593Val)
c.1267T>G (p.Phe423Val)
c.1444T>G (p.Phe482Val)
c.1438T>G (p.Phe480Val)
c.979T>G (p.Phe327Val)
c.508T>G (p.Phe170Val)
n.1940T>G
n.2107T>G
c.1855T>G (p.Phe619Val)
c.547T>G (p.Phe183Val)
n.2157T>G
n.2130T>G
 gnomAD v4
8g.141168262T>ACA372344020DENND3c.2012T>A (p.Phe671Tyr)
c.1772T>A (p.Phe591Tyr)
c.1616T>A (p.Phe539Tyr)
c.1785T>A
n.1553T>A
c.1811T>A (p.Phe604Tyr)
c.1655T>A (p.Phe552Tyr)
c.1778T>A (p.Phe593Tyr)
c.1268T>A (p.Phe423Tyr)
c.1445T>A (p.Phe482Tyr)
c.1439T>A (p.Phe480Tyr)
c.980T>A (p.Phe327Tyr)
c.509T>A (p.Phe170Tyr)
n.1941T>A
n.2108T>A
c.1856T>A (p.Phe619Tyr)
c.548T>A (p.Phe183Tyr)
n.2158T>A
n.2131T>A
8g.141168262T>CCA372344022DENND3c.2012T>C (p.Phe671Ser)
c.1772T>C (p.Phe591Ser)
c.1616T>C (p.Phe539Ser)
c.1785T>C
n.1553T>C
c.1811T>C (p.Phe604Ser)
c.1655T>C (p.Phe552Ser)
c.1778T>C (p.Phe593Ser)
c.1268T>C (p.Phe423Ser)
c.1445T>C (p.Phe482Ser)
c.1439T>C (p.Phe480Ser)
c.980T>C (p.Phe327Ser)
c.509T>C (p.Phe170Ser)
n.1941T>C
n.2108T>C
c.1856T>C (p.Phe619Ser)
c.548T>C (p.Phe183Ser)
n.2158T>C
n.2131T>C
 gnomAD v4
8g.141168262T>GCA372344021DENND3c.2012T>G (p.Phe671Cys)
c.1772T>G (p.Phe591Cys)
c.1616T>G (p.Phe539Cys)
c.1785T>G
n.1553T>G
c.1811T>G (p.Phe604Cys)
c.1655T>G (p.Phe552Cys)
c.1778T>G (p.Phe593Cys)
c.1268T>G (p.Phe423Cys)
c.1445T>G (p.Phe482Cys)
c.1439T>G (p.Phe480Cys)
c.980T>G (p.Phe327Cys)
c.509T>G (p.Phe170Cys)
n.1941T>G
n.2108T>G
c.1856T>G (p.Phe619Cys)
c.548T>G (p.Phe183Cys)
n.2158T>G
n.2131T>G
8g.141168263T>ACA372344023DENND3c.2013T>A (p.Phe671Leu)
c.1773T>A (p.Phe591Leu)
c.1617T>A (p.Phe539Leu)
c.1786T>A
n.1554T>A
c.1812T>A (p.Phe604Leu)
c.1656T>A (p.Phe552Leu)
c.1779T>A (p.Phe593Leu)
c.1269T>A (p.Phe423Leu)
c.1446T>A (p.Phe482Leu)
c.1440T>A (p.Phe480Leu)
c.981T>A (p.Phe327Leu)
c.510T>A (p.Phe170Leu)
n.1942T>A
n.2109T>A
c.1857T>A (p.Phe619Leu)
c.549T>A (p.Phe183Leu)
n.2159T>A
n.2132T>A
8g.141168263T>CCA463493752DENND3c.2013T>C (p.Phe671=)
c.1773T>C (p.Phe591=)
c.1617T>C (p.Phe539=)
c.1786T>C
n.1554T>C
c.1812T>C (p.Phe604=)
c.1656T>C (p.Phe552=)
c.1779T>C (p.Phe593=)
c.1269T>C (p.Phe423=)
c.1446T>C (p.Phe482=)
c.1440T>C (p.Phe480=)
c.981T>C (p.Phe327=)
c.510T>C (p.Phe170=)
n.1942T>C
n.2109T>C
c.1857T>C (p.Phe619=)
c.549T>C (p.Phe183=)
n.2159T>C
n.2132T>C
8g.141168263T>GCA372344024DENND3c.2013T>G (p.Phe671Leu)
c.1773T>G (p.Phe591Leu)
c.1617T>G (p.Phe539Leu)
c.1786T>G
n.1554T>G
c.1812T>G (p.Phe604Leu)
c.1656T>G (p.Phe552Leu)
c.1779T>G (p.Phe593Leu)
c.1269T>G (p.Phe423Leu)
c.1446T>G (p.Phe482Leu)
c.1440T>G (p.Phe480Leu)
c.981T>G (p.Phe327Leu)
c.510T>G (p.Phe170Leu)
n.1942T>G
n.2109T>G
c.1857T>G (p.Phe619Leu)
c.549T>G (p.Phe183Leu)
n.2159T>G
n.2132T>G
 gnomAD v4
8g.141168264C>ACA372344026DENND3c.2014C>A (p.Pro672Thr)
c.1774C>A (p.Pro592Thr)
c.1618C>A (p.Pro540Thr)
c.1787C>A
n.1555C>A
c.1813C>A (p.Pro605Thr)
c.1657C>A (p.Pro553Thr)
c.1780C>A (p.Pro594Thr)
c.1270C>A (p.Pro424Thr)
c.1447C>A (p.Pro483Thr)
c.1441C>A (p.Pro481Thr)
c.982C>A (p.Pro328Thr)
c.511C>A (p.Pro171Thr)
n.1943C>A
n.2110C>A
c.1858C>A (p.Pro620Thr)
c.550C>A (p.Pro184Thr)
n.2160C>A
n.2133C>A
8g.141168264C>GCA372344027DENND3c.2014C>G (p.Pro672Ala)
c.1774C>G (p.Pro592Ala)
c.1618C>G (p.Pro540Ala)
c.1787C>G
n.1555C>G
c.1813C>G (p.Pro605Ala)
c.1657C>G (p.Pro553Ala)
c.1780C>G (p.Pro594Ala)
c.1270C>G (p.Pro424Ala)
c.1447C>G (p.Pro483Ala)
c.1441C>G (p.Pro481Ala)
c.982C>G (p.Pro328Ala)
c.511C>G (p.Pro171Ala)
n.1943C>G
n.2110C>G
c.1858C>G (p.Pro620Ala)
c.550C>G (p.Pro184Ala)
n.2160C>G
n.2133C>G
 gnomAD v4
8g.141168264C>TCA372344025DENND3c.2014C>T (p.Pro672Ser)
c.1774C>T (p.Pro592Ser)
c.1618C>T (p.Pro540Ser)
c.1787C>T
n.1555C>T
c.1813C>T (p.Pro605Ser)
c.1657C>T (p.Pro553Ser)
c.1780C>T (p.Pro594Ser)
c.1270C>T (p.Pro424Ser)
c.1447C>T (p.Pro483Ser)
c.1441C>T (p.Pro481Ser)
c.982C>T (p.Pro328Ser)
c.511C>T (p.Pro171Ser)
n.1943C>T
n.2110C>T
c.1858C>T (p.Pro620Ser)
c.550C>T (p.Pro184Ser)
n.2160C>T
n.2133C>T
8g.141168266dupCA4896790DENND3c.2016dup (p.Thr673HisfsTer2)
c.1776dup (p.Thr593HisfsTer2)
c.1620dup (p.Thr541HisfsTer2)
c.1789dup
n.1557dup
c.1815dup (p.Thr606HisfsTer2)
c.1659dup (p.Thr554HisfsTer2)
c.1782dup (p.Thr595HisfsTer2)
c.1272dup (p.Thr425HisfsTer2)
c.1449dup (p.Thr484HisfsTer2)
c.1443dup (p.Thr482HisfsTer2)
c.984dup (p.Thr329HisfsTer2)
c.513dup (p.Thr172HisfsTer2)
n.1945dup
n.2112dup
c.1860dup (p.Thr621HisfsTer2)
c.552dup (p.Thr185HisfsTer2)
n.2162dup
n.2135dup
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168265C>ACA372344028DENND3c.2015C>A (p.Pro672His)
c.1775C>A (p.Pro592His)
c.1619C>A (p.Pro540His)
c.1788C>A
n.1556C>A
c.1814C>A (p.Pro605His)
c.1658C>A (p.Pro553His)
c.1781C>A (p.Pro594His)
c.1271C>A (p.Pro424His)
c.1448C>A (p.Pro483His)
c.1442C>A (p.Pro481His)
c.983C>A (p.Pro328His)
c.512C>A (p.Pro171His)
n.1944C>A
n.2111C>A
c.1859C>A (p.Pro620His)
c.551C>A (p.Pro184His)
n.2161C>A
n.2134C>A
8g.141168265C>GCA372344029DENND3c.2015C>G (p.Pro672Arg)
c.1775C>G (p.Pro592Arg)
c.1619C>G (p.Pro540Arg)
c.1788C>G
n.1556C>G
c.1814C>G (p.Pro605Arg)
c.1658C>G (p.Pro553Arg)
c.1781C>G (p.Pro594Arg)
c.1271C>G (p.Pro424Arg)
c.1448C>G (p.Pro483Arg)
c.1442C>G (p.Pro481Arg)
c.983C>G (p.Pro328Arg)
c.512C>G (p.Pro171Arg)
n.1944C>G
n.2111C>G
c.1859C>G (p.Pro620Arg)
c.551C>G (p.Pro184Arg)
n.2161C>G
n.2134C>G
8g.141168265C>TCA372344030DENND3c.2015C>T (p.Pro672Leu)
c.1775C>T (p.Pro592Leu)
c.1619C>T (p.Pro540Leu)
c.1788C>T
n.1556C>T
c.1814C>T (p.Pro605Leu)
c.1658C>T (p.Pro553Leu)
c.1781C>T (p.Pro594Leu)
c.1271C>T (p.Pro424Leu)
c.1448C>T (p.Pro483Leu)
c.1442C>T (p.Pro481Leu)
c.983C>T (p.Pro328Leu)
c.512C>T (p.Pro171Leu)
n.1944C>T
n.2111C>T
c.1859C>T (p.Pro620Leu)
c.551C>T (p.Pro184Leu)
n.2161C>T
n.2134C>T
 dbSNP
8g.141168266C>ACA463493761DENND3c.2016C>A (p.Pro672=)
c.1776C>A (p.Pro592=)
c.1620C>A (p.Pro540=)
c.1789C>A
n.1557C>A
c.1815C>A (p.Pro605=)
c.1659C>A (p.Pro553=)
c.1782C>A (p.Pro594=)
c.1272C>A (p.Pro424=)
c.1449C>A (p.Pro483=)
c.1443C>A (p.Pro481=)
c.984C>A (p.Pro328=)
c.513C>A (p.Pro171=)
n.1945C>A
n.2112C>A
c.1860C>A (p.Pro620=)
c.552C>A (p.Pro184=)
n.2162C>A
n.2135C>A
8g.141168266C>GCA463493762DENND3c.2016C>G (p.Pro672=)
c.1776C>G (p.Pro592=)
c.1620C>G (p.Pro540=)
c.1789C>G
n.1557C>G
c.1815C>G (p.Pro605=)
c.1659C>G (p.Pro553=)
c.1782C>G (p.Pro594=)
c.1272C>G (p.Pro424=)
c.1449C>G (p.Pro483=)
c.1443C>G (p.Pro481=)
c.984C>G (p.Pro328=)
c.513C>G (p.Pro171=)
n.1945C>G
n.2112C>G
c.1860C>G (p.Pro620=)
c.552C>G (p.Pro184=)
n.2162C>G
n.2135C>G
8g.141168266C>TCA463493764DENND3c.2016C>T (p.Pro672=)
c.1776C>T (p.Pro592=)
c.1620C>T (p.Pro540=)
c.1789C>T
n.1557C>T
c.1815C>T (p.Pro605=)
c.1659C>T (p.Pro553=)
c.1782C>T (p.Pro594=)
c.1272C>T (p.Pro424=)
c.1449C>T (p.Pro483=)
c.1443C>T (p.Pro481=)
c.984C>T (p.Pro328=)
c.513C>T (p.Pro171=)
n.1945C>T
n.2112C>T
c.1860C>T (p.Pro620=)
c.552C>T (p.Pro184=)
n.2162C>T
n.2135C>T
8g.141168267A>CCA372344031DENND3c.2017A>C (p.Thr673Pro)
c.1777A>C (p.Thr593Pro)
c.1621A>C (p.Thr541Pro)
c.1790A>C
n.1558A>C
c.1816A>C (p.Thr606Pro)
c.1660A>C (p.Thr554Pro)
c.1783A>C (p.Thr595Pro)
c.1273A>C (p.Thr425Pro)
c.1450A>C (p.Thr484Pro)
c.1444A>C (p.Thr482Pro)
c.985A>C (p.Thr329Pro)
c.514A>C (p.Thr172Pro)
n.1946A>C
n.2113A>C
c.1861A>C (p.Thr621Pro)
c.553A>C (p.Thr185Pro)
n.2163A>C
n.2136A>C
8g.141168267A>GCA372344032DENND3c.2017A>G (p.Thr673Ala)
c.1777A>G (p.Thr593Ala)
c.1621A>G (p.Thr541Ala)
c.1790A>G
n.1558A>G
c.1816A>G (p.Thr606Ala)
c.1660A>G (p.Thr554Ala)
c.1783A>G (p.Thr595Ala)
c.1273A>G (p.Thr425Ala)
c.1450A>G (p.Thr484Ala)
c.1444A>G (p.Thr482Ala)
c.985A>G (p.Thr329Ala)
c.514A>G (p.Thr172Ala)
n.1946A>G
n.2113A>G
c.1861A>G (p.Thr621Ala)
c.553A>G (p.Thr185Ala)
n.2163A>G
n.2136A>G
 gnomAD v4
8g.141168267A>TCA372344033DENND3c.2017A>T (p.Thr673Ser)
c.1777A>T (p.Thr593Ser)
c.1621A>T (p.Thr541Ser)
c.1790A>T
n.1558A>T
c.1816A>T (p.Thr606Ser)
c.1660A>T (p.Thr554Ser)
c.1783A>T (p.Thr595Ser)
c.1273A>T (p.Thr425Ser)
c.1450A>T (p.Thr484Ser)
c.1444A>T (p.Thr482Ser)
c.985A>T (p.Thr329Ser)
c.514A>T (p.Thr172Ser)
n.1946A>T
n.2113A>T
c.1861A>T (p.Thr621Ser)
c.553A>T (p.Thr185Ser)
n.2163A>T
n.2136A>T
8g.141168268C>ACA372344034DENND3c.2018C>A (p.Thr673Asn)
c.1778C>A (p.Thr593Asn)
c.1622C>A (p.Thr541Asn)
c.1791C>A
n.1559C>A
c.1817C>A (p.Thr606Asn)
c.1661C>A (p.Thr554Asn)
c.1784C>A (p.Thr595Asn)
c.1274C>A (p.Thr425Asn)
c.1451C>A (p.Thr484Asn)
c.1445C>A (p.Thr482Asn)
c.986C>A (p.Thr329Asn)
c.515C>A (p.Thr172Asn)
n.1947C>A
n.2114C>A
c.1862C>A (p.Thr621Asn)
c.554C>A (p.Thr185Asn)
n.2164C>A
n.2137C>A
8g.141168268C>GCA372344035DENND3c.2018C>G (p.Thr673Ser)
c.1778C>G (p.Thr593Ser)
c.1622C>G (p.Thr541Ser)
c.1791C>G
n.1559C>G
c.1817C>G (p.Thr606Ser)
c.1661C>G (p.Thr554Ser)
c.1784C>G (p.Thr595Ser)
c.1274C>G (p.Thr425Ser)
c.1451C>G (p.Thr484Ser)
c.1445C>G (p.Thr482Ser)
c.986C>G (p.Thr329Ser)
c.515C>G (p.Thr172Ser)
n.1947C>G
n.2114C>G
c.1862C>G (p.Thr621Ser)
c.554C>G (p.Thr185Ser)
n.2164C>G
n.2137C>G
8g.141168268C>TCA372344036DENND3c.2018C>T (p.Thr673Ile)
c.1778C>T (p.Thr593Ile)
c.1622C>T (p.Thr541Ile)
c.1791C>T
n.1559C>T
c.1817C>T (p.Thr606Ile)
c.1661C>T (p.Thr554Ile)
c.1784C>T (p.Thr595Ile)
c.1274C>T (p.Thr425Ile)
c.1451C>T (p.Thr484Ile)
c.1445C>T (p.Thr482Ile)
c.986C>T (p.Thr329Ile)
c.515C>T (p.Thr172Ile)
n.1947C>T
n.2114C>T
c.1862C>T (p.Thr621Ile)
c.554C>T (p.Thr185Ile)
n.2164C>T
n.2137C>T
8g.141168269T>ACA463493773DENND3c.2019T>A (p.Thr673=)
c.1779T>A (p.Thr593=)
c.1623T>A (p.Thr541=)
c.1792T>A
n.1560T>A
c.1818T>A (p.Thr606=)
c.1662T>A (p.Thr554=)
c.1785T>A (p.Thr595=)
c.1275T>A (p.Thr425=)
c.1452T>A (p.Thr484=)
c.1446T>A (p.Thr482=)
c.987T>A (p.Thr329=)
c.516T>A (p.Thr172=)
n.1948T>A
n.2115T>A
c.1863T>A (p.Thr621=)
c.555T>A (p.Thr185=)
n.2165T>A
n.2138T>A
8g.141168269T>CCA463493775DENND3c.2019T>C (p.Thr673=)
c.1779T>C (p.Thr593=)
c.1623T>C (p.Thr541=)
c.1792T>C
n.1560T>C
c.1818T>C (p.Thr606=)
c.1662T>C (p.Thr554=)
c.1785T>C (p.Thr595=)
c.1275T>C (p.Thr425=)
c.1452T>C (p.Thr484=)
c.1446T>C (p.Thr482=)
c.987T>C (p.Thr329=)
c.516T>C (p.Thr172=)
n.1948T>C
n.2115T>C
c.1863T>C (p.Thr621=)
c.555T>C (p.Thr185=)
n.2165T>C
n.2138T>C
8g.141168269T>GCA463493777DENND3c.2019T>G (p.Thr673=)
c.1779T>G (p.Thr593=)
c.1623T>G (p.Thr541=)
c.1792T>G
n.1560T>G
c.1818T>G (p.Thr606=)
c.1662T>G (p.Thr554=)
c.1785T>G (p.Thr595=)
c.1275T>G (p.Thr425=)
c.1452T>G (p.Thr484=)
c.1446T>G (p.Thr482=)
c.987T>G (p.Thr329=)
c.516T>G (p.Thr172=)
n.1948T>G
n.2115T>G
c.1863T>G (p.Thr621=)
c.555T>G (p.Thr185=)
n.2165T>G
n.2138T>G
 gnomAD v4
8g.141168270G>ACA372344037DENND3c.2020G>A (p.Asp674Asn)
c.1780G>A (p.Asp594Asn)
c.1624G>A (p.Asp542Asn)
c.1793G>A
n.1561G>A
c.1819G>A (p.Asp607Asn)
c.1663G>A (p.Asp555Asn)
c.1786G>A (p.Asp596Asn)
c.1276G>A (p.Asp426Asn)
c.1453G>A (p.Asp485Asn)
c.1447G>A (p.Asp483Asn)
c.988G>A (p.Asp330Asn)
c.517G>A (p.Asp173Asn)
n.1949G>A
n.2116G>A
c.1864G>A (p.Asp622Asn)
c.556G>A (p.Asp186Asn)
n.2166G>A
n.2139G>A
 gnomAD v4
8g.141168270G>CCA372344038DENND3c.2020G>C (p.Asp674His)
c.1780G>C (p.Asp594His)
c.1624G>C (p.Asp542His)
c.1793G>C
n.1561G>C
c.1819G>C (p.Asp607His)
c.1663G>C (p.Asp555His)
c.1786G>C (p.Asp596His)
c.1276G>C (p.Asp426His)
c.1453G>C (p.Asp485His)
c.1447G>C (p.Asp483His)
c.988G>C (p.Asp330His)
c.517G>C (p.Asp173His)
n.1949G>C
n.2116G>C
c.1864G>C (p.Asp622His)
c.556G>C (p.Asp186His)
n.2166G>C
n.2139G>C
8g.141168270G>TCA372344039DENND3c.2020G>T (p.Asp674Tyr)
c.1780G>T (p.Asp594Tyr)
c.1624G>T (p.Asp542Tyr)
c.1793G>T
n.1561G>T
c.1819G>T (p.Asp607Tyr)
c.1663G>T (p.Asp555Tyr)
c.1786G>T (p.Asp596Tyr)
c.1276G>T (p.Asp426Tyr)
c.1453G>T (p.Asp485Tyr)
c.1447G>T (p.Asp483Tyr)
c.988G>T (p.Asp330Tyr)
c.517G>T (p.Asp173Tyr)
n.1949G>T
n.2116G>T
c.1864G>T (p.Asp622Tyr)
c.556G>T (p.Asp186Tyr)
n.2166G>T
n.2139G>T
8g.141168271A>CCA372344042DENND3c.2021A>C (p.Asp674Ala)
c.1781A>C (p.Asp594Ala)
c.1625A>C (p.Asp542Ala)
c.1794A>C
n.1562A>C
c.1820A>C (p.Asp607Ala)
c.1664A>C (p.Asp555Ala)
c.1787A>C (p.Asp596Ala)
c.1277A>C (p.Asp426Ala)
c.1454A>C (p.Asp485Ala)
c.1448A>C (p.Asp483Ala)
c.989A>C (p.Asp330Ala)
c.518A>C (p.Asp173Ala)
n.1950A>C
n.2117A>C
c.1865A>C (p.Asp622Ala)
c.557A>C (p.Asp186Ala)
n.2167A>C
n.2140A>C
8g.141168271A>GCA372344041DENND3c.2021A>G (p.Asp674Gly)
c.1781A>G (p.Asp594Gly)
c.1625A>G (p.Asp542Gly)
c.1794A>G
n.1562A>G
c.1820A>G (p.Asp607Gly)
c.1664A>G (p.Asp555Gly)
c.1787A>G (p.Asp596Gly)
c.1277A>G (p.Asp426Gly)
c.1454A>G (p.Asp485Gly)
c.1448A>G (p.Asp483Gly)
c.989A>G (p.Asp330Gly)
c.518A>G (p.Asp173Gly)
n.1950A>G
n.2117A>G
c.1865A>G (p.Asp622Gly)
c.557A>G (p.Asp186Gly)
n.2167A>G
n.2140A>G
8g.141168271A>TCA372344040DENND3c.2021A>T (p.Asp674Val)
c.1781A>T (p.Asp594Val)
c.1625A>T (p.Asp542Val)
c.1794A>T
n.1562A>T
c.1820A>T (p.Asp607Val)
c.1664A>T (p.Asp555Val)
c.1787A>T (p.Asp596Val)
c.1277A>T (p.Asp426Val)
c.1454A>T (p.Asp485Val)
c.1448A>T (p.Asp483Val)
c.989A>T (p.Asp330Val)
c.518A>T (p.Asp173Val)
n.1950A>T
n.2117A>T
c.1865A>T (p.Asp622Val)
c.557A>T (p.Asp186Val)
n.2167A>T
n.2140A>T
8g.141168272T>ACA372344043DENND3c.2022T>A (p.Asp674Glu)
c.1782T>A (p.Asp594Glu)
c.1626T>A (p.Asp542Glu)
c.1795T>A
n.1563T>A
c.1821T>A (p.Asp607Glu)
c.1665T>A (p.Asp555Glu)
c.1788T>A (p.Asp596Glu)
c.1278T>A (p.Asp426Glu)
c.1455T>A (p.Asp485Glu)
c.1449T>A (p.Asp483Glu)
c.990T>A (p.Asp330Glu)
c.519T>A (p.Asp173Glu)
n.1951T>A
n.2118T>A
c.1866T>A (p.Asp622Glu)
c.558T>A (p.Asp186Glu)
n.2168T>A
n.2141T>A
8g.141168272T>CCA4896791DENND3c.2022T>C (p.Asp674=)
c.1782T>C (p.Asp594=)
c.1626T>C (p.Asp542=)
c.1795T>C
n.1563T>C
c.1821T>C (p.Asp607=)
c.1665T>C (p.Asp555=)
c.1788T>C (p.Asp596=)
c.1278T>C (p.Asp426=)
c.1455T>C (p.Asp485=)
c.1449T>C (p.Asp483=)
c.990T>C (p.Asp330=)
c.519T>C (p.Asp173=)
n.1951T>C
n.2118T>C
c.1866T>C (p.Asp622=)
c.558T>C (p.Asp186=)
n.2168T>C
n.2141T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168272T>GCA372344044DENND3c.2022T>G (p.Asp674Glu)
c.1782T>G (p.Asp594Glu)
c.1626T>G (p.Asp542Glu)
c.1795T>G
n.1563T>G
c.1821T>G (p.Asp607Glu)
c.1665T>G (p.Asp555Glu)
c.1788T>G (p.Asp596Glu)
c.1278T>G (p.Asp426Glu)
c.1455T>G (p.Asp485Glu)
c.1449T>G (p.Asp483Glu)
c.990T>G (p.Asp330Glu)
c.519T>G (p.Asp173Glu)
n.1951T>G
n.2118T>G
c.1866T>G (p.Asp622Glu)
c.558T>G (p.Asp186Glu)
n.2168T>G
n.2141T>G
8g.141168273T>ACA4896792DENND3c.2023T>A (p.Leu675Met)
c.1783T>A (p.Leu595Met)
c.1627T>A (p.Leu543Met)
c.1796T>A
n.1564T>A
c.1822T>A (p.Leu608Met)
c.1666T>A (p.Leu556Met)
c.1789T>A (p.Leu597Met)
c.1279T>A (p.Leu427Met)
c.1456T>A (p.Leu486Met)
c.1450T>A (p.Leu484Met)
c.991T>A (p.Leu331Met)
c.520T>A (p.Leu174Met)
n.1952T>A
n.2119T>A
c.1867T>A (p.Leu623Met)
c.559T>A (p.Leu187Met)
n.2169T>A
n.2142T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168273T>CCA463493790DENND3c.2023T>C (p.Leu675=)
c.1783T>C (p.Leu595=)
c.1627T>C (p.Leu543=)
c.1796T>C
n.1564T>C
c.1822T>C (p.Leu608=)
c.1666T>C (p.Leu556=)
c.1789T>C (p.Leu597=)
c.1279T>C (p.Leu427=)
c.1456T>C (p.Leu486=)
c.1450T>C (p.Leu484=)
c.991T>C (p.Leu331=)
c.520T>C (p.Leu174=)
n.1952T>C
n.2119T>C
c.1867T>C (p.Leu623=)
c.559T>C (p.Leu187=)
n.2169T>C
n.2142T>C
8g.141168273T>GCA372344045DENND3c.2023T>G (p.Leu675Val)
c.1783T>G (p.Leu595Val)
c.1627T>G (p.Leu543Val)
c.1796T>G
n.1564T>G
c.1822T>G (p.Leu608Val)
c.1666T>G (p.Leu556Val)
c.1789T>G (p.Leu597Val)
c.1279T>G (p.Leu427Val)
c.1456T>G (p.Leu486Val)
c.1450T>G (p.Leu484Val)
c.991T>G (p.Leu331Val)
c.520T>G (p.Leu174Val)
n.1952T>G
n.2119T>G
c.1867T>G (p.Leu623Val)
c.559T>G (p.Leu187Val)
n.2169T>G
n.2142T>G
8g.141168274T>ACA372344046DENND3c.2024T>A (p.Leu675Ter)
c.1784T>A (p.Leu595Ter)
c.1628T>A (p.Leu543Ter)
c.1797T>A
n.1565T>A
c.1823T>A (p.Leu608Ter)
c.1667T>A (p.Leu556Ter)
c.1790T>A (p.Leu597Ter)
c.1280T>A (p.Leu427Ter)
c.1457T>A (p.Leu486Ter)
c.1451T>A (p.Leu484Ter)
c.992T>A (p.Leu331Ter)
c.521T>A (p.Leu174Ter)
n.1953T>A
n.2120T>A
c.1868T>A (p.Leu623Ter)
c.560T>A (p.Leu187Ter)
n.2170T>A
n.2143T>A
8g.141168274T>CCA372344047DENND3c.2024T>C (p.Leu675Ser)
c.1784T>C (p.Leu595Ser)
c.1628T>C (p.Leu543Ser)
c.1797T>C
n.1565T>C
c.1823T>C (p.Leu608Ser)
c.1667T>C (p.Leu556Ser)
c.1790T>C (p.Leu597Ser)
c.1280T>C (p.Leu427Ser)
c.1457T>C (p.Leu486Ser)
c.1451T>C (p.Leu484Ser)
c.992T>C (p.Leu331Ser)
c.521T>C (p.Leu174Ser)
n.1953T>C
n.2120T>C
c.1868T>C (p.Leu623Ser)
c.560T>C (p.Leu187Ser)
n.2170T>C
n.2143T>C
8g.141168274T>GCA372344048DENND3c.2024T>G (p.Leu675Trp)
c.1784T>G (p.Leu595Trp)
c.1628T>G (p.Leu543Trp)
c.1797T>G
n.1565T>G
c.1823T>G (p.Leu608Trp)
c.1667T>G (p.Leu556Trp)
c.1790T>G (p.Leu597Trp)
c.1280T>G (p.Leu427Trp)
c.1457T>G (p.Leu486Trp)
c.1451T>G (p.Leu484Trp)
c.992T>G (p.Leu331Trp)
c.521T>G (p.Leu174Trp)
n.1953T>G
n.2120T>G
c.1868T>G (p.Leu623Trp)
c.560T>G (p.Leu187Trp)
n.2170T>G
n.2143T>G
8g.141168275G>ACA463493795DENND3c.2025G>A (p.Leu675=)
c.1785G>A (p.Leu595=)
c.1629G>A (p.Leu543=)
c.1798G>A
n.1566G>A
c.1824G>A (p.Leu608=)
c.1668G>A (p.Leu556=)
c.1791G>A (p.Leu597=)
c.1281G>A (p.Leu427=)
c.1458G>A (p.Leu486=)
c.1452G>A (p.Leu484=)
c.993G>A (p.Leu331=)
c.522G>A (p.Leu174=)
n.1954G>A
n.2121G>A
c.1869G>A (p.Leu623=)
c.561G>A (p.Leu187=)
n.2171G>A
n.2144G>A
8g.141168275G>CCA372344049DENND3c.2025G>C (p.Leu675Phe)
c.1785G>C (p.Leu595Phe)
c.1629G>C (p.Leu543Phe)
c.1798G>C
n.1566G>C
c.1824G>C (p.Leu608Phe)
c.1668G>C (p.Leu556Phe)
c.1791G>C (p.Leu597Phe)
c.1281G>C (p.Leu427Phe)
c.1458G>C (p.Leu486Phe)
c.1452G>C (p.Leu484Phe)
c.993G>C (p.Leu331Phe)
c.522G>C (p.Leu174Phe)
n.1954G>C
n.2121G>C
c.1869G>C (p.Leu623Phe)
c.561G>C (p.Leu187Phe)
n.2171G>C
n.2144G>C
8g.141168275G>TCA372344050DENND3c.2025G>T (p.Leu675Phe)
c.1785G>T (p.Leu595Phe)
c.1629G>T (p.Leu543Phe)
c.1798G>T
n.1566G>T
c.1824G>T (p.Leu608Phe)
c.1668G>T (p.Leu556Phe)
c.1791G>T (p.Leu597Phe)
c.1281G>T (p.Leu427Phe)
c.1458G>T (p.Leu486Phe)
c.1452G>T (p.Leu484Phe)
c.993G>T (p.Leu331Phe)
c.522G>T (p.Leu174Phe)
n.1954G>T
n.2121G>T
c.1869G>T (p.Leu623Phe)
c.561G>T (p.Leu187Phe)
n.2171G>T
n.2144G>T
8g.141168276G>ACA4896793DENND3c.2026G>A (p.Val676Met)
c.1786G>A (p.Val596Met)
c.1630G>A (p.Val544Met)
c.1799G>A
n.1567G>A
c.1825G>A (p.Val609Met)
c.1669G>A (p.Val557Met)
c.1792G>A (p.Val598Met)
c.1282G>A (p.Val428Met)
c.1459G>A (p.Val487Met)
c.1453G>A (p.Val485Met)
c.994G>A (p.Val332Met)
c.523G>A (p.Val175Met)
n.1955G>A
n.2122G>A
c.1870G>A (p.Val624Met)
c.562G>A (p.Val188Met)
n.2172G>A
n.2145G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168276G>CCA372344051DENND3c.2026G>C (p.Val676Leu)
c.1786G>C (p.Val596Leu)
c.1630G>C (p.Val544Leu)
c.1799G>C
n.1567G>C
c.1825G>C (p.Val609Leu)
c.1669G>C (p.Val557Leu)
c.1792G>C (p.Val598Leu)
c.1282G>C (p.Val428Leu)
c.1459G>C (p.Val487Leu)
c.1453G>C (p.Val485Leu)
c.994G>C (p.Val332Leu)
c.523G>C (p.Val175Leu)
n.1955G>C
n.2122G>C
c.1870G>C (p.Val624Leu)
c.562G>C (p.Val188Leu)
n.2172G>C
n.2145G>C
8g.141168276G>TCA372344052DENND3c.2026G>T (p.Val676Leu)
c.1786G>T (p.Val596Leu)
c.1630G>T (p.Val544Leu)
c.1799G>T
n.1567G>T
c.1825G>T (p.Val609Leu)
c.1669G>T (p.Val557Leu)
c.1792G>T (p.Val598Leu)
c.1282G>T (p.Val428Leu)
c.1459G>T (p.Val487Leu)
c.1453G>T (p.Val485Leu)
c.994G>T (p.Val332Leu)
c.523G>T (p.Val175Leu)
n.1955G>T
n.2122G>T
c.1870G>T (p.Val624Leu)
c.562G>T (p.Val188Leu)
n.2172G>T
n.2145G>T
8g.141168277T>ACA372344054DENND3c.2027T>A (p.Val676Glu)
c.1787T>A (p.Val596Glu)
c.1631T>A (p.Val544Glu)
c.1800T>A
n.1568T>A
c.1826T>A (p.Val609Glu)
c.1670T>A (p.Val557Glu)
c.1793T>A (p.Val598Glu)
c.1283T>A (p.Val428Glu)
c.1460T>A (p.Val487Glu)
c.1454T>A (p.Val485Glu)
c.995T>A (p.Val332Glu)
c.524T>A (p.Val175Glu)
n.1956T>A
n.2123T>A
c.1871T>A (p.Val624Glu)
c.563T>A (p.Val188Glu)
n.2173T>A
n.2146T>A
8g.141168277T>CCA372344055DENND3c.2027T>C (p.Val676Ala)
c.1787T>C (p.Val596Ala)
c.1631T>C (p.Val544Ala)
c.1800T>C
n.1568T>C
c.1826T>C (p.Val609Ala)
c.1670T>C (p.Val557Ala)
c.1793T>C (p.Val598Ala)
c.1283T>C (p.Val428Ala)
c.1460T>C (p.Val487Ala)
c.1454T>C (p.Val485Ala)
c.995T>C (p.Val332Ala)
c.524T>C (p.Val175Ala)
n.1956T>C
n.2123T>C
c.1871T>C (p.Val624Ala)
c.563T>C (p.Val188Ala)
n.2173T>C
n.2146T>C
8g.141168277T>GCA372344053DENND3c.2027T>G (p.Val676Gly)
c.1787T>G (p.Val596Gly)
c.1631T>G (p.Val544Gly)
c.1800T>G
n.1568T>G
c.1826T>G (p.Val609Gly)
c.1670T>G (p.Val557Gly)
c.1793T>G (p.Val598Gly)
c.1283T>G (p.Val428Gly)
c.1460T>G (p.Val487Gly)
c.1454T>G (p.Val485Gly)
c.995T>G (p.Val332Gly)
c.524T>G (p.Val175Gly)
n.1956T>G
n.2123T>G
c.1871T>G (p.Val624Gly)
c.563T>G (p.Val188Gly)
n.2173T>G
n.2146T>G
8g.141168278G>ACA4896794DENND3c.2028G>A (p.Val676=)
c.1788G>A (p.Val596=)
c.1632G>A (p.Val544=)
c.1801G>A
n.1569G>A
c.1827G>A (p.Val609=)
c.1671G>A (p.Val557=)
c.1794G>A (p.Val598=)
c.1284G>A (p.Val428=)
c.1461G>A (p.Val487=)
c.1455G>A (p.Val485=)
c.996G>A (p.Val332=)
c.525G>A (p.Val175=)
n.1957G>A
n.2124G>A
c.1872G>A (p.Val624=)
c.564G>A (p.Val188=)
n.2174G>A
n.2147G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168278G>CCA463493826DENND3c.2028G>C (p.Val676=)
c.1788G>C (p.Val596=)
c.1632G>C (p.Val544=)
c.1801G>C
n.1569G>C
c.1827G>C (p.Val609=)
c.1671G>C (p.Val557=)
c.1794G>C (p.Val598=)
c.1284G>C (p.Val428=)
c.1461G>C (p.Val487=)
c.1455G>C (p.Val485=)
c.996G>C (p.Val332=)
c.525G>C (p.Val175=)
n.1957G>C
n.2124G>C
c.1872G>C (p.Val624=)
c.564G>C (p.Val188=)
n.2174G>C
n.2147G>C
8g.141168278G>TCA463493829DENND3c.2028G>T (p.Val676=)
c.1788G>T (p.Val596=)
c.1632G>T (p.Val544=)
c.1801G>T
n.1569G>T
c.1827G>T (p.Val609=)
c.1671G>T (p.Val557=)
c.1794G>T (p.Val598=)
c.1284G>T (p.Val428=)
c.1461G>T (p.Val487=)
c.1455G>T (p.Val485=)
c.996G>T (p.Val332=)
c.525G>T (p.Val175=)
n.1957G>T
n.2124G>T
c.1872G>T (p.Val624=)
c.564G>T (p.Val188=)
n.2174G>T
n.2147G>T
 dbSNP
8g.141168279A>CCA372344056DENND3c.2029A>C (p.Lys677Gln)
c.1789A>C (p.Lys597Gln)
c.1633A>C (p.Lys545Gln)
c.1802A>C
n.1570A>C
c.1828A>C (p.Lys610Gln)
c.1672A>C (p.Lys558Gln)
c.1795A>C (p.Lys599Gln)
c.1285A>C (p.Lys429Gln)
c.1462A>C (p.Lys488Gln)
c.1456A>C (p.Lys486Gln)
c.997A>C (p.Lys333Gln)
c.526A>C (p.Lys176Gln)
n.1958A>C
n.2125A>C
c.1873A>C (p.Lys625Gln)
c.565A>C (p.Lys189Gln)
n.2175A>C
n.2148A>C
8g.141168279A>GCA372344057DENND3c.2029A>G (p.Lys677Glu)
c.1789A>G (p.Lys597Glu)
c.1633A>G (p.Lys545Glu)
c.1802A>G
n.1570A>G
c.1828A>G (p.Lys610Glu)
c.1672A>G (p.Lys558Glu)
c.1795A>G (p.Lys599Glu)
c.1285A>G (p.Lys429Glu)
c.1462A>G (p.Lys488Glu)
c.1456A>G (p.Lys486Glu)
c.997A>G (p.Lys333Glu)
c.526A>G (p.Lys176Glu)
n.1958A>G
n.2125A>G
c.1873A>G (p.Lys625Glu)
c.565A>G (p.Lys189Glu)
n.2175A>G
n.2148A>G
8g.141168279A>TCA372344058DENND3c.2029A>T (p.Lys677Ter)
c.1789A>T (p.Lys597Ter)
c.1633A>T (p.Lys545Ter)
c.1802A>T
n.1570A>T
c.1828A>T (p.Lys610Ter)
c.1672A>T (p.Lys558Ter)
c.1795A>T (p.Lys599Ter)
c.1285A>T (p.Lys429Ter)
c.1462A>T (p.Lys488Ter)
c.1456A>T (p.Lys486Ter)
c.997A>T (p.Lys333Ter)
c.526A>T (p.Lys176Ter)
n.1958A>T
n.2125A>T
c.1873A>T (p.Lys625Ter)
c.565A>T (p.Lys189Ter)
n.2175A>T
n.2148A>T
8g.141168280A>CCA372344059DENND3c.2030A>C (p.Lys677Thr)
c.1790A>C (p.Lys597Thr)
c.1634A>C (p.Lys545Thr)
c.1803A>C
n.1571A>C
c.1829A>C (p.Lys610Thr)
c.1673A>C (p.Lys558Thr)
c.1796A>C (p.Lys599Thr)
c.1286A>C (p.Lys429Thr)
c.1463A>C (p.Lys488Thr)
c.1457A>C (p.Lys486Thr)
c.998A>C (p.Lys333Thr)
c.527A>C (p.Lys176Thr)
n.1959A>C
n.2126A>C
c.1874A>C (p.Lys625Thr)
c.566A>C (p.Lys189Thr)
n.2176A>C
n.2149A>C
8g.141168280A>GCA372344060DENND3c.2030A>G (p.Lys677Arg)
c.1790A>G (p.Lys597Arg)
c.1634A>G (p.Lys545Arg)
c.1803A>G
n.1571A>G
c.1829A>G (p.Lys610Arg)
c.1673A>G (p.Lys558Arg)
c.1796A>G (p.Lys599Arg)
c.1286A>G (p.Lys429Arg)
c.1463A>G (p.Lys488Arg)
c.1457A>G (p.Lys486Arg)
c.998A>G (p.Lys333Arg)
c.527A>G (p.Lys176Arg)
n.1959A>G
n.2126A>G
c.1874A>G (p.Lys625Arg)
c.566A>G (p.Lys189Arg)
n.2176A>G
n.2149A>G
8g.141168280A>TCA372344061DENND3c.2030A>T (p.Lys677Met)
c.1790A>T (p.Lys597Met)
c.1634A>T (p.Lys545Met)
c.1803A>T
n.1571A>T
c.1829A>T (p.Lys610Met)
c.1673A>T (p.Lys558Met)
c.1796A>T (p.Lys599Met)
c.1286A>T (p.Lys429Met)
c.1463A>T (p.Lys488Met)
c.1457A>T (p.Lys486Met)
c.998A>T (p.Lys333Met)
c.527A>T (p.Lys176Met)
n.1959A>T
n.2126A>T
c.1874A>T (p.Lys625Met)
c.566A>T (p.Lys189Met)
n.2176A>T
n.2149A>T
8g.141168281G>ACA463493839DENND3c.2031G>A (p.Lys677=)
c.1791G>A (p.Lys597=)
c.1635G>A (p.Lys545=)
c.1804G>A
n.1572G>A
c.1830G>A (p.Lys610=)
c.1674G>A (p.Lys558=)
c.1797G>A (p.Lys599=)
c.1287G>A (p.Lys429=)
c.1464G>A (p.Lys488=)
c.1458G>A (p.Lys486=)
c.999G>A (p.Lys333=)
c.528G>A (p.Lys176=)
n.1960G>A
n.2127G>A
c.1875G>A (p.Lys625=)
c.567G>A (p.Lys189=)
n.2177G>A
n.2150G>A
8g.141168281G>CCA372344062DENND3c.2031G>C (p.Lys677Asn)
c.1791G>C (p.Lys597Asn)
c.1635G>C (p.Lys545Asn)
c.1804G>C
n.1572G>C
c.1830G>C (p.Lys610Asn)
c.1674G>C (p.Lys558Asn)
c.1797G>C (p.Lys599Asn)
c.1287G>C (p.Lys429Asn)
c.1464G>C (p.Lys488Asn)
c.1458G>C (p.Lys486Asn)
c.999G>C (p.Lys333Asn)
c.528G>C (p.Lys176Asn)
n.1960G>C
n.2127G>C
c.1875G>C (p.Lys625Asn)
c.567G>C (p.Lys189Asn)
n.2177G>C
n.2150G>C
8g.141168281G>TCA372344063DENND3c.2031G>T (p.Lys677Asn)
c.1791G>T (p.Lys597Asn)
c.1635G>T (p.Lys545Asn)
c.1804G>T
n.1572G>T
c.1830G>T (p.Lys610Asn)
c.1674G>T (p.Lys558Asn)
c.1797G>T (p.Lys599Asn)
c.1287G>T (p.Lys429Asn)
c.1464G>T (p.Lys488Asn)
c.1458G>T (p.Lys486Asn)
c.999G>T (p.Lys333Asn)
c.528G>T (p.Lys176Asn)
n.1960G>T
n.2127G>T
c.1875G>T (p.Lys625Asn)
c.567G>T (p.Lys189Asn)
n.2177G>T
n.2150G>T
8g.141168282A>CCA463493844DENND3c.2032A>C (p.Arg678=)
c.1792A>C (p.Arg598=)
c.1636A>C (p.Arg546=)
c.1805A>C
n.1573A>C
c.1831A>C (p.Arg611=)
c.1675A>C (p.Arg559=)
c.1798A>C (p.Arg600=)
c.1288A>C (p.Arg430=)
c.1465A>C (p.Arg489=)
c.1459A>C (p.Arg487=)
c.1000A>C (p.Arg334=)
c.529A>C (p.Arg177=)
n.1961A>C
n.2128A>C
c.1876A>C (p.Arg626=)
c.568A>C (p.Arg190=)
n.2178A>C
n.2151A>C
8g.141168282A>GCA372344064DENND3c.2032A>G (p.Arg678Gly)
c.1792A>G (p.Arg598Gly)
c.1636A>G (p.Arg546Gly)
c.1805A>G
n.1573A>G
c.1831A>G (p.Arg611Gly)
c.1675A>G (p.Arg559Gly)
c.1798A>G (p.Arg600Gly)
c.1288A>G (p.Arg430Gly)
c.1465A>G (p.Arg489Gly)
c.1459A>G (p.Arg487Gly)
c.1000A>G (p.Arg334Gly)
c.529A>G (p.Arg177Gly)
n.1961A>G
n.2128A>G
c.1876A>G (p.Arg626Gly)
c.568A>G (p.Arg190Gly)
n.2178A>G
n.2151A>G
8g.141168282A>TCA372344065DENND3c.2032A>T (p.Arg678Trp)
c.1792A>T (p.Arg598Trp)
c.1636A>T (p.Arg546Trp)
c.1805A>T
n.1573A>T
c.1831A>T (p.Arg611Trp)
c.1675A>T (p.Arg559Trp)
c.1798A>T (p.Arg600Trp)
c.1288A>T (p.Arg430Trp)
c.1465A>T (p.Arg489Trp)
c.1459A>T (p.Arg487Trp)
c.1000A>T (p.Arg334Trp)
c.529A>T (p.Arg177Trp)
n.1961A>T
n.2128A>T
c.1876A>T (p.Arg626Trp)
c.568A>T (p.Arg190Trp)
n.2178A>T
n.2151A>T
8g.141168283G>ACA372344068DENND3c.2033G>A (p.Arg678Lys)
c.1793G>A (p.Arg598Lys)
c.1637G>A (p.Arg546Lys)
c.1806G>A
n.1574G>A
c.1832G>A (p.Arg611Lys)
c.1676G>A (p.Arg559Lys)
c.1799G>A (p.Arg600Lys)
c.1289G>A (p.Arg430Lys)
c.1466G>A (p.Arg489Lys)
c.1460G>A (p.Arg487Lys)
c.1001G>A (p.Arg334Lys)
c.530G>A (p.Arg177Lys)
n.1962G>A
n.2129G>A
c.1877G>A (p.Arg626Lys)
c.569G>A (p.Arg190Lys)
n.2179G>A
n.2152G>A
 gnomAD v4
8g.141168283G>CCA372344067DENND3c.2033G>C (p.Arg678Thr)
c.1793G>C (p.Arg598Thr)
c.1637G>C (p.Arg546Thr)
c.1806G>C
n.1574G>C
c.1832G>C (p.Arg611Thr)
c.1676G>C (p.Arg559Thr)
c.1799G>C (p.Arg600Thr)
c.1289G>C (p.Arg430Thr)
c.1466G>C (p.Arg489Thr)
c.1460G>C (p.Arg487Thr)
c.1001G>C (p.Arg334Thr)
c.530G>C (p.Arg177Thr)
n.1962G>C
n.2129G>C
c.1877G>C (p.Arg626Thr)
c.569G>C (p.Arg190Thr)
n.2179G>C
n.2152G>C
8g.141168283G>TCA372344066DENND3c.2033G>T (p.Arg678Met)
c.1793G>T (p.Arg598Met)
c.1637G>T (p.Arg546Met)
c.1806G>T
n.1574G>T
c.1832G>T (p.Arg611Met)
c.1676G>T (p.Arg559Met)
c.1799G>T (p.Arg600Met)
c.1289G>T (p.Arg430Met)
c.1466G>T (p.Arg489Met)
c.1460G>T (p.Arg487Met)
c.1001G>T (p.Arg334Met)
c.530G>T (p.Arg177Met)
n.1962G>T
n.2129G>T
c.1877G>T (p.Arg626Met)
c.569G>T (p.Arg190Met)
n.2179G>T
n.2152G>T
8g.141168284G>ACA463493852DENND3c.2034G>A (p.Arg678=)
c.1794G>A (p.Arg598=)
c.1638G>A (p.Arg546=)
c.1807G>A
n.1575G>A
c.1833G>A (p.Arg611=)
c.1677G>A (p.Arg559=)
c.1800G>A (p.Arg600=)
c.1290G>A (p.Arg430=)
c.1467G>A (p.Arg489=)
c.1461G>A (p.Arg487=)
c.1002G>A (p.Arg334=)
c.531G>A (p.Arg177=)
n.1963G>A
n.2130G>A
c.1878G>A (p.Arg626=)
c.570G>A (p.Arg190=)
n.2180G>A
n.2153G>A
 dbSNP gnomAD v3 gnomAD v4
8g.141168284G>CCA372344069DENND3c.2034G>C (p.Arg678Ser)
c.1794G>C (p.Arg598Ser)
c.1638G>C (p.Arg546Ser)
c.1807G>C
n.1575G>C
c.1833G>C (p.Arg611Ser)
c.1677G>C (p.Arg559Ser)
c.1800G>C (p.Arg600Ser)
c.1290G>C (p.Arg430Ser)
c.1467G>C (p.Arg489Ser)
c.1461G>C (p.Arg487Ser)
c.1002G>C (p.Arg334Ser)
c.531G>C (p.Arg177Ser)
n.1963G>C
n.2130G>C
c.1878G>C (p.Arg626Ser)
c.570G>C (p.Arg190Ser)
n.2180G>C
n.2153G>C
8g.141168284G>TCA372344070DENND3c.2034G>T (p.Arg678Ser)
c.1794G>T (p.Arg598Ser)
c.1638G>T (p.Arg546Ser)
c.1807G>T
n.1575G>T
c.1833G>T (p.Arg611Ser)
c.1677G>T (p.Arg559Ser)
c.1800G>T (p.Arg600Ser)
c.1290G>T (p.Arg430Ser)
c.1467G>T (p.Arg489Ser)
c.1461G>T (p.Arg487Ser)
c.1002G>T (p.Arg334Ser)
c.531G>T (p.Arg177Ser)
n.1963G>T
n.2130G>T
c.1878G>T (p.Arg626Ser)
c.570G>T (p.Arg190Ser)
n.2180G>T
n.2153G>T
8g.141168285A>CCA372344071DENND3c.2035A>C (p.Thr679Pro)
c.1795A>C (p.Thr599Pro)
c.1639A>C (p.Thr547Pro)
c.1808A>C
n.1576A>C
c.1834A>C (p.Thr612Pro)
c.1678A>C (p.Thr560Pro)
c.1801A>C (p.Thr601Pro)
c.1291A>C (p.Thr431Pro)
c.1468A>C (p.Thr490Pro)
c.1462A>C (p.Thr488Pro)
c.1003A>C (p.Thr335Pro)
c.532A>C (p.Thr178Pro)
n.1964A>C
n.2131A>C
c.1879A>C (p.Thr627Pro)
c.571A>C (p.Thr191Pro)
n.2181A>C
n.2154A>C
8g.141168285A>GCA372344072DENND3c.2035A>G (p.Thr679Ala)
c.1795A>G (p.Thr599Ala)
c.1639A>G (p.Thr547Ala)
c.1808A>G
n.1576A>G
c.1834A>G (p.Thr612Ala)
c.1678A>G (p.Thr560Ala)
c.1801A>G (p.Thr601Ala)
c.1291A>G (p.Thr431Ala)
c.1468A>G (p.Thr490Ala)
c.1462A>G (p.Thr488Ala)
c.1003A>G (p.Thr335Ala)
c.532A>G (p.Thr178Ala)
n.1964A>G
n.2131A>G
c.1879A>G (p.Thr627Ala)
c.571A>G (p.Thr191Ala)
n.2181A>G
n.2154A>G
8g.141168285A>TCA372344073DENND3c.2035A>T (p.Thr679Ser)
c.1795A>T (p.Thr599Ser)
c.1639A>T (p.Thr547Ser)
c.1808A>T
n.1576A>T
c.1834A>T (p.Thr612Ser)
c.1678A>T (p.Thr560Ser)
c.1801A>T (p.Thr601Ser)
c.1291A>T (p.Thr431Ser)
c.1468A>T (p.Thr490Ser)
c.1462A>T (p.Thr488Ser)
c.1003A>T (p.Thr335Ser)
c.532A>T (p.Thr178Ser)
n.1964A>T
n.2131A>T
c.1879A>T (p.Thr627Ser)
c.571A>T (p.Thr191Ser)
n.2181A>T
n.2154A>T
8g.141168286C>ACA372344074DENND3c.2036C>A (p.Thr679Lys)
c.1796C>A (p.Thr599Lys)
c.1640C>A (p.Thr547Lys)
c.1809C>A
n.1577C>A
c.1835C>A (p.Thr612Lys)
c.1679C>A (p.Thr560Lys)
c.1802C>A (p.Thr601Lys)
c.1292C>A (p.Thr431Lys)
c.1469C>A (p.Thr490Lys)
c.1463C>A (p.Thr488Lys)
c.1004C>A (p.Thr335Lys)
c.533C>A (p.Thr178Lys)
n.1965C>A
n.2132C>A
c.1880C>A (p.Thr627Lys)
c.572C>A (p.Thr191Lys)
n.2182C>A
n.2155C>A
8g.141168286C>GCA372344075DENND3c.2036C>G (p.Thr679Arg)
c.1796C>G (p.Thr599Arg)
c.1640C>G (p.Thr547Arg)
c.1809C>G
n.1577C>G
c.1835C>G (p.Thr612Arg)
c.1679C>G (p.Thr560Arg)
c.1802C>G (p.Thr601Arg)
c.1292C>G (p.Thr431Arg)
c.1469C>G (p.Thr490Arg)
c.1463C>G (p.Thr488Arg)
c.1004C>G (p.Thr335Arg)
c.533C>G (p.Thr178Arg)
n.1965C>G
n.2132C>G
c.1880C>G (p.Thr627Arg)
c.572C>G (p.Thr191Arg)
n.2182C>G
n.2155C>G
8g.141168286C>TCA4896795DENND3c.2036C>T (p.Thr679Met)
c.1796C>T (p.Thr599Met)
c.1640C>T (p.Thr547Met)
c.1809C>T
n.1577C>T
c.1835C>T (p.Thr612Met)
c.1679C>T (p.Thr560Met)
c.1802C>T (p.Thr601Met)
c.1292C>T (p.Thr431Met)
c.1469C>T (p.Thr490Met)
c.1463C>T (p.Thr488Met)
c.1004C>T (p.Thr335Met)
c.533C>T (p.Thr178Met)
n.1965C>T
n.2132C>T
c.1880C>T (p.Thr627Met)
c.572C>T (p.Thr191Met)
n.2182C>T
n.2155C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168287G>ACA4896796DENND3c.2037G>A (p.Thr679=)
c.1797G>A (p.Thr599=)
c.1641G>A (p.Thr547=)
c.1810G>A
n.1578G>A
c.1836G>A (p.Thr612=)
c.1680G>A (p.Thr560=)
c.1803G>A (p.Thr601=)
c.1293G>A (p.Thr431=)
c.1470G>A (p.Thr490=)
c.1464G>A (p.Thr488=)
c.1005G>A (p.Thr335=)
c.534G>A (p.Thr178=)
n.1966G>A
n.2133G>A
c.1881G>A (p.Thr627=)
c.573G>A (p.Thr191=)
n.2183G>A
n.2156G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168287G>CCA463493864DENND3c.2037G>C (p.Thr679=)
c.1797G>C (p.Thr599=)
c.1641G>C (p.Thr547=)
c.1810G>C
n.1578G>C
c.1836G>C (p.Thr612=)
c.1680G>C (p.Thr560=)
c.1803G>C (p.Thr601=)
c.1293G>C (p.Thr431=)
c.1470G>C (p.Thr490=)
c.1464G>C (p.Thr488=)
c.1005G>C (p.Thr335=)
c.534G>C (p.Thr178=)
n.1966G>C
n.2133G>C
c.1881G>C (p.Thr627=)
c.573G>C (p.Thr191=)
n.2183G>C
n.2156G>C
8g.141168287G>TCA463493866DENND3c.2037G>T (p.Thr679=)
c.1797G>T (p.Thr599=)
c.1641G>T (p.Thr547=)
c.1810G>T
n.1578G>T
c.1836G>T (p.Thr612=)
c.1680G>T (p.Thr560=)
c.1803G>T (p.Thr601=)
c.1293G>T (p.Thr431=)
c.1470G>T (p.Thr490=)
c.1464G>T (p.Thr488=)
c.1005G>T (p.Thr335=)
c.534G>T (p.Thr178=)
n.1966G>T
n.2133G>T
c.1881G>T (p.Thr627=)
c.573G>T (p.Thr191=)
n.2183G>T
n.2156G>T
 gnomAD v4
8g.141168288G>ACA372344076DENND3c.2038G>A (p.Val680Met)
c.1798G>A (p.Val600Met)
c.1642G>A (p.Val548Met)
c.1811G>A
n.1579G>A
c.1837G>A (p.Val613Met)
c.1681G>A (p.Val561Met)
c.1804G>A (p.Val602Met)
c.1294G>A (p.Val432Met)
c.1471G>A (p.Val491Met)
c.1465G>A (p.Val489Met)
c.1006G>A (p.Val336Met)
c.535G>A (p.Val179Met)
n.1967G>A
n.2134G>A
c.1882G>A (p.Val628Met)
c.574G>A (p.Val192Met)
n.2184G>A
n.2157G>A
 COSMIC
8g.141168288G>CCA372344077DENND3c.2038G>C (p.Val680Leu)
c.1798G>C (p.Val600Leu)
c.1642G>C (p.Val548Leu)
c.1811G>C
n.1579G>C
c.1837G>C (p.Val613Leu)
c.1681G>C (p.Val561Leu)
c.1804G>C (p.Val602Leu)
c.1294G>C (p.Val432Leu)
c.1471G>C (p.Val491Leu)
c.1465G>C (p.Val489Leu)
c.1006G>C (p.Val336Leu)
c.535G>C (p.Val179Leu)
n.1967G>C
n.2134G>C
c.1882G>C (p.Val628Leu)
c.574G>C (p.Val192Leu)
n.2184G>C
n.2157G>C
8g.141168288G>TCA372344078DENND3c.2038G>T (p.Val680Leu)
c.1798G>T (p.Val600Leu)
c.1642G>T (p.Val548Leu)
c.1811G>T
n.1579G>T
c.1837G>T (p.Val613Leu)
c.1681G>T (p.Val561Leu)
c.1804G>T (p.Val602Leu)
c.1294G>T (p.Val432Leu)
c.1471G>T (p.Val491Leu)
c.1465G>T (p.Val489Leu)
c.1006G>T (p.Val336Leu)
c.535G>T (p.Val179Leu)
n.1967G>T
n.2134G>T
c.1882G>T (p.Val628Leu)
c.574G>T (p.Val192Leu)
n.2184G>T
n.2157G>T
8g.141168289T>ACA372344081DENND3c.2039T>A (p.Val680Glu)
c.1799T>A (p.Val600Glu)
c.1643T>A (p.Val548Glu)
c.1812T>A
n.1580T>A
c.1838T>A (p.Val613Glu)
c.1682T>A (p.Val561Glu)
c.1805T>A (p.Val602Glu)
c.1295T>A (p.Val432Glu)
c.1472T>A (p.Val491Glu)
c.1466T>A (p.Val489Glu)
c.1007T>A (p.Val336Glu)
c.536T>A (p.Val179Glu)
n.1968T>A
n.2135T>A
c.1883T>A (p.Val628Glu)
c.575T>A (p.Val192Glu)
n.2185T>A
n.2158T>A
8g.141168289T>CCA372344080DENND3c.2039T>C (p.Val680Ala)
c.1799T>C (p.Val600Ala)
c.1643T>C (p.Val548Ala)
c.1812T>C
n.1580T>C
c.1838T>C (p.Val613Ala)
c.1682T>C (p.Val561Ala)
c.1805T>C (p.Val602Ala)
c.1295T>C (p.Val432Ala)
c.1472T>C (p.Val491Ala)
c.1466T>C (p.Val489Ala)
c.1007T>C (p.Val336Ala)
c.536T>C (p.Val179Ala)
n.1968T>C
n.2135T>C
c.1883T>C (p.Val628Ala)
c.575T>C (p.Val192Ala)
n.2185T>C
n.2158T>C
8g.141168289T>GCA372344079DENND3c.2039T>G (p.Val680Gly)
c.1799T>G (p.Val600Gly)
c.1643T>G (p.Val548Gly)
c.1812T>G
n.1580T>G
c.1838T>G (p.Val613Gly)
c.1682T>G (p.Val561Gly)
c.1805T>G (p.Val602Gly)
c.1295T>G (p.Val432Gly)
c.1472T>G (p.Val491Gly)
c.1466T>G (p.Val489Gly)
c.1007T>G (p.Val336Gly)
c.536T>G (p.Val179Gly)
n.1968T>G
n.2135T>G
c.1883T>G (p.Val628Gly)
c.575T>G (p.Val192Gly)
n.2185T>G
n.2158T>G
8g.141168290G>ACA463493876DENND3c.2040G>A (p.Val680=)
c.1800G>A (p.Val600=)
c.1644G>A (p.Val548=)
c.1813G>A
n.1581G>A
c.1839G>A (p.Val613=)
c.1683G>A (p.Val561=)
c.1806G>A (p.Val602=)
c.1296G>A (p.Val432=)
c.1473G>A (p.Val491=)
c.1467G>A (p.Val489=)
c.1008G>A (p.Val336=)
c.537G>A (p.Val179=)
n.1969G>A
n.2136G>A
c.1884G>A (p.Val628=)
c.576G>A (p.Val192=)
n.2186G>A
n.2159G>A
 dbSNP gnomAD v3 gnomAD v4
8g.141168290G>CCA463493878DENND3c.2040G>C (p.Val680=)
c.1800G>C (p.Val600=)
c.1644G>C (p.Val548=)
c.1813G>C
n.1581G>C
c.1839G>C (p.Val613=)
c.1683G>C (p.Val561=)
c.1806G>C (p.Val602=)
c.1296G>C (p.Val432=)
c.1473G>C (p.Val491=)
c.1467G>C (p.Val489=)
c.1008G>C (p.Val336=)
c.537G>C (p.Val179=)
n.1969G>C
n.2136G>C
c.1884G>C (p.Val628=)
c.576G>C (p.Val192=)
n.2186G>C
n.2159G>C
8g.141168290G>TCA463493880DENND3c.2040G>T (p.Val680=)
c.1800G>T (p.Val600=)
c.1644G>T (p.Val548=)
c.1813G>T
n.1581G>T
c.1839G>T (p.Val613=)
c.1683G>T (p.Val561=)
c.1806G>T (p.Val602=)
c.1296G>T (p.Val432=)
c.1473G>T (p.Val491=)
c.1467G>T (p.Val489=)
c.1008G>T (p.Val336=)
c.537G>T (p.Val179=)
n.1969G>T
n.2136G>T
c.1884G>T (p.Val628=)
c.576G>T (p.Val192=)
n.2186G>T
n.2159G>T
8g.141168291G>ACA372344083DENND3c.2041G>A (p.Glu681Lys)
c.1801G>A (p.Glu601Lys)
c.1645G>A (p.Glu549Lys)
c.1814G>A
n.1582G>A
c.1840G>A (p.Glu614Lys)
c.1684G>A (p.Glu562Lys)
c.1807G>A (p.Glu603Lys)
c.1297G>A (p.Glu433Lys)
c.1474G>A (p.Glu492Lys)
c.1468G>A (p.Glu490Lys)
c.1009G>A (p.Glu337Lys)
c.538G>A (p.Glu180Lys)
n.1970G>A
n.2137G>A
c.1885G>A (p.Glu629Lys)
c.577G>A (p.Glu193Lys)
n.2187G>A
n.2160G>A
8g.141168291G>CCA372344082DENND3c.2041G>C (p.Glu681Gln)
c.1801G>C (p.Glu601Gln)
c.1645G>C (p.Glu549Gln)
c.1814G>C
n.1582G>C
c.1840G>C (p.Glu614Gln)
c.1684G>C (p.Glu562Gln)
c.1807G>C (p.Glu603Gln)
c.1297G>C (p.Glu433Gln)
c.1474G>C (p.Glu492Gln)
c.1468G>C (p.Glu490Gln)
c.1009G>C (p.Glu337Gln)
c.538G>C (p.Glu180Gln)
n.1970G>C
n.2137G>C
c.1885G>C (p.Glu629Gln)
c.577G>C (p.Glu193Gln)
n.2187G>C
n.2160G>C
8g.141168291G>TCA372344084DENND3c.2041G>T (p.Glu681Ter)
c.1801G>T (p.Glu601Ter)
c.1645G>T (p.Glu549Ter)
c.1814G>T
n.1582G>T
c.1840G>T (p.Glu614Ter)
c.1684G>T (p.Glu562Ter)
c.1807G>T (p.Glu603Ter)
c.1297G>T (p.Glu433Ter)
c.1474G>T (p.Glu492Ter)
c.1468G>T (p.Glu490Ter)
c.1009G>T (p.Glu337Ter)
c.538G>T (p.Glu180Ter)
n.1970G>T
n.2137G>T
c.1885G>T (p.Glu629Ter)
c.577G>T (p.Glu193Ter)
n.2187G>T
n.2160G>T
8g.141168292A>CCA372344085DENND3c.2042A>C (p.Glu681Ala)
c.1802A>C (p.Glu601Ala)
c.1646A>C (p.Glu549Ala)
c.1815A>C
n.1583A>C
c.1841A>C (p.Glu614Ala)
c.1685A>C (p.Glu562Ala)
c.1808A>C (p.Glu603Ala)
c.1298A>C (p.Glu433Ala)
c.1475A>C (p.Glu492Ala)
c.1469A>C (p.Glu490Ala)
c.1010A>C (p.Glu337Ala)
c.539A>C (p.Glu180Ala)
n.1971A>C
n.2138A>C
c.1886A>C (p.Glu629Ala)
c.578A>C (p.Glu193Ala)
n.2188A>C
n.2161A>C
8g.141168292A>GCA372344086DENND3c.2042A>G (p.Glu681Gly)
c.1802A>G (p.Glu601Gly)
c.1646A>G (p.Glu549Gly)
c.1815A>G
n.1583A>G
c.1841A>G (p.Glu614Gly)
c.1685A>G (p.Glu562Gly)
c.1808A>G (p.Glu603Gly)
c.1298A>G (p.Glu433Gly)
c.1475A>G (p.Glu492Gly)
c.1469A>G (p.Glu490Gly)
c.1010A>G (p.Glu337Gly)
c.539A>G (p.Glu180Gly)
n.1971A>G
n.2138A>G
c.1886A>G (p.Glu629Gly)
c.578A>G (p.Glu193Gly)
n.2188A>G
n.2161A>G
8g.141168292A>TCA372344087DENND3c.2042A>T (p.Glu681Val)
c.1802A>T (p.Glu601Val)
c.1646A>T (p.Glu549Val)
c.1815A>T
n.1583A>T
c.1841A>T (p.Glu614Val)
c.1685A>T (p.Glu562Val)
c.1808A>T (p.Glu603Val)
c.1298A>T (p.Glu433Val)
c.1475A>T (p.Glu492Val)
c.1469A>T (p.Glu490Val)
c.1010A>T (p.Glu337Val)
c.539A>T (p.Glu180Val)
n.1971A>T
n.2138A>T
c.1886A>T (p.Glu629Val)
c.578A>T (p.Glu193Val)
n.2188A>T
n.2161A>T
8g.141168292_141168293delCA2547407273DENND3c.2042_2043del (p.Glu681ValfsTer6)
c.1802_1803del (p.Glu601ValfsTer6)
c.1646_1647del (p.Glu549ValfsTer6)
c.1815_1816del
n.1583_1584del
c.1841_1842del (p.Glu614ValfsTer6)
c.1685_1686del (p.Glu562ValfsTer6)
c.1808_1809del (p.Glu603ValfsTer6)
c.1298_1299del (p.Glu433ValfsTer6)
c.1475_1476del (p.Glu492ValfsTer6)
c.1469_1470del (p.Glu490ValfsTer6)
c.1010_1011del (p.Glu337ValfsTer6)
c.539_540del (p.Glu180ValfsTer6)
n.1971_1972del
n.2138_2139del
c.1886_1887del (p.Glu629ValfsTer6)
c.578_579del (p.Glu193ValfsTer6)
n.2188_2189del
n.2161_2162del
8g.141168293A>CCA372344088DENND3c.2043A>C (p.Glu681Asp)
c.1803A>C (p.Glu601Asp)
c.1647A>C (p.Glu549Asp)
c.1816A>C
n.1584A>C
c.1842A>C (p.Glu614Asp)
c.1686A>C (p.Glu562Asp)
c.1809A>C (p.Glu603Asp)
c.1299A>C (p.Glu433Asp)
c.1476A>C (p.Glu492Asp)
c.1470A>C (p.Glu490Asp)
c.1011A>C (p.Glu337Asp)
c.540A>C (p.Glu180Asp)
n.1972A>C
n.2139A>C
c.1887A>C (p.Glu629Asp)
c.579A>C (p.Glu193Asp)
n.2189A>C
n.2162A>C
 COSMIC
8g.141168293A>GCA463493891DENND3c.2043A>G (p.Glu681=)
c.1803A>G (p.Glu601=)
c.1647A>G (p.Glu549=)
c.1816A>G
n.1584A>G
c.1842A>G (p.Glu614=)
c.1686A>G (p.Glu562=)
c.1809A>G (p.Glu603=)
c.1299A>G (p.Glu433=)
c.1476A>G (p.Glu492=)
c.1470A>G (p.Glu490=)
c.1011A>G (p.Glu337=)
c.540A>G (p.Glu180=)
n.1972A>G
n.2139A>G
c.1887A>G (p.Glu629=)
c.579A>G (p.Glu193=)
n.2189A>G
n.2162A>G
8g.141168293A>TCA372344089DENND3c.2043A>T (p.Glu681Asp)
c.1803A>T (p.Glu601Asp)
c.1647A>T (p.Glu549Asp)
c.1816A>T
n.1584A>T
c.1842A>T (p.Glu614Asp)
c.1686A>T (p.Glu562Asp)
c.1809A>T (p.Glu603Asp)
c.1299A>T (p.Glu433Asp)
c.1476A>T (p.Glu492Asp)
c.1470A>T (p.Glu490Asp)
c.1011A>T (p.Glu337Asp)
c.540A>T (p.Glu180Asp)
n.1972A>T
n.2139A>T
c.1887A>T (p.Glu629Asp)
c.579A>T (p.Glu193Asp)
n.2189A>T
n.2162A>T
8g.141168294T>ACA372344090DENND3c.2044T>A (p.Ser682Thr)
c.1804T>A (p.Ser602Thr)
c.1648T>A (p.Ser550Thr)
c.1817T>A
n.1585T>A
c.1843T>A (p.Ser615Thr)
c.1687T>A (p.Ser563Thr)
c.1810T>A (p.Ser604Thr)
c.1300T>A (p.Ser434Thr)
c.1477T>A (p.Ser493Thr)
c.1471T>A (p.Ser491Thr)
c.1012T>A (p.Ser338Thr)
c.541T>A (p.Ser181Thr)
n.1973T>A
n.2140T>A
c.1888T>A (p.Ser630Thr)
c.580T>A (p.Ser194Thr)
n.2190T>A
n.2163T>A
8g.141168294T>CCA372344091DENND3c.2044T>C (p.Ser682Pro)
c.1804T>C (p.Ser602Pro)
c.1648T>C (p.Ser550Pro)
c.1817T>C
n.1585T>C
c.1843T>C (p.Ser615Pro)
c.1687T>C (p.Ser563Pro)
c.1810T>C (p.Ser604Pro)
c.1300T>C (p.Ser434Pro)
c.1477T>C (p.Ser493Pro)
c.1471T>C (p.Ser491Pro)
c.1012T>C (p.Ser338Pro)
c.541T>C (p.Ser181Pro)
n.1973T>C
n.2140T>C
c.1888T>C (p.Ser630Pro)
c.580T>C (p.Ser194Pro)
n.2190T>C
n.2163T>C
8g.141168294T>GCA372344092DENND3c.2044T>G (p.Ser682Ala)
c.1804T>G (p.Ser602Ala)
c.1648T>G (p.Ser550Ala)
c.1817T>G
n.1585T>G
c.1843T>G (p.Ser615Ala)
c.1687T>G (p.Ser563Ala)
c.1810T>G (p.Ser604Ala)
c.1300T>G (p.Ser434Ala)
c.1477T>G (p.Ser493Ala)
c.1471T>G (p.Ser491Ala)
c.1012T>G (p.Ser338Ala)
c.541T>G (p.Ser181Ala)
n.1973T>G
n.2140T>G
c.1888T>G (p.Ser630Ala)
c.580T>G (p.Ser194Ala)
n.2190T>G
n.2163T>G
8g.141168295C>ACA372344093DENND3c.2045C>A (p.Ser682Tyr)
c.1805C>A (p.Ser602Tyr)
c.1649C>A (p.Ser550Tyr)
c.1818C>A
n.1586C>A
c.1844C>A (p.Ser615Tyr)
c.1688C>A (p.Ser563Tyr)
c.1811C>A (p.Ser604Tyr)
c.1301C>A (p.Ser434Tyr)
c.1478C>A (p.Ser493Tyr)
c.1472C>A (p.Ser491Tyr)
c.1013C>A (p.Ser338Tyr)
c.542C>A (p.Ser181Tyr)
n.1974C>A
n.2141C>A
c.1889C>A (p.Ser630Tyr)
c.581C>A (p.Ser194Tyr)
n.2191C>A
n.2164C>A
8g.141168295C>GCA372344094DENND3c.2045C>G (p.Ser682Cys)
c.1805C>G (p.Ser602Cys)
c.1649C>G (p.Ser550Cys)
c.1818C>G
n.1586C>G
c.1844C>G (p.Ser615Cys)
c.1688C>G (p.Ser563Cys)
c.1811C>G (p.Ser604Cys)
c.1301C>G (p.Ser434Cys)
c.1478C>G (p.Ser493Cys)
c.1472C>G (p.Ser491Cys)
c.1013C>G (p.Ser338Cys)
c.542C>G (p.Ser181Cys)
n.1974C>G
n.2141C>G
c.1889C>G (p.Ser630Cys)
c.581C>G (p.Ser194Cys)
n.2191C>G
n.2164C>G
8g.141168295C>TCA372344095DENND3c.2045C>T (p.Ser682Phe)
c.1805C>T (p.Ser602Phe)
c.1649C>T (p.Ser550Phe)
c.1818C>T
n.1586C>T
c.1844C>T (p.Ser615Phe)
c.1688C>T (p.Ser563Phe)
c.1811C>T (p.Ser604Phe)
c.1301C>T (p.Ser434Phe)
c.1478C>T (p.Ser493Phe)
c.1472C>T (p.Ser491Phe)
c.1013C>T (p.Ser338Phe)
c.542C>T (p.Ser181Phe)
n.1974C>T
n.2141C>T
c.1889C>T (p.Ser630Phe)
c.581C>T (p.Ser194Phe)
n.2191C>T
n.2164C>T
8g.141168296C>ACA463493901DENND3c.2046C>A (p.Ser682=)
c.1806C>A (p.Ser602=)
c.1650C>A (p.Ser550=)
c.1819C>A
n.1587C>A
c.1845C>A (p.Ser615=)
c.1689C>A (p.Ser563=)
c.1812C>A (p.Ser604=)
c.1302C>A (p.Ser434=)
c.1479C>A (p.Ser493=)
c.1473C>A (p.Ser491=)
c.1014C>A (p.Ser338=)
c.543C>A (p.Ser181=)
n.1975C>A
n.2142C>A
c.1890C>A (p.Ser630=)
c.582C>A (p.Ser194=)
n.2192C>A
n.2165C>A
8g.141168296C>GCA463493903DENND3c.2046C>G (p.Ser682=)
c.1806C>G (p.Ser602=)
c.1650C>G (p.Ser550=)
c.1819C>G
n.1587C>G
c.1845C>G (p.Ser615=)
c.1689C>G (p.Ser563=)
c.1812C>G (p.Ser604=)
c.1302C>G (p.Ser434=)
c.1479C>G (p.Ser493=)
c.1473C>G (p.Ser491=)
c.1014C>G (p.Ser338=)
c.543C>G (p.Ser181=)
n.1975C>G
n.2142C>G
c.1890C>G (p.Ser630=)
c.582C>G (p.Ser194=)
n.2192C>G
n.2165C>G
8g.141168296C>TCA463493905DENND3c.2046C>T (p.Ser682=)
c.1806C>T (p.Ser602=)
c.1650C>T (p.Ser550=)
c.1819C>T
n.1587C>T
c.1845C>T (p.Ser615=)
c.1689C>T (p.Ser563=)
c.1812C>T (p.Ser604=)
c.1302C>T (p.Ser434=)
c.1479C>T (p.Ser493=)
c.1473C>T (p.Ser491=)
c.1014C>T (p.Ser338=)
c.543C>T (p.Ser181=)
n.1975C>T
n.2142C>T
c.1890C>T (p.Ser630=)
c.582C>T (p.Ser194=)
n.2192C>T
n.2165C>T
 dbSNP
8g.141168296_141168302delCA2528185892DENND3c.2046_2052del (p.Met683ProfsTer13)
c.1806_1812del (p.Met603ProfsTer13)
c.1650_1656del (p.Met551ProfsTer13)
c.1819_1825del
n.1587_1593del
c.1845_1851del (p.Met616ProfsTer13)
c.1689_1695del (p.Met564ProfsTer13)
c.1812_1818del (p.Met605ProfsTer13)
c.1302_1308del (p.Met435ProfsTer13)
c.1479_1485del (p.Met494ProfsTer13)
c.1473_1479del (p.Met492ProfsTer13)
c.1014_1020del (p.Met339ProfsTer13)
c.543_549del (p.Met182ProfsTer13)
n.1975_1981del
n.2142_2148del
c.1890_1896del (p.Met631ProfsTer13)
c.582_588del (p.Met195ProfsTer13)
n.2192_2198del
n.2165_2171del
8g.141168297A>CCA372344097DENND3c.2047A>C (p.Met683Leu)
c.1807A>C (p.Met603Leu)
c.1651A>C (p.Met551Leu)
c.1820A>C
n.1588A>C
c.1846A>C (p.Met616Leu)
c.1690A>C (p.Met564Leu)
c.1813A>C (p.Met605Leu)
c.1303A>C (p.Met435Leu)
c.1480A>C (p.Met494Leu)
c.1474A>C (p.Met492Leu)
c.1015A>C (p.Met339Leu)
c.544A>C (p.Met182Leu)
n.1976A>C
n.2143A>C
c.1891A>C (p.Met631Leu)
c.583A>C (p.Met195Leu)
n.2193A>C
n.2166A>C
 gnomAD v4
8g.141168297A>GCA372344096DENND3c.2047A>G (p.Met683Val)
c.1807A>G (p.Met603Val)
c.1651A>G (p.Met551Val)
c.1820A>G
n.1588A>G
c.1846A>G (p.Met616Val)
c.1690A>G (p.Met564Val)
c.1813A>G (p.Met605Val)
c.1303A>G (p.Met435Val)
c.1480A>G (p.Met494Val)
c.1474A>G (p.Met492Val)
c.1015A>G (p.Met339Val)
c.544A>G (p.Met182Val)
n.1976A>G
n.2143A>G
c.1891A>G (p.Met631Val)
c.583A>G (p.Met195Val)
n.2193A>G
n.2166A>G
 gnomAD v4
8g.141168297A>TCA187325748DENND3c.2047A>T (p.Met683Leu)
c.1807A>T (p.Met603Leu)
c.1651A>T (p.Met551Leu)
c.1820A>T
n.1588A>T
c.1846A>T (p.Met616Leu)
c.1690A>T (p.Met564Leu)
c.1813A>T (p.Met605Leu)
c.1303A>T (p.Met435Leu)
c.1480A>T (p.Met494Leu)
c.1474A>T (p.Met492Leu)
c.1015A>T (p.Met339Leu)
c.544A>T (p.Met182Leu)
n.1976A>T
n.2143A>T
c.1891A>T (p.Met631Leu)
c.583A>T (p.Met195Leu)
n.2193A>T
n.2166A>T
 dbSNP gnomAD v3 gnomAD v4
8g.141168298T>ACA372344098DENND3c.2048T>A (p.Met683Lys)
c.1808T>A (p.Met603Lys)
c.1652T>A (p.Met551Lys)
c.1821T>A
n.1589T>A
c.1847T>A (p.Met616Lys)
c.1691T>A (p.Met564Lys)
c.1814T>A (p.Met605Lys)
c.1304T>A (p.Met435Lys)
c.1481T>A (p.Met494Lys)
c.1475T>A (p.Met492Lys)
c.1016T>A (p.Met339Lys)
c.545T>A (p.Met182Lys)
n.1977T>A
n.2144T>A
c.1892T>A (p.Met631Lys)
c.584T>A (p.Met195Lys)
n.2194T>A
n.2167T>A
8g.141168298T>CCA372344099DENND3c.2048T>C (p.Met683Thr)
c.1808T>C (p.Met603Thr)
c.1652T>C (p.Met551Thr)
c.1821T>C
n.1589T>C
c.1847T>C (p.Met616Thr)
c.1691T>C (p.Met564Thr)
c.1814T>C (p.Met605Thr)
c.1304T>C (p.Met435Thr)
c.1481T>C (p.Met494Thr)
c.1475T>C (p.Met492Thr)
c.1016T>C (p.Met339Thr)
c.545T>C (p.Met182Thr)
n.1977T>C
n.2144T>C
c.1892T>C (p.Met631Thr)
c.584T>C (p.Met195Thr)
n.2194T>C
n.2167T>C
 gnomAD v4
8g.141168298T>GCA372344100DENND3c.2048T>G (p.Met683Arg)
c.1808T>G (p.Met603Arg)
c.1652T>G (p.Met551Arg)
c.1821T>G
n.1589T>G
c.1847T>G (p.Met616Arg)
c.1691T>G (p.Met564Arg)
c.1814T>G (p.Met605Arg)
c.1304T>G (p.Met435Arg)
c.1481T>G (p.Met494Arg)
c.1475T>G (p.Met492Arg)
c.1016T>G (p.Met339Arg)
c.545T>G (p.Met182Arg)
n.1977T>G
n.2144T>G
c.1892T>G (p.Met631Arg)
c.584T>G (p.Met195Arg)
n.2194T>G
n.2167T>G
8g.141168299G>ACA372344101DENND3c.2049G>A (p.Met683Ile)
c.1809G>A (p.Met603Ile)
c.1653G>A (p.Met551Ile)
c.1822G>A
n.1590G>A
c.1848G>A (p.Met616Ile)
c.1692G>A (p.Met564Ile)
c.1815G>A (p.Met605Ile)
c.1305G>A (p.Met435Ile)
c.1482G>A (p.Met494Ile)
c.1476G>A (p.Met492Ile)
c.1017G>A (p.Met339Ile)
c.546G>A (p.Met182Ile)
n.1978G>A
n.2145G>A
c.1893G>A (p.Met631Ile)
c.585G>A (p.Met195Ile)
n.2195G>A
n.2168G>A
8g.141168299G>CCA372344102DENND3c.2049G>C (p.Met683Ile)
c.1809G>C (p.Met603Ile)
c.1653G>C (p.Met551Ile)
c.1822G>C
n.1590G>C
c.1848G>C (p.Met616Ile)
c.1692G>C (p.Met564Ile)
c.1815G>C (p.Met605Ile)
c.1305G>C (p.Met435Ile)
c.1482G>C (p.Met494Ile)
c.1476G>C (p.Met492Ile)
c.1017G>C (p.Met339Ile)
c.546G>C (p.Met182Ile)
n.1978G>C
n.2145G>C
c.1893G>C (p.Met631Ile)
c.585G>C (p.Met195Ile)
n.2195G>C
n.2168G>C
 gnomAD v4
8g.141168299G>TCA372344103DENND3c.2049G>T (p.Met683Ile)
c.1809G>T (p.Met603Ile)
c.1653G>T (p.Met551Ile)
c.1822G>T
n.1590G>T
c.1848G>T (p.Met616Ile)
c.1692G>T (p.Met564Ile)
c.1815G>T (p.Met605Ile)
c.1305G>T (p.Met435Ile)
c.1482G>T (p.Met494Ile)
c.1476G>T (p.Met492Ile)
c.1017G>T (p.Met339Ile)
c.546G>T (p.Met182Ile)
n.1978G>T
n.2145G>T
c.1893G>T (p.Met631Ile)
c.585G>T (p.Met195Ile)
n.2195G>T
n.2168G>T
8g.141168300T>ACA372344104DENND3c.2050T>A (p.Ser684Thr)
c.1810T>A (p.Ser604Thr)
c.1654T>A (p.Ser552Thr)
c.1823T>A
n.1591T>A
c.1849T>A (p.Ser617Thr)
c.1693T>A (p.Ser565Thr)
c.1816T>A (p.Ser606Thr)
c.1306T>A (p.Ser436Thr)
c.1483T>A (p.Ser495Thr)
c.1477T>A (p.Ser493Thr)
c.1018T>A (p.Ser340Thr)
c.547T>A (p.Ser183Thr)
n.1979T>A
n.2146T>A
c.1894T>A (p.Ser632Thr)
c.586T>A (p.Ser196Thr)
n.2196T>A
n.2169T>A
8g.141168300T>CCA372344105DENND3c.2050T>C (p.Ser684Pro)
c.1810T>C (p.Ser604Pro)
c.1654T>C (p.Ser552Pro)
c.1823T>C
n.1591T>C
c.1849T>C (p.Ser617Pro)
c.1693T>C (p.Ser565Pro)
c.1816T>C (p.Ser606Pro)
c.1306T>C (p.Ser436Pro)
c.1483T>C (p.Ser495Pro)
c.1477T>C (p.Ser493Pro)
c.1018T>C (p.Ser340Pro)
c.547T>C (p.Ser183Pro)
n.1979T>C
n.2146T>C
c.1894T>C (p.Ser632Pro)
c.586T>C (p.Ser196Pro)
n.2196T>C
n.2169T>C
 gnomAD v4
8g.141168300T>GCA372344106DENND3c.2050T>G (p.Ser684Ala)
c.1810T>G (p.Ser604Ala)
c.1654T>G (p.Ser552Ala)
c.1823T>G
n.1591T>G
c.1849T>G (p.Ser617Ala)
c.1693T>G (p.Ser565Ala)
c.1816T>G (p.Ser606Ala)
c.1306T>G (p.Ser436Ala)
c.1483T>G (p.Ser495Ala)
c.1477T>G (p.Ser493Ala)
c.1018T>G (p.Ser340Ala)
c.547T>G (p.Ser183Ala)
n.1979T>G
n.2146T>G
c.1894T>G (p.Ser632Ala)
c.586T>G (p.Ser196Ala)
n.2196T>G
n.2169T>G
8g.141168301C>ACA372344107DENND3c.2051C>A (p.Ser684Tyr)
c.1811C>A (p.Ser604Tyr)
c.1655C>A (p.Ser552Tyr)
c.1824C>A
n.1592C>A
c.1850C>A (p.Ser617Tyr)
c.1694C>A (p.Ser565Tyr)
c.1817C>A (p.Ser606Tyr)
c.1307C>A (p.Ser436Tyr)
c.1484C>A (p.Ser495Tyr)
c.1478C>A (p.Ser493Tyr)
c.1019C>A (p.Ser340Tyr)
c.548C>A (p.Ser183Tyr)
n.1980C>A
n.2147C>A
c.1895C>A (p.Ser632Tyr)
c.587C>A (p.Ser196Tyr)
n.2197C>A
n.2170C>A
8g.141168301C>GCA372344108DENND3c.2051C>G (p.Ser684Cys)
c.1811C>G (p.Ser604Cys)
c.1655C>G (p.Ser552Cys)
c.1824C>G
n.1592C>G
c.1850C>G (p.Ser617Cys)
c.1694C>G (p.Ser565Cys)
c.1817C>G (p.Ser606Cys)
c.1307C>G (p.Ser436Cys)
c.1484C>G (p.Ser495Cys)
c.1478C>G (p.Ser493Cys)
c.1019C>G (p.Ser340Cys)
c.548C>G (p.Ser183Cys)
n.1980C>G
n.2147C>G
c.1895C>G (p.Ser632Cys)
c.587C>G (p.Ser196Cys)
n.2197C>G
n.2170C>G
8g.141168301C>TCA372344109DENND3c.2051C>T (p.Ser684Phe)
c.1811C>T (p.Ser604Phe)
c.1655C>T (p.Ser552Phe)
c.1824C>T
n.1592C>T
c.1850C>T (p.Ser617Phe)
c.1694C>T (p.Ser565Phe)
c.1817C>T (p.Ser606Phe)
c.1307C>T (p.Ser436Phe)
c.1484C>T (p.Ser495Phe)
c.1478C>T (p.Ser493Phe)
c.1019C>T (p.Ser340Phe)
c.548C>T (p.Ser183Phe)
n.1980C>T
n.2147C>T
c.1895C>T (p.Ser632Phe)
c.587C>T (p.Ser196Phe)
n.2197C>T
n.2170C>T
8g.141168302T>ACA463493925DENND3c.2052T>A (p.Ser684=)
c.1812T>A (p.Ser604=)
c.1656T>A (p.Ser552=)
c.1825T>A
n.1593T>A
c.1851T>A (p.Ser617=)
c.1695T>A (p.Ser565=)
c.1818T>A (p.Ser606=)
c.1308T>A (p.Ser436=)
c.1485T>A (p.Ser495=)
c.1479T>A (p.Ser493=)
c.1020T>A (p.Ser340=)
c.549T>A (p.Ser183=)
n.1981T>A
n.2148T>A
c.1896T>A (p.Ser632=)
c.588T>A (p.Ser196=)
n.2198T>A
n.2171T>A
 dbSNP gnomAD v2 gnomAD v4
8g.141168302T>CCA463493927DENND3c.2052T>C (p.Ser684=)
c.1812T>C (p.Ser604=)
c.1656T>C (p.Ser552=)
c.1825T>C
n.1593T>C
c.1851T>C (p.Ser617=)
c.1695T>C (p.Ser565=)
c.1818T>C (p.Ser606=)
c.1308T>C (p.Ser436=)
c.1485T>C (p.Ser495=)
c.1479T>C (p.Ser493=)
c.1020T>C (p.Ser340=)
c.549T>C (p.Ser183=)
n.1981T>C
n.2148T>C
c.1896T>C (p.Ser632=)
c.588T>C (p.Ser196=)
n.2198T>C
n.2171T>C
 dbSNP
8g.141168302T>GCA463493929DENND3c.2052T>G (p.Ser684=)
c.1812T>G (p.Ser604=)
c.1656T>G (p.Ser552=)
c.1825T>G
n.1593T>G
c.1851T>G (p.Ser617=)
c.1695T>G (p.Ser565=)
c.1818T>G (p.Ser606=)
c.1308T>G (p.Ser436=)
c.1485T>G (p.Ser495=)
c.1479T>G (p.Ser493=)
c.1020T>G (p.Ser340=)
c.549T>G (p.Ser183=)
n.1981T>G
n.2148T>G
c.1896T>G (p.Ser632=)
c.588T>G (p.Ser196=)
n.2198T>G
n.2171T>G
8g.141168303G>ACA4896797DENND3c.2053G>A (p.Ala685Thr)
c.1813G>A (p.Ala605Thr)
c.1657G>A (p.Ala553Thr)
c.1826G>A
n.1594G>A
c.1852G>A (p.Ala618Thr)
c.1696G>A (p.Ala566Thr)
c.1819G>A (p.Ala607Thr)
c.1309G>A (p.Ala437Thr)
c.1486G>A (p.Ala496Thr)
c.1480G>A (p.Ala494Thr)
c.1021G>A (p.Ala341Thr)
c.550G>A (p.Ala184Thr)
n.1982G>A
n.2149G>A
c.1897G>A (p.Ala633Thr)
c.589G>A (p.Ala197Thr)
n.2199G>A
n.2172G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168303G>CCA372344111DENND3c.2053G>C (p.Ala685Pro)
c.1813G>C (p.Ala605Pro)
c.1657G>C (p.Ala553Pro)
c.1826G>C
n.1594G>C
c.1852G>C (p.Ala618Pro)
c.1696G>C (p.Ala566Pro)
c.1819G>C (p.Ala607Pro)
c.1309G>C (p.Ala437Pro)
c.1486G>C (p.Ala496Pro)
c.1480G>C (p.Ala494Pro)
c.1021G>C (p.Ala341Pro)
c.550G>C (p.Ala184Pro)
n.1982G>C
n.2149G>C
c.1897G>C (p.Ala633Pro)
c.589G>C (p.Ala197Pro)
n.2199G>C
n.2172G>C
 gnomAD v4
8g.141168303G>TCA372344110DENND3c.2053G>T (p.Ala685Ser)
c.1813G>T (p.Ala605Ser)
c.1657G>T (p.Ala553Ser)
c.1826G>T
n.1594G>T
c.1852G>T (p.Ala618Ser)
c.1696G>T (p.Ala566Ser)
c.1819G>T (p.Ala607Ser)
c.1309G>T (p.Ala437Ser)
c.1486G>T (p.Ala496Ser)
c.1480G>T (p.Ala494Ser)
c.1021G>T (p.Ala341Ser)
c.550G>T (p.Ala184Ser)
n.1982G>T
n.2149G>T
c.1897G>T (p.Ala633Ser)
c.589G>T (p.Ala197Ser)
n.2199G>T
n.2172G>T
 COSMIC
8g.141168304C>ACA372344112DENND3c.2054C>A (p.Ala685Asp)
c.1814C>A (p.Ala605Asp)
c.1658C>A (p.Ala553Asp)
c.1827C>A
n.1595C>A
c.1853C>A (p.Ala618Asp)
c.1697C>A (p.Ala566Asp)
c.1820C>A (p.Ala607Asp)
c.1310C>A (p.Ala437Asp)
c.1487C>A (p.Ala496Asp)
c.1481C>A (p.Ala494Asp)
c.1022C>A (p.Ala341Asp)
c.551C>A (p.Ala184Asp)
n.1983C>A
n.2150C>A
c.1898C>A (p.Ala633Asp)
c.590C>A (p.Ala197Asp)
n.2200C>A
n.2173C>A
8g.141168304C>GCA372344113DENND3c.2054C>G (p.Ala685Gly)
c.1814C>G (p.Ala605Gly)
c.1658C>G (p.Ala553Gly)
c.1827C>G
n.1595C>G
c.1853C>G (p.Ala618Gly)
c.1697C>G (p.Ala566Gly)
c.1820C>G (p.Ala607Gly)
c.1310C>G (p.Ala437Gly)
c.1487C>G (p.Ala496Gly)
c.1481C>G (p.Ala494Gly)
c.1022C>G (p.Ala341Gly)
c.551C>G (p.Ala184Gly)
n.1983C>G
n.2150C>G
c.1898C>G (p.Ala633Gly)
c.590C>G (p.Ala197Gly)
n.2200C>G
n.2173C>G
8g.141168304C>TCA372344114DENND3c.2054C>T (p.Ala685Val)
c.1814C>T (p.Ala605Val)
c.1658C>T (p.Ala553Val)
c.1827C>T
n.1595C>T
c.1853C>T (p.Ala618Val)
c.1697C>T (p.Ala566Val)
c.1820C>T (p.Ala607Val)
c.1310C>T (p.Ala437Val)
c.1487C>T (p.Ala496Val)
c.1481C>T (p.Ala494Val)
c.1022C>T (p.Ala341Val)
c.551C>T (p.Ala184Val)
n.1983C>T
n.2150C>T
c.1898C>T (p.Ala633Val)
c.590C>T (p.Ala197Val)
n.2200C>T
n.2173C>T
 gnomAD v4
8g.141168307delCA2688780302DENND3c.2057del (p.Pro686LeufsTer12)
c.1817del (p.Pro606LeufsTer12)
c.1661del (p.Pro554LeufsTer12)
c.1830del
n.1598del
c.1856del (p.Pro619LeufsTer12)
c.1700del (p.Pro567LeufsTer12)
c.1823del (p.Pro608LeufsTer12)
c.1313del (p.Pro438LeufsTer12)
c.1490del (p.Pro497LeufsTer12)
c.1484del (p.Pro495LeufsTer12)
c.1025del (p.Pro342LeufsTer12)
c.554del (p.Pro185LeufsTer12)
n.1986del
n.2153del
c.1901del (p.Pro634LeufsTer12)
c.593del (p.Pro198LeufsTer12)
n.2203del
n.2176del
 gnomAD v4
8g.141168305C>ACA463493939DENND3c.2055C>A (p.Ala685=)
c.1815C>A (p.Ala605=)
c.1659C>A (p.Ala553=)
c.1828C>A
n.1596C>A
c.1854C>A (p.Ala618=)
c.1698C>A (p.Ala566=)
c.1821C>A (p.Ala607=)
c.1311C>A (p.Ala437=)
c.1488C>A (p.Ala496=)
c.1482C>A (p.Ala494=)
c.1023C>A (p.Ala341=)
c.552C>A (p.Ala184=)
n.1984C>A
n.2151C>A
c.1899C>A (p.Ala633=)
c.591C>A (p.Ala197=)
n.2201C>A
n.2174C>A
8g.141168305C>GCA463493942DENND3c.2055C>G (p.Ala685=)
c.1815C>G (p.Ala605=)
c.1659C>G (p.Ala553=)
c.1828C>G
n.1596C>G
c.1854C>G (p.Ala618=)
c.1698C>G (p.Ala566=)
c.1821C>G (p.Ala607=)
c.1311C>G (p.Ala437=)
c.1488C>G (p.Ala496=)
c.1482C>G (p.Ala494=)
c.1023C>G (p.Ala341=)
c.552C>G (p.Ala184=)
n.1984C>G
n.2151C>G
c.1899C>G (p.Ala633=)
c.591C>G (p.Ala197=)
n.2201C>G
n.2174C>G
8g.141168305C>TCA187325749DENND3c.2055C>T (p.Ala685=)
c.1815C>T (p.Ala605=)
c.1659C>T (p.Ala553=)
c.1828C>T
n.1596C>T
c.1854C>T (p.Ala618=)
c.1698C>T (p.Ala566=)
c.1821C>T (p.Ala607=)
c.1311C>T (p.Ala437=)
c.1488C>T (p.Ala496=)
c.1482C>T (p.Ala494=)
c.1023C>T (p.Ala341=)
c.552C>T (p.Ala184=)
n.1984C>T
n.2151C>T
c.1899C>T (p.Ala633=)
c.591C>T (p.Ala197=)
n.2201C>T
n.2174C>T
 dbSNP gnomAD v4 COSMIC
8g.141168306C>ACA4896798DENND3c.2056C>A (p.Pro686Thr)
c.1816C>A (p.Pro606Thr)
c.1660C>A (p.Pro554Thr)
c.1829C>A
n.1597C>A
c.1855C>A (p.Pro619Thr)
c.1699C>A (p.Pro567Thr)
c.1822C>A (p.Pro608Thr)
c.1312C>A (p.Pro438Thr)
c.1489C>A (p.Pro497Thr)
c.1483C>A (p.Pro495Thr)
c.1024C>A (p.Pro342Thr)
c.553C>A (p.Pro185Thr)
n.1985C>A
n.2152C>A
c.1900C>A (p.Pro634Thr)
c.592C>A (p.Pro198Thr)
n.2202C>A
n.2175C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168306C>GCA372344115DENND3c.2056C>G (p.Pro686Ala)
c.1816C>G (p.Pro606Ala)
c.1660C>G (p.Pro554Ala)
c.1829C>G
n.1597C>G
c.1855C>G (p.Pro619Ala)
c.1699C>G (p.Pro567Ala)
c.1822C>G (p.Pro608Ala)
c.1312C>G (p.Pro438Ala)
c.1489C>G (p.Pro497Ala)
c.1483C>G (p.Pro495Ala)
c.1024C>G (p.Pro342Ala)
c.553C>G (p.Pro185Ala)
n.1985C>G
n.2152C>G
c.1900C>G (p.Pro634Ala)
c.592C>G (p.Pro198Ala)
n.2202C>G
n.2175C>G
8g.141168306C>TCA372344116DENND3c.2056C>T (p.Pro686Ser)
c.1816C>T (p.Pro606Ser)
c.1660C>T (p.Pro554Ser)
c.1829C>T
n.1597C>T
c.1855C>T (p.Pro619Ser)
c.1699C>T (p.Pro567Ser)
c.1822C>T (p.Pro608Ser)
c.1312C>T (p.Pro438Ser)
c.1489C>T (p.Pro497Ser)
c.1483C>T (p.Pro495Ser)
c.1024C>T (p.Pro342Ser)
c.553C>T (p.Pro185Ser)
n.1985C>T
n.2152C>T
c.1900C>T (p.Pro634Ser)
c.592C>T (p.Pro198Ser)
n.2202C>T
n.2175C>T
8g.141168306_141168308delCA2548625905DENND3c.2056_2058del (p.Pro686del)
c.1816_1818del (p.Pro606del)
c.1660_1662del (p.Pro554del)
c.1829_1831del
n.1597_1599del
c.1855_1857del (p.Pro619del)
c.1699_1701del (p.Pro567del)
c.1822_1824del (p.Pro608del)
c.1312_1314del (p.Pro438del)
c.1489_1491del (p.Pro497del)
c.1483_1485del (p.Pro495del)
c.1024_1026del (p.Pro342del)
c.553_555del (p.Pro185del)
n.1985_1987del
n.2152_2154del
c.1900_1902del (p.Pro634del)
c.592_594del (p.Pro198del)
n.2202_2204del
n.2175_2177del
8g.141168307C>ACA372344117DENND3c.2057C>A (p.Pro686His)
c.1817C>A (p.Pro606His)
c.1661C>A (p.Pro554His)
c.1830C>A
n.1598C>A
c.1856C>A (p.Pro619His)
c.1700C>A (p.Pro567His)
c.1823C>A (p.Pro608His)
c.1313C>A (p.Pro438His)
c.1490C>A (p.Pro497His)
c.1484C>A (p.Pro495His)
c.1025C>A (p.Pro342His)
c.554C>A (p.Pro185His)
n.1986C>A
n.2153C>A
c.1901C>A (p.Pro634His)
c.593C>A (p.Pro198His)
n.2203C>A
n.2176C>A
8g.141168307C>GCA372344118DENND3c.2057C>G (p.Pro686Arg)
c.1817C>G (p.Pro606Arg)
c.1661C>G (p.Pro554Arg)
c.1830C>G
n.1598C>G
c.1856C>G (p.Pro619Arg)
c.1700C>G (p.Pro567Arg)
c.1823C>G (p.Pro608Arg)
c.1313C>G (p.Pro438Arg)
c.1490C>G (p.Pro497Arg)
c.1484C>G (p.Pro495Arg)
c.1025C>G (p.Pro342Arg)
c.554C>G (p.Pro185Arg)
n.1986C>G
n.2153C>G
c.1901C>G (p.Pro634Arg)
c.593C>G (p.Pro198Arg)
n.2203C>G
n.2176C>G
8g.141168307C>TCA4896799DENND3c.2057C>T (p.Pro686Leu)
c.1817C>T (p.Pro606Leu)
c.1661C>T (p.Pro554Leu)
c.1830C>T
n.1598C>T
c.1856C>T (p.Pro619Leu)
c.1700C>T (p.Pro567Leu)
c.1823C>T (p.Pro608Leu)
c.1313C>T (p.Pro438Leu)
c.1490C>T (p.Pro497Leu)
c.1484C>T (p.Pro495Leu)
c.1025C>T (p.Pro342Leu)
c.554C>T (p.Pro185Leu)
n.1986C>T
n.2153C>T
c.1901C>T (p.Pro634Leu)
c.593C>T (p.Pro198Leu)
n.2203C>T
n.2176C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168307_141168308delCA2688780314DENND3c.2057_2058del (p.Pro686ArgfsTer6)
c.1817_1818del (p.Pro606ArgfsTer6)
c.1661_1662del (p.Pro554ArgfsTer6)
c.1830_1831del
n.1598_1599del
c.1856_1857del (p.Pro619ArgfsTer6)
c.1700_1701del (p.Pro567ArgfsTer6)
c.1823_1824del (p.Pro608ArgfsTer6)
c.1313_1314del (p.Pro438ArgfsTer6)
c.1490_1491del (p.Pro497ArgfsTer6)
c.1484_1485del (p.Pro495ArgfsTer6)
c.1025_1026del (p.Pro342ArgfsTer6)
c.554_555del (p.Pro185ArgfsTer6)
n.1986_1987del
n.2153_2154del
c.1901_1902del (p.Pro634ArgfsTer6)
c.593_594del (p.Pro198ArgfsTer6)
n.2203_2204del
n.2176_2177del
 gnomAD v4
8g.141168308delCA2579262221DENND3c.2058del (p.Glu687SerfsTer11)
c.1818del (p.Glu607SerfsTer11)
c.1662del (p.Glu555SerfsTer11)
c.1831del
n.1599del
c.1857del (p.Glu620SerfsTer11)
c.1701del (p.Glu568SerfsTer11)
c.1824del (p.Glu609SerfsTer11)
c.1314del (p.Glu439SerfsTer11)
c.1491del (p.Glu498SerfsTer11)
c.1485del (p.Glu496SerfsTer11)
c.1026del (p.Glu343SerfsTer11)
c.555del (p.Glu186SerfsTer11)
n.1987del
n.2154del
c.1902del (p.Glu635SerfsTer11)
c.594del (p.Glu199SerfsTer11)
n.2204del
n.2177del
8g.141168308T>ACA463493953DENND3c.2058T>A (p.Pro686=)
c.1818T>A (p.Pro606=)
c.1662T>A (p.Pro554=)
c.1831T>A
n.1599T>A
c.1857T>A (p.Pro619=)
c.1701T>A (p.Pro567=)
c.1824T>A (p.Pro608=)
c.1314T>A (p.Pro438=)
c.1491T>A (p.Pro497=)
c.1485T>A (p.Pro495=)
c.1026T>A (p.Pro342=)
c.555T>A (p.Pro185=)
n.1987T>A
n.2154T>A
c.1902T>A (p.Pro634=)
c.594T>A (p.Pro198=)
n.2204T>A
n.2177T>A
8g.141168308T>CCA463493955DENND3c.2058T>C (p.Pro686=)
c.1818T>C (p.Pro606=)
c.1662T>C (p.Pro554=)
c.1831T>C
n.1599T>C
c.1857T>C (p.Pro619=)
c.1701T>C (p.Pro567=)
c.1824T>C (p.Pro608=)
c.1314T>C (p.Pro438=)
c.1491T>C (p.Pro497=)
c.1485T>C (p.Pro495=)
c.1026T>C (p.Pro342=)
c.555T>C (p.Pro185=)
n.1987T>C
n.2154T>C
c.1902T>C (p.Pro634=)
c.594T>C (p.Pro198=)
n.2204T>C
n.2177T>C
8g.141168308T>GCA463493957DENND3c.2058T>G (p.Pro686=)
c.1818T>G (p.Pro606=)
c.1662T>G (p.Pro554=)
c.1831T>G
n.1599T>G
c.1857T>G (p.Pro619=)
c.1701T>G (p.Pro567=)
c.1824T>G (p.Pro608=)
c.1314T>G (p.Pro438=)
c.1491T>G (p.Pro497=)
c.1485T>G (p.Pro495=)
c.1026T>G (p.Pro342=)
c.555T>G (p.Pro185=)
n.1987T>G
n.2154T>G
c.1902T>G (p.Pro634=)
c.594T>G (p.Pro198=)
n.2204T>G
n.2177T>G
 COSMIC
8g.141168309G>ACA372344119DENND3c.2059G>A (p.Glu687Lys)
c.1819G>A (p.Glu607Lys)
c.1663G>A (p.Glu555Lys)
c.1832G>A
n.1600G>A
c.1858G>A (p.Glu620Lys)
c.1702G>A (p.Glu568Lys)
c.1825G>A (p.Glu609Lys)
c.1315G>A (p.Glu439Lys)
c.1492G>A (p.Glu498Lys)
c.1486G>A (p.Glu496Lys)
c.1027G>A (p.Glu343Lys)
c.556G>A (p.Glu186Lys)
n.1988G>A
n.2155G>A
c.1903G>A (p.Glu635Lys)
c.595G>A (p.Glu199Lys)
n.2205G>A
n.2178G>A
8g.141168309G>CCA372344120DENND3c.2059G>C (p.Glu687Gln)
c.1819G>C (p.Glu607Gln)
c.1663G>C (p.Glu555Gln)
c.1832G>C
n.1600G>C
c.1858G>C (p.Glu620Gln)
c.1702G>C (p.Glu568Gln)
c.1825G>C (p.Glu609Gln)
c.1315G>C (p.Glu439Gln)
c.1492G>C (p.Glu498Gln)
c.1486G>C (p.Glu496Gln)
c.1027G>C (p.Glu343Gln)
c.556G>C (p.Glu186Gln)
n.1988G>C
n.2155G>C
c.1903G>C (p.Glu635Gln)
c.595G>C (p.Glu199Gln)
n.2205G>C
n.2178G>C
8g.141168309G>TCA372344121DENND3c.2059G>T (p.Glu687Ter)
c.1819G>T (p.Glu607Ter)
c.1663G>T (p.Glu555Ter)
c.1832G>T
n.1600G>T
c.1858G>T (p.Glu620Ter)
c.1702G>T (p.Glu568Ter)
c.1825G>T (p.Glu609Ter)
c.1315G>T (p.Glu439Ter)
c.1492G>T (p.Glu498Ter)
c.1486G>T (p.Glu496Ter)
c.1027G>T (p.Glu343Ter)
c.556G>T (p.Glu186Ter)
n.1988G>T
n.2155G>T
c.1903G>T (p.Glu635Ter)
c.595G>T (p.Glu199Ter)
n.2205G>T
n.2178G>T
8g.141168309_141168310insTATCATTAAAAACA2550670887DENND3c.2059_2060insTATCATTAAAAA (p.Glu687delinsValSerLeuLysLys)
c.1819_1820insTATCATTAAAAA (p.Glu607delinsValSerLeuLysLys)
c.1663_1664insTATCATTAAAAA (p.Glu555delinsValSerLeuLysLys)
c.1832_1833insTATCATTAAAAA
n.1600_1601insTATCATTAAAAA
c.1858_1859insTATCATTAAAAA (p.Glu620delinsValSerLeuLysLys)
c.1702_1703insTATCATTAAAAA (p.Glu568delinsValSerLeuLysLys)
c.1825_1826insTATCATTAAAAA (p.Glu609delinsValSerLeuLysLys)
c.1315_1316insTATCATTAAAAA (p.Glu439delinsValSerLeuLysLys)
c.1492_1493insTATCATTAAAAA (p.Glu498delinsValSerLeuLysLys)
c.1486_1487insTATCATTAAAAA (p.Glu496delinsValSerLeuLysLys)
c.1027_1028insTATCATTAAAAA (p.Glu343delinsValSerLeuLysLys)
c.556_557insTATCATTAAAAA (p.Glu186delinsValSerLeuLysLys)
n.1988_1989insTATCATTAAAAA
n.2155_2156insTATCATTAAAAA
c.1903_1904insTATCATTAAAAA (p.Glu635delinsValSerLeuLysLys)
c.595_596insTATCATTAAAAA (p.Glu199delinsValSerLeuLysLys)
n.2205_2206insTATCATTAAAAA
n.2178_2179insTATCATTAAAAA
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

Number of alleles fetched