Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.141168123A>C | CA372343722 | DENND3 | c.1873A>C (p.Met625Leu) c.1633A>C (p.Met545Leu) c.1477A>C (p.Met493Leu) c.1646A>C n.1414A>C c.1672A>C (p.Met558Leu) c.1516A>C (p.Met506Leu) c.1639A>C (p.Met547Leu) c.1129A>C (p.Met377Leu) c.1306A>C (p.Met436Leu) c.1300A>C (p.Met434Leu) c.841A>C (p.Met281Leu) c.370A>C (p.Met124Leu) n.1802A>C n.1969A>C c.1717A>C (p.Met573Leu) c.409A>C (p.Met137Leu) n.2019A>C n.1992A>C | |
8 | g.141168123A>G | CA4896764 | DENND3 | c.1873A>G (p.Met625Val) c.1633A>G (p.Met545Val) c.1477A>G (p.Met493Val) c.1646A>G n.1414A>G c.1672A>G (p.Met558Val) c.1516A>G (p.Met506Val) c.1639A>G (p.Met547Val) c.1129A>G (p.Met377Val) c.1306A>G (p.Met436Val) c.1300A>G (p.Met434Val) c.841A>G (p.Met281Val) c.370A>G (p.Met124Val) n.1802A>G n.1969A>G c.1717A>G (p.Met573Val) c.409A>G (p.Met137Val) n.2019A>G n.1992A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168123A>T | CA372343723 | DENND3 | c.1873A>T (p.Met625Leu) c.1633A>T (p.Met545Leu) c.1477A>T (p.Met493Leu) c.1646A>T n.1414A>T c.1672A>T (p.Met558Leu) c.1516A>T (p.Met506Leu) c.1639A>T (p.Met547Leu) c.1129A>T (p.Met377Leu) c.1306A>T (p.Met436Leu) c.1300A>T (p.Met434Leu) c.841A>T (p.Met281Leu) c.370A>T (p.Met124Leu) n.1802A>T n.1969A>T c.1717A>T (p.Met573Leu) c.409A>T (p.Met137Leu) n.2019A>T n.1992A>T | |
8 | g.141168124T>A | CA372343724 | DENND3 | c.1874T>A (p.Met625Lys) c.1634T>A (p.Met545Lys) c.1478T>A (p.Met493Lys) c.1647T>A n.1415T>A c.1673T>A (p.Met558Lys) c.1517T>A (p.Met506Lys) c.1640T>A (p.Met547Lys) c.1130T>A (p.Met377Lys) c.1307T>A (p.Met436Lys) c.1301T>A (p.Met434Lys) c.842T>A (p.Met281Lys) c.371T>A (p.Met124Lys) n.1803T>A n.1970T>A c.1718T>A (p.Met573Lys) c.410T>A (p.Met137Lys) n.2020T>A n.1993T>A | |
8 | g.141168124T>C | CA4896765 | DENND3 | c.1874T>C (p.Met625Thr) c.1634T>C (p.Met545Thr) c.1478T>C (p.Met493Thr) c.1647T>C n.1415T>C c.1673T>C (p.Met558Thr) c.1517T>C (p.Met506Thr) c.1640T>C (p.Met547Thr) c.1130T>C (p.Met377Thr) c.1307T>C (p.Met436Thr) c.1301T>C (p.Met434Thr) c.842T>C (p.Met281Thr) c.371T>C (p.Met124Thr) n.1803T>C n.1970T>C c.1718T>C (p.Met573Thr) c.410T>C (p.Met137Thr) n.2020T>C n.1993T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168124T>G | CA372343725 | DENND3 | c.1874T>G (p.Met625Arg) c.1634T>G (p.Met545Arg) c.1478T>G (p.Met493Arg) c.1647T>G n.1415T>G c.1673T>G (p.Met558Arg) c.1517T>G (p.Met506Arg) c.1640T>G (p.Met547Arg) c.1130T>G (p.Met377Arg) c.1307T>G (p.Met436Arg) c.1301T>G (p.Met434Arg) c.842T>G (p.Met281Arg) c.371T>G (p.Met124Arg) n.1803T>G n.1970T>G c.1718T>G (p.Met573Arg) c.410T>G (p.Met137Arg) n.2020T>G n.1993T>G | |
8 | g.141168125G>A | CA372343726 | DENND3 | c.1875G>A (p.Met625Ile) c.1635G>A (p.Met545Ile) c.1479G>A (p.Met493Ile) c.1648G>A n.1416G>A c.1674G>A (p.Met558Ile) c.1518G>A (p.Met506Ile) c.1641G>A (p.Met547Ile) c.1131G>A (p.Met377Ile) c.1308G>A (p.Met436Ile) c.1302G>A (p.Met434Ile) c.843G>A (p.Met281Ile) c.372G>A (p.Met124Ile) n.1804G>A n.1971G>A c.1719G>A (p.Met573Ile) c.411G>A (p.Met137Ile) n.2021G>A n.1994G>A | |
8 | g.141168125G>C | CA372343728 | DENND3 | c.1875G>C (p.Met625Ile) c.1635G>C (p.Met545Ile) c.1479G>C (p.Met493Ile) c.1648G>C n.1416G>C c.1674G>C (p.Met558Ile) c.1518G>C (p.Met506Ile) c.1641G>C (p.Met547Ile) c.1131G>C (p.Met377Ile) c.1308G>C (p.Met436Ile) c.1302G>C (p.Met434Ile) c.843G>C (p.Met281Ile) c.372G>C (p.Met124Ile) n.1804G>C n.1971G>C c.1719G>C (p.Met573Ile) c.411G>C (p.Met137Ile) n.2021G>C n.1994G>C | |
8 | g.141168125G>T | CA372343727 | DENND3 | c.1875G>T (p.Met625Ile) c.1635G>T (p.Met545Ile) c.1479G>T (p.Met493Ile) c.1648G>T n.1416G>T c.1674G>T (p.Met558Ile) c.1518G>T (p.Met506Ile) c.1641G>T (p.Met547Ile) c.1131G>T (p.Met377Ile) c.1308G>T (p.Met436Ile) c.1302G>T (p.Met434Ile) c.843G>T (p.Met281Ile) c.372G>T (p.Met124Ile) n.1804G>T n.1971G>T c.1719G>T (p.Met573Ile) c.411G>T (p.Met137Ile) n.2021G>T n.1994G>T | ClinVar |
8 | g.141168126T>A | CA372343729 | DENND3 | c.1876T>A (p.Cys626Ser) c.1636T>A (p.Cys546Ser) c.1480T>A (p.Cys494Ser) c.1649T>A n.1417T>A c.1675T>A (p.Cys559Ser) c.1519T>A (p.Cys507Ser) c.1642T>A (p.Cys548Ser) c.1132T>A (p.Cys378Ser) c.1309T>A (p.Cys437Ser) c.1303T>A (p.Cys435Ser) c.844T>A (p.Cys282Ser) c.373T>A (p.Cys125Ser) n.1805T>A n.1972T>A c.1720T>A (p.Cys574Ser) c.412T>A (p.Cys138Ser) n.2022T>A n.1995T>A | |
8 | g.141168126T>C | CA372343730 | DENND3 | c.1876T>C (p.Cys626Arg) c.1636T>C (p.Cys546Arg) c.1480T>C (p.Cys494Arg) c.1649T>C n.1417T>C c.1675T>C (p.Cys559Arg) c.1519T>C (p.Cys507Arg) c.1642T>C (p.Cys548Arg) c.1132T>C (p.Cys378Arg) c.1309T>C (p.Cys437Arg) c.1303T>C (p.Cys435Arg) c.844T>C (p.Cys282Arg) c.373T>C (p.Cys125Arg) n.1805T>C n.1972T>C c.1720T>C (p.Cys574Arg) c.412T>C (p.Cys138Arg) n.2022T>C n.1995T>C | |
8 | g.141168126T>G | CA372343731 | DENND3 | c.1876T>G (p.Cys626Gly) c.1636T>G (p.Cys546Gly) c.1480T>G (p.Cys494Gly) c.1649T>G n.1417T>G c.1675T>G (p.Cys559Gly) c.1519T>G (p.Cys507Gly) c.1642T>G (p.Cys548Gly) c.1132T>G (p.Cys378Gly) c.1309T>G (p.Cys437Gly) c.1303T>G (p.Cys435Gly) c.844T>G (p.Cys282Gly) c.373T>G (p.Cys125Gly) n.1805T>G n.1972T>G c.1720T>G (p.Cys574Gly) c.412T>G (p.Cys138Gly) n.2022T>G n.1995T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168127G>A | CA372343732 | DENND3 | c.1877G>A (p.Cys626Tyr) c.1637G>A (p.Cys546Tyr) c.1481G>A (p.Cys494Tyr) c.1650G>A n.1418G>A c.1676G>A (p.Cys559Tyr) c.1520G>A (p.Cys507Tyr) c.1643G>A (p.Cys548Tyr) c.1133G>A (p.Cys378Tyr) c.1310G>A (p.Cys437Tyr) c.1304G>A (p.Cys435Tyr) c.845G>A (p.Cys282Tyr) c.374G>A (p.Cys125Tyr) n.1806G>A n.1973G>A c.1721G>A (p.Cys574Tyr) c.413G>A (p.Cys138Tyr) n.2023G>A n.1996G>A | gnomAD v4 |
8 | g.141168127G>C | CA4896766 | DENND3 | c.1877G>C (p.Cys626Ser) c.1637G>C (p.Cys546Ser) c.1481G>C (p.Cys494Ser) c.1650G>C n.1418G>C c.1676G>C (p.Cys559Ser) c.1520G>C (p.Cys507Ser) c.1643G>C (p.Cys548Ser) c.1133G>C (p.Cys378Ser) c.1310G>C (p.Cys437Ser) c.1304G>C (p.Cys435Ser) c.845G>C (p.Cys282Ser) c.374G>C (p.Cys125Ser) n.1806G>C n.1973G>C c.1721G>C (p.Cys574Ser) c.413G>C (p.Cys138Ser) n.2023G>C n.1996G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168127G>T | CA372343733 | DENND3 | c.1877G>T (p.Cys626Phe) c.1637G>T (p.Cys546Phe) c.1481G>T (p.Cys494Phe) c.1650G>T n.1418G>T c.1676G>T (p.Cys559Phe) c.1520G>T (p.Cys507Phe) c.1643G>T (p.Cys548Phe) c.1133G>T (p.Cys378Phe) c.1310G>T (p.Cys437Phe) c.1304G>T (p.Cys435Phe) c.845G>T (p.Cys282Phe) c.374G>T (p.Cys125Phe) n.1806G>T n.1973G>T c.1721G>T (p.Cys574Phe) c.413G>T (p.Cys138Phe) n.2023G>T n.1996G>T | |
8 | g.141168128C>A | CA372343734 | DENND3 | c.1878C>A (p.Cys626Ter) c.1638C>A (p.Cys546Ter) c.1482C>A (p.Cys494Ter) c.1651C>A n.1419C>A c.1677C>A (p.Cys559Ter) c.1521C>A (p.Cys507Ter) c.1644C>A (p.Cys548Ter) c.1134C>A (p.Cys378Ter) c.1311C>A (p.Cys437Ter) c.1305C>A (p.Cys435Ter) c.846C>A (p.Cys282Ter) c.375C>A (p.Cys125Ter) n.1807C>A n.1974C>A c.1722C>A (p.Cys574Ter) c.414C>A (p.Cys138Ter) n.2024C>A n.1997C>A | |
8 | g.141168128C>G | CA372343735 | DENND3 | c.1878C>G (p.Cys626Trp) c.1638C>G (p.Cys546Trp) c.1482C>G (p.Cys494Trp) c.1651C>G n.1419C>G c.1677C>G (p.Cys559Trp) c.1521C>G (p.Cys507Trp) c.1644C>G (p.Cys548Trp) c.1134C>G (p.Cys378Trp) c.1311C>G (p.Cys437Trp) c.1305C>G (p.Cys435Trp) c.846C>G (p.Cys282Trp) c.375C>G (p.Cys125Trp) n.1807C>G n.1974C>G c.1722C>G (p.Cys574Trp) c.414C>G (p.Cys138Trp) n.2024C>G n.1997C>G | |
8 | g.141168128C>T | CA463493257 | DENND3 | c.1878C>T (p.Cys626=) c.1638C>T (p.Cys546=) c.1482C>T (p.Cys494=) c.1651C>T n.1419C>T c.1677C>T (p.Cys559=) c.1521C>T (p.Cys507=) c.1644C>T (p.Cys548=) c.1134C>T (p.Cys378=) c.1311C>T (p.Cys437=) c.1305C>T (p.Cys435=) c.846C>T (p.Cys282=) c.375C>T (p.Cys125=) n.1807C>T n.1974C>T c.1722C>T (p.Cys574=) c.414C>T (p.Cys138=) n.2024C>T n.1997C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168129T>A | CA372343736 | DENND3 | c.1879T>A (p.Phe627Ile) c.1639T>A (p.Phe547Ile) c.1483T>A (p.Phe495Ile) c.1652T>A n.1420T>A c.1678T>A (p.Phe560Ile) c.1522T>A (p.Phe508Ile) c.1645T>A (p.Phe549Ile) c.1135T>A (p.Phe379Ile) c.1312T>A (p.Phe438Ile) c.1306T>A (p.Phe436Ile) c.847T>A (p.Phe283Ile) c.376T>A (p.Phe126Ile) n.1808T>A n.1975T>A c.1723T>A (p.Phe575Ile) c.415T>A (p.Phe139Ile) n.2025T>A n.1998T>A | dbSNP |
8 | g.141168129T>C | CA372343737 | DENND3 | c.1879T>C (p.Phe627Leu) c.1639T>C (p.Phe547Leu) c.1483T>C (p.Phe495Leu) c.1652T>C n.1420T>C c.1678T>C (p.Phe560Leu) c.1522T>C (p.Phe508Leu) c.1645T>C (p.Phe549Leu) c.1135T>C (p.Phe379Leu) c.1312T>C (p.Phe438Leu) c.1306T>C (p.Phe436Leu) c.847T>C (p.Phe283Leu) c.376T>C (p.Phe126Leu) n.1808T>C n.1975T>C c.1723T>C (p.Phe575Leu) c.415T>C (p.Phe139Leu) n.2025T>C n.1998T>C | |
8 | g.141168129T>G | CA372343738 | DENND3 | c.1879T>G (p.Phe627Val) c.1639T>G (p.Phe547Val) c.1483T>G (p.Phe495Val) c.1652T>G n.1420T>G c.1678T>G (p.Phe560Val) c.1522T>G (p.Phe508Val) c.1645T>G (p.Phe549Val) c.1135T>G (p.Phe379Val) c.1312T>G (p.Phe438Val) c.1306T>G (p.Phe436Val) c.847T>G (p.Phe283Val) c.376T>G (p.Phe126Val) n.1808T>G n.1975T>G c.1723T>G (p.Phe575Val) c.415T>G (p.Phe139Val) n.2025T>G n.1998T>G | |
8 | g.141168130T>A | CA372343741 | DENND3 | c.1880T>A (p.Phe627Tyr) c.1640T>A (p.Phe547Tyr) c.1484T>A (p.Phe495Tyr) c.1653T>A n.1421T>A c.1679T>A (p.Phe560Tyr) c.1523T>A (p.Phe508Tyr) c.1646T>A (p.Phe549Tyr) c.1136T>A (p.Phe379Tyr) c.1313T>A (p.Phe438Tyr) c.1307T>A (p.Phe436Tyr) c.848T>A (p.Phe283Tyr) c.377T>A (p.Phe126Tyr) n.1809T>A n.1976T>A c.1724T>A (p.Phe575Tyr) c.416T>A (p.Phe139Tyr) n.2026T>A n.1999T>A | |
8 | g.141168130T>C | CA372343739 | DENND3 | c.1880T>C (p.Phe627Ser) c.1640T>C (p.Phe547Ser) c.1484T>C (p.Phe495Ser) c.1653T>C n.1421T>C c.1679T>C (p.Phe560Ser) c.1523T>C (p.Phe508Ser) c.1646T>C (p.Phe549Ser) c.1136T>C (p.Phe379Ser) c.1313T>C (p.Phe438Ser) c.1307T>C (p.Phe436Ser) c.848T>C (p.Phe283Ser) c.377T>C (p.Phe126Ser) n.1809T>C n.1976T>C c.1724T>C (p.Phe575Ser) c.416T>C (p.Phe139Ser) n.2026T>C n.1999T>C | |
8 | g.141168130T>G | CA372343740 | DENND3 | c.1880T>G (p.Phe627Cys) c.1640T>G (p.Phe547Cys) c.1484T>G (p.Phe495Cys) c.1653T>G n.1421T>G c.1679T>G (p.Phe560Cys) c.1523T>G (p.Phe508Cys) c.1646T>G (p.Phe549Cys) c.1136T>G (p.Phe379Cys) c.1313T>G (p.Phe438Cys) c.1307T>G (p.Phe436Cys) c.848T>G (p.Phe283Cys) c.377T>G (p.Phe126Cys) n.1809T>G n.1976T>G c.1724T>G (p.Phe575Cys) c.416T>G (p.Phe139Cys) n.2026T>G n.1999T>G | |
8 | g.141168131T>A | CA372343742 | DENND3 | c.1881T>A (p.Phe627Leu) c.1641T>A (p.Phe547Leu) c.1485T>A (p.Phe495Leu) c.1654T>A n.1422T>A c.1680T>A (p.Phe560Leu) c.1524T>A (p.Phe508Leu) c.1647T>A (p.Phe549Leu) c.1137T>A (p.Phe379Leu) c.1314T>A (p.Phe438Leu) c.1308T>A (p.Phe436Leu) c.849T>A (p.Phe283Leu) c.378T>A (p.Phe126Leu) n.1810T>A n.1977T>A c.1725T>A (p.Phe575Leu) c.417T>A (p.Phe139Leu) n.2027T>A n.2000T>A | |
8 | g.141168131T>C | CA463493258 | DENND3 | c.1881T>C (p.Phe627=) c.1641T>C (p.Phe547=) c.1485T>C (p.Phe495=) c.1654T>C n.1422T>C c.1680T>C (p.Phe560=) c.1524T>C (p.Phe508=) c.1647T>C (p.Phe549=) c.1137T>C (p.Phe379=) c.1314T>C (p.Phe438=) c.1308T>C (p.Phe436=) c.849T>C (p.Phe283=) c.378T>C (p.Phe126=) n.1810T>C n.1977T>C c.1725T>C (p.Phe575=) c.417T>C (p.Phe139=) n.2027T>C n.2000T>C | |
8 | g.141168131T>G | CA372343743 | DENND3 | c.1881T>G (p.Phe627Leu) c.1641T>G (p.Phe547Leu) c.1485T>G (p.Phe495Leu) c.1654T>G n.1422T>G c.1680T>G (p.Phe560Leu) c.1524T>G (p.Phe508Leu) c.1647T>G (p.Phe549Leu) c.1137T>G (p.Phe379Leu) c.1314T>G (p.Phe438Leu) c.1308T>G (p.Phe436Leu) c.849T>G (p.Phe283Leu) c.378T>G (p.Phe126Leu) n.1810T>G n.1977T>G c.1725T>G (p.Phe575Leu) c.417T>G (p.Phe139Leu) n.2027T>G n.2000T>G | |
8 | g.141168132C>A | CA372343744 | DENND3 | c.1882C>A (p.Leu628Met) c.1642C>A (p.Leu548Met) c.1486C>A (p.Leu496Met) c.1655C>A n.1423C>A c.1681C>A (p.Leu561Met) c.1525C>A (p.Leu509Met) c.1648C>A (p.Leu550Met) c.1138C>A (p.Leu380Met) c.1315C>A (p.Leu439Met) c.1309C>A (p.Leu437Met) c.850C>A (p.Leu284Met) c.379C>A (p.Leu127Met) n.1811C>A n.1978C>A c.1726C>A (p.Leu576Met) c.418C>A (p.Leu140Met) n.2028C>A n.2001C>A | |
8 | g.141168132C>G | CA372343745 | DENND3 | c.1882C>G (p.Leu628Val) c.1642C>G (p.Leu548Val) c.1486C>G (p.Leu496Val) c.1655C>G n.1423C>G c.1681C>G (p.Leu561Val) c.1525C>G (p.Leu509Val) c.1648C>G (p.Leu550Val) c.1138C>G (p.Leu380Val) c.1315C>G (p.Leu439Val) c.1309C>G (p.Leu437Val) c.850C>G (p.Leu284Val) c.379C>G (p.Leu127Val) n.1811C>G n.1978C>G c.1726C>G (p.Leu576Val) c.418C>G (p.Leu140Val) n.2028C>G n.2001C>G | |
8 | g.141168132C>T | CA463493259 | DENND3 | c.1882C>T (p.Leu628=) c.1642C>T (p.Leu548=) c.1486C>T (p.Leu496=) c.1655C>T n.1423C>T c.1681C>T (p.Leu561=) c.1525C>T (p.Leu509=) c.1648C>T (p.Leu550=) c.1138C>T (p.Leu380=) c.1315C>T (p.Leu439=) c.1309C>T (p.Leu437=) c.850C>T (p.Leu284=) c.379C>T (p.Leu127=) n.1811C>T n.1978C>T c.1726C>T (p.Leu576=) c.418C>T (p.Leu140=) n.2028C>T n.2001C>T | |
8 | g.141168133T>A | CA372343746 | DENND3 | c.1883T>A (p.Leu628Gln) c.1643T>A (p.Leu548Gln) c.1487T>A (p.Leu496Gln) c.1656T>A n.1424T>A c.1682T>A (p.Leu561Gln) c.1526T>A (p.Leu509Gln) c.1649T>A (p.Leu550Gln) c.1139T>A (p.Leu380Gln) c.1316T>A (p.Leu439Gln) c.1310T>A (p.Leu437Gln) c.851T>A (p.Leu284Gln) c.380T>A (p.Leu127Gln) n.1812T>A n.1979T>A c.1727T>A (p.Leu576Gln) c.419T>A (p.Leu140Gln) n.2029T>A n.2002T>A | |
8 | g.141168133T>C | CA372343747 | DENND3 | c.1883T>C (p.Leu628Pro) c.1643T>C (p.Leu548Pro) c.1487T>C (p.Leu496Pro) c.1656T>C n.1424T>C c.1682T>C (p.Leu561Pro) c.1526T>C (p.Leu509Pro) c.1649T>C (p.Leu550Pro) c.1139T>C (p.Leu380Pro) c.1316T>C (p.Leu439Pro) c.1310T>C (p.Leu437Pro) c.851T>C (p.Leu284Pro) c.380T>C (p.Leu127Pro) n.1812T>C n.1979T>C c.1727T>C (p.Leu576Pro) c.419T>C (p.Leu140Pro) n.2029T>C n.2002T>C | |
8 | g.141168133T>G | CA372343748 | DENND3 | c.1883T>G (p.Leu628Arg) c.1643T>G (p.Leu548Arg) c.1487T>G (p.Leu496Arg) c.1656T>G n.1424T>G c.1682T>G (p.Leu561Arg) c.1526T>G (p.Leu509Arg) c.1649T>G (p.Leu550Arg) c.1139T>G (p.Leu380Arg) c.1316T>G (p.Leu439Arg) c.1310T>G (p.Leu437Arg) c.851T>G (p.Leu284Arg) c.380T>G (p.Leu127Arg) n.1812T>G n.1979T>G c.1727T>G (p.Leu576Arg) c.419T>G (p.Leu140Arg) n.2029T>G n.2002T>G | |
8 | g.141168134G>A | CA463493262 | DENND3 | c.1884G>A (p.Leu628=) c.1644G>A (p.Leu548=) c.1488G>A (p.Leu496=) c.1657G>A n.1425G>A c.1683G>A (p.Leu561=) c.1527G>A (p.Leu509=) c.1650G>A (p.Leu550=) c.1140G>A (p.Leu380=) c.1317G>A (p.Leu439=) c.1311G>A (p.Leu437=) c.852G>A (p.Leu284=) c.381G>A (p.Leu127=) n.1813G>A n.1980G>A c.1728G>A (p.Leu576=) c.420G>A (p.Leu140=) n.2030G>A n.2003G>A | |
8 | g.141168134G>C | CA463493261 | DENND3 | c.1884G>C (p.Leu628=) c.1644G>C (p.Leu548=) c.1488G>C (p.Leu496=) c.1657G>C n.1425G>C c.1683G>C (p.Leu561=) c.1527G>C (p.Leu509=) c.1650G>C (p.Leu550=) c.1140G>C (p.Leu380=) c.1317G>C (p.Leu439=) c.1311G>C (p.Leu437=) c.852G>C (p.Leu284=) c.381G>C (p.Leu127=) n.1813G>C n.1980G>C c.1728G>C (p.Leu576=) c.420G>C (p.Leu140=) n.2030G>C n.2003G>C | |
8 | g.141168134G>T | CA463493260 | DENND3 | c.1884G>T (p.Leu628=) c.1644G>T (p.Leu548=) c.1488G>T (p.Leu496=) c.1657G>T n.1425G>T c.1683G>T (p.Leu561=) c.1527G>T (p.Leu509=) c.1650G>T (p.Leu550=) c.1140G>T (p.Leu380=) c.1317G>T (p.Leu439=) c.1311G>T (p.Leu437=) c.852G>T (p.Leu284=) c.381G>T (p.Leu127=) n.1813G>T n.1980G>T c.1728G>T (p.Leu576=) c.420G>T (p.Leu140=) n.2030G>T n.2003G>T | |
8 | g.141168135G>A | CA4896767 | DENND3 | c.1885G>A (p.Ala629Thr) c.1645G>A (p.Ala549Thr) c.1489G>A (p.Ala497Thr) c.1658G>A n.1426G>A c.1684G>A (p.Ala562Thr) c.1528G>A (p.Ala510Thr) c.1651G>A (p.Ala551Thr) c.1141G>A (p.Ala381Thr) c.1318G>A (p.Ala440Thr) c.1312G>A (p.Ala438Thr) c.853G>A (p.Ala285Thr) c.382G>A (p.Ala128Thr) n.1814G>A n.1981G>A c.1729G>A (p.Ala577Thr) c.421G>A (p.Ala141Thr) n.2031G>A n.2004G>A | dbSNP ExAC gnomAD v2 |
8 | g.141168135G>C | CA372343749 | DENND3 | c.1885G>C (p.Ala629Pro) c.1645G>C (p.Ala549Pro) c.1489G>C (p.Ala497Pro) c.1658G>C n.1426G>C c.1684G>C (p.Ala562Pro) c.1528G>C (p.Ala510Pro) c.1651G>C (p.Ala551Pro) c.1141G>C (p.Ala381Pro) c.1318G>C (p.Ala440Pro) c.1312G>C (p.Ala438Pro) c.853G>C (p.Ala285Pro) c.382G>C (p.Ala128Pro) n.1814G>C n.1981G>C c.1729G>C (p.Ala577Pro) c.421G>C (p.Ala141Pro) n.2031G>C n.2004G>C | |
8 | g.141168135G>T | CA372343750 | DENND3 | c.1885G>T (p.Ala629Ser) c.1645G>T (p.Ala549Ser) c.1489G>T (p.Ala497Ser) c.1658G>T n.1426G>T c.1684G>T (p.Ala562Ser) c.1528G>T (p.Ala510Ser) c.1651G>T (p.Ala551Ser) c.1141G>T (p.Ala381Ser) c.1318G>T (p.Ala440Ser) c.1312G>T (p.Ala438Ser) c.853G>T (p.Ala285Ser) c.382G>T (p.Ala128Ser) n.1814G>T n.1981G>T c.1729G>T (p.Ala577Ser) c.421G>T (p.Ala141Ser) n.2031G>T n.2004G>T | |
8 | g.141168136C>A | CA372343752 | DENND3 | c.1886C>A (p.Ala629Asp) c.1646C>A (p.Ala549Asp) c.1490C>A (p.Ala497Asp) c.1659C>A n.1427C>A c.1685C>A (p.Ala562Asp) c.1529C>A (p.Ala510Asp) c.1652C>A (p.Ala551Asp) c.1142C>A (p.Ala381Asp) c.1319C>A (p.Ala440Asp) c.1313C>A (p.Ala438Asp) c.854C>A (p.Ala285Asp) c.383C>A (p.Ala128Asp) n.1815C>A n.1982C>A c.1730C>A (p.Ala577Asp) c.422C>A (p.Ala141Asp) n.2032C>A n.2005C>A | |
8 | g.141168136C>G | CA372343753 | DENND3 | c.1886C>G (p.Ala629Gly) c.1646C>G (p.Ala549Gly) c.1490C>G (p.Ala497Gly) c.1659C>G n.1427C>G c.1685C>G (p.Ala562Gly) c.1529C>G (p.Ala510Gly) c.1652C>G (p.Ala551Gly) c.1142C>G (p.Ala381Gly) c.1319C>G (p.Ala440Gly) c.1313C>G (p.Ala438Gly) c.854C>G (p.Ala285Gly) c.383C>G (p.Ala128Gly) n.1815C>G n.1982C>G c.1730C>G (p.Ala577Gly) c.422C>G (p.Ala141Gly) n.2032C>G n.2005C>G | |
8 | g.141168136C>T | CA372343751 | DENND3 | c.1886C>T (p.Ala629Val) c.1646C>T (p.Ala549Val) c.1490C>T (p.Ala497Val) c.1659C>T n.1427C>T c.1685C>T (p.Ala562Val) c.1529C>T (p.Ala510Val) c.1652C>T (p.Ala551Val) c.1142C>T (p.Ala381Val) c.1319C>T (p.Ala440Val) c.1313C>T (p.Ala438Val) c.854C>T (p.Ala285Val) c.383C>T (p.Ala128Val) n.1815C>T n.1982C>T c.1730C>T (p.Ala577Val) c.422C>T (p.Ala141Val) n.2032C>T n.2005C>T | gnomAD v4 |
8 | g.141168137C>A | CA463493263 | DENND3 | c.1887C>A (p.Ala629=) c.1647C>A (p.Ala549=) c.1491C>A (p.Ala497=) c.1660C>A n.1428C>A c.1686C>A (p.Ala562=) c.1530C>A (p.Ala510=) c.1653C>A (p.Ala551=) c.1143C>A (p.Ala381=) c.1320C>A (p.Ala440=) c.1314C>A (p.Ala438=) c.855C>A (p.Ala285=) c.384C>A (p.Ala128=) n.1816C>A n.1983C>A c.1731C>A (p.Ala577=) c.423C>A (p.Ala141=) n.2033C>A n.2006C>A | |
8 | g.141168137C>G | CA463493264 | DENND3 | c.1887C>G (p.Ala629=) c.1647C>G (p.Ala549=) c.1491C>G (p.Ala497=) c.1660C>G n.1428C>G c.1686C>G (p.Ala562=) c.1530C>G (p.Ala510=) c.1653C>G (p.Ala551=) c.1143C>G (p.Ala381=) c.1320C>G (p.Ala440=) c.1314C>G (p.Ala438=) c.855C>G (p.Ala285=) c.384C>G (p.Ala128=) n.1816C>G n.1983C>G c.1731C>G (p.Ala577=) c.423C>G (p.Ala141=) n.2033C>G n.2006C>G | |
8 | g.141168137C>T | CA463493265 | DENND3 | c.1887C>T (p.Ala629=) c.1647C>T (p.Ala549=) c.1491C>T (p.Ala497=) c.1660C>T n.1428C>T c.1686C>T (p.Ala562=) c.1530C>T (p.Ala510=) c.1653C>T (p.Ala551=) c.1143C>T (p.Ala381=) c.1320C>T (p.Ala440=) c.1314C>T (p.Ala438=) c.855C>T (p.Ala285=) c.384C>T (p.Ala128=) n.1816C>T n.1983C>T c.1731C>T (p.Ala577=) c.423C>T (p.Ala141=) n.2033C>T n.2006C>T | |
8 | g.141168138C>A | CA372343754 | DENND3 | c.1888C>A (p.Pro630Thr) c.1648C>A (p.Pro550Thr) c.1492C>A (p.Pro498Thr) c.1661C>A n.1429C>A c.1687C>A (p.Pro563Thr) c.1531C>A (p.Pro511Thr) c.1654C>A (p.Pro552Thr) c.1144C>A (p.Pro382Thr) c.1321C>A (p.Pro441Thr) c.1315C>A (p.Pro439Thr) c.856C>A (p.Pro286Thr) c.385C>A (p.Pro129Thr) n.1817C>A n.1984C>A c.1732C>A (p.Pro578Thr) c.424C>A (p.Pro142Thr) n.2034C>A n.2007C>A | |
8 | g.141168138C>G | CA372343755 | DENND3 | c.1888C>G (p.Pro630Ala) c.1648C>G (p.Pro550Ala) c.1492C>G (p.Pro498Ala) c.1661C>G n.1429C>G c.1687C>G (p.Pro563Ala) c.1531C>G (p.Pro511Ala) c.1654C>G (p.Pro552Ala) c.1144C>G (p.Pro382Ala) c.1321C>G (p.Pro441Ala) c.1315C>G (p.Pro439Ala) c.856C>G (p.Pro286Ala) c.385C>G (p.Pro129Ala) n.1817C>G n.1984C>G c.1732C>G (p.Pro578Ala) c.424C>G (p.Pro142Ala) n.2034C>G n.2007C>G | |
8 | g.141168138C>T | CA372343756 | DENND3 | c.1888C>T (p.Pro630Ser) c.1648C>T (p.Pro550Ser) c.1492C>T (p.Pro498Ser) c.1661C>T n.1429C>T c.1687C>T (p.Pro563Ser) c.1531C>T (p.Pro511Ser) c.1654C>T (p.Pro552Ser) c.1144C>T (p.Pro382Ser) c.1321C>T (p.Pro441Ser) c.1315C>T (p.Pro439Ser) c.856C>T (p.Pro286Ser) c.385C>T (p.Pro129Ser) n.1817C>T n.1984C>T c.1732C>T (p.Pro578Ser) c.424C>T (p.Pro142Ser) n.2034C>T n.2007C>T | |
8 | g.141168139C>A | CA372343757 | DENND3 | c.1889C>A (p.Pro630His) c.1649C>A (p.Pro550His) c.1493C>A (p.Pro498His) c.1662C>A n.1430C>A c.1688C>A (p.Pro563His) c.1532C>A (p.Pro511His) c.1655C>A (p.Pro552His) c.1145C>A (p.Pro382His) c.1322C>A (p.Pro441His) c.1316C>A (p.Pro439His) c.857C>A (p.Pro286His) c.386C>A (p.Pro129His) n.1818C>A n.1985C>A c.1733C>A (p.Pro578His) c.425C>A (p.Pro142His) n.2035C>A n.2008C>A | |
8 | g.141168139C>G | CA372343758 | DENND3 | c.1889C>G (p.Pro630Arg) c.1649C>G (p.Pro550Arg) c.1493C>G (p.Pro498Arg) c.1662C>G n.1430C>G c.1688C>G (p.Pro563Arg) c.1532C>G (p.Pro511Arg) c.1655C>G (p.Pro552Arg) c.1145C>G (p.Pro382Arg) c.1322C>G (p.Pro441Arg) c.1316C>G (p.Pro439Arg) c.857C>G (p.Pro286Arg) c.386C>G (p.Pro129Arg) n.1818C>G n.1985C>G c.1733C>G (p.Pro578Arg) c.425C>G (p.Pro142Arg) n.2035C>G n.2008C>G | |
8 | g.141168139C>T | CA372343759 | DENND3 | c.1889C>T (p.Pro630Leu) c.1649C>T (p.Pro550Leu) c.1493C>T (p.Pro498Leu) c.1662C>T n.1430C>T c.1688C>T (p.Pro563Leu) c.1532C>T (p.Pro511Leu) c.1655C>T (p.Pro552Leu) c.1145C>T (p.Pro382Leu) c.1322C>T (p.Pro441Leu) c.1316C>T (p.Pro439Leu) c.857C>T (p.Pro286Leu) c.386C>T (p.Pro129Leu) n.1818C>T n.1985C>T c.1733C>T (p.Pro578Leu) c.425C>T (p.Pro142Leu) n.2035C>T n.2008C>T | |
8 | g.141168140C>A | CA463493266 | DENND3 | c.1890C>A (p.Pro630=) c.1650C>A (p.Pro550=) c.1494C>A (p.Pro498=) c.1663C>A n.1431C>A c.1689C>A (p.Pro563=) c.1533C>A (p.Pro511=) c.1656C>A (p.Pro552=) c.1146C>A (p.Pro382=) c.1323C>A (p.Pro441=) c.1317C>A (p.Pro439=) c.858C>A (p.Pro286=) c.387C>A (p.Pro129=) n.1819C>A n.1986C>A c.1734C>A (p.Pro578=) c.426C>A (p.Pro142=) n.2036C>A n.2009C>A | |
8 | g.141168140C>G | CA463493267 | DENND3 | c.1890C>G (p.Pro630=) c.1650C>G (p.Pro550=) c.1494C>G (p.Pro498=) c.1663C>G n.1431C>G c.1689C>G (p.Pro563=) c.1533C>G (p.Pro511=) c.1656C>G (p.Pro552=) c.1146C>G (p.Pro382=) c.1323C>G (p.Pro441=) c.1317C>G (p.Pro439=) c.858C>G (p.Pro286=) c.387C>G (p.Pro129=) n.1819C>G n.1986C>G c.1734C>G (p.Pro578=) c.426C>G (p.Pro142=) n.2036C>G n.2009C>G | |
8 | g.141168140C>T | CA4896768 | DENND3 | c.1890C>T (p.Pro630=) c.1650C>T (p.Pro550=) c.1494C>T (p.Pro498=) c.1663C>T n.1431C>T c.1689C>T (p.Pro563=) c.1533C>T (p.Pro511=) c.1656C>T (p.Pro552=) c.1146C>T (p.Pro382=) c.1323C>T (p.Pro441=) c.1317C>T (p.Pro439=) c.858C>T (p.Pro286=) c.387C>T (p.Pro129=) n.1819C>T n.1986C>T c.1734C>T (p.Pro578=) c.426C>T (p.Pro142=) n.2036C>T n.2009C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168141G>A | CA4896769 | DENND3 | c.1891G>A (p.Asp631Asn) c.1651G>A (p.Asp551Asn) c.1495G>A (p.Asp499Asn) c.1664G>A n.1432G>A c.1690G>A (p.Asp564Asn) c.1534G>A (p.Asp512Asn) c.1657G>A (p.Asp553Asn) c.1147G>A (p.Asp383Asn) c.1324G>A (p.Asp442Asn) c.1318G>A (p.Asp440Asn) c.859G>A (p.Asp287Asn) c.388G>A (p.Asp130Asn) n.1820G>A n.1987G>A c.1735G>A (p.Asp579Asn) c.427G>A (p.Asp143Asn) n.2037G>A n.2010G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168141G>C | CA372343760 | DENND3 | c.1891G>C (p.Asp631His) c.1651G>C (p.Asp551His) c.1495G>C (p.Asp499His) c.1664G>C n.1432G>C c.1690G>C (p.Asp564His) c.1534G>C (p.Asp512His) c.1657G>C (p.Asp553His) c.1147G>C (p.Asp383His) c.1324G>C (p.Asp442His) c.1318G>C (p.Asp440His) c.859G>C (p.Asp287His) c.388G>C (p.Asp130His) n.1820G>C n.1987G>C c.1735G>C (p.Asp579His) c.427G>C (p.Asp143His) n.2037G>C n.2010G>C | |
8 | g.141168141G>T | CA372343761 | DENND3 | c.1891G>T (p.Asp631Tyr) c.1651G>T (p.Asp551Tyr) c.1495G>T (p.Asp499Tyr) c.1664G>T n.1432G>T c.1690G>T (p.Asp564Tyr) c.1534G>T (p.Asp512Tyr) c.1657G>T (p.Asp553Tyr) c.1147G>T (p.Asp383Tyr) c.1324G>T (p.Asp442Tyr) c.1318G>T (p.Asp440Tyr) c.859G>T (p.Asp287Tyr) c.388G>T (p.Asp130Tyr) n.1820G>T n.1987G>T c.1735G>T (p.Asp579Tyr) c.427G>T (p.Asp143Tyr) n.2037G>T n.2010G>T | |
8 | g.141168142A>C | CA372343762 | DENND3 | c.1892A>C (p.Asp631Ala) c.1652A>C (p.Asp551Ala) c.1496A>C (p.Asp499Ala) c.1665A>C n.1433A>C c.1691A>C (p.Asp564Ala) c.1535A>C (p.Asp512Ala) c.1658A>C (p.Asp553Ala) c.1148A>C (p.Asp383Ala) c.1325A>C (p.Asp442Ala) c.1319A>C (p.Asp440Ala) c.860A>C (p.Asp287Ala) c.389A>C (p.Asp130Ala) n.1821A>C n.1988A>C c.1736A>C (p.Asp579Ala) c.428A>C (p.Asp143Ala) n.2038A>C n.2011A>C | |
8 | g.141168142A>G | CA372343763 | DENND3 | c.1892A>G (p.Asp631Gly) c.1652A>G (p.Asp551Gly) c.1496A>G (p.Asp499Gly) c.1665A>G n.1433A>G c.1691A>G (p.Asp564Gly) c.1535A>G (p.Asp512Gly) c.1658A>G (p.Asp553Gly) c.1148A>G (p.Asp383Gly) c.1325A>G (p.Asp442Gly) c.1319A>G (p.Asp440Gly) c.860A>G (p.Asp287Gly) c.389A>G (p.Asp130Gly) n.1821A>G n.1988A>G c.1736A>G (p.Asp579Gly) c.428A>G (p.Asp143Gly) n.2038A>G n.2011A>G | gnomAD v4 |
8 | g.141168142A>T | CA372343764 | DENND3 | c.1892A>T (p.Asp631Val) c.1652A>T (p.Asp551Val) c.1496A>T (p.Asp499Val) c.1665A>T n.1433A>T c.1691A>T (p.Asp564Val) c.1535A>T (p.Asp512Val) c.1658A>T (p.Asp553Val) c.1148A>T (p.Asp383Val) c.1325A>T (p.Asp442Val) c.1319A>T (p.Asp440Val) c.860A>T (p.Asp287Val) c.389A>T (p.Asp130Val) n.1821A>T n.1988A>T c.1736A>T (p.Asp579Val) c.428A>T (p.Asp143Val) n.2038A>T n.2011A>T | |
8 | g.141168143T>A | CA372343766 | DENND3 | c.1893T>A (p.Asp631Glu) c.1653T>A (p.Asp551Glu) c.1497T>A (p.Asp499Glu) c.1666T>A n.1434T>A c.1692T>A (p.Asp564Glu) c.1536T>A (p.Asp512Glu) c.1659T>A (p.Asp553Glu) c.1149T>A (p.Asp383Glu) c.1326T>A (p.Asp442Glu) c.1320T>A (p.Asp440Glu) c.861T>A (p.Asp287Glu) c.390T>A (p.Asp130Glu) n.1822T>A n.1989T>A c.1737T>A (p.Asp579Glu) c.429T>A (p.Asp143Glu) n.2039T>A n.2012T>A | |
8 | g.141168143T>C | CA463493268 | DENND3 | c.1893T>C (p.Asp631=) c.1653T>C (p.Asp551=) c.1497T>C (p.Asp499=) c.1666T>C n.1434T>C c.1692T>C (p.Asp564=) c.1536T>C (p.Asp512=) c.1659T>C (p.Asp553=) c.1149T>C (p.Asp383=) c.1326T>C (p.Asp442=) c.1320T>C (p.Asp440=) c.861T>C (p.Asp287=) c.390T>C (p.Asp130=) n.1822T>C n.1989T>C c.1737T>C (p.Asp579=) c.429T>C (p.Asp143=) n.2039T>C n.2012T>C | gnomAD v4 |
8 | g.141168143T>G | CA372343765 | DENND3 | c.1893T>G (p.Asp631Glu) c.1653T>G (p.Asp551Glu) c.1497T>G (p.Asp499Glu) c.1666T>G n.1434T>G c.1692T>G (p.Asp564Glu) c.1536T>G (p.Asp512Glu) c.1659T>G (p.Asp553Glu) c.1149T>G (p.Asp383Glu) c.1326T>G (p.Asp442Glu) c.1320T>G (p.Asp440Glu) c.861T>G (p.Asp287Glu) c.390T>G (p.Asp130Glu) n.1822T>G n.1989T>G c.1737T>G (p.Asp579Glu) c.429T>G (p.Asp143Glu) n.2039T>G n.2012T>G | |
8 | g.141168144A>C | CA372343767 | DENND3 | c.1894A>C (p.Asn632His) c.1654A>C (p.Asn552His) c.1498A>C (p.Asn500His) c.1667A>C n.1435A>C c.1693A>C (p.Asn565His) c.1537A>C (p.Asn513His) c.1660A>C (p.Asn554His) c.1150A>C (p.Asn384His) c.1327A>C (p.Asn443His) c.1321A>C (p.Asn441His) c.862A>C (p.Asn288His) c.391A>C (p.Asn131His) n.1823A>C n.1990A>C c.1738A>C (p.Asn580His) c.430A>C (p.Asn144His) n.2040A>C n.2013A>C | |
8 | g.141168144A>G | CA372343768 | DENND3 | c.1894A>G (p.Asn632Asp) c.1654A>G (p.Asn552Asp) c.1498A>G (p.Asn500Asp) c.1667A>G n.1435A>G c.1693A>G (p.Asn565Asp) c.1537A>G (p.Asn513Asp) c.1660A>G (p.Asn554Asp) c.1150A>G (p.Asn384Asp) c.1327A>G (p.Asn443Asp) c.1321A>G (p.Asn441Asp) c.862A>G (p.Asn288Asp) c.391A>G (p.Asn131Asp) n.1823A>G n.1990A>G c.1738A>G (p.Asn580Asp) c.430A>G (p.Asn144Asp) n.2040A>G n.2013A>G | |
8 | g.141168144A>T | CA372343769 | DENND3 | c.1894A>T (p.Asn632Tyr) c.1654A>T (p.Asn552Tyr) c.1498A>T (p.Asn500Tyr) c.1667A>T n.1435A>T c.1693A>T (p.Asn565Tyr) c.1537A>T (p.Asn513Tyr) c.1660A>T (p.Asn554Tyr) c.1150A>T (p.Asn384Tyr) c.1327A>T (p.Asn443Tyr) c.1321A>T (p.Asn441Tyr) c.862A>T (p.Asn288Tyr) c.391A>T (p.Asn131Tyr) n.1823A>T n.1990A>T c.1738A>T (p.Asn580Tyr) c.430A>T (p.Asn144Tyr) n.2040A>T n.2013A>T | |
8 | g.141168145A>C | CA372343770 | DENND3 | c.1895A>C (p.Asn632Thr) c.1655A>C (p.Asn552Thr) c.1499A>C (p.Asn500Thr) c.1668A>C n.1436A>C c.1694A>C (p.Asn565Thr) c.1538A>C (p.Asn513Thr) c.1661A>C (p.Asn554Thr) c.1151A>C (p.Asn384Thr) c.1328A>C (p.Asn443Thr) c.1322A>C (p.Asn441Thr) c.863A>C (p.Asn288Thr) c.392A>C (p.Asn131Thr) n.1824A>C n.1991A>C c.1739A>C (p.Asn580Thr) c.431A>C (p.Asn144Thr) n.2041A>C n.2014A>C | dbSNP |
8 | g.141168145A>G | CA372343771 | DENND3 | c.1895A>G (p.Asn632Ser) c.1655A>G (p.Asn552Ser) c.1499A>G (p.Asn500Ser) c.1668A>G n.1436A>G c.1694A>G (p.Asn565Ser) c.1538A>G (p.Asn513Ser) c.1661A>G (p.Asn554Ser) c.1151A>G (p.Asn384Ser) c.1328A>G (p.Asn443Ser) c.1322A>G (p.Asn441Ser) c.863A>G (p.Asn288Ser) c.392A>G (p.Asn131Ser) n.1824A>G n.1991A>G c.1739A>G (p.Asn580Ser) c.431A>G (p.Asn144Ser) n.2041A>G n.2014A>G | |
8 | g.141168145A>T | CA372343772 | DENND3 | c.1895A>T (p.Asn632Ile) c.1655A>T (p.Asn552Ile) c.1499A>T (p.Asn500Ile) c.1668A>T n.1436A>T c.1694A>T (p.Asn565Ile) c.1538A>T (p.Asn513Ile) c.1661A>T (p.Asn554Ile) c.1151A>T (p.Asn384Ile) c.1328A>T (p.Asn443Ile) c.1322A>T (p.Asn441Ile) c.863A>T (p.Asn288Ile) c.392A>T (p.Asn131Ile) n.1824A>T n.1991A>T c.1739A>T (p.Asn580Ile) c.431A>T (p.Asn144Ile) n.2041A>T n.2014A>T | |
8 | g.141168146C>A | CA372343773 | DENND3 | c.1896C>A (p.Asn632Lys) c.1656C>A (p.Asn552Lys) c.1500C>A (p.Asn500Lys) c.1669C>A n.1437C>A c.1695C>A (p.Asn565Lys) c.1539C>A (p.Asn513Lys) c.1662C>A (p.Asn554Lys) c.1152C>A (p.Asn384Lys) c.1329C>A (p.Asn443Lys) c.1323C>A (p.Asn441Lys) c.864C>A (p.Asn288Lys) c.393C>A (p.Asn131Lys) n.1825C>A n.1992C>A c.1740C>A (p.Asn580Lys) c.432C>A (p.Asn144Lys) n.2042C>A n.2015C>A | |
8 | g.141168146C>G | CA4896770 | DENND3 | c.1896C>G (p.Asn632Lys) c.1656C>G (p.Asn552Lys) c.1500C>G (p.Asn500Lys) c.1669C>G n.1437C>G c.1695C>G (p.Asn565Lys) c.1539C>G (p.Asn513Lys) c.1662C>G (p.Asn554Lys) c.1152C>G (p.Asn384Lys) c.1329C>G (p.Asn443Lys) c.1323C>G (p.Asn441Lys) c.864C>G (p.Asn288Lys) c.393C>G (p.Asn131Lys) n.1825C>G n.1992C>G c.1740C>G (p.Asn580Lys) c.432C>G (p.Asn144Lys) n.2042C>G n.2015C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168146C>T | CA463493269 | DENND3 | c.1896C>T (p.Asn632=) c.1656C>T (p.Asn552=) c.1500C>T (p.Asn500=) c.1669C>T n.1437C>T c.1695C>T (p.Asn565=) c.1539C>T (p.Asn513=) c.1662C>T (p.Asn554=) c.1152C>T (p.Asn384=) c.1329C>T (p.Asn443=) c.1323C>T (p.Asn441=) c.864C>T (p.Asn288=) c.393C>T (p.Asn131=) n.1825C>T n.1992C>T c.1740C>T (p.Asn580=) c.432C>T (p.Asn144=) n.2042C>T n.2015C>T | |
8 | g.141168147T>A | CA372343774 | DENND3 | c.1897T>A (p.Ser633Thr) c.1657T>A (p.Ser553Thr) c.1501T>A (p.Ser501Thr) c.1670T>A n.1438T>A c.1696T>A (p.Ser566Thr) c.1540T>A (p.Ser514Thr) c.1663T>A (p.Ser555Thr) c.1153T>A (p.Ser385Thr) c.1330T>A (p.Ser444Thr) c.1324T>A (p.Ser442Thr) c.865T>A (p.Ser289Thr) c.394T>A (p.Ser132Thr) n.1826T>A n.1993T>A c.1741T>A (p.Ser581Thr) c.433T>A (p.Ser145Thr) n.2043T>A n.2016T>A | |
8 | g.141168147T>C | CA372343775 | DENND3 | c.1897T>C (p.Ser633Pro) c.1657T>C (p.Ser553Pro) c.1501T>C (p.Ser501Pro) c.1670T>C n.1438T>C c.1696T>C (p.Ser566Pro) c.1540T>C (p.Ser514Pro) c.1663T>C (p.Ser555Pro) c.1153T>C (p.Ser385Pro) c.1330T>C (p.Ser444Pro) c.1324T>C (p.Ser442Pro) c.865T>C (p.Ser289Pro) c.394T>C (p.Ser132Pro) n.1826T>C n.1993T>C c.1741T>C (p.Ser581Pro) c.433T>C (p.Ser145Pro) n.2043T>C n.2016T>C | |
8 | g.141168147T>G | CA4896771 | DENND3 | c.1897T>G (p.Ser633Ala) c.1657T>G (p.Ser553Ala) c.1501T>G (p.Ser501Ala) c.1670T>G n.1438T>G c.1696T>G (p.Ser566Ala) c.1540T>G (p.Ser514Ala) c.1663T>G (p.Ser555Ala) c.1153T>G (p.Ser385Ala) c.1330T>G (p.Ser444Ala) c.1324T>G (p.Ser442Ala) c.865T>G (p.Ser289Ala) c.394T>G (p.Ser132Ala) n.1826T>G n.1993T>G c.1741T>G (p.Ser581Ala) c.433T>G (p.Ser145Ala) n.2043T>G n.2016T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168148C>A | CA372343776 | DENND3 | c.1898C>A (p.Ser633Tyr) c.1658C>A (p.Ser553Tyr) c.1502C>A (p.Ser501Tyr) c.1671C>A n.1439C>A c.1697C>A (p.Ser566Tyr) c.1541C>A (p.Ser514Tyr) c.1664C>A (p.Ser555Tyr) c.1154C>A (p.Ser385Tyr) c.1331C>A (p.Ser444Tyr) c.1325C>A (p.Ser442Tyr) c.866C>A (p.Ser289Tyr) c.395C>A (p.Ser132Tyr) n.1827C>A n.1994C>A c.1742C>A (p.Ser581Tyr) c.434C>A (p.Ser145Tyr) n.2044C>A n.2017C>A | |
8 | g.141168148C>G | CA372343777 | DENND3 | c.1898C>G (p.Ser633Cys) c.1658C>G (p.Ser553Cys) c.1502C>G (p.Ser501Cys) c.1671C>G n.1439C>G c.1697C>G (p.Ser566Cys) c.1541C>G (p.Ser514Cys) c.1664C>G (p.Ser555Cys) c.1154C>G (p.Ser385Cys) c.1331C>G (p.Ser444Cys) c.1325C>G (p.Ser442Cys) c.866C>G (p.Ser289Cys) c.395C>G (p.Ser132Cys) n.1827C>G n.1994C>G c.1742C>G (p.Ser581Cys) c.434C>G (p.Ser145Cys) n.2044C>G n.2017C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168148C>T | CA372343778 | DENND3 | c.1898C>T (p.Ser633Phe) c.1658C>T (p.Ser553Phe) c.1502C>T (p.Ser501Phe) c.1671C>T n.1439C>T c.1697C>T (p.Ser566Phe) c.1541C>T (p.Ser514Phe) c.1664C>T (p.Ser555Phe) c.1154C>T (p.Ser385Phe) c.1331C>T (p.Ser444Phe) c.1325C>T (p.Ser442Phe) c.866C>T (p.Ser289Phe) c.395C>T (p.Ser132Phe) n.1827C>T n.1994C>T c.1742C>T (p.Ser581Phe) c.434C>T (p.Ser145Phe) n.2044C>T n.2017C>T | gnomAD v4 |
8 | g.141168149T>A | CA463493273 | DENND3 | c.1899T>A (p.Ser633=) c.1659T>A (p.Ser553=) c.1503T>A (p.Ser501=) c.1672T>A n.1440T>A c.1698T>A (p.Ser566=) c.1542T>A (p.Ser514=) c.1665T>A (p.Ser555=) c.1155T>A (p.Ser385=) c.1332T>A (p.Ser444=) c.1326T>A (p.Ser442=) c.867T>A (p.Ser289=) c.396T>A (p.Ser132=) n.1828T>A n.1995T>A c.1743T>A (p.Ser581=) c.435T>A (p.Ser145=) n.2045T>A n.2018T>A | |
8 | g.141168149T>C | CA463493272 | DENND3 | c.1899T>C (p.Ser633=) c.1659T>C (p.Ser553=) c.1503T>C (p.Ser501=) c.1672T>C n.1440T>C c.1698T>C (p.Ser566=) c.1542T>C (p.Ser514=) c.1665T>C (p.Ser555=) c.1155T>C (p.Ser385=) c.1332T>C (p.Ser444=) c.1326T>C (p.Ser442=) c.867T>C (p.Ser289=) c.396T>C (p.Ser132=) n.1828T>C n.1995T>C c.1743T>C (p.Ser581=) c.435T>C (p.Ser145=) n.2045T>C n.2018T>C | |
8 | g.141168149T>G | CA463493271 | DENND3 | c.1899T>G (p.Ser633=) c.1659T>G (p.Ser553=) c.1503T>G (p.Ser501=) c.1672T>G n.1440T>G c.1698T>G (p.Ser566=) c.1542T>G (p.Ser514=) c.1665T>G (p.Ser555=) c.1155T>G (p.Ser385=) c.1332T>G (p.Ser444=) c.1326T>G (p.Ser442=) c.867T>G (p.Ser289=) c.396T>G (p.Ser132=) n.1828T>G n.1995T>G c.1743T>G (p.Ser581=) c.435T>G (p.Ser145=) n.2045T>G n.2018T>G | |
8 | g.141168150C>A | CA372343780 | DENND3 | c.1900C>A (p.Leu634Met) c.1660C>A (p.Leu554Met) c.1504C>A (p.Leu502Met) c.1673C>A n.1441C>A c.1699C>A (p.Leu567Met) c.1543C>A (p.Leu515Met) c.1666C>A (p.Leu556Met) c.1156C>A (p.Leu386Met) c.1333C>A (p.Leu445Met) c.1327C>A (p.Leu443Met) c.868C>A (p.Leu290Met) c.397C>A (p.Leu133Met) n.1829C>A n.1996C>A c.1744C>A (p.Leu582Met) c.436C>A (p.Leu146Met) n.2046C>A n.2019C>A | |
8 | g.141168150C>G | CA372343779 | DENND3 | c.1900C>G (p.Leu634Val) c.1660C>G (p.Leu554Val) c.1504C>G (p.Leu502Val) c.1673C>G n.1441C>G c.1699C>G (p.Leu567Val) c.1543C>G (p.Leu515Val) c.1666C>G (p.Leu556Val) c.1156C>G (p.Leu386Val) c.1333C>G (p.Leu445Val) c.1327C>G (p.Leu443Val) c.868C>G (p.Leu290Val) c.397C>G (p.Leu133Val) n.1829C>G n.1996C>G c.1744C>G (p.Leu582Val) c.436C>G (p.Leu146Val) n.2046C>G n.2019C>G | COSMIC |
8 | g.141168150C>T | CA463493274 | DENND3 | c.1900C>T (p.Leu634=) c.1660C>T (p.Leu554=) c.1504C>T (p.Leu502=) c.1673C>T n.1441C>T c.1699C>T (p.Leu567=) c.1543C>T (p.Leu515=) c.1666C>T (p.Leu556=) c.1156C>T (p.Leu386=) c.1333C>T (p.Leu445=) c.1327C>T (p.Leu443=) c.868C>T (p.Leu290=) c.397C>T (p.Leu133=) n.1829C>T n.1996C>T c.1744C>T (p.Leu582=) c.436C>T (p.Leu146=) n.2046C>T n.2019C>T | |
8 | g.141168151T>A | CA372343781 | DENND3 | c.1901T>A (p.Leu634Gln) c.1661T>A (p.Leu554Gln) c.1505T>A (p.Leu502Gln) c.1674T>A n.1442T>A c.1700T>A (p.Leu567Gln) c.1544T>A (p.Leu515Gln) c.1667T>A (p.Leu556Gln) c.1157T>A (p.Leu386Gln) c.1334T>A (p.Leu445Gln) c.1328T>A (p.Leu443Gln) c.869T>A (p.Leu290Gln) c.398T>A (p.Leu133Gln) n.1830T>A n.1997T>A c.1745T>A (p.Leu582Gln) c.437T>A (p.Leu146Gln) n.2047T>A n.2020T>A | gnomAD v4 |
8 | g.141168151T>C | CA372343783 | DENND3 | c.1901T>C (p.Leu634Pro) c.1661T>C (p.Leu554Pro) c.1505T>C (p.Leu502Pro) c.1674T>C n.1442T>C c.1700T>C (p.Leu567Pro) c.1544T>C (p.Leu515Pro) c.1667T>C (p.Leu556Pro) c.1157T>C (p.Leu386Pro) c.1334T>C (p.Leu445Pro) c.1328T>C (p.Leu443Pro) c.869T>C (p.Leu290Pro) c.398T>C (p.Leu133Pro) n.1830T>C n.1997T>C c.1745T>C (p.Leu582Pro) c.437T>C (p.Leu146Pro) n.2047T>C n.2020T>C | |
8 | g.141168151T>G | CA372343782 | DENND3 | c.1901T>G (p.Leu634Arg) c.1661T>G (p.Leu554Arg) c.1505T>G (p.Leu502Arg) c.1674T>G n.1442T>G c.1700T>G (p.Leu567Arg) c.1544T>G (p.Leu515Arg) c.1667T>G (p.Leu556Arg) c.1157T>G (p.Leu386Arg) c.1334T>G (p.Leu445Arg) c.1328T>G (p.Leu443Arg) c.869T>G (p.Leu290Arg) c.398T>G (p.Leu133Arg) n.1830T>G n.1997T>G c.1745T>G (p.Leu582Arg) c.437T>G (p.Leu146Arg) n.2047T>G n.2020T>G | |
8 | g.141168152G>A | CA463493275 | DENND3 | c.1902G>A (p.Leu634=) c.1662G>A (p.Leu554=) c.1506G>A (p.Leu502=) c.1675G>A n.1443G>A c.1701G>A (p.Leu567=) c.1545G>A (p.Leu515=) c.1668G>A (p.Leu556=) c.1158G>A (p.Leu386=) c.1335G>A (p.Leu445=) c.1329G>A (p.Leu443=) c.870G>A (p.Leu290=) c.399G>A (p.Leu133=) n.1831G>A n.1998G>A c.1746G>A (p.Leu582=) c.438G>A (p.Leu146=) n.2048G>A n.2021G>A | |
8 | g.141168152G>C | CA463493276 | DENND3 | c.1902G>C (p.Leu634=) c.1662G>C (p.Leu554=) c.1506G>C (p.Leu502=) c.1675G>C n.1443G>C c.1701G>C (p.Leu567=) c.1545G>C (p.Leu515=) c.1668G>C (p.Leu556=) c.1158G>C (p.Leu386=) c.1335G>C (p.Leu445=) c.1329G>C (p.Leu443=) c.870G>C (p.Leu290=) c.399G>C (p.Leu133=) n.1831G>C n.1998G>C c.1746G>C (p.Leu582=) c.438G>C (p.Leu146=) n.2048G>C n.2021G>C | |
8 | g.141168152G>T | CA463493277 | DENND3 | c.1902G>T (p.Leu634=) c.1662G>T (p.Leu554=) c.1506G>T (p.Leu502=) c.1675G>T n.1443G>T c.1701G>T (p.Leu567=) c.1545G>T (p.Leu515=) c.1668G>T (p.Leu556=) c.1158G>T (p.Leu386=) c.1335G>T (p.Leu445=) c.1329G>T (p.Leu443=) c.870G>T (p.Leu290=) c.399G>T (p.Leu133=) n.1831G>T n.1998G>T c.1746G>T (p.Leu582=) c.438G>T (p.Leu146=) n.2048G>T n.2021G>T | COSMIC |
8 | g.141168153C>A | CA372343784 | DENND3 | c.1903C>A (p.Leu635Ile) c.1663C>A (p.Leu555Ile) c.1507C>A (p.Leu503Ile) c.1676C>A n.1444C>A c.1702C>A (p.Leu568Ile) c.1546C>A (p.Leu516Ile) c.1669C>A (p.Leu557Ile) c.1159C>A (p.Leu387Ile) c.1336C>A (p.Leu446Ile) c.1330C>A (p.Leu444Ile) c.871C>A (p.Leu291Ile) c.400C>A (p.Leu134Ile) n.1832C>A n.1999C>A c.1747C>A (p.Leu583Ile) c.439C>A (p.Leu147Ile) n.2049C>A n.2022C>A | |
8 | g.141168153C>G | CA372343786 | DENND3 | c.1903C>G (p.Leu635Val) c.1663C>G (p.Leu555Val) c.1507C>G (p.Leu503Val) c.1676C>G n.1444C>G c.1702C>G (p.Leu568Val) c.1546C>G (p.Leu516Val) c.1669C>G (p.Leu557Val) c.1159C>G (p.Leu387Val) c.1336C>G (p.Leu446Val) c.1330C>G (p.Leu444Val) c.871C>G (p.Leu291Val) c.400C>G (p.Leu134Val) n.1832C>G n.1999C>G c.1747C>G (p.Leu583Val) c.439C>G (p.Leu147Val) n.2049C>G n.2022C>G | |
8 | g.141168153C>T | CA372343785 | DENND3 | c.1903C>T (p.Leu635Phe) c.1663C>T (p.Leu555Phe) c.1507C>T (p.Leu503Phe) c.1676C>T n.1444C>T c.1702C>T (p.Leu568Phe) c.1546C>T (p.Leu516Phe) c.1669C>T (p.Leu557Phe) c.1159C>T (p.Leu387Phe) c.1336C>T (p.Leu446Phe) c.1330C>T (p.Leu444Phe) c.871C>T (p.Leu291Phe) c.400C>T (p.Leu134Phe) n.1832C>T n.1999C>T c.1747C>T (p.Leu583Phe) c.439C>T (p.Leu147Phe) n.2049C>T n.2022C>T | |
8 | g.141168154T>A | CA372343787 | DENND3 | c.1904T>A (p.Leu635His) c.1664T>A (p.Leu555His) c.1508T>A (p.Leu503His) c.1677T>A n.1445T>A c.1703T>A (p.Leu568His) c.1547T>A (p.Leu516His) c.1670T>A (p.Leu557His) c.1160T>A (p.Leu387His) c.1337T>A (p.Leu446His) c.1331T>A (p.Leu444His) c.872T>A (p.Leu291His) c.401T>A (p.Leu134His) n.1833T>A n.2000T>A c.1748T>A (p.Leu583His) c.440T>A (p.Leu147His) n.2050T>A n.2023T>A | |
8 | g.141168154T>C | CA372343789 | DENND3 | c.1904T>C (p.Leu635Pro) c.1664T>C (p.Leu555Pro) c.1508T>C (p.Leu503Pro) c.1677T>C n.1445T>C c.1703T>C (p.Leu568Pro) c.1547T>C (p.Leu516Pro) c.1670T>C (p.Leu557Pro) c.1160T>C (p.Leu387Pro) c.1337T>C (p.Leu446Pro) c.1331T>C (p.Leu444Pro) c.872T>C (p.Leu291Pro) c.401T>C (p.Leu134Pro) n.1833T>C n.2000T>C c.1748T>C (p.Leu583Pro) c.440T>C (p.Leu147Pro) n.2050T>C n.2023T>C | |
8 | g.141168154T>G | CA372343788 | DENND3 | c.1904T>G (p.Leu635Arg) c.1664T>G (p.Leu555Arg) c.1508T>G (p.Leu503Arg) c.1677T>G n.1445T>G c.1703T>G (p.Leu568Arg) c.1547T>G (p.Leu516Arg) c.1670T>G (p.Leu557Arg) c.1160T>G (p.Leu387Arg) c.1337T>G (p.Leu446Arg) c.1331T>G (p.Leu444Arg) c.872T>G (p.Leu291Arg) c.401T>G (p.Leu134Arg) n.1833T>G n.2000T>G c.1748T>G (p.Leu583Arg) c.440T>G (p.Leu147Arg) n.2050T>G n.2023T>G | |
8 | g.141168155C>A | CA463493285 | DENND3 | c.1905C>A (p.Leu635=) c.1665C>A (p.Leu555=) c.1509C>A (p.Leu503=) c.1678C>A n.1446C>A c.1704C>A (p.Leu568=) c.1548C>A (p.Leu516=) c.1671C>A (p.Leu557=) c.1161C>A (p.Leu387=) c.1338C>A (p.Leu446=) c.1332C>A (p.Leu444=) c.873C>A (p.Leu291=) c.402C>A (p.Leu134=) n.1834C>A n.2001C>A c.1749C>A (p.Leu583=) c.441C>A (p.Leu147=) n.2051C>A n.2024C>A | gnomAD v4 |
8 | g.141168155C>G | CA463493287 | DENND3 | c.1905C>G (p.Leu635=) c.1665C>G (p.Leu555=) c.1509C>G (p.Leu503=) c.1678C>G n.1446C>G c.1704C>G (p.Leu568=) c.1548C>G (p.Leu516=) c.1671C>G (p.Leu557=) c.1161C>G (p.Leu387=) c.1338C>G (p.Leu446=) c.1332C>G (p.Leu444=) c.873C>G (p.Leu291=) c.402C>G (p.Leu134=) n.1834C>G n.2001C>G c.1749C>G (p.Leu583=) c.441C>G (p.Leu147=) n.2051C>G n.2024C>G | |
8 | g.141168155C>T | CA463493289 | DENND3 | c.1905C>T (p.Leu635=) c.1665C>T (p.Leu555=) c.1509C>T (p.Leu503=) c.1678C>T n.1446C>T c.1704C>T (p.Leu568=) c.1548C>T (p.Leu516=) c.1671C>T (p.Leu557=) c.1161C>T (p.Leu387=) c.1338C>T (p.Leu446=) c.1332C>T (p.Leu444=) c.873C>T (p.Leu291=) c.402C>T (p.Leu134=) n.1834C>T n.2001C>T c.1749C>T (p.Leu583=) c.441C>T (p.Leu147=) n.2051C>T n.2024C>T | dbSNP gnomAD v4 |
8 | g.141168156C>A | CA372343790 | DENND3 | c.1906C>A (p.Leu636Met) c.1666C>A (p.Leu556Met) c.1510C>A (p.Leu504Met) c.1679C>A n.1447C>A c.1705C>A (p.Leu569Met) c.1549C>A (p.Leu517Met) c.1672C>A (p.Leu558Met) c.1162C>A (p.Leu388Met) c.1339C>A (p.Leu447Met) c.1333C>A (p.Leu445Met) c.874C>A (p.Leu292Met) c.403C>A (p.Leu135Met) n.1835C>A n.2002C>A c.1750C>A (p.Leu584Met) c.442C>A (p.Leu148Met) n.2052C>A n.2025C>A | |
8 | g.141168156C>G | CA372343791 | DENND3 | c.1906C>G (p.Leu636Val) c.1666C>G (p.Leu556Val) c.1510C>G (p.Leu504Val) c.1679C>G n.1447C>G c.1705C>G (p.Leu569Val) c.1549C>G (p.Leu517Val) c.1672C>G (p.Leu558Val) c.1162C>G (p.Leu388Val) c.1339C>G (p.Leu447Val) c.1333C>G (p.Leu445Val) c.874C>G (p.Leu292Val) c.403C>G (p.Leu135Val) n.1835C>G n.2002C>G c.1750C>G (p.Leu584Val) c.442C>G (p.Leu148Val) n.2052C>G n.2025C>G | |
8 | g.141168156C>T | CA463493303 | DENND3 | c.1906C>T (p.Leu636=) c.1666C>T (p.Leu556=) c.1510C>T (p.Leu504=) c.1679C>T n.1447C>T c.1705C>T (p.Leu569=) c.1549C>T (p.Leu517=) c.1672C>T (p.Leu558=) c.1162C>T (p.Leu388=) c.1339C>T (p.Leu447=) c.1333C>T (p.Leu445=) c.874C>T (p.Leu292=) c.403C>T (p.Leu135=) n.1835C>T n.2002C>T c.1750C>T (p.Leu584=) c.442C>T (p.Leu148=) n.2052C>T n.2025C>T | |
8 | g.141168157T>A | CA372343792 | DENND3 | c.1907T>A (p.Leu636Gln) c.1667T>A (p.Leu556Gln) c.1511T>A (p.Leu504Gln) c.1680T>A n.1448T>A c.1706T>A (p.Leu569Gln) c.1550T>A (p.Leu517Gln) c.1673T>A (p.Leu558Gln) c.1163T>A (p.Leu388Gln) c.1340T>A (p.Leu447Gln) c.1334T>A (p.Leu445Gln) c.875T>A (p.Leu292Gln) c.404T>A (p.Leu135Gln) n.1836T>A n.2003T>A c.1751T>A (p.Leu584Gln) c.443T>A (p.Leu148Gln) n.2053T>A n.2026T>A | |
8 | g.141168157T>C | CA372343793 | DENND3 | c.1907T>C (p.Leu636Pro) c.1667T>C (p.Leu556Pro) c.1511T>C (p.Leu504Pro) c.1680T>C n.1448T>C c.1706T>C (p.Leu569Pro) c.1550T>C (p.Leu517Pro) c.1673T>C (p.Leu558Pro) c.1163T>C (p.Leu388Pro) c.1340T>C (p.Leu447Pro) c.1334T>C (p.Leu445Pro) c.875T>C (p.Leu292Pro) c.404T>C (p.Leu135Pro) n.1836T>C n.2003T>C c.1751T>C (p.Leu584Pro) c.443T>C (p.Leu148Pro) n.2053T>C n.2026T>C | |
8 | g.141168157T>G | CA372343794 | DENND3 | c.1907T>G (p.Leu636Arg) c.1667T>G (p.Leu556Arg) c.1511T>G (p.Leu504Arg) c.1680T>G n.1448T>G c.1706T>G (p.Leu569Arg) c.1550T>G (p.Leu517Arg) c.1673T>G (p.Leu558Arg) c.1163T>G (p.Leu388Arg) c.1340T>G (p.Leu447Arg) c.1334T>G (p.Leu445Arg) c.875T>G (p.Leu292Arg) c.404T>G (p.Leu135Arg) n.1836T>G n.2003T>G c.1751T>G (p.Leu584Arg) c.443T>G (p.Leu148Arg) n.2053T>G n.2026T>G | |
8 | g.141168158G>A | CA463493310 | DENND3 | c.1908G>A (p.Leu636=) c.1668G>A (p.Leu556=) c.1512G>A (p.Leu504=) c.1681G>A n.1449G>A c.1707G>A (p.Leu569=) c.1551G>A (p.Leu517=) c.1674G>A (p.Leu558=) c.1164G>A (p.Leu388=) c.1341G>A (p.Leu447=) c.1335G>A (p.Leu445=) c.876G>A (p.Leu292=) c.405G>A (p.Leu135=) n.1837G>A n.2004G>A c.1752G>A (p.Leu584=) c.444G>A (p.Leu148=) n.2054G>A n.2027G>A | |
8 | g.141168158G>C | CA463493312 | DENND3 | c.1908G>C (p.Leu636=) c.1668G>C (p.Leu556=) c.1512G>C (p.Leu504=) c.1681G>C n.1449G>C c.1707G>C (p.Leu569=) c.1551G>C (p.Leu517=) c.1674G>C (p.Leu558=) c.1164G>C (p.Leu388=) c.1341G>C (p.Leu447=) c.1335G>C (p.Leu445=) c.876G>C (p.Leu292=) c.405G>C (p.Leu135=) n.1837G>C n.2004G>C c.1752G>C (p.Leu584=) c.444G>C (p.Leu148=) n.2054G>C n.2027G>C | |
8 | g.141168158G>T | CA463493314 | DENND3 | c.1908G>T (p.Leu636=) c.1668G>T (p.Leu556=) c.1512G>T (p.Leu504=) c.1681G>T n.1449G>T c.1707G>T (p.Leu569=) c.1551G>T (p.Leu517=) c.1674G>T (p.Leu558=) c.1164G>T (p.Leu388=) c.1341G>T (p.Leu447=) c.1335G>T (p.Leu445=) c.876G>T (p.Leu292=) c.405G>T (p.Leu135=) n.1837G>T n.2004G>T c.1752G>T (p.Leu584=) c.444G>T (p.Leu148=) n.2054G>T n.2027G>T | |
8 | g.141168159G>A | CA372343795 | DENND3 | c.1909G>A (p.Ala637Thr) c.1669G>A (p.Ala557Thr) c.1513G>A (p.Ala505Thr) c.1682G>A n.1450G>A c.1708G>A (p.Ala570Thr) c.1552G>A (p.Ala518Thr) c.1675G>A (p.Ala559Thr) c.1165G>A (p.Ala389Thr) c.1342G>A (p.Ala448Thr) c.1336G>A (p.Ala446Thr) c.877G>A (p.Ala293Thr) c.406G>A (p.Ala136Thr) n.1838G>A n.2005G>A c.1753G>A (p.Ala585Thr) c.445G>A (p.Ala149Thr) n.2055G>A n.2028G>A | |
8 | g.141168159G>C | CA372343796 | DENND3 | c.1909G>C (p.Ala637Pro) c.1669G>C (p.Ala557Pro) c.1513G>C (p.Ala505Pro) c.1682G>C n.1450G>C c.1708G>C (p.Ala570Pro) c.1552G>C (p.Ala518Pro) c.1675G>C (p.Ala559Pro) c.1165G>C (p.Ala389Pro) c.1342G>C (p.Ala448Pro) c.1336G>C (p.Ala446Pro) c.877G>C (p.Ala293Pro) c.406G>C (p.Ala136Pro) n.1838G>C n.2005G>C c.1753G>C (p.Ala585Pro) c.445G>C (p.Ala149Pro) n.2055G>C n.2028G>C | |
8 | g.141168159G>T | CA372343797 | DENND3 | c.1909G>T (p.Ala637Ser) c.1669G>T (p.Ala557Ser) c.1513G>T (p.Ala505Ser) c.1682G>T n.1450G>T c.1708G>T (p.Ala570Ser) c.1552G>T (p.Ala518Ser) c.1675G>T (p.Ala559Ser) c.1165G>T (p.Ala389Ser) c.1342G>T (p.Ala448Ser) c.1336G>T (p.Ala446Ser) c.877G>T (p.Ala293Ser) c.406G>T (p.Ala136Ser) n.1838G>T n.2005G>T c.1753G>T (p.Ala585Ser) c.445G>T (p.Ala149Ser) n.2055G>T n.2028G>T | |
8 | g.141168160C>A | CA372343798 | DENND3 | c.1910C>A (p.Ala637Asp) c.1670C>A (p.Ala557Asp) c.1514C>A (p.Ala505Asp) c.1683C>A n.1451C>A c.1709C>A (p.Ala570Asp) c.1553C>A (p.Ala518Asp) c.1676C>A (p.Ala559Asp) c.1166C>A (p.Ala389Asp) c.1343C>A (p.Ala448Asp) c.1337C>A (p.Ala446Asp) c.878C>A (p.Ala293Asp) c.407C>A (p.Ala136Asp) n.1839C>A n.2006C>A c.1754C>A (p.Ala585Asp) c.446C>A (p.Ala149Asp) n.2056C>A n.2029C>A | gnomAD v4 COSMIC |
8 | g.141168160C>G | CA372343799 | DENND3 | c.1910C>G (p.Ala637Gly) c.1670C>G (p.Ala557Gly) c.1514C>G (p.Ala505Gly) c.1683C>G n.1451C>G c.1709C>G (p.Ala570Gly) c.1553C>G (p.Ala518Gly) c.1676C>G (p.Ala559Gly) c.1166C>G (p.Ala389Gly) c.1343C>G (p.Ala448Gly) c.1337C>G (p.Ala446Gly) c.878C>G (p.Ala293Gly) c.407C>G (p.Ala136Gly) n.1839C>G n.2006C>G c.1754C>G (p.Ala585Gly) c.446C>G (p.Ala149Gly) n.2056C>G n.2029C>G | |
8 | g.141168160C>T | CA372343800 | DENND3 | c.1910C>T (p.Ala637Val) c.1670C>T (p.Ala557Val) c.1514C>T (p.Ala505Val) c.1683C>T n.1451C>T c.1709C>T (p.Ala570Val) c.1553C>T (p.Ala518Val) c.1676C>T (p.Ala559Val) c.1166C>T (p.Ala389Val) c.1343C>T (p.Ala448Val) c.1337C>T (p.Ala446Val) c.878C>T (p.Ala293Val) c.407C>T (p.Ala136Val) n.1839C>T n.2006C>T c.1754C>T (p.Ala585Val) c.446C>T (p.Ala149Val) n.2056C>T n.2029C>T | |
8 | g.141168161C>A | CA463493322 | DENND3 | c.1911C>A (p.Ala637=) c.1671C>A (p.Ala557=) c.1515C>A (p.Ala505=) c.1684C>A n.1452C>A c.1710C>A (p.Ala570=) c.1554C>A (p.Ala518=) c.1677C>A (p.Ala559=) c.1167C>A (p.Ala389=) c.1344C>A (p.Ala448=) c.1338C>A (p.Ala446=) c.879C>A (p.Ala293=) c.408C>A (p.Ala136=) n.1840C>A n.2007C>A c.1755C>A (p.Ala585=) c.447C>A (p.Ala149=) n.2057C>A n.2030C>A | |
8 | g.141168161C>G | CA463493324 | DENND3 | c.1911C>G (p.Ala637=) c.1671C>G (p.Ala557=) c.1515C>G (p.Ala505=) c.1684C>G n.1452C>G c.1710C>G (p.Ala570=) c.1554C>G (p.Ala518=) c.1677C>G (p.Ala559=) c.1167C>G (p.Ala389=) c.1344C>G (p.Ala448=) c.1338C>G (p.Ala446=) c.879C>G (p.Ala293=) c.408C>G (p.Ala136=) n.1840C>G n.2007C>G c.1755C>G (p.Ala585=) c.447C>G (p.Ala149=) n.2057C>G n.2030C>G | |
8 | g.141168161C>T | CA463493325 | DENND3 | c.1911C>T (p.Ala637=) c.1671C>T (p.Ala557=) c.1515C>T (p.Ala505=) c.1684C>T n.1452C>T c.1710C>T (p.Ala570=) c.1554C>T (p.Ala518=) c.1677C>T (p.Ala559=) c.1167C>T (p.Ala389=) c.1344C>T (p.Ala448=) c.1338C>T (p.Ala446=) c.879C>T (p.Ala293=) c.408C>T (p.Ala136=) n.1840C>T n.2007C>T c.1755C>T (p.Ala585=) c.447C>T (p.Ala149=) n.2057C>T n.2030C>T | |
8 | g.141168162C>A | CA372343802 | DENND3 | c.1912C>A (p.Arg638Ser) c.1672C>A (p.Arg558Ser) c.1516C>A (p.Arg506Ser) c.1685C>A n.1453C>A c.1711C>A (p.Arg571Ser) c.1555C>A (p.Arg519Ser) c.1678C>A (p.Arg560Ser) c.1168C>A (p.Arg390Ser) c.1345C>A (p.Arg449Ser) c.1339C>A (p.Arg447Ser) c.880C>A (p.Arg294Ser) c.409C>A (p.Arg137Ser) n.1841C>A n.2008C>A c.1756C>A (p.Arg586Ser) c.448C>A (p.Arg150Ser) n.2058C>A n.2031C>A | |
8 | g.141168162C>G | CA372343801 | DENND3 | c.1912C>G (p.Arg638Gly) c.1672C>G (p.Arg558Gly) c.1516C>G (p.Arg506Gly) c.1685C>G n.1453C>G c.1711C>G (p.Arg571Gly) c.1555C>G (p.Arg519Gly) c.1678C>G (p.Arg560Gly) c.1168C>G (p.Arg390Gly) c.1345C>G (p.Arg449Gly) c.1339C>G (p.Arg447Gly) c.880C>G (p.Arg294Gly) c.409C>G (p.Arg137Gly) n.1841C>G n.2008C>G c.1756C>G (p.Arg586Gly) c.448C>G (p.Arg150Gly) n.2058C>G n.2031C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168162C>T | CA4896772 | DENND3 | c.1912C>T (p.Arg638Cys) c.1672C>T (p.Arg558Cys) c.1516C>T (p.Arg506Cys) c.1685C>T n.1453C>T c.1711C>T (p.Arg571Cys) c.1555C>T (p.Arg519Cys) c.1678C>T (p.Arg560Cys) c.1168C>T (p.Arg390Cys) c.1345C>T (p.Arg449Cys) c.1339C>T (p.Arg447Cys) c.880C>T (p.Arg294Cys) c.409C>T (p.Arg137Cys) n.1841C>T n.2008C>T c.1756C>T (p.Arg586Cys) c.448C>T (p.Arg150Cys) n.2058C>T n.2031C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168163G>A | CA4896773 | DENND3 | c.1913G>A (p.Arg638His) c.1673G>A (p.Arg558His) c.1517G>A (p.Arg506His) c.1686G>A n.1454G>A c.1712G>A (p.Arg571His) c.1556G>A (p.Arg519His) c.1679G>A (p.Arg560His) c.1169G>A (p.Arg390His) c.1346G>A (p.Arg449His) c.1340G>A (p.Arg447His) c.881G>A (p.Arg294His) c.410G>A (p.Arg137His) n.1842G>A n.2009G>A c.1757G>A (p.Arg586His) c.449G>A (p.Arg150His) n.2059G>A n.2032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168163G>C | CA372343803 | DENND3 | c.1913G>C (p.Arg638Pro) c.1673G>C (p.Arg558Pro) c.1517G>C (p.Arg506Pro) c.1686G>C n.1454G>C c.1712G>C (p.Arg571Pro) c.1556G>C (p.Arg519Pro) c.1679G>C (p.Arg560Pro) c.1169G>C (p.Arg390Pro) c.1346G>C (p.Arg449Pro) c.1340G>C (p.Arg447Pro) c.881G>C (p.Arg294Pro) c.410G>C (p.Arg137Pro) n.1842G>C n.2009G>C c.1757G>C (p.Arg586Pro) c.449G>C (p.Arg150Pro) n.2059G>C n.2032G>C | |
8 | g.141168163G>T | CA372343804 | DENND3 | c.1913G>T (p.Arg638Leu) c.1673G>T (p.Arg558Leu) c.1517G>T (p.Arg506Leu) c.1686G>T n.1454G>T c.1712G>T (p.Arg571Leu) c.1556G>T (p.Arg519Leu) c.1679G>T (p.Arg560Leu) c.1169G>T (p.Arg390Leu) c.1346G>T (p.Arg449Leu) c.1340G>T (p.Arg447Leu) c.881G>T (p.Arg294Leu) c.410G>T (p.Arg137Leu) n.1842G>T n.2009G>T c.1757G>T (p.Arg586Leu) c.449G>T (p.Arg150Leu) n.2059G>T n.2032G>T | |
8 | g.141168164C>A | CA463493334 | DENND3 | c.1914C>A (p.Arg638=) c.1674C>A (p.Arg558=) c.1518C>A (p.Arg506=) c.1687C>A n.1455C>A c.1713C>A (p.Arg571=) c.1557C>A (p.Arg519=) c.1680C>A (p.Arg560=) c.1170C>A (p.Arg390=) c.1347C>A (p.Arg449=) c.1341C>A (p.Arg447=) c.882C>A (p.Arg294=) c.411C>A (p.Arg137=) n.1843C>A n.2010C>A c.1758C>A (p.Arg586=) c.450C>A (p.Arg150=) n.2060C>A n.2033C>A | |
8 | g.141168164C>G | CA4896774 | DENND3 | c.1914C>G (p.Arg638=) c.1674C>G (p.Arg558=) c.1518C>G (p.Arg506=) c.1687C>G n.1455C>G c.1713C>G (p.Arg571=) c.1557C>G (p.Arg519=) c.1680C>G (p.Arg560=) c.1170C>G (p.Arg390=) c.1347C>G (p.Arg449=) c.1341C>G (p.Arg447=) c.882C>G (p.Arg294=) c.411C>G (p.Arg137=) n.1843C>G n.2010C>G c.1758C>G (p.Arg586=) c.450C>G (p.Arg150=) n.2060C>G n.2033C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168164C>T | CA463493336 | DENND3 | c.1914C>T (p.Arg638=) c.1674C>T (p.Arg558=) c.1518C>T (p.Arg506=) c.1687C>T n.1455C>T c.1713C>T (p.Arg571=) c.1557C>T (p.Arg519=) c.1680C>T (p.Arg560=) c.1170C>T (p.Arg390=) c.1347C>T (p.Arg449=) c.1341C>T (p.Arg447=) c.882C>T (p.Arg294=) c.411C>T (p.Arg137=) n.1843C>T n.2010C>T c.1758C>T (p.Arg586=) c.450C>T (p.Arg150=) n.2060C>T n.2033C>T | gnomAD v4 |
8 | g.141168165T>A | CA372343805 | DENND3 | c.1915T>A (p.Tyr639Asn) c.1675T>A (p.Tyr559Asn) c.1519T>A (p.Tyr507Asn) c.1688T>A n.1456T>A c.1714T>A (p.Tyr572Asn) c.1558T>A (p.Tyr520Asn) c.1681T>A (p.Tyr561Asn) c.1171T>A (p.Tyr391Asn) c.1348T>A (p.Tyr450Asn) c.1342T>A (p.Tyr448Asn) c.883T>A (p.Tyr295Asn) c.412T>A (p.Tyr138Asn) n.1844T>A n.2011T>A c.1759T>A (p.Tyr587Asn) c.451T>A (p.Tyr151Asn) n.2061T>A n.2034T>A | |
8 | g.141168165T>C | CA372343806 | DENND3 | c.1915T>C (p.Tyr639His) c.1675T>C (p.Tyr559His) c.1519T>C (p.Tyr507His) c.1688T>C n.1456T>C c.1714T>C (p.Tyr572His) c.1558T>C (p.Tyr520His) c.1681T>C (p.Tyr561His) c.1171T>C (p.Tyr391His) c.1348T>C (p.Tyr450His) c.1342T>C (p.Tyr448His) c.883T>C (p.Tyr295His) c.412T>C (p.Tyr138His) n.1844T>C n.2011T>C c.1759T>C (p.Tyr587His) c.451T>C (p.Tyr151His) n.2061T>C n.2034T>C | |
8 | g.141168165T>G | CA372343807 | DENND3 | c.1915T>G (p.Tyr639Asp) c.1675T>G (p.Tyr559Asp) c.1519T>G (p.Tyr507Asp) c.1688T>G n.1456T>G c.1714T>G (p.Tyr572Asp) c.1558T>G (p.Tyr520Asp) c.1681T>G (p.Tyr561Asp) c.1171T>G (p.Tyr391Asp) c.1348T>G (p.Tyr450Asp) c.1342T>G (p.Tyr448Asp) c.883T>G (p.Tyr295Asp) c.412T>G (p.Tyr138Asp) n.1844T>G n.2011T>G c.1759T>G (p.Tyr587Asp) c.451T>G (p.Tyr151Asp) n.2061T>G n.2034T>G | |
8 | g.141168166A>C | CA372343808 | DENND3 | c.1916A>C (p.Tyr639Ser) c.1676A>C (p.Tyr559Ser) c.1520A>C (p.Tyr507Ser) c.1689A>C n.1457A>C c.1715A>C (p.Tyr572Ser) c.1559A>C (p.Tyr520Ser) c.1682A>C (p.Tyr561Ser) c.1172A>C (p.Tyr391Ser) c.1349A>C (p.Tyr450Ser) c.1343A>C (p.Tyr448Ser) c.884A>C (p.Tyr295Ser) c.413A>C (p.Tyr138Ser) n.1845A>C n.2012A>C c.1760A>C (p.Tyr587Ser) c.452A>C (p.Tyr151Ser) n.2062A>C n.2035A>C | |
8 | g.141168166A>G | CA372343809 | DENND3 | c.1916A>G (p.Tyr639Cys) c.1676A>G (p.Tyr559Cys) c.1520A>G (p.Tyr507Cys) c.1689A>G n.1457A>G c.1715A>G (p.Tyr572Cys) c.1559A>G (p.Tyr520Cys) c.1682A>G (p.Tyr561Cys) c.1172A>G (p.Tyr391Cys) c.1349A>G (p.Tyr450Cys) c.1343A>G (p.Tyr448Cys) c.884A>G (p.Tyr295Cys) c.413A>G (p.Tyr138Cys) n.1845A>G n.2012A>G c.1760A>G (p.Tyr587Cys) c.452A>G (p.Tyr151Cys) n.2062A>G n.2035A>G | |
8 | g.141168166A>T | CA372343810 | DENND3 | c.1916A>T (p.Tyr639Phe) c.1676A>T (p.Tyr559Phe) c.1520A>T (p.Tyr507Phe) c.1689A>T n.1457A>T c.1715A>T (p.Tyr572Phe) c.1559A>T (p.Tyr520Phe) c.1682A>T (p.Tyr561Phe) c.1172A>T (p.Tyr391Phe) c.1349A>T (p.Tyr450Phe) c.1343A>T (p.Tyr448Phe) c.884A>T (p.Tyr295Phe) c.413A>T (p.Tyr138Phe) n.1845A>T n.2012A>T c.1760A>T (p.Tyr587Phe) c.452A>T (p.Tyr151Phe) n.2062A>T n.2035A>T | |
8 | g.141168167T>A | CA372343812 | DENND3 | c.1917T>A (p.Tyr639Ter) c.1677T>A (p.Tyr559Ter) c.1521T>A (p.Tyr507Ter) c.1690T>A n.1458T>A c.1716T>A (p.Tyr572Ter) c.1560T>A (p.Tyr520Ter) c.1683T>A (p.Tyr561Ter) c.1173T>A (p.Tyr391Ter) c.1350T>A (p.Tyr450Ter) c.1344T>A (p.Tyr448Ter) c.885T>A (p.Tyr295Ter) c.414T>A (p.Tyr138Ter) n.1846T>A n.2013T>A c.1761T>A (p.Tyr587Ter) c.453T>A (p.Tyr151Ter) n.2063T>A n.2036T>A | gnomAD v4 |
8 | g.141168167T>C | CA4896775 | DENND3 | c.1917T>C (p.Tyr639=) c.1677T>C (p.Tyr559=) c.1521T>C (p.Tyr507=) c.1690T>C n.1458T>C c.1716T>C (p.Tyr572=) c.1560T>C (p.Tyr520=) c.1683T>C (p.Tyr561=) c.1173T>C (p.Tyr391=) c.1350T>C (p.Tyr450=) c.1344T>C (p.Tyr448=) c.885T>C (p.Tyr295=) c.414T>C (p.Tyr138=) n.1846T>C n.2013T>C c.1761T>C (p.Tyr587=) c.453T>C (p.Tyr151=) n.2063T>C n.2036T>C | dbSNP ExAC gnomAD v2 |
8 | g.141168167T>G | CA372343811 | DENND3 | c.1917T>G (p.Tyr639Ter) c.1677T>G (p.Tyr559Ter) c.1521T>G (p.Tyr507Ter) c.1690T>G n.1458T>G c.1716T>G (p.Tyr572Ter) c.1560T>G (p.Tyr520Ter) c.1683T>G (p.Tyr561Ter) c.1173T>G (p.Tyr391Ter) c.1350T>G (p.Tyr450Ter) c.1344T>G (p.Tyr448Ter) c.885T>G (p.Tyr295Ter) c.414T>G (p.Tyr138Ter) n.1846T>G n.2013T>G c.1761T>G (p.Tyr587Ter) c.453T>G (p.Tyr151Ter) n.2063T>G n.2036T>G | |
8 | g.141168168T>A | CA372343813 | DENND3 | c.1918T>A (p.Leu640Met) c.1678T>A (p.Leu560Met) c.1522T>A (p.Leu508Met) c.1691T>A n.1459T>A c.1717T>A (p.Leu573Met) c.1561T>A (p.Leu521Met) c.1684T>A (p.Leu562Met) c.1174T>A (p.Leu392Met) c.1351T>A (p.Leu451Met) c.1345T>A (p.Leu449Met) c.886T>A (p.Leu296Met) c.415T>A (p.Leu139Met) n.1847T>A n.2014T>A c.1762T>A (p.Leu588Met) c.454T>A (p.Leu152Met) n.2064T>A n.2037T>A | |
8 | g.141168168T>C | CA4896776 | DENND3 | c.1918T>C (p.Leu640=) c.1678T>C (p.Leu560=) c.1522T>C (p.Leu508=) c.1691T>C n.1459T>C c.1717T>C (p.Leu573=) c.1561T>C (p.Leu521=) c.1684T>C (p.Leu562=) c.1174T>C (p.Leu392=) c.1351T>C (p.Leu451=) c.1345T>C (p.Leu449=) c.886T>C (p.Leu296=) c.415T>C (p.Leu139=) n.1847T>C n.2014T>C c.1762T>C (p.Leu588=) c.454T>C (p.Leu152=) n.2064T>C n.2037T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168168T>G | CA372343814 | DENND3 | c.1918T>G (p.Leu640Val) c.1678T>G (p.Leu560Val) c.1522T>G (p.Leu508Val) c.1691T>G n.1459T>G c.1717T>G (p.Leu573Val) c.1561T>G (p.Leu521Val) c.1684T>G (p.Leu562Val) c.1174T>G (p.Leu392Val) c.1351T>G (p.Leu451Val) c.1345T>G (p.Leu449Val) c.886T>G (p.Leu296Val) c.415T>G (p.Leu139Val) n.1847T>G n.2014T>G c.1762T>G (p.Leu588Val) c.454T>G (p.Leu152Val) n.2064T>G n.2037T>G | |
8 | g.141168169T>A | CA372343815 | DENND3 | c.1919T>A (p.Leu640Ter) c.1679T>A (p.Leu560Ter) c.1523T>A (p.Leu508Ter) c.1692T>A n.1460T>A c.1718T>A (p.Leu573Ter) c.1562T>A (p.Leu521Ter) c.1685T>A (p.Leu562Ter) c.1175T>A (p.Leu392Ter) c.1352T>A (p.Leu451Ter) c.1346T>A (p.Leu449Ter) c.887T>A (p.Leu296Ter) c.416T>A (p.Leu139Ter) n.1848T>A n.2015T>A c.1763T>A (p.Leu588Ter) c.455T>A (p.Leu152Ter) n.2065T>A n.2038T>A | |
8 | g.141168169T>C | CA372343816 | DENND3 | c.1919T>C (p.Leu640Ser) c.1679T>C (p.Leu560Ser) c.1523T>C (p.Leu508Ser) c.1692T>C n.1460T>C c.1718T>C (p.Leu573Ser) c.1562T>C (p.Leu521Ser) c.1685T>C (p.Leu562Ser) c.1175T>C (p.Leu392Ser) c.1352T>C (p.Leu451Ser) c.1346T>C (p.Leu449Ser) c.887T>C (p.Leu296Ser) c.416T>C (p.Leu139Ser) n.1848T>C n.2015T>C c.1763T>C (p.Leu588Ser) c.455T>C (p.Leu152Ser) n.2065T>C n.2038T>C | gnomAD v4 |
8 | g.141168169T>G | CA372343817 | DENND3 | c.1919T>G (p.Leu640Trp) c.1679T>G (p.Leu560Trp) c.1523T>G (p.Leu508Trp) c.1692T>G n.1460T>G c.1718T>G (p.Leu573Trp) c.1562T>G (p.Leu521Trp) c.1685T>G (p.Leu562Trp) c.1175T>G (p.Leu392Trp) c.1352T>G (p.Leu451Trp) c.1346T>G (p.Leu449Trp) c.887T>G (p.Leu296Trp) c.416T>G (p.Leu139Trp) n.1848T>G n.2015T>G c.1763T>G (p.Leu588Trp) c.455T>G (p.Leu152Trp) n.2065T>G n.2038T>G | |
8 | g.141168170G>A | CA187325664 | DENND3 | c.1920G>A (p.Leu640=) c.1680G>A (p.Leu560=) c.1524G>A (p.Leu508=) c.1693G>A n.1461G>A c.1719G>A (p.Leu573=) c.1563G>A (p.Leu521=) c.1686G>A (p.Leu562=) c.1176G>A (p.Leu392=) c.1353G>A (p.Leu451=) c.1347G>A (p.Leu449=) c.888G>A (p.Leu296=) c.417G>A (p.Leu139=) n.1849G>A n.2016G>A c.1764G>A (p.Leu588=) c.456G>A (p.Leu152=) n.2066G>A n.2039G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168170G>C | CA372343818 | DENND3 | c.1920G>C (p.Leu640Phe) c.1680G>C (p.Leu560Phe) c.1524G>C (p.Leu508Phe) c.1693G>C n.1461G>C c.1719G>C (p.Leu573Phe) c.1563G>C (p.Leu521Phe) c.1686G>C (p.Leu562Phe) c.1176G>C (p.Leu392Phe) c.1353G>C (p.Leu451Phe) c.1347G>C (p.Leu449Phe) c.888G>C (p.Leu296Phe) c.417G>C (p.Leu139Phe) n.1849G>C n.2016G>C c.1764G>C (p.Leu588Phe) c.456G>C (p.Leu152Phe) n.2066G>C n.2039G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168170G>T | CA372343819 | DENND3 | c.1920G>T (p.Leu640Phe) c.1680G>T (p.Leu560Phe) c.1524G>T (p.Leu508Phe) c.1693G>T n.1461G>T c.1719G>T (p.Leu573Phe) c.1563G>T (p.Leu521Phe) c.1686G>T (p.Leu562Phe) c.1176G>T (p.Leu392Phe) c.1353G>T (p.Leu451Phe) c.1347G>T (p.Leu449Phe) c.888G>T (p.Leu296Phe) c.417G>T (p.Leu139Phe) n.1849G>T n.2016G>T c.1764G>T (p.Leu588Phe) c.456G>T (p.Leu152Phe) n.2066G>T n.2039G>T | |
8 | g.141168171T>A | CA372343820 | DENND3 | c.1921T>A (p.Tyr641Asn) c.1681T>A (p.Tyr561Asn) c.1525T>A (p.Tyr509Asn) c.1694T>A n.1462T>A c.1720T>A (p.Tyr574Asn) c.1564T>A (p.Tyr522Asn) c.1687T>A (p.Tyr563Asn) c.1177T>A (p.Tyr393Asn) c.1354T>A (p.Tyr452Asn) c.1348T>A (p.Tyr450Asn) c.889T>A (p.Tyr297Asn) c.418T>A (p.Tyr140Asn) n.1850T>A n.2017T>A c.1765T>A (p.Tyr589Asn) c.457T>A (p.Tyr153Asn) n.2067T>A n.2040T>A | |
8 | g.141168171T>C | CA372343821 | DENND3 | c.1921T>C (p.Tyr641His) c.1681T>C (p.Tyr561His) c.1525T>C (p.Tyr509His) c.1694T>C n.1462T>C c.1720T>C (p.Tyr574His) c.1564T>C (p.Tyr522His) c.1687T>C (p.Tyr563His) c.1177T>C (p.Tyr393His) c.1354T>C (p.Tyr452His) c.1348T>C (p.Tyr450His) c.889T>C (p.Tyr297His) c.418T>C (p.Tyr140His) n.1850T>C n.2017T>C c.1765T>C (p.Tyr589His) c.457T>C (p.Tyr153His) n.2067T>C n.2040T>C | |
8 | g.141168171T>G | CA372343822 | DENND3 | c.1921T>G (p.Tyr641Asp) c.1681T>G (p.Tyr561Asp) c.1525T>G (p.Tyr509Asp) c.1694T>G n.1462T>G c.1720T>G (p.Tyr574Asp) c.1564T>G (p.Tyr522Asp) c.1687T>G (p.Tyr563Asp) c.1177T>G (p.Tyr393Asp) c.1354T>G (p.Tyr452Asp) c.1348T>G (p.Tyr450Asp) c.889T>G (p.Tyr297Asp) c.418T>G (p.Tyr140Asp) n.1850T>G n.2017T>G c.1765T>G (p.Tyr589Asp) c.457T>G (p.Tyr153Asp) n.2067T>G n.2040T>G | |
8 | g.141168172A>C | CA372343825 | DENND3 | c.1922A>C (p.Tyr641Ser) c.1682A>C (p.Tyr561Ser) c.1526A>C (p.Tyr509Ser) c.1695A>C n.1463A>C c.1721A>C (p.Tyr574Ser) c.1565A>C (p.Tyr522Ser) c.1688A>C (p.Tyr563Ser) c.1178A>C (p.Tyr393Ser) c.1355A>C (p.Tyr452Ser) c.1349A>C (p.Tyr450Ser) c.890A>C (p.Tyr297Ser) c.419A>C (p.Tyr140Ser) n.1851A>C n.2018A>C c.1766A>C (p.Tyr589Ser) c.458A>C (p.Tyr153Ser) n.2068A>C n.2041A>C | |
8 | g.141168172A>G | CA372343824 | DENND3 | c.1922A>G (p.Tyr641Cys) c.1682A>G (p.Tyr561Cys) c.1526A>G (p.Tyr509Cys) c.1695A>G n.1463A>G c.1721A>G (p.Tyr574Cys) c.1565A>G (p.Tyr522Cys) c.1688A>G (p.Tyr563Cys) c.1178A>G (p.Tyr393Cys) c.1355A>G (p.Tyr452Cys) c.1349A>G (p.Tyr450Cys) c.890A>G (p.Tyr297Cys) c.419A>G (p.Tyr140Cys) n.1851A>G n.2018A>G c.1766A>G (p.Tyr589Cys) c.458A>G (p.Tyr153Cys) n.2068A>G n.2041A>G | |
8 | g.141168172A>T | CA372343823 | DENND3 | c.1922A>T (p.Tyr641Phe) c.1682A>T (p.Tyr561Phe) c.1526A>T (p.Tyr509Phe) c.1695A>T n.1463A>T c.1721A>T (p.Tyr574Phe) c.1565A>T (p.Tyr522Phe) c.1688A>T (p.Tyr563Phe) c.1178A>T (p.Tyr393Phe) c.1355A>T (p.Tyr452Phe) c.1349A>T (p.Tyr450Phe) c.890A>T (p.Tyr297Phe) c.419A>T (p.Tyr140Phe) n.1851A>T n.2018A>T c.1766A>T (p.Tyr589Phe) c.458A>T (p.Tyr153Phe) n.2068A>T n.2041A>T | |
8 | g.141168173C>A | CA372343826 | DENND3 | c.1923C>A (p.Tyr641Ter) c.1683C>A (p.Tyr561Ter) c.1527C>A (p.Tyr509Ter) c.1696C>A n.1464C>A c.1722C>A (p.Tyr574Ter) c.1566C>A (p.Tyr522Ter) c.1689C>A (p.Tyr563Ter) c.1179C>A (p.Tyr393Ter) c.1356C>A (p.Tyr452Ter) c.1350C>A (p.Tyr450Ter) c.891C>A (p.Tyr297Ter) c.420C>A (p.Tyr140Ter) n.1852C>A n.2019C>A c.1767C>A (p.Tyr589Ter) c.459C>A (p.Tyr153Ter) n.2069C>A n.2042C>A | gnomAD v4 |
8 | g.141168173C>G | CA372343827 | DENND3 | c.1923C>G (p.Tyr641Ter) c.1683C>G (p.Tyr561Ter) c.1527C>G (p.Tyr509Ter) c.1696C>G n.1464C>G c.1722C>G (p.Tyr574Ter) c.1566C>G (p.Tyr522Ter) c.1689C>G (p.Tyr563Ter) c.1179C>G (p.Tyr393Ter) c.1356C>G (p.Tyr452Ter) c.1350C>G (p.Tyr450Ter) c.891C>G (p.Tyr297Ter) c.420C>G (p.Tyr140Ter) n.1852C>G n.2019C>G c.1767C>G (p.Tyr589Ter) c.459C>G (p.Tyr153Ter) n.2069C>G n.2042C>G | |
8 | g.141168173C>T | CA463493373 | DENND3 | c.1923C>T (p.Tyr641=) c.1683C>T (p.Tyr561=) c.1527C>T (p.Tyr509=) c.1696C>T n.1464C>T c.1722C>T (p.Tyr574=) c.1566C>T (p.Tyr522=) c.1689C>T (p.Tyr563=) c.1179C>T (p.Tyr393=) c.1356C>T (p.Tyr452=) c.1350C>T (p.Tyr450=) c.891C>T (p.Tyr297=) c.420C>T (p.Tyr140=) n.1852C>T n.2019C>T c.1767C>T (p.Tyr589=) c.459C>T (p.Tyr153=) n.2069C>T n.2042C>T | |
8 | g.141168174C>A | CA372343828 | DENND3 | c.1924C>A (p.Leu642Ile) c.1684C>A (p.Leu562Ile) c.1528C>A (p.Leu510Ile) c.1697C>A n.1465C>A c.1723C>A (p.Leu575Ile) c.1567C>A (p.Leu523Ile) c.1690C>A (p.Leu564Ile) c.1180C>A (p.Leu394Ile) c.1357C>A (p.Leu453Ile) c.1351C>A (p.Leu451Ile) c.892C>A (p.Leu298Ile) c.421C>A (p.Leu141Ile) n.1853C>A n.2020C>A c.1768C>A (p.Leu590Ile) c.460C>A (p.Leu154Ile) n.2070C>A n.2043C>A | |
8 | g.141168174C>G | CA372343829 | DENND3 | c.1924C>G (p.Leu642Val) c.1684C>G (p.Leu562Val) c.1528C>G (p.Leu510Val) c.1697C>G n.1465C>G c.1723C>G (p.Leu575Val) c.1567C>G (p.Leu523Val) c.1690C>G (p.Leu564Val) c.1180C>G (p.Leu394Val) c.1357C>G (p.Leu453Val) c.1351C>G (p.Leu451Val) c.892C>G (p.Leu298Val) c.421C>G (p.Leu141Val) n.1853C>G n.2020C>G c.1768C>G (p.Leu590Val) c.460C>G (p.Leu154Val) n.2070C>G n.2043C>G | |
8 | g.141168174C>T | CA187325666 | DENND3 | c.1924C>T (p.Leu642Phe) c.1684C>T (p.Leu562Phe) c.1528C>T (p.Leu510Phe) c.1697C>T n.1465C>T c.1723C>T (p.Leu575Phe) c.1567C>T (p.Leu523Phe) c.1690C>T (p.Leu564Phe) c.1180C>T (p.Leu394Phe) c.1357C>T (p.Leu453Phe) c.1351C>T (p.Leu451Phe) c.892C>T (p.Leu298Phe) c.421C>T (p.Leu141Phe) n.1853C>T n.2020C>T c.1768C>T (p.Leu590Phe) c.460C>T (p.Leu154Phe) n.2070C>T n.2043C>T | dbSNP |
8 | g.141168175T>A | CA372343830 | DENND3 | c.1925T>A (p.Leu642His) c.1685T>A (p.Leu562His) c.1529T>A (p.Leu510His) c.1698T>A n.1466T>A c.1724T>A (p.Leu575His) c.1568T>A (p.Leu523His) c.1691T>A (p.Leu564His) c.1181T>A (p.Leu394His) c.1358T>A (p.Leu453His) c.1352T>A (p.Leu451His) c.893T>A (p.Leu298His) c.422T>A (p.Leu141His) n.1854T>A n.2021T>A c.1769T>A (p.Leu590His) c.461T>A (p.Leu154His) n.2071T>A n.2044T>A | |
8 | g.141168175T>C | CA372343831 | DENND3 | c.1925T>C (p.Leu642Pro) c.1685T>C (p.Leu562Pro) c.1529T>C (p.Leu510Pro) c.1698T>C n.1466T>C c.1724T>C (p.Leu575Pro) c.1568T>C (p.Leu523Pro) c.1691T>C (p.Leu564Pro) c.1181T>C (p.Leu394Pro) c.1358T>C (p.Leu453Pro) c.1352T>C (p.Leu451Pro) c.893T>C (p.Leu298Pro) c.422T>C (p.Leu141Pro) n.1854T>C n.2021T>C c.1769T>C (p.Leu590Pro) c.461T>C (p.Leu154Pro) n.2071T>C n.2044T>C | |
8 | g.141168175T>G | CA372343832 | DENND3 | c.1925T>G (p.Leu642Arg) c.1685T>G (p.Leu562Arg) c.1529T>G (p.Leu510Arg) c.1698T>G n.1466T>G c.1724T>G (p.Leu575Arg) c.1568T>G (p.Leu523Arg) c.1691T>G (p.Leu564Arg) c.1181T>G (p.Leu394Arg) c.1358T>G (p.Leu453Arg) c.1352T>G (p.Leu451Arg) c.893T>G (p.Leu298Arg) c.422T>G (p.Leu141Arg) n.1854T>G n.2021T>G c.1769T>G (p.Leu590Arg) c.461T>G (p.Leu154Arg) n.2071T>G n.2044T>G | |
8 | g.141168176C>A | CA463493383 | DENND3 | c.1926C>A (p.Leu642=) c.1686C>A (p.Leu562=) c.1530C>A (p.Leu510=) c.1699C>A n.1467C>A c.1725C>A (p.Leu575=) c.1569C>A (p.Leu523=) c.1692C>A (p.Leu564=) c.1182C>A (p.Leu394=) c.1359C>A (p.Leu453=) c.1353C>A (p.Leu451=) c.894C>A (p.Leu298=) c.423C>A (p.Leu141=) n.1855C>A n.2022C>A c.1770C>A (p.Leu590=) c.462C>A (p.Leu154=) n.2072C>A n.2045C>A | |
8 | g.141168176C>G | CA463493387 | DENND3 | c.1926C>G (p.Leu642=) c.1686C>G (p.Leu562=) c.1530C>G (p.Leu510=) c.1699C>G n.1467C>G c.1725C>G (p.Leu575=) c.1569C>G (p.Leu523=) c.1692C>G (p.Leu564=) c.1182C>G (p.Leu394=) c.1359C>G (p.Leu453=) c.1353C>G (p.Leu451=) c.894C>G (p.Leu298=) c.423C>G (p.Leu141=) n.1855C>G n.2022C>G c.1770C>G (p.Leu590=) c.462C>G (p.Leu154=) n.2072C>G n.2045C>G | |
8 | g.141168176C>T | CA463493385 | DENND3 | c.1926C>T (p.Leu642=) c.1686C>T (p.Leu562=) c.1530C>T (p.Leu510=) c.1699C>T n.1467C>T c.1725C>T (p.Leu575=) c.1569C>T (p.Leu523=) c.1692C>T (p.Leu564=) c.1182C>T (p.Leu394=) c.1359C>T (p.Leu453=) c.1353C>T (p.Leu451=) c.894C>T (p.Leu298=) c.423C>T (p.Leu141=) n.1855C>T n.2022C>T c.1770C>T (p.Leu590=) c.462C>T (p.Leu154=) n.2072C>T n.2045C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168177C>A | CA463493389 | DENND3 | c.1927C>A (p.Arg643=) c.1687C>A (p.Arg563=) c.1531C>A (p.Arg511=) c.1700C>A n.1468C>A c.1726C>A (p.Arg576=) c.1570C>A (p.Arg524=) c.1693C>A (p.Arg565=) c.1183C>A (p.Arg395=) c.1360C>A (p.Arg454=) c.1354C>A (p.Arg452=) c.895C>A (p.Arg299=) c.424C>A (p.Arg142=) n.1856C>A n.2023C>A c.1771C>A (p.Arg591=) c.463C>A (p.Arg155=) n.2073C>A n.2046C>A | |
8 | g.141168177C>G | CA372343833 | DENND3 | c.1927C>G (p.Arg643Gly) c.1687C>G (p.Arg563Gly) c.1531C>G (p.Arg511Gly) c.1700C>G n.1468C>G c.1726C>G (p.Arg576Gly) c.1570C>G (p.Arg524Gly) c.1693C>G (p.Arg565Gly) c.1183C>G (p.Arg395Gly) c.1360C>G (p.Arg454Gly) c.1354C>G (p.Arg452Gly) c.895C>G (p.Arg299Gly) c.424C>G (p.Arg142Gly) n.1856C>G n.2023C>G c.1771C>G (p.Arg591Gly) c.463C>G (p.Arg155Gly) n.2073C>G n.2046C>G | |
8 | g.141168177C>T | CA4896777 | DENND3 | c.1927C>T (p.Arg643Ter) c.1687C>T (p.Arg563Ter) c.1531C>T (p.Arg511Ter) c.1700C>T n.1468C>T c.1726C>T (p.Arg576Ter) c.1570C>T (p.Arg524Ter) c.1693C>T (p.Arg565Ter) c.1183C>T (p.Arg395Ter) c.1360C>T (p.Arg454Ter) c.1354C>T (p.Arg452Ter) c.895C>T (p.Arg299Ter) c.424C>T (p.Arg142Ter) n.1856C>T n.2023C>T c.1771C>T (p.Arg591Ter) c.463C>T (p.Arg155Ter) n.2073C>T n.2046C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168178G>A | CA372343834 | DENND3 | c.1928G>A (p.Arg643Gln) c.1688G>A (p.Arg563Gln) c.1532G>A (p.Arg511Gln) c.1701G>A n.1469G>A c.1727G>A (p.Arg576Gln) c.1571G>A (p.Arg524Gln) c.1694G>A (p.Arg565Gln) c.1184G>A (p.Arg395Gln) c.1361G>A (p.Arg454Gln) c.1355G>A (p.Arg452Gln) c.896G>A (p.Arg299Gln) c.425G>A (p.Arg142Gln) n.1857G>A n.2024G>A c.1772G>A (p.Arg591Gln) c.464G>A (p.Arg155Gln) n.2074G>A n.2047G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168178G>C | CA372343835 | DENND3 | c.1928G>C (p.Arg643Pro) c.1688G>C (p.Arg563Pro) c.1532G>C (p.Arg511Pro) c.1701G>C n.1469G>C c.1727G>C (p.Arg576Pro) c.1571G>C (p.Arg524Pro) c.1694G>C (p.Arg565Pro) c.1184G>C (p.Arg395Pro) c.1361G>C (p.Arg454Pro) c.1355G>C (p.Arg452Pro) c.896G>C (p.Arg299Pro) c.425G>C (p.Arg142Pro) n.1857G>C n.2024G>C c.1772G>C (p.Arg591Pro) c.464G>C (p.Arg155Pro) n.2074G>C n.2047G>C | gnomAD v4 |
8 | g.141168178G>T | CA372343836 | DENND3 | c.1928G>T (p.Arg643Leu) c.1688G>T (p.Arg563Leu) c.1532G>T (p.Arg511Leu) c.1701G>T n.1469G>T c.1727G>T (p.Arg576Leu) c.1571G>T (p.Arg524Leu) c.1694G>T (p.Arg565Leu) c.1184G>T (p.Arg395Leu) c.1361G>T (p.Arg454Leu) c.1355G>T (p.Arg452Leu) c.896G>T (p.Arg299Leu) c.425G>T (p.Arg142Leu) n.1857G>T n.2024G>T c.1772G>T (p.Arg591Leu) c.464G>T (p.Arg155Leu) n.2074G>T n.2047G>T | COSMIC |
8 | g.141168179A>C | CA463493399 | DENND3 | c.1929A>C (p.Arg643=) c.1689A>C (p.Arg563=) c.1533A>C (p.Arg511=) c.1702A>C n.1470A>C c.1728A>C (p.Arg576=) c.1572A>C (p.Arg524=) c.1695A>C (p.Arg565=) c.1185A>C (p.Arg395=) c.1362A>C (p.Arg454=) c.1356A>C (p.Arg452=) c.897A>C (p.Arg299=) c.426A>C (p.Arg142=) n.1858A>C n.2025A>C c.1773A>C (p.Arg591=) c.465A>C (p.Arg155=) n.2075A>C n.2048A>C | |
8 | g.141168179A>G | CA463493400 | DENND3 | c.1929A>G (p.Arg643=) c.1689A>G (p.Arg563=) c.1533A>G (p.Arg511=) c.1702A>G n.1470A>G c.1728A>G (p.Arg576=) c.1572A>G (p.Arg524=) c.1695A>G (p.Arg565=) c.1185A>G (p.Arg395=) c.1362A>G (p.Arg454=) c.1356A>G (p.Arg452=) c.897A>G (p.Arg299=) c.426A>G (p.Arg142=) n.1858A>G n.2025A>G c.1773A>G (p.Arg591=) c.465A>G (p.Arg155=) n.2075A>G n.2048A>G | |
8 | g.141168179A>T | CA463493403 | DENND3 | c.1929A>T (p.Arg643=) c.1689A>T (p.Arg563=) c.1533A>T (p.Arg511=) c.1702A>T n.1470A>T c.1728A>T (p.Arg576=) c.1572A>T (p.Arg524=) c.1695A>T (p.Arg565=) c.1185A>T (p.Arg395=) c.1362A>T (p.Arg454=) c.1356A>T (p.Arg452=) c.897A>T (p.Arg299=) c.426A>T (p.Arg142=) n.1858A>T n.2025A>T c.1773A>T (p.Arg591=) c.465A>T (p.Arg155=) n.2075A>T n.2048A>T | |
8 | g.141168180G>A | CA372343838 | DENND3 | c.1930G>A (p.Gly644Arg) c.1690G>A (p.Gly564Arg) c.1534G>A (p.Gly512Arg) c.1703G>A n.1471G>A c.1729G>A (p.Gly577Arg) c.1573G>A (p.Gly525Arg) c.1696G>A (p.Gly566Arg) c.1186G>A (p.Gly396Arg) c.1363G>A (p.Gly455Arg) c.1357G>A (p.Gly453Arg) c.898G>A (p.Gly300Arg) c.427G>A (p.Gly143Arg) n.1859G>A n.2026G>A c.1774G>A (p.Gly592Arg) c.466G>A (p.Gly156Arg) n.2076G>A n.2049G>A | |
8 | g.141168180G>C | CA372343839 | DENND3 | c.1930G>C (p.Gly644Arg) c.1690G>C (p.Gly564Arg) c.1534G>C (p.Gly512Arg) c.1703G>C n.1471G>C c.1729G>C (p.Gly577Arg) c.1573G>C (p.Gly525Arg) c.1696G>C (p.Gly566Arg) c.1186G>C (p.Gly396Arg) c.1363G>C (p.Gly455Arg) c.1357G>C (p.Gly453Arg) c.898G>C (p.Gly300Arg) c.427G>C (p.Gly143Arg) n.1859G>C n.2026G>C c.1774G>C (p.Gly592Arg) c.466G>C (p.Gly156Arg) n.2076G>C n.2049G>C | |
8 | g.141168180G>T | CA372343837 | DENND3 | c.1930G>T (p.Gly644Trp) c.1690G>T (p.Gly564Trp) c.1534G>T (p.Gly512Trp) c.1703G>T n.1471G>T c.1729G>T (p.Gly577Trp) c.1573G>T (p.Gly525Trp) c.1696G>T (p.Gly566Trp) c.1186G>T (p.Gly396Trp) c.1363G>T (p.Gly455Trp) c.1357G>T (p.Gly453Trp) c.898G>T (p.Gly300Trp) c.427G>T (p.Gly143Trp) n.1859G>T n.2026G>T c.1774G>T (p.Gly592Trp) c.466G>T (p.Gly156Trp) n.2076G>T n.2049G>T | |
8 | g.141168181G>A | CA372343840 | DENND3 | c.1931G>A (p.Gly644Glu) c.1691G>A (p.Gly564Glu) c.1535G>A (p.Gly512Glu) c.1704G>A n.1472G>A c.1730G>A (p.Gly577Glu) c.1574G>A (p.Gly525Glu) c.1697G>A (p.Gly566Glu) c.1187G>A (p.Gly396Glu) c.1364G>A (p.Gly455Glu) c.1358G>A (p.Gly453Glu) c.899G>A (p.Gly300Glu) c.428G>A (p.Gly143Glu) n.1860G>A n.2027G>A c.1775G>A (p.Gly592Glu) c.467G>A (p.Gly156Glu) n.2077G>A n.2050G>A | |
8 | g.141168181G>C | CA372343841 | DENND3 | c.1931G>C (p.Gly644Ala) c.1691G>C (p.Gly564Ala) c.1535G>C (p.Gly512Ala) c.1704G>C n.1472G>C c.1730G>C (p.Gly577Ala) c.1574G>C (p.Gly525Ala) c.1697G>C (p.Gly566Ala) c.1187G>C (p.Gly396Ala) c.1364G>C (p.Gly455Ala) c.1358G>C (p.Gly453Ala) c.899G>C (p.Gly300Ala) c.428G>C (p.Gly143Ala) n.1860G>C n.2027G>C c.1775G>C (p.Gly592Ala) c.467G>C (p.Gly156Ala) n.2077G>C n.2050G>C | |
8 | g.141168181G>T | CA372343842 | DENND3 | c.1931G>T (p.Gly644Val) c.1691G>T (p.Gly564Val) c.1535G>T (p.Gly512Val) c.1704G>T n.1472G>T c.1730G>T (p.Gly577Val) c.1574G>T (p.Gly525Val) c.1697G>T (p.Gly566Val) c.1187G>T (p.Gly396Val) c.1364G>T (p.Gly455Val) c.1358G>T (p.Gly453Val) c.899G>T (p.Gly300Val) c.428G>T (p.Gly143Val) n.1860G>T n.2027G>T c.1775G>T (p.Gly592Val) c.467G>T (p.Gly156Val) n.2077G>T n.2050G>T | |
8 | g.141168182G>A | CA463493413 | DENND3 | c.1932G>A (p.Gly644=) c.1692G>A (p.Gly564=) c.1536G>A (p.Gly512=) c.1705G>A n.1473G>A c.1731G>A (p.Gly577=) c.1575G>A (p.Gly525=) c.1698G>A (p.Gly566=) c.1188G>A (p.Gly396=) c.1365G>A (p.Gly455=) c.1359G>A (p.Gly453=) c.900G>A (p.Gly300=) c.429G>A (p.Gly143=) n.1861G>A n.2028G>A c.1776G>A (p.Gly592=) c.468G>A (p.Gly156=) n.2078G>A n.2051G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168182G>C | CA187325668 | DENND3 | c.1932G>C (p.Gly644=) c.1692G>C (p.Gly564=) c.1536G>C (p.Gly512=) c.1705G>C n.1473G>C c.1731G>C (p.Gly577=) c.1575G>C (p.Gly525=) c.1698G>C (p.Gly566=) c.1188G>C (p.Gly396=) c.1365G>C (p.Gly455=) c.1359G>C (p.Gly453=) c.900G>C (p.Gly300=) c.429G>C (p.Gly143=) n.1861G>C n.2028G>C c.1776G>C (p.Gly592=) c.468G>C (p.Gly156=) n.2078G>C n.2051G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168182G>T | CA463493415 | DENND3 | c.1932G>T (p.Gly644=) c.1692G>T (p.Gly564=) c.1536G>T (p.Gly512=) c.1705G>T n.1473G>T c.1731G>T (p.Gly577=) c.1575G>T (p.Gly525=) c.1698G>T (p.Gly566=) c.1188G>T (p.Gly396=) c.1365G>T (p.Gly455=) c.1359G>T (p.Gly453=) c.900G>T (p.Gly300=) c.429G>T (p.Gly143=) n.1861G>T n.2028G>T c.1776G>T (p.Gly592=) c.468G>T (p.Gly156=) n.2078G>T n.2051G>T | |
8 | g.141168183C>A | CA372343843 | DENND3 | c.1933C>A (p.Leu645Ile) c.1693C>A (p.Leu565Ile) c.1537C>A (p.Leu513Ile) c.1706C>A n.1474C>A c.1732C>A (p.Leu578Ile) c.1576C>A (p.Leu526Ile) c.1699C>A (p.Leu567Ile) c.1189C>A (p.Leu397Ile) c.1366C>A (p.Leu456Ile) c.1360C>A (p.Leu454Ile) c.901C>A (p.Leu301Ile) c.430C>A (p.Leu144Ile) n.1862C>A n.2029C>A c.1777C>A (p.Leu593Ile) c.469C>A (p.Leu157Ile) n.2079C>A n.2052C>A | |
8 | g.141168183C>G | CA372343844 | DENND3 | c.1933C>G (p.Leu645Val) c.1693C>G (p.Leu565Val) c.1537C>G (p.Leu513Val) c.1706C>G n.1474C>G c.1732C>G (p.Leu578Val) c.1576C>G (p.Leu526Val) c.1699C>G (p.Leu567Val) c.1189C>G (p.Leu397Val) c.1366C>G (p.Leu456Val) c.1360C>G (p.Leu454Val) c.901C>G (p.Leu301Val) c.430C>G (p.Leu144Val) n.1862C>G n.2029C>G c.1777C>G (p.Leu593Val) c.469C>G (p.Leu157Val) n.2079C>G n.2052C>G | |
8 | g.141168183C>T | CA372343845 | DENND3 | c.1933C>T (p.Leu645Phe) c.1693C>T (p.Leu565Phe) c.1537C>T (p.Leu513Phe) c.1706C>T n.1474C>T c.1732C>T (p.Leu578Phe) c.1576C>T (p.Leu526Phe) c.1699C>T (p.Leu567Phe) c.1189C>T (p.Leu397Phe) c.1366C>T (p.Leu456Phe) c.1360C>T (p.Leu454Phe) c.901C>T (p.Leu301Phe) c.430C>T (p.Leu144Phe) n.1862C>T n.2029C>T c.1777C>T (p.Leu593Phe) c.469C>T (p.Leu157Phe) n.2079C>T n.2052C>T | |
8 | g.141168184T>A | CA372343846 | DENND3 | c.1934T>A (p.Leu645His) c.1694T>A (p.Leu565His) c.1538T>A (p.Leu513His) c.1707T>A n.1475T>A c.1733T>A (p.Leu578His) c.1577T>A (p.Leu526His) c.1700T>A (p.Leu567His) c.1190T>A (p.Leu397His) c.1367T>A (p.Leu456His) c.1361T>A (p.Leu454His) c.902T>A (p.Leu301His) c.431T>A (p.Leu144His) n.1863T>A n.2030T>A c.1778T>A (p.Leu593His) c.470T>A (p.Leu157His) n.2080T>A n.2053T>A | |
8 | g.141168184T>C | CA372343847 | DENND3 | c.1934T>C (p.Leu645Pro) c.1694T>C (p.Leu565Pro) c.1538T>C (p.Leu513Pro) c.1707T>C n.1475T>C c.1733T>C (p.Leu578Pro) c.1577T>C (p.Leu526Pro) c.1700T>C (p.Leu567Pro) c.1190T>C (p.Leu397Pro) c.1367T>C (p.Leu456Pro) c.1361T>C (p.Leu454Pro) c.902T>C (p.Leu301Pro) c.431T>C (p.Leu144Pro) n.1863T>C n.2030T>C c.1778T>C (p.Leu593Pro) c.470T>C (p.Leu157Pro) n.2080T>C n.2053T>C | |
8 | g.141168184T>G | CA372343848 | DENND3 | c.1934T>G (p.Leu645Arg) c.1694T>G (p.Leu565Arg) c.1538T>G (p.Leu513Arg) c.1707T>G n.1475T>G c.1733T>G (p.Leu578Arg) c.1577T>G (p.Leu526Arg) c.1700T>G (p.Leu567Arg) c.1190T>G (p.Leu397Arg) c.1367T>G (p.Leu456Arg) c.1361T>G (p.Leu454Arg) c.902T>G (p.Leu301Arg) c.431T>G (p.Leu144Arg) n.1863T>G n.2030T>G c.1778T>G (p.Leu593Arg) c.470T>G (p.Leu157Arg) n.2080T>G n.2053T>G | |
8 | g.141168185C>A | CA463493426 | DENND3 | c.1935C>A (p.Leu645=) c.1695C>A (p.Leu565=) c.1539C>A (p.Leu513=) c.1708C>A n.1476C>A c.1734C>A (p.Leu578=) c.1578C>A (p.Leu526=) c.1701C>A (p.Leu567=) c.1191C>A (p.Leu397=) c.1368C>A (p.Leu456=) c.1362C>A (p.Leu454=) c.903C>A (p.Leu301=) c.432C>A (p.Leu144=) n.1864C>A n.2031C>A c.1779C>A (p.Leu593=) c.471C>A (p.Leu157=) n.2081C>A n.2054C>A | |
8 | g.141168185C>G | CA463493428 | DENND3 | c.1935C>G (p.Leu645=) c.1695C>G (p.Leu565=) c.1539C>G (p.Leu513=) c.1708C>G n.1476C>G c.1734C>G (p.Leu578=) c.1578C>G (p.Leu526=) c.1701C>G (p.Leu567=) c.1191C>G (p.Leu397=) c.1368C>G (p.Leu456=) c.1362C>G (p.Leu454=) c.903C>G (p.Leu301=) c.432C>G (p.Leu144=) n.1864C>G n.2031C>G c.1779C>G (p.Leu593=) c.471C>G (p.Leu157=) n.2081C>G n.2054C>G | |
8 | g.141168185C>T | CA4896778 | DENND3 | c.1935C>T (p.Leu645=) c.1695C>T (p.Leu565=) c.1539C>T (p.Leu513=) c.1708C>T n.1476C>T c.1734C>T (p.Leu578=) c.1578C>T (p.Leu526=) c.1701C>T (p.Leu567=) c.1191C>T (p.Leu397=) c.1368C>T (p.Leu456=) c.1362C>T (p.Leu454=) c.903C>T (p.Leu301=) c.432C>T (p.Leu144=) n.1864C>T n.2031C>T c.1779C>T (p.Leu593=) c.471C>T (p.Leu157=) n.2081C>T n.2054C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168186G>A | CA4896779 | DENND3 | c.1936G>A (p.Val646Ile) c.1696G>A (p.Val566Ile) c.1540G>A (p.Val514Ile) c.1709G>A n.1477G>A c.1735G>A (p.Val579Ile) c.1579G>A (p.Val527Ile) c.1702G>A (p.Val568Ile) c.1192G>A (p.Val398Ile) c.1369G>A (p.Val457Ile) c.1363G>A (p.Val455Ile) c.904G>A (p.Val302Ile) c.433G>A (p.Val145Ile) n.1865G>A n.2032G>A c.1780G>A (p.Val594Ile) c.472G>A (p.Val158Ile) n.2082G>A n.2055G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168186G>C | CA372343849 | DENND3 | c.1936G>C (p.Val646Leu) c.1696G>C (p.Val566Leu) c.1540G>C (p.Val514Leu) c.1709G>C n.1477G>C c.1735G>C (p.Val579Leu) c.1579G>C (p.Val527Leu) c.1702G>C (p.Val568Leu) c.1192G>C (p.Val398Leu) c.1369G>C (p.Val457Leu) c.1363G>C (p.Val455Leu) c.904G>C (p.Val302Leu) c.433G>C (p.Val145Leu) n.1865G>C n.2032G>C c.1780G>C (p.Val594Leu) c.472G>C (p.Val158Leu) n.2082G>C n.2055G>C | |
8 | g.141168186G>T | CA372343850 | DENND3 | c.1936G>T (p.Val646Phe) c.1696G>T (p.Val566Phe) c.1540G>T (p.Val514Phe) c.1709G>T n.1477G>T c.1735G>T (p.Val579Phe) c.1579G>T (p.Val527Phe) c.1702G>T (p.Val568Phe) c.1192G>T (p.Val398Phe) c.1369G>T (p.Val457Phe) c.1363G>T (p.Val455Phe) c.904G>T (p.Val302Phe) c.433G>T (p.Val145Phe) n.1865G>T n.2032G>T c.1780G>T (p.Val594Phe) c.472G>T (p.Val158Phe) n.2082G>T n.2055G>T | |
8 | g.141168187T>A | CA372343853 | DENND3 | c.1937T>A (p.Val646Asp) c.1697T>A (p.Val566Asp) c.1541T>A (p.Val514Asp) c.1710T>A n.1478T>A c.1736T>A (p.Val579Asp) c.1580T>A (p.Val527Asp) c.1703T>A (p.Val568Asp) c.1193T>A (p.Val398Asp) c.1370T>A (p.Val457Asp) c.1364T>A (p.Val455Asp) c.905T>A (p.Val302Asp) c.434T>A (p.Val145Asp) n.1866T>A n.2033T>A c.1781T>A (p.Val594Asp) c.473T>A (p.Val158Asp) n.2083T>A n.2056T>A | |
8 | g.141168187T>C | CA372343852 | DENND3 | c.1937T>C (p.Val646Ala) c.1697T>C (p.Val566Ala) c.1541T>C (p.Val514Ala) c.1710T>C n.1478T>C c.1736T>C (p.Val579Ala) c.1580T>C (p.Val527Ala) c.1703T>C (p.Val568Ala) c.1193T>C (p.Val398Ala) c.1370T>C (p.Val457Ala) c.1364T>C (p.Val455Ala) c.905T>C (p.Val302Ala) c.434T>C (p.Val145Ala) n.1866T>C n.2033T>C c.1781T>C (p.Val594Ala) c.473T>C (p.Val158Ala) n.2083T>C n.2056T>C | |
8 | g.141168187T>G | CA372343851 | DENND3 | c.1937T>G (p.Val646Gly) c.1697T>G (p.Val566Gly) c.1541T>G (p.Val514Gly) c.1710T>G n.1478T>G c.1736T>G (p.Val579Gly) c.1580T>G (p.Val527Gly) c.1703T>G (p.Val568Gly) c.1193T>G (p.Val398Gly) c.1370T>G (p.Val457Gly) c.1364T>G (p.Val455Gly) c.905T>G (p.Val302Gly) c.434T>G (p.Val145Gly) n.1866T>G n.2033T>G c.1781T>G (p.Val594Gly) c.473T>G (p.Val158Gly) n.2083T>G n.2056T>G | |
8 | g.141168188_141168189dup | CA2579262220 | DENND3 | c.1938_1939dup (p.Tyr647PhefsTer3) c.1698_1699dup (p.Tyr567PhefsTer3) c.1542_1543dup (p.Tyr515PhefsTer3) c.1711_1712dup n.1479_1480dup c.1737_1738dup (p.Tyr580PhefsTer3) c.1581_1582dup (p.Tyr528PhefsTer3) c.1704_1705dup (p.Tyr569PhefsTer3) c.1194_1195dup (p.Tyr399PhefsTer3) c.1371_1372dup (p.Tyr458PhefsTer3) c.1365_1366dup (p.Tyr456PhefsTer3) c.906_907dup (p.Tyr303PhefsTer3) c.435_436dup (p.Tyr146PhefsTer3) n.1867_1868dup n.2034_2035dup c.1782_1783dup (p.Tyr595PhefsTer3) c.474_475dup (p.Tyr159PhefsTer3) n.2084_2085dup n.2057_2058dup | |
8 | g.141168188T>A | CA463493441 | DENND3 | c.1938T>A (p.Val646=) c.1698T>A (p.Val566=) c.1542T>A (p.Val514=) c.1711T>A n.1479T>A c.1737T>A (p.Val579=) c.1581T>A (p.Val527=) c.1704T>A (p.Val568=) c.1194T>A (p.Val398=) c.1371T>A (p.Val457=) c.1365T>A (p.Val455=) c.906T>A (p.Val302=) c.435T>A (p.Val145=) n.1867T>A n.2034T>A c.1782T>A (p.Val594=) c.474T>A (p.Val158=) n.2084T>A n.2057T>A | |
8 | g.141168188T>C | CA463493442 | DENND3 | c.1938T>C (p.Val646=) c.1698T>C (p.Val566=) c.1542T>C (p.Val514=) c.1711T>C n.1479T>C c.1737T>C (p.Val579=) c.1581T>C (p.Val527=) c.1704T>C (p.Val568=) c.1194T>C (p.Val398=) c.1371T>C (p.Val457=) c.1365T>C (p.Val455=) c.906T>C (p.Val302=) c.435T>C (p.Val145=) n.1867T>C n.2034T>C c.1782T>C (p.Val594=) c.474T>C (p.Val158=) n.2084T>C n.2057T>C | |
8 | g.141168188T>G | CA463493443 | DENND3 | c.1938T>G (p.Val646=) c.1698T>G (p.Val566=) c.1542T>G (p.Val514=) c.1711T>G n.1479T>G c.1737T>G (p.Val579=) c.1581T>G (p.Val527=) c.1704T>G (p.Val568=) c.1194T>G (p.Val398=) c.1371T>G (p.Val457=) c.1365T>G (p.Val455=) c.906T>G (p.Val302=) c.435T>G (p.Val145=) n.1867T>G n.2034T>G c.1782T>G (p.Val594=) c.474T>G (p.Val158=) n.2084T>G n.2057T>G | |
8 | g.141168189T>A | CA372343854 | DENND3 | c.1939T>A (p.Tyr647Asn) c.1699T>A (p.Tyr567Asn) c.1543T>A (p.Tyr515Asn) c.1712T>A n.1480T>A c.1738T>A (p.Tyr580Asn) c.1582T>A (p.Tyr528Asn) c.1705T>A (p.Tyr569Asn) c.1195T>A (p.Tyr399Asn) c.1372T>A (p.Tyr458Asn) c.1366T>A (p.Tyr456Asn) c.907T>A (p.Tyr303Asn) c.436T>A (p.Tyr146Asn) n.1868T>A n.2035T>A c.1783T>A (p.Tyr595Asn) c.475T>A (p.Tyr159Asn) n.2085T>A n.2058T>A | |
8 | g.141168189T>C | CA372343855 | DENND3 | c.1939T>C (p.Tyr647His) c.1699T>C (p.Tyr567His) c.1543T>C (p.Tyr515His) c.1712T>C n.1480T>C c.1738T>C (p.Tyr580His) c.1582T>C (p.Tyr528His) c.1705T>C (p.Tyr569His) c.1195T>C (p.Tyr399His) c.1372T>C (p.Tyr458His) c.1366T>C (p.Tyr456His) c.907T>C (p.Tyr303His) c.436T>C (p.Tyr146His) n.1868T>C n.2035T>C c.1783T>C (p.Tyr595His) c.475T>C (p.Tyr159His) n.2085T>C n.2058T>C | |
8 | g.141168189T>G | CA372343856 | DENND3 | c.1939T>G (p.Tyr647Asp) c.1699T>G (p.Tyr567Asp) c.1543T>G (p.Tyr515Asp) c.1712T>G n.1480T>G c.1738T>G (p.Tyr580Asp) c.1582T>G (p.Tyr528Asp) c.1705T>G (p.Tyr569Asp) c.1195T>G (p.Tyr399Asp) c.1372T>G (p.Tyr458Asp) c.1366T>G (p.Tyr456Asp) c.907T>G (p.Tyr303Asp) c.436T>G (p.Tyr146Asp) n.1868T>G n.2035T>G c.1783T>G (p.Tyr595Asp) c.475T>G (p.Tyr159Asp) n.2085T>G n.2058T>G | |
8 | g.141168190A>C | CA372343857 | DENND3 | c.1940A>C (p.Tyr647Ser) c.1700A>C (p.Tyr567Ser) c.1544A>C (p.Tyr515Ser) c.1713A>C n.1481A>C c.1739A>C (p.Tyr580Ser) c.1583A>C (p.Tyr528Ser) c.1706A>C (p.Tyr569Ser) c.1196A>C (p.Tyr399Ser) c.1373A>C (p.Tyr458Ser) c.1367A>C (p.Tyr456Ser) c.908A>C (p.Tyr303Ser) c.437A>C (p.Tyr146Ser) n.1869A>C n.2036A>C c.1784A>C (p.Tyr595Ser) c.476A>C (p.Tyr159Ser) n.2086A>C n.2059A>C | |
8 | g.141168190A>G | CA372343858 | DENND3 | c.1940A>G (p.Tyr647Cys) c.1700A>G (p.Tyr567Cys) c.1544A>G (p.Tyr515Cys) c.1713A>G n.1481A>G c.1739A>G (p.Tyr580Cys) c.1583A>G (p.Tyr528Cys) c.1706A>G (p.Tyr569Cys) c.1196A>G (p.Tyr399Cys) c.1373A>G (p.Tyr458Cys) c.1367A>G (p.Tyr456Cys) c.908A>G (p.Tyr303Cys) c.437A>G (p.Tyr146Cys) n.1869A>G n.2036A>G c.1784A>G (p.Tyr595Cys) c.476A>G (p.Tyr159Cys) n.2086A>G n.2059A>G | |
8 | g.141168190A>T | CA372343859 | DENND3 | c.1940A>T (p.Tyr647Phe) c.1700A>T (p.Tyr567Phe) c.1544A>T (p.Tyr515Phe) c.1713A>T n.1481A>T c.1739A>T (p.Tyr580Phe) c.1583A>T (p.Tyr528Phe) c.1706A>T (p.Tyr569Phe) c.1196A>T (p.Tyr399Phe) c.1373A>T (p.Tyr458Phe) c.1367A>T (p.Tyr456Phe) c.908A>T (p.Tyr303Phe) c.437A>T (p.Tyr146Phe) n.1869A>T n.2036A>T c.1784A>T (p.Tyr595Phe) c.476A>T (p.Tyr159Phe) n.2086A>T n.2059A>T | |
8 | g.141168191T>A | CA372343860 | DENND3 | c.1941T>A (p.Tyr647Ter) c.1701T>A (p.Tyr567Ter) c.1545T>A (p.Tyr515Ter) c.1714T>A n.1482T>A c.1740T>A (p.Tyr580Ter) c.1584T>A (p.Tyr528Ter) c.1707T>A (p.Tyr569Ter) c.1197T>A (p.Tyr399Ter) c.1374T>A (p.Tyr458Ter) c.1368T>A (p.Tyr456Ter) c.909T>A (p.Tyr303Ter) c.438T>A (p.Tyr146Ter) n.1870T>A n.2037T>A c.1785T>A (p.Tyr595Ter) c.477T>A (p.Tyr159Ter) n.2087T>A n.2060T>A | |
8 | g.141168191T>C | CA463493453 | DENND3 | c.1941T>C (p.Tyr647=) c.1701T>C (p.Tyr567=) c.1545T>C (p.Tyr515=) c.1714T>C n.1482T>C c.1740T>C (p.Tyr580=) c.1584T>C (p.Tyr528=) c.1707T>C (p.Tyr569=) c.1197T>C (p.Tyr399=) c.1374T>C (p.Tyr458=) c.1368T>C (p.Tyr456=) c.909T>C (p.Tyr303=) c.438T>C (p.Tyr146=) n.1870T>C n.2037T>C c.1785T>C (p.Tyr595=) c.477T>C (p.Tyr159=) n.2087T>C n.2060T>C | gnomAD v4 |
8 | g.141168191T>G | CA372343861 | DENND3 | c.1941T>G (p.Tyr647Ter) c.1701T>G (p.Tyr567Ter) c.1545T>G (p.Tyr515Ter) c.1714T>G n.1482T>G c.1740T>G (p.Tyr580Ter) c.1584T>G (p.Tyr528Ter) c.1707T>G (p.Tyr569Ter) c.1197T>G (p.Tyr399Ter) c.1374T>G (p.Tyr458Ter) c.1368T>G (p.Tyr456Ter) c.909T>G (p.Tyr303Ter) c.438T>G (p.Tyr146Ter) n.1870T>G n.2037T>G c.1785T>G (p.Tyr595Ter) c.477T>G (p.Tyr159Ter) n.2087T>G n.2060T>G | |
8 | g.141168192C>A | CA372343862 | DENND3 | c.1942C>A (p.Leu648Met) c.1702C>A (p.Leu568Met) c.1546C>A (p.Leu516Met) c.1715C>A n.1483C>A c.1741C>A (p.Leu581Met) c.1585C>A (p.Leu529Met) c.1708C>A (p.Leu570Met) c.1198C>A (p.Leu400Met) c.1375C>A (p.Leu459Met) c.1369C>A (p.Leu457Met) c.910C>A (p.Leu304Met) c.439C>A (p.Leu147Met) n.1871C>A n.2038C>A c.1786C>A (p.Leu596Met) c.478C>A (p.Leu160Met) n.2088C>A n.2061C>A | |
8 | g.141168192C>G | CA372343863 | DENND3 | c.1942C>G (p.Leu648Val) c.1702C>G (p.Leu568Val) c.1546C>G (p.Leu516Val) c.1715C>G n.1483C>G c.1741C>G (p.Leu581Val) c.1585C>G (p.Leu529Val) c.1708C>G (p.Leu570Val) c.1198C>G (p.Leu400Val) c.1375C>G (p.Leu459Val) c.1369C>G (p.Leu457Val) c.910C>G (p.Leu304Val) c.439C>G (p.Leu147Val) n.1871C>G n.2038C>G c.1786C>G (p.Leu596Val) c.478C>G (p.Leu160Val) n.2088C>G n.2061C>G | gnomAD v4 |
8 | g.141168192C>T | CA463493455 | DENND3 | c.1942C>T (p.Leu648=) c.1702C>T (p.Leu568=) c.1546C>T (p.Leu516=) c.1715C>T n.1483C>T c.1741C>T (p.Leu581=) c.1585C>T (p.Leu529=) c.1708C>T (p.Leu570=) c.1198C>T (p.Leu400=) c.1375C>T (p.Leu459=) c.1369C>T (p.Leu457=) c.910C>T (p.Leu304=) c.439C>T (p.Leu147=) n.1871C>T n.2038C>T c.1786C>T (p.Leu596=) c.478C>T (p.Leu160=) n.2088C>T n.2061C>T | |
8 | g.141168193T>A | CA372343864 | DENND3 | c.1943T>A (p.Leu648Gln) c.1703T>A (p.Leu568Gln) c.1547T>A (p.Leu516Gln) c.1716T>A n.1484T>A c.1742T>A (p.Leu581Gln) c.1586T>A (p.Leu529Gln) c.1709T>A (p.Leu570Gln) c.1199T>A (p.Leu400Gln) c.1376T>A (p.Leu459Gln) c.1370T>A (p.Leu457Gln) c.911T>A (p.Leu304Gln) c.440T>A (p.Leu147Gln) n.1872T>A n.2039T>A c.1787T>A (p.Leu596Gln) c.479T>A (p.Leu160Gln) n.2089T>A n.2062T>A | |
8 | g.141168193T>C | CA372343865 | DENND3 | c.1943T>C (p.Leu648Pro) c.1703T>C (p.Leu568Pro) c.1547T>C (p.Leu516Pro) c.1716T>C n.1484T>C c.1742T>C (p.Leu581Pro) c.1586T>C (p.Leu529Pro) c.1709T>C (p.Leu570Pro) c.1199T>C (p.Leu400Pro) c.1376T>C (p.Leu459Pro) c.1370T>C (p.Leu457Pro) c.911T>C (p.Leu304Pro) c.440T>C (p.Leu147Pro) n.1872T>C n.2039T>C c.1787T>C (p.Leu596Pro) c.479T>C (p.Leu160Pro) n.2089T>C n.2062T>C | |
8 | g.141168193T>G | CA372343866 | DENND3 | c.1943T>G (p.Leu648Arg) c.1703T>G (p.Leu568Arg) c.1547T>G (p.Leu516Arg) c.1716T>G n.1484T>G c.1742T>G (p.Leu581Arg) c.1586T>G (p.Leu529Arg) c.1709T>G (p.Leu570Arg) c.1199T>G (p.Leu400Arg) c.1376T>G (p.Leu459Arg) c.1370T>G (p.Leu457Arg) c.911T>G (p.Leu304Arg) c.440T>G (p.Leu147Arg) n.1872T>G n.2039T>G c.1787T>G (p.Leu596Arg) c.479T>G (p.Leu160Arg) n.2089T>G n.2062T>G | |
8 | g.141168194G>A | CA463493462 | DENND3 | c.1944G>A (p.Leu648=) c.1704G>A (p.Leu568=) c.1548G>A (p.Leu516=) c.1717G>A n.1485G>A c.1743G>A (p.Leu581=) c.1587G>A (p.Leu529=) c.1710G>A (p.Leu570=) c.1200G>A (p.Leu400=) c.1377G>A (p.Leu459=) c.1371G>A (p.Leu457=) c.912G>A (p.Leu304=) c.441G>A (p.Leu147=) n.1873G>A n.2040G>A c.1788G>A (p.Leu596=) c.480G>A (p.Leu160=) n.2090G>A n.2063G>A | |
8 | g.141168194G>C | CA4896780 | DENND3 | c.1944G>C (p.Leu648=) c.1704G>C (p.Leu568=) c.1548G>C (p.Leu516=) c.1717G>C n.1485G>C c.1743G>C (p.Leu581=) c.1587G>C (p.Leu529=) c.1710G>C (p.Leu570=) c.1200G>C (p.Leu400=) c.1377G>C (p.Leu459=) c.1371G>C (p.Leu457=) c.912G>C (p.Leu304=) c.441G>C (p.Leu147=) n.1873G>C n.2040G>C c.1788G>C (p.Leu596=) c.480G>C (p.Leu160=) n.2090G>C n.2063G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168194G>T | CA463493468 | DENND3 | c.1944G>T (p.Leu648=) c.1704G>T (p.Leu568=) c.1548G>T (p.Leu516=) c.1717G>T n.1485G>T c.1743G>T (p.Leu581=) c.1587G>T (p.Leu529=) c.1710G>T (p.Leu570=) c.1200G>T (p.Leu400=) c.1377G>T (p.Leu459=) c.1371G>T (p.Leu457=) c.912G>T (p.Leu304=) c.441G>T (p.Leu147=) n.1873G>T n.2040G>T c.1788G>T (p.Leu596=) c.480G>T (p.Leu160=) n.2090G>T n.2063G>T | |
8 | g.141168195A>C | CA372343868 | DENND3 | c.1945A>C (p.Met649Leu) c.1705A>C (p.Met569Leu) c.1549A>C (p.Met517Leu) c.1718A>C n.1486A>C c.1744A>C (p.Met582Leu) c.1588A>C (p.Met530Leu) c.1711A>C (p.Met571Leu) c.1201A>C (p.Met401Leu) c.1378A>C (p.Met460Leu) c.1372A>C (p.Met458Leu) c.913A>C (p.Met305Leu) c.442A>C (p.Met148Leu) n.1874A>C n.2041A>C c.1789A>C (p.Met597Leu) c.481A>C (p.Met161Leu) n.2091A>C n.2064A>C | |
8 | g.141168195A>G | CA372343869 | DENND3 | c.1945A>G (p.Met649Val) c.1705A>G (p.Met569Val) c.1549A>G (p.Met517Val) c.1718A>G n.1486A>G c.1744A>G (p.Met582Val) c.1588A>G (p.Met530Val) c.1711A>G (p.Met571Val) c.1201A>G (p.Met401Val) c.1378A>G (p.Met460Val) c.1372A>G (p.Met458Val) c.913A>G (p.Met305Val) c.442A>G (p.Met148Val) n.1874A>G n.2041A>G c.1789A>G (p.Met597Val) c.481A>G (p.Met161Val) n.2091A>G n.2064A>G | |
8 | g.141168195A>T | CA372343867 | DENND3 | c.1945A>T (p.Met649Leu) c.1705A>T (p.Met569Leu) c.1549A>T (p.Met517Leu) c.1718A>T n.1486A>T c.1744A>T (p.Met582Leu) c.1588A>T (p.Met530Leu) c.1711A>T (p.Met571Leu) c.1201A>T (p.Met401Leu) c.1378A>T (p.Met460Leu) c.1372A>T (p.Met458Leu) c.913A>T (p.Met305Leu) c.442A>T (p.Met148Leu) n.1874A>T n.2041A>T c.1789A>T (p.Met597Leu) c.481A>T (p.Met161Leu) n.2091A>T n.2064A>T | |
8 | g.141168196T>A | CA372343870 | DENND3 | c.1946T>A (p.Met649Lys) c.1706T>A (p.Met569Lys) c.1550T>A (p.Met517Lys) c.1719T>A n.1487T>A c.1745T>A (p.Met582Lys) c.1589T>A (p.Met530Lys) c.1712T>A (p.Met571Lys) c.1202T>A (p.Met401Lys) c.1379T>A (p.Met460Lys) c.1373T>A (p.Met458Lys) c.914T>A (p.Met305Lys) c.443T>A (p.Met148Lys) n.1875T>A n.2042T>A c.1790T>A (p.Met597Lys) c.482T>A (p.Met161Lys) n.2092T>A n.2065T>A | |
8 | g.141168196T>C | CA4896781 | DENND3 | c.1946T>C (p.Met649Thr) c.1706T>C (p.Met569Thr) c.1550T>C (p.Met517Thr) c.1719T>C n.1487T>C c.1745T>C (p.Met582Thr) c.1589T>C (p.Met530Thr) c.1712T>C (p.Met571Thr) c.1202T>C (p.Met401Thr) c.1379T>C (p.Met460Thr) c.1373T>C (p.Met458Thr) c.914T>C (p.Met305Thr) c.443T>C (p.Met148Thr) n.1875T>C n.2042T>C c.1790T>C (p.Met597Thr) c.482T>C (p.Met161Thr) n.2092T>C n.2065T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168196T>G | CA4896782 | DENND3 | c.1946T>G (p.Met649Arg) c.1706T>G (p.Met569Arg) c.1550T>G (p.Met517Arg) c.1719T>G n.1487T>G c.1745T>G (p.Met582Arg) c.1589T>G (p.Met530Arg) c.1712T>G (p.Met571Arg) c.1202T>G (p.Met401Arg) c.1379T>G (p.Met460Arg) c.1373T>G (p.Met458Arg) c.914T>G (p.Met305Arg) c.443T>G (p.Met148Arg) n.1875T>G n.2042T>G c.1790T>G (p.Met597Arg) c.482T>G (p.Met161Arg) n.2092T>G n.2065T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168197G>A | CA372343871 | DENND3 | c.1947G>A (p.Met649Ile) c.1707G>A (p.Met569Ile) c.1551G>A (p.Met517Ile) c.1720G>A n.1488G>A c.1746G>A (p.Met582Ile) c.1590G>A (p.Met530Ile) c.1713G>A (p.Met571Ile) c.1203G>A (p.Met401Ile) c.1380G>A (p.Met460Ile) c.1374G>A (p.Met458Ile) c.915G>A (p.Met305Ile) c.444G>A (p.Met148Ile) n.1876G>A n.2043G>A c.1791G>A (p.Met597Ile) c.483G>A (p.Met161Ile) n.2093G>A n.2066G>A | |
8 | g.141168197G>C | CA372343872 | DENND3 | c.1947G>C (p.Met649Ile) c.1707G>C (p.Met569Ile) c.1551G>C (p.Met517Ile) c.1720G>C n.1488G>C c.1746G>C (p.Met582Ile) c.1590G>C (p.Met530Ile) c.1713G>C (p.Met571Ile) c.1203G>C (p.Met401Ile) c.1380G>C (p.Met460Ile) c.1374G>C (p.Met458Ile) c.915G>C (p.Met305Ile) c.444G>C (p.Met148Ile) n.1876G>C n.2043G>C c.1791G>C (p.Met597Ile) c.483G>C (p.Met161Ile) n.2093G>C n.2066G>C | |
8 | g.141168197G>T | CA372343873 | DENND3 | c.1947G>T (p.Met649Ile) c.1707G>T (p.Met569Ile) c.1551G>T (p.Met517Ile) c.1720G>T n.1488G>T c.1746G>T (p.Met582Ile) c.1590G>T (p.Met530Ile) c.1713G>T (p.Met571Ile) c.1203G>T (p.Met401Ile) c.1380G>T (p.Met460Ile) c.1374G>T (p.Met458Ile) c.915G>T (p.Met305Ile) c.444G>T (p.Met148Ile) n.1876G>T n.2043G>T c.1791G>T (p.Met597Ile) c.483G>T (p.Met161Ile) n.2093G>T n.2066G>T | |
8 | g.141168198C>A | CA372343876 | DENND3 | c.1948C>A (p.Gln650Lys) c.1708C>A (p.Gln570Lys) c.1552C>A (p.Gln518Lys) c.1721C>A n.1489C>A c.1747C>A (p.Gln583Lys) c.1591C>A (p.Gln531Lys) c.1714C>A (p.Gln572Lys) c.1204C>A (p.Gln402Lys) c.1381C>A (p.Gln461Lys) c.1375C>A (p.Gln459Lys) c.916C>A (p.Gln306Lys) c.445C>A (p.Gln149Lys) n.1877C>A n.2044C>A c.1792C>A (p.Gln598Lys) c.484C>A (p.Gln162Lys) n.2094C>A n.2067C>A | gnomAD v4 |
8 | g.141168198C>G | CA372343874 | DENND3 | c.1948C>G (p.Gln650Glu) c.1708C>G (p.Gln570Glu) c.1552C>G (p.Gln518Glu) c.1721C>G n.1489C>G c.1747C>G (p.Gln583Glu) c.1591C>G (p.Gln531Glu) c.1714C>G (p.Gln572Glu) c.1204C>G (p.Gln402Glu) c.1381C>G (p.Gln461Glu) c.1375C>G (p.Gln459Glu) c.916C>G (p.Gln306Glu) c.445C>G (p.Gln149Glu) n.1877C>G n.2044C>G c.1792C>G (p.Gln598Glu) c.484C>G (p.Gln162Glu) n.2094C>G n.2067C>G | gnomAD v4 |
8 | g.141168198C>T | CA372343875 | DENND3 | c.1948C>T (p.Gln650Ter) c.1708C>T (p.Gln570Ter) c.1552C>T (p.Gln518Ter) c.1721C>T n.1489C>T c.1747C>T (p.Gln583Ter) c.1591C>T (p.Gln531Ter) c.1714C>T (p.Gln572Ter) c.1204C>T (p.Gln402Ter) c.1381C>T (p.Gln461Ter) c.1375C>T (p.Gln459Ter) c.916C>T (p.Gln306Ter) c.445C>T (p.Gln149Ter) n.1877C>T n.2044C>T c.1792C>T (p.Gln598Ter) c.484C>T (p.Gln162Ter) n.2094C>T n.2067C>T | |
8 | g.141168199A>C | CA372343877 | DENND3 | c.1949A>C (p.Gln650Pro) c.1709A>C (p.Gln570Pro) c.1553A>C (p.Gln518Pro) c.1722A>C n.1490A>C c.1748A>C (p.Gln583Pro) c.1592A>C (p.Gln531Pro) c.1715A>C (p.Gln572Pro) c.1205A>C (p.Gln402Pro) c.1382A>C (p.Gln461Pro) c.1376A>C (p.Gln459Pro) c.917A>C (p.Gln306Pro) c.446A>C (p.Gln149Pro) n.1878A>C n.2045A>C c.1793A>C (p.Gln598Pro) c.485A>C (p.Gln162Pro) n.2095A>C n.2068A>C | |
8 | g.141168199A>G | CA372343878 | DENND3 | c.1949A>G (p.Gln650Arg) c.1709A>G (p.Gln570Arg) c.1553A>G (p.Gln518Arg) c.1722A>G n.1490A>G c.1748A>G (p.Gln583Arg) c.1592A>G (p.Gln531Arg) c.1715A>G (p.Gln572Arg) c.1205A>G (p.Gln402Arg) c.1382A>G (p.Gln461Arg) c.1376A>G (p.Gln459Arg) c.917A>G (p.Gln306Arg) c.446A>G (p.Gln149Arg) n.1878A>G n.2045A>G c.1793A>G (p.Gln598Arg) c.485A>G (p.Gln162Arg) n.2095A>G n.2068A>G | |
8 | g.141168199A>T | CA372343879 | DENND3 | c.1949A>T (p.Gln650Leu) c.1709A>T (p.Gln570Leu) c.1553A>T (p.Gln518Leu) c.1722A>T n.1490A>T c.1748A>T (p.Gln583Leu) c.1592A>T (p.Gln531Leu) c.1715A>T (p.Gln572Leu) c.1205A>T (p.Gln402Leu) c.1382A>T (p.Gln461Leu) c.1376A>T (p.Gln459Leu) c.917A>T (p.Gln306Leu) c.446A>T (p.Gln149Leu) n.1878A>T n.2045A>T c.1793A>T (p.Gln598Leu) c.485A>T (p.Gln162Leu) n.2095A>T n.2068A>T | |
8 | g.141168200G>A | CA463493494 | DENND3 | c.1950G>A (p.Gln650=) c.1710G>A (p.Gln570=) c.1554G>A (p.Gln518=) c.1723G>A n.1491G>A c.1749G>A (p.Gln583=) c.1593G>A (p.Gln531=) c.1716G>A (p.Gln572=) c.1206G>A (p.Gln402=) c.1383G>A (p.Gln461=) c.1377G>A (p.Gln459=) c.918G>A (p.Gln306=) c.447G>A (p.Gln149=) n.1879G>A n.2046G>A c.1794G>A (p.Gln598=) c.486G>A (p.Gln162=) n.2096G>A n.2069G>A | |
8 | g.141168200G>C | CA372343880 | DENND3 | c.1950G>C (p.Gln650His) c.1710G>C (p.Gln570His) c.1554G>C (p.Gln518His) c.1723G>C n.1491G>C c.1749G>C (p.Gln583His) c.1593G>C (p.Gln531His) c.1716G>C (p.Gln572His) c.1206G>C (p.Gln402His) c.1383G>C (p.Gln461His) c.1377G>C (p.Gln459His) c.918G>C (p.Gln306His) c.447G>C (p.Gln149His) n.1879G>C n.2046G>C c.1794G>C (p.Gln598His) c.486G>C (p.Gln162His) n.2096G>C n.2069G>C | |
8 | g.141168200G>T | CA372343881 | DENND3 | c.1950G>T (p.Gln650His) c.1710G>T (p.Gln570His) c.1554G>T (p.Gln518His) c.1723G>T n.1491G>T c.1749G>T (p.Gln583His) c.1593G>T (p.Gln531His) c.1716G>T (p.Gln572His) c.1206G>T (p.Gln402His) c.1383G>T (p.Gln461His) c.1377G>T (p.Gln459His) c.918G>T (p.Gln306His) c.447G>T (p.Gln149His) n.1879G>T n.2046G>T c.1794G>T (p.Gln598His) c.486G>T (p.Gln162His) n.2096G>T n.2069G>T | |
8 | g.141168201G>A | CA372343882 | DENND3 | c.1951G>A (p.Gly651Arg) c.1711G>A (p.Gly571Arg) c.1555G>A (p.Gly519Arg) c.1724G>A n.1492G>A c.1750G>A (p.Gly584Arg) c.1594G>A (p.Gly532Arg) c.1717G>A (p.Gly573Arg) c.1207G>A (p.Gly403Arg) c.1384G>A (p.Gly462Arg) c.1378G>A (p.Gly460Arg) c.919G>A (p.Gly307Arg) c.448G>A (p.Gly150Arg) n.1880G>A n.2047G>A c.1795G>A (p.Gly599Arg) c.487G>A (p.Gly163Arg) n.2097G>A n.2070G>A | |
8 | g.141168201G>C | CA372343884 | DENND3 | c.1951G>C (p.Gly651Arg) c.1711G>C (p.Gly571Arg) c.1555G>C (p.Gly519Arg) c.1724G>C n.1492G>C c.1750G>C (p.Gly584Arg) c.1594G>C (p.Gly532Arg) c.1717G>C (p.Gly573Arg) c.1207G>C (p.Gly403Arg) c.1384G>C (p.Gly462Arg) c.1378G>C (p.Gly460Arg) c.919G>C (p.Gly307Arg) c.448G>C (p.Gly150Arg) n.1880G>C n.2047G>C c.1795G>C (p.Gly599Arg) c.487G>C (p.Gly163Arg) n.2097G>C n.2070G>C | |
8 | g.141168201G>T | CA372343883 | DENND3 | c.1951G>T (p.Gly651Ter) c.1711G>T (p.Gly571Ter) c.1555G>T (p.Gly519Ter) c.1724G>T n.1492G>T c.1750G>T (p.Gly584Ter) c.1594G>T (p.Gly532Ter) c.1717G>T (p.Gly573Ter) c.1207G>T (p.Gly403Ter) c.1384G>T (p.Gly462Ter) c.1378G>T (p.Gly460Ter) c.919G>T (p.Gly307Ter) c.448G>T (p.Gly150Ter) n.1880G>T n.2047G>T c.1795G>T (p.Gly599Ter) c.487G>T (p.Gly163Ter) n.2097G>T n.2070G>T | |
8 | g.141168202G>A | CA372343885 | DENND3 | c.1952G>A (p.Gly651Glu) c.1712G>A (p.Gly571Glu) c.1556G>A (p.Gly519Glu) c.1725G>A n.1493G>A c.1751G>A (p.Gly584Glu) c.1595G>A (p.Gly532Glu) c.1718G>A (p.Gly573Glu) c.1208G>A (p.Gly403Glu) c.1385G>A (p.Gly462Glu) c.1379G>A (p.Gly460Glu) c.920G>A (p.Gly307Glu) c.449G>A (p.Gly150Glu) n.1881G>A n.2048G>A c.1796G>A (p.Gly599Glu) c.488G>A (p.Gly163Glu) n.2098G>A n.2071G>A | |
8 | g.141168202G>C | CA372343886 | DENND3 | c.1952G>C (p.Gly651Ala) c.1712G>C (p.Gly571Ala) c.1556G>C (p.Gly519Ala) c.1725G>C n.1493G>C c.1751G>C (p.Gly584Ala) c.1595G>C (p.Gly532Ala) c.1718G>C (p.Gly573Ala) c.1208G>C (p.Gly403Ala) c.1385G>C (p.Gly462Ala) c.1379G>C (p.Gly460Ala) c.920G>C (p.Gly307Ala) c.449G>C (p.Gly150Ala) n.1881G>C n.2048G>C c.1796G>C (p.Gly599Ala) c.488G>C (p.Gly163Ala) n.2098G>C n.2071G>C | |
8 | g.141168202G>T | CA372343887 | DENND3 | c.1952G>T (p.Gly651Val) c.1712G>T (p.Gly571Val) c.1556G>T (p.Gly519Val) c.1725G>T n.1493G>T c.1751G>T (p.Gly584Val) c.1595G>T (p.Gly532Val) c.1718G>T (p.Gly573Val) c.1208G>T (p.Gly403Val) c.1385G>T (p.Gly462Val) c.1379G>T (p.Gly460Val) c.920G>T (p.Gly307Val) c.449G>T (p.Gly150Val) n.1881G>T n.2048G>T c.1796G>T (p.Gly599Val) c.488G>T (p.Gly163Val) n.2098G>T n.2071G>T | |
8 | g.141168203A>C | CA463493503 | DENND3 | c.1953A>C (p.Gly651=) c.1713A>C (p.Gly571=) c.1557A>C (p.Gly519=) c.1726A>C n.1494A>C c.1752A>C (p.Gly584=) c.1596A>C (p.Gly532=) c.1719A>C (p.Gly573=) c.1209A>C (p.Gly403=) c.1386A>C (p.Gly462=) c.1380A>C (p.Gly460=) c.921A>C (p.Gly307=) c.450A>C (p.Gly150=) n.1882A>C n.2049A>C c.1797A>C (p.Gly599=) c.489A>C (p.Gly163=) n.2099A>C n.2072A>C | |
8 | g.141168203A>G | CA463493507 | DENND3 | c.1953A>G (p.Gly651=) c.1713A>G (p.Gly571=) c.1557A>G (p.Gly519=) c.1726A>G n.1494A>G c.1752A>G (p.Gly584=) c.1596A>G (p.Gly532=) c.1719A>G (p.Gly573=) c.1209A>G (p.Gly403=) c.1386A>G (p.Gly462=) c.1380A>G (p.Gly460=) c.921A>G (p.Gly307=) c.450A>G (p.Gly150=) n.1882A>G n.2049A>G c.1797A>G (p.Gly599=) c.489A>G (p.Gly163=) n.2099A>G n.2072A>G | |
8 | g.141168203A>T | CA463493505 | DENND3 | c.1953A>T (p.Gly651=) c.1713A>T (p.Gly571=) c.1557A>T (p.Gly519=) c.1726A>T n.1494A>T c.1752A>T (p.Gly584=) c.1596A>T (p.Gly532=) c.1719A>T (p.Gly573=) c.1209A>T (p.Gly403=) c.1386A>T (p.Gly462=) c.1380A>T (p.Gly460=) c.921A>T (p.Gly307=) c.450A>T (p.Gly150=) n.1882A>T n.2049A>T c.1797A>T (p.Gly599=) c.489A>T (p.Gly163=) n.2099A>T n.2072A>T | |
8 | g.141168204C>A | CA372343888 | DENND3 | c.1954C>A (p.Gln652Lys) c.1714C>A (p.Gln572Lys) c.1558C>A (p.Gln520Lys) c.1727C>A n.1495C>A c.1753C>A (p.Gln585Lys) c.1597C>A (p.Gln533Lys) c.1720C>A (p.Gln574Lys) c.1210C>A (p.Gln404Lys) c.1387C>A (p.Gln463Lys) c.1381C>A (p.Gln461Lys) c.922C>A (p.Gln308Lys) c.451C>A (p.Gln151Lys) n.1883C>A n.2050C>A c.1798C>A (p.Gln600Lys) c.490C>A (p.Gln164Lys) n.2100C>A n.2073C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168204C>G | CA372343889 | DENND3 | c.1954C>G (p.Gln652Glu) c.1714C>G (p.Gln572Glu) c.1558C>G (p.Gln520Glu) c.1727C>G n.1495C>G c.1753C>G (p.Gln585Glu) c.1597C>G (p.Gln533Glu) c.1720C>G (p.Gln574Glu) c.1210C>G (p.Gln404Glu) c.1387C>G (p.Gln463Glu) c.1381C>G (p.Gln461Glu) c.922C>G (p.Gln308Glu) c.451C>G (p.Gln151Glu) n.1883C>G n.2050C>G c.1798C>G (p.Gln600Glu) c.490C>G (p.Gln164Glu) n.2100C>G n.2073C>G | |
8 | g.141168204C>T | CA372343890 | DENND3 | c.1954C>T (p.Gln652Ter) c.1714C>T (p.Gln572Ter) c.1558C>T (p.Gln520Ter) c.1727C>T n.1495C>T c.1753C>T (p.Gln585Ter) c.1597C>T (p.Gln533Ter) c.1720C>T (p.Gln574Ter) c.1210C>T (p.Gln404Ter) c.1387C>T (p.Gln463Ter) c.1381C>T (p.Gln461Ter) c.922C>T (p.Gln308Ter) c.451C>T (p.Gln151Ter) n.1883C>T n.2050C>T c.1798C>T (p.Gln600Ter) c.490C>T (p.Gln164Ter) n.2100C>T n.2073C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168205A>C | CA372343891 | DENND3 | c.1955A>C (p.Gln652Pro) c.1715A>C (p.Gln572Pro) c.1559A>C (p.Gln520Pro) c.1728A>C n.1496A>C c.1754A>C (p.Gln585Pro) c.1598A>C (p.Gln533Pro) c.1721A>C (p.Gln574Pro) c.1211A>C (p.Gln404Pro) c.1388A>C (p.Gln463Pro) c.1382A>C (p.Gln461Pro) c.923A>C (p.Gln308Pro) c.452A>C (p.Gln151Pro) n.1884A>C n.2051A>C c.1799A>C (p.Gln600Pro) c.491A>C (p.Gln164Pro) n.2101A>C n.2074A>C | |
8 | g.141168205A>G | CA372343892 | DENND3 | c.1955A>G (p.Gln652Arg) c.1715A>G (p.Gln572Arg) c.1559A>G (p.Gln520Arg) c.1728A>G n.1496A>G c.1754A>G (p.Gln585Arg) c.1598A>G (p.Gln533Arg) c.1721A>G (p.Gln574Arg) c.1211A>G (p.Gln404Arg) c.1388A>G (p.Gln463Arg) c.1382A>G (p.Gln461Arg) c.923A>G (p.Gln308Arg) c.452A>G (p.Gln151Arg) n.1884A>G n.2051A>G c.1799A>G (p.Gln600Arg) c.491A>G (p.Gln164Arg) n.2101A>G n.2074A>G | |
8 | g.141168205A>T | CA372343893 | DENND3 | c.1955A>T (p.Gln652Leu) c.1715A>T (p.Gln572Leu) c.1559A>T (p.Gln520Leu) c.1728A>T n.1496A>T c.1754A>T (p.Gln585Leu) c.1598A>T (p.Gln533Leu) c.1721A>T (p.Gln574Leu) c.1211A>T (p.Gln404Leu) c.1388A>T (p.Gln463Leu) c.1382A>T (p.Gln461Leu) c.923A>T (p.Gln308Leu) c.452A>T (p.Gln151Leu) n.1884A>T n.2051A>T c.1799A>T (p.Gln600Leu) c.491A>T (p.Gln164Leu) n.2101A>T n.2074A>T | |
8 | g.141168206G>A | CA463493518 | DENND3 | c.1956G>A (p.Gln652=) c.1716G>A (p.Gln572=) c.1560G>A (p.Gln520=) c.1729G>A n.1497G>A c.1755G>A (p.Gln585=) c.1599G>A (p.Gln533=) c.1722G>A (p.Gln574=) c.1212G>A (p.Gln404=) c.1389G>A (p.Gln463=) c.1383G>A (p.Gln461=) c.924G>A (p.Gln308=) c.453G>A (p.Gln151=) n.1885G>A n.2052G>A c.1800G>A (p.Gln600=) c.492G>A (p.Gln164=) n.2102G>A n.2075G>A | |
8 | g.141168206G>C | CA372343894 | DENND3 | c.1956G>C (p.Gln652His) c.1716G>C (p.Gln572His) c.1560G>C (p.Gln520His) c.1729G>C n.1497G>C c.1755G>C (p.Gln585His) c.1599G>C (p.Gln533His) c.1722G>C (p.Gln574His) c.1212G>C (p.Gln404His) c.1389G>C (p.Gln463His) c.1383G>C (p.Gln461His) c.924G>C (p.Gln308His) c.453G>C (p.Gln151His) n.1885G>C n.2052G>C c.1800G>C (p.Gln600His) c.492G>C (p.Gln164His) n.2102G>C n.2075G>C | |
8 | g.141168206G>T | CA372343895 | DENND3 | c.1956G>T (p.Gln652His) c.1716G>T (p.Gln572His) c.1560G>T (p.Gln520His) c.1729G>T n.1497G>T c.1755G>T (p.Gln585His) c.1599G>T (p.Gln533His) c.1722G>T (p.Gln574His) c.1212G>T (p.Gln404His) c.1389G>T (p.Gln463His) c.1383G>T (p.Gln461His) c.924G>T (p.Gln308His) c.453G>T (p.Gln151His) n.1885G>T n.2052G>T c.1800G>T (p.Gln600His) c.492G>T (p.Gln164His) n.2102G>T n.2075G>T | |
8 | g.141168207C>A | CA372343896 | DENND3 | c.1957C>A (p.Leu653Met) c.1717C>A (p.Leu573Met) c.1561C>A (p.Leu521Met) c.1730C>A n.1498C>A c.1756C>A (p.Leu586Met) c.1600C>A (p.Leu534Met) c.1723C>A (p.Leu575Met) c.1213C>A (p.Leu405Met) c.1390C>A (p.Leu464Met) c.1384C>A (p.Leu462Met) c.925C>A (p.Leu309Met) c.454C>A (p.Leu152Met) n.1886C>A n.2053C>A c.1801C>A (p.Leu601Met) c.493C>A (p.Leu165Met) n.2103C>A n.2076C>A | |
8 | g.141168207C>G | CA372343897 | DENND3 | c.1957C>G (p.Leu653Val) c.1717C>G (p.Leu573Val) c.1561C>G (p.Leu521Val) c.1730C>G n.1498C>G c.1756C>G (p.Leu586Val) c.1600C>G (p.Leu534Val) c.1723C>G (p.Leu575Val) c.1213C>G (p.Leu405Val) c.1390C>G (p.Leu464Val) c.1384C>G (p.Leu462Val) c.925C>G (p.Leu309Val) c.454C>G (p.Leu152Val) n.1886C>G n.2053C>G c.1801C>G (p.Leu601Val) c.493C>G (p.Leu165Val) n.2103C>G n.2076C>G | |
8 | g.141168207C>T | CA463493524 | DENND3 | c.1957C>T (p.Leu653=) c.1717C>T (p.Leu573=) c.1561C>T (p.Leu521=) c.1730C>T n.1498C>T c.1756C>T (p.Leu586=) c.1600C>T (p.Leu534=) c.1723C>T (p.Leu575=) c.1213C>T (p.Leu405=) c.1390C>T (p.Leu464=) c.1384C>T (p.Leu462=) c.925C>T (p.Leu309=) c.454C>T (p.Leu152=) n.1886C>T n.2053C>T c.1801C>T (p.Leu601=) c.493C>T (p.Leu165=) n.2103C>T n.2076C>T | gnomAD v4 |
8 | g.141168208del | CA2688780175 | DENND3 | c.1958del (p.Leu653ArgfsTer2) c.1718del (p.Leu573ArgfsTer2) c.1562del (p.Leu521ArgfsTer2) c.1731del n.1499del c.1757del (p.Leu586ArgfsTer2) c.1601del (p.Leu534ArgfsTer2) c.1724del (p.Leu575ArgfsTer2) c.1214del (p.Leu405ArgfsTer2) c.1391del (p.Leu464ArgfsTer2) c.1385del (p.Leu462ArgfsTer2) c.926del (p.Leu309ArgfsTer2) c.455del (p.Leu152ArgfsTer2) n.1887del n.2054del c.1802del (p.Leu601ArgfsTer2) c.494del (p.Leu165ArgfsTer2) n.2104del n.2077del | gnomAD v4 |
8 | g.141168208T>A | CA372343898 | DENND3 | c.1958T>A (p.Leu653Gln) c.1718T>A (p.Leu573Gln) c.1562T>A (p.Leu521Gln) c.1731T>A n.1499T>A c.1757T>A (p.Leu586Gln) c.1601T>A (p.Leu534Gln) c.1724T>A (p.Leu575Gln) c.1214T>A (p.Leu405Gln) c.1391T>A (p.Leu464Gln) c.1385T>A (p.Leu462Gln) c.926T>A (p.Leu309Gln) c.455T>A (p.Leu152Gln) n.1887T>A n.2054T>A c.1802T>A (p.Leu601Gln) c.494T>A (p.Leu165Gln) n.2104T>A n.2077T>A | |
8 | g.141168208T>C | CA372343900 | DENND3 | c.1958T>C (p.Leu653Pro) c.1718T>C (p.Leu573Pro) c.1562T>C (p.Leu521Pro) c.1731T>C n.1499T>C c.1757T>C (p.Leu586Pro) c.1601T>C (p.Leu534Pro) c.1724T>C (p.Leu575Pro) c.1214T>C (p.Leu405Pro) c.1391T>C (p.Leu464Pro) c.1385T>C (p.Leu462Pro) c.926T>C (p.Leu309Pro) c.455T>C (p.Leu152Pro) n.1887T>C n.2054T>C c.1802T>C (p.Leu601Pro) c.494T>C (p.Leu165Pro) n.2104T>C n.2077T>C | |
8 | g.141168208T>G | CA372343899 | DENND3 | c.1958T>G (p.Leu653Arg) c.1718T>G (p.Leu573Arg) c.1562T>G (p.Leu521Arg) c.1731T>G n.1499T>G c.1757T>G (p.Leu586Arg) c.1601T>G (p.Leu534Arg) c.1724T>G (p.Leu575Arg) c.1214T>G (p.Leu405Arg) c.1391T>G (p.Leu464Arg) c.1385T>G (p.Leu462Arg) c.926T>G (p.Leu309Arg) c.455T>G (p.Leu152Arg) n.1887T>G n.2054T>G c.1802T>G (p.Leu601Arg) c.494T>G (p.Leu165Arg) n.2104T>G n.2077T>G | dbSNP gnomAD v4 |
8 | g.141168209G>A | CA463493530 | DENND3 | c.1959G>A (p.Leu653=) c.1719G>A (p.Leu573=) c.1563G>A (p.Leu521=) c.1732G>A n.1500G>A c.1758G>A (p.Leu586=) c.1602G>A (p.Leu534=) c.1725G>A (p.Leu575=) c.1215G>A (p.Leu405=) c.1392G>A (p.Leu464=) c.1386G>A (p.Leu462=) c.927G>A (p.Leu309=) c.456G>A (p.Leu152=) n.1888G>A n.2055G>A c.1803G>A (p.Leu601=) c.495G>A (p.Leu165=) n.2105G>A n.2078G>A | |
8 | g.141168209G>C | CA463493534 | DENND3 | c.1959G>C (p.Leu653=) c.1719G>C (p.Leu573=) c.1563G>C (p.Leu521=) c.1732G>C n.1500G>C c.1758G>C (p.Leu586=) c.1602G>C (p.Leu534=) c.1725G>C (p.Leu575=) c.1215G>C (p.Leu405=) c.1392G>C (p.Leu464=) c.1386G>C (p.Leu462=) c.927G>C (p.Leu309=) c.456G>C (p.Leu152=) n.1888G>C n.2055G>C c.1803G>C (p.Leu601=) c.495G>C (p.Leu165=) n.2105G>C n.2078G>C | |
8 | g.141168209G>T | CA463493532 | DENND3 | c.1959G>T (p.Leu653=) c.1719G>T (p.Leu573=) c.1563G>T (p.Leu521=) c.1732G>T n.1500G>T c.1758G>T (p.Leu586=) c.1602G>T (p.Leu534=) c.1725G>T (p.Leu575=) c.1215G>T (p.Leu405=) c.1392G>T (p.Leu464=) c.1386G>T (p.Leu462=) c.927G>T (p.Leu309=) c.456G>T (p.Leu152=) n.1888G>T n.2055G>T c.1803G>T (p.Leu601=) c.495G>T (p.Leu165=) n.2105G>T n.2078G>T | |
8 | g.141168210C>A | CA372343901 | DENND3 | c.1960C>A (p.Leu654Met) c.1720C>A (p.Leu574Met) c.1564C>A (p.Leu522Met) c.1733C>A n.1501C>A c.1759C>A (p.Leu587Met) c.1603C>A (p.Leu535Met) c.1726C>A (p.Leu576Met) c.1216C>A (p.Leu406Met) c.1393C>A (p.Leu465Met) c.1387C>A (p.Leu463Met) c.928C>A (p.Leu310Met) c.457C>A (p.Leu153Met) n.1889C>A n.2056C>A c.1804C>A (p.Leu602Met) c.496C>A (p.Leu166Met) n.2106C>A n.2079C>A | |
8 | g.141168210C>G | CA372343902 | DENND3 | c.1960C>G (p.Leu654Val) c.1720C>G (p.Leu574Val) c.1564C>G (p.Leu522Val) c.1733C>G n.1501C>G c.1759C>G (p.Leu587Val) c.1603C>G (p.Leu535Val) c.1726C>G (p.Leu576Val) c.1216C>G (p.Leu406Val) c.1393C>G (p.Leu465Val) c.1387C>G (p.Leu463Val) c.928C>G (p.Leu310Val) c.457C>G (p.Leu153Val) n.1889C>G n.2056C>G c.1804C>G (p.Leu602Val) c.496C>G (p.Leu166Val) n.2106C>G n.2079C>G | |
8 | g.141168210C>T | CA463493538 | DENND3 | c.1960C>T (p.Leu654=) c.1720C>T (p.Leu574=) c.1564C>T (p.Leu522=) c.1733C>T n.1501C>T c.1759C>T (p.Leu587=) c.1603C>T (p.Leu535=) c.1726C>T (p.Leu576=) c.1216C>T (p.Leu406=) c.1393C>T (p.Leu465=) c.1387C>T (p.Leu463=) c.928C>T (p.Leu310=) c.457C>T (p.Leu153=) n.1889C>T n.2056C>T c.1804C>T (p.Leu602=) c.496C>T (p.Leu166=) n.2106C>T n.2079C>T | |
8 | g.141168211T>A | CA372343903 | DENND3 | c.1961T>A (p.Leu654Gln) c.1721T>A (p.Leu574Gln) c.1565T>A (p.Leu522Gln) c.1734T>A n.1502T>A c.1760T>A (p.Leu587Gln) c.1604T>A (p.Leu535Gln) c.1727T>A (p.Leu576Gln) c.1217T>A (p.Leu406Gln) c.1394T>A (p.Leu465Gln) c.1388T>A (p.Leu463Gln) c.929T>A (p.Leu310Gln) c.458T>A (p.Leu153Gln) n.1890T>A n.2057T>A c.1805T>A (p.Leu602Gln) c.497T>A (p.Leu166Gln) n.2107T>A n.2080T>A | |
8 | g.141168211T>C | CA372343904 | DENND3 | c.1961T>C (p.Leu654Pro) c.1721T>C (p.Leu574Pro) c.1565T>C (p.Leu522Pro) c.1734T>C n.1502T>C c.1760T>C (p.Leu587Pro) c.1604T>C (p.Leu535Pro) c.1727T>C (p.Leu576Pro) c.1217T>C (p.Leu406Pro) c.1394T>C (p.Leu465Pro) c.1388T>C (p.Leu463Pro) c.929T>C (p.Leu310Pro) c.458T>C (p.Leu153Pro) n.1890T>C n.2057T>C c.1805T>C (p.Leu602Pro) c.497T>C (p.Leu166Pro) n.2107T>C n.2080T>C | gnomAD v4 |
8 | g.141168211T>G | CA372343905 | DENND3 | c.1961T>G (p.Leu654Arg) c.1721T>G (p.Leu574Arg) c.1565T>G (p.Leu522Arg) c.1734T>G n.1502T>G c.1760T>G (p.Leu587Arg) c.1604T>G (p.Leu535Arg) c.1727T>G (p.Leu576Arg) c.1217T>G (p.Leu406Arg) c.1394T>G (p.Leu465Arg) c.1388T>G (p.Leu463Arg) c.929T>G (p.Leu310Arg) c.458T>G (p.Leu153Arg) n.1890T>G n.2057T>G c.1805T>G (p.Leu602Arg) c.497T>G (p.Leu166Arg) n.2107T>G n.2080T>G | |
8 | g.141168212del | CA2688780181 | DENND3 | c.1962del (p.Asn655ThrfsTer22) c.1722del (p.Asn575ThrfsTer22) c.1566del (p.Asn523ThrfsTer22) c.1735del n.1503del c.1761del (p.Asn588ThrfsTer22) c.1605del (p.Asn536ThrfsTer22) c.1728del (p.Asn577ThrfsTer22) c.1218del (p.Asn407ThrfsTer22) c.1395del (p.Asn466ThrfsTer22) c.1389del (p.Asn464ThrfsTer22) c.930del (p.Asn311ThrfsTer22) c.459del (p.Asn154ThrfsTer22) n.1891del n.2058del c.1806del (p.Asn603ThrfsTer22) c.498del (p.Asn167ThrfsTer22) n.2108del n.2081del | gnomAD v4 |
8 | g.141168212G>A | CA463493544 | DENND3 | c.1962G>A (p.Leu654=) c.1722G>A (p.Leu574=) c.1566G>A (p.Leu522=) c.1735G>A n.1503G>A c.1761G>A (p.Leu587=) c.1605G>A (p.Leu535=) c.1728G>A (p.Leu576=) c.1218G>A (p.Leu406=) c.1395G>A (p.Leu465=) c.1389G>A (p.Leu463=) c.930G>A (p.Leu310=) c.459G>A (p.Leu153=) n.1891G>A n.2058G>A c.1806G>A (p.Leu602=) c.498G>A (p.Leu166=) n.2108G>A n.2081G>A | gnomAD v4 |
8 | g.141168212G>C | CA463493546 | DENND3 | c.1962G>C (p.Leu654=) c.1722G>C (p.Leu574=) c.1566G>C (p.Leu522=) c.1735G>C n.1503G>C c.1761G>C (p.Leu587=) c.1605G>C (p.Leu535=) c.1728G>C (p.Leu576=) c.1218G>C (p.Leu406=) c.1395G>C (p.Leu465=) c.1389G>C (p.Leu463=) c.930G>C (p.Leu310=) c.459G>C (p.Leu153=) n.1891G>C n.2058G>C c.1806G>C (p.Leu602=) c.498G>C (p.Leu166=) n.2108G>C n.2081G>C | |
8 | g.141168212G>T | CA4896783 | DENND3 | c.1962G>T (p.Leu654=) c.1722G>T (p.Leu574=) c.1566G>T (p.Leu522=) c.1735G>T n.1503G>T c.1761G>T (p.Leu587=) c.1605G>T (p.Leu535=) c.1728G>T (p.Leu576=) c.1218G>T (p.Leu406=) c.1395G>T (p.Leu465=) c.1389G>T (p.Leu463=) c.930G>T (p.Leu310=) c.459G>T (p.Leu153=) n.1891G>T n.2058G>T c.1806G>T (p.Leu602=) c.498G>T (p.Leu166=) n.2108G>T n.2081G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168213A>C | CA372343906 | DENND3 | c.1963A>C (p.Asn655His) c.1723A>C (p.Asn575His) c.1567A>C (p.Asn523His) c.1736A>C n.1504A>C c.1762A>C (p.Asn588His) c.1606A>C (p.Asn536His) c.1729A>C (p.Asn577His) c.1219A>C (p.Asn407His) c.1396A>C (p.Asn466His) c.1390A>C (p.Asn464His) c.931A>C (p.Asn311His) c.460A>C (p.Asn154His) n.1892A>C n.2059A>C c.1807A>C (p.Asn603His) c.499A>C (p.Asn167His) n.2109A>C n.2082A>C | |
8 | g.141168213A>G | CA4896784 | DENND3 | c.1963A>G (p.Asn655Asp) c.1723A>G (p.Asn575Asp) c.1567A>G (p.Asn523Asp) c.1736A>G n.1504A>G c.1762A>G (p.Asn588Asp) c.1606A>G (p.Asn536Asp) c.1729A>G (p.Asn577Asp) c.1219A>G (p.Asn407Asp) c.1396A>G (p.Asn466Asp) c.1390A>G (p.Asn464Asp) c.931A>G (p.Asn311Asp) c.460A>G (p.Asn154Asp) n.1892A>G n.2059A>G c.1807A>G (p.Asn603Asp) c.499A>G (p.Asn167Asp) n.2109A>G n.2082A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168213A>T | CA372343907 | DENND3 | c.1963A>T (p.Asn655Tyr) c.1723A>T (p.Asn575Tyr) c.1567A>T (p.Asn523Tyr) c.1736A>T n.1504A>T c.1762A>T (p.Asn588Tyr) c.1606A>T (p.Asn536Tyr) c.1729A>T (p.Asn577Tyr) c.1219A>T (p.Asn407Tyr) c.1396A>T (p.Asn466Tyr) c.1390A>T (p.Asn464Tyr) c.931A>T (p.Asn311Tyr) c.460A>T (p.Asn154Tyr) n.1892A>T n.2059A>T c.1807A>T (p.Asn603Tyr) c.499A>T (p.Asn167Tyr) n.2109A>T n.2082A>T | |
8 | g.141168214A>C | CA372343908 | DENND3 | c.1964A>C (p.Asn655Thr) c.1724A>C (p.Asn575Thr) c.1568A>C (p.Asn523Thr) c.1737A>C n.1505A>C c.1763A>C (p.Asn588Thr) c.1607A>C (p.Asn536Thr) c.1730A>C (p.Asn577Thr) c.1220A>C (p.Asn407Thr) c.1397A>C (p.Asn466Thr) c.1391A>C (p.Asn464Thr) c.932A>C (p.Asn311Thr) c.461A>C (p.Asn154Thr) n.1893A>C n.2060A>C c.1808A>C (p.Asn603Thr) c.500A>C (p.Asn167Thr) n.2110A>C n.2083A>C | |
8 | g.141168214A>G | CA372343909 | DENND3 | c.1964A>G (p.Asn655Ser) c.1724A>G (p.Asn575Ser) c.1568A>G (p.Asn523Ser) c.1737A>G n.1505A>G c.1763A>G (p.Asn588Ser) c.1607A>G (p.Asn536Ser) c.1730A>G (p.Asn577Ser) c.1220A>G (p.Asn407Ser) c.1397A>G (p.Asn466Ser) c.1391A>G (p.Asn464Ser) c.932A>G (p.Asn311Ser) c.461A>G (p.Asn154Ser) n.1893A>G n.2060A>G c.1808A>G (p.Asn603Ser) c.500A>G (p.Asn167Ser) n.2110A>G n.2083A>G | |
8 | g.141168214A>T | CA372343910 | DENND3 | c.1964A>T (p.Asn655Ile) c.1724A>T (p.Asn575Ile) c.1568A>T (p.Asn523Ile) c.1737A>T n.1505A>T c.1763A>T (p.Asn588Ile) c.1607A>T (p.Asn536Ile) c.1730A>T (p.Asn577Ile) c.1220A>T (p.Asn407Ile) c.1397A>T (p.Asn466Ile) c.1391A>T (p.Asn464Ile) c.932A>T (p.Asn311Ile) c.461A>T (p.Asn154Ile) n.1893A>T n.2060A>T c.1808A>T (p.Asn603Ile) c.500A>T (p.Asn167Ile) n.2110A>T n.2083A>T | |
8 | g.141168215C>A | CA372343911 | DENND3 | c.1965C>A (p.Asn655Lys) c.1725C>A (p.Asn575Lys) c.1569C>A (p.Asn523Lys) c.1738C>A n.1506C>A c.1764C>A (p.Asn588Lys) c.1608C>A (p.Asn536Lys) c.1731C>A (p.Asn577Lys) c.1221C>A (p.Asn407Lys) c.1398C>A (p.Asn466Lys) c.1392C>A (p.Asn464Lys) c.933C>A (p.Asn311Lys) c.462C>A (p.Asn154Lys) n.1894C>A n.2061C>A c.1809C>A (p.Asn603Lys) c.501C>A (p.Asn167Lys) n.2111C>A n.2084C>A | dbSNP gnomAD v2 |
8 | g.141168215C>G | CA372343912 | DENND3 | c.1965C>G (p.Asn655Lys) c.1725C>G (p.Asn575Lys) c.1569C>G (p.Asn523Lys) c.1738C>G n.1506C>G c.1764C>G (p.Asn588Lys) c.1608C>G (p.Asn536Lys) c.1731C>G (p.Asn577Lys) c.1221C>G (p.Asn407Lys) c.1398C>G (p.Asn466Lys) c.1392C>G (p.Asn464Lys) c.933C>G (p.Asn311Lys) c.462C>G (p.Asn154Lys) n.1894C>G n.2061C>G c.1809C>G (p.Asn603Lys) c.501C>G (p.Asn167Lys) n.2111C>G n.2084C>G | |
8 | g.141168215C>T | CA4896785 | DENND3 | c.1965C>T (p.Asn655=) c.1725C>T (p.Asn575=) c.1569C>T (p.Asn523=) c.1738C>T n.1506C>T c.1764C>T (p.Asn588=) c.1608C>T (p.Asn536=) c.1731C>T (p.Asn577=) c.1221C>T (p.Asn407=) c.1398C>T (p.Asn466=) c.1392C>T (p.Asn464=) c.933C>T (p.Asn311=) c.462C>T (p.Asn154=) n.1894C>T n.2061C>T c.1809C>T (p.Asn603=) c.501C>T (p.Asn167=) n.2111C>T n.2084C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168216G>A | CA372343913 | DENND3 | c.1966G>A (p.Ala656Thr) c.1726G>A (p.Ala576Thr) c.1570G>A (p.Ala524Thr) c.1739G>A n.1507G>A c.1765G>A (p.Ala589Thr) c.1609G>A (p.Ala537Thr) c.1732G>A (p.Ala578Thr) c.1222G>A (p.Ala408Thr) c.1399G>A (p.Ala467Thr) c.1393G>A (p.Ala465Thr) c.934G>A (p.Ala312Thr) c.463G>A (p.Ala155Thr) n.1895G>A n.2062G>A c.1810G>A (p.Ala604Thr) c.502G>A (p.Ala168Thr) n.2112G>A n.2085G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168216G>C | CA372343915 | DENND3 | c.1966G>C (p.Ala656Pro) c.1726G>C (p.Ala576Pro) c.1570G>C (p.Ala524Pro) c.1739G>C n.1507G>C c.1765G>C (p.Ala589Pro) c.1609G>C (p.Ala537Pro) c.1732G>C (p.Ala578Pro) c.1222G>C (p.Ala408Pro) c.1399G>C (p.Ala467Pro) c.1393G>C (p.Ala465Pro) c.934G>C (p.Ala312Pro) c.463G>C (p.Ala155Pro) n.1895G>C n.2062G>C c.1810G>C (p.Ala604Pro) c.502G>C (p.Ala168Pro) n.2112G>C n.2085G>C | |
8 | g.141168216G>T | CA372343914 | DENND3 | c.1966G>T (p.Ala656Ser) c.1726G>T (p.Ala576Ser) c.1570G>T (p.Ala524Ser) c.1739G>T n.1507G>T c.1765G>T (p.Ala589Ser) c.1609G>T (p.Ala537Ser) c.1732G>T (p.Ala578Ser) c.1222G>T (p.Ala408Ser) c.1399G>T (p.Ala467Ser) c.1393G>T (p.Ala465Ser) c.934G>T (p.Ala312Ser) c.463G>T (p.Ala155Ser) n.1895G>T n.2062G>T c.1810G>T (p.Ala604Ser) c.502G>T (p.Ala168Ser) n.2112G>T n.2085G>T | |
8 | g.141168217C>A | CA372343916 | DENND3 | c.1967C>A (p.Ala656Asp) c.1727C>A (p.Ala576Asp) c.1571C>A (p.Ala524Asp) c.1740C>A n.1508C>A c.1766C>A (p.Ala589Asp) c.1610C>A (p.Ala537Asp) c.1733C>A (p.Ala578Asp) c.1223C>A (p.Ala408Asp) c.1400C>A (p.Ala467Asp) c.1394C>A (p.Ala465Asp) c.935C>A (p.Ala312Asp) c.464C>A (p.Ala155Asp) n.1896C>A n.2063C>A c.1811C>A (p.Ala604Asp) c.503C>A (p.Ala168Asp) n.2113C>A n.2086C>A | |
8 | g.141168217C>G | CA372343917 | DENND3 | c.1967C>G (p.Ala656Gly) c.1727C>G (p.Ala576Gly) c.1571C>G (p.Ala524Gly) c.1740C>G n.1508C>G c.1766C>G (p.Ala589Gly) c.1610C>G (p.Ala537Gly) c.1733C>G (p.Ala578Gly) c.1223C>G (p.Ala408Gly) c.1400C>G (p.Ala467Gly) c.1394C>G (p.Ala465Gly) c.935C>G (p.Ala312Gly) c.464C>G (p.Ala155Gly) n.1896C>G n.2063C>G c.1811C>G (p.Ala604Gly) c.503C>G (p.Ala168Gly) n.2113C>G n.2086C>G | |
8 | g.141168217C>T | CA372343918 | DENND3 | c.1967C>T (p.Ala656Val) c.1727C>T (p.Ala576Val) c.1571C>T (p.Ala524Val) c.1740C>T n.1508C>T c.1766C>T (p.Ala589Val) c.1610C>T (p.Ala537Val) c.1733C>T (p.Ala578Val) c.1223C>T (p.Ala408Val) c.1400C>T (p.Ala467Val) c.1394C>T (p.Ala465Val) c.935C>T (p.Ala312Val) c.464C>T (p.Ala155Val) n.1896C>T n.2063C>T c.1811C>T (p.Ala604Val) c.503C>T (p.Ala168Val) n.2113C>T n.2086C>T | gnomAD v4 |
8 | g.141168218C>A | CA463493565 | DENND3 | c.1968C>A (p.Ala656=) c.1728C>A (p.Ala576=) c.1572C>A (p.Ala524=) c.1741C>A n.1509C>A c.1767C>A (p.Ala589=) c.1611C>A (p.Ala537=) c.1734C>A (p.Ala578=) c.1224C>A (p.Ala408=) c.1401C>A (p.Ala467=) c.1395C>A (p.Ala465=) c.936C>A (p.Ala312=) c.465C>A (p.Ala155=) n.1897C>A n.2064C>A c.1812C>A (p.Ala604=) c.504C>A (p.Ala168=) n.2114C>A n.2087C>A | dbSNP |
8 | g.141168218C>G | CA463493567 | DENND3 | c.1968C>G (p.Ala656=) c.1728C>G (p.Ala576=) c.1572C>G (p.Ala524=) c.1741C>G n.1509C>G c.1767C>G (p.Ala589=) c.1611C>G (p.Ala537=) c.1734C>G (p.Ala578=) c.1224C>G (p.Ala408=) c.1401C>G (p.Ala467=) c.1395C>G (p.Ala465=) c.936C>G (p.Ala312=) c.465C>G (p.Ala155=) n.1897C>G n.2064C>G c.1812C>G (p.Ala604=) c.504C>G (p.Ala168=) n.2114C>G n.2087C>G | |
8 | g.141168218C>T | CA463493569 | DENND3 | c.1968C>T (p.Ala656=) c.1728C>T (p.Ala576=) c.1572C>T (p.Ala524=) c.1741C>T n.1509C>T c.1767C>T (p.Ala589=) c.1611C>T (p.Ala537=) c.1734C>T (p.Ala578=) c.1224C>T (p.Ala408=) c.1401C>T (p.Ala467=) c.1395C>T (p.Ala465=) c.936C>T (p.Ala312=) c.465C>T (p.Ala155=) n.1897C>T n.2064C>T c.1812C>T (p.Ala604=) c.504C>T (p.Ala168=) n.2114C>T n.2087C>T | |
8 | g.141168219C>A | CA372343919 | DENND3 | c.1969C>A (p.Leu657Ile) c.1729C>A (p.Leu577Ile) c.1573C>A (p.Leu525Ile) c.1742C>A n.1510C>A c.1768C>A (p.Leu590Ile) c.1612C>A (p.Leu538Ile) c.1735C>A (p.Leu579Ile) c.1225C>A (p.Leu409Ile) c.1402C>A (p.Leu468Ile) c.1396C>A (p.Leu466Ile) c.937C>A (p.Leu313Ile) c.466C>A (p.Leu156Ile) n.1898C>A n.2065C>A c.1813C>A (p.Leu605Ile) c.505C>A (p.Leu169Ile) n.2115C>A n.2088C>A | |
8 | g.141168219C>G | CA372343920 | DENND3 | c.1969C>G (p.Leu657Val) c.1729C>G (p.Leu577Val) c.1573C>G (p.Leu525Val) c.1742C>G n.1510C>G c.1768C>G (p.Leu590Val) c.1612C>G (p.Leu538Val) c.1735C>G (p.Leu579Val) c.1225C>G (p.Leu409Val) c.1402C>G (p.Leu468Val) c.1396C>G (p.Leu466Val) c.937C>G (p.Leu313Val) c.466C>G (p.Leu156Val) n.1898C>G n.2065C>G c.1813C>G (p.Leu605Val) c.505C>G (p.Leu169Val) n.2115C>G n.2088C>G | |
8 | g.141168219C>T | CA372343921 | DENND3 | c.1969C>T (p.Leu657Phe) c.1729C>T (p.Leu577Phe) c.1573C>T (p.Leu525Phe) c.1742C>T n.1510C>T c.1768C>T (p.Leu590Phe) c.1612C>T (p.Leu538Phe) c.1735C>T (p.Leu579Phe) c.1225C>T (p.Leu409Phe) c.1402C>T (p.Leu468Phe) c.1396C>T (p.Leu466Phe) c.937C>T (p.Leu313Phe) c.466C>T (p.Leu156Phe) n.1898C>T n.2065C>T c.1813C>T (p.Leu605Phe) c.505C>T (p.Leu169Phe) n.2115C>T n.2088C>T | |
8 | g.141168220T>A | CA372343922 | DENND3 | c.1970T>A (p.Leu657His) c.1730T>A (p.Leu577His) c.1574T>A (p.Leu525His) c.1743T>A n.1511T>A c.1769T>A (p.Leu590His) c.1613T>A (p.Leu538His) c.1736T>A (p.Leu579His) c.1226T>A (p.Leu409His) c.1403T>A (p.Leu468His) c.1397T>A (p.Leu466His) c.938T>A (p.Leu313His) c.467T>A (p.Leu156His) n.1899T>A n.2066T>A c.1814T>A (p.Leu605His) c.506T>A (p.Leu169His) n.2116T>A n.2089T>A | |
8 | g.141168220T>C | CA372343923 | DENND3 | c.1970T>C (p.Leu657Pro) c.1730T>C (p.Leu577Pro) c.1574T>C (p.Leu525Pro) c.1743T>C n.1511T>C c.1769T>C (p.Leu590Pro) c.1613T>C (p.Leu538Pro) c.1736T>C (p.Leu579Pro) c.1226T>C (p.Leu409Pro) c.1403T>C (p.Leu468Pro) c.1397T>C (p.Leu466Pro) c.938T>C (p.Leu313Pro) c.467T>C (p.Leu156Pro) n.1899T>C n.2066T>C c.1814T>C (p.Leu605Pro) c.506T>C (p.Leu169Pro) n.2116T>C n.2089T>C | |
8 | g.141168220T>G | CA372343924 | DENND3 | c.1970T>G (p.Leu657Arg) c.1730T>G (p.Leu577Arg) c.1574T>G (p.Leu525Arg) c.1743T>G n.1511T>G c.1769T>G (p.Leu590Arg) c.1613T>G (p.Leu538Arg) c.1736T>G (p.Leu579Arg) c.1226T>G (p.Leu409Arg) c.1403T>G (p.Leu468Arg) c.1397T>G (p.Leu466Arg) c.938T>G (p.Leu313Arg) c.467T>G (p.Leu156Arg) n.1899T>G n.2066T>G c.1814T>G (p.Leu605Arg) c.506T>G (p.Leu169Arg) n.2116T>G n.2089T>G | |
8 | g.141168221C>A | CA463493579 | DENND3 | c.1971C>A (p.Leu657=) c.1731C>A (p.Leu577=) c.1575C>A (p.Leu525=) c.1744C>A n.1512C>A c.1770C>A (p.Leu590=) c.1614C>A (p.Leu538=) c.1737C>A (p.Leu579=) c.1227C>A (p.Leu409=) c.1404C>A (p.Leu468=) c.1398C>A (p.Leu466=) c.939C>A (p.Leu313=) c.468C>A (p.Leu156=) n.1900C>A n.2067C>A c.1815C>A (p.Leu605=) c.507C>A (p.Leu169=) n.2117C>A n.2090C>A | gnomAD v4 |
8 | g.141168221C>G | CA463493581 | DENND3 | c.1971C>G (p.Leu657=) c.1731C>G (p.Leu577=) c.1575C>G (p.Leu525=) c.1744C>G n.1512C>G c.1770C>G (p.Leu590=) c.1614C>G (p.Leu538=) c.1737C>G (p.Leu579=) c.1227C>G (p.Leu409=) c.1404C>G (p.Leu468=) c.1398C>G (p.Leu466=) c.939C>G (p.Leu313=) c.468C>G (p.Leu156=) n.1900C>G n.2067C>G c.1815C>G (p.Leu605=) c.507C>G (p.Leu169=) n.2117C>G n.2090C>G | gnomAD v4 |
8 | g.141168221C>T | CA4896786 | DENND3 | c.1971C>T (p.Leu657=) c.1731C>T (p.Leu577=) c.1575C>T (p.Leu525=) c.1744C>T n.1512C>T c.1770C>T (p.Leu590=) c.1614C>T (p.Leu538=) c.1737C>T (p.Leu579=) c.1227C>T (p.Leu409=) c.1404C>T (p.Leu468=) c.1398C>T (p.Leu466=) c.939C>T (p.Leu313=) c.468C>T (p.Leu156=) n.1900C>T n.2067C>T c.1815C>T (p.Leu605=) c.507C>T (p.Leu169=) n.2117C>T n.2090C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168222T>A | CA372343925 | DENND3 | c.1972T>A (p.Leu658Met) c.1732T>A (p.Leu578Met) c.1576T>A (p.Leu526Met) c.1745T>A n.1513T>A c.1771T>A (p.Leu591Met) c.1615T>A (p.Leu539Met) c.1738T>A (p.Leu580Met) c.1228T>A (p.Leu410Met) c.1405T>A (p.Leu469Met) c.1399T>A (p.Leu467Met) c.940T>A (p.Leu314Met) c.469T>A (p.Leu157Met) n.1901T>A n.2068T>A c.1816T>A (p.Leu606Met) c.508T>A (p.Leu170Met) n.2118T>A n.2091T>A | |
8 | g.141168222T>C | CA463493587 | DENND3 | c.1972T>C (p.Leu658=) c.1732T>C (p.Leu578=) c.1576T>C (p.Leu526=) c.1745T>C n.1513T>C c.1771T>C (p.Leu591=) c.1615T>C (p.Leu539=) c.1738T>C (p.Leu580=) c.1228T>C (p.Leu410=) c.1405T>C (p.Leu469=) c.1399T>C (p.Leu467=) c.940T>C (p.Leu314=) c.469T>C (p.Leu157=) n.1901T>C n.2068T>C c.1816T>C (p.Leu606=) c.508T>C (p.Leu170=) n.2118T>C n.2091T>C | COSMIC |
8 | g.141168222T>G | CA372343926 | DENND3 | c.1972T>G (p.Leu658Val) c.1732T>G (p.Leu578Val) c.1576T>G (p.Leu526Val) c.1745T>G n.1513T>G c.1771T>G (p.Leu591Val) c.1615T>G (p.Leu539Val) c.1738T>G (p.Leu580Val) c.1228T>G (p.Leu410Val) c.1405T>G (p.Leu469Val) c.1399T>G (p.Leu467Val) c.940T>G (p.Leu314Val) c.469T>G (p.Leu157Val) n.1901T>G n.2068T>G c.1816T>G (p.Leu606Val) c.508T>G (p.Leu170Val) n.2118T>G n.2091T>G | |
8 | g.141168223T>A | CA372343927 | DENND3 | c.1973T>A (p.Leu658Ter) c.1733T>A (p.Leu578Ter) c.1577T>A (p.Leu526Ter) c.1746T>A n.1514T>A c.1772T>A (p.Leu591Ter) c.1616T>A (p.Leu539Ter) c.1739T>A (p.Leu580Ter) c.1229T>A (p.Leu410Ter) c.1406T>A (p.Leu469Ter) c.1400T>A (p.Leu467Ter) c.941T>A (p.Leu314Ter) c.470T>A (p.Leu157Ter) n.1902T>A n.2069T>A c.1817T>A (p.Leu606Ter) c.509T>A (p.Leu170Ter) n.2119T>A n.2092T>A | |
8 | g.141168223T>C | CA372343928 | DENND3 | c.1973T>C (p.Leu658Ser) c.1733T>C (p.Leu578Ser) c.1577T>C (p.Leu526Ser) c.1746T>C n.1514T>C c.1772T>C (p.Leu591Ser) c.1616T>C (p.Leu539Ser) c.1739T>C (p.Leu580Ser) c.1229T>C (p.Leu410Ser) c.1406T>C (p.Leu469Ser) c.1400T>C (p.Leu467Ser) c.941T>C (p.Leu314Ser) c.470T>C (p.Leu157Ser) n.1902T>C n.2069T>C c.1817T>C (p.Leu606Ser) c.509T>C (p.Leu170Ser) n.2119T>C n.2092T>C | |
8 | g.141168223T>G | CA372343929 | DENND3 | c.1973T>G (p.Leu658Trp) c.1733T>G (p.Leu578Trp) c.1577T>G (p.Leu526Trp) c.1746T>G n.1514T>G c.1772T>G (p.Leu591Trp) c.1616T>G (p.Leu539Trp) c.1739T>G (p.Leu580Trp) c.1229T>G (p.Leu410Trp) c.1406T>G (p.Leu469Trp) c.1400T>G (p.Leu467Trp) c.941T>G (p.Leu314Trp) c.470T>G (p.Leu157Trp) n.1902T>G n.2069T>G c.1817T>G (p.Leu606Trp) c.509T>G (p.Leu170Trp) n.2119T>G n.2092T>G |