Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.141168251C>A | CA372343997 | DENND3 | c.2001C>A (p.Asp667Glu) c.1761C>A (p.Asp587Glu) c.1605C>A (p.Asp535Glu) c.1774C>A n.1542C>A c.1800C>A (p.Asp600Glu) c.1644C>A (p.Asp548Glu) c.1767C>A (p.Asp589Glu) c.1257C>A (p.Asp419Glu) c.1434C>A (p.Asp478Glu) c.1428C>A (p.Asp476Glu) c.969C>A (p.Asp323Glu) c.498C>A (p.Asp166Glu) n.1930C>A n.2097C>A c.1845C>A (p.Asp615Glu) c.537C>A (p.Asp179Glu) n.2147C>A n.2120C>A | |
8 | g.141168251C>G | CA372343998 | DENND3 | c.2001C>G (p.Asp667Glu) c.1761C>G (p.Asp587Glu) c.1605C>G (p.Asp535Glu) c.1774C>G n.1542C>G c.1800C>G (p.Asp600Glu) c.1644C>G (p.Asp548Glu) c.1767C>G (p.Asp589Glu) c.1257C>G (p.Asp419Glu) c.1434C>G (p.Asp478Glu) c.1428C>G (p.Asp476Glu) c.969C>G (p.Asp323Glu) c.498C>G (p.Asp166Glu) n.1930C>G n.2097C>G c.1845C>G (p.Asp615Glu) c.537C>G (p.Asp179Glu) n.2147C>G n.2120C>G | |
8 | g.141168251C>T | CA4896788 | DENND3 | c.2001C>T (p.Asp667=) c.1761C>T (p.Asp587=) c.1605C>T (p.Asp535=) c.1774C>T n.1542C>T c.1800C>T (p.Asp600=) c.1644C>T (p.Asp548=) c.1767C>T (p.Asp589=) c.1257C>T (p.Asp419=) c.1434C>T (p.Asp478=) c.1428C>T (p.Asp476=) c.969C>T (p.Asp323=) c.498C>T (p.Asp166=) n.1930C>T n.2097C>T c.1845C>T (p.Asp615=) c.537C>T (p.Asp179=) n.2147C>T n.2120C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168252A>C | CA372343999 | DENND3 | c.2002A>C (p.Ile668Leu) c.1762A>C (p.Ile588Leu) c.1606A>C (p.Ile536Leu) c.1775A>C n.1543A>C c.1801A>C (p.Ile601Leu) c.1645A>C (p.Ile549Leu) c.1768A>C (p.Ile590Leu) c.1258A>C (p.Ile420Leu) c.1435A>C (p.Ile479Leu) c.1429A>C (p.Ile477Leu) c.970A>C (p.Ile324Leu) c.499A>C (p.Ile167Leu) n.1931A>C n.2098A>C c.1846A>C (p.Ile616Leu) c.538A>C (p.Ile180Leu) n.2148A>C n.2121A>C | gnomAD v4 |
8 | g.141168252A>G | CA372344000 | DENND3 | c.2002A>G (p.Ile668Val) c.1762A>G (p.Ile588Val) c.1606A>G (p.Ile536Val) c.1775A>G n.1543A>G c.1801A>G (p.Ile601Val) c.1645A>G (p.Ile549Val) c.1768A>G (p.Ile590Val) c.1258A>G (p.Ile420Val) c.1435A>G (p.Ile479Val) c.1429A>G (p.Ile477Val) c.970A>G (p.Ile324Val) c.499A>G (p.Ile167Val) n.1931A>G n.2098A>G c.1846A>G (p.Ile616Val) c.538A>G (p.Ile180Val) n.2148A>G n.2121A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168252A>T | CA372344001 | DENND3 | c.2002A>T (p.Ile668Leu) c.1762A>T (p.Ile588Leu) c.1606A>T (p.Ile536Leu) c.1775A>T n.1543A>T c.1801A>T (p.Ile601Leu) c.1645A>T (p.Ile549Leu) c.1768A>T (p.Ile590Leu) c.1258A>T (p.Ile420Leu) c.1435A>T (p.Ile479Leu) c.1429A>T (p.Ile477Leu) c.970A>T (p.Ile324Leu) c.499A>T (p.Ile167Leu) n.1931A>T n.2098A>T c.1846A>T (p.Ile616Leu) c.538A>T (p.Ile180Leu) n.2148A>T n.2121A>T | |
8 | g.141168253T>A | CA372344002 | DENND3 | c.2003T>A (p.Ile668Lys) c.1763T>A (p.Ile588Lys) c.1607T>A (p.Ile536Lys) c.1776T>A n.1544T>A c.1802T>A (p.Ile601Lys) c.1646T>A (p.Ile549Lys) c.1769T>A (p.Ile590Lys) c.1259T>A (p.Ile420Lys) c.1436T>A (p.Ile479Lys) c.1430T>A (p.Ile477Lys) c.971T>A (p.Ile324Lys) c.500T>A (p.Ile167Lys) n.1932T>A n.2099T>A c.1847T>A (p.Ile616Lys) c.539T>A (p.Ile180Lys) n.2149T>A n.2122T>A | |
8 | g.141168253T>C | CA372344004 | DENND3 | c.2003T>C (p.Ile668Thr) c.1763T>C (p.Ile588Thr) c.1607T>C (p.Ile536Thr) c.1776T>C n.1544T>C c.1802T>C (p.Ile601Thr) c.1646T>C (p.Ile549Thr) c.1769T>C (p.Ile590Thr) c.1259T>C (p.Ile420Thr) c.1436T>C (p.Ile479Thr) c.1430T>C (p.Ile477Thr) c.971T>C (p.Ile324Thr) c.500T>C (p.Ile167Thr) n.1932T>C n.2099T>C c.1847T>C (p.Ile616Thr) c.539T>C (p.Ile180Thr) n.2149T>C n.2122T>C | gnomAD v4 |
8 | g.141168253T>G | CA372344003 | DENND3 | c.2003T>G (p.Ile668Arg) c.1763T>G (p.Ile588Arg) c.1607T>G (p.Ile536Arg) c.1776T>G n.1544T>G c.1802T>G (p.Ile601Arg) c.1646T>G (p.Ile549Arg) c.1769T>G (p.Ile590Arg) c.1259T>G (p.Ile420Arg) c.1436T>G (p.Ile479Arg) c.1430T>G (p.Ile477Arg) c.971T>G (p.Ile324Arg) c.500T>G (p.Ile167Arg) n.1932T>G n.2099T>G c.1847T>G (p.Ile616Arg) c.539T>G (p.Ile180Arg) n.2149T>G n.2122T>G | |
8 | g.141168254A>C | CA463493712 | DENND3 | c.2004A>C (p.Ile668=) c.1764A>C (p.Ile588=) c.1608A>C (p.Ile536=) c.1777A>C n.1545A>C c.1803A>C (p.Ile601=) c.1647A>C (p.Ile549=) c.1770A>C (p.Ile590=) c.1260A>C (p.Ile420=) c.1437A>C (p.Ile479=) c.1431A>C (p.Ile477=) c.972A>C (p.Ile324=) c.501A>C (p.Ile167=) n.1933A>C n.2100A>C c.1848A>C (p.Ile616=) c.540A>C (p.Ile180=) n.2150A>C n.2123A>C | |
8 | g.141168254A>G | CA372344005 | DENND3 | c.2004A>G (p.Ile668Met) c.1764A>G (p.Ile588Met) c.1608A>G (p.Ile536Met) c.1777A>G n.1545A>G c.1803A>G (p.Ile601Met) c.1647A>G (p.Ile549Met) c.1770A>G (p.Ile590Met) c.1260A>G (p.Ile420Met) c.1437A>G (p.Ile479Met) c.1431A>G (p.Ile477Met) c.972A>G (p.Ile324Met) c.501A>G (p.Ile167Met) n.1933A>G n.2100A>G c.1848A>G (p.Ile616Met) c.540A>G (p.Ile180Met) n.2150A>G n.2123A>G | |
8 | g.141168254A>T | CA463493717 | DENND3 | c.2004A>T (p.Ile668=) c.1764A>T (p.Ile588=) c.1608A>T (p.Ile536=) c.1777A>T n.1545A>T c.1803A>T (p.Ile601=) c.1647A>T (p.Ile549=) c.1770A>T (p.Ile590=) c.1260A>T (p.Ile420=) c.1437A>T (p.Ile479=) c.1431A>T (p.Ile477=) c.972A>T (p.Ile324=) c.501A>T (p.Ile167=) n.1933A>T n.2100A>T c.1848A>T (p.Ile616=) c.540A>T (p.Ile180=) n.2150A>T n.2123A>T | dbSNP |
8 | g.141168255C>A | CA463493722 | DENND3 | c.2005C>A (p.Arg669=) c.1765C>A (p.Arg589=) c.1609C>A (p.Arg537=) c.1778C>A n.1546C>A c.1804C>A (p.Arg602=) c.1648C>A (p.Arg550=) c.1771C>A (p.Arg591=) c.1261C>A (p.Arg421=) c.1438C>A (p.Arg480=) c.1432C>A (p.Arg478=) c.973C>A (p.Arg325=) c.502C>A (p.Arg168=) n.1934C>A n.2101C>A c.1849C>A (p.Arg617=) c.541C>A (p.Arg181=) n.2151C>A n.2124C>A | COSMIC |
8 | g.141168255C>G | CA372344006 | DENND3 | c.2005C>G (p.Arg669Gly) c.1765C>G (p.Arg589Gly) c.1609C>G (p.Arg537Gly) c.1778C>G n.1546C>G c.1804C>G (p.Arg602Gly) c.1648C>G (p.Arg550Gly) c.1771C>G (p.Arg591Gly) c.1261C>G (p.Arg421Gly) c.1438C>G (p.Arg480Gly) c.1432C>G (p.Arg478Gly) c.973C>G (p.Arg325Gly) c.502C>G (p.Arg168Gly) n.1934C>G n.2101C>G c.1849C>G (p.Arg617Gly) c.541C>G (p.Arg181Gly) n.2151C>G n.2124C>G | |
8 | g.141168255C>T | CA372344007 | DENND3 | c.2005C>T (p.Arg669Trp) c.1765C>T (p.Arg589Trp) c.1609C>T (p.Arg537Trp) c.1778C>T n.1546C>T c.1804C>T (p.Arg602Trp) c.1648C>T (p.Arg550Trp) c.1771C>T (p.Arg591Trp) c.1261C>T (p.Arg421Trp) c.1438C>T (p.Arg480Trp) c.1432C>T (p.Arg478Trp) c.973C>T (p.Arg325Trp) c.502C>T (p.Arg168Trp) n.1934C>T n.2101C>T c.1849C>T (p.Arg617Trp) c.541C>T (p.Arg181Trp) n.2151C>T n.2124C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168256G>A | CA4896789 | DENND3 | c.2006G>A (p.Arg669Gln) c.1766G>A (p.Arg589Gln) c.1610G>A (p.Arg537Gln) c.1779G>A n.1547G>A c.1805G>A (p.Arg602Gln) c.1649G>A (p.Arg550Gln) c.1772G>A (p.Arg591Gln) c.1262G>A (p.Arg421Gln) c.1439G>A (p.Arg480Gln) c.1433G>A (p.Arg478Gln) c.974G>A (p.Arg325Gln) c.503G>A (p.Arg168Gln) n.1935G>A n.2102G>A c.1850G>A (p.Arg617Gln) c.542G>A (p.Arg181Gln) n.2152G>A n.2125G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168256G>C | CA372344008 | DENND3 | c.2006G>C (p.Arg669Pro) c.1766G>C (p.Arg589Pro) c.1610G>C (p.Arg537Pro) c.1779G>C n.1547G>C c.1805G>C (p.Arg602Pro) c.1649G>C (p.Arg550Pro) c.1772G>C (p.Arg591Pro) c.1262G>C (p.Arg421Pro) c.1439G>C (p.Arg480Pro) c.1433G>C (p.Arg478Pro) c.974G>C (p.Arg325Pro) c.503G>C (p.Arg168Pro) n.1935G>C n.2102G>C c.1850G>C (p.Arg617Pro) c.542G>C (p.Arg181Pro) n.2152G>C n.2125G>C | |
8 | g.141168256G>T | CA372344009 | DENND3 | c.2006G>T (p.Arg669Leu) c.1766G>T (p.Arg589Leu) c.1610G>T (p.Arg537Leu) c.1779G>T n.1547G>T c.1805G>T (p.Arg602Leu) c.1649G>T (p.Arg550Leu) c.1772G>T (p.Arg591Leu) c.1262G>T (p.Arg421Leu) c.1439G>T (p.Arg480Leu) c.1433G>T (p.Arg478Leu) c.974G>T (p.Arg325Leu) c.503G>T (p.Arg168Leu) n.1935G>T n.2102G>T c.1850G>T (p.Arg617Leu) c.542G>T (p.Arg181Leu) n.2152G>T n.2125G>T | |
8 | g.141168257G>A | CA463493727 | DENND3 | c.2007G>A (p.Arg669=) c.1767G>A (p.Arg589=) c.1611G>A (p.Arg537=) c.1780G>A n.1548G>A c.1806G>A (p.Arg602=) c.1650G>A (p.Arg550=) c.1773G>A (p.Arg591=) c.1263G>A (p.Arg421=) c.1440G>A (p.Arg480=) c.1434G>A (p.Arg478=) c.975G>A (p.Arg325=) c.504G>A (p.Arg168=) n.1936G>A n.2103G>A c.1851G>A (p.Arg617=) c.543G>A (p.Arg181=) n.2153G>A n.2126G>A | gnomAD v4 |
8 | g.141168257G>C | CA463493729 | DENND3 | c.2007G>C (p.Arg669=) c.1767G>C (p.Arg589=) c.1611G>C (p.Arg537=) c.1780G>C n.1548G>C c.1806G>C (p.Arg602=) c.1650G>C (p.Arg550=) c.1773G>C (p.Arg591=) c.1263G>C (p.Arg421=) c.1440G>C (p.Arg480=) c.1434G>C (p.Arg478=) c.975G>C (p.Arg325=) c.504G>C (p.Arg168=) n.1936G>C n.2103G>C c.1851G>C (p.Arg617=) c.543G>C (p.Arg181=) n.2153G>C n.2126G>C | |
8 | g.141168257G>T | CA463493731 | DENND3 | c.2007G>T (p.Arg669=) c.1767G>T (p.Arg589=) c.1611G>T (p.Arg537=) c.1780G>T n.1548G>T c.1806G>T (p.Arg602=) c.1650G>T (p.Arg550=) c.1773G>T (p.Arg591=) c.1263G>T (p.Arg421=) c.1440G>T (p.Arg480=) c.1434G>T (p.Arg478=) c.975G>T (p.Arg325=) c.504G>T (p.Arg168=) n.1936G>T n.2103G>T c.1851G>T (p.Arg617=) c.543G>T (p.Arg181=) n.2153G>T n.2126G>T | |
8 | g.141168258A>C | CA372344010 | DENND3 | c.2008A>C (p.Ile670Leu) c.1768A>C (p.Ile590Leu) c.1612A>C (p.Ile538Leu) c.1781A>C n.1549A>C c.1807A>C (p.Ile603Leu) c.1651A>C (p.Ile551Leu) c.1774A>C (p.Ile592Leu) c.1264A>C (p.Ile422Leu) c.1441A>C (p.Ile481Leu) c.1435A>C (p.Ile479Leu) c.976A>C (p.Ile326Leu) c.505A>C (p.Ile169Leu) n.1937A>C n.2104A>C c.1852A>C (p.Ile618Leu) c.544A>C (p.Ile182Leu) n.2154A>C n.2127A>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168258A>G | CA372344011 | DENND3 | c.2008A>G (p.Ile670Val) c.1768A>G (p.Ile590Val) c.1612A>G (p.Ile538Val) c.1781A>G n.1549A>G c.1807A>G (p.Ile603Val) c.1651A>G (p.Ile551Val) c.1774A>G (p.Ile592Val) c.1264A>G (p.Ile422Val) c.1441A>G (p.Ile481Val) c.1435A>G (p.Ile479Val) c.976A>G (p.Ile326Val) c.505A>G (p.Ile169Val) n.1937A>G n.2104A>G c.1852A>G (p.Ile618Val) c.544A>G (p.Ile182Val) n.2154A>G n.2127A>G | |
8 | g.141168258A>T | CA372344012 | DENND3 | c.2008A>T (p.Ile670Phe) c.1768A>T (p.Ile590Phe) c.1612A>T (p.Ile538Phe) c.1781A>T n.1549A>T c.1807A>T (p.Ile603Phe) c.1651A>T (p.Ile551Phe) c.1774A>T (p.Ile592Phe) c.1264A>T (p.Ile422Phe) c.1441A>T (p.Ile481Phe) c.1435A>T (p.Ile479Phe) c.976A>T (p.Ile326Phe) c.505A>T (p.Ile169Phe) n.1937A>T n.2104A>T c.1852A>T (p.Ile618Phe) c.544A>T (p.Ile182Phe) n.2154A>T n.2127A>T | |
8 | g.141168259T>A | CA372344013 | DENND3 | c.2009T>A (p.Ile670Asn) c.1769T>A (p.Ile590Asn) c.1613T>A (p.Ile538Asn) c.1782T>A n.1550T>A c.1808T>A (p.Ile603Asn) c.1652T>A (p.Ile551Asn) c.1775T>A (p.Ile592Asn) c.1265T>A (p.Ile422Asn) c.1442T>A (p.Ile481Asn) c.1436T>A (p.Ile479Asn) c.977T>A (p.Ile326Asn) c.506T>A (p.Ile169Asn) n.1938T>A n.2105T>A c.1853T>A (p.Ile618Asn) c.545T>A (p.Ile182Asn) n.2155T>A n.2128T>A | |
8 | g.141168259T>C | CA372344014 | DENND3 | c.2009T>C (p.Ile670Thr) c.1769T>C (p.Ile590Thr) c.1613T>C (p.Ile538Thr) c.1782T>C n.1550T>C c.1808T>C (p.Ile603Thr) c.1652T>C (p.Ile551Thr) c.1775T>C (p.Ile592Thr) c.1265T>C (p.Ile422Thr) c.1442T>C (p.Ile481Thr) c.1436T>C (p.Ile479Thr) c.977T>C (p.Ile326Thr) c.506T>C (p.Ile169Thr) n.1938T>C n.2105T>C c.1853T>C (p.Ile618Thr) c.545T>C (p.Ile182Thr) n.2155T>C n.2128T>C | |
8 | g.141168259T>G | CA372344015 | DENND3 | c.2009T>G (p.Ile670Ser) c.1769T>G (p.Ile590Ser) c.1613T>G (p.Ile538Ser) c.1782T>G n.1550T>G c.1808T>G (p.Ile603Ser) c.1652T>G (p.Ile551Ser) c.1775T>G (p.Ile592Ser) c.1265T>G (p.Ile422Ser) c.1442T>G (p.Ile481Ser) c.1436T>G (p.Ile479Ser) c.977T>G (p.Ile326Ser) c.506T>G (p.Ile169Ser) n.1938T>G n.2105T>G c.1853T>G (p.Ile618Ser) c.545T>G (p.Ile182Ser) n.2155T>G n.2128T>G | |
8 | g.141168260C>A | CA463493740 | DENND3 | c.2010C>A (p.Ile670=) c.1770C>A (p.Ile590=) c.1614C>A (p.Ile538=) c.1783C>A n.1551C>A c.1809C>A (p.Ile603=) c.1653C>A (p.Ile551=) c.1776C>A (p.Ile592=) c.1266C>A (p.Ile422=) c.1443C>A (p.Ile481=) c.1437C>A (p.Ile479=) c.978C>A (p.Ile326=) c.507C>A (p.Ile169=) n.1939C>A n.2106C>A c.1854C>A (p.Ile618=) c.546C>A (p.Ile182=) n.2156C>A n.2129C>A | |
8 | g.141168260C>G | CA372344016 | DENND3 | c.2010C>G (p.Ile670Met) c.1770C>G (p.Ile590Met) c.1614C>G (p.Ile538Met) c.1783C>G n.1551C>G c.1809C>G (p.Ile603Met) c.1653C>G (p.Ile551Met) c.1776C>G (p.Ile592Met) c.1266C>G (p.Ile422Met) c.1443C>G (p.Ile481Met) c.1437C>G (p.Ile479Met) c.978C>G (p.Ile326Met) c.507C>G (p.Ile169Met) n.1939C>G n.2106C>G c.1854C>G (p.Ile618Met) c.546C>G (p.Ile182Met) n.2156C>G n.2129C>G | |
8 | g.141168260C>T | CA187325740 | DENND3 | c.2010C>T (p.Ile670=) c.1770C>T (p.Ile590=) c.1614C>T (p.Ile538=) c.1783C>T n.1551C>T c.1809C>T (p.Ile603=) c.1653C>T (p.Ile551=) c.1776C>T (p.Ile592=) c.1266C>T (p.Ile422=) c.1443C>T (p.Ile481=) c.1437C>T (p.Ile479=) c.978C>T (p.Ile326=) c.507C>T (p.Ile169=) n.1939C>T n.2106C>T c.1854C>T (p.Ile618=) c.546C>T (p.Ile182=) n.2156C>T n.2129C>T | dbSNP gnomAD v4 |
8 | g.141168261T>A | CA372344017 | DENND3 | c.2011T>A (p.Phe671Ile) c.1771T>A (p.Phe591Ile) c.1615T>A (p.Phe539Ile) c.1784T>A n.1552T>A c.1810T>A (p.Phe604Ile) c.1654T>A (p.Phe552Ile) c.1777T>A (p.Phe593Ile) c.1267T>A (p.Phe423Ile) c.1444T>A (p.Phe482Ile) c.1438T>A (p.Phe480Ile) c.979T>A (p.Phe327Ile) c.508T>A (p.Phe170Ile) n.1940T>A n.2107T>A c.1855T>A (p.Phe619Ile) c.547T>A (p.Phe183Ile) n.2157T>A n.2130T>A | |
8 | g.141168261T>C | CA372344019 | DENND3 | c.2011T>C (p.Phe671Leu) c.1771T>C (p.Phe591Leu) c.1615T>C (p.Phe539Leu) c.1784T>C n.1552T>C c.1810T>C (p.Phe604Leu) c.1654T>C (p.Phe552Leu) c.1777T>C (p.Phe593Leu) c.1267T>C (p.Phe423Leu) c.1444T>C (p.Phe482Leu) c.1438T>C (p.Phe480Leu) c.979T>C (p.Phe327Leu) c.508T>C (p.Phe170Leu) n.1940T>C n.2107T>C c.1855T>C (p.Phe619Leu) c.547T>C (p.Phe183Leu) n.2157T>C n.2130T>C | |
8 | g.141168261T>G | CA372344018 | DENND3 | c.2011T>G (p.Phe671Val) c.1771T>G (p.Phe591Val) c.1615T>G (p.Phe539Val) c.1784T>G n.1552T>G c.1810T>G (p.Phe604Val) c.1654T>G (p.Phe552Val) c.1777T>G (p.Phe593Val) c.1267T>G (p.Phe423Val) c.1444T>G (p.Phe482Val) c.1438T>G (p.Phe480Val) c.979T>G (p.Phe327Val) c.508T>G (p.Phe170Val) n.1940T>G n.2107T>G c.1855T>G (p.Phe619Val) c.547T>G (p.Phe183Val) n.2157T>G n.2130T>G | gnomAD v4 |
8 | g.141168262T>A | CA372344020 | DENND3 | c.2012T>A (p.Phe671Tyr) c.1772T>A (p.Phe591Tyr) c.1616T>A (p.Phe539Tyr) c.1785T>A n.1553T>A c.1811T>A (p.Phe604Tyr) c.1655T>A (p.Phe552Tyr) c.1778T>A (p.Phe593Tyr) c.1268T>A (p.Phe423Tyr) c.1445T>A (p.Phe482Tyr) c.1439T>A (p.Phe480Tyr) c.980T>A (p.Phe327Tyr) c.509T>A (p.Phe170Tyr) n.1941T>A n.2108T>A c.1856T>A (p.Phe619Tyr) c.548T>A (p.Phe183Tyr) n.2158T>A n.2131T>A | |
8 | g.141168262T>C | CA372344022 | DENND3 | c.2012T>C (p.Phe671Ser) c.1772T>C (p.Phe591Ser) c.1616T>C (p.Phe539Ser) c.1785T>C n.1553T>C c.1811T>C (p.Phe604Ser) c.1655T>C (p.Phe552Ser) c.1778T>C (p.Phe593Ser) c.1268T>C (p.Phe423Ser) c.1445T>C (p.Phe482Ser) c.1439T>C (p.Phe480Ser) c.980T>C (p.Phe327Ser) c.509T>C (p.Phe170Ser) n.1941T>C n.2108T>C c.1856T>C (p.Phe619Ser) c.548T>C (p.Phe183Ser) n.2158T>C n.2131T>C | gnomAD v4 |
8 | g.141168262T>G | CA372344021 | DENND3 | c.2012T>G (p.Phe671Cys) c.1772T>G (p.Phe591Cys) c.1616T>G (p.Phe539Cys) c.1785T>G n.1553T>G c.1811T>G (p.Phe604Cys) c.1655T>G (p.Phe552Cys) c.1778T>G (p.Phe593Cys) c.1268T>G (p.Phe423Cys) c.1445T>G (p.Phe482Cys) c.1439T>G (p.Phe480Cys) c.980T>G (p.Phe327Cys) c.509T>G (p.Phe170Cys) n.1941T>G n.2108T>G c.1856T>G (p.Phe619Cys) c.548T>G (p.Phe183Cys) n.2158T>G n.2131T>G | |
8 | g.141168263T>A | CA372344023 | DENND3 | c.2013T>A (p.Phe671Leu) c.1773T>A (p.Phe591Leu) c.1617T>A (p.Phe539Leu) c.1786T>A n.1554T>A c.1812T>A (p.Phe604Leu) c.1656T>A (p.Phe552Leu) c.1779T>A (p.Phe593Leu) c.1269T>A (p.Phe423Leu) c.1446T>A (p.Phe482Leu) c.1440T>A (p.Phe480Leu) c.981T>A (p.Phe327Leu) c.510T>A (p.Phe170Leu) n.1942T>A n.2109T>A c.1857T>A (p.Phe619Leu) c.549T>A (p.Phe183Leu) n.2159T>A n.2132T>A | |
8 | g.141168263T>C | CA463493752 | DENND3 | c.2013T>C (p.Phe671=) c.1773T>C (p.Phe591=) c.1617T>C (p.Phe539=) c.1786T>C n.1554T>C c.1812T>C (p.Phe604=) c.1656T>C (p.Phe552=) c.1779T>C (p.Phe593=) c.1269T>C (p.Phe423=) c.1446T>C (p.Phe482=) c.1440T>C (p.Phe480=) c.981T>C (p.Phe327=) c.510T>C (p.Phe170=) n.1942T>C n.2109T>C c.1857T>C (p.Phe619=) c.549T>C (p.Phe183=) n.2159T>C n.2132T>C | |
8 | g.141168263T>G | CA372344024 | DENND3 | c.2013T>G (p.Phe671Leu) c.1773T>G (p.Phe591Leu) c.1617T>G (p.Phe539Leu) c.1786T>G n.1554T>G c.1812T>G (p.Phe604Leu) c.1656T>G (p.Phe552Leu) c.1779T>G (p.Phe593Leu) c.1269T>G (p.Phe423Leu) c.1446T>G (p.Phe482Leu) c.1440T>G (p.Phe480Leu) c.981T>G (p.Phe327Leu) c.510T>G (p.Phe170Leu) n.1942T>G n.2109T>G c.1857T>G (p.Phe619Leu) c.549T>G (p.Phe183Leu) n.2159T>G n.2132T>G | gnomAD v4 |
8 | g.141168264C>A | CA372344026 | DENND3 | c.2014C>A (p.Pro672Thr) c.1774C>A (p.Pro592Thr) c.1618C>A (p.Pro540Thr) c.1787C>A n.1555C>A c.1813C>A (p.Pro605Thr) c.1657C>A (p.Pro553Thr) c.1780C>A (p.Pro594Thr) c.1270C>A (p.Pro424Thr) c.1447C>A (p.Pro483Thr) c.1441C>A (p.Pro481Thr) c.982C>A (p.Pro328Thr) c.511C>A (p.Pro171Thr) n.1943C>A n.2110C>A c.1858C>A (p.Pro620Thr) c.550C>A (p.Pro184Thr) n.2160C>A n.2133C>A | |
8 | g.141168264C>G | CA372344027 | DENND3 | c.2014C>G (p.Pro672Ala) c.1774C>G (p.Pro592Ala) c.1618C>G (p.Pro540Ala) c.1787C>G n.1555C>G c.1813C>G (p.Pro605Ala) c.1657C>G (p.Pro553Ala) c.1780C>G (p.Pro594Ala) c.1270C>G (p.Pro424Ala) c.1447C>G (p.Pro483Ala) c.1441C>G (p.Pro481Ala) c.982C>G (p.Pro328Ala) c.511C>G (p.Pro171Ala) n.1943C>G n.2110C>G c.1858C>G (p.Pro620Ala) c.550C>G (p.Pro184Ala) n.2160C>G n.2133C>G | gnomAD v4 |
8 | g.141168264C>T | CA372344025 | DENND3 | c.2014C>T (p.Pro672Ser) c.1774C>T (p.Pro592Ser) c.1618C>T (p.Pro540Ser) c.1787C>T n.1555C>T c.1813C>T (p.Pro605Ser) c.1657C>T (p.Pro553Ser) c.1780C>T (p.Pro594Ser) c.1270C>T (p.Pro424Ser) c.1447C>T (p.Pro483Ser) c.1441C>T (p.Pro481Ser) c.982C>T (p.Pro328Ser) c.511C>T (p.Pro171Ser) n.1943C>T n.2110C>T c.1858C>T (p.Pro620Ser) c.550C>T (p.Pro184Ser) n.2160C>T n.2133C>T | |
8 | g.141168266dup | CA4896790 | DENND3 | c.2016dup (p.Thr673HisfsTer2) c.1776dup (p.Thr593HisfsTer2) c.1620dup (p.Thr541HisfsTer2) c.1789dup n.1557dup c.1815dup (p.Thr606HisfsTer2) c.1659dup (p.Thr554HisfsTer2) c.1782dup (p.Thr595HisfsTer2) c.1272dup (p.Thr425HisfsTer2) c.1449dup (p.Thr484HisfsTer2) c.1443dup (p.Thr482HisfsTer2) c.984dup (p.Thr329HisfsTer2) c.513dup (p.Thr172HisfsTer2) n.1945dup n.2112dup c.1860dup (p.Thr621HisfsTer2) c.552dup (p.Thr185HisfsTer2) n.2162dup n.2135dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168265C>A | CA372344028 | DENND3 | c.2015C>A (p.Pro672His) c.1775C>A (p.Pro592His) c.1619C>A (p.Pro540His) c.1788C>A n.1556C>A c.1814C>A (p.Pro605His) c.1658C>A (p.Pro553His) c.1781C>A (p.Pro594His) c.1271C>A (p.Pro424His) c.1448C>A (p.Pro483His) c.1442C>A (p.Pro481His) c.983C>A (p.Pro328His) c.512C>A (p.Pro171His) n.1944C>A n.2111C>A c.1859C>A (p.Pro620His) c.551C>A (p.Pro184His) n.2161C>A n.2134C>A | |
8 | g.141168265C>G | CA372344029 | DENND3 | c.2015C>G (p.Pro672Arg) c.1775C>G (p.Pro592Arg) c.1619C>G (p.Pro540Arg) c.1788C>G n.1556C>G c.1814C>G (p.Pro605Arg) c.1658C>G (p.Pro553Arg) c.1781C>G (p.Pro594Arg) c.1271C>G (p.Pro424Arg) c.1448C>G (p.Pro483Arg) c.1442C>G (p.Pro481Arg) c.983C>G (p.Pro328Arg) c.512C>G (p.Pro171Arg) n.1944C>G n.2111C>G c.1859C>G (p.Pro620Arg) c.551C>G (p.Pro184Arg) n.2161C>G n.2134C>G | |
8 | g.141168265C>T | CA372344030 | DENND3 | c.2015C>T (p.Pro672Leu) c.1775C>T (p.Pro592Leu) c.1619C>T (p.Pro540Leu) c.1788C>T n.1556C>T c.1814C>T (p.Pro605Leu) c.1658C>T (p.Pro553Leu) c.1781C>T (p.Pro594Leu) c.1271C>T (p.Pro424Leu) c.1448C>T (p.Pro483Leu) c.1442C>T (p.Pro481Leu) c.983C>T (p.Pro328Leu) c.512C>T (p.Pro171Leu) n.1944C>T n.2111C>T c.1859C>T (p.Pro620Leu) c.551C>T (p.Pro184Leu) n.2161C>T n.2134C>T | dbSNP |
8 | g.141168266C>A | CA463493761 | DENND3 | c.2016C>A (p.Pro672=) c.1776C>A (p.Pro592=) c.1620C>A (p.Pro540=) c.1789C>A n.1557C>A c.1815C>A (p.Pro605=) c.1659C>A (p.Pro553=) c.1782C>A (p.Pro594=) c.1272C>A (p.Pro424=) c.1449C>A (p.Pro483=) c.1443C>A (p.Pro481=) c.984C>A (p.Pro328=) c.513C>A (p.Pro171=) n.1945C>A n.2112C>A c.1860C>A (p.Pro620=) c.552C>A (p.Pro184=) n.2162C>A n.2135C>A | |
8 | g.141168266C>G | CA463493762 | DENND3 | c.2016C>G (p.Pro672=) c.1776C>G (p.Pro592=) c.1620C>G (p.Pro540=) c.1789C>G n.1557C>G c.1815C>G (p.Pro605=) c.1659C>G (p.Pro553=) c.1782C>G (p.Pro594=) c.1272C>G (p.Pro424=) c.1449C>G (p.Pro483=) c.1443C>G (p.Pro481=) c.984C>G (p.Pro328=) c.513C>G (p.Pro171=) n.1945C>G n.2112C>G c.1860C>G (p.Pro620=) c.552C>G (p.Pro184=) n.2162C>G n.2135C>G | |
8 | g.141168266C>T | CA463493764 | DENND3 | c.2016C>T (p.Pro672=) c.1776C>T (p.Pro592=) c.1620C>T (p.Pro540=) c.1789C>T n.1557C>T c.1815C>T (p.Pro605=) c.1659C>T (p.Pro553=) c.1782C>T (p.Pro594=) c.1272C>T (p.Pro424=) c.1449C>T (p.Pro483=) c.1443C>T (p.Pro481=) c.984C>T (p.Pro328=) c.513C>T (p.Pro171=) n.1945C>T n.2112C>T c.1860C>T (p.Pro620=) c.552C>T (p.Pro184=) n.2162C>T n.2135C>T | |
8 | g.141168267A>C | CA372344031 | DENND3 | c.2017A>C (p.Thr673Pro) c.1777A>C (p.Thr593Pro) c.1621A>C (p.Thr541Pro) c.1790A>C n.1558A>C c.1816A>C (p.Thr606Pro) c.1660A>C (p.Thr554Pro) c.1783A>C (p.Thr595Pro) c.1273A>C (p.Thr425Pro) c.1450A>C (p.Thr484Pro) c.1444A>C (p.Thr482Pro) c.985A>C (p.Thr329Pro) c.514A>C (p.Thr172Pro) n.1946A>C n.2113A>C c.1861A>C (p.Thr621Pro) c.553A>C (p.Thr185Pro) n.2163A>C n.2136A>C | |
8 | g.141168267A>G | CA372344032 | DENND3 | c.2017A>G (p.Thr673Ala) c.1777A>G (p.Thr593Ala) c.1621A>G (p.Thr541Ala) c.1790A>G n.1558A>G c.1816A>G (p.Thr606Ala) c.1660A>G (p.Thr554Ala) c.1783A>G (p.Thr595Ala) c.1273A>G (p.Thr425Ala) c.1450A>G (p.Thr484Ala) c.1444A>G (p.Thr482Ala) c.985A>G (p.Thr329Ala) c.514A>G (p.Thr172Ala) n.1946A>G n.2113A>G c.1861A>G (p.Thr621Ala) c.553A>G (p.Thr185Ala) n.2163A>G n.2136A>G | gnomAD v4 |
8 | g.141168267A>T | CA372344033 | DENND3 | c.2017A>T (p.Thr673Ser) c.1777A>T (p.Thr593Ser) c.1621A>T (p.Thr541Ser) c.1790A>T n.1558A>T c.1816A>T (p.Thr606Ser) c.1660A>T (p.Thr554Ser) c.1783A>T (p.Thr595Ser) c.1273A>T (p.Thr425Ser) c.1450A>T (p.Thr484Ser) c.1444A>T (p.Thr482Ser) c.985A>T (p.Thr329Ser) c.514A>T (p.Thr172Ser) n.1946A>T n.2113A>T c.1861A>T (p.Thr621Ser) c.553A>T (p.Thr185Ser) n.2163A>T n.2136A>T | |
8 | g.141168268C>A | CA372344034 | DENND3 | c.2018C>A (p.Thr673Asn) c.1778C>A (p.Thr593Asn) c.1622C>A (p.Thr541Asn) c.1791C>A n.1559C>A c.1817C>A (p.Thr606Asn) c.1661C>A (p.Thr554Asn) c.1784C>A (p.Thr595Asn) c.1274C>A (p.Thr425Asn) c.1451C>A (p.Thr484Asn) c.1445C>A (p.Thr482Asn) c.986C>A (p.Thr329Asn) c.515C>A (p.Thr172Asn) n.1947C>A n.2114C>A c.1862C>A (p.Thr621Asn) c.554C>A (p.Thr185Asn) n.2164C>A n.2137C>A | |
8 | g.141168268C>G | CA372344035 | DENND3 | c.2018C>G (p.Thr673Ser) c.1778C>G (p.Thr593Ser) c.1622C>G (p.Thr541Ser) c.1791C>G n.1559C>G c.1817C>G (p.Thr606Ser) c.1661C>G (p.Thr554Ser) c.1784C>G (p.Thr595Ser) c.1274C>G (p.Thr425Ser) c.1451C>G (p.Thr484Ser) c.1445C>G (p.Thr482Ser) c.986C>G (p.Thr329Ser) c.515C>G (p.Thr172Ser) n.1947C>G n.2114C>G c.1862C>G (p.Thr621Ser) c.554C>G (p.Thr185Ser) n.2164C>G n.2137C>G | |
8 | g.141168268C>T | CA372344036 | DENND3 | c.2018C>T (p.Thr673Ile) c.1778C>T (p.Thr593Ile) c.1622C>T (p.Thr541Ile) c.1791C>T n.1559C>T c.1817C>T (p.Thr606Ile) c.1661C>T (p.Thr554Ile) c.1784C>T (p.Thr595Ile) c.1274C>T (p.Thr425Ile) c.1451C>T (p.Thr484Ile) c.1445C>T (p.Thr482Ile) c.986C>T (p.Thr329Ile) c.515C>T (p.Thr172Ile) n.1947C>T n.2114C>T c.1862C>T (p.Thr621Ile) c.554C>T (p.Thr185Ile) n.2164C>T n.2137C>T | |
8 | g.141168269T>A | CA463493773 | DENND3 | c.2019T>A (p.Thr673=) c.1779T>A (p.Thr593=) c.1623T>A (p.Thr541=) c.1792T>A n.1560T>A c.1818T>A (p.Thr606=) c.1662T>A (p.Thr554=) c.1785T>A (p.Thr595=) c.1275T>A (p.Thr425=) c.1452T>A (p.Thr484=) c.1446T>A (p.Thr482=) c.987T>A (p.Thr329=) c.516T>A (p.Thr172=) n.1948T>A n.2115T>A c.1863T>A (p.Thr621=) c.555T>A (p.Thr185=) n.2165T>A n.2138T>A | |
8 | g.141168269T>C | CA463493775 | DENND3 | c.2019T>C (p.Thr673=) c.1779T>C (p.Thr593=) c.1623T>C (p.Thr541=) c.1792T>C n.1560T>C c.1818T>C (p.Thr606=) c.1662T>C (p.Thr554=) c.1785T>C (p.Thr595=) c.1275T>C (p.Thr425=) c.1452T>C (p.Thr484=) c.1446T>C (p.Thr482=) c.987T>C (p.Thr329=) c.516T>C (p.Thr172=) n.1948T>C n.2115T>C c.1863T>C (p.Thr621=) c.555T>C (p.Thr185=) n.2165T>C n.2138T>C | |
8 | g.141168269T>G | CA463493777 | DENND3 | c.2019T>G (p.Thr673=) c.1779T>G (p.Thr593=) c.1623T>G (p.Thr541=) c.1792T>G n.1560T>G c.1818T>G (p.Thr606=) c.1662T>G (p.Thr554=) c.1785T>G (p.Thr595=) c.1275T>G (p.Thr425=) c.1452T>G (p.Thr484=) c.1446T>G (p.Thr482=) c.987T>G (p.Thr329=) c.516T>G (p.Thr172=) n.1948T>G n.2115T>G c.1863T>G (p.Thr621=) c.555T>G (p.Thr185=) n.2165T>G n.2138T>G | gnomAD v4 |
8 | g.141168270G>A | CA372344037 | DENND3 | c.2020G>A (p.Asp674Asn) c.1780G>A (p.Asp594Asn) c.1624G>A (p.Asp542Asn) c.1793G>A n.1561G>A c.1819G>A (p.Asp607Asn) c.1663G>A (p.Asp555Asn) c.1786G>A (p.Asp596Asn) c.1276G>A (p.Asp426Asn) c.1453G>A (p.Asp485Asn) c.1447G>A (p.Asp483Asn) c.988G>A (p.Asp330Asn) c.517G>A (p.Asp173Asn) n.1949G>A n.2116G>A c.1864G>A (p.Asp622Asn) c.556G>A (p.Asp186Asn) n.2166G>A n.2139G>A | gnomAD v4 |
8 | g.141168270G>C | CA372344038 | DENND3 | c.2020G>C (p.Asp674His) c.1780G>C (p.Asp594His) c.1624G>C (p.Asp542His) c.1793G>C n.1561G>C c.1819G>C (p.Asp607His) c.1663G>C (p.Asp555His) c.1786G>C (p.Asp596His) c.1276G>C (p.Asp426His) c.1453G>C (p.Asp485His) c.1447G>C (p.Asp483His) c.988G>C (p.Asp330His) c.517G>C (p.Asp173His) n.1949G>C n.2116G>C c.1864G>C (p.Asp622His) c.556G>C (p.Asp186His) n.2166G>C n.2139G>C | |
8 | g.141168270G>T | CA372344039 | DENND3 | c.2020G>T (p.Asp674Tyr) c.1780G>T (p.Asp594Tyr) c.1624G>T (p.Asp542Tyr) c.1793G>T n.1561G>T c.1819G>T (p.Asp607Tyr) c.1663G>T (p.Asp555Tyr) c.1786G>T (p.Asp596Tyr) c.1276G>T (p.Asp426Tyr) c.1453G>T (p.Asp485Tyr) c.1447G>T (p.Asp483Tyr) c.988G>T (p.Asp330Tyr) c.517G>T (p.Asp173Tyr) n.1949G>T n.2116G>T c.1864G>T (p.Asp622Tyr) c.556G>T (p.Asp186Tyr) n.2166G>T n.2139G>T | |
8 | g.141168271A>C | CA372344042 | DENND3 | c.2021A>C (p.Asp674Ala) c.1781A>C (p.Asp594Ala) c.1625A>C (p.Asp542Ala) c.1794A>C n.1562A>C c.1820A>C (p.Asp607Ala) c.1664A>C (p.Asp555Ala) c.1787A>C (p.Asp596Ala) c.1277A>C (p.Asp426Ala) c.1454A>C (p.Asp485Ala) c.1448A>C (p.Asp483Ala) c.989A>C (p.Asp330Ala) c.518A>C (p.Asp173Ala) n.1950A>C n.2117A>C c.1865A>C (p.Asp622Ala) c.557A>C (p.Asp186Ala) n.2167A>C n.2140A>C | |
8 | g.141168271A>G | CA372344041 | DENND3 | c.2021A>G (p.Asp674Gly) c.1781A>G (p.Asp594Gly) c.1625A>G (p.Asp542Gly) c.1794A>G n.1562A>G c.1820A>G (p.Asp607Gly) c.1664A>G (p.Asp555Gly) c.1787A>G (p.Asp596Gly) c.1277A>G (p.Asp426Gly) c.1454A>G (p.Asp485Gly) c.1448A>G (p.Asp483Gly) c.989A>G (p.Asp330Gly) c.518A>G (p.Asp173Gly) n.1950A>G n.2117A>G c.1865A>G (p.Asp622Gly) c.557A>G (p.Asp186Gly) n.2167A>G n.2140A>G | |
8 | g.141168271A>T | CA372344040 | DENND3 | c.2021A>T (p.Asp674Val) c.1781A>T (p.Asp594Val) c.1625A>T (p.Asp542Val) c.1794A>T n.1562A>T c.1820A>T (p.Asp607Val) c.1664A>T (p.Asp555Val) c.1787A>T (p.Asp596Val) c.1277A>T (p.Asp426Val) c.1454A>T (p.Asp485Val) c.1448A>T (p.Asp483Val) c.989A>T (p.Asp330Val) c.518A>T (p.Asp173Val) n.1950A>T n.2117A>T c.1865A>T (p.Asp622Val) c.557A>T (p.Asp186Val) n.2167A>T n.2140A>T | |
8 | g.141168272T>A | CA372344043 | DENND3 | c.2022T>A (p.Asp674Glu) c.1782T>A (p.Asp594Glu) c.1626T>A (p.Asp542Glu) c.1795T>A n.1563T>A c.1821T>A (p.Asp607Glu) c.1665T>A (p.Asp555Glu) c.1788T>A (p.Asp596Glu) c.1278T>A (p.Asp426Glu) c.1455T>A (p.Asp485Glu) c.1449T>A (p.Asp483Glu) c.990T>A (p.Asp330Glu) c.519T>A (p.Asp173Glu) n.1951T>A n.2118T>A c.1866T>A (p.Asp622Glu) c.558T>A (p.Asp186Glu) n.2168T>A n.2141T>A | |
8 | g.141168272T>C | CA4896791 | DENND3 | c.2022T>C (p.Asp674=) c.1782T>C (p.Asp594=) c.1626T>C (p.Asp542=) c.1795T>C n.1563T>C c.1821T>C (p.Asp607=) c.1665T>C (p.Asp555=) c.1788T>C (p.Asp596=) c.1278T>C (p.Asp426=) c.1455T>C (p.Asp485=) c.1449T>C (p.Asp483=) c.990T>C (p.Asp330=) c.519T>C (p.Asp173=) n.1951T>C n.2118T>C c.1866T>C (p.Asp622=) c.558T>C (p.Asp186=) n.2168T>C n.2141T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168272T>G | CA372344044 | DENND3 | c.2022T>G (p.Asp674Glu) c.1782T>G (p.Asp594Glu) c.1626T>G (p.Asp542Glu) c.1795T>G n.1563T>G c.1821T>G (p.Asp607Glu) c.1665T>G (p.Asp555Glu) c.1788T>G (p.Asp596Glu) c.1278T>G (p.Asp426Glu) c.1455T>G (p.Asp485Glu) c.1449T>G (p.Asp483Glu) c.990T>G (p.Asp330Glu) c.519T>G (p.Asp173Glu) n.1951T>G n.2118T>G c.1866T>G (p.Asp622Glu) c.558T>G (p.Asp186Glu) n.2168T>G n.2141T>G | |
8 | g.141168273T>A | CA4896792 | DENND3 | c.2023T>A (p.Leu675Met) c.1783T>A (p.Leu595Met) c.1627T>A (p.Leu543Met) c.1796T>A n.1564T>A c.1822T>A (p.Leu608Met) c.1666T>A (p.Leu556Met) c.1789T>A (p.Leu597Met) c.1279T>A (p.Leu427Met) c.1456T>A (p.Leu486Met) c.1450T>A (p.Leu484Met) c.991T>A (p.Leu331Met) c.520T>A (p.Leu174Met) n.1952T>A n.2119T>A c.1867T>A (p.Leu623Met) c.559T>A (p.Leu187Met) n.2169T>A n.2142T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168273T>C | CA463493790 | DENND3 | c.2023T>C (p.Leu675=) c.1783T>C (p.Leu595=) c.1627T>C (p.Leu543=) c.1796T>C n.1564T>C c.1822T>C (p.Leu608=) c.1666T>C (p.Leu556=) c.1789T>C (p.Leu597=) c.1279T>C (p.Leu427=) c.1456T>C (p.Leu486=) c.1450T>C (p.Leu484=) c.991T>C (p.Leu331=) c.520T>C (p.Leu174=) n.1952T>C n.2119T>C c.1867T>C (p.Leu623=) c.559T>C (p.Leu187=) n.2169T>C n.2142T>C | |
8 | g.141168273T>G | CA372344045 | DENND3 | c.2023T>G (p.Leu675Val) c.1783T>G (p.Leu595Val) c.1627T>G (p.Leu543Val) c.1796T>G n.1564T>G c.1822T>G (p.Leu608Val) c.1666T>G (p.Leu556Val) c.1789T>G (p.Leu597Val) c.1279T>G (p.Leu427Val) c.1456T>G (p.Leu486Val) c.1450T>G (p.Leu484Val) c.991T>G (p.Leu331Val) c.520T>G (p.Leu174Val) n.1952T>G n.2119T>G c.1867T>G (p.Leu623Val) c.559T>G (p.Leu187Val) n.2169T>G n.2142T>G | |
8 | g.141168274T>A | CA372344046 | DENND3 | c.2024T>A (p.Leu675Ter) c.1784T>A (p.Leu595Ter) c.1628T>A (p.Leu543Ter) c.1797T>A n.1565T>A c.1823T>A (p.Leu608Ter) c.1667T>A (p.Leu556Ter) c.1790T>A (p.Leu597Ter) c.1280T>A (p.Leu427Ter) c.1457T>A (p.Leu486Ter) c.1451T>A (p.Leu484Ter) c.992T>A (p.Leu331Ter) c.521T>A (p.Leu174Ter) n.1953T>A n.2120T>A c.1868T>A (p.Leu623Ter) c.560T>A (p.Leu187Ter) n.2170T>A n.2143T>A | |
8 | g.141168274T>C | CA372344047 | DENND3 | c.2024T>C (p.Leu675Ser) c.1784T>C (p.Leu595Ser) c.1628T>C (p.Leu543Ser) c.1797T>C n.1565T>C c.1823T>C (p.Leu608Ser) c.1667T>C (p.Leu556Ser) c.1790T>C (p.Leu597Ser) c.1280T>C (p.Leu427Ser) c.1457T>C (p.Leu486Ser) c.1451T>C (p.Leu484Ser) c.992T>C (p.Leu331Ser) c.521T>C (p.Leu174Ser) n.1953T>C n.2120T>C c.1868T>C (p.Leu623Ser) c.560T>C (p.Leu187Ser) n.2170T>C n.2143T>C | |
8 | g.141168274T>G | CA372344048 | DENND3 | c.2024T>G (p.Leu675Trp) c.1784T>G (p.Leu595Trp) c.1628T>G (p.Leu543Trp) c.1797T>G n.1565T>G c.1823T>G (p.Leu608Trp) c.1667T>G (p.Leu556Trp) c.1790T>G (p.Leu597Trp) c.1280T>G (p.Leu427Trp) c.1457T>G (p.Leu486Trp) c.1451T>G (p.Leu484Trp) c.992T>G (p.Leu331Trp) c.521T>G (p.Leu174Trp) n.1953T>G n.2120T>G c.1868T>G (p.Leu623Trp) c.560T>G (p.Leu187Trp) n.2170T>G n.2143T>G | |
8 | g.141168275G>A | CA463493795 | DENND3 | c.2025G>A (p.Leu675=) c.1785G>A (p.Leu595=) c.1629G>A (p.Leu543=) c.1798G>A n.1566G>A c.1824G>A (p.Leu608=) c.1668G>A (p.Leu556=) c.1791G>A (p.Leu597=) c.1281G>A (p.Leu427=) c.1458G>A (p.Leu486=) c.1452G>A (p.Leu484=) c.993G>A (p.Leu331=) c.522G>A (p.Leu174=) n.1954G>A n.2121G>A c.1869G>A (p.Leu623=) c.561G>A (p.Leu187=) n.2171G>A n.2144G>A | |
8 | g.141168275G>C | CA372344049 | DENND3 | c.2025G>C (p.Leu675Phe) c.1785G>C (p.Leu595Phe) c.1629G>C (p.Leu543Phe) c.1798G>C n.1566G>C c.1824G>C (p.Leu608Phe) c.1668G>C (p.Leu556Phe) c.1791G>C (p.Leu597Phe) c.1281G>C (p.Leu427Phe) c.1458G>C (p.Leu486Phe) c.1452G>C (p.Leu484Phe) c.993G>C (p.Leu331Phe) c.522G>C (p.Leu174Phe) n.1954G>C n.2121G>C c.1869G>C (p.Leu623Phe) c.561G>C (p.Leu187Phe) n.2171G>C n.2144G>C | |
8 | g.141168275G>T | CA372344050 | DENND3 | c.2025G>T (p.Leu675Phe) c.1785G>T (p.Leu595Phe) c.1629G>T (p.Leu543Phe) c.1798G>T n.1566G>T c.1824G>T (p.Leu608Phe) c.1668G>T (p.Leu556Phe) c.1791G>T (p.Leu597Phe) c.1281G>T (p.Leu427Phe) c.1458G>T (p.Leu486Phe) c.1452G>T (p.Leu484Phe) c.993G>T (p.Leu331Phe) c.522G>T (p.Leu174Phe) n.1954G>T n.2121G>T c.1869G>T (p.Leu623Phe) c.561G>T (p.Leu187Phe) n.2171G>T n.2144G>T | |
8 | g.141168276G>A | CA4896793 | DENND3 | c.2026G>A (p.Val676Met) c.1786G>A (p.Val596Met) c.1630G>A (p.Val544Met) c.1799G>A n.1567G>A c.1825G>A (p.Val609Met) c.1669G>A (p.Val557Met) c.1792G>A (p.Val598Met) c.1282G>A (p.Val428Met) c.1459G>A (p.Val487Met) c.1453G>A (p.Val485Met) c.994G>A (p.Val332Met) c.523G>A (p.Val175Met) n.1955G>A n.2122G>A c.1870G>A (p.Val624Met) c.562G>A (p.Val188Met) n.2172G>A n.2145G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168276G>C | CA372344051 | DENND3 | c.2026G>C (p.Val676Leu) c.1786G>C (p.Val596Leu) c.1630G>C (p.Val544Leu) c.1799G>C n.1567G>C c.1825G>C (p.Val609Leu) c.1669G>C (p.Val557Leu) c.1792G>C (p.Val598Leu) c.1282G>C (p.Val428Leu) c.1459G>C (p.Val487Leu) c.1453G>C (p.Val485Leu) c.994G>C (p.Val332Leu) c.523G>C (p.Val175Leu) n.1955G>C n.2122G>C c.1870G>C (p.Val624Leu) c.562G>C (p.Val188Leu) n.2172G>C n.2145G>C | |
8 | g.141168276G>T | CA372344052 | DENND3 | c.2026G>T (p.Val676Leu) c.1786G>T (p.Val596Leu) c.1630G>T (p.Val544Leu) c.1799G>T n.1567G>T c.1825G>T (p.Val609Leu) c.1669G>T (p.Val557Leu) c.1792G>T (p.Val598Leu) c.1282G>T (p.Val428Leu) c.1459G>T (p.Val487Leu) c.1453G>T (p.Val485Leu) c.994G>T (p.Val332Leu) c.523G>T (p.Val175Leu) n.1955G>T n.2122G>T c.1870G>T (p.Val624Leu) c.562G>T (p.Val188Leu) n.2172G>T n.2145G>T | |
8 | g.141168277T>A | CA372344054 | DENND3 | c.2027T>A (p.Val676Glu) c.1787T>A (p.Val596Glu) c.1631T>A (p.Val544Glu) c.1800T>A n.1568T>A c.1826T>A (p.Val609Glu) c.1670T>A (p.Val557Glu) c.1793T>A (p.Val598Glu) c.1283T>A (p.Val428Glu) c.1460T>A (p.Val487Glu) c.1454T>A (p.Val485Glu) c.995T>A (p.Val332Glu) c.524T>A (p.Val175Glu) n.1956T>A n.2123T>A c.1871T>A (p.Val624Glu) c.563T>A (p.Val188Glu) n.2173T>A n.2146T>A | |
8 | g.141168277T>C | CA372344055 | DENND3 | c.2027T>C (p.Val676Ala) c.1787T>C (p.Val596Ala) c.1631T>C (p.Val544Ala) c.1800T>C n.1568T>C c.1826T>C (p.Val609Ala) c.1670T>C (p.Val557Ala) c.1793T>C (p.Val598Ala) c.1283T>C (p.Val428Ala) c.1460T>C (p.Val487Ala) c.1454T>C (p.Val485Ala) c.995T>C (p.Val332Ala) c.524T>C (p.Val175Ala) n.1956T>C n.2123T>C c.1871T>C (p.Val624Ala) c.563T>C (p.Val188Ala) n.2173T>C n.2146T>C | |
8 | g.141168277T>G | CA372344053 | DENND3 | c.2027T>G (p.Val676Gly) c.1787T>G (p.Val596Gly) c.1631T>G (p.Val544Gly) c.1800T>G n.1568T>G c.1826T>G (p.Val609Gly) c.1670T>G (p.Val557Gly) c.1793T>G (p.Val598Gly) c.1283T>G (p.Val428Gly) c.1460T>G (p.Val487Gly) c.1454T>G (p.Val485Gly) c.995T>G (p.Val332Gly) c.524T>G (p.Val175Gly) n.1956T>G n.2123T>G c.1871T>G (p.Val624Gly) c.563T>G (p.Val188Gly) n.2173T>G n.2146T>G | |
8 | g.141168278G>A | CA4896794 | DENND3 | c.2028G>A (p.Val676=) c.1788G>A (p.Val596=) c.1632G>A (p.Val544=) c.1801G>A n.1569G>A c.1827G>A (p.Val609=) c.1671G>A (p.Val557=) c.1794G>A (p.Val598=) c.1284G>A (p.Val428=) c.1461G>A (p.Val487=) c.1455G>A (p.Val485=) c.996G>A (p.Val332=) c.525G>A (p.Val175=) n.1957G>A n.2124G>A c.1872G>A (p.Val624=) c.564G>A (p.Val188=) n.2174G>A n.2147G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168278G>C | CA463493826 | DENND3 | c.2028G>C (p.Val676=) c.1788G>C (p.Val596=) c.1632G>C (p.Val544=) c.1801G>C n.1569G>C c.1827G>C (p.Val609=) c.1671G>C (p.Val557=) c.1794G>C (p.Val598=) c.1284G>C (p.Val428=) c.1461G>C (p.Val487=) c.1455G>C (p.Val485=) c.996G>C (p.Val332=) c.525G>C (p.Val175=) n.1957G>C n.2124G>C c.1872G>C (p.Val624=) c.564G>C (p.Val188=) n.2174G>C n.2147G>C | |
8 | g.141168278G>T | CA463493829 | DENND3 | c.2028G>T (p.Val676=) c.1788G>T (p.Val596=) c.1632G>T (p.Val544=) c.1801G>T n.1569G>T c.1827G>T (p.Val609=) c.1671G>T (p.Val557=) c.1794G>T (p.Val598=) c.1284G>T (p.Val428=) c.1461G>T (p.Val487=) c.1455G>T (p.Val485=) c.996G>T (p.Val332=) c.525G>T (p.Val175=) n.1957G>T n.2124G>T c.1872G>T (p.Val624=) c.564G>T (p.Val188=) n.2174G>T n.2147G>T | dbSNP |
8 | g.141168279A>C | CA372344056 | DENND3 | c.2029A>C (p.Lys677Gln) c.1789A>C (p.Lys597Gln) c.1633A>C (p.Lys545Gln) c.1802A>C n.1570A>C c.1828A>C (p.Lys610Gln) c.1672A>C (p.Lys558Gln) c.1795A>C (p.Lys599Gln) c.1285A>C (p.Lys429Gln) c.1462A>C (p.Lys488Gln) c.1456A>C (p.Lys486Gln) c.997A>C (p.Lys333Gln) c.526A>C (p.Lys176Gln) n.1958A>C n.2125A>C c.1873A>C (p.Lys625Gln) c.565A>C (p.Lys189Gln) n.2175A>C n.2148A>C | |
8 | g.141168279A>G | CA372344057 | DENND3 | c.2029A>G (p.Lys677Glu) c.1789A>G (p.Lys597Glu) c.1633A>G (p.Lys545Glu) c.1802A>G n.1570A>G c.1828A>G (p.Lys610Glu) c.1672A>G (p.Lys558Glu) c.1795A>G (p.Lys599Glu) c.1285A>G (p.Lys429Glu) c.1462A>G (p.Lys488Glu) c.1456A>G (p.Lys486Glu) c.997A>G (p.Lys333Glu) c.526A>G (p.Lys176Glu) n.1958A>G n.2125A>G c.1873A>G (p.Lys625Glu) c.565A>G (p.Lys189Glu) n.2175A>G n.2148A>G | |
8 | g.141168279A>T | CA372344058 | DENND3 | c.2029A>T (p.Lys677Ter) c.1789A>T (p.Lys597Ter) c.1633A>T (p.Lys545Ter) c.1802A>T n.1570A>T c.1828A>T (p.Lys610Ter) c.1672A>T (p.Lys558Ter) c.1795A>T (p.Lys599Ter) c.1285A>T (p.Lys429Ter) c.1462A>T (p.Lys488Ter) c.1456A>T (p.Lys486Ter) c.997A>T (p.Lys333Ter) c.526A>T (p.Lys176Ter) n.1958A>T n.2125A>T c.1873A>T (p.Lys625Ter) c.565A>T (p.Lys189Ter) n.2175A>T n.2148A>T | |
8 | g.141168280A>C | CA372344059 | DENND3 | c.2030A>C (p.Lys677Thr) c.1790A>C (p.Lys597Thr) c.1634A>C (p.Lys545Thr) c.1803A>C n.1571A>C c.1829A>C (p.Lys610Thr) c.1673A>C (p.Lys558Thr) c.1796A>C (p.Lys599Thr) c.1286A>C (p.Lys429Thr) c.1463A>C (p.Lys488Thr) c.1457A>C (p.Lys486Thr) c.998A>C (p.Lys333Thr) c.527A>C (p.Lys176Thr) n.1959A>C n.2126A>C c.1874A>C (p.Lys625Thr) c.566A>C (p.Lys189Thr) n.2176A>C n.2149A>C | |
8 | g.141168280A>G | CA372344060 | DENND3 | c.2030A>G (p.Lys677Arg) c.1790A>G (p.Lys597Arg) c.1634A>G (p.Lys545Arg) c.1803A>G n.1571A>G c.1829A>G (p.Lys610Arg) c.1673A>G (p.Lys558Arg) c.1796A>G (p.Lys599Arg) c.1286A>G (p.Lys429Arg) c.1463A>G (p.Lys488Arg) c.1457A>G (p.Lys486Arg) c.998A>G (p.Lys333Arg) c.527A>G (p.Lys176Arg) n.1959A>G n.2126A>G c.1874A>G (p.Lys625Arg) c.566A>G (p.Lys189Arg) n.2176A>G n.2149A>G | |
8 | g.141168280A>T | CA372344061 | DENND3 | c.2030A>T (p.Lys677Met) c.1790A>T (p.Lys597Met) c.1634A>T (p.Lys545Met) c.1803A>T n.1571A>T c.1829A>T (p.Lys610Met) c.1673A>T (p.Lys558Met) c.1796A>T (p.Lys599Met) c.1286A>T (p.Lys429Met) c.1463A>T (p.Lys488Met) c.1457A>T (p.Lys486Met) c.998A>T (p.Lys333Met) c.527A>T (p.Lys176Met) n.1959A>T n.2126A>T c.1874A>T (p.Lys625Met) c.566A>T (p.Lys189Met) n.2176A>T n.2149A>T | |
8 | g.141168281G>A | CA463493839 | DENND3 | c.2031G>A (p.Lys677=) c.1791G>A (p.Lys597=) c.1635G>A (p.Lys545=) c.1804G>A n.1572G>A c.1830G>A (p.Lys610=) c.1674G>A (p.Lys558=) c.1797G>A (p.Lys599=) c.1287G>A (p.Lys429=) c.1464G>A (p.Lys488=) c.1458G>A (p.Lys486=) c.999G>A (p.Lys333=) c.528G>A (p.Lys176=) n.1960G>A n.2127G>A c.1875G>A (p.Lys625=) c.567G>A (p.Lys189=) n.2177G>A n.2150G>A | |
8 | g.141168281G>C | CA372344062 | DENND3 | c.2031G>C (p.Lys677Asn) c.1791G>C (p.Lys597Asn) c.1635G>C (p.Lys545Asn) c.1804G>C n.1572G>C c.1830G>C (p.Lys610Asn) c.1674G>C (p.Lys558Asn) c.1797G>C (p.Lys599Asn) c.1287G>C (p.Lys429Asn) c.1464G>C (p.Lys488Asn) c.1458G>C (p.Lys486Asn) c.999G>C (p.Lys333Asn) c.528G>C (p.Lys176Asn) n.1960G>C n.2127G>C c.1875G>C (p.Lys625Asn) c.567G>C (p.Lys189Asn) n.2177G>C n.2150G>C | |
8 | g.141168281G>T | CA372344063 | DENND3 | c.2031G>T (p.Lys677Asn) c.1791G>T (p.Lys597Asn) c.1635G>T (p.Lys545Asn) c.1804G>T n.1572G>T c.1830G>T (p.Lys610Asn) c.1674G>T (p.Lys558Asn) c.1797G>T (p.Lys599Asn) c.1287G>T (p.Lys429Asn) c.1464G>T (p.Lys488Asn) c.1458G>T (p.Lys486Asn) c.999G>T (p.Lys333Asn) c.528G>T (p.Lys176Asn) n.1960G>T n.2127G>T c.1875G>T (p.Lys625Asn) c.567G>T (p.Lys189Asn) n.2177G>T n.2150G>T | |
8 | g.141168282A>C | CA463493844 | DENND3 | c.2032A>C (p.Arg678=) c.1792A>C (p.Arg598=) c.1636A>C (p.Arg546=) c.1805A>C n.1573A>C c.1831A>C (p.Arg611=) c.1675A>C (p.Arg559=) c.1798A>C (p.Arg600=) c.1288A>C (p.Arg430=) c.1465A>C (p.Arg489=) c.1459A>C (p.Arg487=) c.1000A>C (p.Arg334=) c.529A>C (p.Arg177=) n.1961A>C n.2128A>C c.1876A>C (p.Arg626=) c.568A>C (p.Arg190=) n.2178A>C n.2151A>C | |
8 | g.141168282A>G | CA372344064 | DENND3 | c.2032A>G (p.Arg678Gly) c.1792A>G (p.Arg598Gly) c.1636A>G (p.Arg546Gly) c.1805A>G n.1573A>G c.1831A>G (p.Arg611Gly) c.1675A>G (p.Arg559Gly) c.1798A>G (p.Arg600Gly) c.1288A>G (p.Arg430Gly) c.1465A>G (p.Arg489Gly) c.1459A>G (p.Arg487Gly) c.1000A>G (p.Arg334Gly) c.529A>G (p.Arg177Gly) n.1961A>G n.2128A>G c.1876A>G (p.Arg626Gly) c.568A>G (p.Arg190Gly) n.2178A>G n.2151A>G | |
8 | g.141168282A>T | CA372344065 | DENND3 | c.2032A>T (p.Arg678Trp) c.1792A>T (p.Arg598Trp) c.1636A>T (p.Arg546Trp) c.1805A>T n.1573A>T c.1831A>T (p.Arg611Trp) c.1675A>T (p.Arg559Trp) c.1798A>T (p.Arg600Trp) c.1288A>T (p.Arg430Trp) c.1465A>T (p.Arg489Trp) c.1459A>T (p.Arg487Trp) c.1000A>T (p.Arg334Trp) c.529A>T (p.Arg177Trp) n.1961A>T n.2128A>T c.1876A>T (p.Arg626Trp) c.568A>T (p.Arg190Trp) n.2178A>T n.2151A>T | |
8 | g.141168283G>A | CA372344068 | DENND3 | c.2033G>A (p.Arg678Lys) c.1793G>A (p.Arg598Lys) c.1637G>A (p.Arg546Lys) c.1806G>A n.1574G>A c.1832G>A (p.Arg611Lys) c.1676G>A (p.Arg559Lys) c.1799G>A (p.Arg600Lys) c.1289G>A (p.Arg430Lys) c.1466G>A (p.Arg489Lys) c.1460G>A (p.Arg487Lys) c.1001G>A (p.Arg334Lys) c.530G>A (p.Arg177Lys) n.1962G>A n.2129G>A c.1877G>A (p.Arg626Lys) c.569G>A (p.Arg190Lys) n.2179G>A n.2152G>A | gnomAD v4 |
8 | g.141168283G>C | CA372344067 | DENND3 | c.2033G>C (p.Arg678Thr) c.1793G>C (p.Arg598Thr) c.1637G>C (p.Arg546Thr) c.1806G>C n.1574G>C c.1832G>C (p.Arg611Thr) c.1676G>C (p.Arg559Thr) c.1799G>C (p.Arg600Thr) c.1289G>C (p.Arg430Thr) c.1466G>C (p.Arg489Thr) c.1460G>C (p.Arg487Thr) c.1001G>C (p.Arg334Thr) c.530G>C (p.Arg177Thr) n.1962G>C n.2129G>C c.1877G>C (p.Arg626Thr) c.569G>C (p.Arg190Thr) n.2179G>C n.2152G>C | |
8 | g.141168283G>T | CA372344066 | DENND3 | c.2033G>T (p.Arg678Met) c.1793G>T (p.Arg598Met) c.1637G>T (p.Arg546Met) c.1806G>T n.1574G>T c.1832G>T (p.Arg611Met) c.1676G>T (p.Arg559Met) c.1799G>T (p.Arg600Met) c.1289G>T (p.Arg430Met) c.1466G>T (p.Arg489Met) c.1460G>T (p.Arg487Met) c.1001G>T (p.Arg334Met) c.530G>T (p.Arg177Met) n.1962G>T n.2129G>T c.1877G>T (p.Arg626Met) c.569G>T (p.Arg190Met) n.2179G>T n.2152G>T | |
8 | g.141168284G>A | CA463493852 | DENND3 | c.2034G>A (p.Arg678=) c.1794G>A (p.Arg598=) c.1638G>A (p.Arg546=) c.1807G>A n.1575G>A c.1833G>A (p.Arg611=) c.1677G>A (p.Arg559=) c.1800G>A (p.Arg600=) c.1290G>A (p.Arg430=) c.1467G>A (p.Arg489=) c.1461G>A (p.Arg487=) c.1002G>A (p.Arg334=) c.531G>A (p.Arg177=) n.1963G>A n.2130G>A c.1878G>A (p.Arg626=) c.570G>A (p.Arg190=) n.2180G>A n.2153G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168284G>C | CA372344069 | DENND3 | c.2034G>C (p.Arg678Ser) c.1794G>C (p.Arg598Ser) c.1638G>C (p.Arg546Ser) c.1807G>C n.1575G>C c.1833G>C (p.Arg611Ser) c.1677G>C (p.Arg559Ser) c.1800G>C (p.Arg600Ser) c.1290G>C (p.Arg430Ser) c.1467G>C (p.Arg489Ser) c.1461G>C (p.Arg487Ser) c.1002G>C (p.Arg334Ser) c.531G>C (p.Arg177Ser) n.1963G>C n.2130G>C c.1878G>C (p.Arg626Ser) c.570G>C (p.Arg190Ser) n.2180G>C n.2153G>C | |
8 | g.141168284G>T | CA372344070 | DENND3 | c.2034G>T (p.Arg678Ser) c.1794G>T (p.Arg598Ser) c.1638G>T (p.Arg546Ser) c.1807G>T n.1575G>T c.1833G>T (p.Arg611Ser) c.1677G>T (p.Arg559Ser) c.1800G>T (p.Arg600Ser) c.1290G>T (p.Arg430Ser) c.1467G>T (p.Arg489Ser) c.1461G>T (p.Arg487Ser) c.1002G>T (p.Arg334Ser) c.531G>T (p.Arg177Ser) n.1963G>T n.2130G>T c.1878G>T (p.Arg626Ser) c.570G>T (p.Arg190Ser) n.2180G>T n.2153G>T | |
8 | g.141168285A>C | CA372344071 | DENND3 | c.2035A>C (p.Thr679Pro) c.1795A>C (p.Thr599Pro) c.1639A>C (p.Thr547Pro) c.1808A>C n.1576A>C c.1834A>C (p.Thr612Pro) c.1678A>C (p.Thr560Pro) c.1801A>C (p.Thr601Pro) c.1291A>C (p.Thr431Pro) c.1468A>C (p.Thr490Pro) c.1462A>C (p.Thr488Pro) c.1003A>C (p.Thr335Pro) c.532A>C (p.Thr178Pro) n.1964A>C n.2131A>C c.1879A>C (p.Thr627Pro) c.571A>C (p.Thr191Pro) n.2181A>C n.2154A>C | |
8 | g.141168285A>G | CA372344072 | DENND3 | c.2035A>G (p.Thr679Ala) c.1795A>G (p.Thr599Ala) c.1639A>G (p.Thr547Ala) c.1808A>G n.1576A>G c.1834A>G (p.Thr612Ala) c.1678A>G (p.Thr560Ala) c.1801A>G (p.Thr601Ala) c.1291A>G (p.Thr431Ala) c.1468A>G (p.Thr490Ala) c.1462A>G (p.Thr488Ala) c.1003A>G (p.Thr335Ala) c.532A>G (p.Thr178Ala) n.1964A>G n.2131A>G c.1879A>G (p.Thr627Ala) c.571A>G (p.Thr191Ala) n.2181A>G n.2154A>G | |
8 | g.141168285A>T | CA372344073 | DENND3 | c.2035A>T (p.Thr679Ser) c.1795A>T (p.Thr599Ser) c.1639A>T (p.Thr547Ser) c.1808A>T n.1576A>T c.1834A>T (p.Thr612Ser) c.1678A>T (p.Thr560Ser) c.1801A>T (p.Thr601Ser) c.1291A>T (p.Thr431Ser) c.1468A>T (p.Thr490Ser) c.1462A>T (p.Thr488Ser) c.1003A>T (p.Thr335Ser) c.532A>T (p.Thr178Ser) n.1964A>T n.2131A>T c.1879A>T (p.Thr627Ser) c.571A>T (p.Thr191Ser) n.2181A>T n.2154A>T | |
8 | g.141168286C>A | CA372344074 | DENND3 | c.2036C>A (p.Thr679Lys) c.1796C>A (p.Thr599Lys) c.1640C>A (p.Thr547Lys) c.1809C>A n.1577C>A c.1835C>A (p.Thr612Lys) c.1679C>A (p.Thr560Lys) c.1802C>A (p.Thr601Lys) c.1292C>A (p.Thr431Lys) c.1469C>A (p.Thr490Lys) c.1463C>A (p.Thr488Lys) c.1004C>A (p.Thr335Lys) c.533C>A (p.Thr178Lys) n.1965C>A n.2132C>A c.1880C>A (p.Thr627Lys) c.572C>A (p.Thr191Lys) n.2182C>A n.2155C>A | |
8 | g.141168286C>G | CA372344075 | DENND3 | c.2036C>G (p.Thr679Arg) c.1796C>G (p.Thr599Arg) c.1640C>G (p.Thr547Arg) c.1809C>G n.1577C>G c.1835C>G (p.Thr612Arg) c.1679C>G (p.Thr560Arg) c.1802C>G (p.Thr601Arg) c.1292C>G (p.Thr431Arg) c.1469C>G (p.Thr490Arg) c.1463C>G (p.Thr488Arg) c.1004C>G (p.Thr335Arg) c.533C>G (p.Thr178Arg) n.1965C>G n.2132C>G c.1880C>G (p.Thr627Arg) c.572C>G (p.Thr191Arg) n.2182C>G n.2155C>G | |
8 | g.141168286C>T | CA4896795 | DENND3 | c.2036C>T (p.Thr679Met) c.1796C>T (p.Thr599Met) c.1640C>T (p.Thr547Met) c.1809C>T n.1577C>T c.1835C>T (p.Thr612Met) c.1679C>T (p.Thr560Met) c.1802C>T (p.Thr601Met) c.1292C>T (p.Thr431Met) c.1469C>T (p.Thr490Met) c.1463C>T (p.Thr488Met) c.1004C>T (p.Thr335Met) c.533C>T (p.Thr178Met) n.1965C>T n.2132C>T c.1880C>T (p.Thr627Met) c.572C>T (p.Thr191Met) n.2182C>T n.2155C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168287G>A | CA4896796 | DENND3 | c.2037G>A (p.Thr679=) c.1797G>A (p.Thr599=) c.1641G>A (p.Thr547=) c.1810G>A n.1578G>A c.1836G>A (p.Thr612=) c.1680G>A (p.Thr560=) c.1803G>A (p.Thr601=) c.1293G>A (p.Thr431=) c.1470G>A (p.Thr490=) c.1464G>A (p.Thr488=) c.1005G>A (p.Thr335=) c.534G>A (p.Thr178=) n.1966G>A n.2133G>A c.1881G>A (p.Thr627=) c.573G>A (p.Thr191=) n.2183G>A n.2156G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168287G>C | CA463493864 | DENND3 | c.2037G>C (p.Thr679=) c.1797G>C (p.Thr599=) c.1641G>C (p.Thr547=) c.1810G>C n.1578G>C c.1836G>C (p.Thr612=) c.1680G>C (p.Thr560=) c.1803G>C (p.Thr601=) c.1293G>C (p.Thr431=) c.1470G>C (p.Thr490=) c.1464G>C (p.Thr488=) c.1005G>C (p.Thr335=) c.534G>C (p.Thr178=) n.1966G>C n.2133G>C c.1881G>C (p.Thr627=) c.573G>C (p.Thr191=) n.2183G>C n.2156G>C | |
8 | g.141168287G>T | CA463493866 | DENND3 | c.2037G>T (p.Thr679=) c.1797G>T (p.Thr599=) c.1641G>T (p.Thr547=) c.1810G>T n.1578G>T c.1836G>T (p.Thr612=) c.1680G>T (p.Thr560=) c.1803G>T (p.Thr601=) c.1293G>T (p.Thr431=) c.1470G>T (p.Thr490=) c.1464G>T (p.Thr488=) c.1005G>T (p.Thr335=) c.534G>T (p.Thr178=) n.1966G>T n.2133G>T c.1881G>T (p.Thr627=) c.573G>T (p.Thr191=) n.2183G>T n.2156G>T | gnomAD v4 |
8 | g.141168288G>A | CA372344076 | DENND3 | c.2038G>A (p.Val680Met) c.1798G>A (p.Val600Met) c.1642G>A (p.Val548Met) c.1811G>A n.1579G>A c.1837G>A (p.Val613Met) c.1681G>A (p.Val561Met) c.1804G>A (p.Val602Met) c.1294G>A (p.Val432Met) c.1471G>A (p.Val491Met) c.1465G>A (p.Val489Met) c.1006G>A (p.Val336Met) c.535G>A (p.Val179Met) n.1967G>A n.2134G>A c.1882G>A (p.Val628Met) c.574G>A (p.Val192Met) n.2184G>A n.2157G>A | COSMIC |
8 | g.141168288G>C | CA372344077 | DENND3 | c.2038G>C (p.Val680Leu) c.1798G>C (p.Val600Leu) c.1642G>C (p.Val548Leu) c.1811G>C n.1579G>C c.1837G>C (p.Val613Leu) c.1681G>C (p.Val561Leu) c.1804G>C (p.Val602Leu) c.1294G>C (p.Val432Leu) c.1471G>C (p.Val491Leu) c.1465G>C (p.Val489Leu) c.1006G>C (p.Val336Leu) c.535G>C (p.Val179Leu) n.1967G>C n.2134G>C c.1882G>C (p.Val628Leu) c.574G>C (p.Val192Leu) n.2184G>C n.2157G>C | |
8 | g.141168288G>T | CA372344078 | DENND3 | c.2038G>T (p.Val680Leu) c.1798G>T (p.Val600Leu) c.1642G>T (p.Val548Leu) c.1811G>T n.1579G>T c.1837G>T (p.Val613Leu) c.1681G>T (p.Val561Leu) c.1804G>T (p.Val602Leu) c.1294G>T (p.Val432Leu) c.1471G>T (p.Val491Leu) c.1465G>T (p.Val489Leu) c.1006G>T (p.Val336Leu) c.535G>T (p.Val179Leu) n.1967G>T n.2134G>T c.1882G>T (p.Val628Leu) c.574G>T (p.Val192Leu) n.2184G>T n.2157G>T | |
8 | g.141168289T>A | CA372344081 | DENND3 | c.2039T>A (p.Val680Glu) c.1799T>A (p.Val600Glu) c.1643T>A (p.Val548Glu) c.1812T>A n.1580T>A c.1838T>A (p.Val613Glu) c.1682T>A (p.Val561Glu) c.1805T>A (p.Val602Glu) c.1295T>A (p.Val432Glu) c.1472T>A (p.Val491Glu) c.1466T>A (p.Val489Glu) c.1007T>A (p.Val336Glu) c.536T>A (p.Val179Glu) n.1968T>A n.2135T>A c.1883T>A (p.Val628Glu) c.575T>A (p.Val192Glu) n.2185T>A n.2158T>A | |
8 | g.141168289T>C | CA372344080 | DENND3 | c.2039T>C (p.Val680Ala) c.1799T>C (p.Val600Ala) c.1643T>C (p.Val548Ala) c.1812T>C n.1580T>C c.1838T>C (p.Val613Ala) c.1682T>C (p.Val561Ala) c.1805T>C (p.Val602Ala) c.1295T>C (p.Val432Ala) c.1472T>C (p.Val491Ala) c.1466T>C (p.Val489Ala) c.1007T>C (p.Val336Ala) c.536T>C (p.Val179Ala) n.1968T>C n.2135T>C c.1883T>C (p.Val628Ala) c.575T>C (p.Val192Ala) n.2185T>C n.2158T>C | |
8 | g.141168289T>G | CA372344079 | DENND3 | c.2039T>G (p.Val680Gly) c.1799T>G (p.Val600Gly) c.1643T>G (p.Val548Gly) c.1812T>G n.1580T>G c.1838T>G (p.Val613Gly) c.1682T>G (p.Val561Gly) c.1805T>G (p.Val602Gly) c.1295T>G (p.Val432Gly) c.1472T>G (p.Val491Gly) c.1466T>G (p.Val489Gly) c.1007T>G (p.Val336Gly) c.536T>G (p.Val179Gly) n.1968T>G n.2135T>G c.1883T>G (p.Val628Gly) c.575T>G (p.Val192Gly) n.2185T>G n.2158T>G | |
8 | g.141168290G>A | CA463493876 | DENND3 | c.2040G>A (p.Val680=) c.1800G>A (p.Val600=) c.1644G>A (p.Val548=) c.1813G>A n.1581G>A c.1839G>A (p.Val613=) c.1683G>A (p.Val561=) c.1806G>A (p.Val602=) c.1296G>A (p.Val432=) c.1473G>A (p.Val491=) c.1467G>A (p.Val489=) c.1008G>A (p.Val336=) c.537G>A (p.Val179=) n.1969G>A n.2136G>A c.1884G>A (p.Val628=) c.576G>A (p.Val192=) n.2186G>A n.2159G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168290G>C | CA463493878 | DENND3 | c.2040G>C (p.Val680=) c.1800G>C (p.Val600=) c.1644G>C (p.Val548=) c.1813G>C n.1581G>C c.1839G>C (p.Val613=) c.1683G>C (p.Val561=) c.1806G>C (p.Val602=) c.1296G>C (p.Val432=) c.1473G>C (p.Val491=) c.1467G>C (p.Val489=) c.1008G>C (p.Val336=) c.537G>C (p.Val179=) n.1969G>C n.2136G>C c.1884G>C (p.Val628=) c.576G>C (p.Val192=) n.2186G>C n.2159G>C | |
8 | g.141168290G>T | CA463493880 | DENND3 | c.2040G>T (p.Val680=) c.1800G>T (p.Val600=) c.1644G>T (p.Val548=) c.1813G>T n.1581G>T c.1839G>T (p.Val613=) c.1683G>T (p.Val561=) c.1806G>T (p.Val602=) c.1296G>T (p.Val432=) c.1473G>T (p.Val491=) c.1467G>T (p.Val489=) c.1008G>T (p.Val336=) c.537G>T (p.Val179=) n.1969G>T n.2136G>T c.1884G>T (p.Val628=) c.576G>T (p.Val192=) n.2186G>T n.2159G>T | |
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 |