Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.141168291G>A | CA372344083 | DENND3 | c.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 | |
8 | g.141168291G>C | CA372344082 | DENND3 | c.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 | |
8 | g.141168291G>T | CA372344084 | DENND3 | c.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 | |
8 | g.141168292A>C | CA372344085 | DENND3 | c.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 | |
8 | g.141168292A>G | CA372344086 | DENND3 | c.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 | |
8 | g.141168292A>T | CA372344087 | DENND3 | c.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 | |
8 | g.141168292_141168293del | CA2547407273 | DENND3 | c.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 | |
8 | g.141168293A>C | CA372344088 | DENND3 | c.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 |
8 | g.141168293A>G | CA463493891 | DENND3 | c.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 | |
8 | g.141168293A>T | CA372344089 | DENND3 | c.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 | |
8 | g.141168294T>A | CA372344090 | DENND3 | c.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 | |
8 | g.141168294T>C | CA372344091 | DENND3 | c.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 | |
8 | g.141168294T>G | CA372344092 | DENND3 | c.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 | |
8 | g.141168295C>A | CA372344093 | DENND3 | c.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 | |
8 | g.141168295C>G | CA372344094 | DENND3 | c.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 | |
8 | g.141168295C>T | CA372344095 | DENND3 | c.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 | |
8 | g.141168296C>A | CA463493901 | DENND3 | c.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 | |
8 | g.141168296C>G | CA463493903 | DENND3 | c.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 | |
8 | g.141168296C>T | CA463493905 | DENND3 | c.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 |
8 | g.141168296_141168302del | CA2528185892 | DENND3 | c.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 | |
8 | g.141168297A>C | CA372344097 | DENND3 | c.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 |
8 | g.141168297A>G | CA372344096 | DENND3 | c.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 |
8 | g.141168297A>T | CA187325748 | DENND3 | c.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 |
8 | g.141168298T>A | CA372344098 | DENND3 | c.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 | |
8 | g.141168298T>C | CA372344099 | DENND3 | c.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 |
8 | g.141168298T>G | CA372344100 | DENND3 | c.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 | |
8 | g.141168299G>A | CA372344101 | DENND3 | c.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 | |
8 | g.141168299G>C | CA372344102 | DENND3 | c.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 |
8 | g.141168299G>T | CA372344103 | DENND3 | c.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 | |
8 | g.141168300T>A | CA372344104 | DENND3 | c.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 | |
8 | g.141168300T>C | CA372344105 | DENND3 | c.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 |
8 | g.141168300T>G | CA372344106 | DENND3 | c.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 | |
8 | g.141168301C>A | CA372344107 | DENND3 | c.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 | |
8 | g.141168301C>G | CA372344108 | DENND3 | c.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 | |
8 | g.141168301C>T | CA372344109 | DENND3 | c.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 | |
8 | g.141168302T>A | CA463493925 | DENND3 | c.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 |
8 | g.141168302T>C | CA463493927 | DENND3 | c.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 |
8 | g.141168302T>G | CA463493929 | DENND3 | c.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 | |
8 | g.141168303G>A | CA4896797 | DENND3 | c.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 |
8 | g.141168303G>C | CA372344111 | DENND3 | c.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 |
8 | g.141168303G>T | CA372344110 | DENND3 | c.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 |
8 | g.141168304C>A | CA372344112 | DENND3 | c.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 | |
8 | g.141168304C>G | CA372344113 | DENND3 | c.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 | |
8 | g.141168304C>T | CA372344114 | DENND3 | c.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 |
8 | g.141168307del | CA2688780302 | DENND3 | c.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 |
8 | g.141168305C>A | CA463493939 | DENND3 | c.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 | |
8 | g.141168305C>G | CA463493942 | DENND3 | c.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 | |
8 | g.141168305C>T | CA187325749 | DENND3 | c.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 |
8 | g.141168306C>A | CA4896798 | DENND3 | c.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 |
8 | g.141168306C>G | CA372344115 | DENND3 | c.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 | |
8 | g.141168306C>T | CA372344116 | DENND3 | c.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 | |
8 | g.141168306_141168308del | CA2548625905 | DENND3 | c.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 | |
8 | g.141168307C>A | CA372344117 | DENND3 | c.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 | |
8 | g.141168307C>G | CA372344118 | DENND3 | c.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 | |
8 | g.141168307C>T | CA4896799 | DENND3 | c.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 |
8 | g.141168307_141168308del | CA2688780314 | DENND3 | c.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 |
8 | g.141168308del | CA2579262221 | DENND3 | c.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 | |
8 | g.141168308T>A | CA463493953 | DENND3 | c.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 | |
8 | g.141168308T>C | CA463493955 | DENND3 | c.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 | |
8 | g.141168308T>G | CA463493957 | DENND3 | c.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 |
8 | g.141168309G>A | CA372344119 | DENND3 | c.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 | |
8 | g.141168309G>C | CA372344120 | DENND3 | c.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 | |
8 | g.141168309G>T | CA372344121 | DENND3 | c.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 | |
8 | g.141168309_141168310insTATCATTAAAAA | CA2550670887 | DENND3 | c.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 | |
8 | g.141168310A>C | CA372344124 | DENND3 | c.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 | |
8 | g.141168310A>G | CA372344123 | DENND3 | c.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 | |
8 | g.141168310A>T | CA372344122 | DENND3 | c.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 | |
8 | g.141168311G>A | CA463493966 | DENND3 | c.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 |
8 | g.141168311G>C | CA372344125 | DENND3 | c.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 | |
8 | g.141168311G>T | CA372344126 | DENND3 | c.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 | |
8 | g.141168312T>A | CA372344127 | DENND3 | c.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 | |
8 | g.141168312T>C | CA372344128 | DENND3 | c.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 | |
8 | g.141168312T>G | CA372344129 | DENND3 | c.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 | |
8 | g.141168313G>A | CA372344130 | DENND3 | c.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 | |
8 | g.141168313G>C | CA372344131 | DENND3 | c.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 | |
8 | g.141168313G>T | CA372344132 | DENND3 | c.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 | |
8 | g.141168315dup | CA2839052565 | DENND3 | c.2065dup (p.Glu689GlyfsTer4) c.1825dup (p.Glu609GlyfsTer4) c.1669dup (p.Glu557GlyfsTer4) c.1838dup n.1606dup c.1864dup (p.Glu622GlyfsTer4) c.1708dup (p.Glu570GlyfsTer4) c.1831dup (p.Glu611GlyfsTer4) c.1321dup (p.Glu441GlyfsTer4) c.1498dup (p.Glu500GlyfsTer4) c.1492dup (p.Glu498GlyfsTer4) c.1033dup (p.Glu345GlyfsTer4) c.562dup (p.Glu188GlyfsTer4) n.1994dup n.2161dup c.1909dup (p.Glu637GlyfsTer4) c.601dup (p.Glu201GlyfsTer4) n.2211dup n.2184dup | |
8 | g.141168314G>A | CA372344133 | DENND3 | c.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 | |
8 | g.141168314G>C | CA372344134 | DENND3 | c.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 | |
8 | g.141168314G>T | CA372344135 | DENND3 | c.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 | |
8 | g.141168315G>A | CA372344136 | DENND3 | c.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 | |
8 | g.141168315G>C | CA372344137 | DENND3 | c.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 |
8 | g.141168315G>T | CA372344138 | DENND3 | c.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 | |
8 | g.141168316A>C | CA372344140 | DENND3 | c.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 | |
8 | g.141168316A>G | CA372344141 | DENND3 | c.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 |
8 | g.141168316A>T | CA372344139 | DENND3 | c.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 | |
8 | g.141168317G>A | CA463496938 | DENND3 | c.2067G>A (p.Glu689=) c.1827G>A (p.Glu609=) c.1671G>A (p.Glu557=) c.1840G>A n.1608G>A c.1866G>A (p.Glu622=) c.1710G>A (p.Glu570=) c.1833G>A (p.Glu611=) c.1323G>A (p.Glu441=) c.1500G>A (p.Glu500=) c.1494G>A (p.Glu498=) c.1035G>A (p.Glu345=) c.564G>A (p.Glu188=) n.1996G>A n.2163G>A c.1911G>A (p.Glu637=) c.603G>A (p.Glu201=) n.2213G>A n.2186G>A | gnomAD v4 |
8 | g.141168317G>C | CA372344142 | DENND3 | c.2067G>C (p.Glu689Asp) c.1827G>C (p.Glu609Asp) c.1671G>C (p.Glu557Asp) c.1840G>C n.1608G>C c.1866G>C (p.Glu622Asp) c.1710G>C (p.Glu570Asp) c.1833G>C (p.Glu611Asp) c.1323G>C (p.Glu441Asp) c.1500G>C (p.Glu500Asp) c.1494G>C (p.Glu498Asp) c.1035G>C (p.Glu345Asp) c.564G>C (p.Glu188Asp) n.1996G>C n.2163G>C c.1911G>C (p.Glu637Asp) c.603G>C (p.Glu201Asp) n.2213G>C n.2186G>C | |
8 | g.141168317G>T | CA372344143 | DENND3 | c.2067G>T (p.Glu689Asp) c.1827G>T (p.Glu609Asp) c.1671G>T (p.Glu557Asp) c.1840G>T n.1608G>T c.1866G>T (p.Glu622Asp) c.1710G>T (p.Glu570Asp) c.1833G>T (p.Glu611Asp) c.1323G>T (p.Glu441Asp) c.1500G>T (p.Glu500Asp) c.1494G>T (p.Glu498Asp) c.1035G>T (p.Glu345Asp) c.564G>T (p.Glu188Asp) n.1996G>T n.2163G>T c.1911G>T (p.Glu637Asp) c.603G>T (p.Glu201Asp) n.2213G>T n.2186G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168321del | CA2688780327 | DENND3 | c.2071del (p.Ala691LeufsTer7) c.1831del (p.Ala611LeufsTer7) c.1675del (p.Ala559LeufsTer7) c.1844del n.1612del c.1870del (p.Ala624LeufsTer7) c.1714del (p.Ala572LeufsTer7) c.1837del (p.Ala613LeufsTer7) c.1327del (p.Ala443LeufsTer7) c.1504del (p.Ala502LeufsTer7) c.1498del (p.Ala500LeufsTer7) c.1039del (p.Ala347LeufsTer7) c.568del (p.Ala190LeufsTer7) n.2000del n.2167del c.1915del (p.Ala639LeufsTer7) c.607del (p.Ala203LeufsTer7) n.2217del n.2190del | gnomAD v4 |
8 | g.141168318G>A | CA4896800 | DENND3 | c.2068G>A (p.Gly690Arg) c.1828G>A (p.Gly610Arg) c.1672G>A (p.Gly558Arg) c.1841G>A n.1609G>A c.1867G>A (p.Gly623Arg) c.1711G>A (p.Gly571Arg) c.1834G>A (p.Gly612Arg) c.1324G>A (p.Gly442Arg) c.1501G>A (p.Gly501Arg) c.1495G>A (p.Gly499Arg) c.1036G>A (p.Gly346Arg) c.565G>A (p.Gly189Arg) n.1997G>A n.2164G>A c.1912G>A (p.Gly638Arg) c.604G>A (p.Gly202Arg) n.2214G>A n.2187G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168318G>C | CA372344144 | DENND3 | c.2068G>C (p.Gly690Arg) c.1828G>C (p.Gly610Arg) c.1672G>C (p.Gly558Arg) c.1841G>C n.1609G>C c.1867G>C (p.Gly623Arg) c.1711G>C (p.Gly571Arg) c.1834G>C (p.Gly612Arg) c.1324G>C (p.Gly442Arg) c.1501G>C (p.Gly501Arg) c.1495G>C (p.Gly499Arg) c.1036G>C (p.Gly346Arg) c.565G>C (p.Gly189Arg) n.1997G>C n.2164G>C c.1912G>C (p.Gly638Arg) c.604G>C (p.Gly202Arg) n.2214G>C n.2187G>C | dbSNP |
8 | g.141168318G>T | CA372344145 | DENND3 | c.2068G>T (p.Gly690Trp) c.1828G>T (p.Gly610Trp) c.1672G>T (p.Gly558Trp) c.1841G>T n.1609G>T c.1867G>T (p.Gly623Trp) c.1711G>T (p.Gly571Trp) c.1834G>T (p.Gly612Trp) c.1324G>T (p.Gly442Trp) c.1501G>T (p.Gly501Trp) c.1495G>T (p.Gly499Trp) c.1036G>T (p.Gly346Trp) c.565G>T (p.Gly189Trp) n.1997G>T n.2164G>T c.1912G>T (p.Gly638Trp) c.604G>T (p.Gly202Trp) n.2214G>T n.2187G>T | |
8 | g.141168320_141168336dup | CA2579262222 | DENND3 | c.2070_2086dup (p.Glu696GlyfsTer8) c.1830_1846dup (p.Glu616GlyfsTer8) c.1674_1690dup (p.Glu564GlyfsTer8) c.1843_1859dup n.1611_1627dup c.1869_1885dup (p.Glu629GlyfsTer8) c.1713_1729dup (p.Glu577GlyfsTer8) c.1836_1852dup (p.Glu618GlyfsTer8) c.1326_1342dup (p.Glu448GlyfsTer8) c.1503_1519dup (p.Glu507GlyfsTer8) c.1497_1513dup (p.Glu505GlyfsTer8) c.1038_1054dup (p.Glu352GlyfsTer8) c.567_583dup (p.Glu195GlyfsTer8) n.1999_2015dup n.2166_2182dup c.1914_1930dup (p.Glu644GlyfsTer8) c.606_622dup (p.Glu208GlyfsTer8) n.2216_2232dup n.2189_2205dup | gnomAD v4 |
8 | g.141168319G>A | CA372344148 | DENND3 | c.2069G>A (p.Gly690Glu) c.1829G>A (p.Gly610Glu) c.1673G>A (p.Gly558Glu) c.1842G>A n.1610G>A c.1868G>A (p.Gly623Glu) c.1712G>A (p.Gly571Glu) c.1835G>A (p.Gly612Glu) c.1325G>A (p.Gly442Glu) c.1502G>A (p.Gly501Glu) c.1496G>A (p.Gly499Glu) c.1037G>A (p.Gly346Glu) c.566G>A (p.Gly189Glu) n.1998G>A n.2165G>A c.1913G>A (p.Gly638Glu) c.605G>A (p.Gly202Glu) n.2215G>A n.2188G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168319G>C | CA372344147 | DENND3 | c.2069G>C (p.Gly690Ala) c.1829G>C (p.Gly610Ala) c.1673G>C (p.Gly558Ala) c.1842G>C n.1610G>C c.1868G>C (p.Gly623Ala) c.1712G>C (p.Gly571Ala) c.1835G>C (p.Gly612Ala) c.1325G>C (p.Gly442Ala) c.1502G>C (p.Gly501Ala) c.1496G>C (p.Gly499Ala) c.1037G>C (p.Gly346Ala) c.566G>C (p.Gly189Ala) n.1998G>C n.2165G>C c.1913G>C (p.Gly638Ala) c.605G>C (p.Gly202Ala) n.2215G>C n.2188G>C | |
8 | g.141168319G>T | CA372344146 | DENND3 | c.2069G>T (p.Gly690Val) c.1829G>T (p.Gly610Val) c.1673G>T (p.Gly558Val) c.1842G>T n.1610G>T c.1868G>T (p.Gly623Val) c.1712G>T (p.Gly571Val) c.1835G>T (p.Gly612Val) c.1325G>T (p.Gly442Val) c.1502G>T (p.Gly501Val) c.1496G>T (p.Gly499Val) c.1037G>T (p.Gly346Val) c.566G>T (p.Gly189Val) n.1998G>T n.2165G>T c.1913G>T (p.Gly638Val) c.605G>T (p.Gly202Val) n.2215G>T n.2188G>T | |
8 | g.141168320G>A | CA463496939 | DENND3 | c.2070G>A (p.Gly690=) c.1830G>A (p.Gly610=) c.1674G>A (p.Gly558=) c.1843G>A n.1611G>A c.1869G>A (p.Gly623=) c.1713G>A (p.Gly571=) c.1836G>A (p.Gly612=) c.1326G>A (p.Gly442=) c.1503G>A (p.Gly501=) c.1497G>A (p.Gly499=) c.1038G>A (p.Gly346=) c.567G>A (p.Gly189=) n.1999G>A n.2166G>A c.1914G>A (p.Gly638=) c.606G>A (p.Gly202=) n.2216G>A n.2189G>A | |
8 | g.141168320G>C | CA463496940 | DENND3 | c.2070G>C (p.Gly690=) c.1830G>C (p.Gly610=) c.1674G>C (p.Gly558=) c.1843G>C n.1611G>C c.1869G>C (p.Gly623=) c.1713G>C (p.Gly571=) c.1836G>C (p.Gly612=) c.1326G>C (p.Gly442=) c.1503G>C (p.Gly501=) c.1497G>C (p.Gly499=) c.1038G>C (p.Gly346=) c.567G>C (p.Gly189=) n.1999G>C n.2166G>C c.1914G>C (p.Gly638=) c.606G>C (p.Gly202=) n.2216G>C n.2189G>C | |
8 | g.141168320G>T | CA463496941 | DENND3 | c.2070G>T (p.Gly690=) c.1830G>T (p.Gly610=) c.1674G>T (p.Gly558=) c.1843G>T n.1611G>T c.1869G>T (p.Gly623=) c.1713G>T (p.Gly571=) c.1836G>T (p.Gly612=) c.1326G>T (p.Gly442=) c.1503G>T (p.Gly501=) c.1497G>T (p.Gly499=) c.1038G>T (p.Gly346=) c.567G>T (p.Gly189=) n.1999G>T n.2166G>T c.1914G>T (p.Gly638=) c.606G>T (p.Gly202=) n.2216G>T n.2189G>T | |
8 | g.141168321G>A | CA372344149 | DENND3 | c.2071G>A (p.Ala691Thr) c.1831G>A (p.Ala611Thr) c.1675G>A (p.Ala559Thr) c.1844G>A n.1612G>A c.1870G>A (p.Ala624Thr) c.1714G>A (p.Ala572Thr) c.1837G>A (p.Ala613Thr) c.1327G>A (p.Ala443Thr) c.1504G>A (p.Ala502Thr) c.1498G>A (p.Ala500Thr) c.1039G>A (p.Ala347Thr) c.568G>A (p.Ala190Thr) n.2000G>A n.2167G>A c.1915G>A (p.Ala639Thr) c.607G>A (p.Ala203Thr) n.2217G>A n.2190G>A | dbSNP |
8 | g.141168321G>C | CA372344150 | DENND3 | c.2071G>C (p.Ala691Pro) c.1831G>C (p.Ala611Pro) c.1675G>C (p.Ala559Pro) c.1844G>C n.1612G>C c.1870G>C (p.Ala624Pro) c.1714G>C (p.Ala572Pro) c.1837G>C (p.Ala613Pro) c.1327G>C (p.Ala443Pro) c.1504G>C (p.Ala502Pro) c.1498G>C (p.Ala500Pro) c.1039G>C (p.Ala347Pro) c.568G>C (p.Ala190Pro) n.2000G>C n.2167G>C c.1915G>C (p.Ala639Pro) c.607G>C (p.Ala203Pro) n.2217G>C n.2190G>C | |
8 | g.141168321G>T | CA372344151 | DENND3 | c.2071G>T (p.Ala691Ser) c.1831G>T (p.Ala611Ser) c.1675G>T (p.Ala559Ser) c.1844G>T n.1612G>T c.1870G>T (p.Ala624Ser) c.1714G>T (p.Ala572Ser) c.1837G>T (p.Ala613Ser) c.1327G>T (p.Ala443Ser) c.1504G>T (p.Ala502Ser) c.1498G>T (p.Ala500Ser) c.1039G>T (p.Ala347Ser) c.568G>T (p.Ala190Ser) n.2000G>T n.2167G>T c.1915G>T (p.Ala639Ser) c.607G>T (p.Ala203Ser) n.2217G>T n.2190G>T | |
8 | g.141168322C>A | CA372344152 | DENND3 | c.2072C>A (p.Ala691Asp) c.1832C>A (p.Ala611Asp) c.1676C>A (p.Ala559Asp) c.1845C>A n.1613C>A c.1871C>A (p.Ala624Asp) c.1715C>A (p.Ala572Asp) c.1838C>A (p.Ala613Asp) c.1328C>A (p.Ala443Asp) c.1505C>A (p.Ala502Asp) c.1499C>A (p.Ala500Asp) c.1040C>A (p.Ala347Asp) c.569C>A (p.Ala190Asp) n.2001C>A n.2168C>A c.1916C>A (p.Ala639Asp) c.608C>A (p.Ala203Asp) n.2218C>A n.2191C>A | |
8 | g.141168322C>G | CA372344153 | DENND3 | c.2072C>G (p.Ala691Gly) c.1832C>G (p.Ala611Gly) c.1676C>G (p.Ala559Gly) c.1845C>G n.1613C>G c.1871C>G (p.Ala624Gly) c.1715C>G (p.Ala572Gly) c.1838C>G (p.Ala613Gly) c.1328C>G (p.Ala443Gly) c.1505C>G (p.Ala502Gly) c.1499C>G (p.Ala500Gly) c.1040C>G (p.Ala347Gly) c.569C>G (p.Ala190Gly) n.2001C>G n.2168C>G c.1916C>G (p.Ala639Gly) c.608C>G (p.Ala203Gly) n.2218C>G n.2191C>G | |
8 | g.141168322C>T | CA372344154 | DENND3 | c.2072C>T (p.Ala691Val) c.1832C>T (p.Ala611Val) c.1676C>T (p.Ala559Val) c.1845C>T n.1613C>T c.1871C>T (p.Ala624Val) c.1715C>T (p.Ala572Val) c.1838C>T (p.Ala613Val) c.1328C>T (p.Ala443Val) c.1505C>T (p.Ala502Val) c.1499C>T (p.Ala500Val) c.1040C>T (p.Ala347Val) c.569C>T (p.Ala190Val) n.2001C>T n.2168C>T c.1916C>T (p.Ala639Val) c.608C>T (p.Ala203Val) n.2218C>T n.2191C>T | |
8 | g.141168323T>A | CA463496942 | DENND3 | c.2073T>A (p.Ala691=) c.1833T>A (p.Ala611=) c.1677T>A (p.Ala559=) c.1846T>A n.1614T>A c.1872T>A (p.Ala624=) c.1716T>A (p.Ala572=) c.1839T>A (p.Ala613=) c.1329T>A (p.Ala443=) c.1506T>A (p.Ala502=) c.1500T>A (p.Ala500=) c.1041T>A (p.Ala347=) c.570T>A (p.Ala190=) n.2002T>A n.2169T>A c.1917T>A (p.Ala639=) c.609T>A (p.Ala203=) n.2219T>A n.2192T>A | |
8 | g.141168323T>C | CA463496943 | DENND3 | c.2073T>C (p.Ala691=) c.1833T>C (p.Ala611=) c.1677T>C (p.Ala559=) c.1846T>C n.1614T>C c.1872T>C (p.Ala624=) c.1716T>C (p.Ala572=) c.1839T>C (p.Ala613=) c.1329T>C (p.Ala443=) c.1506T>C (p.Ala502=) c.1500T>C (p.Ala500=) c.1041T>C (p.Ala347=) c.570T>C (p.Ala190=) n.2002T>C n.2169T>C c.1917T>C (p.Ala639=) c.609T>C (p.Ala203=) n.2219T>C n.2192T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168323T>G | CA463496944 | DENND3 | c.2073T>G (p.Ala691=) c.1833T>G (p.Ala611=) c.1677T>G (p.Ala559=) c.1846T>G n.1614T>G c.1872T>G (p.Ala624=) c.1716T>G (p.Ala572=) c.1839T>G (p.Ala613=) c.1329T>G (p.Ala443=) c.1506T>G (p.Ala502=) c.1500T>G (p.Ala500=) c.1041T>G (p.Ala347=) c.570T>G (p.Ala190=) n.2002T>G n.2169T>G c.1917T>G (p.Ala639=) c.609T>G (p.Ala203=) n.2219T>G n.2192T>G | |
8 | g.141168324G>A | CA372344157 | DENND3 | c.2074G>A (p.Glu692Lys) c.1834G>A (p.Glu612Lys) c.1678G>A (p.Glu560Lys) c.1847G>A n.1615G>A c.1873G>A (p.Glu625Lys) c.1717G>A (p.Glu573Lys) c.1840G>A (p.Glu614Lys) c.1330G>A (p.Glu444Lys) c.1507G>A (p.Glu503Lys) c.1501G>A (p.Glu501Lys) c.1042G>A (p.Glu348Lys) c.571G>A (p.Glu191Lys) n.2003G>A n.2170G>A c.1918G>A (p.Glu640Lys) c.610G>A (p.Glu204Lys) n.2220G>A n.2193G>A | gnomAD v4 |
8 | g.141168324G>C | CA372344155 | DENND3 | c.2074G>C (p.Glu692Gln) c.1834G>C (p.Glu612Gln) c.1678G>C (p.Glu560Gln) c.1847G>C n.1615G>C c.1873G>C (p.Glu625Gln) c.1717G>C (p.Glu573Gln) c.1840G>C (p.Glu614Gln) c.1330G>C (p.Glu444Gln) c.1507G>C (p.Glu503Gln) c.1501G>C (p.Glu501Gln) c.1042G>C (p.Glu348Gln) c.571G>C (p.Glu191Gln) n.2003G>C n.2170G>C c.1918G>C (p.Glu640Gln) c.610G>C (p.Glu204Gln) n.2220G>C n.2193G>C | |
8 | g.141168324G>T | CA372344156 | DENND3 | c.2074G>T (p.Glu692Ter) c.1834G>T (p.Glu612Ter) c.1678G>T (p.Glu560Ter) c.1847G>T n.1615G>T c.1873G>T (p.Glu625Ter) c.1717G>T (p.Glu573Ter) c.1840G>T (p.Glu614Ter) c.1330G>T (p.Glu444Ter) c.1507G>T (p.Glu503Ter) c.1501G>T (p.Glu501Ter) c.1042G>T (p.Glu348Ter) c.571G>T (p.Glu191Ter) n.2003G>T n.2170G>T c.1918G>T (p.Glu640Ter) c.610G>T (p.Glu204Ter) n.2220G>T n.2193G>T | COSMIC |
8 | g.141168325A>C | CA372344158 | DENND3 | c.2075A>C (p.Glu692Ala) c.1835A>C (p.Glu612Ala) c.1679A>C (p.Glu560Ala) c.1848A>C n.1616A>C c.1874A>C (p.Glu625Ala) c.1718A>C (p.Glu573Ala) c.1841A>C (p.Glu614Ala) c.1331A>C (p.Glu444Ala) c.1508A>C (p.Glu503Ala) c.1502A>C (p.Glu501Ala) c.1043A>C (p.Glu348Ala) c.572A>C (p.Glu191Ala) n.2004A>C n.2171A>C c.1919A>C (p.Glu640Ala) c.611A>C (p.Glu204Ala) n.2221A>C n.2194A>C | |
8 | g.141168325A>G | CA372344159 | DENND3 | c.2075A>G (p.Glu692Gly) c.1835A>G (p.Glu612Gly) c.1679A>G (p.Glu560Gly) c.1848A>G n.1616A>G c.1874A>G (p.Glu625Gly) c.1718A>G (p.Glu573Gly) c.1841A>G (p.Glu614Gly) c.1331A>G (p.Glu444Gly) c.1508A>G (p.Glu503Gly) c.1502A>G (p.Glu501Gly) c.1043A>G (p.Glu348Gly) c.572A>G (p.Glu191Gly) n.2004A>G n.2171A>G c.1919A>G (p.Glu640Gly) c.611A>G (p.Glu204Gly) n.2221A>G n.2194A>G | |
8 | g.141168325A>T | CA372344160 | DENND3 | c.2075A>T (p.Glu692Val) c.1835A>T (p.Glu612Val) c.1679A>T (p.Glu560Val) c.1848A>T n.1616A>T c.1874A>T (p.Glu625Val) c.1718A>T (p.Glu573Val) c.1841A>T (p.Glu614Val) c.1331A>T (p.Glu444Val) c.1508A>T (p.Glu503Val) c.1502A>T (p.Glu501Val) c.1043A>T (p.Glu348Val) c.572A>T (p.Glu191Val) n.2004A>T n.2171A>T c.1919A>T (p.Glu640Val) c.611A>T (p.Glu204Val) n.2221A>T n.2194A>T | |
8 | g.141168326G>A | CA463496945 | DENND3 | c.2076G>A (p.Glu692=) c.1836G>A (p.Glu612=) c.1680G>A (p.Glu560=) c.1849G>A n.1617G>A c.1875G>A (p.Glu625=) c.1719G>A (p.Glu573=) c.1842G>A (p.Glu614=) c.1332G>A (p.Glu444=) c.1509G>A (p.Glu503=) c.1503G>A (p.Glu501=) c.1044G>A (p.Glu348=) c.573G>A (p.Glu191=) n.2005G>A n.2172G>A c.1920G>A (p.Glu640=) c.612G>A (p.Glu204=) n.2222G>A n.2195G>A | |
8 | g.141168326G>C | CA372344161 | DENND3 | c.2076G>C (p.Glu692Asp) c.1836G>C (p.Glu612Asp) c.1680G>C (p.Glu560Asp) c.1849G>C n.1617G>C c.1875G>C (p.Glu625Asp) c.1719G>C (p.Glu573Asp) c.1842G>C (p.Glu614Asp) c.1332G>C (p.Glu444Asp) c.1509G>C (p.Glu503Asp) c.1503G>C (p.Glu501Asp) c.1044G>C (p.Glu348Asp) c.573G>C (p.Glu191Asp) n.2005G>C n.2172G>C c.1920G>C (p.Glu640Asp) c.612G>C (p.Glu204Asp) n.2222G>C n.2195G>C | |
8 | g.141168326G>T | CA372344162 | DENND3 | c.2076G>T (p.Glu692Asp) c.1836G>T (p.Glu612Asp) c.1680G>T (p.Glu560Asp) c.1849G>T n.1617G>T c.1875G>T (p.Glu625Asp) c.1719G>T (p.Glu573Asp) c.1842G>T (p.Glu614Asp) c.1332G>T (p.Glu444Asp) c.1509G>T (p.Glu503Asp) c.1503G>T (p.Glu501Asp) c.1044G>T (p.Glu348Asp) c.573G>T (p.Glu191Asp) n.2005G>T n.2172G>T c.1920G>T (p.Glu640Asp) c.612G>T (p.Glu204Asp) n.2222G>T n.2195G>T | |
8 | g.141168327C>A | CA372344163 | DENND3 | c.2077C>A (p.Gln693Lys) c.1837C>A (p.Gln613Lys) c.1681C>A (p.Gln561Lys) c.1850C>A n.1618C>A c.1876C>A (p.Gln626Lys) c.1720C>A (p.Gln574Lys) c.1843C>A (p.Gln615Lys) c.1333C>A (p.Gln445Lys) c.1510C>A (p.Gln504Lys) c.1504C>A (p.Gln502Lys) c.1045C>A (p.Gln349Lys) c.574C>A (p.Gln192Lys) n.2006C>A n.2173C>A c.1921C>A (p.Gln641Lys) c.613C>A (p.Gln205Lys) n.2223C>A n.2196C>A | gnomAD v4 |
8 | g.141168327C>G | CA372344164 | DENND3 | c.2077C>G (p.Gln693Glu) c.1837C>G (p.Gln613Glu) c.1681C>G (p.Gln561Glu) c.1850C>G n.1618C>G c.1876C>G (p.Gln626Glu) c.1720C>G (p.Gln574Glu) c.1843C>G (p.Gln615Glu) c.1333C>G (p.Gln445Glu) c.1510C>G (p.Gln504Glu) c.1504C>G (p.Gln502Glu) c.1045C>G (p.Gln349Glu) c.574C>G (p.Gln192Glu) n.2006C>G n.2173C>G c.1921C>G (p.Gln641Glu) c.613C>G (p.Gln205Glu) n.2223C>G n.2196C>G | |
8 | g.141168327C>T | CA372344165 | DENND3 | c.2077C>T (p.Gln693Ter) c.1837C>T (p.Gln613Ter) c.1681C>T (p.Gln561Ter) c.1850C>T n.1618C>T c.1876C>T (p.Gln626Ter) c.1720C>T (p.Gln574Ter) c.1843C>T (p.Gln615Ter) c.1333C>T (p.Gln445Ter) c.1510C>T (p.Gln504Ter) c.1504C>T (p.Gln502Ter) c.1045C>T (p.Gln349Ter) c.574C>T (p.Gln192Ter) n.2006C>T n.2173C>T c.1921C>T (p.Gln641Ter) c.613C>T (p.Gln205Ter) n.2223C>T n.2196C>T | gnomAD v4 |
8 | g.141168328A>C | CA372344166 | DENND3 | c.2078A>C (p.Gln693Pro) c.1838A>C (p.Gln613Pro) c.1682A>C (p.Gln561Pro) c.1851A>C n.1619A>C c.1877A>C (p.Gln626Pro) c.1721A>C (p.Gln574Pro) c.1844A>C (p.Gln615Pro) c.1334A>C (p.Gln445Pro) c.1511A>C (p.Gln504Pro) c.1505A>C (p.Gln502Pro) c.1046A>C (p.Gln349Pro) c.575A>C (p.Gln192Pro) n.2007A>C n.2174A>C c.1922A>C (p.Gln641Pro) c.614A>C (p.Gln205Pro) n.2224A>C n.2197A>C | |
8 | g.141168328A>G | CA372344167 | DENND3 | c.2078A>G (p.Gln693Arg) c.1838A>G (p.Gln613Arg) c.1682A>G (p.Gln561Arg) c.1851A>G n.1619A>G c.1877A>G (p.Gln626Arg) c.1721A>G (p.Gln574Arg) c.1844A>G (p.Gln615Arg) c.1334A>G (p.Gln445Arg) c.1511A>G (p.Gln504Arg) c.1505A>G (p.Gln502Arg) c.1046A>G (p.Gln349Arg) c.575A>G (p.Gln192Arg) n.2007A>G n.2174A>G c.1922A>G (p.Gln641Arg) c.614A>G (p.Gln205Arg) n.2224A>G n.2197A>G | |
8 | g.141168328A>T | CA372344168 | DENND3 | c.2078A>T (p.Gln693Leu) c.1838A>T (p.Gln613Leu) c.1682A>T (p.Gln561Leu) c.1851A>T n.1619A>T c.1877A>T (p.Gln626Leu) c.1721A>T (p.Gln574Leu) c.1844A>T (p.Gln615Leu) c.1334A>T (p.Gln445Leu) c.1511A>T (p.Gln504Leu) c.1505A>T (p.Gln502Leu) c.1046A>T (p.Gln349Leu) c.575A>T (p.Gln192Leu) n.2007A>T n.2174A>T c.1922A>T (p.Gln641Leu) c.614A>T (p.Gln205Leu) n.2224A>T n.2197A>T | |
8 | g.141168329G>A | CA187325757 | DENND3 | c.2079G>A (p.Gln693=) c.1839G>A (p.Gln613=) c.1683G>A (p.Gln561=) c.1852G>A n.1620G>A c.1878G>A (p.Gln626=) c.1722G>A (p.Gln574=) c.1845G>A (p.Gln615=) c.1335G>A (p.Gln445=) c.1512G>A (p.Gln504=) c.1506G>A (p.Gln502=) c.1047G>A (p.Gln349=) c.576G>A (p.Gln192=) n.2008G>A n.2175G>A c.1923G>A (p.Gln641=) c.615G>A (p.Gln205=) n.2225G>A n.2198G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168329G>C | CA372344169 | DENND3 | c.2079G>C (p.Gln693His) c.1839G>C (p.Gln613His) c.1683G>C (p.Gln561His) c.1852G>C n.1620G>C c.1878G>C (p.Gln626His) c.1722G>C (p.Gln574His) c.1845G>C (p.Gln615His) c.1335G>C (p.Gln445His) c.1512G>C (p.Gln504His) c.1506G>C (p.Gln502His) c.1047G>C (p.Gln349His) c.576G>C (p.Gln192His) n.2008G>C n.2175G>C c.1923G>C (p.Gln641His) c.615G>C (p.Gln205His) n.2225G>C n.2198G>C | |
8 | g.141168329G>T | CA372344170 | DENND3 | c.2079G>T (p.Gln693His) c.1839G>T (p.Gln613His) c.1683G>T (p.Gln561His) c.1852G>T n.1620G>T c.1878G>T (p.Gln626His) c.1722G>T (p.Gln574His) c.1845G>T (p.Gln615His) c.1335G>T (p.Gln445His) c.1512G>T (p.Gln504His) c.1506G>T (p.Gln502His) c.1047G>T (p.Gln349His) c.576G>T (p.Gln192His) n.2008G>T n.2175G>T c.1923G>T (p.Gln641His) c.615G>T (p.Gln205His) n.2225G>T n.2198G>T | gnomAD v4 |
8 | g.141168330G>A | CA372344173 | DENND3 | c.2080G>A (p.Ala694Thr) c.1840G>A (p.Ala614Thr) c.1684G>A (p.Ala562Thr) c.1853G>A n.1621G>A c.1879G>A (p.Ala627Thr) c.1723G>A (p.Ala575Thr) c.1846G>A (p.Ala616Thr) c.1336G>A (p.Ala446Thr) c.1513G>A (p.Ala505Thr) c.1507G>A (p.Ala503Thr) c.1048G>A (p.Ala350Thr) c.577G>A (p.Ala193Thr) n.2009G>A n.2176G>A c.1924G>A (p.Ala642Thr) c.616G>A (p.Ala206Thr) n.2226G>A n.2199G>A | |
8 | g.141168330G>C | CA372344171 | DENND3 | c.2080G>C (p.Ala694Pro) c.1840G>C (p.Ala614Pro) c.1684G>C (p.Ala562Pro) c.1853G>C n.1621G>C c.1879G>C (p.Ala627Pro) c.1723G>C (p.Ala575Pro) c.1846G>C (p.Ala616Pro) c.1336G>C (p.Ala446Pro) c.1513G>C (p.Ala505Pro) c.1507G>C (p.Ala503Pro) c.1048G>C (p.Ala350Pro) c.577G>C (p.Ala193Pro) n.2009G>C n.2176G>C c.1924G>C (p.Ala642Pro) c.616G>C (p.Ala206Pro) n.2226G>C n.2199G>C | |
8 | g.141168330G>T | CA372344172 | DENND3 | c.2080G>T (p.Ala694Ser) c.1840G>T (p.Ala614Ser) c.1684G>T (p.Ala562Ser) c.1853G>T n.1621G>T c.1879G>T (p.Ala627Ser) c.1723G>T (p.Ala575Ser) c.1846G>T (p.Ala616Ser) c.1336G>T (p.Ala446Ser) c.1513G>T (p.Ala505Ser) c.1507G>T (p.Ala503Ser) c.1048G>T (p.Ala350Ser) c.577G>T (p.Ala193Ser) n.2009G>T n.2176G>T c.1924G>T (p.Ala642Ser) c.616G>T (p.Ala206Ser) n.2226G>T n.2199G>T | dbSNP gnomAD v4 |
8 | g.141168331C>A | CA372344174 | DENND3 | c.2081C>A (p.Ala694Glu) c.1841C>A (p.Ala614Glu) c.1685C>A (p.Ala562Glu) c.1854C>A n.1622C>A c.1880C>A (p.Ala627Glu) c.1724C>A (p.Ala575Glu) c.1847C>A (p.Ala616Glu) c.1337C>A (p.Ala446Glu) c.1514C>A (p.Ala505Glu) c.1508C>A (p.Ala503Glu) c.1049C>A (p.Ala350Glu) c.578C>A (p.Ala193Glu) n.2010C>A n.2177C>A c.1925C>A (p.Ala642Glu) c.617C>A (p.Ala206Glu) n.2227C>A n.2200C>A | gnomAD v4 |
8 | g.141168331C>G | CA372344175 | DENND3 | c.2081C>G (p.Ala694Gly) c.1841C>G (p.Ala614Gly) c.1685C>G (p.Ala562Gly) c.1854C>G n.1622C>G c.1880C>G (p.Ala627Gly) c.1724C>G (p.Ala575Gly) c.1847C>G (p.Ala616Gly) c.1337C>G (p.Ala446Gly) c.1514C>G (p.Ala505Gly) c.1508C>G (p.Ala503Gly) c.1049C>G (p.Ala350Gly) c.578C>G (p.Ala193Gly) n.2010C>G n.2177C>G c.1925C>G (p.Ala642Gly) c.617C>G (p.Ala206Gly) n.2227C>G n.2200C>G | |
8 | g.141168331C>T | CA4896801 | DENND3 | c.2081C>T (p.Ala694Val) c.1841C>T (p.Ala614Val) c.1685C>T (p.Ala562Val) c.1854C>T n.1622C>T c.1880C>T (p.Ala627Val) c.1724C>T (p.Ala575Val) c.1847C>T (p.Ala616Val) c.1337C>T (p.Ala446Val) c.1514C>T (p.Ala505Val) c.1508C>T (p.Ala503Val) c.1049C>T (p.Ala350Val) c.578C>T (p.Ala193Val) n.2010C>T n.2177C>T c.1925C>T (p.Ala642Val) c.617C>T (p.Ala206Val) n.2227C>T n.2200C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168332G>A | CA187325764 | DENND3 | c.2082G>A (p.Ala694=) c.1842G>A (p.Ala614=) c.1686G>A (p.Ala562=) c.1855G>A n.1623G>A c.1881G>A (p.Ala627=) c.1725G>A (p.Ala575=) c.1848G>A (p.Ala616=) c.1338G>A (p.Ala446=) c.1515G>A (p.Ala505=) c.1509G>A (p.Ala503=) c.1050G>A (p.Ala350=) c.579G>A (p.Ala193=) n.2011G>A n.2178G>A c.1926G>A (p.Ala642=) c.618G>A (p.Ala206=) n.2228G>A n.2201G>A | dbSNP gnomAD v4 |
8 | g.141168332G>C | CA463496946 | DENND3 | c.2082G>C (p.Ala694=) c.1842G>C (p.Ala614=) c.1686G>C (p.Ala562=) c.1855G>C n.1623G>C c.1881G>C (p.Ala627=) c.1725G>C (p.Ala575=) c.1848G>C (p.Ala616=) c.1338G>C (p.Ala446=) c.1515G>C (p.Ala505=) c.1509G>C (p.Ala503=) c.1050G>C (p.Ala350=) c.579G>C (p.Ala193=) n.2011G>C n.2178G>C c.1926G>C (p.Ala642=) c.618G>C (p.Ala206=) n.2228G>C n.2201G>C | |
8 | g.141168332G>T | CA463496947 | DENND3 | c.2082G>T (p.Ala694=) c.1842G>T (p.Ala614=) c.1686G>T (p.Ala562=) c.1855G>T n.1623G>T c.1881G>T (p.Ala627=) c.1725G>T (p.Ala575=) c.1848G>T (p.Ala616=) c.1338G>T (p.Ala446=) c.1515G>T (p.Ala505=) c.1509G>T (p.Ala503=) c.1050G>T (p.Ala350=) c.579G>T (p.Ala193=) n.2011G>T n.2178G>T c.1926G>T (p.Ala642=) c.618G>T (p.Ala206=) n.2228G>T n.2201G>T | |
8 | g.141168333C>A | CA372344176 | DENND3 | c.2083C>A (p.Pro695Thr) c.1843C>A (p.Pro615Thr) c.1687C>A (p.Pro563Thr) c.1856C>A n.1624C>A c.1882C>A (p.Pro628Thr) c.1726C>A (p.Pro576Thr) c.1849C>A (p.Pro617Thr) c.1339C>A (p.Pro447Thr) c.1516C>A (p.Pro506Thr) c.1510C>A (p.Pro504Thr) c.1051C>A (p.Pro351Thr) c.580C>A (p.Pro194Thr) n.2012C>A n.2179C>A c.1927C>A (p.Pro643Thr) c.619C>A (p.Pro207Thr) n.2229C>A n.2202C>A | |
8 | g.141168333C>G | CA372344177 | DENND3 | c.2083C>G (p.Pro695Ala) c.1843C>G (p.Pro615Ala) c.1687C>G (p.Pro563Ala) c.1856C>G n.1624C>G c.1882C>G (p.Pro628Ala) c.1726C>G (p.Pro576Ala) c.1849C>G (p.Pro617Ala) c.1339C>G (p.Pro447Ala) c.1516C>G (p.Pro506Ala) c.1510C>G (p.Pro504Ala) c.1051C>G (p.Pro351Ala) c.580C>G (p.Pro194Ala) n.2012C>G n.2179C>G c.1927C>G (p.Pro643Ala) c.619C>G (p.Pro207Ala) n.2229C>G n.2202C>G | |
8 | g.141168333C>T | CA372344178 | DENND3 | c.2083C>T (p.Pro695Ser) c.1843C>T (p.Pro615Ser) c.1687C>T (p.Pro563Ser) c.1856C>T n.1624C>T c.1882C>T (p.Pro628Ser) c.1726C>T (p.Pro576Ser) c.1849C>T (p.Pro617Ser) c.1339C>T (p.Pro447Ser) c.1516C>T (p.Pro506Ser) c.1510C>T (p.Pro504Ser) c.1051C>T (p.Pro351Ser) c.580C>T (p.Pro194Ser) n.2012C>T n.2179C>T c.1927C>T (p.Pro643Ser) c.619C>T (p.Pro207Ser) n.2229C>T n.2202C>T | |
8 | g.141168334C>A | CA372344179 | DENND3 | c.2084C>A (p.Pro695Gln) c.1844C>A (p.Pro615Gln) c.1688C>A (p.Pro563Gln) c.1857C>A n.1625C>A c.1883C>A (p.Pro628Gln) c.1727C>A (p.Pro576Gln) c.1850C>A (p.Pro617Gln) c.1340C>A (p.Pro447Gln) c.1517C>A (p.Pro506Gln) c.1511C>A (p.Pro504Gln) c.1052C>A (p.Pro351Gln) c.581C>A (p.Pro194Gln) n.2013C>A n.2180C>A c.1928C>A (p.Pro643Gln) c.620C>A (p.Pro207Gln) n.2230C>A n.2203C>A | |
8 | g.141168334C>G | CA372344180 | DENND3 | c.2084C>G (p.Pro695Arg) c.1844C>G (p.Pro615Arg) c.1688C>G (p.Pro563Arg) c.1857C>G n.1625C>G c.1883C>G (p.Pro628Arg) c.1727C>G (p.Pro576Arg) c.1850C>G (p.Pro617Arg) c.1340C>G (p.Pro447Arg) c.1517C>G (p.Pro506Arg) c.1511C>G (p.Pro504Arg) c.1052C>G (p.Pro351Arg) c.581C>G (p.Pro194Arg) n.2013C>G n.2180C>G c.1928C>G (p.Pro643Arg) c.620C>G (p.Pro207Arg) n.2230C>G n.2203C>G | |
8 | g.141168334C>T | CA4896802 | DENND3 | c.2084C>T (p.Pro695Leu) c.1844C>T (p.Pro615Leu) c.1688C>T (p.Pro563Leu) c.1857C>T n.1625C>T c.1883C>T (p.Pro628Leu) c.1727C>T (p.Pro576Leu) c.1850C>T (p.Pro617Leu) c.1340C>T (p.Pro447Leu) c.1517C>T (p.Pro506Leu) c.1511C>T (p.Pro504Leu) c.1052C>T (p.Pro351Leu) c.581C>T (p.Pro194Leu) n.2013C>T n.2180C>T c.1928C>T (p.Pro643Leu) c.620C>T (p.Pro207Leu) n.2230C>T n.2203C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168335G>A | CA4896803 | DENND3 | c.2085G>A (p.Pro695=) c.1845G>A (p.Pro615=) c.1689G>A (p.Pro563=) c.1858G>A n.1626G>A c.1884G>A (p.Pro628=) c.1728G>A (p.Pro576=) c.1851G>A (p.Pro617=) c.1341G>A (p.Pro447=) c.1518G>A (p.Pro506=) c.1512G>A (p.Pro504=) c.1053G>A (p.Pro351=) c.582G>A (p.Pro194=) n.2014G>A n.2181G>A c.1929G>A (p.Pro643=) c.621G>A (p.Pro207=) n.2231G>A n.2204G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168335G>C | CA463496949 | DENND3 | c.2085G>C (p.Pro695=) c.1845G>C (p.Pro615=) c.1689G>C (p.Pro563=) c.1858G>C n.1626G>C c.1884G>C (p.Pro628=) c.1728G>C (p.Pro576=) c.1851G>C (p.Pro617=) c.1341G>C (p.Pro447=) c.1518G>C (p.Pro506=) c.1512G>C (p.Pro504=) c.1053G>C (p.Pro351=) c.582G>C (p.Pro194=) n.2014G>C n.2181G>C c.1929G>C (p.Pro643=) c.621G>C (p.Pro207=) n.2231G>C n.2204G>C | |
8 | g.141168335G>T | CA463496948 | DENND3 | c.2085G>T (p.Pro695=) c.1845G>T (p.Pro615=) c.1689G>T (p.Pro563=) c.1858G>T n.1626G>T c.1884G>T (p.Pro628=) c.1728G>T (p.Pro576=) c.1851G>T (p.Pro617=) c.1341G>T (p.Pro447=) c.1518G>T (p.Pro506=) c.1512G>T (p.Pro504=) c.1053G>T (p.Pro351=) c.582G>T (p.Pro194=) n.2014G>T n.2181G>T c.1929G>T (p.Pro643=) c.621G>T (p.Pro207=) n.2231G>T n.2204G>T | |
8 | g.141168336del | CA2497242493 | DENND3 | c.2086del (p.Glu696SerfsTer2) c.1846del (p.Glu616SerfsTer2) c.1690del (p.Glu564SerfsTer2) c.1859del n.1627del c.1885del (p.Glu629SerfsTer2) c.1729del (p.Glu577SerfsTer2) c.1852del (p.Glu618SerfsTer2) c.1342del (p.Glu448SerfsTer2) c.1519del (p.Glu507SerfsTer2) c.1513del (p.Glu505SerfsTer2) c.1054del (p.Glu352SerfsTer2) c.583del (p.Glu195SerfsTer2) n.2015del n.2182del c.1930del (p.Glu644SerfsTer2) c.622del (p.Glu208SerfsTer2) n.2232del n.2205del | dbSNP |
8 | g.141168336G>A | CA372344181 | DENND3 | c.2086G>A (p.Glu696Lys) c.1846G>A (p.Glu616Lys) c.1690G>A (p.Glu564Lys) c.1859G>A n.1627G>A c.1885G>A (p.Glu629Lys) c.1729G>A (p.Glu577Lys) c.1852G>A (p.Glu618Lys) c.1342G>A (p.Glu448Lys) c.1519G>A (p.Glu507Lys) c.1513G>A (p.Glu505Lys) c.1054G>A (p.Glu352Lys) c.583G>A (p.Glu195Lys) n.2015G>A n.2182G>A c.1930G>A (p.Glu644Lys) c.622G>A (p.Glu208Lys) n.2232G>A n.2205G>A | |
8 | g.141168336G>C | CA372344182 | DENND3 | c.2086G>C (p.Glu696Gln) c.1846G>C (p.Glu616Gln) c.1690G>C (p.Glu564Gln) c.1859G>C n.1627G>C c.1885G>C (p.Glu629Gln) c.1729G>C (p.Glu577Gln) c.1852G>C (p.Glu618Gln) c.1342G>C (p.Glu448Gln) c.1519G>C (p.Glu507Gln) c.1513G>C (p.Glu505Gln) c.1054G>C (p.Glu352Gln) c.583G>C (p.Glu195Gln) n.2015G>C n.2182G>C c.1930G>C (p.Glu644Gln) c.622G>C (p.Glu208Gln) n.2232G>C n.2205G>C | |
8 | g.141168336G>T | CA372344183 | DENND3 | c.2086G>T (p.Glu696Ter) c.1846G>T (p.Glu616Ter) c.1690G>T (p.Glu564Ter) c.1859G>T n.1627G>T c.1885G>T (p.Glu629Ter) c.1729G>T (p.Glu577Ter) c.1852G>T (p.Glu618Ter) c.1342G>T (p.Glu448Ter) c.1519G>T (p.Glu507Ter) c.1513G>T (p.Glu505Ter) c.1054G>T (p.Glu352Ter) c.583G>T (p.Glu195Ter) n.2015G>T n.2182G>T c.1930G>T (p.Glu644Ter) c.622G>T (p.Glu208Ter) n.2232G>T n.2205G>T | |
8 | g.141168337A>C | CA372344186 | DENND3 | c.2087A>C (p.Glu696Ala) c.1847A>C (p.Glu616Ala) c.1691A>C (p.Glu564Ala) c.1860A>C n.1628A>C c.1886A>C (p.Glu629Ala) c.1730A>C (p.Glu577Ala) c.1853A>C (p.Glu618Ala) c.1343A>C (p.Glu448Ala) c.1520A>C (p.Glu507Ala) c.1514A>C (p.Glu505Ala) c.1055A>C (p.Glu352Ala) c.584A>C (p.Glu195Ala) n.2016A>C n.2183A>C c.1931A>C (p.Glu644Ala) c.623A>C (p.Glu208Ala) n.2233A>C n.2206A>C | |
8 | g.141168337A>G | CA372344185 | DENND3 | c.2087A>G (p.Glu696Gly) c.1847A>G (p.Glu616Gly) c.1691A>G (p.Glu564Gly) c.1860A>G n.1628A>G c.1886A>G (p.Glu629Gly) c.1730A>G (p.Glu577Gly) c.1853A>G (p.Glu618Gly) c.1343A>G (p.Glu448Gly) c.1520A>G (p.Glu507Gly) c.1514A>G (p.Glu505Gly) c.1055A>G (p.Glu352Gly) c.584A>G (p.Glu195Gly) n.2016A>G n.2183A>G c.1931A>G (p.Glu644Gly) c.623A>G (p.Glu208Gly) n.2233A>G n.2206A>G | |
8 | g.141168337A>T | CA372344184 | DENND3 | c.2087A>T (p.Glu696Val) c.1847A>T (p.Glu616Val) c.1691A>T (p.Glu564Val) c.1860A>T n.1628A>T c.1886A>T (p.Glu629Val) c.1730A>T (p.Glu577Val) c.1853A>T (p.Glu618Val) c.1343A>T (p.Glu448Val) c.1520A>T (p.Glu507Val) c.1514A>T (p.Glu505Val) c.1055A>T (p.Glu352Val) c.584A>T (p.Glu195Val) n.2016A>T n.2183A>T c.1931A>T (p.Glu644Val) c.623A>T (p.Glu208Val) n.2233A>T n.2206A>T | |
8 | g.141168338G>A | CA463496950 | DENND3 | c.2088G>A (p.Glu696=) c.1848G>A (p.Glu616=) c.1692G>A (p.Glu564=) c.1861G>A n.1629G>A c.1887G>A (p.Glu629=) c.1731G>A (p.Glu577=) c.1854G>A (p.Glu618=) c.1344G>A (p.Glu448=) c.1521G>A (p.Glu507=) c.1515G>A (p.Glu505=) c.1056G>A (p.Glu352=) c.585G>A (p.Glu195=) n.2017G>A n.2184G>A c.1932G>A (p.Glu644=) c.624G>A (p.Glu208=) n.2234G>A n.2207G>A | |
8 | g.141168338G>C | CA372344187 | DENND3 | c.2088G>C (p.Glu696Asp) c.1848G>C (p.Glu616Asp) c.1692G>C (p.Glu564Asp) c.1861G>C n.1629G>C c.1887G>C (p.Glu629Asp) c.1731G>C (p.Glu577Asp) c.1854G>C (p.Glu618Asp) c.1344G>C (p.Glu448Asp) c.1521G>C (p.Glu507Asp) c.1515G>C (p.Glu505Asp) c.1056G>C (p.Glu352Asp) c.585G>C (p.Glu195Asp) n.2017G>C n.2184G>C c.1932G>C (p.Glu644Asp) c.624G>C (p.Glu208Asp) n.2234G>C n.2207G>C | |
8 | g.141168338G>T | CA372344188 | DENND3 | c.2088G>T (p.Glu696Asp) c.1848G>T (p.Glu616Asp) c.1692G>T (p.Glu564Asp) c.1861G>T n.1629G>T c.1887G>T (p.Glu629Asp) c.1731G>T (p.Glu577Asp) c.1854G>T (p.Glu618Asp) c.1344G>T (p.Glu448Asp) c.1521G>T (p.Glu507Asp) c.1515G>T (p.Glu505Asp) c.1056G>T (p.Glu352Asp) c.585G>T (p.Glu195Asp) n.2017G>T n.2184G>T c.1932G>T (p.Glu644Asp) c.624G>T (p.Glu208Asp) n.2234G>T n.2207G>T | |
8 | g.141168339C>A | CA372344189 | DENND3 | c.2089C>A (p.Leu697Met) c.1849C>A (p.Leu617Met) c.1693C>A (p.Leu565Met) c.1862C>A n.1630C>A c.1888C>A (p.Leu630Met) c.1732C>A (p.Leu578Met) c.1855C>A (p.Leu619Met) c.1345C>A (p.Leu449Met) c.1522C>A (p.Leu508Met) c.1516C>A (p.Leu506Met) c.1057C>A (p.Leu353Met) c.586C>A (p.Leu196Met) n.2018C>A n.2185C>A c.1933C>A (p.Leu645Met) c.625C>A (p.Leu209Met) n.2235C>A n.2208C>A | |
8 | g.141168339C>G | CA372344190 | DENND3 | c.2089C>G (p.Leu697Val) c.1849C>G (p.Leu617Val) c.1693C>G (p.Leu565Val) c.1862C>G n.1630C>G c.1888C>G (p.Leu630Val) c.1732C>G (p.Leu578Val) c.1855C>G (p.Leu619Val) c.1345C>G (p.Leu449Val) c.1522C>G (p.Leu508Val) c.1516C>G (p.Leu506Val) c.1057C>G (p.Leu353Val) c.586C>G (p.Leu196Val) n.2018C>G n.2185C>G c.1933C>G (p.Leu645Val) c.625C>G (p.Leu209Val) n.2235C>G n.2208C>G | gnomAD v4 |
8 | g.141168339C>T | CA463496951 | DENND3 | c.2089C>T (p.Leu697=) c.1849C>T (p.Leu617=) c.1693C>T (p.Leu565=) c.1862C>T n.1630C>T c.1888C>T (p.Leu630=) c.1732C>T (p.Leu578=) c.1855C>T (p.Leu619=) c.1345C>T (p.Leu449=) c.1522C>T (p.Leu508=) c.1516C>T (p.Leu506=) c.1057C>T (p.Leu353=) c.586C>T (p.Leu196=) n.2018C>T n.2185C>T c.1933C>T (p.Leu645=) c.625C>T (p.Leu209=) n.2235C>T n.2208C>T | |
8 | g.141168340T>A | CA372344191 | DENND3 | c.2090T>A (p.Leu697Gln) c.1850T>A (p.Leu617Gln) c.1694T>A (p.Leu565Gln) c.1863T>A n.1631T>A c.1889T>A (p.Leu630Gln) c.1733T>A (p.Leu578Gln) c.1856T>A (p.Leu619Gln) c.1346T>A (p.Leu449Gln) c.1523T>A (p.Leu508Gln) c.1517T>A (p.Leu506Gln) c.1058T>A (p.Leu353Gln) c.587T>A (p.Leu196Gln) n.2019T>A n.2186T>A c.1934T>A (p.Leu645Gln) c.626T>A (p.Leu209Gln) n.2236T>A n.2209T>A | |
8 | g.141168340T>C | CA372344192 | DENND3 | c.2090T>C (p.Leu697Pro) c.1850T>C (p.Leu617Pro) c.1694T>C (p.Leu565Pro) c.1863T>C n.1631T>C c.1889T>C (p.Leu630Pro) c.1733T>C (p.Leu578Pro) c.1856T>C (p.Leu619Pro) c.1346T>C (p.Leu449Pro) c.1523T>C (p.Leu508Pro) c.1517T>C (p.Leu506Pro) c.1058T>C (p.Leu353Pro) c.587T>C (p.Leu196Pro) n.2019T>C n.2186T>C c.1934T>C (p.Leu645Pro) c.626T>C (p.Leu209Pro) n.2236T>C n.2209T>C | |
8 | g.141168340T>G | CA372344193 | DENND3 | c.2090T>G (p.Leu697Arg) c.1850T>G (p.Leu617Arg) c.1694T>G (p.Leu565Arg) c.1863T>G n.1631T>G c.1889T>G (p.Leu630Arg) c.1733T>G (p.Leu578Arg) c.1856T>G (p.Leu619Arg) c.1346T>G (p.Leu449Arg) c.1523T>G (p.Leu508Arg) c.1517T>G (p.Leu506Arg) c.1058T>G (p.Leu353Arg) c.587T>G (p.Leu196Arg) n.2019T>G n.2186T>G c.1934T>G (p.Leu645Arg) c.626T>G (p.Leu209Arg) n.2236T>G n.2209T>G | |
8 | g.141168341G>A | CA463496952 | DENND3 | c.2091G>A (p.Leu697=) c.1851G>A (p.Leu617=) c.1695G>A (p.Leu565=) c.1864G>A n.1632G>A c.1890G>A (p.Leu630=) c.1734G>A (p.Leu578=) c.1857G>A (p.Leu619=) c.1347G>A (p.Leu449=) c.1524G>A (p.Leu508=) c.1518G>A (p.Leu506=) c.1059G>A (p.Leu353=) c.588G>A (p.Leu196=) n.2020G>A n.2187G>A c.1935G>A (p.Leu645=) c.627G>A (p.Leu209=) n.2237G>A n.2210G>A | |
8 | g.141168341G>C | CA463496953 | DENND3 | c.2091G>C (p.Leu697=) c.1851G>C (p.Leu617=) c.1695G>C (p.Leu565=) c.1864G>C n.1632G>C c.1890G>C (p.Leu630=) c.1734G>C (p.Leu578=) c.1857G>C (p.Leu619=) c.1347G>C (p.Leu449=) c.1524G>C (p.Leu508=) c.1518G>C (p.Leu506=) c.1059G>C (p.Leu353=) c.588G>C (p.Leu196=) n.2020G>C n.2187G>C c.1935G>C (p.Leu645=) c.627G>C (p.Leu209=) n.2237G>C n.2210G>C | |
8 | g.141168341G>T | CA463496954 | DENND3 | c.2091G>T (p.Leu697=) c.1851G>T (p.Leu617=) c.1695G>T (p.Leu565=) c.1864G>T n.1632G>T c.1890G>T (p.Leu630=) c.1734G>T (p.Leu578=) c.1857G>T (p.Leu619=) c.1347G>T (p.Leu449=) c.1524G>T (p.Leu508=) c.1518G>T (p.Leu506=) c.1059G>T (p.Leu353=) c.588G>T (p.Leu196=) n.2020G>T n.2187G>T c.1935G>T (p.Leu645=) c.627G>T (p.Leu209=) n.2237G>T n.2210G>T | |
8 | g.141168342A>C | CA372344194 | DENND3 | c.2092A>C (p.Met698Leu) c.1852A>C (p.Met618Leu) c.1696A>C (p.Met566Leu) c.1865A>C n.1633A>C c.1891A>C (p.Met631Leu) c.1735A>C (p.Met579Leu) c.1858A>C (p.Met620Leu) c.1348A>C (p.Met450Leu) c.1525A>C (p.Met509Leu) c.1519A>C (p.Met507Leu) c.1060A>C (p.Met354Leu) c.589A>C (p.Met197Leu) n.2021A>C n.2188A>C c.1936A>C (p.Met646Leu) c.628A>C (p.Met210Leu) n.2238A>C n.2211A>C | |
8 | g.141168342A>G | CA372344195 | DENND3 | c.2092A>G (p.Met698Val) c.1852A>G (p.Met618Val) c.1696A>G (p.Met566Val) c.1865A>G n.1633A>G c.1891A>G (p.Met631Val) c.1735A>G (p.Met579Val) c.1858A>G (p.Met620Val) c.1348A>G (p.Met450Val) c.1525A>G (p.Met509Val) c.1519A>G (p.Met507Val) c.1060A>G (p.Met354Val) c.589A>G (p.Met197Val) n.2021A>G n.2188A>G c.1936A>G (p.Met646Val) c.628A>G (p.Met210Val) n.2238A>G n.2211A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168342A>T | CA372344196 | DENND3 | c.2092A>T (p.Met698Leu) c.1852A>T (p.Met618Leu) c.1696A>T (p.Met566Leu) c.1865A>T n.1633A>T c.1891A>T (p.Met631Leu) c.1735A>T (p.Met579Leu) c.1858A>T (p.Met620Leu) c.1348A>T (p.Met450Leu) c.1525A>T (p.Met509Leu) c.1519A>T (p.Met507Leu) c.1060A>T (p.Met354Leu) c.589A>T (p.Met197Leu) n.2021A>T n.2188A>T c.1936A>T (p.Met646Leu) c.628A>T (p.Met210Leu) n.2238A>T n.2211A>T | |
8 | g.141168343T>A | CA372344197 | DENND3 | c.2093T>A (p.Met698Lys) c.1853T>A (p.Met618Lys) c.1697T>A (p.Met566Lys) c.1866T>A n.1634T>A c.1892T>A (p.Met631Lys) c.1736T>A (p.Met579Lys) c.1859T>A (p.Met620Lys) c.1349T>A (p.Met450Lys) c.1526T>A (p.Met509Lys) c.1520T>A (p.Met507Lys) c.1061T>A (p.Met354Lys) c.590T>A (p.Met197Lys) n.2022T>A n.2189T>A c.1937T>A (p.Met646Lys) c.629T>A (p.Met210Lys) n.2239T>A n.2212T>A | |
8 | g.141168343T>C | CA372344198 | DENND3 | c.2093T>C (p.Met698Thr) c.1853T>C (p.Met618Thr) c.1697T>C (p.Met566Thr) c.1866T>C n.1634T>C c.1892T>C (p.Met631Thr) c.1736T>C (p.Met579Thr) c.1859T>C (p.Met620Thr) c.1349T>C (p.Met450Thr) c.1526T>C (p.Met509Thr) c.1520T>C (p.Met507Thr) c.1061T>C (p.Met354Thr) c.590T>C (p.Met197Thr) n.2022T>C n.2189T>C c.1937T>C (p.Met646Thr) c.629T>C (p.Met210Thr) n.2239T>C n.2212T>C | |
8 | g.141168343T>G | CA372344199 | DENND3 | c.2093T>G (p.Met698Arg) c.1853T>G (p.Met618Arg) c.1697T>G (p.Met566Arg) c.1866T>G n.1634T>G c.1892T>G (p.Met631Arg) c.1736T>G (p.Met579Arg) c.1859T>G (p.Met620Arg) c.1349T>G (p.Met450Arg) c.1526T>G (p.Met509Arg) c.1520T>G (p.Met507Arg) c.1061T>G (p.Met354Arg) c.590T>G (p.Met197Arg) n.2022T>G n.2189T>G c.1937T>G (p.Met646Arg) c.629T>G (p.Met210Arg) n.2239T>G n.2212T>G | |
8 | g.141168344G>A | CA372344201 | DENND3 | c.2094G>A (p.Met698Ile) c.1854G>A (p.Met618Ile) c.1698G>A (p.Met566Ile) c.1867G>A n.1635G>A c.1893G>A (p.Met631Ile) c.1737G>A (p.Met579Ile) c.1860G>A (p.Met620Ile) c.1350G>A (p.Met450Ile) c.1527G>A (p.Met509Ile) c.1521G>A (p.Met507Ile) c.1062G>A (p.Met354Ile) c.591G>A (p.Met197Ile) n.2023G>A n.2190G>A c.1938G>A (p.Met646Ile) c.630G>A (p.Met210Ile) n.2240G>A n.2213G>A | gnomAD v4 |
8 | g.141168344G>C | CA372344202 | DENND3 | c.2094G>C (p.Met698Ile) c.1854G>C (p.Met618Ile) c.1698G>C (p.Met566Ile) c.1867G>C n.1635G>C c.1893G>C (p.Met631Ile) c.1737G>C (p.Met579Ile) c.1860G>C (p.Met620Ile) c.1350G>C (p.Met450Ile) c.1527G>C (p.Met509Ile) c.1521G>C (p.Met507Ile) c.1062G>C (p.Met354Ile) c.591G>C (p.Met197Ile) n.2023G>C n.2190G>C c.1938G>C (p.Met646Ile) c.630G>C (p.Met210Ile) n.2240G>C n.2213G>C | |
8 | g.141168344G>T | CA372344200 | DENND3 | c.2094G>T (p.Met698Ile) c.1854G>T (p.Met618Ile) c.1698G>T (p.Met566Ile) c.1867G>T n.1635G>T c.1893G>T (p.Met631Ile) c.1737G>T (p.Met579Ile) c.1860G>T (p.Met620Ile) c.1350G>T (p.Met450Ile) c.1527G>T (p.Met509Ile) c.1521G>T (p.Met507Ile) c.1062G>T (p.Met354Ile) c.591G>T (p.Met197Ile) n.2023G>T n.2190G>T c.1938G>T (p.Met646Ile) c.630G>T (p.Met210Ile) n.2240G>T n.2213G>T | |
8 | g.141168347_141168359del | CA2782479400 | DENND3 | c.2097_2109del (p.Leu700SerfsTer15) c.1857_1869del (p.Leu620SerfsTer15) c.1701_1713del (p.Leu568SerfsTer15) c.1870_1882del n.1638_1650del c.1896_1908del (p.Leu633SerfsTer15) c.1740_1752del (p.Leu581SerfsTer15) c.1863_1875del (p.Leu622SerfsTer15) c.1353_1365del (p.Leu452SerfsTer15) c.1530_1542del (p.Leu511SerfsTer15) c.1524_1536del (p.Leu509SerfsTer15) c.1065_1077del (p.Leu356SerfsTer15) c.594_606del (p.Leu199SerfsTer15) n.2026_2038del n.2193_2205del c.1941_1953del (p.Leu648SerfsTer15) c.633_645del (p.Leu212SerfsTer15) n.2243_2255del n.2216_2228del | |
8 | g.141168345A>C | CA463496955 | DENND3 | c.2095A>C (p.Arg699=) c.1855A>C (p.Arg619=) c.1699A>C (p.Arg567=) c.1868A>C n.1636A>C c.1894A>C (p.Arg632=) c.1738A>C (p.Arg580=) c.1861A>C (p.Arg621=) c.1351A>C (p.Arg451=) c.1528A>C (p.Arg510=) c.1522A>C (p.Arg508=) c.1063A>C (p.Arg355=) c.592A>C (p.Arg198=) n.2024A>C n.2191A>C c.1939A>C (p.Arg647=) c.631A>C (p.Arg211=) n.2241A>C n.2214A>C | |
8 | g.141168345A>G | CA372344203 | DENND3 | c.2095A>G (p.Arg699Gly) c.1855A>G (p.Arg619Gly) c.1699A>G (p.Arg567Gly) c.1868A>G n.1636A>G c.1894A>G (p.Arg632Gly) c.1738A>G (p.Arg580Gly) c.1861A>G (p.Arg621Gly) c.1351A>G (p.Arg451Gly) c.1528A>G (p.Arg510Gly) c.1522A>G (p.Arg508Gly) c.1063A>G (p.Arg355Gly) c.592A>G (p.Arg198Gly) n.2024A>G n.2191A>G c.1939A>G (p.Arg647Gly) c.631A>G (p.Arg211Gly) n.2241A>G n.2214A>G | |
8 | g.141168345A>T | CA372344204 | DENND3 | c.2095A>T (p.Arg699Trp) c.1855A>T (p.Arg619Trp) c.1699A>T (p.Arg567Trp) c.1868A>T n.1636A>T c.1894A>T (p.Arg632Trp) c.1738A>T (p.Arg580Trp) c.1861A>T (p.Arg621Trp) c.1351A>T (p.Arg451Trp) c.1528A>T (p.Arg510Trp) c.1522A>T (p.Arg508Trp) c.1063A>T (p.Arg355Trp) c.592A>T (p.Arg198Trp) n.2024A>T n.2191A>T c.1939A>T (p.Arg647Trp) c.631A>T (p.Arg211Trp) n.2241A>T n.2214A>T | |
8 | g.141168346G>A | CA4896804 | DENND3 | c.2096G>A (p.Arg699Lys) c.1856G>A (p.Arg619Lys) c.1700G>A (p.Arg567Lys) c.1869G>A n.1637G>A c.1895G>A (p.Arg632Lys) c.1739G>A (p.Arg580Lys) c.1862G>A (p.Arg621Lys) c.1352G>A (p.Arg451Lys) c.1529G>A (p.Arg510Lys) c.1523G>A (p.Arg508Lys) c.1064G>A (p.Arg355Lys) c.593G>A (p.Arg198Lys) n.2025G>A n.2192G>A c.1940G>A (p.Arg647Lys) c.632G>A (p.Arg211Lys) n.2242G>A n.2215G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168346G>C | CA372344205 | DENND3 | c.2096G>C (p.Arg699Thr) c.1856G>C (p.Arg619Thr) c.1700G>C (p.Arg567Thr) c.1869G>C n.1637G>C c.1895G>C (p.Arg632Thr) c.1739G>C (p.Arg580Thr) c.1862G>C (p.Arg621Thr) c.1352G>C (p.Arg451Thr) c.1529G>C (p.Arg510Thr) c.1523G>C (p.Arg508Thr) c.1064G>C (p.Arg355Thr) c.593G>C (p.Arg198Thr) n.2025G>C n.2192G>C c.1940G>C (p.Arg647Thr) c.632G>C (p.Arg211Thr) n.2242G>C n.2215G>C | |
8 | g.141168346G>T | CA372344206 | DENND3 | c.2096G>T (p.Arg699Met) c.1856G>T (p.Arg619Met) c.1700G>T (p.Arg567Met) c.1869G>T n.1637G>T c.1895G>T (p.Arg632Met) c.1739G>T (p.Arg580Met) c.1862G>T (p.Arg621Met) c.1352G>T (p.Arg451Met) c.1529G>T (p.Arg510Met) c.1523G>T (p.Arg508Met) c.1064G>T (p.Arg355Met) c.593G>T (p.Arg198Met) n.2025G>T n.2192G>T c.1940G>T (p.Arg647Met) c.632G>T (p.Arg211Met) n.2242G>T n.2215G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168347G>A | CA463496956 | DENND3 | c.2097G>A (p.Arg699=) c.1857G>A (p.Arg619=) c.1701G>A (p.Arg567=) c.1870G>A n.1638G>A c.1896G>A (p.Arg632=) c.1740G>A (p.Arg580=) c.1863G>A (p.Arg621=) c.1353G>A (p.Arg451=) c.1530G>A (p.Arg510=) c.1524G>A (p.Arg508=) c.1065G>A (p.Arg355=) c.594G>A (p.Arg198=) n.2026G>A n.2193G>A c.1941G>A (p.Arg647=) c.633G>A (p.Arg211=) n.2243G>A n.2216G>A | |
8 | g.141168347G>C | CA372344207 | DENND3 | c.2097G>C (p.Arg699Ser) c.1857G>C (p.Arg619Ser) c.1701G>C (p.Arg567Ser) c.1870G>C n.1638G>C c.1896G>C (p.Arg632Ser) c.1740G>C (p.Arg580Ser) c.1863G>C (p.Arg621Ser) c.1353G>C (p.Arg451Ser) c.1530G>C (p.Arg510Ser) c.1524G>C (p.Arg508Ser) c.1065G>C (p.Arg355Ser) c.594G>C (p.Arg198Ser) n.2026G>C n.2193G>C c.1941G>C (p.Arg647Ser) c.633G>C (p.Arg211Ser) n.2243G>C n.2216G>C | gnomAD v4 |
8 | g.141168347G>T | CA372344208 | DENND3 | c.2097G>T (p.Arg699Ser) c.1857G>T (p.Arg619Ser) c.1701G>T (p.Arg567Ser) c.1870G>T n.1638G>T c.1896G>T (p.Arg632Ser) c.1740G>T (p.Arg580Ser) c.1863G>T (p.Arg621Ser) c.1353G>T (p.Arg451Ser) c.1530G>T (p.Arg510Ser) c.1524G>T (p.Arg508Ser) c.1065G>T (p.Arg355Ser) c.594G>T (p.Arg198Ser) n.2026G>T n.2193G>T c.1941G>T (p.Arg647Ser) c.633G>T (p.Arg211Ser) n.2243G>T n.2216G>T | |
8 | g.141168348C>A | CA4896805 | DENND3 | c.2098C>A (p.Leu700Ile) c.1858C>A (p.Leu620Ile) c.1702C>A (p.Leu568Ile) c.1871C>A n.1639C>A c.1897C>A (p.Leu633Ile) c.1741C>A (p.Leu581Ile) c.1864C>A (p.Leu622Ile) c.1354C>A (p.Leu452Ile) c.1531C>A (p.Leu511Ile) c.1525C>A (p.Leu509Ile) c.1066C>A (p.Leu356Ile) c.595C>A (p.Leu199Ile) n.2027C>A n.2194C>A c.1942C>A (p.Leu648Ile) c.634C>A (p.Leu212Ile) n.2244C>A n.2217C>A | dbSNP ExAC gnomAD v2 |
8 | g.141168348C>G | CA372344209 | DENND3 | c.2098C>G (p.Leu700Val) c.1858C>G (p.Leu620Val) c.1702C>G (p.Leu568Val) c.1871C>G n.1639C>G c.1897C>G (p.Leu633Val) c.1741C>G (p.Leu581Val) c.1864C>G (p.Leu622Val) c.1354C>G (p.Leu452Val) c.1531C>G (p.Leu511Val) c.1525C>G (p.Leu509Val) c.1066C>G (p.Leu356Val) c.595C>G (p.Leu199Val) n.2027C>G n.2194C>G c.1942C>G (p.Leu648Val) c.634C>G (p.Leu212Val) n.2244C>G n.2217C>G | dbSNP |
8 | g.141168348C>T | CA187325774 | DENND3 | c.2098C>T (p.Leu700Phe) c.1858C>T (p.Leu620Phe) c.1702C>T (p.Leu568Phe) c.1871C>T n.1639C>T c.1897C>T (p.Leu633Phe) c.1741C>T (p.Leu581Phe) c.1864C>T (p.Leu622Phe) c.1354C>T (p.Leu452Phe) c.1531C>T (p.Leu511Phe) c.1525C>T (p.Leu509Phe) c.1066C>T (p.Leu356Phe) c.595C>T (p.Leu199Phe) n.2027C>T n.2194C>T c.1942C>T (p.Leu648Phe) c.634C>T (p.Leu212Phe) n.2244C>T n.2217C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168349T>A | CA372344210 | DENND3 | c.2099T>A (p.Leu700His) c.1859T>A (p.Leu620His) c.1703T>A (p.Leu568His) c.1872T>A n.1640T>A c.1898T>A (p.Leu633His) c.1742T>A (p.Leu581His) c.1865T>A (p.Leu622His) c.1355T>A (p.Leu452His) c.1532T>A (p.Leu511His) c.1526T>A (p.Leu509His) c.1067T>A (p.Leu356His) c.596T>A (p.Leu199His) n.2028T>A n.2195T>A c.1943T>A (p.Leu648His) c.635T>A (p.Leu212His) n.2245T>A n.2218T>A | |
8 | g.141168349T>C | CA372344211 | DENND3 | c.2099T>C (p.Leu700Pro) c.1859T>C (p.Leu620Pro) c.1703T>C (p.Leu568Pro) c.1872T>C n.1640T>C c.1898T>C (p.Leu633Pro) c.1742T>C (p.Leu581Pro) c.1865T>C (p.Leu622Pro) c.1355T>C (p.Leu452Pro) c.1532T>C (p.Leu511Pro) c.1526T>C (p.Leu509Pro) c.1067T>C (p.Leu356Pro) c.596T>C (p.Leu199Pro) n.2028T>C n.2195T>C c.1943T>C (p.Leu648Pro) c.635T>C (p.Leu212Pro) n.2245T>C n.2218T>C | |
8 | g.141168349T>G | CA372344212 | DENND3 | c.2099T>G (p.Leu700Arg) c.1859T>G (p.Leu620Arg) c.1703T>G (p.Leu568Arg) c.1872T>G n.1640T>G c.1898T>G (p.Leu633Arg) c.1742T>G (p.Leu581Arg) c.1865T>G (p.Leu622Arg) c.1355T>G (p.Leu452Arg) c.1532T>G (p.Leu511Arg) c.1526T>G (p.Leu509Arg) c.1067T>G (p.Leu356Arg) c.596T>G (p.Leu199Arg) n.2028T>G n.2195T>G c.1943T>G (p.Leu648Arg) c.635T>G (p.Leu212Arg) n.2245T>G n.2218T>G | |
8 | g.141168350C>A | CA463496957 | DENND3 | c.2100C>A (p.Leu700=) c.1860C>A (p.Leu620=) c.1704C>A (p.Leu568=) c.1873C>A n.1641C>A c.1899C>A (p.Leu633=) c.1743C>A (p.Leu581=) c.1866C>A (p.Leu622=) c.1356C>A (p.Leu452=) c.1533C>A (p.Leu511=) c.1527C>A (p.Leu509=) c.1068C>A (p.Leu356=) c.597C>A (p.Leu199=) n.2029C>A n.2196C>A c.1944C>A (p.Leu648=) c.636C>A (p.Leu212=) n.2246C>A n.2219C>A | |
8 | g.141168350C>G | CA463496958 | DENND3 | c.2100C>G (p.Leu700=) c.1860C>G (p.Leu620=) c.1704C>G (p.Leu568=) c.1873C>G n.1641C>G c.1899C>G (p.Leu633=) c.1743C>G (p.Leu581=) c.1866C>G (p.Leu622=) c.1356C>G (p.Leu452=) c.1533C>G (p.Leu511=) c.1527C>G (p.Leu509=) c.1068C>G (p.Leu356=) c.597C>G (p.Leu199=) n.2029C>G n.2196C>G c.1944C>G (p.Leu648=) c.636C>G (p.Leu212=) n.2246C>G n.2219C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168350C>T | CA463496959 | DENND3 | c.2100C>T (p.Leu700=) c.1860C>T (p.Leu620=) c.1704C>T (p.Leu568=) c.1873C>T n.1641C>T c.1899C>T (p.Leu633=) c.1743C>T (p.Leu581=) c.1866C>T (p.Leu622=) c.1356C>T (p.Leu452=) c.1533C>T (p.Leu511=) c.1527C>T (p.Leu509=) c.1068C>T (p.Leu356=) c.597C>T (p.Leu199=) n.2029C>T n.2196C>T c.1944C>T (p.Leu648=) c.636C>T (p.Leu212=) n.2246C>T n.2219C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168351A>C | CA372344215 | DENND3 | c.2101A>C (p.Ile701Leu) c.1861A>C (p.Ile621Leu) c.1705A>C (p.Ile569Leu) c.1874A>C n.1642A>C c.1900A>C (p.Ile634Leu) c.1744A>C (p.Ile582Leu) c.1867A>C (p.Ile623Leu) c.1357A>C (p.Ile453Leu) c.1534A>C (p.Ile512Leu) c.1528A>C (p.Ile510Leu) c.1069A>C (p.Ile357Leu) c.598A>C (p.Ile200Leu) n.2030A>C n.2197A>C c.1945A>C (p.Ile649Leu) c.637A>C (p.Ile213Leu) n.2247A>C n.2220A>C | |
8 | g.141168351A>G | CA372344214 | DENND3 | c.2101A>G (p.Ile701Val) c.1861A>G (p.Ile621Val) c.1705A>G (p.Ile569Val) c.1874A>G n.1642A>G c.1900A>G (p.Ile634Val) c.1744A>G (p.Ile582Val) c.1867A>G (p.Ile623Val) c.1357A>G (p.Ile453Val) c.1534A>G (p.Ile512Val) c.1528A>G (p.Ile510Val) c.1069A>G (p.Ile357Val) c.598A>G (p.Ile200Val) n.2030A>G n.2197A>G c.1945A>G (p.Ile649Val) c.637A>G (p.Ile213Val) n.2247A>G n.2220A>G | |
8 | g.141168351A>T | CA372344213 | DENND3 | c.2101A>T (p.Ile701Phe) c.1861A>T (p.Ile621Phe) c.1705A>T (p.Ile569Phe) c.1874A>T n.1642A>T c.1900A>T (p.Ile634Phe) c.1744A>T (p.Ile582Phe) c.1867A>T (p.Ile623Phe) c.1357A>T (p.Ile453Phe) c.1534A>T (p.Ile512Phe) c.1528A>T (p.Ile510Phe) c.1069A>T (p.Ile357Phe) c.598A>T (p.Ile200Phe) n.2030A>T n.2197A>T c.1945A>T (p.Ile649Phe) c.637A>T (p.Ile213Phe) n.2247A>T n.2220A>T | gnomAD v4 |
8 | g.141168352T>A | CA372344216 | DENND3 | c.2102T>A (p.Ile701Asn) c.1862T>A (p.Ile621Asn) c.1706T>A (p.Ile569Asn) c.1875T>A n.1643T>A c.1901T>A (p.Ile634Asn) c.1745T>A (p.Ile582Asn) c.1868T>A (p.Ile623Asn) c.1358T>A (p.Ile453Asn) c.1535T>A (p.Ile512Asn) c.1529T>A (p.Ile510Asn) c.1070T>A (p.Ile357Asn) c.599T>A (p.Ile200Asn) n.2031T>A n.2198T>A c.1946T>A (p.Ile649Asn) c.638T>A (p.Ile213Asn) n.2248T>A n.2221T>A | |
8 | g.141168352T>C | CA372344217 | DENND3 | c.2102T>C (p.Ile701Thr) c.1862T>C (p.Ile621Thr) c.1706T>C (p.Ile569Thr) c.1875T>C n.1643T>C c.1901T>C (p.Ile634Thr) c.1745T>C (p.Ile582Thr) c.1868T>C (p.Ile623Thr) c.1358T>C (p.Ile453Thr) c.1535T>C (p.Ile512Thr) c.1529T>C (p.Ile510Thr) c.1070T>C (p.Ile357Thr) c.599T>C (p.Ile200Thr) n.2031T>C n.2198T>C c.1946T>C (p.Ile649Thr) c.638T>C (p.Ile213Thr) n.2248T>C n.2221T>C | |
8 | g.141168352T>G | CA372344218 | DENND3 | c.2102T>G (p.Ile701Ser) c.1862T>G (p.Ile621Ser) c.1706T>G (p.Ile569Ser) c.1875T>G n.1643T>G c.1901T>G (p.Ile634Ser) c.1745T>G (p.Ile582Ser) c.1868T>G (p.Ile623Ser) c.1358T>G (p.Ile453Ser) c.1535T>G (p.Ile512Ser) c.1529T>G (p.Ile510Ser) c.1070T>G (p.Ile357Ser) c.599T>G (p.Ile200Ser) n.2031T>G n.2198T>G c.1946T>G (p.Ile649Ser) c.638T>G (p.Ile213Ser) n.2248T>G n.2221T>G | |
8 | g.141168353C>A | CA463496960 | DENND3 | c.2103C>A (p.Ile701=) c.1863C>A (p.Ile621=) c.1707C>A (p.Ile569=) c.1876C>A n.1644C>A c.1902C>A (p.Ile634=) c.1746C>A (p.Ile582=) c.1869C>A (p.Ile623=) c.1359C>A (p.Ile453=) c.1536C>A (p.Ile512=) c.1530C>A (p.Ile510=) c.1071C>A (p.Ile357=) c.600C>A (p.Ile200=) n.2032C>A n.2199C>A c.1947C>A (p.Ile649=) c.639C>A (p.Ile213=) n.2249C>A n.2222C>A | |
8 | g.141168353C>G | CA372344219 | DENND3 | c.2103C>G (p.Ile701Met) c.1863C>G (p.Ile621Met) c.1707C>G (p.Ile569Met) c.1876C>G n.1644C>G c.1902C>G (p.Ile634Met) c.1746C>G (p.Ile582Met) c.1869C>G (p.Ile623Met) c.1359C>G (p.Ile453Met) c.1536C>G (p.Ile512Met) c.1530C>G (p.Ile510Met) c.1071C>G (p.Ile357Met) c.600C>G (p.Ile200Met) n.2032C>G n.2199C>G c.1947C>G (p.Ile649Met) c.639C>G (p.Ile213Met) n.2249C>G n.2222C>G | |
8 | g.141168353C>T | CA463496961 | DENND3 | c.2103C>T (p.Ile701=) c.1863C>T (p.Ile621=) c.1707C>T (p.Ile569=) c.1876C>T n.1644C>T c.1902C>T (p.Ile634=) c.1746C>T (p.Ile582=) c.1869C>T (p.Ile623=) c.1359C>T (p.Ile453=) c.1536C>T (p.Ile512=) c.1530C>T (p.Ile510=) c.1071C>T (p.Ile357=) c.600C>T (p.Ile200=) n.2032C>T n.2199C>T c.1947C>T (p.Ile649=) c.639C>T (p.Ile213=) n.2249C>T n.2222C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168354A>C | CA372344220 | DENND3 | c.2104A>C (p.Ser702Arg) c.1864A>C (p.Ser622Arg) c.1708A>C (p.Ser570Arg) c.1877A>C n.1645A>C c.1903A>C (p.Ser635Arg) c.1747A>C (p.Ser583Arg) c.1870A>C (p.Ser624Arg) c.1360A>C (p.Ser454Arg) c.1537A>C (p.Ser513Arg) c.1531A>C (p.Ser511Arg) c.1072A>C (p.Ser358Arg) c.601A>C (p.Ser201Arg) n.2033A>C n.2200A>C c.1948A>C (p.Ser650Arg) c.640A>C (p.Ser214Arg) n.2250A>C n.2223A>C | |
8 | g.141168354A>G | CA372344221 | DENND3 | c.2104A>G (p.Ser702Gly) c.1864A>G (p.Ser622Gly) c.1708A>G (p.Ser570Gly) c.1877A>G n.1645A>G c.1903A>G (p.Ser635Gly) c.1747A>G (p.Ser583Gly) c.1870A>G (p.Ser624Gly) c.1360A>G (p.Ser454Gly) c.1537A>G (p.Ser513Gly) c.1531A>G (p.Ser511Gly) c.1072A>G (p.Ser358Gly) c.601A>G (p.Ser201Gly) n.2033A>G n.2200A>G c.1948A>G (p.Ser650Gly) c.640A>G (p.Ser214Gly) n.2250A>G n.2223A>G | |
8 | g.141168354A>T | CA372344222 | DENND3 | c.2104A>T (p.Ser702Cys) c.1864A>T (p.Ser622Cys) c.1708A>T (p.Ser570Cys) c.1877A>T n.1645A>T c.1903A>T (p.Ser635Cys) c.1747A>T (p.Ser583Cys) c.1870A>T (p.Ser624Cys) c.1360A>T (p.Ser454Cys) c.1537A>T (p.Ser513Cys) c.1531A>T (p.Ser511Cys) c.1072A>T (p.Ser358Cys) c.601A>T (p.Ser201Cys) n.2033A>T n.2200A>T c.1948A>T (p.Ser650Cys) c.640A>T (p.Ser214Cys) n.2250A>T n.2223A>T | |
8 | g.141168355G>A | CA372344223 | DENND3 | c.2105G>A (p.Ser702Asn) c.1865G>A (p.Ser622Asn) c.1709G>A (p.Ser570Asn) c.1878G>A n.1646G>A c.1904G>A (p.Ser635Asn) c.1748G>A (p.Ser583Asn) c.1871G>A (p.Ser624Asn) c.1361G>A (p.Ser454Asn) c.1538G>A (p.Ser513Asn) c.1532G>A (p.Ser511Asn) c.1073G>A (p.Ser358Asn) c.602G>A (p.Ser201Asn) n.2034G>A n.2201G>A c.1949G>A (p.Ser650Asn) c.641G>A (p.Ser214Asn) n.2251G>A n.2224G>A | |
8 | g.141168355G>C | CA372344224 | DENND3 | c.2105G>C (p.Ser702Thr) c.1865G>C (p.Ser622Thr) c.1709G>C (p.Ser570Thr) c.1878G>C n.1646G>C c.1904G>C (p.Ser635Thr) c.1748G>C (p.Ser583Thr) c.1871G>C (p.Ser624Thr) c.1361G>C (p.Ser454Thr) c.1538G>C (p.Ser513Thr) c.1532G>C (p.Ser511Thr) c.1073G>C (p.Ser358Thr) c.602G>C (p.Ser201Thr) n.2034G>C n.2201G>C c.1949G>C (p.Ser650Thr) c.641G>C (p.Ser214Thr) n.2251G>C n.2224G>C | |
8 | g.141168355G>T | CA372344225 | DENND3 | c.2105G>T (p.Ser702Ile) c.1865G>T (p.Ser622Ile) c.1709G>T (p.Ser570Ile) c.1878G>T n.1646G>T c.1904G>T (p.Ser635Ile) c.1748G>T (p.Ser583Ile) c.1871G>T (p.Ser624Ile) c.1361G>T (p.Ser454Ile) c.1538G>T (p.Ser513Ile) c.1532G>T (p.Ser511Ile) c.1073G>T (p.Ser358Ile) c.602G>T (p.Ser201Ile) n.2034G>T n.2201G>T c.1949G>T (p.Ser650Ile) c.641G>T (p.Ser214Ile) n.2251G>T n.2224G>T | |
8 | g.141168356C>A | CA372344226 | DENND3 | c.2106C>A (p.Ser702Arg) c.1866C>A (p.Ser622Arg) c.1710C>A (p.Ser570Arg) c.1879C>A n.1647C>A c.1905C>A (p.Ser635Arg) c.1749C>A (p.Ser583Arg) c.1872C>A (p.Ser624Arg) c.1362C>A (p.Ser454Arg) c.1539C>A (p.Ser513Arg) c.1533C>A (p.Ser511Arg) c.1074C>A (p.Ser358Arg) c.603C>A (p.Ser201Arg) n.2035C>A n.2202C>A c.1950C>A (p.Ser650Arg) c.642C>A (p.Ser214Arg) n.2252C>A n.2225C>A | |
8 | g.141168356C>G | CA372344227 | DENND3 | c.2106C>G (p.Ser702Arg) c.1866C>G (p.Ser622Arg) c.1710C>G (p.Ser570Arg) c.1879C>G n.1647C>G c.1905C>G (p.Ser635Arg) c.1749C>G (p.Ser583Arg) c.1872C>G (p.Ser624Arg) c.1362C>G (p.Ser454Arg) c.1539C>G (p.Ser513Arg) c.1533C>G (p.Ser511Arg) c.1074C>G (p.Ser358Arg) c.603C>G (p.Ser201Arg) n.2035C>G n.2202C>G c.1950C>G (p.Ser650Arg) c.642C>G (p.Ser214Arg) n.2252C>G n.2225C>G | |
8 | g.141168356C>T | CA4896806 | DENND3 | c.2106C>T (p.Ser702=) c.1866C>T (p.Ser622=) c.1710C>T (p.Ser570=) c.1879C>T n.1647C>T c.1905C>T (p.Ser635=) c.1749C>T (p.Ser583=) c.1872C>T (p.Ser624=) c.1362C>T (p.Ser454=) c.1539C>T (p.Ser513=) c.1533C>T (p.Ser511=) c.1074C>T (p.Ser358=) c.603C>T (p.Ser201=) n.2035C>T n.2202C>T c.1950C>T (p.Ser650=) c.642C>T (p.Ser214=) n.2252C>T n.2225C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168357G>A | CA372344229 | DENND3 | c.2107G>A (p.Glu703Lys) c.1867G>A (p.Glu623Lys) c.1711G>A (p.Glu571Lys) c.1880G>A n.1648G>A c.1906G>A (p.Glu636Lys) c.1750G>A (p.Glu584Lys) c.1873G>A (p.Glu625Lys) c.1363G>A (p.Glu455Lys) c.1540G>A (p.Glu514Lys) c.1534G>A (p.Glu512Lys) c.1075G>A (p.Glu359Lys) c.604G>A (p.Glu202Lys) n.2036G>A n.2203G>A c.1951G>A (p.Glu651Lys) c.643G>A (p.Glu215Lys) n.2253G>A n.2226G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168357G>C | CA372344230 | DENND3 | c.2107G>C (p.Glu703Gln) c.1867G>C (p.Glu623Gln) c.1711G>C (p.Glu571Gln) c.1880G>C n.1648G>C c.1906G>C (p.Glu636Gln) c.1750G>C (p.Glu584Gln) c.1873G>C (p.Glu625Gln) c.1363G>C (p.Glu455Gln) c.1540G>C (p.Glu514Gln) c.1534G>C (p.Glu512Gln) c.1075G>C (p.Glu359Gln) c.604G>C (p.Glu202Gln) n.2036G>C n.2203G>C c.1951G>C (p.Glu651Gln) c.643G>C (p.Glu215Gln) n.2253G>C n.2226G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168357G>T | CA372344228 | DENND3 | c.2107G>T (p.Glu703Ter) c.1867G>T (p.Glu623Ter) c.1711G>T (p.Glu571Ter) c.1880G>T n.1648G>T c.1906G>T (p.Glu636Ter) c.1750G>T (p.Glu584Ter) c.1873G>T (p.Glu625Ter) c.1363G>T (p.Glu455Ter) c.1540G>T (p.Glu514Ter) c.1534G>T (p.Glu512Ter) c.1075G>T (p.Glu359Ter) c.604G>T (p.Glu202Ter) n.2036G>T n.2203G>T c.1951G>T (p.Glu651Ter) c.643G>T (p.Glu215Ter) n.2253G>T n.2226G>T | |
8 | g.141168358A>C | CA372344231 | DENND3 | c.2108A>C (p.Glu703Ala) c.1868A>C (p.Glu623Ala) c.1712A>C (p.Glu571Ala) c.1881A>C n.1649A>C c.1907A>C (p.Glu636Ala) c.1751A>C (p.Glu584Ala) c.1874A>C (p.Glu625Ala) c.1364A>C (p.Glu455Ala) c.1541A>C (p.Glu514Ala) c.1535A>C (p.Glu512Ala) c.1076A>C (p.Glu359Ala) c.605A>C (p.Glu202Ala) n.2037A>C n.2204A>C c.1952A>C (p.Glu651Ala) c.644A>C (p.Glu215Ala) n.2254A>C n.2227A>C | |
8 | g.141168358A>G | CA372344232 | DENND3 | c.2108A>G (p.Glu703Gly) c.1868A>G (p.Glu623Gly) c.1712A>G (p.Glu571Gly) c.1881A>G n.1649A>G c.1907A>G (p.Glu636Gly) c.1751A>G (p.Glu584Gly) c.1874A>G (p.Glu625Gly) c.1364A>G (p.Glu455Gly) c.1541A>G (p.Glu514Gly) c.1535A>G (p.Glu512Gly) c.1076A>G (p.Glu359Gly) c.605A>G (p.Glu202Gly) n.2037A>G n.2204A>G c.1952A>G (p.Glu651Gly) c.644A>G (p.Glu215Gly) n.2254A>G n.2227A>G | |
8 | g.141168358A>T | CA372344233 | DENND3 | c.2108A>T (p.Glu703Val) c.1868A>T (p.Glu623Val) c.1712A>T (p.Glu571Val) c.1881A>T n.1649A>T c.1907A>T (p.Glu636Val) c.1751A>T (p.Glu584Val) c.1874A>T (p.Glu625Val) c.1364A>T (p.Glu455Val) c.1541A>T (p.Glu514Val) c.1535A>T (p.Glu512Val) c.1076A>T (p.Glu359Val) c.605A>T (p.Glu202Val) n.2037A>T n.2204A>T c.1952A>T (p.Glu651Val) c.644A>T (p.Glu215Val) n.2254A>T n.2227A>T | |
8 | g.141168359G>A | CA463496962 | DENND3 | c.2109G>A (p.Glu703=) c.1869G>A (p.Glu623=) c.1713G>A (p.Glu571=) c.1882G>A n.1650G>A c.1908G>A (p.Glu636=) c.1752G>A (p.Glu584=) c.1875G>A (p.Glu625=) c.1365G>A (p.Glu455=) c.1542G>A (p.Glu514=) c.1536G>A (p.Glu512=) c.1077G>A (p.Glu359=) c.606G>A (p.Glu202=) n.2038G>A n.2205G>A c.1953G>A (p.Glu651=) c.645G>A (p.Glu215=) n.2255G>A n.2228G>A | |
8 | g.141168359G>C | CA372344234 | DENND3 | c.2109G>C (p.Glu703Asp) c.1869G>C (p.Glu623Asp) c.1713G>C (p.Glu571Asp) c.1882G>C n.1650G>C c.1908G>C (p.Glu636Asp) c.1752G>C (p.Glu584Asp) c.1875G>C (p.Glu625Asp) c.1365G>C (p.Glu455Asp) c.1542G>C (p.Glu514Asp) c.1536G>C (p.Glu512Asp) c.1077G>C (p.Glu359Asp) c.606G>C (p.Glu202Asp) n.2038G>C n.2205G>C c.1953G>C (p.Glu651Asp) c.645G>C (p.Glu215Asp) n.2255G>C n.2228G>C | |
8 | g.141168359G>T | CA372344235 | DENND3 | c.2109G>T (p.Glu703Asp) c.1869G>T (p.Glu623Asp) c.1713G>T (p.Glu571Asp) c.1882G>T n.1650G>T c.1908G>T (p.Glu636Asp) c.1752G>T (p.Glu584Asp) c.1875G>T (p.Glu625Asp) c.1365G>T (p.Glu455Asp) c.1542G>T (p.Glu514Asp) c.1536G>T (p.Glu512Asp) c.1077G>T (p.Glu359Asp) c.606G>T (p.Glu202Asp) n.2038G>T n.2205G>T c.1953G>T (p.Glu651Asp) c.645G>T (p.Glu215Asp) n.2255G>T n.2228G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168360A>C | CA372344236 | DENND3 | c.2110A>C (p.Ile704Leu) c.1870A>C (p.Ile624Leu) c.1714A>C (p.Ile572Leu) c.1883A>C n.1651A>C c.1909A>C (p.Ile637Leu) c.1753A>C (p.Ile585Leu) c.1876A>C (p.Ile626Leu) c.1366A>C (p.Ile456Leu) c.1543A>C (p.Ile515Leu) c.1537A>C (p.Ile513Leu) c.1078A>C (p.Ile360Leu) c.607A>C (p.Ile203Leu) n.2039A>C n.2206A>C c.1954A>C (p.Ile652Leu) c.646A>C (p.Ile216Leu) n.2256A>C n.2229A>C | |
8 | g.141168360A>G | CA372344237 | DENND3 | c.2110A>G (p.Ile704Val) c.1870A>G (p.Ile624Val) c.1714A>G (p.Ile572Val) c.1883A>G n.1651A>G c.1909A>G (p.Ile637Val) c.1753A>G (p.Ile585Val) c.1876A>G (p.Ile626Val) c.1366A>G (p.Ile456Val) c.1543A>G (p.Ile515Val) c.1537A>G (p.Ile513Val) c.1078A>G (p.Ile360Val) c.607A>G (p.Ile203Val) n.2039A>G n.2206A>G c.1954A>G (p.Ile652Val) c.646A>G (p.Ile216Val) n.2256A>G n.2229A>G | |
8 | g.141168360A>T | CA372344238 | DENND3 | c.2110A>T (p.Ile704Phe) c.1870A>T (p.Ile624Phe) c.1714A>T (p.Ile572Phe) c.1883A>T n.1651A>T c.1909A>T (p.Ile637Phe) c.1753A>T (p.Ile585Phe) c.1876A>T (p.Ile626Phe) c.1366A>T (p.Ile456Phe) c.1543A>T (p.Ile515Phe) c.1537A>T (p.Ile513Phe) c.1078A>T (p.Ile360Phe) c.607A>T (p.Ile203Phe) n.2039A>T n.2206A>T c.1954A>T (p.Ile652Phe) c.646A>T (p.Ile216Phe) n.2256A>T n.2229A>T | |
8 | g.141168361T>A | CA372344239 | DENND3 | c.2111T>A (p.Ile704Asn) c.1871T>A (p.Ile624Asn) c.1715T>A (p.Ile572Asn) c.1884T>A n.1652T>A c.1910T>A (p.Ile637Asn) c.1754T>A (p.Ile585Asn) c.1877T>A (p.Ile626Asn) c.1367T>A (p.Ile456Asn) c.1544T>A (p.Ile515Asn) c.1538T>A (p.Ile513Asn) c.1079T>A (p.Ile360Asn) c.608T>A (p.Ile203Asn) n.2040T>A n.2207T>A c.1955T>A (p.Ile652Asn) c.647T>A (p.Ile216Asn) n.2257T>A n.2230T>A | |
8 | g.141168361T>C | CA372344240 | DENND3 | c.2111T>C (p.Ile704Thr) c.1871T>C (p.Ile624Thr) c.1715T>C (p.Ile572Thr) c.1884T>C n.1652T>C c.1910T>C (p.Ile637Thr) c.1754T>C (p.Ile585Thr) c.1877T>C (p.Ile626Thr) c.1367T>C (p.Ile456Thr) c.1544T>C (p.Ile515Thr) c.1538T>C (p.Ile513Thr) c.1079T>C (p.Ile360Thr) c.608T>C (p.Ile203Thr) n.2040T>C n.2207T>C c.1955T>C (p.Ile652Thr) c.647T>C (p.Ile216Thr) n.2257T>C n.2230T>C | |
8 | g.141168361T>G | CA372344241 | DENND3 | c.2111T>G (p.Ile704Ser) c.1871T>G (p.Ile624Ser) c.1715T>G (p.Ile572Ser) c.1884T>G n.1652T>G c.1910T>G (p.Ile637Ser) c.1754T>G (p.Ile585Ser) c.1877T>G (p.Ile626Ser) c.1367T>G (p.Ile456Ser) c.1544T>G (p.Ile515Ser) c.1538T>G (p.Ile513Ser) c.1079T>G (p.Ile360Ser) c.608T>G (p.Ile203Ser) n.2040T>G n.2207T>G c.1955T>G (p.Ile652Ser) c.647T>G (p.Ile216Ser) n.2257T>G n.2230T>G | |
8 | g.141168362C>A | CA4896807 | DENND3 | c.2112C>A (p.Ile704=) c.1872C>A (p.Ile624=) c.1716C>A (p.Ile572=) c.1885C>A n.1653C>A c.1911C>A (p.Ile637=) c.1755C>A (p.Ile585=) c.1878C>A (p.Ile626=) c.1368C>A (p.Ile456=) c.1545C>A (p.Ile515=) c.1539C>A (p.Ile513=) c.1080C>A (p.Ile360=) c.609C>A (p.Ile203=) n.2041C>A n.2208C>A c.1956C>A (p.Ile652=) c.648C>A (p.Ile216=) n.2258C>A n.2231C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168362C>G | CA372344242 | DENND3 | c.2112C>G (p.Ile704Met) c.1872C>G (p.Ile624Met) c.1716C>G (p.Ile572Met) c.1885C>G n.1653C>G c.1911C>G (p.Ile637Met) c.1755C>G (p.Ile585Met) c.1878C>G (p.Ile626Met) c.1368C>G (p.Ile456Met) c.1545C>G (p.Ile515Met) c.1539C>G (p.Ile513Met) c.1080C>G (p.Ile360Met) c.609C>G (p.Ile203Met) n.2041C>G n.2208C>G c.1956C>G (p.Ile652Met) c.648C>G (p.Ile216Met) n.2258C>G n.2231C>G | |
8 | g.141168362C>T | CA463496963 | DENND3 | c.2112C>T (p.Ile704=) c.1872C>T (p.Ile624=) c.1716C>T (p.Ile572=) c.1885C>T n.1653C>T c.1911C>T (p.Ile637=) c.1755C>T (p.Ile585=) c.1878C>T (p.Ile626=) c.1368C>T (p.Ile456=) c.1545C>T (p.Ile515=) c.1539C>T (p.Ile513=) c.1080C>T (p.Ile360=) c.609C>T (p.Ile203=) n.2041C>T n.2208C>T c.1956C>T (p.Ile652=) c.648C>T (p.Ile216=) n.2258C>T n.2231C>T | |
8 | g.141168363C>A | CA372344243 | DENND3 | c.2113C>A (p.Leu705Met) c.1873C>A (p.Leu625Met) c.1717C>A (p.Leu573Met) c.1886C>A n.1654C>A c.1912C>A (p.Leu638Met) c.1756C>A (p.Leu586Met) c.1879C>A (p.Leu627Met) c.1369C>A (p.Leu457Met) c.1546C>A (p.Leu516Met) c.1540C>A (p.Leu514Met) c.1081C>A (p.Leu361Met) c.610C>A (p.Leu204Met) n.2042C>A n.2209C>A c.1957C>A (p.Leu653Met) c.649C>A (p.Leu217Met) n.2259C>A n.2232C>A | |
8 | g.141168363C>G | CA372344244 | DENND3 | c.2113C>G (p.Leu705Val) c.1873C>G (p.Leu625Val) c.1717C>G (p.Leu573Val) c.1886C>G n.1654C>G c.1912C>G (p.Leu638Val) c.1756C>G (p.Leu586Val) c.1879C>G (p.Leu627Val) c.1369C>G (p.Leu457Val) c.1546C>G (p.Leu516Val) c.1540C>G (p.Leu514Val) c.1081C>G (p.Leu361Val) c.610C>G (p.Leu204Val) n.2042C>G n.2209C>G c.1957C>G (p.Leu653Val) c.649C>G (p.Leu217Val) n.2259C>G n.2232C>G | |
8 | g.141168363C>T | CA463496964 | DENND3 | c.2113C>T (p.Leu705=) c.1873C>T (p.Leu625=) c.1717C>T (p.Leu573=) c.1886C>T n.1654C>T c.1912C>T (p.Leu638=) c.1756C>T (p.Leu586=) c.1879C>T (p.Leu627=) c.1369C>T (p.Leu457=) c.1546C>T (p.Leu516=) c.1540C>T (p.Leu514=) c.1081C>T (p.Leu361=) c.610C>T (p.Leu204=) n.2042C>T n.2209C>T c.1957C>T (p.Leu653=) c.649C>T (p.Leu217=) n.2259C>T n.2232C>T | |
8 | g.141168364T>A | CA372344245 | DENND3 | c.2114T>A (p.Leu705Gln) c.1874T>A (p.Leu625Gln) c.1718T>A (p.Leu573Gln) c.1887T>A n.1655T>A c.1913T>A (p.Leu638Gln) c.1757T>A (p.Leu586Gln) c.1880T>A (p.Leu627Gln) c.1370T>A (p.Leu457Gln) c.1547T>A (p.Leu516Gln) c.1541T>A (p.Leu514Gln) c.1082T>A (p.Leu361Gln) c.611T>A (p.Leu204Gln) n.2043T>A n.2210T>A c.1958T>A (p.Leu653Gln) c.650T>A (p.Leu217Gln) n.2260T>A n.2233T>A | dbSNP gnomAD v4 |
8 | g.141168364T>C | CA372344246 | DENND3 | c.2114T>C (p.Leu705Pro) c.1874T>C (p.Leu625Pro) c.1718T>C (p.Leu573Pro) c.1887T>C n.1655T>C c.1913T>C (p.Leu638Pro) c.1757T>C (p.Leu586Pro) c.1880T>C (p.Leu627Pro) c.1370T>C (p.Leu457Pro) c.1547T>C (p.Leu516Pro) c.1541T>C (p.Leu514Pro) c.1082T>C (p.Leu361Pro) c.611T>C (p.Leu204Pro) n.2043T>C n.2210T>C c.1958T>C (p.Leu653Pro) c.650T>C (p.Leu217Pro) n.2260T>C n.2233T>C | gnomAD v4 |
8 | g.141168364T>G | CA372344247 | DENND3 | c.2114T>G (p.Leu705Arg) c.1874T>G (p.Leu625Arg) c.1718T>G (p.Leu573Arg) c.1887T>G n.1655T>G c.1913T>G (p.Leu638Arg) c.1757T>G (p.Leu586Arg) c.1880T>G (p.Leu627Arg) c.1370T>G (p.Leu457Arg) c.1547T>G (p.Leu516Arg) c.1541T>G (p.Leu514Arg) c.1082T>G (p.Leu361Arg) c.611T>G (p.Leu204Arg) n.2043T>G n.2210T>G c.1958T>G (p.Leu653Arg) c.650T>G (p.Leu217Arg) n.2260T>G n.2233T>G | |
8 | g.141168365G>A | CA463496965 | DENND3 | c.2115G>A (p.Leu705=) c.1875G>A (p.Leu625=) c.1719G>A (p.Leu573=) c.1888G>A n.1656G>A c.1914G>A (p.Leu638=) c.1758G>A (p.Leu586=) c.1881G>A (p.Leu627=) c.1371G>A (p.Leu457=) c.1548G>A (p.Leu516=) c.1542G>A (p.Leu514=) c.1083G>A (p.Leu361=) c.612G>A (p.Leu204=) n.2044G>A n.2211G>A c.1959G>A (p.Leu653=) c.651G>A (p.Leu217=) n.2261G>A n.2234G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168365G>C | CA463496966 | DENND3 | c.2115G>C (p.Leu705=) c.1875G>C (p.Leu625=) c.1719G>C (p.Leu573=) c.1888G>C n.1656G>C c.1914G>C (p.Leu638=) c.1758G>C (p.Leu586=) c.1881G>C (p.Leu627=) c.1371G>C (p.Leu457=) c.1548G>C (p.Leu516=) c.1542G>C (p.Leu514=) c.1083G>C (p.Leu361=) c.612G>C (p.Leu204=) n.2044G>C n.2211G>C c.1959G>C (p.Leu653=) c.651G>C (p.Leu217=) n.2261G>C n.2234G>C | |
8 | g.141168365G>T | CA463496967 | DENND3 | c.2115G>T (p.Leu705=) c.1875G>T (p.Leu625=) c.1719G>T (p.Leu573=) c.1888G>T n.1656G>T c.1914G>T (p.Leu638=) c.1758G>T (p.Leu586=) c.1881G>T (p.Leu627=) c.1371G>T (p.Leu457=) c.1548G>T (p.Leu516=) c.1542G>T (p.Leu514=) c.1083G>T (p.Leu361=) c.612G>T (p.Leu204=) n.2044G>T n.2211G>T c.1959G>T (p.Leu653=) c.651G>T (p.Leu217=) n.2261G>T n.2234G>T | |
8 | g.141168366G>A | CA372344248 | DENND3 | c.2116G>A (p.Asp706Asn) c.1876G>A (p.Asp626Asn) c.1720G>A (p.Asp574Asn) c.1889G>A n.1657G>A c.1915G>A (p.Asp639Asn) c.1759G>A (p.Asp587Asn) c.1882G>A (p.Asp628Asn) c.1372G>A (p.Asp458Asn) c.1549G>A (p.Asp517Asn) c.1543G>A (p.Asp515Asn) c.1084G>A (p.Asp362Asn) c.613G>A (p.Asp205Asn) n.2045G>A n.2212G>A c.1960G>A (p.Asp654Asn) c.652G>A (p.Asp218Asn) n.2262G>A n.2235G>A | |
8 | g.141168366G>C | CA372344249 | DENND3 | c.2116G>C (p.Asp706His) c.1876G>C (p.Asp626His) c.1720G>C (p.Asp574His) c.1889G>C n.1657G>C c.1915G>C (p.Asp639His) c.1759G>C (p.Asp587His) c.1882G>C (p.Asp628His) c.1372G>C (p.Asp458His) c.1549G>C (p.Asp517His) c.1543G>C (p.Asp515His) c.1084G>C (p.Asp362His) c.613G>C (p.Asp205His) n.2045G>C n.2212G>C c.1960G>C (p.Asp654His) c.652G>C (p.Asp218His) n.2262G>C n.2235G>C | |
8 | g.141168366G>T | CA372344250 | DENND3 | c.2116G>T (p.Asp706Tyr) c.1876G>T (p.Asp626Tyr) c.1720G>T (p.Asp574Tyr) c.1889G>T n.1657G>T c.1915G>T (p.Asp639Tyr) c.1759G>T (p.Asp587Tyr) c.1882G>T (p.Asp628Tyr) c.1372G>T (p.Asp458Tyr) c.1549G>T (p.Asp517Tyr) c.1543G>T (p.Asp515Tyr) c.1084G>T (p.Asp362Tyr) c.613G>T (p.Asp205Tyr) n.2045G>T n.2212G>T c.1960G>T (p.Asp654Tyr) c.652G>T (p.Asp218Tyr) n.2262G>T n.2235G>T | |
8 | g.141168367A>C | CA372344251 | DENND3 | c.2117A>C (p.Asp706Ala) c.1877A>C (p.Asp626Ala) c.1721A>C (p.Asp574Ala) c.1890A>C n.1658A>C c.1916A>C (p.Asp639Ala) c.1760A>C (p.Asp587Ala) c.1883A>C (p.Asp628Ala) c.1373A>C (p.Asp458Ala) c.1550A>C (p.Asp517Ala) c.1544A>C (p.Asp515Ala) c.1085A>C (p.Asp362Ala) c.614A>C (p.Asp205Ala) n.2046A>C n.2213A>C c.1961A>C (p.Asp654Ala) c.653A>C (p.Asp218Ala) n.2263A>C n.2236A>C | |
8 | g.141168367A>G | CA372344252 | DENND3 | c.2117A>G (p.Asp706Gly) c.1877A>G (p.Asp626Gly) c.1721A>G (p.Asp574Gly) c.1890A>G n.1658A>G c.1916A>G (p.Asp639Gly) c.1760A>G (p.Asp587Gly) c.1883A>G (p.Asp628Gly) c.1373A>G (p.Asp458Gly) c.1550A>G (p.Asp517Gly) c.1544A>G (p.Asp515Gly) c.1085A>G (p.Asp362Gly) c.614A>G (p.Asp205Gly) n.2046A>G n.2213A>G c.1961A>G (p.Asp654Gly) c.653A>G (p.Asp218Gly) n.2263A>G n.2236A>G | |
8 | g.141168367A>T | CA372344253 | DENND3 | c.2117A>T (p.Asp706Val) c.1877A>T (p.Asp626Val) c.1721A>T (p.Asp574Val) c.1890A>T n.1658A>T c.1916A>T (p.Asp639Val) c.1760A>T (p.Asp587Val) c.1883A>T (p.Asp628Val) c.1373A>T (p.Asp458Val) c.1550A>T (p.Asp517Val) c.1544A>T (p.Asp515Val) c.1085A>T (p.Asp362Val) c.614A>T (p.Asp205Val) n.2046A>T n.2213A>T c.1961A>T (p.Asp654Val) c.653A>T (p.Asp218Val) n.2263A>T n.2236A>T | |
8 | g.141168368C>A | CA372344254 | DENND3 | c.2118C>A (p.Asp706Glu) c.1878C>A (p.Asp626Glu) c.1722C>A (p.Asp574Glu) c.1891C>A n.1659C>A c.1917C>A (p.Asp639Glu) c.1761C>A (p.Asp587Glu) c.1884C>A (p.Asp628Glu) c.1374C>A (p.Asp458Glu) c.1551C>A (p.Asp517Glu) c.1545C>A (p.Asp515Glu) c.1086C>A (p.Asp362Glu) c.615C>A (p.Asp205Glu) n.2047C>A n.2214C>A c.1962C>A (p.Asp654Glu) c.654C>A (p.Asp218Glu) n.2264C>A n.2237C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168368C>G | CA4896808 | DENND3 | c.2118C>G (p.Asp706Glu) c.1878C>G (p.Asp626Glu) c.1722C>G (p.Asp574Glu) c.1891C>G n.1659C>G c.1917C>G (p.Asp639Glu) c.1761C>G (p.Asp587Glu) c.1884C>G (p.Asp628Glu) c.1374C>G (p.Asp458Glu) c.1551C>G (p.Asp517Glu) c.1545C>G (p.Asp515Glu) c.1086C>G (p.Asp362Glu) c.615C>G (p.Asp205Glu) n.2047C>G n.2214C>G c.1962C>G (p.Asp654Glu) c.654C>G (p.Asp218Glu) n.2264C>G n.2237C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168368C>T | CA463496968 | DENND3 | c.2118C>T (p.Asp706=) c.1878C>T (p.Asp626=) c.1722C>T (p.Asp574=) c.1891C>T n.1659C>T c.1917C>T (p.Asp639=) c.1761C>T (p.Asp587=) c.1884C>T (p.Asp628=) c.1374C>T (p.Asp458=) c.1551C>T (p.Asp517=) c.1545C>T (p.Asp515=) c.1086C>T (p.Asp362=) c.615C>T (p.Asp205=) n.2047C>T n.2214C>T c.1962C>T (p.Asp654=) c.654C>T (p.Asp218=) n.2264C>T n.2237C>T | gnomAD v4 |
8 | g.141168369A>C | CA372344255 | DENND3 | c.2119A>C (p.Lys707Gln) c.1879A>C (p.Lys627Gln) c.1723A>C (p.Lys575Gln) c.1892A>C n.1660A>C c.1918A>C (p.Lys640Gln) c.1762A>C (p.Lys588Gln) c.1885A>C (p.Lys629Gln) c.1375A>C (p.Lys459Gln) c.1552A>C (p.Lys518Gln) c.1546A>C (p.Lys516Gln) c.1087A>C (p.Lys363Gln) c.616A>C (p.Lys206Gln) n.2048A>C n.2215A>C c.1963A>C (p.Lys655Gln) c.655A>C (p.Lys219Gln) n.2265A>C n.2238A>C | |
8 | g.141168369A>G | CA372344257 | DENND3 | c.2119A>G (p.Lys707Glu) c.1879A>G (p.Lys627Glu) c.1723A>G (p.Lys575Glu) c.1892A>G n.1660A>G c.1918A>G (p.Lys640Glu) c.1762A>G (p.Lys588Glu) c.1885A>G (p.Lys629Glu) c.1375A>G (p.Lys459Glu) c.1552A>G (p.Lys518Glu) c.1546A>G (p.Lys516Glu) c.1087A>G (p.Lys363Glu) c.616A>G (p.Lys206Glu) n.2048A>G n.2215A>G c.1963A>G (p.Lys655Glu) c.655A>G (p.Lys219Glu) n.2265A>G n.2238A>G | gnomAD v4 |
8 | g.141168369A>T | CA372344256 | DENND3 | c.2119A>T (p.Lys707Ter) c.1879A>T (p.Lys627Ter) c.1723A>T (p.Lys575Ter) c.1892A>T n.1660A>T c.1918A>T (p.Lys640Ter) c.1762A>T (p.Lys588Ter) c.1885A>T (p.Lys629Ter) c.1375A>T (p.Lys459Ter) c.1552A>T (p.Lys518Ter) c.1546A>T (p.Lys516Ter) c.1087A>T (p.Lys363Ter) c.616A>T (p.Lys206Ter) n.2048A>T n.2215A>T c.1963A>T (p.Lys655Ter) c.655A>T (p.Lys219Ter) n.2265A>T n.2238A>T | |
8 | g.141168370A>C | CA372344258 | DENND3 | c.2120A>C (p.Lys707Thr) c.1880A>C (p.Lys627Thr) c.1724A>C (p.Lys575Thr) c.1893A>C n.1661A>C c.1919A>C (p.Lys640Thr) c.1763A>C (p.Lys588Thr) c.1886A>C (p.Lys629Thr) c.1376A>C (p.Lys459Thr) c.1553A>C (p.Lys518Thr) c.1547A>C (p.Lys516Thr) c.1088A>C (p.Lys363Thr) c.617A>C (p.Lys206Thr) n.2049A>C n.2216A>C c.1964A>C (p.Lys655Thr) c.656A>C (p.Lys219Thr) n.2266A>C n.2239A>C | |
8 | g.141168370A>G | CA372344260 | DENND3 | c.2120A>G (p.Lys707Arg) c.1880A>G (p.Lys627Arg) c.1724A>G (p.Lys575Arg) c.1893A>G n.1661A>G c.1919A>G (p.Lys640Arg) c.1763A>G (p.Lys588Arg) c.1886A>G (p.Lys629Arg) c.1376A>G (p.Lys459Arg) c.1553A>G (p.Lys518Arg) c.1547A>G (p.Lys516Arg) c.1088A>G (p.Lys363Arg) c.617A>G (p.Lys206Arg) n.2049A>G n.2216A>G c.1964A>G (p.Lys655Arg) c.656A>G (p.Lys219Arg) n.2266A>G n.2239A>G | |
8 | g.141168370A>T | CA372344259 | DENND3 | c.2120A>T (p.Lys707Met) c.1880A>T (p.Lys627Met) c.1724A>T (p.Lys575Met) c.1893A>T n.1661A>T c.1919A>T (p.Lys640Met) c.1763A>T (p.Lys588Met) c.1886A>T (p.Lys629Met) c.1376A>T (p.Lys459Met) c.1553A>T (p.Lys518Met) c.1547A>T (p.Lys516Met) c.1088A>T (p.Lys363Met) c.617A>T (p.Lys206Met) n.2049A>T n.2216A>T c.1964A>T (p.Lys655Met) c.656A>T (p.Lys219Met) n.2266A>T n.2239A>T | |
8 | g.141168371G>A | CA463496969 | DENND3 | c.2121G>A (p.Lys707=) c.1881G>A (p.Lys627=) c.1725G>A (p.Lys575=) c.1894G>A n.1662G>A c.1920G>A (p.Lys640=) c.1764G>A (p.Lys588=) c.1887G>A (p.Lys629=) c.1377G>A (p.Lys459=) c.1554G>A (p.Lys518=) c.1548G>A (p.Lys516=) c.1089G>A (p.Lys363=) c.618G>A (p.Lys206=) n.2050G>A n.2217G>A c.1965G>A (p.Lys655=) c.657G>A (p.Lys219=) n.2267G>A n.2240G>A | |
8 | g.141168371G>C | CA372344261 | DENND3 | c.2121G>C (p.Lys707Asn) c.1881G>C (p.Lys627Asn) c.1725G>C (p.Lys575Asn) c.1894G>C n.1662G>C c.1920G>C (p.Lys640Asn) c.1764G>C (p.Lys588Asn) c.1887G>C (p.Lys629Asn) c.1377G>C (p.Lys459Asn) c.1554G>C (p.Lys518Asn) c.1548G>C (p.Lys516Asn) c.1089G>C (p.Lys363Asn) c.618G>C (p.Lys206Asn) n.2050G>C n.2217G>C c.1965G>C (p.Lys655Asn) c.657G>C (p.Lys219Asn) n.2267G>C n.2240G>C | |
8 | g.141168371G>T | CA372344262 | DENND3 | c.2121G>T (p.Lys707Asn) c.1881G>T (p.Lys627Asn) c.1725G>T (p.Lys575Asn) c.1894G>T n.1662G>T c.1920G>T (p.Lys640Asn) c.1764G>T (p.Lys588Asn) c.1887G>T (p.Lys629Asn) c.1377G>T (p.Lys459Asn) c.1554G>T (p.Lys518Asn) c.1548G>T (p.Lys516Asn) c.1089G>T (p.Lys363Asn) c.618G>T (p.Lys206Asn) n.2050G>T n.2217G>T c.1965G>T (p.Lys655Asn) c.657G>T (p.Lys219Asn) n.2267G>T n.2240G>T | |
8 | g.141168372C>A | CA372344263 | DENND3 | c.2122C>A (p.Pro708Thr) c.1882C>A (p.Pro628Thr) c.1726C>A (p.Pro576Thr) c.1895C>A n.1663C>A c.1921C>A (p.Pro641Thr) c.1765C>A (p.Pro589Thr) c.1888C>A (p.Pro630Thr) c.1378C>A (p.Pro460Thr) c.1555C>A (p.Pro519Thr) c.1549C>A (p.Pro517Thr) c.1090C>A (p.Pro364Thr) c.619C>A (p.Pro207Thr) n.2051C>A n.2218C>A c.1966C>A (p.Pro656Thr) c.658C>A (p.Pro220Thr) n.2268C>A n.2241C>A | |
8 | g.141168372C>G | CA372344265 | DENND3 | c.2122C>G (p.Pro708Ala) c.1882C>G (p.Pro628Ala) c.1726C>G (p.Pro576Ala) c.1895C>G n.1663C>G c.1921C>G (p.Pro641Ala) c.1765C>G (p.Pro589Ala) c.1888C>G (p.Pro630Ala) c.1378C>G (p.Pro460Ala) c.1555C>G (p.Pro519Ala) c.1549C>G (p.Pro517Ala) c.1090C>G (p.Pro364Ala) c.619C>G (p.Pro207Ala) n.2051C>G n.2218C>G c.1966C>G (p.Pro656Ala) c.658C>G (p.Pro220Ala) n.2268C>G n.2241C>G | |
8 | g.141168372C>T | CA372344264 | DENND3 | c.2122C>T (p.Pro708Ser) c.1882C>T (p.Pro628Ser) c.1726C>T (p.Pro576Ser) c.1895C>T n.1663C>T c.1921C>T (p.Pro641Ser) c.1765C>T (p.Pro589Ser) c.1888C>T (p.Pro630Ser) c.1378C>T (p.Pro460Ser) c.1555C>T (p.Pro519Ser) c.1549C>T (p.Pro517Ser) c.1090C>T (p.Pro364Ser) c.619C>T (p.Pro207Ser) n.2051C>T n.2218C>T c.1966C>T (p.Pro656Ser) c.658C>T (p.Pro220Ser) n.2268C>T n.2241C>T | |
8 | g.141168373C>A | CA372344266 | DENND3 | c.2123C>A (p.Pro708Gln) c.1883C>A (p.Pro628Gln) c.1727C>A (p.Pro576Gln) c.1896C>A n.1664C>A c.1922C>A (p.Pro641Gln) c.1766C>A (p.Pro589Gln) c.1889C>A (p.Pro630Gln) c.1379C>A (p.Pro460Gln) c.1556C>A (p.Pro519Gln) c.1550C>A (p.Pro517Gln) c.1091C>A (p.Pro364Gln) c.620C>A (p.Pro207Gln) n.2052C>A n.2219C>A c.1967C>A (p.Pro656Gln) c.659C>A (p.Pro220Gln) n.2269C>A n.2242C>A | |
8 | g.141168373C>G | CA372344267 | DENND3 | c.2123C>G (p.Pro708Arg) c.1883C>G (p.Pro628Arg) c.1727C>G (p.Pro576Arg) c.1896C>G n.1664C>G c.1922C>G (p.Pro641Arg) c.1766C>G (p.Pro589Arg) c.1889C>G (p.Pro630Arg) c.1379C>G (p.Pro460Arg) c.1556C>G (p.Pro519Arg) c.1550C>G (p.Pro517Arg) c.1091C>G (p.Pro364Arg) c.620C>G (p.Pro207Arg) n.2052C>G n.2219C>G c.1967C>G (p.Pro656Arg) c.659C>G (p.Pro220Arg) n.2269C>G n.2242C>G | |
8 | g.141168373C>T | CA4896809 | DENND3 | c.2123C>T (p.Pro708Leu) c.1883C>T (p.Pro628Leu) c.1727C>T (p.Pro576Leu) c.1896C>T n.1664C>T c.1922C>T (p.Pro641Leu) c.1766C>T (p.Pro589Leu) c.1889C>T (p.Pro630Leu) c.1379C>T (p.Pro460Leu) c.1556C>T (p.Pro519Leu) c.1550C>T (p.Pro517Leu) c.1091C>T (p.Pro364Leu) c.620C>T (p.Pro207Leu) n.2052C>T n.2219C>T c.1967C>T (p.Pro656Leu) c.659C>T (p.Pro220Leu) n.2269C>T n.2242C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168374G>A | CA4896810 | DENND3 | c.2124G>A (p.Pro708=) c.1884G>A (p.Pro628=) c.1728G>A (p.Pro576=) c.1897G>A n.1665G>A c.1923G>A (p.Pro641=) c.1767G>A (p.Pro589=) c.1890G>A (p.Pro630=) c.1380G>A (p.Pro460=) c.1557G>A (p.Pro519=) c.1551G>A (p.Pro517=) c.1092G>A (p.Pro364=) c.621G>A (p.Pro207=) n.2053G>A n.2220G>A c.1968G>A (p.Pro656=) c.660G>A (p.Pro220=) n.2270G>A n.2243G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168374G>C | CA463496970 | DENND3 | c.2124G>C (p.Pro708=) c.1884G>C (p.Pro628=) c.1728G>C (p.Pro576=) c.1897G>C n.1665G>C c.1923G>C (p.Pro641=) c.1767G>C (p.Pro589=) c.1890G>C (p.Pro630=) c.1380G>C (p.Pro460=) c.1557G>C (p.Pro519=) c.1551G>C (p.Pro517=) c.1092G>C (p.Pro364=) c.621G>C (p.Pro207=) n.2053G>C n.2220G>C c.1968G>C (p.Pro656=) c.660G>C (p.Pro220=) n.2270G>C n.2243G>C | |
8 | g.141168374G>T | CA463496971 | DENND3 | c.2124G>T (p.Pro708=) c.1884G>T (p.Pro628=) c.1728G>T (p.Pro576=) c.1897G>T n.1665G>T c.1923G>T (p.Pro641=) c.1767G>T (p.Pro589=) c.1890G>T (p.Pro630=) c.1380G>T (p.Pro460=) c.1557G>T (p.Pro519=) c.1551G>T (p.Pro517=) c.1092G>T (p.Pro364=) c.621G>T (p.Pro207=) n.2053G>T n.2220G>T c.1968G>T (p.Pro656=) c.660G>T (p.Pro220=) n.2270G>T n.2243G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168375C>A | CA372344268 | DENND3 | c.2125C>A (p.His709Asn) c.1885C>A (p.His629Asn) c.1729C>A (p.His577Asn) c.1898C>A n.1666C>A c.1924C>A (p.His642Asn) c.1768C>A (p.His590Asn) c.1891C>A (p.His631Asn) c.1381C>A (p.His461Asn) c.1558C>A (p.His520Asn) c.1552C>A (p.His518Asn) c.1093C>A (p.His365Asn) c.622C>A (p.His208Asn) n.2054C>A n.2221C>A c.1969C>A (p.His657Asn) c.661C>A (p.His221Asn) n.2271C>A n.2244C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168375C>G | CA372344269 | DENND3 | c.2125C>G (p.His709Asp) c.1885C>G (p.His629Asp) c.1729C>G (p.His577Asp) c.1898C>G n.1666C>G c.1924C>G (p.His642Asp) c.1768C>G (p.His590Asp) c.1891C>G (p.His631Asp) c.1381C>G (p.His461Asp) c.1558C>G (p.His520Asp) c.1552C>G (p.His518Asp) c.1093C>G (p.His365Asp) c.622C>G (p.His208Asp) n.2054C>G n.2221C>G c.1969C>G (p.His657Asp) c.661C>G (p.His221Asp) n.2271C>G n.2244C>G | |
8 | g.141168375C>T | CA372344270 | DENND3 | c.2125C>T (p.His709Tyr) c.1885C>T (p.His629Tyr) c.1729C>T (p.His577Tyr) c.1898C>T n.1666C>T c.1924C>T (p.His642Tyr) c.1768C>T (p.His590Tyr) c.1891C>T (p.His631Tyr) c.1381C>T (p.His461Tyr) c.1558C>T (p.His520Tyr) c.1552C>T (p.His518Tyr) c.1093C>T (p.His365Tyr) c.622C>T (p.His208Tyr) n.2054C>T n.2221C>T c.1969C>T (p.His657Tyr) c.661C>T (p.His221Tyr) n.2271C>T n.2244C>T | gnomAD v4 |
8 | g.141168376A>C | CA372344271 | DENND3 | c.2126A>C (p.His709Pro) c.1886A>C (p.His629Pro) c.1730A>C (p.His577Pro) c.1899A>C n.1667A>C c.1925A>C (p.His642Pro) c.1769A>C (p.His590Pro) c.1892A>C (p.His631Pro) c.1382A>C (p.His461Pro) c.1559A>C (p.His520Pro) c.1553A>C (p.His518Pro) c.1094A>C (p.His365Pro) c.623A>C (p.His208Pro) n.2055A>C n.2222A>C c.1970A>C (p.His657Pro) c.662A>C (p.His221Pro) n.2272A>C n.2245A>C | |
8 | g.141168376A>G | CA372344272 | DENND3 | c.2126A>G (p.His709Arg) c.1886A>G (p.His629Arg) c.1730A>G (p.His577Arg) c.1899A>G n.1667A>G c.1925A>G (p.His642Arg) c.1769A>G (p.His590Arg) c.1892A>G (p.His631Arg) c.1382A>G (p.His461Arg) c.1559A>G (p.His520Arg) c.1553A>G (p.His518Arg) c.1094A>G (p.His365Arg) c.623A>G (p.His208Arg) n.2055A>G n.2222A>G c.1970A>G (p.His657Arg) c.662A>G (p.His221Arg) n.2272A>G n.2245A>G | COSMIC |
8 | g.141168376A>T | CA372344273 | DENND3 | c.2126A>T (p.His709Leu) c.1886A>T (p.His629Leu) c.1730A>T (p.His577Leu) c.1899A>T n.1667A>T c.1925A>T (p.His642Leu) c.1769A>T (p.His590Leu) c.1892A>T (p.His631Leu) c.1382A>T (p.His461Leu) c.1559A>T (p.His520Leu) c.1553A>T (p.His518Leu) c.1094A>T (p.His365Leu) c.623A>T (p.His208Leu) n.2055A>T n.2222A>T c.1970A>T (p.His657Leu) c.662A>T (p.His221Leu) n.2272A>T n.2245A>T | gnomAD v4 |
8 | g.141168377C>A | CA372344275 | DENND3 | c.2127C>A (p.His709Gln) c.1887C>A (p.His629Gln) c.1731C>A (p.His577Gln) c.1900C>A n.1668C>A c.1926C>A (p.His642Gln) c.1770C>A (p.His590Gln) c.1893C>A (p.His631Gln) c.1383C>A (p.His461Gln) c.1560C>A (p.His520Gln) c.1554C>A (p.His518Gln) c.1095C>A (p.His365Gln) c.624C>A (p.His208Gln) n.2056C>A n.2223C>A c.1971C>A (p.His657Gln) c.663C>A (p.His221Gln) n.2273C>A n.2246C>A | |
8 | g.141168377C>G | CA372344274 | DENND3 | c.2127C>G (p.His709Gln) c.1887C>G (p.His629Gln) c.1731C>G (p.His577Gln) c.1900C>G n.1668C>G c.1926C>G (p.His642Gln) c.1770C>G (p.His590Gln) c.1893C>G (p.His631Gln) c.1383C>G (p.His461Gln) c.1560C>G (p.His520Gln) c.1554C>G (p.His518Gln) c.1095C>G (p.His365Gln) c.624C>G (p.His208Gln) n.2056C>G n.2223C>G c.1971C>G (p.His657Gln) c.663C>G (p.His221Gln) n.2273C>G n.2246C>G | |
8 | g.141168377C>T | CA4896811 | DENND3 | c.2127C>T (p.His709=) c.1887C>T (p.His629=) c.1731C>T (p.His577=) c.1900C>T n.1668C>T c.1926C>T (p.His642=) c.1770C>T (p.His590=) c.1893C>T (p.His631=) c.1383C>T (p.His461=) c.1560C>T (p.His520=) c.1554C>T (p.His518=) c.1095C>T (p.His365=) c.624C>T (p.His208=) n.2056C>T n.2223C>T c.1971C>T (p.His657=) c.663C>T (p.His221=) n.2273C>T n.2246C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168378G>A | CA372344276 | DENND3 | c.2128G>A (p.Glu710Lys) c.1888G>A (p.Glu630Lys) c.1732G>A (p.Glu578Lys) c.1901G>A n.1669G>A c.1927G>A (p.Glu643Lys) c.1771G>A (p.Glu591Lys) c.1894G>A (p.Glu632Lys) c.1384G>A (p.Glu462Lys) c.1561G>A (p.Glu521Lys) c.1555G>A (p.Glu519Lys) c.1096G>A (p.Glu366Lys) c.625G>A (p.Glu209Lys) n.2057G>A n.2224G>A c.1972G>A (p.Glu658Lys) c.664G>A (p.Glu222Lys) n.2274G>A n.2247G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.141168378G>C | CA372344277 | DENND3 | c.2128G>C (p.Glu710Gln) c.1888G>C (p.Glu630Gln) c.1732G>C (p.Glu578Gln) c.1901G>C n.1669G>C c.1927G>C (p.Glu643Gln) c.1771G>C (p.Glu591Gln) c.1894G>C (p.Glu632Gln) c.1384G>C (p.Glu462Gln) c.1561G>C (p.Glu521Gln) c.1555G>C (p.Glu519Gln) c.1096G>C (p.Glu366Gln) c.625G>C (p.Glu209Gln) n.2057G>C n.2224G>C c.1972G>C (p.Glu658Gln) c.664G>C (p.Glu222Gln) n.2274G>C n.2247G>C | gnomAD v4 |
8 | g.141168378G>T | CA372344278 | DENND3 | c.2128G>T (p.Glu710Ter) c.1888G>T (p.Glu630Ter) c.1732G>T (p.Glu578Ter) c.1901G>T n.1669G>T c.1927G>T (p.Glu643Ter) c.1771G>T (p.Glu591Ter) c.1894G>T (p.Glu632Ter) c.1384G>T (p.Glu462Ter) c.1561G>T (p.Glu521Ter) c.1555G>T (p.Glu519Ter) c.1096G>T (p.Glu366Ter) c.625G>T (p.Glu209Ter) n.2057G>T n.2224G>T c.1972G>T (p.Glu658Ter) c.664G>T (p.Glu222Ter) n.2274G>T n.2247G>T | |
8 | g.141168379A>C | CA372344279 | DENND3 | c.2129A>C (p.Glu710Ala) c.1889A>C (p.Glu630Ala) c.1733A>C (p.Glu578Ala) c.1902A>C n.1670A>C c.1928A>C (p.Glu643Ala) c.1772A>C (p.Glu591Ala) c.1895A>C (p.Glu632Ala) c.1385A>C (p.Glu462Ala) c.1562A>C (p.Glu521Ala) c.1556A>C (p.Glu519Ala) c.1097A>C (p.Glu366Ala) c.626A>C (p.Glu209Ala) n.2058A>C n.2225A>C c.1973A>C (p.Glu658Ala) c.665A>C (p.Glu222Ala) n.2275A>C n.2248A>C | gnomAD v4 |
8 | g.141168379A>G | CA372344280 | DENND3 | c.2129A>G (p.Glu710Gly) c.1889A>G (p.Glu630Gly) c.1733A>G (p.Glu578Gly) c.1902A>G n.1670A>G c.1928A>G (p.Glu643Gly) c.1772A>G (p.Glu591Gly) c.1895A>G (p.Glu632Gly) c.1385A>G (p.Glu462Gly) c.1562A>G (p.Glu521Gly) c.1556A>G (p.Glu519Gly) c.1097A>G (p.Glu366Gly) c.626A>G (p.Glu209Gly) n.2058A>G n.2225A>G c.1973A>G (p.Glu658Gly) c.665A>G (p.Glu222Gly) n.2275A>G n.2248A>G | |
8 | g.141168379A>T | CA372344281 | DENND3 | c.2129A>T (p.Glu710Val) c.1889A>T (p.Glu630Val) c.1733A>T (p.Glu578Val) c.1902A>T n.1670A>T c.1928A>T (p.Glu643Val) c.1772A>T (p.Glu591Val) c.1895A>T (p.Glu632Val) c.1385A>T (p.Glu462Val) c.1562A>T (p.Glu521Val) c.1556A>T (p.Glu519Val) c.1097A>T (p.Glu366Val) c.626A>T (p.Glu209Val) n.2058A>T n.2225A>T c.1973A>T (p.Glu658Val) c.665A>T (p.Glu222Val) n.2275A>T n.2248A>T | |
8 | g.141168380G>A | CA463496972 | DENND3 | c.2130G>A (p.Glu710=) c.1890G>A (p.Glu630=) c.1734G>A (p.Glu578=) c.1903G>A n.1671G>A c.1929G>A (p.Glu643=) c.1773G>A (p.Glu591=) c.1896G>A (p.Glu632=) c.1386G>A (p.Glu462=) c.1563G>A (p.Glu521=) c.1557G>A (p.Glu519=) c.1098G>A (p.Glu366=) c.627G>A (p.Glu209=) n.2059G>A n.2226G>A c.1974G>A (p.Glu658=) c.666G>A (p.Glu222=) n.2276G>A n.2249G>A | |
8 | g.141168380G>C | CA372344282 | DENND3 | c.2130G>C (p.Glu710Asp) c.1890G>C (p.Glu630Asp) c.1734G>C (p.Glu578Asp) c.1903G>C n.1671G>C c.1929G>C (p.Glu643Asp) c.1773G>C (p.Glu591Asp) c.1896G>C (p.Glu632Asp) c.1386G>C (p.Glu462Asp) c.1563G>C (p.Glu521Asp) c.1557G>C (p.Glu519Asp) c.1098G>C (p.Glu366Asp) c.627G>C (p.Glu209Asp) n.2059G>C n.2226G>C c.1974G>C (p.Glu658Asp) c.666G>C (p.Glu222Asp) n.2276G>C n.2249G>C | |
8 | g.141168380G>T | CA372344283 | DENND3 | c.2130G>T (p.Glu710Asp) c.1890G>T (p.Glu630Asp) c.1734G>T (p.Glu578Asp) c.1903G>T n.1671G>T c.1929G>T (p.Glu643Asp) c.1773G>T (p.Glu591Asp) c.1896G>T (p.Glu632Asp) c.1386G>T (p.Glu462Asp) c.1563G>T (p.Glu521Asp) c.1557G>T (p.Glu519Asp) c.1098G>T (p.Glu366Asp) c.627G>T (p.Glu209Asp) n.2059G>T n.2226G>T c.1974G>T (p.Glu658Asp) c.666G>T (p.Glu222Asp) n.2276G>T n.2249G>T | |
8 | g.141168381G>A | CA372344284 | DENND3 | c.2131G>A (p.Ala711Thr) c.1891G>A (p.Ala631Thr) c.1735G>A (p.Ala579Thr) c.1904G>A n.1672G>A c.1930G>A (p.Ala644Thr) c.1774G>A (p.Ala592Thr) c.1897G>A (p.Ala633Thr) c.1387G>A (p.Ala463Thr) c.1564G>A (p.Ala522Thr) c.1558G>A (p.Ala520Thr) c.1099G>A (p.Ala367Thr) c.628G>A (p.Ala210Thr) n.2060G>A n.2227G>A c.1975G>A (p.Ala659Thr) c.667G>A (p.Ala223Thr) n.2277G>A n.2250G>A | |
8 | g.141168381G>C | CA372344285 | DENND3 | c.2131G>C (p.Ala711Pro) c.1891G>C (p.Ala631Pro) c.1735G>C (p.Ala579Pro) c.1904G>C n.1672G>C c.1930G>C (p.Ala644Pro) c.1774G>C (p.Ala592Pro) c.1897G>C (p.Ala633Pro) c.1387G>C (p.Ala463Pro) c.1564G>C (p.Ala522Pro) c.1558G>C (p.Ala520Pro) c.1099G>C (p.Ala367Pro) c.628G>C (p.Ala210Pro) n.2060G>C n.2227G>C c.1975G>C (p.Ala659Pro) c.667G>C (p.Ala223Pro) n.2277G>C n.2250G>C | |
8 | g.141168381G>T | CA372344286 | DENND3 | c.2131G>T (p.Ala711Ser) c.1891G>T (p.Ala631Ser) c.1735G>T (p.Ala579Ser) c.1904G>T n.1672G>T c.1930G>T (p.Ala644Ser) c.1774G>T (p.Ala592Ser) c.1897G>T (p.Ala633Ser) c.1387G>T (p.Ala463Ser) c.1564G>T (p.Ala522Ser) c.1558G>T (p.Ala520Ser) c.1099G>T (p.Ala367Ser) c.628G>T (p.Ala210Ser) n.2060G>T n.2227G>T c.1975G>T (p.Ala659Ser) c.667G>T (p.Ala223Ser) n.2277G>T n.2250G>T | |
8 | g.141168382C>A | CA372344289 | DENND3 | c.2132C>A (p.Ala711Asp) c.1892C>A (p.Ala631Asp) c.1736C>A (p.Ala579Asp) c.1905C>A n.1673C>A c.1931C>A (p.Ala644Asp) c.1775C>A (p.Ala592Asp) c.1898C>A (p.Ala633Asp) c.1388C>A (p.Ala463Asp) c.1565C>A (p.Ala522Asp) c.1559C>A (p.Ala520Asp) c.1100C>A (p.Ala367Asp) c.629C>A (p.Ala210Asp) n.2061C>A n.2228C>A c.1976C>A (p.Ala659Asp) c.668C>A (p.Ala223Asp) n.2278C>A n.2251C>A | |
8 | g.141168382C>G | CA372344288 | DENND3 | c.2132C>G (p.Ala711Gly) c.1892C>G (p.Ala631Gly) c.1736C>G (p.Ala579Gly) c.1905C>G n.1673C>G c.1931C>G (p.Ala644Gly) c.1775C>G (p.Ala592Gly) c.1898C>G (p.Ala633Gly) c.1388C>G (p.Ala463Gly) c.1565C>G (p.Ala522Gly) c.1559C>G (p.Ala520Gly) c.1100C>G (p.Ala367Gly) c.629C>G (p.Ala210Gly) n.2061C>G n.2228C>G c.1976C>G (p.Ala659Gly) c.668C>G (p.Ala223Gly) n.2278C>G n.2251C>G | |
8 | g.141168382C>T | CA372344287 | DENND3 | c.2132C>T (p.Ala711Val) c.1892C>T (p.Ala631Val) c.1736C>T (p.Ala579Val) c.1905C>T n.1673C>T c.1931C>T (p.Ala644Val) c.1775C>T (p.Ala592Val) c.1898C>T (p.Ala633Val) c.1388C>T (p.Ala463Val) c.1565C>T (p.Ala522Val) c.1559C>T (p.Ala520Val) c.1100C>T (p.Ala367Val) c.629C>T (p.Ala210Val) n.2061C>T n.2228C>T c.1976C>T (p.Ala659Val) c.668C>T (p.Ala223Val) n.2278C>T n.2251C>T | |
8 | g.141168383C>A | CA463496973 | DENND3 | c.2133C>A (p.Ala711=) c.1893C>A (p.Ala631=) c.1737C>A (p.Ala579=) c.1906C>A n.1674C>A c.1932C>A (p.Ala644=) c.1776C>A (p.Ala592=) c.1899C>A (p.Ala633=) c.1389C>A (p.Ala463=) c.1566C>A (p.Ala522=) c.1560C>A (p.Ala520=) c.1101C>A (p.Ala367=) c.630C>A (p.Ala210=) n.2062C>A n.2229C>A c.1977C>A (p.Ala659=) c.669C>A (p.Ala223=) n.2279C>A n.2252C>A | |
8 | g.141168383C>G | CA463496974 | DENND3 | c.2133C>G (p.Ala711=) c.1893C>G (p.Ala631=) c.1737C>G (p.Ala579=) c.1906C>G n.1674C>G c.1932C>G (p.Ala644=) c.1776C>G (p.Ala592=) c.1899C>G (p.Ala633=) c.1389C>G (p.Ala463=) c.1566C>G (p.Ala522=) c.1560C>G (p.Ala520=) c.1101C>G (p.Ala367=) c.630C>G (p.Ala210=) n.2062C>G n.2229C>G c.1977C>G (p.Ala659=) c.669C>G (p.Ala223=) n.2279C>G n.2252C>G | dbSNP gnomAD v4 |
8 | g.141168383C>T | CA463496975 | DENND3 | c.2133C>T (p.Ala711=) c.1893C>T (p.Ala631=) c.1737C>T (p.Ala579=) c.1906C>T n.1674C>T c.1932C>T (p.Ala644=) c.1776C>T (p.Ala592=) c.1899C>T (p.Ala633=) c.1389C>T (p.Ala463=) c.1566C>T (p.Ala522=) c.1560C>T (p.Ala520=) c.1101C>T (p.Ala367=) c.630C>T (p.Ala210=) n.2062C>T n.2229C>T c.1977C>T (p.Ala659=) c.669C>T (p.Ala223=) n.2279C>T n.2252C>T | |
8 | g.141168384T>A | CA372344290 | DENND3 | c.2134T>A (p.Ser712Thr) c.1894T>A (p.Ser632Thr) c.1738T>A (p.Ser580Thr) c.1907T>A n.1675T>A c.1933T>A (p.Ser645Thr) c.1777T>A (p.Ser593Thr) c.1900T>A (p.Ser634Thr) c.1390T>A (p.Ser464Thr) c.1567T>A (p.Ser523Thr) c.1561T>A (p.Ser521Thr) c.1102T>A (p.Ser368Thr) c.631T>A (p.Ser211Thr) n.2063T>A n.2230T>A c.1978T>A (p.Ser660Thr) c.670T>A (p.Ser224Thr) n.2280T>A n.2253T>A | |
8 | g.141168384T>C | CA372344291 | DENND3 | c.2134T>C (p.Ser712Pro) c.1894T>C (p.Ser632Pro) c.1738T>C (p.Ser580Pro) c.1907T>C n.1675T>C c.1933T>C (p.Ser645Pro) c.1777T>C (p.Ser593Pro) c.1900T>C (p.Ser634Pro) c.1390T>C (p.Ser464Pro) c.1567T>C (p.Ser523Pro) c.1561T>C (p.Ser521Pro) c.1102T>C (p.Ser368Pro) c.631T>C (p.Ser211Pro) n.2063T>C n.2230T>C c.1978T>C (p.Ser660Pro) c.670T>C (p.Ser224Pro) n.2280T>C n.2253T>C | |
8 | g.141168384T>G | CA372344292 | DENND3 | c.2134T>G (p.Ser712Ala) c.1894T>G (p.Ser632Ala) c.1738T>G (p.Ser580Ala) c.1907T>G n.1675T>G c.1933T>G (p.Ser645Ala) c.1777T>G (p.Ser593Ala) c.1900T>G (p.Ser634Ala) c.1390T>G (p.Ser464Ala) c.1567T>G (p.Ser523Ala) c.1561T>G (p.Ser521Ala) c.1102T>G (p.Ser368Ala) c.631T>G (p.Ser211Ala) n.2063T>G n.2230T>G c.1978T>G (p.Ser660Ala) c.670T>G (p.Ser224Ala) n.2280T>G n.2253T>G | |
8 | g.141168385C>A | CA372344293 | DENND3 | c.2135C>A (p.Ser712Ter) c.1895C>A (p.Ser632Ter) c.1739C>A (p.Ser580Ter) c.1908C>A n.1676C>A c.1934C>A (p.Ser645Ter) c.1778C>A (p.Ser593Ter) c.1901C>A (p.Ser634Ter) c.1391C>A (p.Ser464Ter) c.1568C>A (p.Ser523Ter) c.1562C>A (p.Ser521Ter) c.1103C>A (p.Ser368Ter) c.632C>A (p.Ser211Ter) n.2064C>A n.2231C>A c.1979C>A (p.Ser660Ter) c.671C>A (p.Ser224Ter) n.2281C>A n.2254C>A | |
8 | g.141168385C>G | CA372344294 | DENND3 | c.2135C>G (p.Ser712Trp) c.1895C>G (p.Ser632Trp) c.1739C>G (p.Ser580Trp) c.1908C>G n.1676C>G c.1934C>G (p.Ser645Trp) c.1778C>G (p.Ser593Trp) c.1901C>G (p.Ser634Trp) c.1391C>G (p.Ser464Trp) c.1568C>G (p.Ser523Trp) c.1562C>G (p.Ser521Trp) c.1103C>G (p.Ser368Trp) c.632C>G (p.Ser211Trp) n.2064C>G n.2231C>G c.1979C>G (p.Ser660Trp) c.671C>G (p.Ser224Trp) n.2281C>G n.2254C>G | |
8 | g.141168385C>T | CA187325801 | DENND3 | c.2135C>T (p.Ser712Leu) c.1895C>T (p.Ser632Leu) c.1739C>T (p.Ser580Leu) c.1908C>T n.1676C>T c.1934C>T (p.Ser645Leu) c.1778C>T (p.Ser593Leu) c.1901C>T (p.Ser634Leu) c.1391C>T (p.Ser464Leu) c.1568C>T (p.Ser523Leu) c.1562C>T (p.Ser521Leu) c.1103C>T (p.Ser368Leu) c.632C>T (p.Ser211Leu) n.2064C>T n.2231C>T c.1979C>T (p.Ser660Leu) c.671C>T (p.Ser224Leu) n.2281C>T n.2254C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168386G>A | CA4896812 | DENND3 | c.2136G>A (p.Ser712=) c.1896G>A (p.Ser632=) c.1740G>A (p.Ser580=) c.1909G>A n.1677G>A c.1935G>A (p.Ser645=) c.1779G>A (p.Ser593=) c.1902G>A (p.Ser634=) c.1392G>A (p.Ser464=) c.1569G>A (p.Ser523=) c.1563G>A (p.Ser521=) c.1104G>A (p.Ser368=) c.633G>A (p.Ser211=) n.2065G>A n.2232G>A c.1980G>A (p.Ser660=) c.672G>A (p.Ser224=) n.2282G>A n.2255G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168386G>C | CA463496976 | DENND3 | c.2136G>C (p.Ser712=) c.1896G>C (p.Ser632=) c.1740G>C (p.Ser580=) c.1909G>C n.1677G>C c.1935G>C (p.Ser645=) c.1779G>C (p.Ser593=) c.1902G>C (p.Ser634=) c.1392G>C (p.Ser464=) c.1569G>C (p.Ser523=) c.1563G>C (p.Ser521=) c.1104G>C (p.Ser368=) c.633G>C (p.Ser211=) n.2065G>C n.2232G>C c.1980G>C (p.Ser660=) c.672G>C (p.Ser224=) n.2282G>C n.2255G>C | gnomAD v4 |
8 | g.141168386G>T | CA463496977 | DENND3 | c.2136G>T (p.Ser712=) c.1896G>T (p.Ser632=) c.1740G>T (p.Ser580=) c.1909G>T n.1677G>T c.1935G>T (p.Ser645=) c.1779G>T (p.Ser593=) c.1902G>T (p.Ser634=) c.1392G>T (p.Ser464=) c.1569G>T (p.Ser523=) c.1563G>T (p.Ser521=) c.1104G>T (p.Ser368=) c.633G>T (p.Ser211=) n.2065G>T n.2232G>T c.1980G>T (p.Ser660=) c.672G>T (p.Ser224=) n.2282G>T n.2255G>T | |
8 | g.141168387A>C | CA372344295 | DENND3 | c.2137A>C (p.Lys713Gln) c.1897A>C (p.Lys633Gln) c.1741A>C (p.Lys581Gln) c.1910A>C n.1678A>C c.1936A>C (p.Lys646Gln) c.1780A>C (p.Lys594Gln) c.1903A>C (p.Lys635Gln) c.1393A>C (p.Lys465Gln) c.1570A>C (p.Lys524Gln) c.1564A>C (p.Lys522Gln) c.1105A>C (p.Lys369Gln) c.634A>C (p.Lys212Gln) n.2066A>C n.2233A>C c.1981A>C (p.Lys661Gln) c.673A>C (p.Lys225Gln) n.2283A>C n.2256A>C | |
8 | g.141168387A>G | CA372344296 | DENND3 | c.2137A>G (p.Lys713Glu) c.1897A>G (p.Lys633Glu) c.1741A>G (p.Lys581Glu) c.1910A>G n.1678A>G c.1936A>G (p.Lys646Glu) c.1780A>G (p.Lys594Glu) c.1903A>G (p.Lys635Glu) c.1393A>G (p.Lys465Glu) c.1570A>G (p.Lys524Glu) c.1564A>G (p.Lys522Glu) c.1105A>G (p.Lys369Glu) c.634A>G (p.Lys212Glu) n.2066A>G n.2233A>G c.1981A>G (p.Lys661Glu) c.673A>G (p.Lys225Glu) n.2283A>G n.2256A>G | |
8 | g.141168387A>T | CA372344297 | DENND3 | c.2137A>T (p.Lys713Ter) c.1897A>T (p.Lys633Ter) c.1741A>T (p.Lys581Ter) c.1910A>T n.1678A>T c.1936A>T (p.Lys646Ter) c.1780A>T (p.Lys594Ter) c.1903A>T (p.Lys635Ter) c.1393A>T (p.Lys465Ter) c.1570A>T (p.Lys524Ter) c.1564A>T (p.Lys522Ter) c.1105A>T (p.Lys369Ter) c.634A>T (p.Lys212Ter) n.2066A>T n.2233A>T c.1981A>T (p.Lys661Ter) c.673A>T (p.Lys225Ter) n.2283A>T n.2256A>T | |
8 | g.141168393_141168419del | CA2688780424 | DENND3 | c.2143_2169del (p.Asp715_Leu723del) c.1903_1929del (p.Asp635_Leu643del) c.1747_1773del (p.Asp583_Leu591del) c.1916_1942del n.1684_1710del c.1942_1968del (p.Asp648_Leu656del) c.1786_1812del (p.Asp596_Leu604del) c.1909_1935del (p.Asp637_Leu645del) c.1399_1425del (p.Asp467_Leu475del) c.1576_1602del (p.Asp526_Leu534del) c.1570_1596del (p.Asp524_Leu532del) c.1111_1137del (p.Asp371_Leu379del) c.640_666del (p.Asp214_Leu222del) n.2072_2098del n.2239_2265del c.1987_2013del (p.Asp663_Leu671del) c.679_705del (p.Asp227_Leu235del) n.2289_2315del n.2262_2288del | gnomAD v4 |
8 | g.141168388A>C | CA372344298 | DENND3 | c.2138A>C (p.Lys713Thr) c.1898A>C (p.Lys633Thr) c.1742A>C (p.Lys581Thr) c.1911A>C n.1679A>C c.1937A>C (p.Lys646Thr) c.1781A>C (p.Lys594Thr) c.1904A>C (p.Lys635Thr) c.1394A>C (p.Lys465Thr) c.1571A>C (p.Lys524Thr) c.1565A>C (p.Lys522Thr) c.1106A>C (p.Lys369Thr) c.635A>C (p.Lys212Thr) n.2067A>C n.2234A>C c.1982A>C (p.Lys661Thr) c.674A>C (p.Lys225Thr) n.2284A>C n.2257A>C | |
8 | g.141168388A>G | CA372344299 | DENND3 | c.2138A>G (p.Lys713Arg) c.1898A>G (p.Lys633Arg) c.1742A>G (p.Lys581Arg) c.1911A>G n.1679A>G c.1937A>G (p.Lys646Arg) c.1781A>G (p.Lys594Arg) c.1904A>G (p.Lys635Arg) c.1394A>G (p.Lys465Arg) c.1571A>G (p.Lys524Arg) c.1565A>G (p.Lys522Arg) c.1106A>G (p.Lys369Arg) c.635A>G (p.Lys212Arg) n.2067A>G n.2234A>G c.1982A>G (p.Lys661Arg) c.674A>G (p.Lys225Arg) n.2284A>G n.2257A>G | dbSNP |
8 | g.141168388A>T | CA372344300 | DENND3 | c.2138A>T (p.Lys713Met) c.1898A>T (p.Lys633Met) c.1742A>T (p.Lys581Met) c.1911A>T n.1679A>T c.1937A>T (p.Lys646Met) c.1781A>T (p.Lys594Met) c.1904A>T (p.Lys635Met) c.1394A>T (p.Lys465Met) c.1571A>T (p.Lys524Met) c.1565A>T (p.Lys522Met) c.1106A>T (p.Lys369Met) c.635A>T (p.Lys212Met) n.2067A>T n.2234A>T c.1982A>T (p.Lys661Met) c.674A>T (p.Lys225Met) n.2284A>T n.2257A>T | |
8 | g.141168389G>A | CA463496978 | DENND3 | c.2139G>A (p.Lys713=) c.1899G>A (p.Lys633=) c.1743G>A (p.Lys581=) c.1912G>A n.1680G>A c.1938G>A (p.Lys646=) c.1782G>A (p.Lys594=) c.1905G>A (p.Lys635=) c.1395G>A (p.Lys465=) c.1572G>A (p.Lys524=) c.1566G>A (p.Lys522=) c.1107G>A (p.Lys369=) c.636G>A (p.Lys212=) n.2068G>A n.2235G>A c.1983G>A (p.Lys661=) c.675G>A (p.Lys225=) n.2285G>A n.2258G>A | dbSNP |
8 | g.141168389G>C | CA372344301 | DENND3 | c.2139G>C (p.Lys713Asn) c.1899G>C (p.Lys633Asn) c.1743G>C (p.Lys581Asn) c.1912G>C n.1680G>C c.1938G>C (p.Lys646Asn) c.1782G>C (p.Lys594Asn) c.1905G>C (p.Lys635Asn) c.1395G>C (p.Lys465Asn) c.1572G>C (p.Lys524Asn) c.1566G>C (p.Lys522Asn) c.1107G>C (p.Lys369Asn) c.636G>C (p.Lys212Asn) n.2068G>C n.2235G>C c.1983G>C (p.Lys661Asn) c.675G>C (p.Lys225Asn) n.2285G>C n.2258G>C | |
8 | g.141168389G>T | CA372344302 | DENND3 | c.2139G>T (p.Lys713Asn) c.1899G>T (p.Lys633Asn) c.1743G>T (p.Lys581Asn) c.1912G>T n.1680G>T c.1938G>T (p.Lys646Asn) c.1782G>T (p.Lys594Asn) c.1905G>T (p.Lys635Asn) c.1395G>T (p.Lys465Asn) c.1572G>T (p.Lys524Asn) c.1566G>T (p.Lys522Asn) c.1107G>T (p.Lys369Asn) c.636G>T (p.Lys212Asn) n.2068G>T n.2235G>T c.1983G>T (p.Lys661Asn) c.675G>T (p.Lys225Asn) n.2285G>T n.2258G>T | |
8 | g.141168390C>A | CA372344303 | DENND3 | c.2140C>A (p.Leu714Met) c.1900C>A (p.Leu634Met) c.1744C>A (p.Leu582Met) c.1913C>A n.1681C>A c.1939C>A (p.Leu647Met) c.1783C>A (p.Leu595Met) c.1906C>A (p.Leu636Met) c.1396C>A (p.Leu466Met) c.1573C>A (p.Leu525Met) c.1567C>A (p.Leu523Met) c.1108C>A (p.Leu370Met) c.637C>A (p.Leu213Met) n.2069C>A n.2236C>A c.1984C>A (p.Leu662Met) c.676C>A (p.Leu226Met) n.2286C>A n.2259C>A | |
8 | g.141168390C>G | CA372344304 | DENND3 | c.2140C>G (p.Leu714Val) c.1900C>G (p.Leu634Val) c.1744C>G (p.Leu582Val) c.1913C>G n.1681C>G c.1939C>G (p.Leu647Val) c.1783C>G (p.Leu595Val) c.1906C>G (p.Leu636Val) c.1396C>G (p.Leu466Val) c.1573C>G (p.Leu525Val) c.1567C>G (p.Leu523Val) c.1108C>G (p.Leu370Val) c.637C>G (p.Leu213Val) n.2069C>G n.2236C>G c.1984C>G (p.Leu662Val) c.676C>G (p.Leu226Val) n.2286C>G n.2259C>G | |
8 | g.141168390C>T | CA463496979 | DENND3 | c.2140C>T (p.Leu714=) c.1900C>T (p.Leu634=) c.1744C>T (p.Leu582=) c.1913C>T n.1681C>T c.1939C>T (p.Leu647=) c.1783C>T (p.Leu595=) c.1906C>T (p.Leu636=) c.1396C>T (p.Leu466=) c.1573C>T (p.Leu525=) c.1567C>T (p.Leu523=) c.1108C>T (p.Leu370=) c.637C>T (p.Leu213=) n.2069C>T n.2236C>T c.1984C>T (p.Leu662=) c.676C>T (p.Leu226=) n.2286C>T n.2259C>T | |
8 | g.141168391T>A | CA372344305 | DENND3 | c.2141T>A (p.Leu714Gln) c.1901T>A (p.Leu634Gln) c.1745T>A (p.Leu582Gln) c.1914T>A n.1682T>A c.1940T>A (p.Leu647Gln) c.1784T>A (p.Leu595Gln) c.1907T>A (p.Leu636Gln) c.1397T>A (p.Leu466Gln) c.1574T>A (p.Leu525Gln) c.1568T>A (p.Leu523Gln) c.1109T>A (p.Leu370Gln) c.638T>A (p.Leu213Gln) n.2070T>A n.2237T>A c.1985T>A (p.Leu662Gln) c.677T>A (p.Leu226Gln) n.2287T>A n.2260T>A | |
8 | g.141168391T>C | CA372344306 | DENND3 | c.2141T>C (p.Leu714Pro) c.1901T>C (p.Leu634Pro) c.1745T>C (p.Leu582Pro) c.1914T>C n.1682T>C c.1940T>C (p.Leu647Pro) c.1784T>C (p.Leu595Pro) c.1907T>C (p.Leu636Pro) c.1397T>C (p.Leu466Pro) c.1574T>C (p.Leu525Pro) c.1568T>C (p.Leu523Pro) c.1109T>C (p.Leu370Pro) c.638T>C (p.Leu213Pro) n.2070T>C n.2237T>C c.1985T>C (p.Leu662Pro) c.677T>C (p.Leu226Pro) n.2287T>C n.2260T>C | |
8 | g.141168391T>G | CA372344307 | DENND3 | c.2141T>G (p.Leu714Arg) c.1901T>G (p.Leu634Arg) c.1745T>G (p.Leu582Arg) c.1914T>G n.1682T>G c.1940T>G (p.Leu647Arg) c.1784T>G (p.Leu595Arg) c.1907T>G (p.Leu636Arg) c.1397T>G (p.Leu466Arg) c.1574T>G (p.Leu525Arg) c.1568T>G (p.Leu523Arg) c.1109T>G (p.Leu370Arg) c.638T>G (p.Leu213Arg) n.2070T>G n.2237T>G c.1985T>G (p.Leu662Arg) c.677T>G (p.Leu226Arg) n.2287T>G n.2260T>G | gnomAD v4 |