Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168121C>ACA372343720DENND3c.1871C>A (p.Ala624Asp)
c.1631C>A (p.Ala544Asp)
c.1475C>A (p.Ala492Asp)
c.1644C>A
n.1412C>A
c.1670C>A (p.Ala557Asp)
c.1514C>A (p.Ala505Asp)
c.1637C>A (p.Ala546Asp)
c.1127C>A (p.Ala376Asp)
c.1304C>A (p.Ala435Asp)
c.1298C>A (p.Ala433Asp)
c.839C>A (p.Ala280Asp)
c.368C>A (p.Ala123Asp)
n.1800C>A
n.1967C>A
c.1715C>A (p.Ala572Asp)
c.407C>A (p.Ala136Asp)
n.2017C>A
n.1990C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.141168121C>GCA372343721DENND3c.1871C>G (p.Ala624Gly)
c.1631C>G (p.Ala544Gly)
c.1475C>G (p.Ala492Gly)
c.1644C>G
n.1412C>G
c.1670C>G (p.Ala557Gly)
c.1514C>G (p.Ala505Gly)
c.1637C>G (p.Ala546Gly)
c.1127C>G (p.Ala376Gly)
c.1304C>G (p.Ala435Gly)
c.1298C>G (p.Ala433Gly)
c.839C>G (p.Ala280Gly)
c.368C>G (p.Ala123Gly)
n.1800C>G
n.1967C>G
c.1715C>G (p.Ala572Gly)
c.407C>G (p.Ala136Gly)
n.2017C>G
n.1990C>G
8g.141168121C>TCA187325596DENND3c.1871C>T (p.Ala624Val)
c.1631C>T (p.Ala544Val)
c.1475C>T (p.Ala492Val)
c.1644C>T
n.1412C>T
c.1670C>T (p.Ala557Val)
c.1514C>T (p.Ala505Val)
c.1637C>T (p.Ala546Val)
c.1127C>T (p.Ala376Val)
c.1304C>T (p.Ala435Val)
c.1298C>T (p.Ala433Val)
c.839C>T (p.Ala280Val)
c.368C>T (p.Ala123Val)
n.1800C>T
n.1967C>T
c.1715C>T (p.Ala572Val)
c.407C>T (p.Ala136Val)
n.2017C>T
n.1990C>T
 dbSNP gnomAD v4
8g.141168122C>ACA463493254DENND3c.1872C>A (p.Ala624=)
c.1632C>A (p.Ala544=)
c.1476C>A (p.Ala492=)
c.1645C>A
n.1413C>A
c.1671C>A (p.Ala557=)
c.1515C>A (p.Ala505=)
c.1638C>A (p.Ala546=)
c.1128C>A (p.Ala376=)
c.1305C>A (p.Ala435=)
c.1299C>A (p.Ala433=)
c.840C>A (p.Ala280=)
c.369C>A (p.Ala123=)
n.1801C>A
n.1968C>A
c.1716C>A (p.Ala572=)
c.408C>A (p.Ala136=)
n.2018C>A
n.1991C>A
 dbSNP gnomAD v2 gnomAD v4
8g.141168122C>GCA463493255DENND3c.1872C>G (p.Ala624=)
c.1632C>G (p.Ala544=)
c.1476C>G (p.Ala492=)
c.1645C>G
n.1413C>G
c.1671C>G (p.Ala557=)
c.1515C>G (p.Ala505=)
c.1638C>G (p.Ala546=)
c.1128C>G (p.Ala376=)
c.1305C>G (p.Ala435=)
c.1299C>G (p.Ala433=)
c.840C>G (p.Ala280=)
c.369C>G (p.Ala123=)
n.1801C>G
n.1968C>G
c.1716C>G (p.Ala572=)
c.408C>G (p.Ala136=)
n.2018C>G
n.1991C>G
 dbSNP
8g.141168122C>TCA463493256DENND3c.1872C>T (p.Ala624=)
c.1632C>T (p.Ala544=)
c.1476C>T (p.Ala492=)
c.1645C>T
n.1413C>T
c.1671C>T (p.Ala557=)
c.1515C>T (p.Ala505=)
c.1638C>T (p.Ala546=)
c.1128C>T (p.Ala376=)
c.1305C>T (p.Ala435=)
c.1299C>T (p.Ala433=)
c.840C>T (p.Ala280=)
c.369C>T (p.Ala123=)
n.1801C>T
n.1968C>T
c.1716C>T (p.Ala572=)
c.408C>T (p.Ala136=)
n.2018C>T
n.1991C>T
 gnomAD v4
8g.141168123A>CCA372343722DENND3c.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
8g.141168123A>GCA4896764DENND3c.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
8g.141168123A>TCA372343723DENND3c.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
8g.141168124T>ACA372343724DENND3c.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
8g.141168124T>CCA4896765DENND3c.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
8g.141168124T>GCA372343725DENND3c.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
8g.141168125G>ACA372343726DENND3c.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
8g.141168125G>CCA372343728DENND3c.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
8g.141168125G>TCA372343727DENND3c.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
8g.141168126T>ACA372343729DENND3c.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
8g.141168126T>CCA372343730DENND3c.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
8g.141168126T>GCA372343731DENND3c.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
8g.141168127G>ACA372343732DENND3c.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
8g.141168127G>CCA4896766DENND3c.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
8g.141168127G>TCA372343733DENND3c.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
8g.141168128C>ACA372343734DENND3c.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
8g.141168128C>GCA372343735DENND3c.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
8g.141168128C>TCA463493257DENND3c.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
8g.141168129T>ACA372343736DENND3c.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
8g.141168129T>CCA372343737DENND3c.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
8g.141168129T>GCA372343738DENND3c.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
8g.141168130T>ACA372343741DENND3c.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
8g.141168130T>CCA372343739DENND3c.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
8g.141168130T>GCA372343740DENND3c.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
8g.141168131T>ACA372343742DENND3c.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
8g.141168131T>CCA463493258DENND3c.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
8g.141168131T>GCA372343743DENND3c.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
8g.141168132C>ACA372343744DENND3c.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
8g.141168132C>GCA372343745DENND3c.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
8g.141168132C>TCA463493259DENND3c.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
8g.141168133T>ACA372343746DENND3c.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
8g.141168133T>CCA372343747DENND3c.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
8g.141168133T>GCA372343748DENND3c.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
8g.141168134G>ACA463493262DENND3c.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
8g.141168134G>CCA463493261DENND3c.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
8g.141168134G>TCA463493260DENND3c.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
8g.141168135G>ACA4896767DENND3c.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
8g.141168135G>CCA372343749DENND3c.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
8g.141168135G>TCA372343750DENND3c.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
8g.141168136C>ACA372343752DENND3c.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
8g.141168136C>GCA372343753DENND3c.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
8g.141168136C>TCA372343751DENND3c.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
8g.141168137C>ACA463493263DENND3c.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
8g.141168137C>GCA463493264DENND3c.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
8g.141168137C>TCA463493265DENND3c.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
8g.141168138C>ACA372343754DENND3c.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
8g.141168138C>GCA372343755DENND3c.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
8g.141168138C>TCA372343756DENND3c.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
8g.141168139C>ACA372343757DENND3c.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
8g.141168139C>GCA372343758DENND3c.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
8g.141168139C>TCA372343759DENND3c.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
8g.141168140C>ACA463493266DENND3c.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
8g.141168140C>GCA463493267DENND3c.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
8g.141168140C>TCA4896768DENND3c.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
8g.141168141G>ACA4896769DENND3c.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
8g.141168141G>CCA372343760DENND3c.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
8g.141168141G>TCA372343761DENND3c.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
8g.141168142A>CCA372343762DENND3c.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
8g.141168142A>GCA372343763DENND3c.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
8g.141168142A>TCA372343764DENND3c.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
8g.141168143T>ACA372343766DENND3c.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
8g.141168143T>CCA463493268DENND3c.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
8g.141168143T>GCA372343765DENND3c.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
8g.141168144A>CCA372343767DENND3c.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
8g.141168144A>GCA372343768DENND3c.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
8g.141168144A>TCA372343769DENND3c.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
8g.141168145A>CCA372343770DENND3c.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
8g.141168145A>GCA372343771DENND3c.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
8g.141168145A>TCA372343772DENND3c.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
8g.141168146C>ACA372343773DENND3c.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
8g.141168146C>GCA4896770DENND3c.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
8g.141168146C>TCA463493269DENND3c.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
8g.141168147T>ACA372343774DENND3c.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
8g.141168147T>CCA372343775DENND3c.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
8g.141168147T>GCA4896771DENND3c.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
8g.141168148C>ACA372343776DENND3c.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
8g.141168148C>GCA372343777DENND3c.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
8g.141168148C>TCA372343778DENND3c.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
8g.141168149T>ACA463493273DENND3c.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
8g.141168149T>CCA463493272DENND3c.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
8g.141168149T>GCA463493271DENND3c.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
8g.141168150C>ACA372343780DENND3c.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
8g.141168150C>GCA372343779DENND3c.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
8g.141168150C>TCA463493274DENND3c.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
8g.141168151T>ACA372343781DENND3c.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
8g.141168151T>CCA372343783DENND3c.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
8g.141168151T>GCA372343782DENND3c.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
8g.141168152G>ACA463493275DENND3c.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
8g.141168152G>CCA463493276DENND3c.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
8g.141168152G>TCA463493277DENND3c.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
8g.141168153C>ACA372343784DENND3c.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
8g.141168153C>GCA372343786DENND3c.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
8g.141168153C>TCA372343785DENND3c.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
8g.141168154T>ACA372343787DENND3c.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
8g.141168154T>CCA372343789DENND3c.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
8g.141168154T>GCA372343788DENND3c.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
8g.141168155C>ACA463493285DENND3c.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
8g.141168155C>GCA463493287DENND3c.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
8g.141168155C>TCA463493289DENND3c.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
8g.141168156C>ACA372343790DENND3c.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
8g.141168156C>GCA372343791DENND3c.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
8g.141168156C>TCA463493303DENND3c.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
8g.141168157T>ACA372343792DENND3c.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
8g.141168157T>CCA372343793DENND3c.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
8g.141168157T>GCA372343794DENND3c.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
8g.141168158G>ACA463493310DENND3c.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
8g.141168158G>CCA463493312DENND3c.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
8g.141168158G>TCA463493314DENND3c.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
8g.141168159G>ACA372343795DENND3c.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
8g.141168159G>CCA372343796DENND3c.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
8g.141168159G>TCA372343797DENND3c.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
8g.141168160C>ACA372343798DENND3c.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
8g.141168160C>GCA372343799DENND3c.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
8g.141168160C>TCA372343800DENND3c.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
8g.141168161C>ACA463493322DENND3c.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
8g.141168161C>GCA463493324DENND3c.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
8g.141168161C>TCA463493325DENND3c.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
8g.141168162C>ACA372343802DENND3c.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
8g.141168162C>GCA372343801DENND3c.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
8g.141168162C>TCA4896772DENND3c.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
8g.141168163G>ACA4896773DENND3c.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
8g.141168163G>CCA372343803DENND3c.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
8g.141168163G>TCA372343804DENND3c.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
8g.141168164C>ACA463493334DENND3c.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
8g.141168164C>GCA4896774DENND3c.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
8g.141168164C>TCA463493336DENND3c.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
8g.141168165T>ACA372343805DENND3c.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
8g.141168165T>CCA372343806DENND3c.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
8g.141168165T>GCA372343807DENND3c.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
8g.141168166A>CCA372343808DENND3c.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
8g.141168166A>GCA372343809DENND3c.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
8g.141168166A>TCA372343810DENND3c.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
8g.141168167T>ACA372343812DENND3c.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
8g.141168167T>CCA4896775DENND3c.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
8g.141168167T>GCA372343811DENND3c.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
8g.141168168T>ACA372343813DENND3c.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
8g.141168168T>CCA4896776DENND3c.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
8g.141168168T>GCA372343814DENND3c.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
8g.141168169T>ACA372343815DENND3c.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
8g.141168169T>CCA372343816DENND3c.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
8g.141168169T>GCA372343817DENND3c.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
8g.141168170G>ACA187325664DENND3c.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
8g.141168170G>CCA372343818DENND3c.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
8g.141168170G>TCA372343819DENND3c.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
8g.141168171T>ACA372343820DENND3c.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
8g.141168171T>CCA372343821DENND3c.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
8g.141168171T>GCA372343822DENND3c.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
8g.141168172A>CCA372343825DENND3c.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
8g.141168172A>GCA372343824DENND3c.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
8g.141168172A>TCA372343823DENND3c.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
8g.141168173C>ACA372343826DENND3c.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
8g.141168173C>GCA372343827DENND3c.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
8g.141168173C>TCA463493373DENND3c.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
8g.141168174C>ACA372343828DENND3c.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
8g.141168174C>GCA372343829DENND3c.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
8g.141168174C>TCA187325666DENND3c.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
8g.141168175T>ACA372343830DENND3c.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
8g.141168175T>CCA372343831DENND3c.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
8g.141168175T>GCA372343832DENND3c.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
8g.141168176C>ACA463493383DENND3c.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
8g.141168176C>GCA463493387DENND3c.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
8g.141168176C>TCA463493385DENND3c.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
8g.141168177C>ACA463493389DENND3c.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
8g.141168177C>GCA372343833DENND3c.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
8g.141168177C>TCA4896777DENND3c.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
8g.141168178G>ACA372343834DENND3c.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
8g.141168178G>CCA372343835DENND3c.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
8g.141168178G>TCA372343836DENND3c.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
8g.141168179A>CCA463493399DENND3c.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
8g.141168179A>GCA463493400DENND3c.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
8g.141168179A>TCA463493403DENND3c.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
8g.141168180G>ACA372343838DENND3c.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
8g.141168180G>CCA372343839DENND3c.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
8g.141168180G>TCA372343837DENND3c.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
8g.141168181G>ACA372343840DENND3c.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
8g.141168181G>CCA372343841DENND3c.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
8g.141168181G>TCA372343842DENND3c.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
8g.141168182G>ACA463493413DENND3c.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
8g.141168182G>CCA187325668DENND3c.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
8g.141168182G>TCA463493415DENND3c.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
8g.141168183C>ACA372343843DENND3c.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
8g.141168183C>GCA372343844DENND3c.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
8g.141168183C>TCA372343845DENND3c.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
8g.141168184T>ACA372343846DENND3c.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
8g.141168184T>CCA372343847DENND3c.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
8g.141168184T>GCA372343848DENND3c.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
8g.141168185C>ACA463493426DENND3c.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
8g.141168185C>GCA463493428DENND3c.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
8g.141168185C>TCA4896778DENND3c.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
8g.141168186G>ACA4896779DENND3c.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
8g.141168186G>CCA372343849DENND3c.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
8g.141168186G>TCA372343850DENND3c.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
8g.141168187T>ACA372343853DENND3c.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
8g.141168187T>CCA372343852DENND3c.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
8g.141168187T>GCA372343851DENND3c.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
8g.141168188_141168189dupCA2579262220DENND3c.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
8g.141168188T>ACA463493441DENND3c.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
8g.141168188T>CCA463493442DENND3c.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
8g.141168188T>GCA463493443DENND3c.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
8g.141168189T>ACA372343854DENND3c.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
8g.141168189T>CCA372343855DENND3c.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
8g.141168189T>GCA372343856DENND3c.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
8g.141168190A>CCA372343857DENND3c.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
8g.141168190A>GCA372343858DENND3c.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
8g.141168190A>TCA372343859DENND3c.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
8g.141168191T>ACA372343860DENND3c.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
8g.141168191T>CCA463493453DENND3c.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
8g.141168191T>GCA372343861DENND3c.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
8g.141168192C>ACA372343862DENND3c.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
8g.141168192C>GCA372343863DENND3c.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
8g.141168192C>TCA463493455DENND3c.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
8g.141168193T>ACA372343864DENND3c.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
8g.141168193T>CCA372343865DENND3c.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
8g.141168193T>GCA372343866DENND3c.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
8g.141168194G>ACA463493462DENND3c.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
8g.141168194G>CCA4896780DENND3c.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
8g.141168194G>TCA463493468DENND3c.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
8g.141168195A>CCA372343868DENND3c.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
8g.141168195A>GCA372343869DENND3c.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
8g.141168195A>TCA372343867DENND3c.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
8g.141168196T>ACA372343870DENND3c.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
8g.141168196T>CCA4896781DENND3c.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
8g.141168196T>GCA4896782DENND3c.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
8g.141168197G>ACA372343871DENND3c.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
8g.141168197G>CCA372343872DENND3c.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
8g.141168197G>TCA372343873DENND3c.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
8g.141168198C>ACA372343876DENND3c.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
8g.141168198C>GCA372343874DENND3c.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
8g.141168198C>TCA372343875DENND3c.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
8g.141168199A>CCA372343877DENND3c.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
8g.141168199A>GCA372343878DENND3c.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
8g.141168199A>TCA372343879DENND3c.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
8g.141168200G>ACA463493494DENND3c.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
8g.141168200G>CCA372343880DENND3c.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
8g.141168200G>TCA372343881DENND3c.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
8g.141168201G>ACA372343882DENND3c.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
8g.141168201G>CCA372343884DENND3c.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
8g.141168201G>TCA372343883DENND3c.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
8g.141168202G>ACA372343885DENND3c.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
8g.141168202G>CCA372343886DENND3c.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
8g.141168202G>TCA372343887DENND3c.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
8g.141168203A>CCA463493503DENND3c.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
8g.141168203A>GCA463493507DENND3c.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
8g.141168203A>TCA463493505DENND3c.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
8g.141168204C>ACA372343888DENND3c.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
8g.141168204C>GCA372343889DENND3c.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
8g.141168204C>TCA372343890DENND3c.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
8g.141168205A>CCA372343891DENND3c.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
8g.141168205A>GCA372343892DENND3c.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
8g.141168205A>TCA372343893DENND3c.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
8g.141168206G>ACA463493518DENND3c.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
8g.141168206G>CCA372343894DENND3c.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
8g.141168206G>TCA372343895DENND3c.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
8g.141168207C>ACA372343896DENND3c.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
8g.141168207C>GCA372343897DENND3c.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
8g.141168207C>TCA463493524DENND3c.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
8g.141168208delCA2688780175DENND3c.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
8g.141168208T>ACA372343898DENND3c.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
8g.141168208T>CCA372343900DENND3c.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
8g.141168208T>GCA372343899DENND3c.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
8g.141168209G>ACA463493530DENND3c.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
8g.141168209G>CCA463493534DENND3c.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
8g.141168209G>TCA463493532DENND3c.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
8g.141168210C>ACA372343901DENND3c.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
8g.141168210C>GCA372343902DENND3c.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
8g.141168210C>TCA463493538DENND3c.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
8g.141168211T>ACA372343903DENND3c.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
8g.141168211T>CCA372343904DENND3c.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
8g.141168211T>GCA372343905DENND3c.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
8g.141168212delCA2688780181DENND3c.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
8g.141168212G>ACA463493544DENND3c.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
8g.141168212G>CCA463493546DENND3c.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
8g.141168212G>TCA4896783DENND3c.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
8g.141168213A>CCA372343906DENND3c.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
8g.141168213A>GCA4896784DENND3c.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
8g.141168213A>TCA372343907DENND3c.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
8g.141168214A>CCA372343908DENND3c.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
8g.141168214A>GCA372343909DENND3c.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
8g.141168214A>TCA372343910DENND3c.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
8g.141168215C>ACA372343911DENND3c.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
8g.141168215C>GCA372343912DENND3c.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
8g.141168215C>TCA4896785DENND3c.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
8g.141168216G>ACA372343913DENND3c.1966G>A (p.Ala656Thr)
c.1726G>A (p.Ala576Thr)
c.1570G>A (p.Ala524Thr)
c.1739G>A
n.1507G>A
c.1765G>A (p.Ala589Thr)
c.1609G>A (p.Ala537Thr)
c.1732G>A (p.Ala578Thr)
c.1222G>A (p.Ala408Thr)
c.1399G>A (p.Ala467Thr)
c.1393G>A (p.Ala465Thr)
c.934G>A (p.Ala312Thr)
c.463G>A (p.Ala155Thr)
n.1895G>A
n.2062G>A
c.1810G>A (p.Ala604Thr)
c.502G>A (p.Ala168Thr)
n.2112G>A
n.2085G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.141168216G>CCA372343915DENND3c.1966G>C (p.Ala656Pro)
c.1726G>C (p.Ala576Pro)
c.1570G>C (p.Ala524Pro)
c.1739G>C
n.1507G>C
c.1765G>C (p.Ala589Pro)
c.1609G>C (p.Ala537Pro)
c.1732G>C (p.Ala578Pro)
c.1222G>C (p.Ala408Pro)
c.1399G>C (p.Ala467Pro)
c.1393G>C (p.Ala465Pro)
c.934G>C (p.Ala312Pro)
c.463G>C (p.Ala155Pro)
n.1895G>C
n.2062G>C
c.1810G>C (p.Ala604Pro)
c.502G>C (p.Ala168Pro)
n.2112G>C
n.2085G>C
8g.141168216G>TCA372343914DENND3c.1966G>T (p.Ala656Ser)
c.1726G>T (p.Ala576Ser)
c.1570G>T (p.Ala524Ser)
c.1739G>T
n.1507G>T
c.1765G>T (p.Ala589Ser)
c.1609G>T (p.Ala537Ser)
c.1732G>T (p.Ala578Ser)
c.1222G>T (p.Ala408Ser)
c.1399G>T (p.Ala467Ser)
c.1393G>T (p.Ala465Ser)
c.934G>T (p.Ala312Ser)
c.463G>T (p.Ala155Ser)
n.1895G>T
n.2062G>T
c.1810G>T (p.Ala604Ser)
c.502G>T (p.Ala168Ser)
n.2112G>T
n.2085G>T
8g.141168217C>ACA372343916DENND3c.1967C>A (p.Ala656Asp)
c.1727C>A (p.Ala576Asp)
c.1571C>A (p.Ala524Asp)
c.1740C>A
n.1508C>A
c.1766C>A (p.Ala589Asp)
c.1610C>A (p.Ala537Asp)
c.1733C>A (p.Ala578Asp)
c.1223C>A (p.Ala408Asp)
c.1400C>A (p.Ala467Asp)
c.1394C>A (p.Ala465Asp)
c.935C>A (p.Ala312Asp)
c.464C>A (p.Ala155Asp)
n.1896C>A
n.2063C>A
c.1811C>A (p.Ala604Asp)
c.503C>A (p.Ala168Asp)
n.2113C>A
n.2086C>A
8g.141168217C>GCA372343917DENND3c.1967C>G (p.Ala656Gly)
c.1727C>G (p.Ala576Gly)
c.1571C>G (p.Ala524Gly)
c.1740C>G
n.1508C>G
c.1766C>G (p.Ala589Gly)
c.1610C>G (p.Ala537Gly)
c.1733C>G (p.Ala578Gly)
c.1223C>G (p.Ala408Gly)
c.1400C>G (p.Ala467Gly)
c.1394C>G (p.Ala465Gly)
c.935C>G (p.Ala312Gly)
c.464C>G (p.Ala155Gly)
n.1896C>G
n.2063C>G
c.1811C>G (p.Ala604Gly)
c.503C>G (p.Ala168Gly)
n.2113C>G
n.2086C>G
8g.141168217C>TCA372343918DENND3c.1967C>T (p.Ala656Val)
c.1727C>T (p.Ala576Val)
c.1571C>T (p.Ala524Val)
c.1740C>T
n.1508C>T
c.1766C>T (p.Ala589Val)
c.1610C>T (p.Ala537Val)
c.1733C>T (p.Ala578Val)
c.1223C>T (p.Ala408Val)
c.1400C>T (p.Ala467Val)
c.1394C>T (p.Ala465Val)
c.935C>T (p.Ala312Val)
c.464C>T (p.Ala155Val)
n.1896C>T
n.2063C>T
c.1811C>T (p.Ala604Val)
c.503C>T (p.Ala168Val)
n.2113C>T
n.2086C>T
 gnomAD v4
8g.141168218C>ACA463493565DENND3c.1968C>A (p.Ala656=)
c.1728C>A (p.Ala576=)
c.1572C>A (p.Ala524=)
c.1741C>A
n.1509C>A
c.1767C>A (p.Ala589=)
c.1611C>A (p.Ala537=)
c.1734C>A (p.Ala578=)
c.1224C>A (p.Ala408=)
c.1401C>A (p.Ala467=)
c.1395C>A (p.Ala465=)
c.936C>A (p.Ala312=)
c.465C>A (p.Ala155=)
n.1897C>A
n.2064C>A
c.1812C>A (p.Ala604=)
c.504C>A (p.Ala168=)
n.2114C>A
n.2087C>A
 dbSNP
8g.141168218C>GCA463493567DENND3c.1968C>G (p.Ala656=)
c.1728C>G (p.Ala576=)
c.1572C>G (p.Ala524=)
c.1741C>G
n.1509C>G
c.1767C>G (p.Ala589=)
c.1611C>G (p.Ala537=)
c.1734C>G (p.Ala578=)
c.1224C>G (p.Ala408=)
c.1401C>G (p.Ala467=)
c.1395C>G (p.Ala465=)
c.936C>G (p.Ala312=)
c.465C>G (p.Ala155=)
n.1897C>G
n.2064C>G
c.1812C>G (p.Ala604=)
c.504C>G (p.Ala168=)
n.2114C>G
n.2087C>G
8g.141168218C>TCA463493569DENND3c.1968C>T (p.Ala656=)
c.1728C>T (p.Ala576=)
c.1572C>T (p.Ala524=)
c.1741C>T
n.1509C>T
c.1767C>T (p.Ala589=)
c.1611C>T (p.Ala537=)
c.1734C>T (p.Ala578=)
c.1224C>T (p.Ala408=)
c.1401C>T (p.Ala467=)
c.1395C>T (p.Ala465=)
c.936C>T (p.Ala312=)
c.465C>T (p.Ala155=)
n.1897C>T
n.2064C>T
c.1812C>T (p.Ala604=)
c.504C>T (p.Ala168=)
n.2114C>T
n.2087C>T
8g.141168219C>ACA372343919DENND3c.1969C>A (p.Leu657Ile)
c.1729C>A (p.Leu577Ile)
c.1573C>A (p.Leu525Ile)
c.1742C>A
n.1510C>A
c.1768C>A (p.Leu590Ile)
c.1612C>A (p.Leu538Ile)
c.1735C>A (p.Leu579Ile)
c.1225C>A (p.Leu409Ile)
c.1402C>A (p.Leu468Ile)
c.1396C>A (p.Leu466Ile)
c.937C>A (p.Leu313Ile)
c.466C>A (p.Leu156Ile)
n.1898C>A
n.2065C>A
c.1813C>A (p.Leu605Ile)
c.505C>A (p.Leu169Ile)
n.2115C>A
n.2088C>A
8g.141168219C>GCA372343920DENND3c.1969C>G (p.Leu657Val)
c.1729C>G (p.Leu577Val)
c.1573C>G (p.Leu525Val)
c.1742C>G
n.1510C>G
c.1768C>G (p.Leu590Val)
c.1612C>G (p.Leu538Val)
c.1735C>G (p.Leu579Val)
c.1225C>G (p.Leu409Val)
c.1402C>G (p.Leu468Val)
c.1396C>G (p.Leu466Val)
c.937C>G (p.Leu313Val)
c.466C>G (p.Leu156Val)
n.1898C>G
n.2065C>G
c.1813C>G (p.Leu605Val)
c.505C>G (p.Leu169Val)
n.2115C>G
n.2088C>G
8g.141168219C>TCA372343921DENND3c.1969C>T (p.Leu657Phe)
c.1729C>T (p.Leu577Phe)
c.1573C>T (p.Leu525Phe)
c.1742C>T
n.1510C>T
c.1768C>T (p.Leu590Phe)
c.1612C>T (p.Leu538Phe)
c.1735C>T (p.Leu579Phe)
c.1225C>T (p.Leu409Phe)
c.1402C>T (p.Leu468Phe)
c.1396C>T (p.Leu466Phe)
c.937C>T (p.Leu313Phe)
c.466C>T (p.Leu156Phe)
n.1898C>T
n.2065C>T
c.1813C>T (p.Leu605Phe)
c.505C>T (p.Leu169Phe)
n.2115C>T
n.2088C>T
8g.141168220T>ACA372343922DENND3c.1970T>A (p.Leu657His)
c.1730T>A (p.Leu577His)
c.1574T>A (p.Leu525His)
c.1743T>A
n.1511T>A
c.1769T>A (p.Leu590His)
c.1613T>A (p.Leu538His)
c.1736T>A (p.Leu579His)
c.1226T>A (p.Leu409His)
c.1403T>A (p.Leu468His)
c.1397T>A (p.Leu466His)
c.938T>A (p.Leu313His)
c.467T>A (p.Leu156His)
n.1899T>A
n.2066T>A
c.1814T>A (p.Leu605His)
c.506T>A (p.Leu169His)
n.2116T>A
n.2089T>A
8g.141168220T>CCA372343923DENND3c.1970T>C (p.Leu657Pro)
c.1730T>C (p.Leu577Pro)
c.1574T>C (p.Leu525Pro)
c.1743T>C
n.1511T>C
c.1769T>C (p.Leu590Pro)
c.1613T>C (p.Leu538Pro)
c.1736T>C (p.Leu579Pro)
c.1226T>C (p.Leu409Pro)
c.1403T>C (p.Leu468Pro)
c.1397T>C (p.Leu466Pro)
c.938T>C (p.Leu313Pro)
c.467T>C (p.Leu156Pro)
n.1899T>C
n.2066T>C
c.1814T>C (p.Leu605Pro)
c.506T>C (p.Leu169Pro)
n.2116T>C
n.2089T>C
8g.141168220T>GCA372343924DENND3c.1970T>G (p.Leu657Arg)
c.1730T>G (p.Leu577Arg)
c.1574T>G (p.Leu525Arg)
c.1743T>G
n.1511T>G
c.1769T>G (p.Leu590Arg)
c.1613T>G (p.Leu538Arg)
c.1736T>G (p.Leu579Arg)
c.1226T>G (p.Leu409Arg)
c.1403T>G (p.Leu468Arg)
c.1397T>G (p.Leu466Arg)
c.938T>G (p.Leu313Arg)
c.467T>G (p.Leu156Arg)
n.1899T>G
n.2066T>G
c.1814T>G (p.Leu605Arg)
c.506T>G (p.Leu169Arg)
n.2116T>G
n.2089T>G
8g.141168221C>ACA463493579DENND3c.1971C>A (p.Leu657=)
c.1731C>A (p.Leu577=)
c.1575C>A (p.Leu525=)
c.1744C>A
n.1512C>A
c.1770C>A (p.Leu590=)
c.1614C>A (p.Leu538=)
c.1737C>A (p.Leu579=)
c.1227C>A (p.Leu409=)
c.1404C>A (p.Leu468=)
c.1398C>A (p.Leu466=)
c.939C>A (p.Leu313=)
c.468C>A (p.Leu156=)
n.1900C>A
n.2067C>A
c.1815C>A (p.Leu605=)
c.507C>A (p.Leu169=)
n.2117C>A
n.2090C>A
 gnomAD v4
8g.141168221C>GCA463493581DENND3c.1971C>G (p.Leu657=)
c.1731C>G (p.Leu577=)
c.1575C>G (p.Leu525=)
c.1744C>G
n.1512C>G
c.1770C>G (p.Leu590=)
c.1614C>G (p.Leu538=)
c.1737C>G (p.Leu579=)
c.1227C>G (p.Leu409=)
c.1404C>G (p.Leu468=)
c.1398C>G (p.Leu466=)
c.939C>G (p.Leu313=)
c.468C>G (p.Leu156=)
n.1900C>G
n.2067C>G
c.1815C>G (p.Leu605=)
c.507C>G (p.Leu169=)
n.2117C>G
n.2090C>G
 gnomAD v4
8g.141168221C>TCA4896786DENND3c.1971C>T (p.Leu657=)
c.1731C>T (p.Leu577=)
c.1575C>T (p.Leu525=)
c.1744C>T
n.1512C>T
c.1770C>T (p.Leu590=)
c.1614C>T (p.Leu538=)
c.1737C>T (p.Leu579=)
c.1227C>T (p.Leu409=)
c.1404C>T (p.Leu468=)
c.1398C>T (p.Leu466=)
c.939C>T (p.Leu313=)
c.468C>T (p.Leu156=)
n.1900C>T
n.2067C>T
c.1815C>T (p.Leu605=)
c.507C>T (p.Leu169=)
n.2117C>T
n.2090C>T
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched