Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.141168320_141168336dupCA2579262222DENND3c.2070_2086dup (p.Glu696GlyfsTer8)
c.1830_1846dup (p.Glu616GlyfsTer8)
c.1674_1690dup (p.Glu564GlyfsTer8)
c.1843_1859dup
n.1611_1627dup
c.1869_1885dup (p.Glu629GlyfsTer8)
c.1713_1729dup (p.Glu577GlyfsTer8)
c.1836_1852dup (p.Glu618GlyfsTer8)
c.1326_1342dup (p.Glu448GlyfsTer8)
c.1503_1519dup (p.Glu507GlyfsTer8)
c.1497_1513dup (p.Glu505GlyfsTer8)
c.1038_1054dup (p.Glu352GlyfsTer8)
c.567_583dup (p.Glu195GlyfsTer8)
n.1999_2015dup
n.2166_2182dup
c.1914_1930dup (p.Glu644GlyfsTer8)
c.606_622dup (p.Glu208GlyfsTer8)
n.2216_2232dup
n.2189_2205dup
 gnomAD v4
8g.141168322C>ACA372344152DENND3c.2072C>A (p.Ala691Asp)
c.1832C>A (p.Ala611Asp)
c.1676C>A (p.Ala559Asp)
c.1845C>A
n.1613C>A
c.1871C>A (p.Ala624Asp)
c.1715C>A (p.Ala572Asp)
c.1838C>A (p.Ala613Asp)
c.1328C>A (p.Ala443Asp)
c.1505C>A (p.Ala502Asp)
c.1499C>A (p.Ala500Asp)
c.1040C>A (p.Ala347Asp)
c.569C>A (p.Ala190Asp)
n.2001C>A
n.2168C>A
c.1916C>A (p.Ala639Asp)
c.608C>A (p.Ala203Asp)
n.2218C>A
n.2191C>A
8g.141168322C>GCA372344153DENND3c.2072C>G (p.Ala691Gly)
c.1832C>G (p.Ala611Gly)
c.1676C>G (p.Ala559Gly)
c.1845C>G
n.1613C>G
c.1871C>G (p.Ala624Gly)
c.1715C>G (p.Ala572Gly)
c.1838C>G (p.Ala613Gly)
c.1328C>G (p.Ala443Gly)
c.1505C>G (p.Ala502Gly)
c.1499C>G (p.Ala500Gly)
c.1040C>G (p.Ala347Gly)
c.569C>G (p.Ala190Gly)
n.2001C>G
n.2168C>G
c.1916C>G (p.Ala639Gly)
c.608C>G (p.Ala203Gly)
n.2218C>G
n.2191C>G
8g.141168322C>TCA372344154DENND3c.2072C>T (p.Ala691Val)
c.1832C>T (p.Ala611Val)
c.1676C>T (p.Ala559Val)
c.1845C>T
n.1613C>T
c.1871C>T (p.Ala624Val)
c.1715C>T (p.Ala572Val)
c.1838C>T (p.Ala613Val)
c.1328C>T (p.Ala443Val)
c.1505C>T (p.Ala502Val)
c.1499C>T (p.Ala500Val)
c.1040C>T (p.Ala347Val)
c.569C>T (p.Ala190Val)
n.2001C>T
n.2168C>T
c.1916C>T (p.Ala639Val)
c.608C>T (p.Ala203Val)
n.2218C>T
n.2191C>T
8g.141168323T>ACA463496942DENND3c.2073T>A (p.Ala691=)
c.1833T>A (p.Ala611=)
c.1677T>A (p.Ala559=)
c.1846T>A
n.1614T>A
c.1872T>A (p.Ala624=)
c.1716T>A (p.Ala572=)
c.1839T>A (p.Ala613=)
c.1329T>A (p.Ala443=)
c.1506T>A (p.Ala502=)
c.1500T>A (p.Ala500=)
c.1041T>A (p.Ala347=)
c.570T>A (p.Ala190=)
n.2002T>A
n.2169T>A
c.1917T>A (p.Ala639=)
c.609T>A (p.Ala203=)
n.2219T>A
n.2192T>A
8g.141168323T>CCA463496943DENND3c.2073T>C (p.Ala691=)
c.1833T>C (p.Ala611=)
c.1677T>C (p.Ala559=)
c.1846T>C
n.1614T>C
c.1872T>C (p.Ala624=)
c.1716T>C (p.Ala572=)
c.1839T>C (p.Ala613=)
c.1329T>C (p.Ala443=)
c.1506T>C (p.Ala502=)
c.1500T>C (p.Ala500=)
c.1041T>C (p.Ala347=)
c.570T>C (p.Ala190=)
n.2002T>C
n.2169T>C
c.1917T>C (p.Ala639=)
c.609T>C (p.Ala203=)
n.2219T>C
n.2192T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168323T>GCA463496944DENND3c.2073T>G (p.Ala691=)
c.1833T>G (p.Ala611=)
c.1677T>G (p.Ala559=)
c.1846T>G
n.1614T>G
c.1872T>G (p.Ala624=)
c.1716T>G (p.Ala572=)
c.1839T>G (p.Ala613=)
c.1329T>G (p.Ala443=)
c.1506T>G (p.Ala502=)
c.1500T>G (p.Ala500=)
c.1041T>G (p.Ala347=)
c.570T>G (p.Ala190=)
n.2002T>G
n.2169T>G
c.1917T>G (p.Ala639=)
c.609T>G (p.Ala203=)
n.2219T>G
n.2192T>G
8g.141168324G>ACA372344157DENND3c.2074G>A (p.Glu692Lys)
c.1834G>A (p.Glu612Lys)
c.1678G>A (p.Glu560Lys)
c.1847G>A
n.1615G>A
c.1873G>A (p.Glu625Lys)
c.1717G>A (p.Glu573Lys)
c.1840G>A (p.Glu614Lys)
c.1330G>A (p.Glu444Lys)
c.1507G>A (p.Glu503Lys)
c.1501G>A (p.Glu501Lys)
c.1042G>A (p.Glu348Lys)
c.571G>A (p.Glu191Lys)
n.2003G>A
n.2170G>A
c.1918G>A (p.Glu640Lys)
c.610G>A (p.Glu204Lys)
n.2220G>A
n.2193G>A
 gnomAD v4
8g.141168324G>CCA372344155DENND3c.2074G>C (p.Glu692Gln)
c.1834G>C (p.Glu612Gln)
c.1678G>C (p.Glu560Gln)
c.1847G>C
n.1615G>C
c.1873G>C (p.Glu625Gln)
c.1717G>C (p.Glu573Gln)
c.1840G>C (p.Glu614Gln)
c.1330G>C (p.Glu444Gln)
c.1507G>C (p.Glu503Gln)
c.1501G>C (p.Glu501Gln)
c.1042G>C (p.Glu348Gln)
c.571G>C (p.Glu191Gln)
n.2003G>C
n.2170G>C
c.1918G>C (p.Glu640Gln)
c.610G>C (p.Glu204Gln)
n.2220G>C
n.2193G>C
8g.141168324G>TCA372344156DENND3c.2074G>T (p.Glu692Ter)
c.1834G>T (p.Glu612Ter)
c.1678G>T (p.Glu560Ter)
c.1847G>T
n.1615G>T
c.1873G>T (p.Glu625Ter)
c.1717G>T (p.Glu573Ter)
c.1840G>T (p.Glu614Ter)
c.1330G>T (p.Glu444Ter)
c.1507G>T (p.Glu503Ter)
c.1501G>T (p.Glu501Ter)
c.1042G>T (p.Glu348Ter)
c.571G>T (p.Glu191Ter)
n.2003G>T
n.2170G>T
c.1918G>T (p.Glu640Ter)
c.610G>T (p.Glu204Ter)
n.2220G>T
n.2193G>T
 COSMIC
8g.141168325A>CCA372344158DENND3c.2075A>C (p.Glu692Ala)
c.1835A>C (p.Glu612Ala)
c.1679A>C (p.Glu560Ala)
c.1848A>C
n.1616A>C
c.1874A>C (p.Glu625Ala)
c.1718A>C (p.Glu573Ala)
c.1841A>C (p.Glu614Ala)
c.1331A>C (p.Glu444Ala)
c.1508A>C (p.Glu503Ala)
c.1502A>C (p.Glu501Ala)
c.1043A>C (p.Glu348Ala)
c.572A>C (p.Glu191Ala)
n.2004A>C
n.2171A>C
c.1919A>C (p.Glu640Ala)
c.611A>C (p.Glu204Ala)
n.2221A>C
n.2194A>C
8g.141168325A>GCA372344159DENND3c.2075A>G (p.Glu692Gly)
c.1835A>G (p.Glu612Gly)
c.1679A>G (p.Glu560Gly)
c.1848A>G
n.1616A>G
c.1874A>G (p.Glu625Gly)
c.1718A>G (p.Glu573Gly)
c.1841A>G (p.Glu614Gly)
c.1331A>G (p.Glu444Gly)
c.1508A>G (p.Glu503Gly)
c.1502A>G (p.Glu501Gly)
c.1043A>G (p.Glu348Gly)
c.572A>G (p.Glu191Gly)
n.2004A>G
n.2171A>G
c.1919A>G (p.Glu640Gly)
c.611A>G (p.Glu204Gly)
n.2221A>G
n.2194A>G
8g.141168325A>TCA372344160DENND3c.2075A>T (p.Glu692Val)
c.1835A>T (p.Glu612Val)
c.1679A>T (p.Glu560Val)
c.1848A>T
n.1616A>T
c.1874A>T (p.Glu625Val)
c.1718A>T (p.Glu573Val)
c.1841A>T (p.Glu614Val)
c.1331A>T (p.Glu444Val)
c.1508A>T (p.Glu503Val)
c.1502A>T (p.Glu501Val)
c.1043A>T (p.Glu348Val)
c.572A>T (p.Glu191Val)
n.2004A>T
n.2171A>T
c.1919A>T (p.Glu640Val)
c.611A>T (p.Glu204Val)
n.2221A>T
n.2194A>T
8g.141168326G>ACA463496945DENND3c.2076G>A (p.Glu692=)
c.1836G>A (p.Glu612=)
c.1680G>A (p.Glu560=)
c.1849G>A
n.1617G>A
c.1875G>A (p.Glu625=)
c.1719G>A (p.Glu573=)
c.1842G>A (p.Glu614=)
c.1332G>A (p.Glu444=)
c.1509G>A (p.Glu503=)
c.1503G>A (p.Glu501=)
c.1044G>A (p.Glu348=)
c.573G>A (p.Glu191=)
n.2005G>A
n.2172G>A
c.1920G>A (p.Glu640=)
c.612G>A (p.Glu204=)
n.2222G>A
n.2195G>A
8g.141168326G>CCA372344161DENND3c.2076G>C (p.Glu692Asp)
c.1836G>C (p.Glu612Asp)
c.1680G>C (p.Glu560Asp)
c.1849G>C
n.1617G>C
c.1875G>C (p.Glu625Asp)
c.1719G>C (p.Glu573Asp)
c.1842G>C (p.Glu614Asp)
c.1332G>C (p.Glu444Asp)
c.1509G>C (p.Glu503Asp)
c.1503G>C (p.Glu501Asp)
c.1044G>C (p.Glu348Asp)
c.573G>C (p.Glu191Asp)
n.2005G>C
n.2172G>C
c.1920G>C (p.Glu640Asp)
c.612G>C (p.Glu204Asp)
n.2222G>C
n.2195G>C
8g.141168326G>TCA372344162DENND3c.2076G>T (p.Glu692Asp)
c.1836G>T (p.Glu612Asp)
c.1680G>T (p.Glu560Asp)
c.1849G>T
n.1617G>T
c.1875G>T (p.Glu625Asp)
c.1719G>T (p.Glu573Asp)
c.1842G>T (p.Glu614Asp)
c.1332G>T (p.Glu444Asp)
c.1509G>T (p.Glu503Asp)
c.1503G>T (p.Glu501Asp)
c.1044G>T (p.Glu348Asp)
c.573G>T (p.Glu191Asp)
n.2005G>T
n.2172G>T
c.1920G>T (p.Glu640Asp)
c.612G>T (p.Glu204Asp)
n.2222G>T
n.2195G>T
8g.141168327C>ACA372344163DENND3c.2077C>A (p.Gln693Lys)
c.1837C>A (p.Gln613Lys)
c.1681C>A (p.Gln561Lys)
c.1850C>A
n.1618C>A
c.1876C>A (p.Gln626Lys)
c.1720C>A (p.Gln574Lys)
c.1843C>A (p.Gln615Lys)
c.1333C>A (p.Gln445Lys)
c.1510C>A (p.Gln504Lys)
c.1504C>A (p.Gln502Lys)
c.1045C>A (p.Gln349Lys)
c.574C>A (p.Gln192Lys)
n.2006C>A
n.2173C>A
c.1921C>A (p.Gln641Lys)
c.613C>A (p.Gln205Lys)
n.2223C>A
n.2196C>A
 gnomAD v4
8g.141168327C>GCA372344164DENND3c.2077C>G (p.Gln693Glu)
c.1837C>G (p.Gln613Glu)
c.1681C>G (p.Gln561Glu)
c.1850C>G
n.1618C>G
c.1876C>G (p.Gln626Glu)
c.1720C>G (p.Gln574Glu)
c.1843C>G (p.Gln615Glu)
c.1333C>G (p.Gln445Glu)
c.1510C>G (p.Gln504Glu)
c.1504C>G (p.Gln502Glu)
c.1045C>G (p.Gln349Glu)
c.574C>G (p.Gln192Glu)
n.2006C>G
n.2173C>G
c.1921C>G (p.Gln641Glu)
c.613C>G (p.Gln205Glu)
n.2223C>G
n.2196C>G
8g.141168327C>TCA372344165DENND3c.2077C>T (p.Gln693Ter)
c.1837C>T (p.Gln613Ter)
c.1681C>T (p.Gln561Ter)
c.1850C>T
n.1618C>T
c.1876C>T (p.Gln626Ter)
c.1720C>T (p.Gln574Ter)
c.1843C>T (p.Gln615Ter)
c.1333C>T (p.Gln445Ter)
c.1510C>T (p.Gln504Ter)
c.1504C>T (p.Gln502Ter)
c.1045C>T (p.Gln349Ter)
c.574C>T (p.Gln192Ter)
n.2006C>T
n.2173C>T
c.1921C>T (p.Gln641Ter)
c.613C>T (p.Gln205Ter)
n.2223C>T
n.2196C>T
 gnomAD v4
8g.141168328A>CCA372344166DENND3c.2078A>C (p.Gln693Pro)
c.1838A>C (p.Gln613Pro)
c.1682A>C (p.Gln561Pro)
c.1851A>C
n.1619A>C
c.1877A>C (p.Gln626Pro)
c.1721A>C (p.Gln574Pro)
c.1844A>C (p.Gln615Pro)
c.1334A>C (p.Gln445Pro)
c.1511A>C (p.Gln504Pro)
c.1505A>C (p.Gln502Pro)
c.1046A>C (p.Gln349Pro)
c.575A>C (p.Gln192Pro)
n.2007A>C
n.2174A>C
c.1922A>C (p.Gln641Pro)
c.614A>C (p.Gln205Pro)
n.2224A>C
n.2197A>C
8g.141168328A>GCA372344167DENND3c.2078A>G (p.Gln693Arg)
c.1838A>G (p.Gln613Arg)
c.1682A>G (p.Gln561Arg)
c.1851A>G
n.1619A>G
c.1877A>G (p.Gln626Arg)
c.1721A>G (p.Gln574Arg)
c.1844A>G (p.Gln615Arg)
c.1334A>G (p.Gln445Arg)
c.1511A>G (p.Gln504Arg)
c.1505A>G (p.Gln502Arg)
c.1046A>G (p.Gln349Arg)
c.575A>G (p.Gln192Arg)
n.2007A>G
n.2174A>G
c.1922A>G (p.Gln641Arg)
c.614A>G (p.Gln205Arg)
n.2224A>G
n.2197A>G
8g.141168328A>TCA372344168DENND3c.2078A>T (p.Gln693Leu)
c.1838A>T (p.Gln613Leu)
c.1682A>T (p.Gln561Leu)
c.1851A>T
n.1619A>T
c.1877A>T (p.Gln626Leu)
c.1721A>T (p.Gln574Leu)
c.1844A>T (p.Gln615Leu)
c.1334A>T (p.Gln445Leu)
c.1511A>T (p.Gln504Leu)
c.1505A>T (p.Gln502Leu)
c.1046A>T (p.Gln349Leu)
c.575A>T (p.Gln192Leu)
n.2007A>T
n.2174A>T
c.1922A>T (p.Gln641Leu)
c.614A>T (p.Gln205Leu)
n.2224A>T
n.2197A>T
8g.141168329G>ACA187325757DENND3c.2079G>A (p.Gln693=)
c.1839G>A (p.Gln613=)
c.1683G>A (p.Gln561=)
c.1852G>A
n.1620G>A
c.1878G>A (p.Gln626=)
c.1722G>A (p.Gln574=)
c.1845G>A (p.Gln615=)
c.1335G>A (p.Gln445=)
c.1512G>A (p.Gln504=)
c.1506G>A (p.Gln502=)
c.1047G>A (p.Gln349=)
c.576G>A (p.Gln192=)
n.2008G>A
n.2175G>A
c.1923G>A (p.Gln641=)
c.615G>A (p.Gln205=)
n.2225G>A
n.2198G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168329G>CCA372344169DENND3c.2079G>C (p.Gln693His)
c.1839G>C (p.Gln613His)
c.1683G>C (p.Gln561His)
c.1852G>C
n.1620G>C
c.1878G>C (p.Gln626His)
c.1722G>C (p.Gln574His)
c.1845G>C (p.Gln615His)
c.1335G>C (p.Gln445His)
c.1512G>C (p.Gln504His)
c.1506G>C (p.Gln502His)
c.1047G>C (p.Gln349His)
c.576G>C (p.Gln192His)
n.2008G>C
n.2175G>C
c.1923G>C (p.Gln641His)
c.615G>C (p.Gln205His)
n.2225G>C
n.2198G>C
8g.141168329G>TCA372344170DENND3c.2079G>T (p.Gln693His)
c.1839G>T (p.Gln613His)
c.1683G>T (p.Gln561His)
c.1852G>T
n.1620G>T
c.1878G>T (p.Gln626His)
c.1722G>T (p.Gln574His)
c.1845G>T (p.Gln615His)
c.1335G>T (p.Gln445His)
c.1512G>T (p.Gln504His)
c.1506G>T (p.Gln502His)
c.1047G>T (p.Gln349His)
c.576G>T (p.Gln192His)
n.2008G>T
n.2175G>T
c.1923G>T (p.Gln641His)
c.615G>T (p.Gln205His)
n.2225G>T
n.2198G>T
 gnomAD v4
8g.141168330G>ACA372344173DENND3c.2080G>A (p.Ala694Thr)
c.1840G>A (p.Ala614Thr)
c.1684G>A (p.Ala562Thr)
c.1853G>A
n.1621G>A
c.1879G>A (p.Ala627Thr)
c.1723G>A (p.Ala575Thr)
c.1846G>A (p.Ala616Thr)
c.1336G>A (p.Ala446Thr)
c.1513G>A (p.Ala505Thr)
c.1507G>A (p.Ala503Thr)
c.1048G>A (p.Ala350Thr)
c.577G>A (p.Ala193Thr)
n.2009G>A
n.2176G>A
c.1924G>A (p.Ala642Thr)
c.616G>A (p.Ala206Thr)
n.2226G>A
n.2199G>A
8g.141168330G>CCA372344171DENND3c.2080G>C (p.Ala694Pro)
c.1840G>C (p.Ala614Pro)
c.1684G>C (p.Ala562Pro)
c.1853G>C
n.1621G>C
c.1879G>C (p.Ala627Pro)
c.1723G>C (p.Ala575Pro)
c.1846G>C (p.Ala616Pro)
c.1336G>C (p.Ala446Pro)
c.1513G>C (p.Ala505Pro)
c.1507G>C (p.Ala503Pro)
c.1048G>C (p.Ala350Pro)
c.577G>C (p.Ala193Pro)
n.2009G>C
n.2176G>C
c.1924G>C (p.Ala642Pro)
c.616G>C (p.Ala206Pro)
n.2226G>C
n.2199G>C
8g.141168330G>TCA372344172DENND3c.2080G>T (p.Ala694Ser)
c.1840G>T (p.Ala614Ser)
c.1684G>T (p.Ala562Ser)
c.1853G>T
n.1621G>T
c.1879G>T (p.Ala627Ser)
c.1723G>T (p.Ala575Ser)
c.1846G>T (p.Ala616Ser)
c.1336G>T (p.Ala446Ser)
c.1513G>T (p.Ala505Ser)
c.1507G>T (p.Ala503Ser)
c.1048G>T (p.Ala350Ser)
c.577G>T (p.Ala193Ser)
n.2009G>T
n.2176G>T
c.1924G>T (p.Ala642Ser)
c.616G>T (p.Ala206Ser)
n.2226G>T
n.2199G>T
 dbSNP gnomAD v4
8g.141168331C>ACA372344174DENND3c.2081C>A (p.Ala694Glu)
c.1841C>A (p.Ala614Glu)
c.1685C>A (p.Ala562Glu)
c.1854C>A
n.1622C>A
c.1880C>A (p.Ala627Glu)
c.1724C>A (p.Ala575Glu)
c.1847C>A (p.Ala616Glu)
c.1337C>A (p.Ala446Glu)
c.1514C>A (p.Ala505Glu)
c.1508C>A (p.Ala503Glu)
c.1049C>A (p.Ala350Glu)
c.578C>A (p.Ala193Glu)
n.2010C>A
n.2177C>A
c.1925C>A (p.Ala642Glu)
c.617C>A (p.Ala206Glu)
n.2227C>A
n.2200C>A
 gnomAD v4
8g.141168331C>GCA372344175DENND3c.2081C>G (p.Ala694Gly)
c.1841C>G (p.Ala614Gly)
c.1685C>G (p.Ala562Gly)
c.1854C>G
n.1622C>G
c.1880C>G (p.Ala627Gly)
c.1724C>G (p.Ala575Gly)
c.1847C>G (p.Ala616Gly)
c.1337C>G (p.Ala446Gly)
c.1514C>G (p.Ala505Gly)
c.1508C>G (p.Ala503Gly)
c.1049C>G (p.Ala350Gly)
c.578C>G (p.Ala193Gly)
n.2010C>G
n.2177C>G
c.1925C>G (p.Ala642Gly)
c.617C>G (p.Ala206Gly)
n.2227C>G
n.2200C>G
8g.141168331C>TCA4896801DENND3c.2081C>T (p.Ala694Val)
c.1841C>T (p.Ala614Val)
c.1685C>T (p.Ala562Val)
c.1854C>T
n.1622C>T
c.1880C>T (p.Ala627Val)
c.1724C>T (p.Ala575Val)
c.1847C>T (p.Ala616Val)
c.1337C>T (p.Ala446Val)
c.1514C>T (p.Ala505Val)
c.1508C>T (p.Ala503Val)
c.1049C>T (p.Ala350Val)
c.578C>T (p.Ala193Val)
n.2010C>T
n.2177C>T
c.1925C>T (p.Ala642Val)
c.617C>T (p.Ala206Val)
n.2227C>T
n.2200C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168332G>ACA187325764DENND3c.2082G>A (p.Ala694=)
c.1842G>A (p.Ala614=)
c.1686G>A (p.Ala562=)
c.1855G>A
n.1623G>A
c.1881G>A (p.Ala627=)
c.1725G>A (p.Ala575=)
c.1848G>A (p.Ala616=)
c.1338G>A (p.Ala446=)
c.1515G>A (p.Ala505=)
c.1509G>A (p.Ala503=)
c.1050G>A (p.Ala350=)
c.579G>A (p.Ala193=)
n.2011G>A
n.2178G>A
c.1926G>A (p.Ala642=)
c.618G>A (p.Ala206=)
n.2228G>A
n.2201G>A
 dbSNP gnomAD v4
8g.141168332G>CCA463496946DENND3c.2082G>C (p.Ala694=)
c.1842G>C (p.Ala614=)
c.1686G>C (p.Ala562=)
c.1855G>C
n.1623G>C
c.1881G>C (p.Ala627=)
c.1725G>C (p.Ala575=)
c.1848G>C (p.Ala616=)
c.1338G>C (p.Ala446=)
c.1515G>C (p.Ala505=)
c.1509G>C (p.Ala503=)
c.1050G>C (p.Ala350=)
c.579G>C (p.Ala193=)
n.2011G>C
n.2178G>C
c.1926G>C (p.Ala642=)
c.618G>C (p.Ala206=)
n.2228G>C
n.2201G>C
8g.141168332G>TCA463496947DENND3c.2082G>T (p.Ala694=)
c.1842G>T (p.Ala614=)
c.1686G>T (p.Ala562=)
c.1855G>T
n.1623G>T
c.1881G>T (p.Ala627=)
c.1725G>T (p.Ala575=)
c.1848G>T (p.Ala616=)
c.1338G>T (p.Ala446=)
c.1515G>T (p.Ala505=)
c.1509G>T (p.Ala503=)
c.1050G>T (p.Ala350=)
c.579G>T (p.Ala193=)
n.2011G>T
n.2178G>T
c.1926G>T (p.Ala642=)
c.618G>T (p.Ala206=)
n.2228G>T
n.2201G>T
8g.141168333C>ACA372344176DENND3c.2083C>A (p.Pro695Thr)
c.1843C>A (p.Pro615Thr)
c.1687C>A (p.Pro563Thr)
c.1856C>A
n.1624C>A
c.1882C>A (p.Pro628Thr)
c.1726C>A (p.Pro576Thr)
c.1849C>A (p.Pro617Thr)
c.1339C>A (p.Pro447Thr)
c.1516C>A (p.Pro506Thr)
c.1510C>A (p.Pro504Thr)
c.1051C>A (p.Pro351Thr)
c.580C>A (p.Pro194Thr)
n.2012C>A
n.2179C>A
c.1927C>A (p.Pro643Thr)
c.619C>A (p.Pro207Thr)
n.2229C>A
n.2202C>A
8g.141168333C>GCA372344177DENND3c.2083C>G (p.Pro695Ala)
c.1843C>G (p.Pro615Ala)
c.1687C>G (p.Pro563Ala)
c.1856C>G
n.1624C>G
c.1882C>G (p.Pro628Ala)
c.1726C>G (p.Pro576Ala)
c.1849C>G (p.Pro617Ala)
c.1339C>G (p.Pro447Ala)
c.1516C>G (p.Pro506Ala)
c.1510C>G (p.Pro504Ala)
c.1051C>G (p.Pro351Ala)
c.580C>G (p.Pro194Ala)
n.2012C>G
n.2179C>G
c.1927C>G (p.Pro643Ala)
c.619C>G (p.Pro207Ala)
n.2229C>G
n.2202C>G
8g.141168333C>TCA372344178DENND3c.2083C>T (p.Pro695Ser)
c.1843C>T (p.Pro615Ser)
c.1687C>T (p.Pro563Ser)
c.1856C>T
n.1624C>T
c.1882C>T (p.Pro628Ser)
c.1726C>T (p.Pro576Ser)
c.1849C>T (p.Pro617Ser)
c.1339C>T (p.Pro447Ser)
c.1516C>T (p.Pro506Ser)
c.1510C>T (p.Pro504Ser)
c.1051C>T (p.Pro351Ser)
c.580C>T (p.Pro194Ser)
n.2012C>T
n.2179C>T
c.1927C>T (p.Pro643Ser)
c.619C>T (p.Pro207Ser)
n.2229C>T
n.2202C>T
8g.141168334C>ACA372344179DENND3c.2084C>A (p.Pro695Gln)
c.1844C>A (p.Pro615Gln)
c.1688C>A (p.Pro563Gln)
c.1857C>A
n.1625C>A
c.1883C>A (p.Pro628Gln)
c.1727C>A (p.Pro576Gln)
c.1850C>A (p.Pro617Gln)
c.1340C>A (p.Pro447Gln)
c.1517C>A (p.Pro506Gln)
c.1511C>A (p.Pro504Gln)
c.1052C>A (p.Pro351Gln)
c.581C>A (p.Pro194Gln)
n.2013C>A
n.2180C>A
c.1928C>A (p.Pro643Gln)
c.620C>A (p.Pro207Gln)
n.2230C>A
n.2203C>A
8g.141168334C>GCA372344180DENND3c.2084C>G (p.Pro695Arg)
c.1844C>G (p.Pro615Arg)
c.1688C>G (p.Pro563Arg)
c.1857C>G
n.1625C>G
c.1883C>G (p.Pro628Arg)
c.1727C>G (p.Pro576Arg)
c.1850C>G (p.Pro617Arg)
c.1340C>G (p.Pro447Arg)
c.1517C>G (p.Pro506Arg)
c.1511C>G (p.Pro504Arg)
c.1052C>G (p.Pro351Arg)
c.581C>G (p.Pro194Arg)
n.2013C>G
n.2180C>G
c.1928C>G (p.Pro643Arg)
c.620C>G (p.Pro207Arg)
n.2230C>G
n.2203C>G
8g.141168334C>TCA4896802DENND3c.2084C>T (p.Pro695Leu)
c.1844C>T (p.Pro615Leu)
c.1688C>T (p.Pro563Leu)
c.1857C>T
n.1625C>T
c.1883C>T (p.Pro628Leu)
c.1727C>T (p.Pro576Leu)
c.1850C>T (p.Pro617Leu)
c.1340C>T (p.Pro447Leu)
c.1517C>T (p.Pro506Leu)
c.1511C>T (p.Pro504Leu)
c.1052C>T (p.Pro351Leu)
c.581C>T (p.Pro194Leu)
n.2013C>T
n.2180C>T
c.1928C>T (p.Pro643Leu)
c.620C>T (p.Pro207Leu)
n.2230C>T
n.2203C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168335G>ACA4896803DENND3c.2085G>A (p.Pro695=)
c.1845G>A (p.Pro615=)
c.1689G>A (p.Pro563=)
c.1858G>A
n.1626G>A
c.1884G>A (p.Pro628=)
c.1728G>A (p.Pro576=)
c.1851G>A (p.Pro617=)
c.1341G>A (p.Pro447=)
c.1518G>A (p.Pro506=)
c.1512G>A (p.Pro504=)
c.1053G>A (p.Pro351=)
c.582G>A (p.Pro194=)
n.2014G>A
n.2181G>A
c.1929G>A (p.Pro643=)
c.621G>A (p.Pro207=)
n.2231G>A
n.2204G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168335G>CCA463496949DENND3c.2085G>C (p.Pro695=)
c.1845G>C (p.Pro615=)
c.1689G>C (p.Pro563=)
c.1858G>C
n.1626G>C
c.1884G>C (p.Pro628=)
c.1728G>C (p.Pro576=)
c.1851G>C (p.Pro617=)
c.1341G>C (p.Pro447=)
c.1518G>C (p.Pro506=)
c.1512G>C (p.Pro504=)
c.1053G>C (p.Pro351=)
c.582G>C (p.Pro194=)
n.2014G>C
n.2181G>C
c.1929G>C (p.Pro643=)
c.621G>C (p.Pro207=)
n.2231G>C
n.2204G>C
8g.141168335G>TCA463496948DENND3c.2085G>T (p.Pro695=)
c.1845G>T (p.Pro615=)
c.1689G>T (p.Pro563=)
c.1858G>T
n.1626G>T
c.1884G>T (p.Pro628=)
c.1728G>T (p.Pro576=)
c.1851G>T (p.Pro617=)
c.1341G>T (p.Pro447=)
c.1518G>T (p.Pro506=)
c.1512G>T (p.Pro504=)
c.1053G>T (p.Pro351=)
c.582G>T (p.Pro194=)
n.2014G>T
n.2181G>T
c.1929G>T (p.Pro643=)
c.621G>T (p.Pro207=)
n.2231G>T
n.2204G>T
8g.141168336delCA2497242493DENND3c.2086del (p.Glu696SerfsTer2)
c.1846del (p.Glu616SerfsTer2)
c.1690del (p.Glu564SerfsTer2)
c.1859del
n.1627del
c.1885del (p.Glu629SerfsTer2)
c.1729del (p.Glu577SerfsTer2)
c.1852del (p.Glu618SerfsTer2)
c.1342del (p.Glu448SerfsTer2)
c.1519del (p.Glu507SerfsTer2)
c.1513del (p.Glu505SerfsTer2)
c.1054del (p.Glu352SerfsTer2)
c.583del (p.Glu195SerfsTer2)
n.2015del
n.2182del
c.1930del (p.Glu644SerfsTer2)
c.622del (p.Glu208SerfsTer2)
n.2232del
n.2205del
 dbSNP
8g.141168336G>ACA372344181DENND3c.2086G>A (p.Glu696Lys)
c.1846G>A (p.Glu616Lys)
c.1690G>A (p.Glu564Lys)
c.1859G>A
n.1627G>A
c.1885G>A (p.Glu629Lys)
c.1729G>A (p.Glu577Lys)
c.1852G>A (p.Glu618Lys)
c.1342G>A (p.Glu448Lys)
c.1519G>A (p.Glu507Lys)
c.1513G>A (p.Glu505Lys)
c.1054G>A (p.Glu352Lys)
c.583G>A (p.Glu195Lys)
n.2015G>A
n.2182G>A
c.1930G>A (p.Glu644Lys)
c.622G>A (p.Glu208Lys)
n.2232G>A
n.2205G>A
8g.141168336G>CCA372344182DENND3c.2086G>C (p.Glu696Gln)
c.1846G>C (p.Glu616Gln)
c.1690G>C (p.Glu564Gln)
c.1859G>C
n.1627G>C
c.1885G>C (p.Glu629Gln)
c.1729G>C (p.Glu577Gln)
c.1852G>C (p.Glu618Gln)
c.1342G>C (p.Glu448Gln)
c.1519G>C (p.Glu507Gln)
c.1513G>C (p.Glu505Gln)
c.1054G>C (p.Glu352Gln)
c.583G>C (p.Glu195Gln)
n.2015G>C
n.2182G>C
c.1930G>C (p.Glu644Gln)
c.622G>C (p.Glu208Gln)
n.2232G>C
n.2205G>C
8g.141168336G>TCA372344183DENND3c.2086G>T (p.Glu696Ter)
c.1846G>T (p.Glu616Ter)
c.1690G>T (p.Glu564Ter)
c.1859G>T
n.1627G>T
c.1885G>T (p.Glu629Ter)
c.1729G>T (p.Glu577Ter)
c.1852G>T (p.Glu618Ter)
c.1342G>T (p.Glu448Ter)
c.1519G>T (p.Glu507Ter)
c.1513G>T (p.Glu505Ter)
c.1054G>T (p.Glu352Ter)
c.583G>T (p.Glu195Ter)
n.2015G>T
n.2182G>T
c.1930G>T (p.Glu644Ter)
c.622G>T (p.Glu208Ter)
n.2232G>T
n.2205G>T
8g.141168337A>CCA372344186DENND3c.2087A>C (p.Glu696Ala)
c.1847A>C (p.Glu616Ala)
c.1691A>C (p.Glu564Ala)
c.1860A>C
n.1628A>C
c.1886A>C (p.Glu629Ala)
c.1730A>C (p.Glu577Ala)
c.1853A>C (p.Glu618Ala)
c.1343A>C (p.Glu448Ala)
c.1520A>C (p.Glu507Ala)
c.1514A>C (p.Glu505Ala)
c.1055A>C (p.Glu352Ala)
c.584A>C (p.Glu195Ala)
n.2016A>C
n.2183A>C
c.1931A>C (p.Glu644Ala)
c.623A>C (p.Glu208Ala)
n.2233A>C
n.2206A>C
8g.141168337A>GCA372344185DENND3c.2087A>G (p.Glu696Gly)
c.1847A>G (p.Glu616Gly)
c.1691A>G (p.Glu564Gly)
c.1860A>G
n.1628A>G
c.1886A>G (p.Glu629Gly)
c.1730A>G (p.Glu577Gly)
c.1853A>G (p.Glu618Gly)
c.1343A>G (p.Glu448Gly)
c.1520A>G (p.Glu507Gly)
c.1514A>G (p.Glu505Gly)
c.1055A>G (p.Glu352Gly)
c.584A>G (p.Glu195Gly)
n.2016A>G
n.2183A>G
c.1931A>G (p.Glu644Gly)
c.623A>G (p.Glu208Gly)
n.2233A>G
n.2206A>G
8g.141168337A>TCA372344184DENND3c.2087A>T (p.Glu696Val)
c.1847A>T (p.Glu616Val)
c.1691A>T (p.Glu564Val)
c.1860A>T
n.1628A>T
c.1886A>T (p.Glu629Val)
c.1730A>T (p.Glu577Val)
c.1853A>T (p.Glu618Val)
c.1343A>T (p.Glu448Val)
c.1520A>T (p.Glu507Val)
c.1514A>T (p.Glu505Val)
c.1055A>T (p.Glu352Val)
c.584A>T (p.Glu195Val)
n.2016A>T
n.2183A>T
c.1931A>T (p.Glu644Val)
c.623A>T (p.Glu208Val)
n.2233A>T
n.2206A>T
8g.141168338G>ACA463496950DENND3c.2088G>A (p.Glu696=)
c.1848G>A (p.Glu616=)
c.1692G>A (p.Glu564=)
c.1861G>A
n.1629G>A
c.1887G>A (p.Glu629=)
c.1731G>A (p.Glu577=)
c.1854G>A (p.Glu618=)
c.1344G>A (p.Glu448=)
c.1521G>A (p.Glu507=)
c.1515G>A (p.Glu505=)
c.1056G>A (p.Glu352=)
c.585G>A (p.Glu195=)
n.2017G>A
n.2184G>A
c.1932G>A (p.Glu644=)
c.624G>A (p.Glu208=)
n.2234G>A
n.2207G>A
8g.141168338G>CCA372344187DENND3c.2088G>C (p.Glu696Asp)
c.1848G>C (p.Glu616Asp)
c.1692G>C (p.Glu564Asp)
c.1861G>C
n.1629G>C
c.1887G>C (p.Glu629Asp)
c.1731G>C (p.Glu577Asp)
c.1854G>C (p.Glu618Asp)
c.1344G>C (p.Glu448Asp)
c.1521G>C (p.Glu507Asp)
c.1515G>C (p.Glu505Asp)
c.1056G>C (p.Glu352Asp)
c.585G>C (p.Glu195Asp)
n.2017G>C
n.2184G>C
c.1932G>C (p.Glu644Asp)
c.624G>C (p.Glu208Asp)
n.2234G>C
n.2207G>C
8g.141168338G>TCA372344188DENND3c.2088G>T (p.Glu696Asp)
c.1848G>T (p.Glu616Asp)
c.1692G>T (p.Glu564Asp)
c.1861G>T
n.1629G>T
c.1887G>T (p.Glu629Asp)
c.1731G>T (p.Glu577Asp)
c.1854G>T (p.Glu618Asp)
c.1344G>T (p.Glu448Asp)
c.1521G>T (p.Glu507Asp)
c.1515G>T (p.Glu505Asp)
c.1056G>T (p.Glu352Asp)
c.585G>T (p.Glu195Asp)
n.2017G>T
n.2184G>T
c.1932G>T (p.Glu644Asp)
c.624G>T (p.Glu208Asp)
n.2234G>T
n.2207G>T
8g.141168339C>ACA372344189DENND3c.2089C>A (p.Leu697Met)
c.1849C>A (p.Leu617Met)
c.1693C>A (p.Leu565Met)
c.1862C>A
n.1630C>A
c.1888C>A (p.Leu630Met)
c.1732C>A (p.Leu578Met)
c.1855C>A (p.Leu619Met)
c.1345C>A (p.Leu449Met)
c.1522C>A (p.Leu508Met)
c.1516C>A (p.Leu506Met)
c.1057C>A (p.Leu353Met)
c.586C>A (p.Leu196Met)
n.2018C>A
n.2185C>A
c.1933C>A (p.Leu645Met)
c.625C>A (p.Leu209Met)
n.2235C>A
n.2208C>A
8g.141168339C>GCA372344190DENND3c.2089C>G (p.Leu697Val)
c.1849C>G (p.Leu617Val)
c.1693C>G (p.Leu565Val)
c.1862C>G
n.1630C>G
c.1888C>G (p.Leu630Val)
c.1732C>G (p.Leu578Val)
c.1855C>G (p.Leu619Val)
c.1345C>G (p.Leu449Val)
c.1522C>G (p.Leu508Val)
c.1516C>G (p.Leu506Val)
c.1057C>G (p.Leu353Val)
c.586C>G (p.Leu196Val)
n.2018C>G
n.2185C>G
c.1933C>G (p.Leu645Val)
c.625C>G (p.Leu209Val)
n.2235C>G
n.2208C>G
 gnomAD v4
8g.141168339C>TCA463496951DENND3c.2089C>T (p.Leu697=)
c.1849C>T (p.Leu617=)
c.1693C>T (p.Leu565=)
c.1862C>T
n.1630C>T
c.1888C>T (p.Leu630=)
c.1732C>T (p.Leu578=)
c.1855C>T (p.Leu619=)
c.1345C>T (p.Leu449=)
c.1522C>T (p.Leu508=)
c.1516C>T (p.Leu506=)
c.1057C>T (p.Leu353=)
c.586C>T (p.Leu196=)
n.2018C>T
n.2185C>T
c.1933C>T (p.Leu645=)
c.625C>T (p.Leu209=)
n.2235C>T
n.2208C>T
8g.141168340T>ACA372344191DENND3c.2090T>A (p.Leu697Gln)
c.1850T>A (p.Leu617Gln)
c.1694T>A (p.Leu565Gln)
c.1863T>A
n.1631T>A
c.1889T>A (p.Leu630Gln)
c.1733T>A (p.Leu578Gln)
c.1856T>A (p.Leu619Gln)
c.1346T>A (p.Leu449Gln)
c.1523T>A (p.Leu508Gln)
c.1517T>A (p.Leu506Gln)
c.1058T>A (p.Leu353Gln)
c.587T>A (p.Leu196Gln)
n.2019T>A
n.2186T>A
c.1934T>A (p.Leu645Gln)
c.626T>A (p.Leu209Gln)
n.2236T>A
n.2209T>A
8g.141168340T>CCA372344192DENND3c.2090T>C (p.Leu697Pro)
c.1850T>C (p.Leu617Pro)
c.1694T>C (p.Leu565Pro)
c.1863T>C
n.1631T>C
c.1889T>C (p.Leu630Pro)
c.1733T>C (p.Leu578Pro)
c.1856T>C (p.Leu619Pro)
c.1346T>C (p.Leu449Pro)
c.1523T>C (p.Leu508Pro)
c.1517T>C (p.Leu506Pro)
c.1058T>C (p.Leu353Pro)
c.587T>C (p.Leu196Pro)
n.2019T>C
n.2186T>C
c.1934T>C (p.Leu645Pro)
c.626T>C (p.Leu209Pro)
n.2236T>C
n.2209T>C
8g.141168340T>GCA372344193DENND3c.2090T>G (p.Leu697Arg)
c.1850T>G (p.Leu617Arg)
c.1694T>G (p.Leu565Arg)
c.1863T>G
n.1631T>G
c.1889T>G (p.Leu630Arg)
c.1733T>G (p.Leu578Arg)
c.1856T>G (p.Leu619Arg)
c.1346T>G (p.Leu449Arg)
c.1523T>G (p.Leu508Arg)
c.1517T>G (p.Leu506Arg)
c.1058T>G (p.Leu353Arg)
c.587T>G (p.Leu196Arg)
n.2019T>G
n.2186T>G
c.1934T>G (p.Leu645Arg)
c.626T>G (p.Leu209Arg)
n.2236T>G
n.2209T>G
8g.141168341G>ACA463496952DENND3c.2091G>A (p.Leu697=)
c.1851G>A (p.Leu617=)
c.1695G>A (p.Leu565=)
c.1864G>A
n.1632G>A
c.1890G>A (p.Leu630=)
c.1734G>A (p.Leu578=)
c.1857G>A (p.Leu619=)
c.1347G>A (p.Leu449=)
c.1524G>A (p.Leu508=)
c.1518G>A (p.Leu506=)
c.1059G>A (p.Leu353=)
c.588G>A (p.Leu196=)
n.2020G>A
n.2187G>A
c.1935G>A (p.Leu645=)
c.627G>A (p.Leu209=)
n.2237G>A
n.2210G>A
8g.141168341G>CCA463496953DENND3c.2091G>C (p.Leu697=)
c.1851G>C (p.Leu617=)
c.1695G>C (p.Leu565=)
c.1864G>C
n.1632G>C
c.1890G>C (p.Leu630=)
c.1734G>C (p.Leu578=)
c.1857G>C (p.Leu619=)
c.1347G>C (p.Leu449=)
c.1524G>C (p.Leu508=)
c.1518G>C (p.Leu506=)
c.1059G>C (p.Leu353=)
c.588G>C (p.Leu196=)
n.2020G>C
n.2187G>C
c.1935G>C (p.Leu645=)
c.627G>C (p.Leu209=)
n.2237G>C
n.2210G>C
8g.141168341G>TCA463496954DENND3c.2091G>T (p.Leu697=)
c.1851G>T (p.Leu617=)
c.1695G>T (p.Leu565=)
c.1864G>T
n.1632G>T
c.1890G>T (p.Leu630=)
c.1734G>T (p.Leu578=)
c.1857G>T (p.Leu619=)
c.1347G>T (p.Leu449=)
c.1524G>T (p.Leu508=)
c.1518G>T (p.Leu506=)
c.1059G>T (p.Leu353=)
c.588G>T (p.Leu196=)
n.2020G>T
n.2187G>T
c.1935G>T (p.Leu645=)
c.627G>T (p.Leu209=)
n.2237G>T
n.2210G>T
8g.141168342A>CCA372344194DENND3c.2092A>C (p.Met698Leu)
c.1852A>C (p.Met618Leu)
c.1696A>C (p.Met566Leu)
c.1865A>C
n.1633A>C
c.1891A>C (p.Met631Leu)
c.1735A>C (p.Met579Leu)
c.1858A>C (p.Met620Leu)
c.1348A>C (p.Met450Leu)
c.1525A>C (p.Met509Leu)
c.1519A>C (p.Met507Leu)
c.1060A>C (p.Met354Leu)
c.589A>C (p.Met197Leu)
n.2021A>C
n.2188A>C
c.1936A>C (p.Met646Leu)
c.628A>C (p.Met210Leu)
n.2238A>C
n.2211A>C
8g.141168342A>GCA372344195DENND3c.2092A>G (p.Met698Val)
c.1852A>G (p.Met618Val)
c.1696A>G (p.Met566Val)
c.1865A>G
n.1633A>G
c.1891A>G (p.Met631Val)
c.1735A>G (p.Met579Val)
c.1858A>G (p.Met620Val)
c.1348A>G (p.Met450Val)
c.1525A>G (p.Met509Val)
c.1519A>G (p.Met507Val)
c.1060A>G (p.Met354Val)
c.589A>G (p.Met197Val)
n.2021A>G
n.2188A>G
c.1936A>G (p.Met646Val)
c.628A>G (p.Met210Val)
n.2238A>G
n.2211A>G
 dbSNP gnomAD v2 gnomAD v4
8g.141168342A>TCA372344196DENND3c.2092A>T (p.Met698Leu)
c.1852A>T (p.Met618Leu)
c.1696A>T (p.Met566Leu)
c.1865A>T
n.1633A>T
c.1891A>T (p.Met631Leu)
c.1735A>T (p.Met579Leu)
c.1858A>T (p.Met620Leu)
c.1348A>T (p.Met450Leu)
c.1525A>T (p.Met509Leu)
c.1519A>T (p.Met507Leu)
c.1060A>T (p.Met354Leu)
c.589A>T (p.Met197Leu)
n.2021A>T
n.2188A>T
c.1936A>T (p.Met646Leu)
c.628A>T (p.Met210Leu)
n.2238A>T
n.2211A>T
8g.141168343T>ACA372344197DENND3c.2093T>A (p.Met698Lys)
c.1853T>A (p.Met618Lys)
c.1697T>A (p.Met566Lys)
c.1866T>A
n.1634T>A
c.1892T>A (p.Met631Lys)
c.1736T>A (p.Met579Lys)
c.1859T>A (p.Met620Lys)
c.1349T>A (p.Met450Lys)
c.1526T>A (p.Met509Lys)
c.1520T>A (p.Met507Lys)
c.1061T>A (p.Met354Lys)
c.590T>A (p.Met197Lys)
n.2022T>A
n.2189T>A
c.1937T>A (p.Met646Lys)
c.629T>A (p.Met210Lys)
n.2239T>A
n.2212T>A
8g.141168343T>CCA372344198DENND3c.2093T>C (p.Met698Thr)
c.1853T>C (p.Met618Thr)
c.1697T>C (p.Met566Thr)
c.1866T>C
n.1634T>C
c.1892T>C (p.Met631Thr)
c.1736T>C (p.Met579Thr)
c.1859T>C (p.Met620Thr)
c.1349T>C (p.Met450Thr)
c.1526T>C (p.Met509Thr)
c.1520T>C (p.Met507Thr)
c.1061T>C (p.Met354Thr)
c.590T>C (p.Met197Thr)
n.2022T>C
n.2189T>C
c.1937T>C (p.Met646Thr)
c.629T>C (p.Met210Thr)
n.2239T>C
n.2212T>C
8g.141168343T>GCA372344199DENND3c.2093T>G (p.Met698Arg)
c.1853T>G (p.Met618Arg)
c.1697T>G (p.Met566Arg)
c.1866T>G
n.1634T>G
c.1892T>G (p.Met631Arg)
c.1736T>G (p.Met579Arg)
c.1859T>G (p.Met620Arg)
c.1349T>G (p.Met450Arg)
c.1526T>G (p.Met509Arg)
c.1520T>G (p.Met507Arg)
c.1061T>G (p.Met354Arg)
c.590T>G (p.Met197Arg)
n.2022T>G
n.2189T>G
c.1937T>G (p.Met646Arg)
c.629T>G (p.Met210Arg)
n.2239T>G
n.2212T>G
8g.141168344G>ACA372344201DENND3c.2094G>A (p.Met698Ile)
c.1854G>A (p.Met618Ile)
c.1698G>A (p.Met566Ile)
c.1867G>A
n.1635G>A
c.1893G>A (p.Met631Ile)
c.1737G>A (p.Met579Ile)
c.1860G>A (p.Met620Ile)
c.1350G>A (p.Met450Ile)
c.1527G>A (p.Met509Ile)
c.1521G>A (p.Met507Ile)
c.1062G>A (p.Met354Ile)
c.591G>A (p.Met197Ile)
n.2023G>A
n.2190G>A
c.1938G>A (p.Met646Ile)
c.630G>A (p.Met210Ile)
n.2240G>A
n.2213G>A
 gnomAD v4
8g.141168344G>CCA372344202DENND3c.2094G>C (p.Met698Ile)
c.1854G>C (p.Met618Ile)
c.1698G>C (p.Met566Ile)
c.1867G>C
n.1635G>C
c.1893G>C (p.Met631Ile)
c.1737G>C (p.Met579Ile)
c.1860G>C (p.Met620Ile)
c.1350G>C (p.Met450Ile)
c.1527G>C (p.Met509Ile)
c.1521G>C (p.Met507Ile)
c.1062G>C (p.Met354Ile)
c.591G>C (p.Met197Ile)
n.2023G>C
n.2190G>C
c.1938G>C (p.Met646Ile)
c.630G>C (p.Met210Ile)
n.2240G>C
n.2213G>C
8g.141168344G>TCA372344200DENND3c.2094G>T (p.Met698Ile)
c.1854G>T (p.Met618Ile)
c.1698G>T (p.Met566Ile)
c.1867G>T
n.1635G>T
c.1893G>T (p.Met631Ile)
c.1737G>T (p.Met579Ile)
c.1860G>T (p.Met620Ile)
c.1350G>T (p.Met450Ile)
c.1527G>T (p.Met509Ile)
c.1521G>T (p.Met507Ile)
c.1062G>T (p.Met354Ile)
c.591G>T (p.Met197Ile)
n.2023G>T
n.2190G>T
c.1938G>T (p.Met646Ile)
c.630G>T (p.Met210Ile)
n.2240G>T
n.2213G>T
8g.141168347_141168359delCA2782479400DENND3c.2097_2109del (p.Leu700SerfsTer15)
c.1857_1869del (p.Leu620SerfsTer15)
c.1701_1713del (p.Leu568SerfsTer15)
c.1870_1882del
n.1638_1650del
c.1896_1908del (p.Leu633SerfsTer15)
c.1740_1752del (p.Leu581SerfsTer15)
c.1863_1875del (p.Leu622SerfsTer15)
c.1353_1365del (p.Leu452SerfsTer15)
c.1530_1542del (p.Leu511SerfsTer15)
c.1524_1536del (p.Leu509SerfsTer15)
c.1065_1077del (p.Leu356SerfsTer15)
c.594_606del (p.Leu199SerfsTer15)
n.2026_2038del
n.2193_2205del
c.1941_1953del (p.Leu648SerfsTer15)
c.633_645del (p.Leu212SerfsTer15)
n.2243_2255del
n.2216_2228del
8g.141168345A>CCA463496955DENND3c.2095A>C (p.Arg699=)
c.1855A>C (p.Arg619=)
c.1699A>C (p.Arg567=)
c.1868A>C
n.1636A>C
c.1894A>C (p.Arg632=)
c.1738A>C (p.Arg580=)
c.1861A>C (p.Arg621=)
c.1351A>C (p.Arg451=)
c.1528A>C (p.Arg510=)
c.1522A>C (p.Arg508=)
c.1063A>C (p.Arg355=)
c.592A>C (p.Arg198=)
n.2024A>C
n.2191A>C
c.1939A>C (p.Arg647=)
c.631A>C (p.Arg211=)
n.2241A>C
n.2214A>C
8g.141168345A>GCA372344203DENND3c.2095A>G (p.Arg699Gly)
c.1855A>G (p.Arg619Gly)
c.1699A>G (p.Arg567Gly)
c.1868A>G
n.1636A>G
c.1894A>G (p.Arg632Gly)
c.1738A>G (p.Arg580Gly)
c.1861A>G (p.Arg621Gly)
c.1351A>G (p.Arg451Gly)
c.1528A>G (p.Arg510Gly)
c.1522A>G (p.Arg508Gly)
c.1063A>G (p.Arg355Gly)
c.592A>G (p.Arg198Gly)
n.2024A>G
n.2191A>G
c.1939A>G (p.Arg647Gly)
c.631A>G (p.Arg211Gly)
n.2241A>G
n.2214A>G
8g.141168345A>TCA372344204DENND3c.2095A>T (p.Arg699Trp)
c.1855A>T (p.Arg619Trp)
c.1699A>T (p.Arg567Trp)
c.1868A>T
n.1636A>T
c.1894A>T (p.Arg632Trp)
c.1738A>T (p.Arg580Trp)
c.1861A>T (p.Arg621Trp)
c.1351A>T (p.Arg451Trp)
c.1528A>T (p.Arg510Trp)
c.1522A>T (p.Arg508Trp)
c.1063A>T (p.Arg355Trp)
c.592A>T (p.Arg198Trp)
n.2024A>T
n.2191A>T
c.1939A>T (p.Arg647Trp)
c.631A>T (p.Arg211Trp)
n.2241A>T
n.2214A>T
8g.141168346G>ACA4896804DENND3c.2096G>A (p.Arg699Lys)
c.1856G>A (p.Arg619Lys)
c.1700G>A (p.Arg567Lys)
c.1869G>A
n.1637G>A
c.1895G>A (p.Arg632Lys)
c.1739G>A (p.Arg580Lys)
c.1862G>A (p.Arg621Lys)
c.1352G>A (p.Arg451Lys)
c.1529G>A (p.Arg510Lys)
c.1523G>A (p.Arg508Lys)
c.1064G>A (p.Arg355Lys)
c.593G>A (p.Arg198Lys)
n.2025G>A
n.2192G>A
c.1940G>A (p.Arg647Lys)
c.632G>A (p.Arg211Lys)
n.2242G>A
n.2215G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168346G>CCA372344205DENND3c.2096G>C (p.Arg699Thr)
c.1856G>C (p.Arg619Thr)
c.1700G>C (p.Arg567Thr)
c.1869G>C
n.1637G>C
c.1895G>C (p.Arg632Thr)
c.1739G>C (p.Arg580Thr)
c.1862G>C (p.Arg621Thr)
c.1352G>C (p.Arg451Thr)
c.1529G>C (p.Arg510Thr)
c.1523G>C (p.Arg508Thr)
c.1064G>C (p.Arg355Thr)
c.593G>C (p.Arg198Thr)
n.2025G>C
n.2192G>C
c.1940G>C (p.Arg647Thr)
c.632G>C (p.Arg211Thr)
n.2242G>C
n.2215G>C
8g.141168346G>TCA372344206DENND3c.2096G>T (p.Arg699Met)
c.1856G>T (p.Arg619Met)
c.1700G>T (p.Arg567Met)
c.1869G>T
n.1637G>T
c.1895G>T (p.Arg632Met)
c.1739G>T (p.Arg580Met)
c.1862G>T (p.Arg621Met)
c.1352G>T (p.Arg451Met)
c.1529G>T (p.Arg510Met)
c.1523G>T (p.Arg508Met)
c.1064G>T (p.Arg355Met)
c.593G>T (p.Arg198Met)
n.2025G>T
n.2192G>T
c.1940G>T (p.Arg647Met)
c.632G>T (p.Arg211Met)
n.2242G>T
n.2215G>T
 dbSNP gnomAD v3 gnomAD v4
8g.141168347G>ACA463496956DENND3c.2097G>A (p.Arg699=)
c.1857G>A (p.Arg619=)
c.1701G>A (p.Arg567=)
c.1870G>A
n.1638G>A
c.1896G>A (p.Arg632=)
c.1740G>A (p.Arg580=)
c.1863G>A (p.Arg621=)
c.1353G>A (p.Arg451=)
c.1530G>A (p.Arg510=)
c.1524G>A (p.Arg508=)
c.1065G>A (p.Arg355=)
c.594G>A (p.Arg198=)
n.2026G>A
n.2193G>A
c.1941G>A (p.Arg647=)
c.633G>A (p.Arg211=)
n.2243G>A
n.2216G>A
8g.141168347G>CCA372344207DENND3c.2097G>C (p.Arg699Ser)
c.1857G>C (p.Arg619Ser)
c.1701G>C (p.Arg567Ser)
c.1870G>C
n.1638G>C
c.1896G>C (p.Arg632Ser)
c.1740G>C (p.Arg580Ser)
c.1863G>C (p.Arg621Ser)
c.1353G>C (p.Arg451Ser)
c.1530G>C (p.Arg510Ser)
c.1524G>C (p.Arg508Ser)
c.1065G>C (p.Arg355Ser)
c.594G>C (p.Arg198Ser)
n.2026G>C
n.2193G>C
c.1941G>C (p.Arg647Ser)
c.633G>C (p.Arg211Ser)
n.2243G>C
n.2216G>C
 gnomAD v4
8g.141168347G>TCA372344208DENND3c.2097G>T (p.Arg699Ser)
c.1857G>T (p.Arg619Ser)
c.1701G>T (p.Arg567Ser)
c.1870G>T
n.1638G>T
c.1896G>T (p.Arg632Ser)
c.1740G>T (p.Arg580Ser)
c.1863G>T (p.Arg621Ser)
c.1353G>T (p.Arg451Ser)
c.1530G>T (p.Arg510Ser)
c.1524G>T (p.Arg508Ser)
c.1065G>T (p.Arg355Ser)
c.594G>T (p.Arg198Ser)
n.2026G>T
n.2193G>T
c.1941G>T (p.Arg647Ser)
c.633G>T (p.Arg211Ser)
n.2243G>T
n.2216G>T
8g.141168348C>ACA4896805DENND3c.2098C>A (p.Leu700Ile)
c.1858C>A (p.Leu620Ile)
c.1702C>A (p.Leu568Ile)
c.1871C>A
n.1639C>A
c.1897C>A (p.Leu633Ile)
c.1741C>A (p.Leu581Ile)
c.1864C>A (p.Leu622Ile)
c.1354C>A (p.Leu452Ile)
c.1531C>A (p.Leu511Ile)
c.1525C>A (p.Leu509Ile)
c.1066C>A (p.Leu356Ile)
c.595C>A (p.Leu199Ile)
n.2027C>A
n.2194C>A
c.1942C>A (p.Leu648Ile)
c.634C>A (p.Leu212Ile)
n.2244C>A
n.2217C>A
 dbSNP ExAC gnomAD v2
8g.141168348C>GCA372344209DENND3c.2098C>G (p.Leu700Val)
c.1858C>G (p.Leu620Val)
c.1702C>G (p.Leu568Val)
c.1871C>G
n.1639C>G
c.1897C>G (p.Leu633Val)
c.1741C>G (p.Leu581Val)
c.1864C>G (p.Leu622Val)
c.1354C>G (p.Leu452Val)
c.1531C>G (p.Leu511Val)
c.1525C>G (p.Leu509Val)
c.1066C>G (p.Leu356Val)
c.595C>G (p.Leu199Val)
n.2027C>G
n.2194C>G
c.1942C>G (p.Leu648Val)
c.634C>G (p.Leu212Val)
n.2244C>G
n.2217C>G
 dbSNP
8g.141168348C>TCA187325774DENND3c.2098C>T (p.Leu700Phe)
c.1858C>T (p.Leu620Phe)
c.1702C>T (p.Leu568Phe)
c.1871C>T
n.1639C>T
c.1897C>T (p.Leu633Phe)
c.1741C>T (p.Leu581Phe)
c.1864C>T (p.Leu622Phe)
c.1354C>T (p.Leu452Phe)
c.1531C>T (p.Leu511Phe)
c.1525C>T (p.Leu509Phe)
c.1066C>T (p.Leu356Phe)
c.595C>T (p.Leu199Phe)
n.2027C>T
n.2194C>T
c.1942C>T (p.Leu648Phe)
c.634C>T (p.Leu212Phe)
n.2244C>T
n.2217C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.141168349T>ACA372344210DENND3c.2099T>A (p.Leu700His)
c.1859T>A (p.Leu620His)
c.1703T>A (p.Leu568His)
c.1872T>A
n.1640T>A
c.1898T>A (p.Leu633His)
c.1742T>A (p.Leu581His)
c.1865T>A (p.Leu622His)
c.1355T>A (p.Leu452His)
c.1532T>A (p.Leu511His)
c.1526T>A (p.Leu509His)
c.1067T>A (p.Leu356His)
c.596T>A (p.Leu199His)
n.2028T>A
n.2195T>A
c.1943T>A (p.Leu648His)
c.635T>A (p.Leu212His)
n.2245T>A
n.2218T>A
8g.141168349T>CCA372344211DENND3c.2099T>C (p.Leu700Pro)
c.1859T>C (p.Leu620Pro)
c.1703T>C (p.Leu568Pro)
c.1872T>C
n.1640T>C
c.1898T>C (p.Leu633Pro)
c.1742T>C (p.Leu581Pro)
c.1865T>C (p.Leu622Pro)
c.1355T>C (p.Leu452Pro)
c.1532T>C (p.Leu511Pro)
c.1526T>C (p.Leu509Pro)
c.1067T>C (p.Leu356Pro)
c.596T>C (p.Leu199Pro)
n.2028T>C
n.2195T>C
c.1943T>C (p.Leu648Pro)
c.635T>C (p.Leu212Pro)
n.2245T>C
n.2218T>C
8g.141168349T>GCA372344212DENND3c.2099T>G (p.Leu700Arg)
c.1859T>G (p.Leu620Arg)
c.1703T>G (p.Leu568Arg)
c.1872T>G
n.1640T>G
c.1898T>G (p.Leu633Arg)
c.1742T>G (p.Leu581Arg)
c.1865T>G (p.Leu622Arg)
c.1355T>G (p.Leu452Arg)
c.1532T>G (p.Leu511Arg)
c.1526T>G (p.Leu509Arg)
c.1067T>G (p.Leu356Arg)
c.596T>G (p.Leu199Arg)
n.2028T>G
n.2195T>G
c.1943T>G (p.Leu648Arg)
c.635T>G (p.Leu212Arg)
n.2245T>G
n.2218T>G
8g.141168350C>ACA463496957DENND3c.2100C>A (p.Leu700=)
c.1860C>A (p.Leu620=)
c.1704C>A (p.Leu568=)
c.1873C>A
n.1641C>A
c.1899C>A (p.Leu633=)
c.1743C>A (p.Leu581=)
c.1866C>A (p.Leu622=)
c.1356C>A (p.Leu452=)
c.1533C>A (p.Leu511=)
c.1527C>A (p.Leu509=)
c.1068C>A (p.Leu356=)
c.597C>A (p.Leu199=)
n.2029C>A
n.2196C>A
c.1944C>A (p.Leu648=)
c.636C>A (p.Leu212=)
n.2246C>A
n.2219C>A
8g.141168350C>GCA463496958DENND3c.2100C>G (p.Leu700=)
c.1860C>G (p.Leu620=)
c.1704C>G (p.Leu568=)
c.1873C>G
n.1641C>G
c.1899C>G (p.Leu633=)
c.1743C>G (p.Leu581=)
c.1866C>G (p.Leu622=)
c.1356C>G (p.Leu452=)
c.1533C>G (p.Leu511=)
c.1527C>G (p.Leu509=)
c.1068C>G (p.Leu356=)
c.597C>G (p.Leu199=)
n.2029C>G
n.2196C>G
c.1944C>G (p.Leu648=)
c.636C>G (p.Leu212=)
n.2246C>G
n.2219C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168350C>TCA463496959DENND3c.2100C>T (p.Leu700=)
c.1860C>T (p.Leu620=)
c.1704C>T (p.Leu568=)
c.1873C>T
n.1641C>T
c.1899C>T (p.Leu633=)
c.1743C>T (p.Leu581=)
c.1866C>T (p.Leu622=)
c.1356C>T (p.Leu452=)
c.1533C>T (p.Leu511=)
c.1527C>T (p.Leu509=)
c.1068C>T (p.Leu356=)
c.597C>T (p.Leu199=)
n.2029C>T
n.2196C>T
c.1944C>T (p.Leu648=)
c.636C>T (p.Leu212=)
n.2246C>T
n.2219C>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168351A>CCA372344215DENND3c.2101A>C (p.Ile701Leu)
c.1861A>C (p.Ile621Leu)
c.1705A>C (p.Ile569Leu)
c.1874A>C
n.1642A>C
c.1900A>C (p.Ile634Leu)
c.1744A>C (p.Ile582Leu)
c.1867A>C (p.Ile623Leu)
c.1357A>C (p.Ile453Leu)
c.1534A>C (p.Ile512Leu)
c.1528A>C (p.Ile510Leu)
c.1069A>C (p.Ile357Leu)
c.598A>C (p.Ile200Leu)
n.2030A>C
n.2197A>C
c.1945A>C (p.Ile649Leu)
c.637A>C (p.Ile213Leu)
n.2247A>C
n.2220A>C
8g.141168351A>GCA372344214DENND3c.2101A>G (p.Ile701Val)
c.1861A>G (p.Ile621Val)
c.1705A>G (p.Ile569Val)
c.1874A>G
n.1642A>G
c.1900A>G (p.Ile634Val)
c.1744A>G (p.Ile582Val)
c.1867A>G (p.Ile623Val)
c.1357A>G (p.Ile453Val)
c.1534A>G (p.Ile512Val)
c.1528A>G (p.Ile510Val)
c.1069A>G (p.Ile357Val)
c.598A>G (p.Ile200Val)
n.2030A>G
n.2197A>G
c.1945A>G (p.Ile649Val)
c.637A>G (p.Ile213Val)
n.2247A>G
n.2220A>G
8g.141168351A>TCA372344213DENND3c.2101A>T (p.Ile701Phe)
c.1861A>T (p.Ile621Phe)
c.1705A>T (p.Ile569Phe)
c.1874A>T
n.1642A>T
c.1900A>T (p.Ile634Phe)
c.1744A>T (p.Ile582Phe)
c.1867A>T (p.Ile623Phe)
c.1357A>T (p.Ile453Phe)
c.1534A>T (p.Ile512Phe)
c.1528A>T (p.Ile510Phe)
c.1069A>T (p.Ile357Phe)
c.598A>T (p.Ile200Phe)
n.2030A>T
n.2197A>T
c.1945A>T (p.Ile649Phe)
c.637A>T (p.Ile213Phe)
n.2247A>T
n.2220A>T
 gnomAD v4
8g.141168352T>ACA372344216DENND3c.2102T>A (p.Ile701Asn)
c.1862T>A (p.Ile621Asn)
c.1706T>A (p.Ile569Asn)
c.1875T>A
n.1643T>A
c.1901T>A (p.Ile634Asn)
c.1745T>A (p.Ile582Asn)
c.1868T>A (p.Ile623Asn)
c.1358T>A (p.Ile453Asn)
c.1535T>A (p.Ile512Asn)
c.1529T>A (p.Ile510Asn)
c.1070T>A (p.Ile357Asn)
c.599T>A (p.Ile200Asn)
n.2031T>A
n.2198T>A
c.1946T>A (p.Ile649Asn)
c.638T>A (p.Ile213Asn)
n.2248T>A
n.2221T>A
8g.141168352T>CCA372344217DENND3c.2102T>C (p.Ile701Thr)
c.1862T>C (p.Ile621Thr)
c.1706T>C (p.Ile569Thr)
c.1875T>C
n.1643T>C
c.1901T>C (p.Ile634Thr)
c.1745T>C (p.Ile582Thr)
c.1868T>C (p.Ile623Thr)
c.1358T>C (p.Ile453Thr)
c.1535T>C (p.Ile512Thr)
c.1529T>C (p.Ile510Thr)
c.1070T>C (p.Ile357Thr)
c.599T>C (p.Ile200Thr)
n.2031T>C
n.2198T>C
c.1946T>C (p.Ile649Thr)
c.638T>C (p.Ile213Thr)
n.2248T>C
n.2221T>C
8g.141168352T>GCA372344218DENND3c.2102T>G (p.Ile701Ser)
c.1862T>G (p.Ile621Ser)
c.1706T>G (p.Ile569Ser)
c.1875T>G
n.1643T>G
c.1901T>G (p.Ile634Ser)
c.1745T>G (p.Ile582Ser)
c.1868T>G (p.Ile623Ser)
c.1358T>G (p.Ile453Ser)
c.1535T>G (p.Ile512Ser)
c.1529T>G (p.Ile510Ser)
c.1070T>G (p.Ile357Ser)
c.599T>G (p.Ile200Ser)
n.2031T>G
n.2198T>G
c.1946T>G (p.Ile649Ser)
c.638T>G (p.Ile213Ser)
n.2248T>G
n.2221T>G
8g.141168353C>ACA463496960DENND3c.2103C>A (p.Ile701=)
c.1863C>A (p.Ile621=)
c.1707C>A (p.Ile569=)
c.1876C>A
n.1644C>A
c.1902C>A (p.Ile634=)
c.1746C>A (p.Ile582=)
c.1869C>A (p.Ile623=)
c.1359C>A (p.Ile453=)
c.1536C>A (p.Ile512=)
c.1530C>A (p.Ile510=)
c.1071C>A (p.Ile357=)
c.600C>A (p.Ile200=)
n.2032C>A
n.2199C>A
c.1947C>A (p.Ile649=)
c.639C>A (p.Ile213=)
n.2249C>A
n.2222C>A
8g.141168353C>GCA372344219DENND3c.2103C>G (p.Ile701Met)
c.1863C>G (p.Ile621Met)
c.1707C>G (p.Ile569Met)
c.1876C>G
n.1644C>G
c.1902C>G (p.Ile634Met)
c.1746C>G (p.Ile582Met)
c.1869C>G (p.Ile623Met)
c.1359C>G (p.Ile453Met)
c.1536C>G (p.Ile512Met)
c.1530C>G (p.Ile510Met)
c.1071C>G (p.Ile357Met)
c.600C>G (p.Ile200Met)
n.2032C>G
n.2199C>G
c.1947C>G (p.Ile649Met)
c.639C>G (p.Ile213Met)
n.2249C>G
n.2222C>G
8g.141168353C>TCA463496961DENND3c.2103C>T (p.Ile701=)
c.1863C>T (p.Ile621=)
c.1707C>T (p.Ile569=)
c.1876C>T
n.1644C>T
c.1902C>T (p.Ile634=)
c.1746C>T (p.Ile582=)
c.1869C>T (p.Ile623=)
c.1359C>T (p.Ile453=)
c.1536C>T (p.Ile512=)
c.1530C>T (p.Ile510=)
c.1071C>T (p.Ile357=)
c.600C>T (p.Ile200=)
n.2032C>T
n.2199C>T
c.1947C>T (p.Ile649=)
c.639C>T (p.Ile213=)
n.2249C>T
n.2222C>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168354A>CCA372344220DENND3c.2104A>C (p.Ser702Arg)
c.1864A>C (p.Ser622Arg)
c.1708A>C (p.Ser570Arg)
c.1877A>C
n.1645A>C
c.1903A>C (p.Ser635Arg)
c.1747A>C (p.Ser583Arg)
c.1870A>C (p.Ser624Arg)
c.1360A>C (p.Ser454Arg)
c.1537A>C (p.Ser513Arg)
c.1531A>C (p.Ser511Arg)
c.1072A>C (p.Ser358Arg)
c.601A>C (p.Ser201Arg)
n.2033A>C
n.2200A>C
c.1948A>C (p.Ser650Arg)
c.640A>C (p.Ser214Arg)
n.2250A>C
n.2223A>C
8g.141168354A>GCA372344221DENND3c.2104A>G (p.Ser702Gly)
c.1864A>G (p.Ser622Gly)
c.1708A>G (p.Ser570Gly)
c.1877A>G
n.1645A>G
c.1903A>G (p.Ser635Gly)
c.1747A>G (p.Ser583Gly)
c.1870A>G (p.Ser624Gly)
c.1360A>G (p.Ser454Gly)
c.1537A>G (p.Ser513Gly)
c.1531A>G (p.Ser511Gly)
c.1072A>G (p.Ser358Gly)
c.601A>G (p.Ser201Gly)
n.2033A>G
n.2200A>G
c.1948A>G (p.Ser650Gly)
c.640A>G (p.Ser214Gly)
n.2250A>G
n.2223A>G
8g.141168354A>TCA372344222DENND3c.2104A>T (p.Ser702Cys)
c.1864A>T (p.Ser622Cys)
c.1708A>T (p.Ser570Cys)
c.1877A>T
n.1645A>T
c.1903A>T (p.Ser635Cys)
c.1747A>T (p.Ser583Cys)
c.1870A>T (p.Ser624Cys)
c.1360A>T (p.Ser454Cys)
c.1537A>T (p.Ser513Cys)
c.1531A>T (p.Ser511Cys)
c.1072A>T (p.Ser358Cys)
c.601A>T (p.Ser201Cys)
n.2033A>T
n.2200A>T
c.1948A>T (p.Ser650Cys)
c.640A>T (p.Ser214Cys)
n.2250A>T
n.2223A>T
8g.141168355G>ACA372344223DENND3c.2105G>A (p.Ser702Asn)
c.1865G>A (p.Ser622Asn)
c.1709G>A (p.Ser570Asn)
c.1878G>A
n.1646G>A
c.1904G>A (p.Ser635Asn)
c.1748G>A (p.Ser583Asn)
c.1871G>A (p.Ser624Asn)
c.1361G>A (p.Ser454Asn)
c.1538G>A (p.Ser513Asn)
c.1532G>A (p.Ser511Asn)
c.1073G>A (p.Ser358Asn)
c.602G>A (p.Ser201Asn)
n.2034G>A
n.2201G>A
c.1949G>A (p.Ser650Asn)
c.641G>A (p.Ser214Asn)
n.2251G>A
n.2224G>A
8g.141168355G>CCA372344224DENND3c.2105G>C (p.Ser702Thr)
c.1865G>C (p.Ser622Thr)
c.1709G>C (p.Ser570Thr)
c.1878G>C
n.1646G>C
c.1904G>C (p.Ser635Thr)
c.1748G>C (p.Ser583Thr)
c.1871G>C (p.Ser624Thr)
c.1361G>C (p.Ser454Thr)
c.1538G>C (p.Ser513Thr)
c.1532G>C (p.Ser511Thr)
c.1073G>C (p.Ser358Thr)
c.602G>C (p.Ser201Thr)
n.2034G>C
n.2201G>C
c.1949G>C (p.Ser650Thr)
c.641G>C (p.Ser214Thr)
n.2251G>C
n.2224G>C
8g.141168355G>TCA372344225DENND3c.2105G>T (p.Ser702Ile)
c.1865G>T (p.Ser622Ile)
c.1709G>T (p.Ser570Ile)
c.1878G>T
n.1646G>T
c.1904G>T (p.Ser635Ile)
c.1748G>T (p.Ser583Ile)
c.1871G>T (p.Ser624Ile)
c.1361G>T (p.Ser454Ile)
c.1538G>T (p.Ser513Ile)
c.1532G>T (p.Ser511Ile)
c.1073G>T (p.Ser358Ile)
c.602G>T (p.Ser201Ile)
n.2034G>T
n.2201G>T
c.1949G>T (p.Ser650Ile)
c.641G>T (p.Ser214Ile)
n.2251G>T
n.2224G>T
8g.141168356C>ACA372344226DENND3c.2106C>A (p.Ser702Arg)
c.1866C>A (p.Ser622Arg)
c.1710C>A (p.Ser570Arg)
c.1879C>A
n.1647C>A
c.1905C>A (p.Ser635Arg)
c.1749C>A (p.Ser583Arg)
c.1872C>A (p.Ser624Arg)
c.1362C>A (p.Ser454Arg)
c.1539C>A (p.Ser513Arg)
c.1533C>A (p.Ser511Arg)
c.1074C>A (p.Ser358Arg)
c.603C>A (p.Ser201Arg)
n.2035C>A
n.2202C>A
c.1950C>A (p.Ser650Arg)
c.642C>A (p.Ser214Arg)
n.2252C>A
n.2225C>A
8g.141168356C>GCA372344227DENND3c.2106C>G (p.Ser702Arg)
c.1866C>G (p.Ser622Arg)
c.1710C>G (p.Ser570Arg)
c.1879C>G
n.1647C>G
c.1905C>G (p.Ser635Arg)
c.1749C>G (p.Ser583Arg)
c.1872C>G (p.Ser624Arg)
c.1362C>G (p.Ser454Arg)
c.1539C>G (p.Ser513Arg)
c.1533C>G (p.Ser511Arg)
c.1074C>G (p.Ser358Arg)
c.603C>G (p.Ser201Arg)
n.2035C>G
n.2202C>G
c.1950C>G (p.Ser650Arg)
c.642C>G (p.Ser214Arg)
n.2252C>G
n.2225C>G
8g.141168356C>TCA4896806DENND3c.2106C>T (p.Ser702=)
c.1866C>T (p.Ser622=)
c.1710C>T (p.Ser570=)
c.1879C>T
n.1647C>T
c.1905C>T (p.Ser635=)
c.1749C>T (p.Ser583=)
c.1872C>T (p.Ser624=)
c.1362C>T (p.Ser454=)
c.1539C>T (p.Ser513=)
c.1533C>T (p.Ser511=)
c.1074C>T (p.Ser358=)
c.603C>T (p.Ser201=)
n.2035C>T
n.2202C>T
c.1950C>T (p.Ser650=)
c.642C>T (p.Ser214=)
n.2252C>T
n.2225C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168357G>ACA372344229DENND3c.2107G>A (p.Glu703Lys)
c.1867G>A (p.Glu623Lys)
c.1711G>A (p.Glu571Lys)
c.1880G>A
n.1648G>A
c.1906G>A (p.Glu636Lys)
c.1750G>A (p.Glu584Lys)
c.1873G>A (p.Glu625Lys)
c.1363G>A (p.Glu455Lys)
c.1540G>A (p.Glu514Lys)
c.1534G>A (p.Glu512Lys)
c.1075G>A (p.Glu359Lys)
c.604G>A (p.Glu202Lys)
n.2036G>A
n.2203G>A
c.1951G>A (p.Glu651Lys)
c.643G>A (p.Glu215Lys)
n.2253G>A
n.2226G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168357G>CCA372344230DENND3c.2107G>C (p.Glu703Gln)
c.1867G>C (p.Glu623Gln)
c.1711G>C (p.Glu571Gln)
c.1880G>C
n.1648G>C
c.1906G>C (p.Glu636Gln)
c.1750G>C (p.Glu584Gln)
c.1873G>C (p.Glu625Gln)
c.1363G>C (p.Glu455Gln)
c.1540G>C (p.Glu514Gln)
c.1534G>C (p.Glu512Gln)
c.1075G>C (p.Glu359Gln)
c.604G>C (p.Glu202Gln)
n.2036G>C
n.2203G>C
c.1951G>C (p.Glu651Gln)
c.643G>C (p.Glu215Gln)
n.2253G>C
n.2226G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168357G>TCA372344228DENND3c.2107G>T (p.Glu703Ter)
c.1867G>T (p.Glu623Ter)
c.1711G>T (p.Glu571Ter)
c.1880G>T
n.1648G>T
c.1906G>T (p.Glu636Ter)
c.1750G>T (p.Glu584Ter)
c.1873G>T (p.Glu625Ter)
c.1363G>T (p.Glu455Ter)
c.1540G>T (p.Glu514Ter)
c.1534G>T (p.Glu512Ter)
c.1075G>T (p.Glu359Ter)
c.604G>T (p.Glu202Ter)
n.2036G>T
n.2203G>T
c.1951G>T (p.Glu651Ter)
c.643G>T (p.Glu215Ter)
n.2253G>T
n.2226G>T
8g.141168358A>CCA372344231DENND3c.2108A>C (p.Glu703Ala)
c.1868A>C (p.Glu623Ala)
c.1712A>C (p.Glu571Ala)
c.1881A>C
n.1649A>C
c.1907A>C (p.Glu636Ala)
c.1751A>C (p.Glu584Ala)
c.1874A>C (p.Glu625Ala)
c.1364A>C (p.Glu455Ala)
c.1541A>C (p.Glu514Ala)
c.1535A>C (p.Glu512Ala)
c.1076A>C (p.Glu359Ala)
c.605A>C (p.Glu202Ala)
n.2037A>C
n.2204A>C
c.1952A>C (p.Glu651Ala)
c.644A>C (p.Glu215Ala)
n.2254A>C
n.2227A>C
8g.141168358A>GCA372344232DENND3c.2108A>G (p.Glu703Gly)
c.1868A>G (p.Glu623Gly)
c.1712A>G (p.Glu571Gly)
c.1881A>G
n.1649A>G
c.1907A>G (p.Glu636Gly)
c.1751A>G (p.Glu584Gly)
c.1874A>G (p.Glu625Gly)
c.1364A>G (p.Glu455Gly)
c.1541A>G (p.Glu514Gly)
c.1535A>G (p.Glu512Gly)
c.1076A>G (p.Glu359Gly)
c.605A>G (p.Glu202Gly)
n.2037A>G
n.2204A>G
c.1952A>G (p.Glu651Gly)
c.644A>G (p.Glu215Gly)
n.2254A>G
n.2227A>G
8g.141168358A>TCA372344233DENND3c.2108A>T (p.Glu703Val)
c.1868A>T (p.Glu623Val)
c.1712A>T (p.Glu571Val)
c.1881A>T
n.1649A>T
c.1907A>T (p.Glu636Val)
c.1751A>T (p.Glu584Val)
c.1874A>T (p.Glu625Val)
c.1364A>T (p.Glu455Val)
c.1541A>T (p.Glu514Val)
c.1535A>T (p.Glu512Val)
c.1076A>T (p.Glu359Val)
c.605A>T (p.Glu202Val)
n.2037A>T
n.2204A>T
c.1952A>T (p.Glu651Val)
c.644A>T (p.Glu215Val)
n.2254A>T
n.2227A>T
8g.141168359G>ACA463496962DENND3c.2109G>A (p.Glu703=)
c.1869G>A (p.Glu623=)
c.1713G>A (p.Glu571=)
c.1882G>A
n.1650G>A
c.1908G>A (p.Glu636=)
c.1752G>A (p.Glu584=)
c.1875G>A (p.Glu625=)
c.1365G>A (p.Glu455=)
c.1542G>A (p.Glu514=)
c.1536G>A (p.Glu512=)
c.1077G>A (p.Glu359=)
c.606G>A (p.Glu202=)
n.2038G>A
n.2205G>A
c.1953G>A (p.Glu651=)
c.645G>A (p.Glu215=)
n.2255G>A
n.2228G>A
8g.141168359G>CCA372344234DENND3c.2109G>C (p.Glu703Asp)
c.1869G>C (p.Glu623Asp)
c.1713G>C (p.Glu571Asp)
c.1882G>C
n.1650G>C
c.1908G>C (p.Glu636Asp)
c.1752G>C (p.Glu584Asp)
c.1875G>C (p.Glu625Asp)
c.1365G>C (p.Glu455Asp)
c.1542G>C (p.Glu514Asp)
c.1536G>C (p.Glu512Asp)
c.1077G>C (p.Glu359Asp)
c.606G>C (p.Glu202Asp)
n.2038G>C
n.2205G>C
c.1953G>C (p.Glu651Asp)
c.645G>C (p.Glu215Asp)
n.2255G>C
n.2228G>C
8g.141168359G>TCA372344235DENND3c.2109G>T (p.Glu703Asp)
c.1869G>T (p.Glu623Asp)
c.1713G>T (p.Glu571Asp)
c.1882G>T
n.1650G>T
c.1908G>T (p.Glu636Asp)
c.1752G>T (p.Glu584Asp)
c.1875G>T (p.Glu625Asp)
c.1365G>T (p.Glu455Asp)
c.1542G>T (p.Glu514Asp)
c.1536G>T (p.Glu512Asp)
c.1077G>T (p.Glu359Asp)
c.606G>T (p.Glu202Asp)
n.2038G>T
n.2205G>T
c.1953G>T (p.Glu651Asp)
c.645G>T (p.Glu215Asp)
n.2255G>T
n.2228G>T
 dbSNP gnomAD v3 gnomAD v4
8g.141168360A>CCA372344236DENND3c.2110A>C (p.Ile704Leu)
c.1870A>C (p.Ile624Leu)
c.1714A>C (p.Ile572Leu)
c.1883A>C
n.1651A>C
c.1909A>C (p.Ile637Leu)
c.1753A>C (p.Ile585Leu)
c.1876A>C (p.Ile626Leu)
c.1366A>C (p.Ile456Leu)
c.1543A>C (p.Ile515Leu)
c.1537A>C (p.Ile513Leu)
c.1078A>C (p.Ile360Leu)
c.607A>C (p.Ile203Leu)
n.2039A>C
n.2206A>C
c.1954A>C (p.Ile652Leu)
c.646A>C (p.Ile216Leu)
n.2256A>C
n.2229A>C
8g.141168360A>GCA372344237DENND3c.2110A>G (p.Ile704Val)
c.1870A>G (p.Ile624Val)
c.1714A>G (p.Ile572Val)
c.1883A>G
n.1651A>G
c.1909A>G (p.Ile637Val)
c.1753A>G (p.Ile585Val)
c.1876A>G (p.Ile626Val)
c.1366A>G (p.Ile456Val)
c.1543A>G (p.Ile515Val)
c.1537A>G (p.Ile513Val)
c.1078A>G (p.Ile360Val)
c.607A>G (p.Ile203Val)
n.2039A>G
n.2206A>G
c.1954A>G (p.Ile652Val)
c.646A>G (p.Ile216Val)
n.2256A>G
n.2229A>G
8g.141168360A>TCA372344238DENND3c.2110A>T (p.Ile704Phe)
c.1870A>T (p.Ile624Phe)
c.1714A>T (p.Ile572Phe)
c.1883A>T
n.1651A>T
c.1909A>T (p.Ile637Phe)
c.1753A>T (p.Ile585Phe)
c.1876A>T (p.Ile626Phe)
c.1366A>T (p.Ile456Phe)
c.1543A>T (p.Ile515Phe)
c.1537A>T (p.Ile513Phe)
c.1078A>T (p.Ile360Phe)
c.607A>T (p.Ile203Phe)
n.2039A>T
n.2206A>T
c.1954A>T (p.Ile652Phe)
c.646A>T (p.Ile216Phe)
n.2256A>T
n.2229A>T
8g.141168361T>ACA372344239DENND3c.2111T>A (p.Ile704Asn)
c.1871T>A (p.Ile624Asn)
c.1715T>A (p.Ile572Asn)
c.1884T>A
n.1652T>A
c.1910T>A (p.Ile637Asn)
c.1754T>A (p.Ile585Asn)
c.1877T>A (p.Ile626Asn)
c.1367T>A (p.Ile456Asn)
c.1544T>A (p.Ile515Asn)
c.1538T>A (p.Ile513Asn)
c.1079T>A (p.Ile360Asn)
c.608T>A (p.Ile203Asn)
n.2040T>A
n.2207T>A
c.1955T>A (p.Ile652Asn)
c.647T>A (p.Ile216Asn)
n.2257T>A
n.2230T>A
8g.141168361T>CCA372344240DENND3c.2111T>C (p.Ile704Thr)
c.1871T>C (p.Ile624Thr)
c.1715T>C (p.Ile572Thr)
c.1884T>C
n.1652T>C
c.1910T>C (p.Ile637Thr)
c.1754T>C (p.Ile585Thr)
c.1877T>C (p.Ile626Thr)
c.1367T>C (p.Ile456Thr)
c.1544T>C (p.Ile515Thr)
c.1538T>C (p.Ile513Thr)
c.1079T>C (p.Ile360Thr)
c.608T>C (p.Ile203Thr)
n.2040T>C
n.2207T>C
c.1955T>C (p.Ile652Thr)
c.647T>C (p.Ile216Thr)
n.2257T>C
n.2230T>C
8g.141168361T>GCA372344241DENND3c.2111T>G (p.Ile704Ser)
c.1871T>G (p.Ile624Ser)
c.1715T>G (p.Ile572Ser)
c.1884T>G
n.1652T>G
c.1910T>G (p.Ile637Ser)
c.1754T>G (p.Ile585Ser)
c.1877T>G (p.Ile626Ser)
c.1367T>G (p.Ile456Ser)
c.1544T>G (p.Ile515Ser)
c.1538T>G (p.Ile513Ser)
c.1079T>G (p.Ile360Ser)
c.608T>G (p.Ile203Ser)
n.2040T>G
n.2207T>G
c.1955T>G (p.Ile652Ser)
c.647T>G (p.Ile216Ser)
n.2257T>G
n.2230T>G
8g.141168362C>ACA4896807DENND3c.2112C>A (p.Ile704=)
c.1872C>A (p.Ile624=)
c.1716C>A (p.Ile572=)
c.1885C>A
n.1653C>A
c.1911C>A (p.Ile637=)
c.1755C>A (p.Ile585=)
c.1878C>A (p.Ile626=)
c.1368C>A (p.Ile456=)
c.1545C>A (p.Ile515=)
c.1539C>A (p.Ile513=)
c.1080C>A (p.Ile360=)
c.609C>A (p.Ile203=)
n.2041C>A
n.2208C>A
c.1956C>A (p.Ile652=)
c.648C>A (p.Ile216=)
n.2258C>A
n.2231C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168362C>GCA372344242DENND3c.2112C>G (p.Ile704Met)
c.1872C>G (p.Ile624Met)
c.1716C>G (p.Ile572Met)
c.1885C>G
n.1653C>G
c.1911C>G (p.Ile637Met)
c.1755C>G (p.Ile585Met)
c.1878C>G (p.Ile626Met)
c.1368C>G (p.Ile456Met)
c.1545C>G (p.Ile515Met)
c.1539C>G (p.Ile513Met)
c.1080C>G (p.Ile360Met)
c.609C>G (p.Ile203Met)
n.2041C>G
n.2208C>G
c.1956C>G (p.Ile652Met)
c.648C>G (p.Ile216Met)
n.2258C>G
n.2231C>G
8g.141168362C>TCA463496963DENND3c.2112C>T (p.Ile704=)
c.1872C>T (p.Ile624=)
c.1716C>T (p.Ile572=)
c.1885C>T
n.1653C>T
c.1911C>T (p.Ile637=)
c.1755C>T (p.Ile585=)
c.1878C>T (p.Ile626=)
c.1368C>T (p.Ile456=)
c.1545C>T (p.Ile515=)
c.1539C>T (p.Ile513=)
c.1080C>T (p.Ile360=)
c.609C>T (p.Ile203=)
n.2041C>T
n.2208C>T
c.1956C>T (p.Ile652=)
c.648C>T (p.Ile216=)
n.2258C>T
n.2231C>T
8g.141168363C>ACA372344243DENND3c.2113C>A (p.Leu705Met)
c.1873C>A (p.Leu625Met)
c.1717C>A (p.Leu573Met)
c.1886C>A
n.1654C>A
c.1912C>A (p.Leu638Met)
c.1756C>A (p.Leu586Met)
c.1879C>A (p.Leu627Met)
c.1369C>A (p.Leu457Met)
c.1546C>A (p.Leu516Met)
c.1540C>A (p.Leu514Met)
c.1081C>A (p.Leu361Met)
c.610C>A (p.Leu204Met)
n.2042C>A
n.2209C>A
c.1957C>A (p.Leu653Met)
c.649C>A (p.Leu217Met)
n.2259C>A
n.2232C>A
8g.141168363C>GCA372344244DENND3c.2113C>G (p.Leu705Val)
c.1873C>G (p.Leu625Val)
c.1717C>G (p.Leu573Val)
c.1886C>G
n.1654C>G
c.1912C>G (p.Leu638Val)
c.1756C>G (p.Leu586Val)
c.1879C>G (p.Leu627Val)
c.1369C>G (p.Leu457Val)
c.1546C>G (p.Leu516Val)
c.1540C>G (p.Leu514Val)
c.1081C>G (p.Leu361Val)
c.610C>G (p.Leu204Val)
n.2042C>G
n.2209C>G
c.1957C>G (p.Leu653Val)
c.649C>G (p.Leu217Val)
n.2259C>G
n.2232C>G
8g.141168363C>TCA463496964DENND3c.2113C>T (p.Leu705=)
c.1873C>T (p.Leu625=)
c.1717C>T (p.Leu573=)
c.1886C>T
n.1654C>T
c.1912C>T (p.Leu638=)
c.1756C>T (p.Leu586=)
c.1879C>T (p.Leu627=)
c.1369C>T (p.Leu457=)
c.1546C>T (p.Leu516=)
c.1540C>T (p.Leu514=)
c.1081C>T (p.Leu361=)
c.610C>T (p.Leu204=)
n.2042C>T
n.2209C>T
c.1957C>T (p.Leu653=)
c.649C>T (p.Leu217=)
n.2259C>T
n.2232C>T
8g.141168364T>ACA372344245DENND3c.2114T>A (p.Leu705Gln)
c.1874T>A (p.Leu625Gln)
c.1718T>A (p.Leu573Gln)
c.1887T>A
n.1655T>A
c.1913T>A (p.Leu638Gln)
c.1757T>A (p.Leu586Gln)
c.1880T>A (p.Leu627Gln)
c.1370T>A (p.Leu457Gln)
c.1547T>A (p.Leu516Gln)
c.1541T>A (p.Leu514Gln)
c.1082T>A (p.Leu361Gln)
c.611T>A (p.Leu204Gln)
n.2043T>A
n.2210T>A
c.1958T>A (p.Leu653Gln)
c.650T>A (p.Leu217Gln)
n.2260T>A
n.2233T>A
 dbSNP gnomAD v4
8g.141168364T>CCA372344246DENND3c.2114T>C (p.Leu705Pro)
c.1874T>C (p.Leu625Pro)
c.1718T>C (p.Leu573Pro)
c.1887T>C
n.1655T>C
c.1913T>C (p.Leu638Pro)
c.1757T>C (p.Leu586Pro)
c.1880T>C (p.Leu627Pro)
c.1370T>C (p.Leu457Pro)
c.1547T>C (p.Leu516Pro)
c.1541T>C (p.Leu514Pro)
c.1082T>C (p.Leu361Pro)
c.611T>C (p.Leu204Pro)
n.2043T>C
n.2210T>C
c.1958T>C (p.Leu653Pro)
c.650T>C (p.Leu217Pro)
n.2260T>C
n.2233T>C
 gnomAD v4
8g.141168364T>GCA372344247DENND3c.2114T>G (p.Leu705Arg)
c.1874T>G (p.Leu625Arg)
c.1718T>G (p.Leu573Arg)
c.1887T>G
n.1655T>G
c.1913T>G (p.Leu638Arg)
c.1757T>G (p.Leu586Arg)
c.1880T>G (p.Leu627Arg)
c.1370T>G (p.Leu457Arg)
c.1547T>G (p.Leu516Arg)
c.1541T>G (p.Leu514Arg)
c.1082T>G (p.Leu361Arg)
c.611T>G (p.Leu204Arg)
n.2043T>G
n.2210T>G
c.1958T>G (p.Leu653Arg)
c.650T>G (p.Leu217Arg)
n.2260T>G
n.2233T>G
8g.141168365G>ACA463496965DENND3c.2115G>A (p.Leu705=)
c.1875G>A (p.Leu625=)
c.1719G>A (p.Leu573=)
c.1888G>A
n.1656G>A
c.1914G>A (p.Leu638=)
c.1758G>A (p.Leu586=)
c.1881G>A (p.Leu627=)
c.1371G>A (p.Leu457=)
c.1548G>A (p.Leu516=)
c.1542G>A (p.Leu514=)
c.1083G>A (p.Leu361=)
c.612G>A (p.Leu204=)
n.2044G>A
n.2211G>A
c.1959G>A (p.Leu653=)
c.651G>A (p.Leu217=)
n.2261G>A
n.2234G>A
 dbSNP gnomAD v2 gnomAD v4
8g.141168365G>CCA463496966DENND3c.2115G>C (p.Leu705=)
c.1875G>C (p.Leu625=)
c.1719G>C (p.Leu573=)
c.1888G>C
n.1656G>C
c.1914G>C (p.Leu638=)
c.1758G>C (p.Leu586=)
c.1881G>C (p.Leu627=)
c.1371G>C (p.Leu457=)
c.1548G>C (p.Leu516=)
c.1542G>C (p.Leu514=)
c.1083G>C (p.Leu361=)
c.612G>C (p.Leu204=)
n.2044G>C
n.2211G>C
c.1959G>C (p.Leu653=)
c.651G>C (p.Leu217=)
n.2261G>C
n.2234G>C
8g.141168365G>TCA463496967DENND3c.2115G>T (p.Leu705=)
c.1875G>T (p.Leu625=)
c.1719G>T (p.Leu573=)
c.1888G>T
n.1656G>T
c.1914G>T (p.Leu638=)
c.1758G>T (p.Leu586=)
c.1881G>T (p.Leu627=)
c.1371G>T (p.Leu457=)
c.1548G>T (p.Leu516=)
c.1542G>T (p.Leu514=)
c.1083G>T (p.Leu361=)
c.612G>T (p.Leu204=)
n.2044G>T
n.2211G>T
c.1959G>T (p.Leu653=)
c.651G>T (p.Leu217=)
n.2261G>T
n.2234G>T
8g.141168366G>ACA372344248DENND3c.2116G>A (p.Asp706Asn)
c.1876G>A (p.Asp626Asn)
c.1720G>A (p.Asp574Asn)
c.1889G>A
n.1657G>A
c.1915G>A (p.Asp639Asn)
c.1759G>A (p.Asp587Asn)
c.1882G>A (p.Asp628Asn)
c.1372G>A (p.Asp458Asn)
c.1549G>A (p.Asp517Asn)
c.1543G>A (p.Asp515Asn)
c.1084G>A (p.Asp362Asn)
c.613G>A (p.Asp205Asn)
n.2045G>A
n.2212G>A
c.1960G>A (p.Asp654Asn)
c.652G>A (p.Asp218Asn)
n.2262G>A
n.2235G>A
8g.141168366G>CCA372344249DENND3c.2116G>C (p.Asp706His)
c.1876G>C (p.Asp626His)
c.1720G>C (p.Asp574His)
c.1889G>C
n.1657G>C
c.1915G>C (p.Asp639His)
c.1759G>C (p.Asp587His)
c.1882G>C (p.Asp628His)
c.1372G>C (p.Asp458His)
c.1549G>C (p.Asp517His)
c.1543G>C (p.Asp515His)
c.1084G>C (p.Asp362His)
c.613G>C (p.Asp205His)
n.2045G>C
n.2212G>C
c.1960G>C (p.Asp654His)
c.652G>C (p.Asp218His)
n.2262G>C
n.2235G>C
8g.141168366G>TCA372344250DENND3c.2116G>T (p.Asp706Tyr)
c.1876G>T (p.Asp626Tyr)
c.1720G>T (p.Asp574Tyr)
c.1889G>T
n.1657G>T
c.1915G>T (p.Asp639Tyr)
c.1759G>T (p.Asp587Tyr)
c.1882G>T (p.Asp628Tyr)
c.1372G>T (p.Asp458Tyr)
c.1549G>T (p.Asp517Tyr)
c.1543G>T (p.Asp515Tyr)
c.1084G>T (p.Asp362Tyr)
c.613G>T (p.Asp205Tyr)
n.2045G>T
n.2212G>T
c.1960G>T (p.Asp654Tyr)
c.652G>T (p.Asp218Tyr)
n.2262G>T
n.2235G>T
8g.141168367A>CCA372344251DENND3c.2117A>C (p.Asp706Ala)
c.1877A>C (p.Asp626Ala)
c.1721A>C (p.Asp574Ala)
c.1890A>C
n.1658A>C
c.1916A>C (p.Asp639Ala)
c.1760A>C (p.Asp587Ala)
c.1883A>C (p.Asp628Ala)
c.1373A>C (p.Asp458Ala)
c.1550A>C (p.Asp517Ala)
c.1544A>C (p.Asp515Ala)
c.1085A>C (p.Asp362Ala)
c.614A>C (p.Asp205Ala)
n.2046A>C
n.2213A>C
c.1961A>C (p.Asp654Ala)
c.653A>C (p.Asp218Ala)
n.2263A>C
n.2236A>C
8g.141168367A>GCA372344252DENND3c.2117A>G (p.Asp706Gly)
c.1877A>G (p.Asp626Gly)
c.1721A>G (p.Asp574Gly)
c.1890A>G
n.1658A>G
c.1916A>G (p.Asp639Gly)
c.1760A>G (p.Asp587Gly)
c.1883A>G (p.Asp628Gly)
c.1373A>G (p.Asp458Gly)
c.1550A>G (p.Asp517Gly)
c.1544A>G (p.Asp515Gly)
c.1085A>G (p.Asp362Gly)
c.614A>G (p.Asp205Gly)
n.2046A>G
n.2213A>G
c.1961A>G (p.Asp654Gly)
c.653A>G (p.Asp218Gly)
n.2263A>G
n.2236A>G
8g.141168367A>TCA372344253DENND3c.2117A>T (p.Asp706Val)
c.1877A>T (p.Asp626Val)
c.1721A>T (p.Asp574Val)
c.1890A>T
n.1658A>T
c.1916A>T (p.Asp639Val)
c.1760A>T (p.Asp587Val)
c.1883A>T (p.Asp628Val)
c.1373A>T (p.Asp458Val)
c.1550A>T (p.Asp517Val)
c.1544A>T (p.Asp515Val)
c.1085A>T (p.Asp362Val)
c.614A>T (p.Asp205Val)
n.2046A>T
n.2213A>T
c.1961A>T (p.Asp654Val)
c.653A>T (p.Asp218Val)
n.2263A>T
n.2236A>T
8g.141168368C>ACA372344254DENND3c.2118C>A (p.Asp706Glu)
c.1878C>A (p.Asp626Glu)
c.1722C>A (p.Asp574Glu)
c.1891C>A
n.1659C>A
c.1917C>A (p.Asp639Glu)
c.1761C>A (p.Asp587Glu)
c.1884C>A (p.Asp628Glu)
c.1374C>A (p.Asp458Glu)
c.1551C>A (p.Asp517Glu)
c.1545C>A (p.Asp515Glu)
c.1086C>A (p.Asp362Glu)
c.615C>A (p.Asp205Glu)
n.2047C>A
n.2214C>A
c.1962C>A (p.Asp654Glu)
c.654C>A (p.Asp218Glu)
n.2264C>A
n.2237C>A
 dbSNP gnomAD v2 gnomAD v4
8g.141168368C>GCA4896808DENND3c.2118C>G (p.Asp706Glu)
c.1878C>G (p.Asp626Glu)
c.1722C>G (p.Asp574Glu)
c.1891C>G
n.1659C>G
c.1917C>G (p.Asp639Glu)
c.1761C>G (p.Asp587Glu)
c.1884C>G (p.Asp628Glu)
c.1374C>G (p.Asp458Glu)
c.1551C>G (p.Asp517Glu)
c.1545C>G (p.Asp515Glu)
c.1086C>G (p.Asp362Glu)
c.615C>G (p.Asp205Glu)
n.2047C>G
n.2214C>G
c.1962C>G (p.Asp654Glu)
c.654C>G (p.Asp218Glu)
n.2264C>G
n.2237C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168368C>TCA463496968DENND3c.2118C>T (p.Asp706=)
c.1878C>T (p.Asp626=)
c.1722C>T (p.Asp574=)
c.1891C>T
n.1659C>T
c.1917C>T (p.Asp639=)
c.1761C>T (p.Asp587=)
c.1884C>T (p.Asp628=)
c.1374C>T (p.Asp458=)
c.1551C>T (p.Asp517=)
c.1545C>T (p.Asp515=)
c.1086C>T (p.Asp362=)
c.615C>T (p.Asp205=)
n.2047C>T
n.2214C>T
c.1962C>T (p.Asp654=)
c.654C>T (p.Asp218=)
n.2264C>T
n.2237C>T
 gnomAD v4
8g.141168369A>CCA372344255DENND3c.2119A>C (p.Lys707Gln)
c.1879A>C (p.Lys627Gln)
c.1723A>C (p.Lys575Gln)
c.1892A>C
n.1660A>C
c.1918A>C (p.Lys640Gln)
c.1762A>C (p.Lys588Gln)
c.1885A>C (p.Lys629Gln)
c.1375A>C (p.Lys459Gln)
c.1552A>C (p.Lys518Gln)
c.1546A>C (p.Lys516Gln)
c.1087A>C (p.Lys363Gln)
c.616A>C (p.Lys206Gln)
n.2048A>C
n.2215A>C
c.1963A>C (p.Lys655Gln)
c.655A>C (p.Lys219Gln)
n.2265A>C
n.2238A>C
8g.141168369A>GCA372344257DENND3c.2119A>G (p.Lys707Glu)
c.1879A>G (p.Lys627Glu)
c.1723A>G (p.Lys575Glu)
c.1892A>G
n.1660A>G
c.1918A>G (p.Lys640Glu)
c.1762A>G (p.Lys588Glu)
c.1885A>G (p.Lys629Glu)
c.1375A>G (p.Lys459Glu)
c.1552A>G (p.Lys518Glu)
c.1546A>G (p.Lys516Glu)
c.1087A>G (p.Lys363Glu)
c.616A>G (p.Lys206Glu)
n.2048A>G
n.2215A>G
c.1963A>G (p.Lys655Glu)
c.655A>G (p.Lys219Glu)
n.2265A>G
n.2238A>G
 gnomAD v4
8g.141168369A>TCA372344256DENND3c.2119A>T (p.Lys707Ter)
c.1879A>T (p.Lys627Ter)
c.1723A>T (p.Lys575Ter)
c.1892A>T
n.1660A>T
c.1918A>T (p.Lys640Ter)
c.1762A>T (p.Lys588Ter)
c.1885A>T (p.Lys629Ter)
c.1375A>T (p.Lys459Ter)
c.1552A>T (p.Lys518Ter)
c.1546A>T (p.Lys516Ter)
c.1087A>T (p.Lys363Ter)
c.616A>T (p.Lys206Ter)
n.2048A>T
n.2215A>T
c.1963A>T (p.Lys655Ter)
c.655A>T (p.Lys219Ter)
n.2265A>T
n.2238A>T
8g.141168370A>CCA372344258DENND3c.2120A>C (p.Lys707Thr)
c.1880A>C (p.Lys627Thr)
c.1724A>C (p.Lys575Thr)
c.1893A>C
n.1661A>C
c.1919A>C (p.Lys640Thr)
c.1763A>C (p.Lys588Thr)
c.1886A>C (p.Lys629Thr)
c.1376A>C (p.Lys459Thr)
c.1553A>C (p.Lys518Thr)
c.1547A>C (p.Lys516Thr)
c.1088A>C (p.Lys363Thr)
c.617A>C (p.Lys206Thr)
n.2049A>C
n.2216A>C
c.1964A>C (p.Lys655Thr)
c.656A>C (p.Lys219Thr)
n.2266A>C
n.2239A>C
8g.141168370A>GCA372344260DENND3c.2120A>G (p.Lys707Arg)
c.1880A>G (p.Lys627Arg)
c.1724A>G (p.Lys575Arg)
c.1893A>G
n.1661A>G
c.1919A>G (p.Lys640Arg)
c.1763A>G (p.Lys588Arg)
c.1886A>G (p.Lys629Arg)
c.1376A>G (p.Lys459Arg)
c.1553A>G (p.Lys518Arg)
c.1547A>G (p.Lys516Arg)
c.1088A>G (p.Lys363Arg)
c.617A>G (p.Lys206Arg)
n.2049A>G
n.2216A>G
c.1964A>G (p.Lys655Arg)
c.656A>G (p.Lys219Arg)
n.2266A>G
n.2239A>G
8g.141168370A>TCA372344259DENND3c.2120A>T (p.Lys707Met)
c.1880A>T (p.Lys627Met)
c.1724A>T (p.Lys575Met)
c.1893A>T
n.1661A>T
c.1919A>T (p.Lys640Met)
c.1763A>T (p.Lys588Met)
c.1886A>T (p.Lys629Met)
c.1376A>T (p.Lys459Met)
c.1553A>T (p.Lys518Met)
c.1547A>T (p.Lys516Met)
c.1088A>T (p.Lys363Met)
c.617A>T (p.Lys206Met)
n.2049A>T
n.2216A>T
c.1964A>T (p.Lys655Met)
c.656A>T (p.Lys219Met)
n.2266A>T
n.2239A>T
8g.141168371G>ACA463496969DENND3c.2121G>A (p.Lys707=)
c.1881G>A (p.Lys627=)
c.1725G>A (p.Lys575=)
c.1894G>A
n.1662G>A
c.1920G>A (p.Lys640=)
c.1764G>A (p.Lys588=)
c.1887G>A (p.Lys629=)
c.1377G>A (p.Lys459=)
c.1554G>A (p.Lys518=)
c.1548G>A (p.Lys516=)
c.1089G>A (p.Lys363=)
c.618G>A (p.Lys206=)
n.2050G>A
n.2217G>A
c.1965G>A (p.Lys655=)
c.657G>A (p.Lys219=)
n.2267G>A
n.2240G>A
8g.141168371G>CCA372344261DENND3c.2121G>C (p.Lys707Asn)
c.1881G>C (p.Lys627Asn)
c.1725G>C (p.Lys575Asn)
c.1894G>C
n.1662G>C
c.1920G>C (p.Lys640Asn)
c.1764G>C (p.Lys588Asn)
c.1887G>C (p.Lys629Asn)
c.1377G>C (p.Lys459Asn)
c.1554G>C (p.Lys518Asn)
c.1548G>C (p.Lys516Asn)
c.1089G>C (p.Lys363Asn)
c.618G>C (p.Lys206Asn)
n.2050G>C
n.2217G>C
c.1965G>C (p.Lys655Asn)
c.657G>C (p.Lys219Asn)
n.2267G>C
n.2240G>C
8g.141168371G>TCA372344262DENND3c.2121G>T (p.Lys707Asn)
c.1881G>T (p.Lys627Asn)
c.1725G>T (p.Lys575Asn)
c.1894G>T
n.1662G>T
c.1920G>T (p.Lys640Asn)
c.1764G>T (p.Lys588Asn)
c.1887G>T (p.Lys629Asn)
c.1377G>T (p.Lys459Asn)
c.1554G>T (p.Lys518Asn)
c.1548G>T (p.Lys516Asn)
c.1089G>T (p.Lys363Asn)
c.618G>T (p.Lys206Asn)
n.2050G>T
n.2217G>T
c.1965G>T (p.Lys655Asn)
c.657G>T (p.Lys219Asn)
n.2267G>T
n.2240G>T
8g.141168372C>ACA372344263DENND3c.2122C>A (p.Pro708Thr)
c.1882C>A (p.Pro628Thr)
c.1726C>A (p.Pro576Thr)
c.1895C>A
n.1663C>A
c.1921C>A (p.Pro641Thr)
c.1765C>A (p.Pro589Thr)
c.1888C>A (p.Pro630Thr)
c.1378C>A (p.Pro460Thr)
c.1555C>A (p.Pro519Thr)
c.1549C>A (p.Pro517Thr)
c.1090C>A (p.Pro364Thr)
c.619C>A (p.Pro207Thr)
n.2051C>A
n.2218C>A
c.1966C>A (p.Pro656Thr)
c.658C>A (p.Pro220Thr)
n.2268C>A
n.2241C>A
8g.141168372C>GCA372344265DENND3c.2122C>G (p.Pro708Ala)
c.1882C>G (p.Pro628Ala)
c.1726C>G (p.Pro576Ala)
c.1895C>G
n.1663C>G
c.1921C>G (p.Pro641Ala)
c.1765C>G (p.Pro589Ala)
c.1888C>G (p.Pro630Ala)
c.1378C>G (p.Pro460Ala)
c.1555C>G (p.Pro519Ala)
c.1549C>G (p.Pro517Ala)
c.1090C>G (p.Pro364Ala)
c.619C>G (p.Pro207Ala)
n.2051C>G
n.2218C>G
c.1966C>G (p.Pro656Ala)
c.658C>G (p.Pro220Ala)
n.2268C>G
n.2241C>G
8g.141168372C>TCA372344264DENND3c.2122C>T (p.Pro708Ser)
c.1882C>T (p.Pro628Ser)
c.1726C>T (p.Pro576Ser)
c.1895C>T
n.1663C>T
c.1921C>T (p.Pro641Ser)
c.1765C>T (p.Pro589Ser)
c.1888C>T (p.Pro630Ser)
c.1378C>T (p.Pro460Ser)
c.1555C>T (p.Pro519Ser)
c.1549C>T (p.Pro517Ser)
c.1090C>T (p.Pro364Ser)
c.619C>T (p.Pro207Ser)
n.2051C>T
n.2218C>T
c.1966C>T (p.Pro656Ser)
c.658C>T (p.Pro220Ser)
n.2268C>T
n.2241C>T
8g.141168373C>ACA372344266DENND3c.2123C>A (p.Pro708Gln)
c.1883C>A (p.Pro628Gln)
c.1727C>A (p.Pro576Gln)
c.1896C>A
n.1664C>A
c.1922C>A (p.Pro641Gln)
c.1766C>A (p.Pro589Gln)
c.1889C>A (p.Pro630Gln)
c.1379C>A (p.Pro460Gln)
c.1556C>A (p.Pro519Gln)
c.1550C>A (p.Pro517Gln)
c.1091C>A (p.Pro364Gln)
c.620C>A (p.Pro207Gln)
n.2052C>A
n.2219C>A
c.1967C>A (p.Pro656Gln)
c.659C>A (p.Pro220Gln)
n.2269C>A
n.2242C>A
8g.141168373C>GCA372344267DENND3c.2123C>G (p.Pro708Arg)
c.1883C>G (p.Pro628Arg)
c.1727C>G (p.Pro576Arg)
c.1896C>G
n.1664C>G
c.1922C>G (p.Pro641Arg)
c.1766C>G (p.Pro589Arg)
c.1889C>G (p.Pro630Arg)
c.1379C>G (p.Pro460Arg)
c.1556C>G (p.Pro519Arg)
c.1550C>G (p.Pro517Arg)
c.1091C>G (p.Pro364Arg)
c.620C>G (p.Pro207Arg)
n.2052C>G
n.2219C>G
c.1967C>G (p.Pro656Arg)
c.659C>G (p.Pro220Arg)
n.2269C>G
n.2242C>G
8g.141168373C>TCA4896809DENND3c.2123C>T (p.Pro708Leu)
c.1883C>T (p.Pro628Leu)
c.1727C>T (p.Pro576Leu)
c.1896C>T
n.1664C>T
c.1922C>T (p.Pro641Leu)
c.1766C>T (p.Pro589Leu)
c.1889C>T (p.Pro630Leu)
c.1379C>T (p.Pro460Leu)
c.1556C>T (p.Pro519Leu)
c.1550C>T (p.Pro517Leu)
c.1091C>T (p.Pro364Leu)
c.620C>T (p.Pro207Leu)
n.2052C>T
n.2219C>T
c.1967C>T (p.Pro656Leu)
c.659C>T (p.Pro220Leu)
n.2269C>T
n.2242C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168374G>ACA4896810DENND3c.2124G>A (p.Pro708=)
c.1884G>A (p.Pro628=)
c.1728G>A (p.Pro576=)
c.1897G>A
n.1665G>A
c.1923G>A (p.Pro641=)
c.1767G>A (p.Pro589=)
c.1890G>A (p.Pro630=)
c.1380G>A (p.Pro460=)
c.1557G>A (p.Pro519=)
c.1551G>A (p.Pro517=)
c.1092G>A (p.Pro364=)
c.621G>A (p.Pro207=)
n.2053G>A
n.2220G>A
c.1968G>A (p.Pro656=)
c.660G>A (p.Pro220=)
n.2270G>A
n.2243G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168374G>CCA463496970DENND3c.2124G>C (p.Pro708=)
c.1884G>C (p.Pro628=)
c.1728G>C (p.Pro576=)
c.1897G>C
n.1665G>C
c.1923G>C (p.Pro641=)
c.1767G>C (p.Pro589=)
c.1890G>C (p.Pro630=)
c.1380G>C (p.Pro460=)
c.1557G>C (p.Pro519=)
c.1551G>C (p.Pro517=)
c.1092G>C (p.Pro364=)
c.621G>C (p.Pro207=)
n.2053G>C
n.2220G>C
c.1968G>C (p.Pro656=)
c.660G>C (p.Pro220=)
n.2270G>C
n.2243G>C
8g.141168374G>TCA463496971DENND3c.2124G>T (p.Pro708=)
c.1884G>T (p.Pro628=)
c.1728G>T (p.Pro576=)
c.1897G>T
n.1665G>T
c.1923G>T (p.Pro641=)
c.1767G>T (p.Pro589=)
c.1890G>T (p.Pro630=)
c.1380G>T (p.Pro460=)
c.1557G>T (p.Pro519=)
c.1551G>T (p.Pro517=)
c.1092G>T (p.Pro364=)
c.621G>T (p.Pro207=)
n.2053G>T
n.2220G>T
c.1968G>T (p.Pro656=)
c.660G>T (p.Pro220=)
n.2270G>T
n.2243G>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168375C>ACA372344268DENND3c.2125C>A (p.His709Asn)
c.1885C>A (p.His629Asn)
c.1729C>A (p.His577Asn)
c.1898C>A
n.1666C>A
c.1924C>A (p.His642Asn)
c.1768C>A (p.His590Asn)
c.1891C>A (p.His631Asn)
c.1381C>A (p.His461Asn)
c.1558C>A (p.His520Asn)
c.1552C>A (p.His518Asn)
c.1093C>A (p.His365Asn)
c.622C>A (p.His208Asn)
n.2054C>A
n.2221C>A
c.1969C>A (p.His657Asn)
c.661C>A (p.His221Asn)
n.2271C>A
n.2244C>A
 dbSNP gnomAD v2 gnomAD v4
8g.141168375C>GCA372344269DENND3c.2125C>G (p.His709Asp)
c.1885C>G (p.His629Asp)
c.1729C>G (p.His577Asp)
c.1898C>G
n.1666C>G
c.1924C>G (p.His642Asp)
c.1768C>G (p.His590Asp)
c.1891C>G (p.His631Asp)
c.1381C>G (p.His461Asp)
c.1558C>G (p.His520Asp)
c.1552C>G (p.His518Asp)
c.1093C>G (p.His365Asp)
c.622C>G (p.His208Asp)
n.2054C>G
n.2221C>G
c.1969C>G (p.His657Asp)
c.661C>G (p.His221Asp)
n.2271C>G
n.2244C>G
8g.141168375C>TCA372344270DENND3c.2125C>T (p.His709Tyr)
c.1885C>T (p.His629Tyr)
c.1729C>T (p.His577Tyr)
c.1898C>T
n.1666C>T
c.1924C>T (p.His642Tyr)
c.1768C>T (p.His590Tyr)
c.1891C>T (p.His631Tyr)
c.1381C>T (p.His461Tyr)
c.1558C>T (p.His520Tyr)
c.1552C>T (p.His518Tyr)
c.1093C>T (p.His365Tyr)
c.622C>T (p.His208Tyr)
n.2054C>T
n.2221C>T
c.1969C>T (p.His657Tyr)
c.661C>T (p.His221Tyr)
n.2271C>T
n.2244C>T
 gnomAD v4
8g.141168376A>CCA372344271DENND3c.2126A>C (p.His709Pro)
c.1886A>C (p.His629Pro)
c.1730A>C (p.His577Pro)
c.1899A>C
n.1667A>C
c.1925A>C (p.His642Pro)
c.1769A>C (p.His590Pro)
c.1892A>C (p.His631Pro)
c.1382A>C (p.His461Pro)
c.1559A>C (p.His520Pro)
c.1553A>C (p.His518Pro)
c.1094A>C (p.His365Pro)
c.623A>C (p.His208Pro)
n.2055A>C
n.2222A>C
c.1970A>C (p.His657Pro)
c.662A>C (p.His221Pro)
n.2272A>C
n.2245A>C
8g.141168376A>GCA372344272DENND3c.2126A>G (p.His709Arg)
c.1886A>G (p.His629Arg)
c.1730A>G (p.His577Arg)
c.1899A>G
n.1667A>G
c.1925A>G (p.His642Arg)
c.1769A>G (p.His590Arg)
c.1892A>G (p.His631Arg)
c.1382A>G (p.His461Arg)
c.1559A>G (p.His520Arg)
c.1553A>G (p.His518Arg)
c.1094A>G (p.His365Arg)
c.623A>G (p.His208Arg)
n.2055A>G
n.2222A>G
c.1970A>G (p.His657Arg)
c.662A>G (p.His221Arg)
n.2272A>G
n.2245A>G
 COSMIC
8g.141168376A>TCA372344273DENND3c.2126A>T (p.His709Leu)
c.1886A>T (p.His629Leu)
c.1730A>T (p.His577Leu)
c.1899A>T
n.1667A>T
c.1925A>T (p.His642Leu)
c.1769A>T (p.His590Leu)
c.1892A>T (p.His631Leu)
c.1382A>T (p.His461Leu)
c.1559A>T (p.His520Leu)
c.1553A>T (p.His518Leu)
c.1094A>T (p.His365Leu)
c.623A>T (p.His208Leu)
n.2055A>T
n.2222A>T
c.1970A>T (p.His657Leu)
c.662A>T (p.His221Leu)
n.2272A>T
n.2245A>T
 gnomAD v4
8g.141168377C>ACA372344275DENND3c.2127C>A (p.His709Gln)
c.1887C>A (p.His629Gln)
c.1731C>A (p.His577Gln)
c.1900C>A
n.1668C>A
c.1926C>A (p.His642Gln)
c.1770C>A (p.His590Gln)
c.1893C>A (p.His631Gln)
c.1383C>A (p.His461Gln)
c.1560C>A (p.His520Gln)
c.1554C>A (p.His518Gln)
c.1095C>A (p.His365Gln)
c.624C>A (p.His208Gln)
n.2056C>A
n.2223C>A
c.1971C>A (p.His657Gln)
c.663C>A (p.His221Gln)
n.2273C>A
n.2246C>A
8g.141168377C>GCA372344274DENND3c.2127C>G (p.His709Gln)
c.1887C>G (p.His629Gln)
c.1731C>G (p.His577Gln)
c.1900C>G
n.1668C>G
c.1926C>G (p.His642Gln)
c.1770C>G (p.His590Gln)
c.1893C>G (p.His631Gln)
c.1383C>G (p.His461Gln)
c.1560C>G (p.His520Gln)
c.1554C>G (p.His518Gln)
c.1095C>G (p.His365Gln)
c.624C>G (p.His208Gln)
n.2056C>G
n.2223C>G
c.1971C>G (p.His657Gln)
c.663C>G (p.His221Gln)
n.2273C>G
n.2246C>G
8g.141168377C>TCA4896811DENND3c.2127C>T (p.His709=)
c.1887C>T (p.His629=)
c.1731C>T (p.His577=)
c.1900C>T
n.1668C>T
c.1926C>T (p.His642=)
c.1770C>T (p.His590=)
c.1893C>T (p.His631=)
c.1383C>T (p.His461=)
c.1560C>T (p.His520=)
c.1554C>T (p.His518=)
c.1095C>T (p.His365=)
c.624C>T (p.His208=)
n.2056C>T
n.2223C>T
c.1971C>T (p.His657=)
c.663C>T (p.His221=)
n.2273C>T
n.2246C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168378G>ACA372344276DENND3c.2128G>A (p.Glu710Lys)
c.1888G>A (p.Glu630Lys)
c.1732G>A (p.Glu578Lys)
c.1901G>A
n.1669G>A
c.1927G>A (p.Glu643Lys)
c.1771G>A (p.Glu591Lys)
c.1894G>A (p.Glu632Lys)
c.1384G>A (p.Glu462Lys)
c.1561G>A (p.Glu521Lys)
c.1555G>A (p.Glu519Lys)
c.1096G>A (p.Glu366Lys)
c.625G>A (p.Glu209Lys)
n.2057G>A
n.2224G>A
c.1972G>A (p.Glu658Lys)
c.664G>A (p.Glu222Lys)
n.2274G>A
n.2247G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.141168378G>CCA372344277DENND3c.2128G>C (p.Glu710Gln)
c.1888G>C (p.Glu630Gln)
c.1732G>C (p.Glu578Gln)
c.1901G>C
n.1669G>C
c.1927G>C (p.Glu643Gln)
c.1771G>C (p.Glu591Gln)
c.1894G>C (p.Glu632Gln)
c.1384G>C (p.Glu462Gln)
c.1561G>C (p.Glu521Gln)
c.1555G>C (p.Glu519Gln)
c.1096G>C (p.Glu366Gln)
c.625G>C (p.Glu209Gln)
n.2057G>C
n.2224G>C
c.1972G>C (p.Glu658Gln)
c.664G>C (p.Glu222Gln)
n.2274G>C
n.2247G>C
 gnomAD v4
8g.141168378G>TCA372344278DENND3c.2128G>T (p.Glu710Ter)
c.1888G>T (p.Glu630Ter)
c.1732G>T (p.Glu578Ter)
c.1901G>T
n.1669G>T
c.1927G>T (p.Glu643Ter)
c.1771G>T (p.Glu591Ter)
c.1894G>T (p.Glu632Ter)
c.1384G>T (p.Glu462Ter)
c.1561G>T (p.Glu521Ter)
c.1555G>T (p.Glu519Ter)
c.1096G>T (p.Glu366Ter)
c.625G>T (p.Glu209Ter)
n.2057G>T
n.2224G>T
c.1972G>T (p.Glu658Ter)
c.664G>T (p.Glu222Ter)
n.2274G>T
n.2247G>T
8g.141168379A>CCA372344279DENND3c.2129A>C (p.Glu710Ala)
c.1889A>C (p.Glu630Ala)
c.1733A>C (p.Glu578Ala)
c.1902A>C
n.1670A>C
c.1928A>C (p.Glu643Ala)
c.1772A>C (p.Glu591Ala)
c.1895A>C (p.Glu632Ala)
c.1385A>C (p.Glu462Ala)
c.1562A>C (p.Glu521Ala)
c.1556A>C (p.Glu519Ala)
c.1097A>C (p.Glu366Ala)
c.626A>C (p.Glu209Ala)
n.2058A>C
n.2225A>C
c.1973A>C (p.Glu658Ala)
c.665A>C (p.Glu222Ala)
n.2275A>C
n.2248A>C
 gnomAD v4
8g.141168379A>GCA372344280DENND3c.2129A>G (p.Glu710Gly)
c.1889A>G (p.Glu630Gly)
c.1733A>G (p.Glu578Gly)
c.1902A>G
n.1670A>G
c.1928A>G (p.Glu643Gly)
c.1772A>G (p.Glu591Gly)
c.1895A>G (p.Glu632Gly)
c.1385A>G (p.Glu462Gly)
c.1562A>G (p.Glu521Gly)
c.1556A>G (p.Glu519Gly)
c.1097A>G (p.Glu366Gly)
c.626A>G (p.Glu209Gly)
n.2058A>G
n.2225A>G
c.1973A>G (p.Glu658Gly)
c.665A>G (p.Glu222Gly)
n.2275A>G
n.2248A>G
8g.141168379A>TCA372344281DENND3c.2129A>T (p.Glu710Val)
c.1889A>T (p.Glu630Val)
c.1733A>T (p.Glu578Val)
c.1902A>T
n.1670A>T
c.1928A>T (p.Glu643Val)
c.1772A>T (p.Glu591Val)
c.1895A>T (p.Glu632Val)
c.1385A>T (p.Glu462Val)
c.1562A>T (p.Glu521Val)
c.1556A>T (p.Glu519Val)
c.1097A>T (p.Glu366Val)
c.626A>T (p.Glu209Val)
n.2058A>T
n.2225A>T
c.1973A>T (p.Glu658Val)
c.665A>T (p.Glu222Val)
n.2275A>T
n.2248A>T
8g.141168380G>ACA463496972DENND3c.2130G>A (p.Glu710=)
c.1890G>A (p.Glu630=)
c.1734G>A (p.Glu578=)
c.1903G>A
n.1671G>A
c.1929G>A (p.Glu643=)
c.1773G>A (p.Glu591=)
c.1896G>A (p.Glu632=)
c.1386G>A (p.Glu462=)
c.1563G>A (p.Glu521=)
c.1557G>A (p.Glu519=)
c.1098G>A (p.Glu366=)
c.627G>A (p.Glu209=)
n.2059G>A
n.2226G>A
c.1974G>A (p.Glu658=)
c.666G>A (p.Glu222=)
n.2276G>A
n.2249G>A
8g.141168380G>CCA372344282DENND3c.2130G>C (p.Glu710Asp)
c.1890G>C (p.Glu630Asp)
c.1734G>C (p.Glu578Asp)
c.1903G>C
n.1671G>C
c.1929G>C (p.Glu643Asp)
c.1773G>C (p.Glu591Asp)
c.1896G>C (p.Glu632Asp)
c.1386G>C (p.Glu462Asp)
c.1563G>C (p.Glu521Asp)
c.1557G>C (p.Glu519Asp)
c.1098G>C (p.Glu366Asp)
c.627G>C (p.Glu209Asp)
n.2059G>C
n.2226G>C
c.1974G>C (p.Glu658Asp)
c.666G>C (p.Glu222Asp)
n.2276G>C
n.2249G>C
8g.141168380G>TCA372344283DENND3c.2130G>T (p.Glu710Asp)
c.1890G>T (p.Glu630Asp)
c.1734G>T (p.Glu578Asp)
c.1903G>T
n.1671G>T
c.1929G>T (p.Glu643Asp)
c.1773G>T (p.Glu591Asp)
c.1896G>T (p.Glu632Asp)
c.1386G>T (p.Glu462Asp)
c.1563G>T (p.Glu521Asp)
c.1557G>T (p.Glu519Asp)
c.1098G>T (p.Glu366Asp)
c.627G>T (p.Glu209Asp)
n.2059G>T
n.2226G>T
c.1974G>T (p.Glu658Asp)
c.666G>T (p.Glu222Asp)
n.2276G>T
n.2249G>T
8g.141168381G>ACA372344284DENND3c.2131G>A (p.Ala711Thr)
c.1891G>A (p.Ala631Thr)
c.1735G>A (p.Ala579Thr)
c.1904G>A
n.1672G>A
c.1930G>A (p.Ala644Thr)
c.1774G>A (p.Ala592Thr)
c.1897G>A (p.Ala633Thr)
c.1387G>A (p.Ala463Thr)
c.1564G>A (p.Ala522Thr)
c.1558G>A (p.Ala520Thr)
c.1099G>A (p.Ala367Thr)
c.628G>A (p.Ala210Thr)
n.2060G>A
n.2227G>A
c.1975G>A (p.Ala659Thr)
c.667G>A (p.Ala223Thr)
n.2277G>A
n.2250G>A
8g.141168381G>CCA372344285DENND3c.2131G>C (p.Ala711Pro)
c.1891G>C (p.Ala631Pro)
c.1735G>C (p.Ala579Pro)
c.1904G>C
n.1672G>C
c.1930G>C (p.Ala644Pro)
c.1774G>C (p.Ala592Pro)
c.1897G>C (p.Ala633Pro)
c.1387G>C (p.Ala463Pro)
c.1564G>C (p.Ala522Pro)
c.1558G>C (p.Ala520Pro)
c.1099G>C (p.Ala367Pro)
c.628G>C (p.Ala210Pro)
n.2060G>C
n.2227G>C
c.1975G>C (p.Ala659Pro)
c.667G>C (p.Ala223Pro)
n.2277G>C
n.2250G>C
8g.141168381G>TCA372344286DENND3c.2131G>T (p.Ala711Ser)
c.1891G>T (p.Ala631Ser)
c.1735G>T (p.Ala579Ser)
c.1904G>T
n.1672G>T
c.1930G>T (p.Ala644Ser)
c.1774G>T (p.Ala592Ser)
c.1897G>T (p.Ala633Ser)
c.1387G>T (p.Ala463Ser)
c.1564G>T (p.Ala522Ser)
c.1558G>T (p.Ala520Ser)
c.1099G>T (p.Ala367Ser)
c.628G>T (p.Ala210Ser)
n.2060G>T
n.2227G>T
c.1975G>T (p.Ala659Ser)
c.667G>T (p.Ala223Ser)
n.2277G>T
n.2250G>T
8g.141168382C>ACA372344289DENND3c.2132C>A (p.Ala711Asp)
c.1892C>A (p.Ala631Asp)
c.1736C>A (p.Ala579Asp)
c.1905C>A
n.1673C>A
c.1931C>A (p.Ala644Asp)
c.1775C>A (p.Ala592Asp)
c.1898C>A (p.Ala633Asp)
c.1388C>A (p.Ala463Asp)
c.1565C>A (p.Ala522Asp)
c.1559C>A (p.Ala520Asp)
c.1100C>A (p.Ala367Asp)
c.629C>A (p.Ala210Asp)
n.2061C>A
n.2228C>A
c.1976C>A (p.Ala659Asp)
c.668C>A (p.Ala223Asp)
n.2278C>A
n.2251C>A
8g.141168382C>GCA372344288DENND3c.2132C>G (p.Ala711Gly)
c.1892C>G (p.Ala631Gly)
c.1736C>G (p.Ala579Gly)
c.1905C>G
n.1673C>G
c.1931C>G (p.Ala644Gly)
c.1775C>G (p.Ala592Gly)
c.1898C>G (p.Ala633Gly)
c.1388C>G (p.Ala463Gly)
c.1565C>G (p.Ala522Gly)
c.1559C>G (p.Ala520Gly)
c.1100C>G (p.Ala367Gly)
c.629C>G (p.Ala210Gly)
n.2061C>G
n.2228C>G
c.1976C>G (p.Ala659Gly)
c.668C>G (p.Ala223Gly)
n.2278C>G
n.2251C>G
8g.141168382C>TCA372344287DENND3c.2132C>T (p.Ala711Val)
c.1892C>T (p.Ala631Val)
c.1736C>T (p.Ala579Val)
c.1905C>T
n.1673C>T
c.1931C>T (p.Ala644Val)
c.1775C>T (p.Ala592Val)
c.1898C>T (p.Ala633Val)
c.1388C>T (p.Ala463Val)
c.1565C>T (p.Ala522Val)
c.1559C>T (p.Ala520Val)
c.1100C>T (p.Ala367Val)
c.629C>T (p.Ala210Val)
n.2061C>T
n.2228C>T
c.1976C>T (p.Ala659Val)
c.668C>T (p.Ala223Val)
n.2278C>T
n.2251C>T
8g.141168383C>ACA463496973DENND3c.2133C>A (p.Ala711=)
c.1893C>A (p.Ala631=)
c.1737C>A (p.Ala579=)
c.1906C>A
n.1674C>A
c.1932C>A (p.Ala644=)
c.1776C>A (p.Ala592=)
c.1899C>A (p.Ala633=)
c.1389C>A (p.Ala463=)
c.1566C>A (p.Ala522=)
c.1560C>A (p.Ala520=)
c.1101C>A (p.Ala367=)
c.630C>A (p.Ala210=)
n.2062C>A
n.2229C>A
c.1977C>A (p.Ala659=)
c.669C>A (p.Ala223=)
n.2279C>A
n.2252C>A
8g.141168383C>GCA463496974DENND3c.2133C>G (p.Ala711=)
c.1893C>G (p.Ala631=)
c.1737C>G (p.Ala579=)
c.1906C>G
n.1674C>G
c.1932C>G (p.Ala644=)
c.1776C>G (p.Ala592=)
c.1899C>G (p.Ala633=)
c.1389C>G (p.Ala463=)
c.1566C>G (p.Ala522=)
c.1560C>G (p.Ala520=)
c.1101C>G (p.Ala367=)
c.630C>G (p.Ala210=)
n.2062C>G
n.2229C>G
c.1977C>G (p.Ala659=)
c.669C>G (p.Ala223=)
n.2279C>G
n.2252C>G
 dbSNP gnomAD v4
8g.141168383C>TCA463496975DENND3c.2133C>T (p.Ala711=)
c.1893C>T (p.Ala631=)
c.1737C>T (p.Ala579=)
c.1906C>T
n.1674C>T
c.1932C>T (p.Ala644=)
c.1776C>T (p.Ala592=)
c.1899C>T (p.Ala633=)
c.1389C>T (p.Ala463=)
c.1566C>T (p.Ala522=)
c.1560C>T (p.Ala520=)
c.1101C>T (p.Ala367=)
c.630C>T (p.Ala210=)
n.2062C>T
n.2229C>T
c.1977C>T (p.Ala659=)
c.669C>T (p.Ala223=)
n.2279C>T
n.2252C>T
8g.141168384T>ACA372344290DENND3c.2134T>A (p.Ser712Thr)
c.1894T>A (p.Ser632Thr)
c.1738T>A (p.Ser580Thr)
c.1907T>A
n.1675T>A
c.1933T>A (p.Ser645Thr)
c.1777T>A (p.Ser593Thr)
c.1900T>A (p.Ser634Thr)
c.1390T>A (p.Ser464Thr)
c.1567T>A (p.Ser523Thr)
c.1561T>A (p.Ser521Thr)
c.1102T>A (p.Ser368Thr)
c.631T>A (p.Ser211Thr)
n.2063T>A
n.2230T>A
c.1978T>A (p.Ser660Thr)
c.670T>A (p.Ser224Thr)
n.2280T>A
n.2253T>A
8g.141168384T>CCA372344291DENND3c.2134T>C (p.Ser712Pro)
c.1894T>C (p.Ser632Pro)
c.1738T>C (p.Ser580Pro)
c.1907T>C
n.1675T>C
c.1933T>C (p.Ser645Pro)
c.1777T>C (p.Ser593Pro)
c.1900T>C (p.Ser634Pro)
c.1390T>C (p.Ser464Pro)
c.1567T>C (p.Ser523Pro)
c.1561T>C (p.Ser521Pro)
c.1102T>C (p.Ser368Pro)
c.631T>C (p.Ser211Pro)
n.2063T>C
n.2230T>C
c.1978T>C (p.Ser660Pro)
c.670T>C (p.Ser224Pro)
n.2280T>C
n.2253T>C
8g.141168384T>GCA372344292DENND3c.2134T>G (p.Ser712Ala)
c.1894T>G (p.Ser632Ala)
c.1738T>G (p.Ser580Ala)
c.1907T>G
n.1675T>G
c.1933T>G (p.Ser645Ala)
c.1777T>G (p.Ser593Ala)
c.1900T>G (p.Ser634Ala)
c.1390T>G (p.Ser464Ala)
c.1567T>G (p.Ser523Ala)
c.1561T>G (p.Ser521Ala)
c.1102T>G (p.Ser368Ala)
c.631T>G (p.Ser211Ala)
n.2063T>G
n.2230T>G
c.1978T>G (p.Ser660Ala)
c.670T>G (p.Ser224Ala)
n.2280T>G
n.2253T>G
8g.141168385C>ACA372344293DENND3c.2135C>A (p.Ser712Ter)
c.1895C>A (p.Ser632Ter)
c.1739C>A (p.Ser580Ter)
c.1908C>A
n.1676C>A
c.1934C>A (p.Ser645Ter)
c.1778C>A (p.Ser593Ter)
c.1901C>A (p.Ser634Ter)
c.1391C>A (p.Ser464Ter)
c.1568C>A (p.Ser523Ter)
c.1562C>A (p.Ser521Ter)
c.1103C>A (p.Ser368Ter)
c.632C>A (p.Ser211Ter)
n.2064C>A
n.2231C>A
c.1979C>A (p.Ser660Ter)
c.671C>A (p.Ser224Ter)
n.2281C>A
n.2254C>A
8g.141168385C>GCA372344294DENND3c.2135C>G (p.Ser712Trp)
c.1895C>G (p.Ser632Trp)
c.1739C>G (p.Ser580Trp)
c.1908C>G
n.1676C>G
c.1934C>G (p.Ser645Trp)
c.1778C>G (p.Ser593Trp)
c.1901C>G (p.Ser634Trp)
c.1391C>G (p.Ser464Trp)
c.1568C>G (p.Ser523Trp)
c.1562C>G (p.Ser521Trp)
c.1103C>G (p.Ser368Trp)
c.632C>G (p.Ser211Trp)
n.2064C>G
n.2231C>G
c.1979C>G (p.Ser660Trp)
c.671C>G (p.Ser224Trp)
n.2281C>G
n.2254C>G
8g.141168385C>TCA187325801DENND3c.2135C>T (p.Ser712Leu)
c.1895C>T (p.Ser632Leu)
c.1739C>T (p.Ser580Leu)
c.1908C>T
n.1676C>T
c.1934C>T (p.Ser645Leu)
c.1778C>T (p.Ser593Leu)
c.1901C>T (p.Ser634Leu)
c.1391C>T (p.Ser464Leu)
c.1568C>T (p.Ser523Leu)
c.1562C>T (p.Ser521Leu)
c.1103C>T (p.Ser368Leu)
c.632C>T (p.Ser211Leu)
n.2064C>T
n.2231C>T
c.1979C>T (p.Ser660Leu)
c.671C>T (p.Ser224Leu)
n.2281C>T
n.2254C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168386G>ACA4896812DENND3c.2136G>A (p.Ser712=)
c.1896G>A (p.Ser632=)
c.1740G>A (p.Ser580=)
c.1909G>A
n.1677G>A
c.1935G>A (p.Ser645=)
c.1779G>A (p.Ser593=)
c.1902G>A (p.Ser634=)
c.1392G>A (p.Ser464=)
c.1569G>A (p.Ser523=)
c.1563G>A (p.Ser521=)
c.1104G>A (p.Ser368=)
c.633G>A (p.Ser211=)
n.2065G>A
n.2232G>A
c.1980G>A (p.Ser660=)
c.672G>A (p.Ser224=)
n.2282G>A
n.2255G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168386G>CCA463496976DENND3c.2136G>C (p.Ser712=)
c.1896G>C (p.Ser632=)
c.1740G>C (p.Ser580=)
c.1909G>C
n.1677G>C
c.1935G>C (p.Ser645=)
c.1779G>C (p.Ser593=)
c.1902G>C (p.Ser634=)
c.1392G>C (p.Ser464=)
c.1569G>C (p.Ser523=)
c.1563G>C (p.Ser521=)
c.1104G>C (p.Ser368=)
c.633G>C (p.Ser211=)
n.2065G>C
n.2232G>C
c.1980G>C (p.Ser660=)
c.672G>C (p.Ser224=)
n.2282G>C
n.2255G>C
 gnomAD v4
8g.141168386G>TCA463496977DENND3c.2136G>T (p.Ser712=)
c.1896G>T (p.Ser632=)
c.1740G>T (p.Ser580=)
c.1909G>T
n.1677G>T
c.1935G>T (p.Ser645=)
c.1779G>T (p.Ser593=)
c.1902G>T (p.Ser634=)
c.1392G>T (p.Ser464=)
c.1569G>T (p.Ser523=)
c.1563G>T (p.Ser521=)
c.1104G>T (p.Ser368=)
c.633G>T (p.Ser211=)
n.2065G>T
n.2232G>T
c.1980G>T (p.Ser660=)
c.672G>T (p.Ser224=)
n.2282G>T
n.2255G>T
8g.141168387A>CCA372344295DENND3c.2137A>C (p.Lys713Gln)
c.1897A>C (p.Lys633Gln)
c.1741A>C (p.Lys581Gln)
c.1910A>C
n.1678A>C
c.1936A>C (p.Lys646Gln)
c.1780A>C (p.Lys594Gln)
c.1903A>C (p.Lys635Gln)
c.1393A>C (p.Lys465Gln)
c.1570A>C (p.Lys524Gln)
c.1564A>C (p.Lys522Gln)
c.1105A>C (p.Lys369Gln)
c.634A>C (p.Lys212Gln)
n.2066A>C
n.2233A>C
c.1981A>C (p.Lys661Gln)
c.673A>C (p.Lys225Gln)
n.2283A>C
n.2256A>C
8g.141168387A>GCA372344296DENND3c.2137A>G (p.Lys713Glu)
c.1897A>G (p.Lys633Glu)
c.1741A>G (p.Lys581Glu)
c.1910A>G
n.1678A>G
c.1936A>G (p.Lys646Glu)
c.1780A>G (p.Lys594Glu)
c.1903A>G (p.Lys635Glu)
c.1393A>G (p.Lys465Glu)
c.1570A>G (p.Lys524Glu)
c.1564A>G (p.Lys522Glu)
c.1105A>G (p.Lys369Glu)
c.634A>G (p.Lys212Glu)
n.2066A>G
n.2233A>G
c.1981A>G (p.Lys661Glu)
c.673A>G (p.Lys225Glu)
n.2283A>G
n.2256A>G
8g.141168387A>TCA372344297DENND3c.2137A>T (p.Lys713Ter)
c.1897A>T (p.Lys633Ter)
c.1741A>T (p.Lys581Ter)
c.1910A>T
n.1678A>T
c.1936A>T (p.Lys646Ter)
c.1780A>T (p.Lys594Ter)
c.1903A>T (p.Lys635Ter)
c.1393A>T (p.Lys465Ter)
c.1570A>T (p.Lys524Ter)
c.1564A>T (p.Lys522Ter)
c.1105A>T (p.Lys369Ter)
c.634A>T (p.Lys212Ter)
n.2066A>T
n.2233A>T
c.1981A>T (p.Lys661Ter)
c.673A>T (p.Lys225Ter)
n.2283A>T
n.2256A>T
8g.141168393_141168419delCA2688780424DENND3c.2143_2169del (p.Asp715_Leu723del)
c.1903_1929del (p.Asp635_Leu643del)
c.1747_1773del (p.Asp583_Leu591del)
c.1916_1942del
n.1684_1710del
c.1942_1968del (p.Asp648_Leu656del)
c.1786_1812del (p.Asp596_Leu604del)
c.1909_1935del (p.Asp637_Leu645del)
c.1399_1425del (p.Asp467_Leu475del)
c.1576_1602del (p.Asp526_Leu534del)
c.1570_1596del (p.Asp524_Leu532del)
c.1111_1137del (p.Asp371_Leu379del)
c.640_666del (p.Asp214_Leu222del)
n.2072_2098del
n.2239_2265del
c.1987_2013del (p.Asp663_Leu671del)
c.679_705del (p.Asp227_Leu235del)
n.2289_2315del
n.2262_2288del
 gnomAD v4
8g.141168388A>CCA372344298DENND3c.2138A>C (p.Lys713Thr)
c.1898A>C (p.Lys633Thr)
c.1742A>C (p.Lys581Thr)
c.1911A>C
n.1679A>C
c.1937A>C (p.Lys646Thr)
c.1781A>C (p.Lys594Thr)
c.1904A>C (p.Lys635Thr)
c.1394A>C (p.Lys465Thr)
c.1571A>C (p.Lys524Thr)
c.1565A>C (p.Lys522Thr)
c.1106A>C (p.Lys369Thr)
c.635A>C (p.Lys212Thr)
n.2067A>C
n.2234A>C
c.1982A>C (p.Lys661Thr)
c.674A>C (p.Lys225Thr)
n.2284A>C
n.2257A>C
8g.141168388A>GCA372344299DENND3c.2138A>G (p.Lys713Arg)
c.1898A>G (p.Lys633Arg)
c.1742A>G (p.Lys581Arg)
c.1911A>G
n.1679A>G
c.1937A>G (p.Lys646Arg)
c.1781A>G (p.Lys594Arg)
c.1904A>G (p.Lys635Arg)
c.1394A>G (p.Lys465Arg)
c.1571A>G (p.Lys524Arg)
c.1565A>G (p.Lys522Arg)
c.1106A>G (p.Lys369Arg)
c.635A>G (p.Lys212Arg)
n.2067A>G
n.2234A>G
c.1982A>G (p.Lys661Arg)
c.674A>G (p.Lys225Arg)
n.2284A>G
n.2257A>G
 dbSNP
8g.141168388A>TCA372344300DENND3c.2138A>T (p.Lys713Met)
c.1898A>T (p.Lys633Met)
c.1742A>T (p.Lys581Met)
c.1911A>T
n.1679A>T
c.1937A>T (p.Lys646Met)
c.1781A>T (p.Lys594Met)
c.1904A>T (p.Lys635Met)
c.1394A>T (p.Lys465Met)
c.1571A>T (p.Lys524Met)
c.1565A>T (p.Lys522Met)
c.1106A>T (p.Lys369Met)
c.635A>T (p.Lys212Met)
n.2067A>T
n.2234A>T
c.1982A>T (p.Lys661Met)
c.674A>T (p.Lys225Met)
n.2284A>T
n.2257A>T
8g.141168389G>ACA463496978DENND3c.2139G>A (p.Lys713=)
c.1899G>A (p.Lys633=)
c.1743G>A (p.Lys581=)
c.1912G>A
n.1680G>A
c.1938G>A (p.Lys646=)
c.1782G>A (p.Lys594=)
c.1905G>A (p.Lys635=)
c.1395G>A (p.Lys465=)
c.1572G>A (p.Lys524=)
c.1566G>A (p.Lys522=)
c.1107G>A (p.Lys369=)
c.636G>A (p.Lys212=)
n.2068G>A
n.2235G>A
c.1983G>A (p.Lys661=)
c.675G>A (p.Lys225=)
n.2285G>A
n.2258G>A
 dbSNP
8g.141168389G>CCA372344301DENND3c.2139G>C (p.Lys713Asn)
c.1899G>C (p.Lys633Asn)
c.1743G>C (p.Lys581Asn)
c.1912G>C
n.1680G>C
c.1938G>C (p.Lys646Asn)
c.1782G>C (p.Lys594Asn)
c.1905G>C (p.Lys635Asn)
c.1395G>C (p.Lys465Asn)
c.1572G>C (p.Lys524Asn)
c.1566G>C (p.Lys522Asn)
c.1107G>C (p.Lys369Asn)
c.636G>C (p.Lys212Asn)
n.2068G>C
n.2235G>C
c.1983G>C (p.Lys661Asn)
c.675G>C (p.Lys225Asn)
n.2285G>C
n.2258G>C
8g.141168389G>TCA372344302DENND3c.2139G>T (p.Lys713Asn)
c.1899G>T (p.Lys633Asn)
c.1743G>T (p.Lys581Asn)
c.1912G>T
n.1680G>T
c.1938G>T (p.Lys646Asn)
c.1782G>T (p.Lys594Asn)
c.1905G>T (p.Lys635Asn)
c.1395G>T (p.Lys465Asn)
c.1572G>T (p.Lys524Asn)
c.1566G>T (p.Lys522Asn)
c.1107G>T (p.Lys369Asn)
c.636G>T (p.Lys212Asn)
n.2068G>T
n.2235G>T
c.1983G>T (p.Lys661Asn)
c.675G>T (p.Lys225Asn)
n.2285G>T
n.2258G>T
8g.141168390C>ACA372344303DENND3c.2140C>A (p.Leu714Met)
c.1900C>A (p.Leu634Met)
c.1744C>A (p.Leu582Met)
c.1913C>A
n.1681C>A
c.1939C>A (p.Leu647Met)
c.1783C>A (p.Leu595Met)
c.1906C>A (p.Leu636Met)
c.1396C>A (p.Leu466Met)
c.1573C>A (p.Leu525Met)
c.1567C>A (p.Leu523Met)
c.1108C>A (p.Leu370Met)
c.637C>A (p.Leu213Met)
n.2069C>A
n.2236C>A
c.1984C>A (p.Leu662Met)
c.676C>A (p.Leu226Met)
n.2286C>A
n.2259C>A
8g.141168390C>GCA372344304DENND3c.2140C>G (p.Leu714Val)
c.1900C>G (p.Leu634Val)
c.1744C>G (p.Leu582Val)
c.1913C>G
n.1681C>G
c.1939C>G (p.Leu647Val)
c.1783C>G (p.Leu595Val)
c.1906C>G (p.Leu636Val)
c.1396C>G (p.Leu466Val)
c.1573C>G (p.Leu525Val)
c.1567C>G (p.Leu523Val)
c.1108C>G (p.Leu370Val)
c.637C>G (p.Leu213Val)
n.2069C>G
n.2236C>G
c.1984C>G (p.Leu662Val)
c.676C>G (p.Leu226Val)
n.2286C>G
n.2259C>G
8g.141168390C>TCA463496979DENND3c.2140C>T (p.Leu714=)
c.1900C>T (p.Leu634=)
c.1744C>T (p.Leu582=)
c.1913C>T
n.1681C>T
c.1939C>T (p.Leu647=)
c.1783C>T (p.Leu595=)
c.1906C>T (p.Leu636=)
c.1396C>T (p.Leu466=)
c.1573C>T (p.Leu525=)
c.1567C>T (p.Leu523=)
c.1108C>T (p.Leu370=)
c.637C>T (p.Leu213=)
n.2069C>T
n.2236C>T
c.1984C>T (p.Leu662=)
c.676C>T (p.Leu226=)
n.2286C>T
n.2259C>T
8g.141168391T>ACA372344305DENND3c.2141T>A (p.Leu714Gln)
c.1901T>A (p.Leu634Gln)
c.1745T>A (p.Leu582Gln)
c.1914T>A
n.1682T>A
c.1940T>A (p.Leu647Gln)
c.1784T>A (p.Leu595Gln)
c.1907T>A (p.Leu636Gln)
c.1397T>A (p.Leu466Gln)
c.1574T>A (p.Leu525Gln)
c.1568T>A (p.Leu523Gln)
c.1109T>A (p.Leu370Gln)
c.638T>A (p.Leu213Gln)
n.2070T>A
n.2237T>A
c.1985T>A (p.Leu662Gln)
c.677T>A (p.Leu226Gln)
n.2287T>A
n.2260T>A
8g.141168391T>CCA372344306DENND3c.2141T>C (p.Leu714Pro)
c.1901T>C (p.Leu634Pro)
c.1745T>C (p.Leu582Pro)
c.1914T>C
n.1682T>C
c.1940T>C (p.Leu647Pro)
c.1784T>C (p.Leu595Pro)
c.1907T>C (p.Leu636Pro)
c.1397T>C (p.Leu466Pro)
c.1574T>C (p.Leu525Pro)
c.1568T>C (p.Leu523Pro)
c.1109T>C (p.Leu370Pro)
c.638T>C (p.Leu213Pro)
n.2070T>C
n.2237T>C
c.1985T>C (p.Leu662Pro)
c.677T>C (p.Leu226Pro)
n.2287T>C
n.2260T>C
8g.141168391T>GCA372344307DENND3c.2141T>G (p.Leu714Arg)
c.1901T>G (p.Leu634Arg)
c.1745T>G (p.Leu582Arg)
c.1914T>G
n.1682T>G
c.1940T>G (p.Leu647Arg)
c.1784T>G (p.Leu595Arg)
c.1907T>G (p.Leu636Arg)
c.1397T>G (p.Leu466Arg)
c.1574T>G (p.Leu525Arg)
c.1568T>G (p.Leu523Arg)
c.1109T>G (p.Leu370Arg)
c.638T>G (p.Leu213Arg)
n.2070T>G
n.2237T>G
c.1985T>G (p.Leu662Arg)
c.677T>G (p.Leu226Arg)
n.2287T>G
n.2260T>G
 gnomAD v4
8g.141168392G>ACA463496980DENND3c.2142G>A (p.Leu714=)
c.1902G>A (p.Leu634=)
c.1746G>A (p.Leu582=)
c.1915G>A
n.1683G>A
c.1941G>A (p.Leu647=)
c.1785G>A (p.Leu595=)
c.1908G>A (p.Leu636=)
c.1398G>A (p.Leu466=)
c.1575G>A (p.Leu525=)
c.1569G>A (p.Leu523=)
c.1110G>A (p.Leu370=)
c.639G>A (p.Leu213=)
n.2071G>A
n.2238G>A
c.1986G>A (p.Leu662=)
c.678G>A (p.Leu226=)
n.2288G>A
n.2261G>A
8g.141168392G>CCA463496981DENND3c.2142G>C (p.Leu714=)
c.1902G>C (p.Leu634=)
c.1746G>C (p.Leu582=)
c.1915G>C
n.1683G>C
c.1941G>C (p.Leu647=)
c.1785G>C (p.Leu595=)
c.1908G>C (p.Leu636=)
c.1398G>C (p.Leu466=)
c.1575G>C (p.Leu525=)
c.1569G>C (p.Leu523=)
c.1110G>C (p.Leu370=)
c.639G>C (p.Leu213=)
n.2071G>C
n.2238G>C
c.1986G>C (p.Leu662=)
c.678G>C (p.Leu226=)
n.2288G>C
n.2261G>C
8g.141168392G>TCA463496982DENND3c.2142G>T (p.Leu714=)
c.1902G>T (p.Leu634=)
c.1746G>T (p.Leu582=)
c.1915G>T
n.1683G>T
c.1941G>T (p.Leu647=)
c.1785G>T (p.Leu595=)
c.1908G>T (p.Leu636=)
c.1398G>T (p.Leu466=)
c.1575G>T (p.Leu525=)
c.1569G>T (p.Leu523=)
c.1110G>T (p.Leu370=)
c.639G>T (p.Leu213=)
n.2071G>T
n.2238G>T
c.1986G>T (p.Leu662=)
c.678G>T (p.Leu226=)
n.2288G>T
n.2261G>T
8g.141168393G>ACA372344308DENND3c.2143G>A (p.Asp715Asn)
c.1903G>A (p.Asp635Asn)
c.1747G>A (p.Asp583Asn)
c.1916G>A
n.1684G>A
c.1942G>A (p.Asp648Asn)
c.1786G>A (p.Asp596Asn)
c.1909G>A (p.Asp637Asn)
c.1399G>A (p.Asp467Asn)
c.1576G>A (p.Asp526Asn)
c.1570G>A (p.Asp524Asn)
c.1111G>A (p.Asp371Asn)
c.640G>A (p.Asp214Asn)
n.2072G>A
n.2239G>A
c.1987G>A (p.Asp663Asn)
c.679G>A (p.Asp227Asn)
n.2289G>A
n.2262G>A
 gnomAD v4
8g.141168393G>CCA372344309DENND3c.2143G>C (p.Asp715His)
c.1903G>C (p.Asp635His)
c.1747G>C (p.Asp583His)
c.1916G>C
n.1684G>C
c.1942G>C (p.Asp648His)
c.1786G>C (p.Asp596His)
c.1909G>C (p.Asp637His)
c.1399G>C (p.Asp467His)
c.1576G>C (p.Asp526His)
c.1570G>C (p.Asp524His)
c.1111G>C (p.Asp371His)
c.640G>C (p.Asp214His)
n.2072G>C
n.2239G>C
c.1987G>C (p.Asp663His)
c.679G>C (p.Asp227His)
n.2289G>C
n.2262G>C
8g.141168393G>TCA372344310DENND3c.2143G>T (p.Asp715Tyr)
c.1903G>T (p.Asp635Tyr)
c.1747G>T (p.Asp583Tyr)
c.1916G>T
n.1684G>T
c.1942G>T (p.Asp648Tyr)
c.1786G>T (p.Asp596Tyr)
c.1909G>T (p.Asp637Tyr)
c.1399G>T (p.Asp467Tyr)
c.1576G>T (p.Asp526Tyr)
c.1570G>T (p.Asp524Tyr)
c.1111G>T (p.Asp371Tyr)
c.640G>T (p.Asp214Tyr)
n.2072G>T
n.2239G>T
c.1987G>T (p.Asp663Tyr)
c.679G>T (p.Asp227Tyr)
n.2289G>T
n.2262G>T
8g.141168394A>CCA372344311DENND3c.2144A>C (p.Asp715Ala)
c.1904A>C (p.Asp635Ala)
c.1748A>C (p.Asp583Ala)
c.1917A>C
n.1685A>C
c.1943A>C (p.Asp648Ala)
c.1787A>C (p.Asp596Ala)
c.1910A>C (p.Asp637Ala)
c.1400A>C (p.Asp467Ala)
c.1577A>C (p.Asp526Ala)
c.1571A>C (p.Asp524Ala)
c.1112A>C (p.Asp371Ala)
c.641A>C (p.Asp214Ala)
n.2073A>C
n.2240A>C
c.1988A>C (p.Asp663Ala)
c.680A>C (p.Asp227Ala)
n.2290A>C
n.2263A>C
 gnomAD v4
8g.141168394A>GCA372344312DENND3c.2144A>G (p.Asp715Gly)
c.1904A>G (p.Asp635Gly)
c.1748A>G (p.Asp583Gly)
c.1917A>G
n.1685A>G
c.1943A>G (p.Asp648Gly)
c.1787A>G (p.Asp596Gly)
c.1910A>G (p.Asp637Gly)
c.1400A>G (p.Asp467Gly)
c.1577A>G (p.Asp526Gly)
c.1571A>G (p.Asp524Gly)
c.1112A>G (p.Asp371Gly)
c.641A>G (p.Asp214Gly)
n.2073A>G
n.2240A>G
c.1988A>G (p.Asp663Gly)
c.680A>G (p.Asp227Gly)
n.2290A>G
n.2263A>G
 dbSNP
8g.141168394A>TCA372344313DENND3c.2144A>T (p.Asp715Val)
c.1904A>T (p.Asp635Val)
c.1748A>T (p.Asp583Val)
c.1917A>T
n.1685A>T
c.1943A>T (p.Asp648Val)
c.1787A>T (p.Asp596Val)
c.1910A>T (p.Asp637Val)
c.1400A>T (p.Asp467Val)
c.1577A>T (p.Asp526Val)
c.1571A>T (p.Asp524Val)
c.1112A>T (p.Asp371Val)
c.641A>T (p.Asp214Val)
n.2073A>T
n.2240A>T
c.1988A>T (p.Asp663Val)
c.680A>T (p.Asp227Val)
n.2290A>T
n.2263A>T
8g.141168395C>ACA4896814DENND3c.2145C>A (p.Asp715Glu)
c.1905C>A (p.Asp635Glu)
c.1749C>A (p.Asp583Glu)
c.1918C>A
n.1686C>A
c.1944C>A (p.Asp648Glu)
c.1788C>A (p.Asp596Glu)
c.1911C>A (p.Asp637Glu)
c.1401C>A (p.Asp467Glu)
c.1578C>A (p.Asp526Glu)
c.1572C>A (p.Asp524Glu)
c.1113C>A (p.Asp371Glu)
c.642C>A (p.Asp214Glu)
n.2074C>A
n.2241C>A
c.1989C>A (p.Asp663Glu)
c.681C>A (p.Asp227Glu)
n.2291C>A
n.2264C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168395C>GCA372344314DENND3c.2145C>G (p.Asp715Glu)
c.1905C>G (p.Asp635Glu)
c.1749C>G (p.Asp583Glu)
c.1918C>G
n.1686C>G
c.1944C>G (p.Asp648Glu)
c.1788C>G (p.Asp596Glu)
c.1911C>G (p.Asp637Glu)
c.1401C>G (p.Asp467Glu)
c.1578C>G (p.Asp526Glu)
c.1572C>G (p.Asp524Glu)
c.1113C>G (p.Asp371Glu)
c.642C>G (p.Asp214Glu)
n.2074C>G
n.2241C>G
c.1989C>G (p.Asp663Glu)
c.681C>G (p.Asp227Glu)
n.2291C>G
n.2264C>G
8g.141168395C>TCA4896813DENND3c.2145C>T (p.Asp715=)
c.1905C>T (p.Asp635=)
c.1749C>T (p.Asp583=)
c.1918C>T
n.1686C>T
c.1944C>T (p.Asp648=)
c.1788C>T (p.Asp596=)
c.1911C>T (p.Asp637=)
c.1401C>T (p.Asp467=)
c.1578C>T (p.Asp526=)
c.1572C>T (p.Asp524=)
c.1113C>T (p.Asp371=)
c.642C>T (p.Asp214=)
n.2074C>T
n.2241C>T
c.1989C>T (p.Asp663=)
c.681C>T (p.Asp227=)
n.2291C>T
n.2264C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168396G>ACA372344315DENND3c.2146G>A (p.Asp716Asn)
c.1906G>A (p.Asp636Asn)
c.1750G>A (p.Asp584Asn)
c.1919G>A
n.1687G>A
c.1945G>A (p.Asp649Asn)
c.1789G>A (p.Asp597Asn)
c.1912G>A (p.Asp638Asn)
c.1402G>A (p.Asp468Asn)
c.1579G>A (p.Asp527Asn)
c.1573G>A (p.Asp525Asn)
c.1114G>A (p.Asp372Asn)
c.643G>A (p.Asp215Asn)
n.2075G>A
n.2242G>A
c.1990G>A (p.Asp664Asn)
c.682G>A (p.Asp228Asn)
n.2292G>A
n.2265G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.141168396G>CCA372344317DENND3c.2146G>C (p.Asp716His)
c.1906G>C (p.Asp636His)
c.1750G>C (p.Asp584His)
c.1919G>C
n.1687G>C
c.1945G>C (p.Asp649His)
c.1789G>C (p.Asp597His)
c.1912G>C (p.Asp638His)
c.1402G>C (p.Asp468His)
c.1579G>C (p.Asp527His)
c.1573G>C (p.Asp525His)
c.1114G>C (p.Asp372His)
c.643G>C (p.Asp215His)
n.2075G>C
n.2242G>C
c.1990G>C (p.Asp664His)
c.682G>C (p.Asp228His)
n.2292G>C
n.2265G>C
8g.141168396G>TCA372344316DENND3c.2146G>T (p.Asp716Tyr)
c.1906G>T (p.Asp636Tyr)
c.1750G>T (p.Asp584Tyr)
c.1919G>T
n.1687G>T
c.1945G>T (p.Asp649Tyr)
c.1789G>T (p.Asp597Tyr)
c.1912G>T (p.Asp638Tyr)
c.1402G>T (p.Asp468Tyr)
c.1579G>T (p.Asp527Tyr)
c.1573G>T (p.Asp525Tyr)
c.1114G>T (p.Asp372Tyr)
c.643G>T (p.Asp215Tyr)
n.2075G>T
n.2242G>T
c.1990G>T (p.Asp664Tyr)
c.682G>T (p.Asp228Tyr)
n.2292G>T
n.2265G>T
8g.141168397A>CCA372344318DENND3c.2147A>C (p.Asp716Ala)
c.1907A>C (p.Asp636Ala)
c.1751A>C (p.Asp584Ala)
c.1920A>C
n.1688A>C
c.1946A>C (p.Asp649Ala)
c.1790A>C (p.Asp597Ala)
c.1913A>C (p.Asp638Ala)
c.1403A>C (p.Asp468Ala)
c.1580A>C (p.Asp527Ala)
c.1574A>C (p.Asp525Ala)
c.1115A>C (p.Asp372Ala)
c.644A>C (p.Asp215Ala)
n.2076A>C
n.2243A>C
c.1991A>C (p.Asp664Ala)
c.683A>C (p.Asp228Ala)
n.2293A>C
n.2266A>C
8g.141168397A>GCA372344319DENND3c.2147A>G (p.Asp716Gly)
c.1907A>G (p.Asp636Gly)
c.1751A>G (p.Asp584Gly)
c.1920A>G
n.1688A>G
c.1946A>G (p.Asp649Gly)
c.1790A>G (p.Asp597Gly)
c.1913A>G (p.Asp638Gly)
c.1403A>G (p.Asp468Gly)
c.1580A>G (p.Asp527Gly)
c.1574A>G (p.Asp525Gly)
c.1115A>G (p.Asp372Gly)
c.644A>G (p.Asp215Gly)
n.2076A>G
n.2243A>G
c.1991A>G (p.Asp664Gly)
c.683A>G (p.Asp228Gly)
n.2293A>G
n.2266A>G
 gnomAD v4
8g.141168397A>TCA372344320DENND3c.2147A>T (p.Asp716Val)
c.1907A>T (p.Asp636Val)
c.1751A>T (p.Asp584Val)
c.1920A>T
n.1688A>T
c.1946A>T (p.Asp649Val)
c.1790A>T (p.Asp597Val)
c.1913A>T (p.Asp638Val)
c.1403A>T (p.Asp468Val)
c.1580A>T (p.Asp527Val)
c.1574A>T (p.Asp525Val)
c.1115A>T (p.Asp372Val)
c.644A>T (p.Asp215Val)
n.2076A>T
n.2243A>T
c.1991A>T (p.Asp664Val)
c.683A>T (p.Asp228Val)
n.2293A>T
n.2266A>T
8g.141168398C>ACA372344321DENND3c.2148C>A (p.Asp716Glu)
c.1908C>A (p.Asp636Glu)
c.1752C>A (p.Asp584Glu)
c.1921C>A
n.1689C>A
c.1947C>A (p.Asp649Glu)
c.1791C>A (p.Asp597Glu)
c.1914C>A (p.Asp638Glu)
c.1404C>A (p.Asp468Glu)
c.1581C>A (p.Asp527Glu)
c.1575C>A (p.Asp525Glu)
c.1116C>A (p.Asp372Glu)
c.645C>A (p.Asp215Glu)
n.2077C>A
n.2244C>A
c.1992C>A (p.Asp664Glu)
c.684C>A (p.Asp228Glu)
n.2294C>A
n.2267C>A
8g.141168398C>GCA372344322DENND3c.2148C>G (p.Asp716Glu)
c.1908C>G (p.Asp636Glu)
c.1752C>G (p.Asp584Glu)
c.1921C>G
n.1689C>G
c.1947C>G (p.Asp649Glu)
c.1791C>G (p.Asp597Glu)
c.1914C>G (p.Asp638Glu)
c.1404C>G (p.Asp468Glu)
c.1581C>G (p.Asp527Glu)
c.1575C>G (p.Asp525Glu)
c.1116C>G (p.Asp372Glu)
c.645C>G (p.Asp215Glu)
n.2077C>G
n.2244C>G
c.1992C>G (p.Asp664Glu)
c.684C>G (p.Asp228Glu)
n.2294C>G
n.2267C>G
8g.141168398C>TCA463496984DENND3c.2148C>T (p.Asp716=)
c.1908C>T (p.Asp636=)
c.1752C>T (p.Asp584=)
c.1921C>T
n.1689C>T
c.1947C>T (p.Asp649=)
c.1791C>T (p.Asp597=)
c.1914C>T (p.Asp638=)
c.1404C>T (p.Asp468=)
c.1581C>T (p.Asp527=)
c.1575C>T (p.Asp525=)
c.1116C>T (p.Asp372=)
c.645C>T (p.Asp215=)
n.2077C>T
n.2244C>T
c.1992C>T (p.Asp664=)
c.684C>T (p.Asp228=)
n.2294C>T
n.2267C>T
8g.141168399C>ACA4896815DENND3c.2149C>A (p.His717Asn)
c.1909C>A (p.His637Asn)
c.1753C>A (p.His585Asn)
c.1922C>A
n.1690C>A
c.1948C>A (p.His650Asn)
c.1792C>A (p.His598Asn)
c.1915C>A (p.His639Asn)
c.1405C>A (p.His469Asn)
c.1582C>A (p.His528Asn)
c.1576C>A (p.His526Asn)
c.1117C>A (p.His373Asn)
c.646C>A (p.His216Asn)
n.2078C>A
n.2245C>A
c.1993C>A (p.His665Asn)
c.685C>A (p.His229Asn)
n.2295C>A
n.2268C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168399C>GCA372344323DENND3c.2149C>G (p.His717Asp)
c.1909C>G (p.His637Asp)
c.1753C>G (p.His585Asp)
c.1922C>G
n.1690C>G
c.1948C>G (p.His650Asp)
c.1792C>G (p.His598Asp)
c.1915C>G (p.His639Asp)
c.1405C>G (p.His469Asp)
c.1582C>G (p.His528Asp)
c.1576C>G (p.His526Asp)
c.1117C>G (p.His373Asp)
c.646C>G (p.His216Asp)
n.2078C>G
n.2245C>G
c.1993C>G (p.His665Asp)
c.685C>G (p.His229Asp)
n.2295C>G
n.2268C>G
 ClinVar
8g.141168399C>TCA372344324DENND3c.2149C>T (p.His717Tyr)
c.1909C>T (p.His637Tyr)
c.1753C>T (p.His585Tyr)
c.1922C>T
n.1690C>T
c.1948C>T (p.His650Tyr)
c.1792C>T (p.His598Tyr)
c.1915C>T (p.His639Tyr)
c.1405C>T (p.His469Tyr)
c.1582C>T (p.His528Tyr)
c.1576C>T (p.His526Tyr)
c.1117C>T (p.His373Tyr)
c.646C>T (p.His216Tyr)
n.2078C>T
n.2245C>T
c.1993C>T (p.His665Tyr)
c.685C>T (p.His229Tyr)
n.2295C>T
n.2268C>T
8g.141168400delCA585724934DENND3c.2150del (p.His717ProfsTer2)
c.1910del (p.His637ProfsTer2)
c.1754del (p.His585ProfsTer2)
c.1923del
n.1691del
c.1949del (p.His650ProfsTer2)
c.1793del (p.His598ProfsTer2)
c.1916del (p.His639ProfsTer2)
c.1406del (p.His469ProfsTer2)
c.1583del (p.His528ProfsTer2)
c.1577del (p.His526ProfsTer2)
c.1118del (p.His373ProfsTer2)
c.647del (p.His216ProfsTer2)
n.2079del
n.2246del
c.1994del (p.His665ProfsTer2)
c.686del (p.His229ProfsTer2)
n.2296del
n.2269del
 dbSNP gnomAD v2 gnomAD v4
8g.141168400A>CCA372344325DENND3c.2150A>C (p.His717Pro)
c.1910A>C (p.His637Pro)
c.1754A>C (p.His585Pro)
c.1923A>C
n.1691A>C
c.1949A>C (p.His650Pro)
c.1793A>C (p.His598Pro)
c.1916A>C (p.His639Pro)
c.1406A>C (p.His469Pro)
c.1583A>C (p.His528Pro)
c.1577A>C (p.His526Pro)
c.1118A>C (p.His373Pro)
c.647A>C (p.His216Pro)
n.2079A>C
n.2246A>C
c.1994A>C (p.His665Pro)
c.686A>C (p.His229Pro)
n.2296A>C
n.2269A>C
8g.141168400A>GCA372344326DENND3c.2150A>G (p.His717Arg)
c.1910A>G (p.His637Arg)
c.1754A>G (p.His585Arg)
c.1923A>G
n.1691A>G
c.1949A>G (p.His650Arg)
c.1793A>G (p.His598Arg)
c.1916A>G (p.His639Arg)
c.1406A>G (p.His469Arg)
c.1583A>G (p.His528Arg)
c.1577A>G (p.His526Arg)
c.1118A>G (p.His373Arg)
c.647A>G (p.His216Arg)
n.2079A>G
n.2246A>G
c.1994A>G (p.His665Arg)
c.686A>G (p.His229Arg)
n.2296A>G
n.2269A>G
8g.141168400A>TCA372344327DENND3c.2150A>T (p.His717Leu)
c.1910A>T (p.His637Leu)
c.1754A>T (p.His585Leu)
c.1923A>T
n.1691A>T
c.1949A>T (p.His650Leu)
c.1793A>T (p.His598Leu)
c.1916A>T (p.His639Leu)
c.1406A>T (p.His469Leu)
c.1583A>T (p.His528Leu)
c.1577A>T (p.His526Leu)
c.1118A>T (p.His373Leu)
c.647A>T (p.His216Leu)
n.2079A>T
n.2246A>T
c.1994A>T (p.His665Leu)
c.686A>T (p.His229Leu)
n.2296A>T
n.2269A>T
8g.141168401C>ACA372344329DENND3c.2151C>A (p.His717Gln)
c.1911C>A (p.His637Gln)
c.1755C>A (p.His585Gln)
c.1924C>A
n.1692C>A
c.1950C>A (p.His650Gln)
c.1794C>A (p.His598Gln)
c.1917C>A (p.His639Gln)
c.1407C>A (p.His469Gln)
c.1584C>A (p.His528Gln)
c.1578C>A (p.His526Gln)
c.1119C>A (p.His373Gln)
c.648C>A (p.His216Gln)
n.2080C>A
n.2247C>A
c.1995C>A (p.His665Gln)
c.687C>A (p.His229Gln)
n.2297C>A
n.2270C>A
8g.141168401C>GCA372344328DENND3c.2151C>G (p.His717Gln)
c.1911C>G (p.His637Gln)
c.1755C>G (p.His585Gln)
c.1924C>G
n.1692C>G
c.1950C>G (p.His650Gln)
c.1794C>G (p.His598Gln)
c.1917C>G (p.His639Gln)
c.1407C>G (p.His469Gln)
c.1584C>G (p.His528Gln)
c.1578C>G (p.His526Gln)
c.1119C>G (p.His373Gln)
c.648C>G (p.His216Gln)
n.2080C>G
n.2247C>G
c.1995C>G (p.His665Gln)
c.687C>G (p.His229Gln)
n.2297C>G
n.2270C>G
8g.141168401C>TCA4896816DENND3c.2151C>T (p.His717=)
c.1911C>T (p.His637=)
c.1755C>T (p.His585=)
c.1924C>T
n.1692C>T
c.1950C>T (p.His650=)
c.1794C>T (p.His598=)
c.1917C>T (p.His639=)
c.1407C>T (p.His469=)
c.1584C>T (p.His528=)
c.1578C>T (p.His526=)
c.1119C>T (p.His373=)
c.648C>T (p.His216=)
n.2080C>T
n.2247C>T
c.1995C>T (p.His665=)
c.687C>T (p.His229=)
n.2297C>T
n.2270C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168402G>ACA4896817DENND3c.2152G>A (p.Val718Met)
c.1912G>A (p.Val638Met)
c.1756G>A (p.Val586Met)
c.1925G>A
n.1693G>A
c.1951G>A (p.Val651Met)
c.1795G>A (p.Val599Met)
c.1918G>A (p.Val640Met)
c.1408G>A (p.Val470Met)
c.1585G>A (p.Val529Met)
c.1579G>A (p.Val527Met)
c.1120G>A (p.Val374Met)
c.649G>A (p.Val217Met)
n.2081G>A
n.2248G>A
c.1996G>A (p.Val666Met)
c.688G>A (p.Val230Met)
n.2298G>A
n.2271G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.141168402G>CCA372344330DENND3c.2152G>C (p.Val718Leu)
c.1912G>C (p.Val638Leu)
c.1756G>C (p.Val586Leu)
c.1925G>C
n.1693G>C
c.1951G>C (p.Val651Leu)
c.1795G>C (p.Val599Leu)
c.1918G>C (p.Val640Leu)
c.1408G>C (p.Val470Leu)
c.1585G>C (p.Val529Leu)
c.1579G>C (p.Val527Leu)
c.1120G>C (p.Val374Leu)
c.649G>C (p.Val217Leu)
n.2081G>C
n.2248G>C
c.1996G>C (p.Val666Leu)
c.688G>C (p.Val230Leu)
n.2298G>C
n.2271G>C
8g.141168402G>TCA372344331DENND3c.2152G>T (p.Val718Leu)
c.1912G>T (p.Val638Leu)
c.1756G>T (p.Val586Leu)
c.1925G>T
n.1693G>T
c.1951G>T (p.Val651Leu)
c.1795G>T (p.Val599Leu)
c.1918G>T (p.Val640Leu)
c.1408G>T (p.Val470Leu)
c.1585G>T (p.Val529Leu)
c.1579G>T (p.Val527Leu)
c.1120G>T (p.Val374Leu)
c.649G>T (p.Val217Leu)
n.2081G>T
n.2248G>T
c.1996G>T (p.Val666Leu)
c.688G>T (p.Val230Leu)
n.2298G>T
n.2271G>T
 dbSNP
8g.141168403T>ACA372344332DENND3c.2153T>A (p.Val718Glu)
c.1913T>A (p.Val638Glu)
c.1757T>A (p.Val586Glu)
c.1926T>A
n.1694T>A
c.1952T>A (p.Val651Glu)
c.1796T>A (p.Val599Glu)
c.1919T>A (p.Val640Glu)
c.1409T>A (p.Val470Glu)
c.1586T>A (p.Val529Glu)
c.1580T>A (p.Val527Glu)
c.1121T>A (p.Val374Glu)
c.650T>A (p.Val217Glu)
n.2082T>A
n.2249T>A
c.1997T>A (p.Val666Glu)
c.689T>A (p.Val230Glu)
n.2299T>A
n.2272T>A
8g.141168403T>CCA372344333DENND3c.2153T>C (p.Val718Ala)
c.1913T>C (p.Val638Ala)
c.1757T>C (p.Val586Ala)
c.1926T>C
n.1694T>C
c.1952T>C (p.Val651Ala)
c.1796T>C (p.Val599Ala)
c.1919T>C (p.Val640Ala)
c.1409T>C (p.Val470Ala)
c.1586T>C (p.Val529Ala)
c.1580T>C (p.Val527Ala)
c.1121T>C (p.Val374Ala)
c.650T>C (p.Val217Ala)
n.2082T>C
n.2249T>C
c.1997T>C (p.Val666Ala)
c.689T>C (p.Val230Ala)
n.2299T>C
n.2272T>C
8g.141168403T>GCA372344334DENND3c.2153T>G (p.Val718Gly)
c.1913T>G (p.Val638Gly)
c.1757T>G (p.Val586Gly)
c.1926T>G
n.1694T>G
c.1952T>G (p.Val651Gly)
c.1796T>G (p.Val599Gly)
c.1919T>G (p.Val640Gly)
c.1409T>G (p.Val470Gly)
c.1586T>G (p.Val529Gly)
c.1580T>G (p.Val527Gly)
c.1121T>G (p.Val374Gly)
c.650T>G (p.Val217Gly)
n.2082T>G
n.2249T>G
c.1997T>G (p.Val666Gly)
c.689T>G (p.Val230Gly)
n.2299T>G
n.2272T>G
8g.141168404G>ACA463496988DENND3c.2154G>A (p.Val718=)
c.1914G>A (p.Val638=)
c.1758G>A (p.Val586=)
c.1927G>A
n.1695G>A
c.1953G>A (p.Val651=)
c.1797G>A (p.Val599=)
c.1920G>A (p.Val640=)
c.1410G>A (p.Val470=)
c.1587G>A (p.Val529=)
c.1581G>A (p.Val527=)
c.1122G>A (p.Val374=)
c.651G>A (p.Val217=)
n.2083G>A
n.2250G>A
c.1998G>A (p.Val666=)
c.690G>A (p.Val230=)
n.2300G>A
n.2273G>A
 gnomAD v4
8g.141168404G>CCA463496989DENND3c.2154G>C (p.Val718=)
c.1914G>C (p.Val638=)
c.1758G>C (p.Val586=)
c.1927G>C
n.1695G>C
c.1953G>C (p.Val651=)
c.1797G>C (p.Val599=)
c.1920G>C (p.Val640=)
c.1410G>C (p.Val470=)
c.1587G>C (p.Val529=)
c.1581G>C (p.Val527=)
c.1122G>C (p.Val374=)
c.651G>C (p.Val217=)
n.2083G>C
n.2250G>C
c.1998G>C (p.Val666=)
c.690G>C (p.Val230=)
n.2300G>C
n.2273G>C
8g.141168404G>TCA463496991DENND3c.2154G>T (p.Val718=)
c.1914G>T (p.Val638=)
c.1758G>T (p.Val586=)
c.1927G>T
n.1695G>T
c.1953G>T (p.Val651=)
c.1797G>T (p.Val599=)
c.1920G>T (p.Val640=)
c.1410G>T (p.Val470=)
c.1587G>T (p.Val529=)
c.1581G>T (p.Val527=)
c.1122G>T (p.Val374=)
c.651G>T (p.Val217=)
n.2083G>T
n.2250G>T
c.1998G>T (p.Val666=)
c.690G>T (p.Val230=)
n.2300G>T
n.2273G>T
8g.141168405A>CCA372344335DENND3c.2155A>C (p.Lys719Gln)
c.1915A>C (p.Lys639Gln)
c.1759A>C (p.Lys587Gln)
c.1928A>C
n.1696A>C
c.1954A>C (p.Lys652Gln)
c.1798A>C (p.Lys600Gln)
c.1921A>C (p.Lys641Gln)
c.1411A>C (p.Lys471Gln)
c.1588A>C (p.Lys530Gln)
c.1582A>C (p.Lys528Gln)
c.1123A>C (p.Lys375Gln)
c.652A>C (p.Lys218Gln)
n.2084A>C
n.2251A>C
c.1999A>C (p.Lys667Gln)
c.691A>C (p.Lys231Gln)
n.2301A>C
n.2274A>C
8g.141168405A>GCA372344336DENND3c.2155A>G (p.Lys719Glu)
c.1915A>G (p.Lys639Glu)
c.1759A>G (p.Lys587Glu)
c.1928A>G
n.1696A>G
c.1954A>G (p.Lys652Glu)
c.1798A>G (p.Lys600Glu)
c.1921A>G (p.Lys641Glu)
c.1411A>G (p.Lys471Glu)
c.1588A>G (p.Lys530Glu)
c.1582A>G (p.Lys528Glu)
c.1123A>G (p.Lys375Glu)
c.652A>G (p.Lys218Glu)
n.2084A>G
n.2251A>G
c.1999A>G (p.Lys667Glu)
c.691A>G (p.Lys231Glu)
n.2301A>G
n.2274A>G
8g.141168405A>TCA372344337DENND3c.2155A>T (p.Lys719Ter)
c.1915A>T (p.Lys639Ter)
c.1759A>T (p.Lys587Ter)
c.1928A>T
n.1696A>T
c.1954A>T (p.Lys652Ter)
c.1798A>T (p.Lys600Ter)
c.1921A>T (p.Lys641Ter)
c.1411A>T (p.Lys471Ter)
c.1588A>T (p.Lys530Ter)
c.1582A>T (p.Lys528Ter)
c.1123A>T (p.Lys375Ter)
c.652A>T (p.Lys218Ter)
n.2084A>T
n.2251A>T
c.1999A>T (p.Lys667Ter)
c.691A>T (p.Lys231Ter)
n.2301A>T
n.2274A>T
8g.141168406A>CCA372344338DENND3c.2156A>C (p.Lys719Thr)
c.1916A>C (p.Lys639Thr)
c.1760A>C (p.Lys587Thr)
c.1929A>C
n.1697A>C
c.1955A>C (p.Lys652Thr)
c.1799A>C (p.Lys600Thr)
c.1922A>C (p.Lys641Thr)
c.1412A>C (p.Lys471Thr)
c.1589A>C (p.Lys530Thr)
c.1583A>C (p.Lys528Thr)
c.1124A>C (p.Lys375Thr)
c.653A>C (p.Lys218Thr)
n.2085A>C
n.2252A>C
c.2000A>C (p.Lys667Thr)
c.692A>C (p.Lys231Thr)
n.2302A>C
n.2275A>C
8g.141168406A>GCA372344339DENND3c.2156A>G (p.Lys719Arg)
c.1916A>G (p.Lys639Arg)
c.1760A>G (p.Lys587Arg)
c.1929A>G
n.1697A>G
c.1955A>G (p.Lys652Arg)
c.1799A>G (p.Lys600Arg)
c.1922A>G (p.Lys641Arg)
c.1412A>G (p.Lys471Arg)
c.1589A>G (p.Lys530Arg)
c.1583A>G (p.Lys528Arg)
c.1124A>G (p.Lys375Arg)
c.653A>G (p.Lys218Arg)
n.2085A>G
n.2252A>G
c.2000A>G (p.Lys667Arg)
c.692A>G (p.Lys231Arg)
n.2302A>G
n.2275A>G
8g.141168406A>TCA372344340DENND3c.2156A>T (p.Lys719Met)
c.1916A>T (p.Lys639Met)
c.1760A>T (p.Lys587Met)
c.1929A>T
n.1697A>T
c.1955A>T (p.Lys652Met)
c.1799A>T (p.Lys600Met)
c.1922A>T (p.Lys641Met)
c.1412A>T (p.Lys471Met)
c.1589A>T (p.Lys530Met)
c.1583A>T (p.Lys528Met)
c.1124A>T (p.Lys375Met)
c.653A>T (p.Lys218Met)
n.2085A>T
n.2252A>T
c.2000A>T (p.Lys667Met)
c.692A>T (p.Lys231Met)
n.2302A>T
n.2275A>T
8g.141168407G>ACA463496992DENND3c.2157G>A (p.Lys719=)
c.1917G>A (p.Lys639=)
c.1761G>A (p.Lys587=)
c.1930G>A
n.1698G>A
c.1956G>A (p.Lys652=)
c.1800G>A (p.Lys600=)
c.1923G>A (p.Lys641=)
c.1413G>A (p.Lys471=)
c.1590G>A (p.Lys530=)
c.1584G>A (p.Lys528=)
c.1125G>A (p.Lys375=)
c.654G>A (p.Lys218=)
n.2086G>A
n.2253G>A
c.2001G>A (p.Lys667=)
c.693G>A (p.Lys231=)
n.2303G>A
n.2276G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.141168407G>CCA372344341DENND3c.2157G>C (p.Lys719Asn)
c.1917G>C (p.Lys639Asn)
c.1761G>C (p.Lys587Asn)
c.1930G>C
n.1698G>C
c.1956G>C (p.Lys652Asn)
c.1800G>C (p.Lys600Asn)
c.1923G>C (p.Lys641Asn)
c.1413G>C (p.Lys471Asn)
c.1590G>C (p.Lys530Asn)
c.1584G>C (p.Lys528Asn)
c.1125G>C (p.Lys375Asn)
c.654G>C (p.Lys218Asn)
n.2086G>C
n.2253G>C
c.2001G>C (p.Lys667Asn)
c.693G>C (p.Lys231Asn)
n.2303G>C
n.2276G>C
8g.141168407G>TCA372344342DENND3c.2157G>T (p.Lys719Asn)
c.1917G>T (p.Lys639Asn)
c.1761G>T (p.Lys587Asn)
c.1930G>T
n.1698G>T
c.1956G>T (p.Lys652Asn)
c.1800G>T (p.Lys600Asn)
c.1923G>T (p.Lys641Asn)
c.1413G>T (p.Lys471Asn)
c.1590G>T (p.Lys530Asn)
c.1584G>T (p.Lys528Asn)
c.1125G>T (p.Lys375Asn)
c.654G>T (p.Lys218Asn)
n.2086G>T
n.2253G>T
c.2001G>T (p.Lys667Asn)
c.693G>T (p.Lys231Asn)
n.2303G>T
n.2276G>T
8g.141168408A>CCA372344343DENND3c.2158A>C (p.Lys720Gln)
c.1918A>C (p.Lys640Gln)
c.1762A>C (p.Lys588Gln)
c.1931A>C
n.1699A>C
c.1957A>C (p.Lys653Gln)
c.1801A>C (p.Lys601Gln)
c.1924A>C (p.Lys642Gln)
c.1414A>C (p.Lys472Gln)
c.1591A>C (p.Lys531Gln)
c.1585A>C (p.Lys529Gln)
c.1126A>C (p.Lys376Gln)
c.655A>C (p.Lys219Gln)
n.2087A>C
n.2254A>C
c.2002A>C (p.Lys668Gln)
c.694A>C (p.Lys232Gln)
n.2304A>C
n.2277A>C
8g.141168408A>GCA372344344DENND3c.2158A>G (p.Lys720Glu)
c.1918A>G (p.Lys640Glu)
c.1762A>G (p.Lys588Glu)
c.1931A>G
n.1699A>G
c.1957A>G (p.Lys653Glu)
c.1801A>G (p.Lys601Glu)
c.1924A>G (p.Lys642Glu)
c.1414A>G (p.Lys472Glu)
c.1591A>G (p.Lys531Glu)
c.1585A>G (p.Lys529Glu)
c.1126A>G (p.Lys376Glu)
c.655A>G (p.Lys219Glu)
n.2087A>G
n.2254A>G
c.2002A>G (p.Lys668Glu)
c.694A>G (p.Lys232Glu)
n.2304A>G
n.2277A>G
8g.141168408A>TCA372344345DENND3c.2158A>T (p.Lys720Ter)
c.1918A>T (p.Lys640Ter)
c.1762A>T (p.Lys588Ter)
c.1931A>T
n.1699A>T
c.1957A>T (p.Lys653Ter)
c.1801A>T (p.Lys601Ter)
c.1924A>T (p.Lys642Ter)
c.1414A>T (p.Lys472Ter)
c.1591A>T (p.Lys531Ter)
c.1585A>T (p.Lys529Ter)
c.1126A>T (p.Lys376Ter)
c.655A>T (p.Lys219Ter)
n.2087A>T
n.2254A>T
c.2002A>T (p.Lys668Ter)
c.694A>T (p.Lys232Ter)
n.2304A>T
n.2277A>T
8g.141168409A>CCA372344346DENND3c.2159A>C (p.Lys720Thr)
c.1919A>C (p.Lys640Thr)
c.1763A>C (p.Lys588Thr)
c.1932A>C
n.1700A>C
c.1958A>C (p.Lys653Thr)
c.1802A>C (p.Lys601Thr)
c.1925A>C (p.Lys642Thr)
c.1415A>C (p.Lys472Thr)
c.1592A>C (p.Lys531Thr)
c.1586A>C (p.Lys529Thr)
c.1127A>C (p.Lys376Thr)
c.656A>C (p.Lys219Thr)
n.2088A>C
n.2255A>C
c.2003A>C (p.Lys668Thr)
c.695A>C (p.Lys232Thr)
n.2305A>C
n.2278A>C
8g.141168409A>GCA372344347DENND3c.2159A>G (p.Lys720Arg)
c.1919A>G (p.Lys640Arg)
c.1763A>G (p.Lys588Arg)
c.1932A>G
n.1700A>G
c.1958A>G (p.Lys653Arg)
c.1802A>G (p.Lys601Arg)
c.1925A>G (p.Lys642Arg)
c.1415A>G (p.Lys472Arg)
c.1592A>G (p.Lys531Arg)
c.1586A>G (p.Lys529Arg)
c.1127A>G (p.Lys376Arg)
c.656A>G (p.Lys219Arg)
n.2088A>G
n.2255A>G
c.2003A>G (p.Lys668Arg)
c.695A>G (p.Lys232Arg)
n.2305A>G
n.2278A>G
8g.141168409A>TCA372344348DENND3c.2159A>T (p.Lys720Met)
c.1919A>T (p.Lys640Met)
c.1763A>T (p.Lys588Met)
c.1932A>T
n.1700A>T
c.1958A>T (p.Lys653Met)
c.1802A>T (p.Lys601Met)
c.1925A>T (p.Lys642Met)
c.1415A>T (p.Lys472Met)
c.1592A>T (p.Lys531Met)
c.1586A>T (p.Lys529Met)
c.1127A>T (p.Lys376Met)
c.656A>T (p.Lys219Met)
n.2088A>T
n.2255A>T
c.2003A>T (p.Lys668Met)
c.695A>T (p.Lys232Met)
n.2305A>T
n.2278A>T
8g.141168410delCA16044030DENND3c.2160del (p.Lys720AsnfsTer15)
c.1920del (p.Lys640AsnfsTer15)
c.1764del (p.Lys588AsnfsTer15)
c.1933del
n.1701del
c.1959del (p.Lys653AsnfsTer15)
c.1803del (p.Lys601AsnfsTer15)
c.1926del (p.Lys642AsnfsTer15)
c.1416del (p.Lys472AsnfsTer15)
c.1593del (p.Lys531AsnfsTer15)
c.1587del (p.Lys529AsnfsTer15)
c.1128del (p.Lys376AsnfsTer15)
c.657del (p.Lys219AsnfsTer15)
n.2089del
n.2256del
c.2004del (p.Lys668AsnfsTer15)
c.696del (p.Lys232AsnfsTer15)
n.2306del
n.2279del
 ClinVar dbSNP
8g.141168410G>ACA463496995DENND3c.2160G>A (p.Lys720=)
c.1920G>A (p.Lys640=)
c.1764G>A (p.Lys588=)
c.1933G>A
n.1701G>A
c.1959G>A (p.Lys653=)
c.1803G>A (p.Lys601=)
c.1926G>A (p.Lys642=)
c.1416G>A (p.Lys472=)
c.1593G>A (p.Lys531=)
c.1587G>A (p.Lys529=)
c.1128G>A (p.Lys376=)
c.657G>A (p.Lys219=)
n.2089G>A
n.2256G>A
c.2004G>A (p.Lys668=)
c.696G>A (p.Lys232=)
n.2306G>A
n.2279G>A
8g.141168410G>CCA372344349DENND3c.2160G>C (p.Lys720Asn)
c.1920G>C (p.Lys640Asn)
c.1764G>C (p.Lys588Asn)
c.1933G>C
n.1701G>C
c.1959G>C (p.Lys653Asn)
c.1803G>C (p.Lys601Asn)
c.1926G>C (p.Lys642Asn)
c.1416G>C (p.Lys472Asn)
c.1593G>C (p.Lys531Asn)
c.1587G>C (p.Lys529Asn)
c.1128G>C (p.Lys376Asn)
c.657G>C (p.Lys219Asn)
n.2089G>C
n.2256G>C
c.2004G>C (p.Lys668Asn)
c.696G>C (p.Lys232Asn)
n.2306G>C
n.2279G>C
 dbSNP
8g.141168410G>TCA372344350DENND3c.2160G>T (p.Lys720Asn)
c.1920G>T (p.Lys640Asn)
c.1764G>T (p.Lys588Asn)
c.1933G>T
n.1701G>T
c.1959G>T (p.Lys653Asn)
c.1803G>T (p.Lys601Asn)
c.1926G>T (p.Lys642Asn)
c.1416G>T (p.Lys472Asn)
c.1593G>T (p.Lys531Asn)
c.1587G>T (p.Lys529Asn)
c.1128G>T (p.Lys376Asn)
c.657G>T (p.Lys219Asn)
n.2089G>T
n.2256G>T
c.2004G>T (p.Lys668Asn)
c.696G>T (p.Lys232Asn)
n.2306G>T
n.2279G>T
8g.141168411T>ACA372344351DENND3c.2161T>A (p.Phe721Ile)
c.1921T>A (p.Phe641Ile)
c.1765T>A (p.Phe589Ile)
c.1934T>A
n.1702T>A
c.1960T>A (p.Phe654Ile)
c.1804T>A (p.Phe602Ile)
c.1927T>A (p.Phe643Ile)
c.1417T>A (p.Phe473Ile)
c.1594T>A (p.Phe532Ile)
c.1588T>A (p.Phe530Ile)
c.1129T>A (p.Phe377Ile)
c.658T>A (p.Phe220Ile)
n.2090T>A
n.2257T>A
c.2005T>A (p.Phe669Ile)
c.697T>A (p.Phe233Ile)
n.2307T>A
n.2280T>A
8g.141168411T>CCA372344352DENND3c.2161T>C (p.Phe721Leu)
c.1921T>C (p.Phe641Leu)
c.1765T>C (p.Phe589Leu)
c.1934T>C
n.1702T>C
c.1960T>C (p.Phe654Leu)
c.1804T>C (p.Phe602Leu)
c.1927T>C (p.Phe643Leu)
c.1417T>C (p.Phe473Leu)
c.1594T>C (p.Phe532Leu)
c.1588T>C (p.Phe530Leu)
c.1129T>C (p.Phe377Leu)
c.658T>C (p.Phe220Leu)
n.2090T>C
n.2257T>C
c.2005T>C (p.Phe669Leu)
c.697T>C (p.Phe233Leu)
n.2307T>C
n.2280T>C
8g.141168411T>GCA372344353DENND3c.2161T>G (p.Phe721Val)
c.1921T>G (p.Phe641Val)
c.1765T>G (p.Phe589Val)
c.1934T>G
n.1702T>G
c.1960T>G (p.Phe654Val)
c.1804T>G (p.Phe602Val)
c.1927T>G (p.Phe643Val)
c.1417T>G (p.Phe473Val)
c.1594T>G (p.Phe532Val)
c.1588T>G (p.Phe530Val)
c.1129T>G (p.Phe377Val)
c.658T>G (p.Phe220Val)
n.2090T>G
n.2257T>G
c.2005T>G (p.Phe669Val)
c.697T>G (p.Phe233Val)
n.2307T>G
n.2280T>G
8g.141168412delCA2695210339DENND3c.2162del (p.Phe721SerfsTer14)
c.1922del (p.Phe641SerfsTer14)
c.1766del (p.Phe589SerfsTer14)
c.1935del
n.1703del
c.1961del (p.Phe654SerfsTer14)
c.1805del (p.Phe602SerfsTer14)
c.1928del (p.Phe643SerfsTer14)
c.1418del (p.Phe473SerfsTer14)
c.1595del (p.Phe532SerfsTer14)
c.1589del (p.Phe530SerfsTer14)
c.1130del (p.Phe377SerfsTer14)
c.659del (p.Phe220SerfsTer14)
n.2091del
n.2258del
c.2006del (p.Phe669SerfsTer14)
c.698del (p.Phe233SerfsTer14)
n.2308del
n.2281del
8g.141168412T>ACA372344356DENND3c.2162T>A (p.Phe721Tyr)
c.1922T>A (p.Phe641Tyr)
c.1766T>A (p.Phe589Tyr)
c.1935T>A
n.1703T>A
c.1961T>A (p.Phe654Tyr)
c.1805T>A (p.Phe602Tyr)
c.1928T>A (p.Phe643Tyr)
c.1418T>A (p.Phe473Tyr)
c.1595T>A (p.Phe532Tyr)
c.1589T>A (p.Phe530Tyr)
c.1130T>A (p.Phe377Tyr)
c.659T>A (p.Phe220Tyr)
n.2091T>A
n.2258T>A
c.2006T>A (p.Phe669Tyr)
c.698T>A (p.Phe233Tyr)
n.2308T>A
n.2281T>A
8g.141168412T>CCA372344354DENND3c.2162T>C (p.Phe721Ser)
c.1922T>C (p.Phe641Ser)
c.1766T>C (p.Phe589Ser)
c.1935T>C
n.1703T>C
c.1961T>C (p.Phe654Ser)
c.1805T>C (p.Phe602Ser)
c.1928T>C (p.Phe643Ser)
c.1418T>C (p.Phe473Ser)
c.1595T>C (p.Phe532Ser)
c.1589T>C (p.Phe530Ser)
c.1130T>C (p.Phe377Ser)
c.659T>C (p.Phe220Ser)
n.2091T>C
n.2258T>C
c.2006T>C (p.Phe669Ser)
c.698T>C (p.Phe233Ser)
n.2308T>C
n.2281T>C
8g.141168412T>GCA372344355DENND3c.2162T>G (p.Phe721Cys)
c.1922T>G (p.Phe641Cys)
c.1766T>G (p.Phe589Cys)
c.1935T>G
n.1703T>G
c.1961T>G (p.Phe654Cys)
c.1805T>G (p.Phe602Cys)
c.1928T>G (p.Phe643Cys)
c.1418T>G (p.Phe473Cys)
c.1595T>G (p.Phe532Cys)
c.1589T>G (p.Phe530Cys)
c.1130T>G (p.Phe377Cys)
c.659T>G (p.Phe220Cys)
n.2091T>G
n.2258T>G
c.2006T>G (p.Phe669Cys)
c.698T>G (p.Phe233Cys)
n.2308T>G
n.2281T>G
8g.141168413C>ACA372344357DENND3c.2163C>A (p.Phe721Leu)
c.1923C>A (p.Phe641Leu)
c.1767C>A (p.Phe589Leu)
c.1936C>A
n.1704C>A
c.1962C>A (p.Phe654Leu)
c.1806C>A (p.Phe602Leu)
c.1929C>A (p.Phe643Leu)
c.1419C>A (p.Phe473Leu)
c.1596C>A (p.Phe532Leu)
c.1590C>A (p.Phe530Leu)
c.1131C>A (p.Phe377Leu)
c.660C>A (p.Phe220Leu)
n.2092C>A
n.2259C>A
c.2007C>A (p.Phe669Leu)
c.699C>A (p.Phe233Leu)
n.2309C>A
n.2282C>A
8g.141168413C>GCA372344358DENND3c.2163C>G (p.Phe721Leu)
c.1923C>G (p.Phe641Leu)
c.1767C>G (p.Phe589Leu)
c.1936C>G
n.1704C>G
c.1962C>G (p.Phe654Leu)
c.1806C>G (p.Phe602Leu)
c.1929C>G (p.Phe643Leu)
c.1419C>G (p.Phe473Leu)
c.1596C>G (p.Phe532Leu)
c.1590C>G (p.Phe530Leu)
c.1131C>G (p.Phe377Leu)
c.660C>G (p.Phe220Leu)
n.2092C>G
n.2259C>G
c.2007C>G (p.Phe669Leu)
c.699C>G (p.Phe233Leu)
n.2309C>G
n.2282C>G
 dbSNP gnomAD v2 gnomAD v4
8g.141168413C>TCA463496997DENND3c.2163C>T (p.Phe721=)
c.1923C>T (p.Phe641=)
c.1767C>T (p.Phe589=)
c.1936C>T
n.1704C>T
c.1962C>T (p.Phe654=)
c.1806C>T (p.Phe602=)
c.1929C>T (p.Phe643=)
c.1419C>T (p.Phe473=)
c.1596C>T (p.Phe532=)
c.1590C>T (p.Phe530=)
c.1131C>T (p.Phe377=)
c.660C>T (p.Phe220=)
n.2092C>T
n.2259C>T
c.2007C>T (p.Phe669=)
c.699C>T (p.Phe233=)
n.2309C>T
n.2282C>T
8g.141168414A>CCA372344359DENND3c.2164A>C (p.Lys722Gln)
c.1924A>C (p.Lys642Gln)
c.1768A>C (p.Lys590Gln)
c.1937A>C
n.1705A>C
c.1963A>C (p.Lys655Gln)
c.1807A>C (p.Lys603Gln)
c.1930A>C (p.Lys644Gln)
c.1420A>C (p.Lys474Gln)
c.1597A>C (p.Lys533Gln)
c.1591A>C (p.Lys531Gln)
c.1132A>C (p.Lys378Gln)
c.661A>C (p.Lys221Gln)
n.2093A>C
n.2260A>C
c.2008A>C (p.Lys670Gln)
c.700A>C (p.Lys234Gln)
n.2310A>C
n.2283A>C
8g.141168414A>GCA4896818DENND3c.2164A>G (p.Lys722Glu)
c.1924A>G (p.Lys642Glu)
c.1768A>G (p.Lys590Glu)
c.1937A>G
n.1705A>G
c.1963A>G (p.Lys655Glu)
c.1807A>G (p.Lys603Glu)
c.1930A>G (p.Lys644Glu)
c.1420A>G (p.Lys474Glu)
c.1597A>G (p.Lys533Glu)
c.1591A>G (p.Lys531Glu)
c.1132A>G (p.Lys378Glu)
c.661A>G (p.Lys221Glu)
n.2093A>G
n.2260A>G
c.2008A>G (p.Lys670Glu)
c.700A>G (p.Lys234Glu)
n.2310A>G
n.2283A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168414A>TCA372344360DENND3c.2164A>T (p.Lys722Ter)
c.1924A>T (p.Lys642Ter)
c.1768A>T (p.Lys590Ter)
c.1937A>T
n.1705A>T
c.1963A>T (p.Lys655Ter)
c.1807A>T (p.Lys603Ter)
c.1930A>T (p.Lys644Ter)
c.1420A>T (p.Lys474Ter)
c.1597A>T (p.Lys533Ter)
c.1591A>T (p.Lys531Ter)
c.1132A>T (p.Lys378Ter)
c.661A>T (p.Lys221Ter)
n.2093A>T
n.2260A>T
c.2008A>T (p.Lys670Ter)
c.700A>T (p.Lys234Ter)
n.2310A>T
n.2283A>T
8g.141168415A>CCA372344361DENND3c.2165A>C (p.Lys722Thr)
c.1925A>C (p.Lys642Thr)
c.1769A>C (p.Lys590Thr)
c.1938A>C
n.1706A>C
c.1964A>C (p.Lys655Thr)
c.1808A>C (p.Lys603Thr)
c.1931A>C (p.Lys644Thr)
c.1421A>C (p.Lys474Thr)
c.1598A>C (p.Lys533Thr)
c.1592A>C (p.Lys531Thr)
c.1133A>C (p.Lys378Thr)
c.662A>C (p.Lys221Thr)
n.2094A>C
n.2261A>C
c.2009A>C (p.Lys670Thr)
c.701A>C (p.Lys234Thr)
n.2311A>C
n.2284A>C
8g.141168415A>GCA372344362DENND3c.2165A>G (p.Lys722Arg)
c.1925A>G (p.Lys642Arg)
c.1769A>G (p.Lys590Arg)
c.1938A>G
n.1706A>G
c.1964A>G (p.Lys655Arg)
c.1808A>G (p.Lys603Arg)
c.1931A>G (p.Lys644Arg)
c.1421A>G (p.Lys474Arg)
c.1598A>G (p.Lys533Arg)
c.1592A>G (p.Lys531Arg)
c.1133A>G (p.Lys378Arg)
c.662A>G (p.Lys221Arg)
n.2094A>G
n.2261A>G
c.2009A>G (p.Lys670Arg)
c.701A>G (p.Lys234Arg)
n.2311A>G
n.2284A>G
 gnomAD v4
8g.141168415A>TCA372344363DENND3c.2165A>T (p.Lys722Met)
c.1925A>T (p.Lys642Met)
c.1769A>T (p.Lys590Met)
c.1938A>T
n.1706A>T
c.1964A>T (p.Lys655Met)
c.1808A>T (p.Lys603Met)
c.1931A>T (p.Lys644Met)
c.1421A>T (p.Lys474Met)
c.1598A>T (p.Lys533Met)
c.1592A>T (p.Lys531Met)
c.1133A>T (p.Lys378Met)
c.662A>T (p.Lys221Met)
n.2094A>T
n.2261A>T
c.2009A>T (p.Lys670Met)
c.701A>T (p.Lys234Met)
n.2311A>T
n.2284A>T
8g.141168416G>ACA463496999DENND3c.2166G>A (p.Lys722=)
c.1926G>A (p.Lys642=)
c.1770G>A (p.Lys590=)
c.1939G>A
n.1707G>A
c.1965G>A (p.Lys655=)
c.1809G>A (p.Lys603=)
c.1932G>A (p.Lys644=)
c.1422G>A (p.Lys474=)
c.1599G>A (p.Lys533=)
c.1593G>A (p.Lys531=)
c.1134G>A (p.Lys378=)
c.663G>A (p.Lys221=)
n.2095G>A
n.2262G>A
c.2010G>A (p.Lys670=)
c.702G>A (p.Lys234=)
n.2312G>A
n.2285G>A
8g.141168416G>CCA372344364DENND3c.2166G>C (p.Lys722Asn)
c.1926G>C (p.Lys642Asn)
c.1770G>C (p.Lys590Asn)
c.1939G>C
n.1707G>C
c.1965G>C (p.Lys655Asn)
c.1809G>C (p.Lys603Asn)
c.1932G>C (p.Lys644Asn)
c.1422G>C (p.Lys474Asn)
c.1599G>C (p.Lys533Asn)
c.1593G>C (p.Lys531Asn)
c.1134G>C (p.Lys378Asn)
c.663G>C (p.Lys221Asn)
n.2095G>C
n.2262G>C
c.2010G>C (p.Lys670Asn)
c.702G>C (p.Lys234Asn)
n.2312G>C
n.2285G>C
8g.141168416G>TCA372344365DENND3c.2166G>T (p.Lys722Asn)
c.1926G>T (p.Lys642Asn)
c.1770G>T (p.Lys590Asn)
c.1939G>T
n.1707G>T
c.1965G>T (p.Lys655Asn)
c.1809G>T (p.Lys603Asn)
c.1932G>T (p.Lys644Asn)
c.1422G>T (p.Lys474Asn)
c.1599G>T (p.Lys533Asn)
c.1593G>T (p.Lys531Asn)
c.1134G>T (p.Lys378Asn)
c.663G>T (p.Lys221Asn)
n.2095G>T
n.2262G>T
c.2010G>T (p.Lys670Asn)
c.702G>T (p.Lys234Asn)
n.2312G>T
n.2285G>T
8g.141168417C>ACA372344366DENND3c.2167C>A (p.Leu723Met)
c.1927C>A (p.Leu643Met)
c.1771C>A (p.Leu591Met)
c.1940C>A
n.1708C>A
c.1966C>A (p.Leu656Met)
c.1810C>A (p.Leu604Met)
c.1933C>A (p.Leu645Met)
c.1423C>A (p.Leu475Met)
c.1600C>A (p.Leu534Met)
c.1594C>A (p.Leu532Met)
c.1135C>A (p.Leu379Met)
c.664C>A (p.Leu222Met)
n.2096C>A
n.2263C>A
c.2011C>A (p.Leu671Met)
c.703C>A (p.Leu235Met)
n.2313C>A
n.2286C>A
 gnomAD v4
8g.141168417C>GCA4896819DENND3c.2167C>G (p.Leu723Val)
c.1927C>G (p.Leu643Val)
c.1771C>G (p.Leu591Val)
c.1940C>G
n.1708C>G
c.1966C>G (p.Leu656Val)
c.1810C>G (p.Leu604Val)
c.1933C>G (p.Leu645Val)
c.1423C>G (p.Leu475Val)
c.1600C>G (p.Leu534Val)
c.1594C>G (p.Leu532Val)
c.1135C>G (p.Leu379Val)
c.664C>G (p.Leu222Val)
n.2096C>G
n.2263C>G
c.2011C>G (p.Leu671Val)
c.703C>G (p.Leu235Val)
n.2313C>G
n.2286C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168417C>TCA463497000DENND3c.2167C>T (p.Leu723=)
c.1927C>T (p.Leu643=)
c.1771C>T (p.Leu591=)
c.1940C>T
n.1708C>T
c.1966C>T (p.Leu656=)
c.1810C>T (p.Leu604=)
c.1933C>T (p.Leu645=)
c.1423C>T (p.Leu475=)
c.1600C>T (p.Leu534=)
c.1594C>T (p.Leu532=)
c.1135C>T (p.Leu379=)
c.664C>T (p.Leu222=)
n.2096C>T
n.2263C>T
c.2011C>T (p.Leu671=)
c.703C>T (p.Leu235=)
n.2313C>T
n.2286C>T
8g.141168418T>ACA372344368DENND3c.2168T>A (p.Leu723Gln)
c.1928T>A (p.Leu643Gln)
c.1772T>A (p.Leu591Gln)
c.1941T>A
n.1709T>A
c.1967T>A (p.Leu656Gln)
c.1811T>A (p.Leu604Gln)
c.1934T>A (p.Leu645Gln)
c.1424T>A (p.Leu475Gln)
c.1601T>A (p.Leu534Gln)
c.1595T>A (p.Leu532Gln)
c.1136T>A (p.Leu379Gln)
c.665T>A (p.Leu222Gln)
n.2097T>A
n.2264T>A
c.2012T>A (p.Leu671Gln)
c.704T>A (p.Leu235Gln)
n.2314T>A
n.2287T>A
8g.141168418T>CCA372344369DENND3c.2168T>C (p.Leu723Pro)
c.1928T>C (p.Leu643Pro)
c.1772T>C (p.Leu591Pro)
c.1941T>C
n.1709T>C
c.1967T>C (p.Leu656Pro)
c.1811T>C (p.Leu604Pro)
c.1934T>C (p.Leu645Pro)
c.1424T>C (p.Leu475Pro)
c.1601T>C (p.Leu534Pro)
c.1595T>C (p.Leu532Pro)
c.1136T>C (p.Leu379Pro)
c.665T>C (p.Leu222Pro)
n.2097T>C
n.2264T>C
c.2012T>C (p.Leu671Pro)
c.704T>C (p.Leu235Pro)
n.2314T>C
n.2287T>C
8g.141168418T>GCA372344367DENND3c.2168T>G (p.Leu723Arg)
c.1928T>G (p.Leu643Arg)
c.1772T>G (p.Leu591Arg)
c.1941T>G
n.1709T>G
c.1967T>G (p.Leu656Arg)
c.1811T>G (p.Leu604Arg)
c.1934T>G (p.Leu645Arg)
c.1424T>G (p.Leu475Arg)
c.1601T>G (p.Leu534Arg)
c.1595T>G (p.Leu532Arg)
c.1136T>G (p.Leu379Arg)
c.665T>G (p.Leu222Arg)
n.2097T>G
n.2264T>G
c.2012T>G (p.Leu671Arg)
c.704T>G (p.Leu235Arg)
n.2314T>G
n.2287T>G
8g.141168419G>ACA463497005DENND3c.2169G>A (p.Leu723=)
c.1929G>A (p.Leu643=)
c.1773G>A (p.Leu591=)
c.1942G>A
n.1710G>A
c.1968G>A (p.Leu656=)
c.1812G>A (p.Leu604=)
c.1935G>A (p.Leu645=)
c.1425G>A (p.Leu475=)
c.1602G>A (p.Leu534=)
c.1596G>A (p.Leu532=)
c.1137G>A (p.Leu379=)
c.666G>A (p.Leu222=)
n.2098G>A
n.2265G>A
c.2013G>A (p.Leu671=)
c.705G>A (p.Leu235=)
n.2315G>A
n.2288G>A
 COSMIC
8g.141168419G>CCA463497003DENND3c.2169G>C (p.Leu723=)
c.1929G>C (p.Leu643=)
c.1773G>C (p.Leu591=)
c.1942G>C
n.1710G>C
c.1968G>C (p.Leu656=)
c.1812G>C (p.Leu604=)
c.1935G>C (p.Leu645=)
c.1425G>C (p.Leu475=)
c.1602G>C (p.Leu534=)
c.1596G>C (p.Leu532=)
c.1137G>C (p.Leu379=)
c.666G>C (p.Leu222=)
n.2098G>C
n.2265G>C
c.2013G>C (p.Leu671=)
c.705G>C (p.Leu235=)
n.2315G>C
n.2288G>C
 gnomAD v4
8g.141168419G>TCA463497001DENND3c.2169G>T (p.Leu723=)
c.1929G>T (p.Leu643=)
c.1773G>T (p.Leu591=)
c.1942G>T
n.1710G>T
c.1968G>T (p.Leu656=)
c.1812G>T (p.Leu604=)
c.1935G>T (p.Leu645=)
c.1425G>T (p.Leu475=)
c.1602G>T (p.Leu534=)
c.1596G>T (p.Leu532=)
c.1137G>T (p.Leu379=)
c.666G>T (p.Leu222=)
n.2098G>T
n.2265G>T
c.2013G>T (p.Leu671=)
c.705G>T (p.Leu235=)
n.2315G>T
n.2288G>T
8g.141168420C>ACA372344371DENND3c.2170C>A (p.Pro724Thr)
c.1930C>A (p.Pro644Thr)
c.1774C>A (p.Pro592Thr)
c.1943C>A
n.1711C>A
c.1969C>A (p.Pro657Thr)
c.1813C>A (p.Pro605Thr)
c.1936C>A (p.Pro646Thr)
c.1426C>A (p.Pro476Thr)
c.1603C>A (p.Pro535Thr)
c.1597C>A (p.Pro533Thr)
c.1138C>A (p.Pro380Thr)
c.667C>A (p.Pro223Thr)
n.2099C>A
n.2266C>A
c.2014C>A (p.Pro672Thr)
c.706C>A (p.Pro236Thr)
n.2316C>A
n.2289C>A
8g.141168420C>GCA372344370DENND3c.2170C>G (p.Pro724Ala)
c.1930C>G (p.Pro644Ala)
c.1774C>G (p.Pro592Ala)
c.1943C>G
n.1711C>G
c.1969C>G (p.Pro657Ala)
c.1813C>G (p.Pro605Ala)
c.1936C>G (p.Pro646Ala)
c.1426C>G (p.Pro476Ala)
c.1603C>G (p.Pro535Ala)
c.1597C>G (p.Pro533Ala)
c.1138C>G (p.Pro380Ala)
c.667C>G (p.Pro223Ala)
n.2099C>G
n.2266C>G
c.2014C>G (p.Pro672Ala)
c.706C>G (p.Pro236Ala)
n.2316C>G
n.2289C>G
8g.141168420C>TCA372344372DENND3c.2170C>T (p.Pro724Ser)
c.1930C>T (p.Pro644Ser)
c.1774C>T (p.Pro592Ser)
c.1943C>T
n.1711C>T
c.1969C>T (p.Pro657Ser)
c.1813C>T (p.Pro605Ser)
c.1936C>T (p.Pro646Ser)
c.1426C>T (p.Pro476Ser)
c.1603C>T (p.Pro535Ser)
c.1597C>T (p.Pro533Ser)
c.1138C>T (p.Pro380Ser)
c.667C>T (p.Pro223Ser)
n.2099C>T
n.2266C>T
c.2014C>T (p.Pro672Ser)
c.706C>T (p.Pro236Ser)
n.2316C>T
n.2289C>T
 gnomAD v4
8g.141168421C>ACA372344373DENND3c.2171C>A (p.Pro724His)
c.1931C>A (p.Pro644His)
c.1775C>A (p.Pro592His)
c.1944C>A
n.1712C>A
c.1970C>A (p.Pro657His)
c.1814C>A (p.Pro605His)
c.1937C>A (p.Pro646His)
c.1427C>A (p.Pro476His)
c.1604C>A (p.Pro535His)
c.1598C>A (p.Pro533His)
c.1139C>A (p.Pro380His)
c.668C>A (p.Pro223His)
n.2100C>A
n.2267C>A
c.2015C>A (p.Pro672His)
c.707C>A (p.Pro236His)
n.2317C>A
n.2290C>A
8g.141168421C>GCA372344374DENND3c.2171C>G (p.Pro724Arg)
c.1931C>G (p.Pro644Arg)
c.1775C>G (p.Pro592Arg)
c.1944C>G
n.1712C>G
c.1970C>G (p.Pro657Arg)
c.1814C>G (p.Pro605Arg)
c.1937C>G (p.Pro646Arg)
c.1427C>G (p.Pro476Arg)
c.1604C>G (p.Pro535Arg)
c.1598C>G (p.Pro533Arg)
c.1139C>G (p.Pro380Arg)
c.668C>G (p.Pro223Arg)
n.2100C>G
n.2267C>G
c.2015C>G (p.Pro672Arg)
c.707C>G (p.Pro236Arg)
n.2317C>G
n.2290C>G
8g.141168421C>TCA372344375DENND3c.2171C>T (p.Pro724Leu)
c.1931C>T (p.Pro644Leu)
c.1775C>T (p.Pro592Leu)
c.1944C>T
n.1712C>T
c.1970C>T (p.Pro657Leu)
c.1814C>T (p.Pro605Leu)
c.1937C>T (p.Pro646Leu)
c.1427C>T (p.Pro476Leu)
c.1604C>T (p.Pro535Leu)
c.1598C>T (p.Pro533Leu)
c.1139C>T (p.Pro380Leu)
c.668C>T (p.Pro223Leu)
n.2100C>T
n.2267C>T
c.2015C>T (p.Pro672Leu)
c.707C>T (p.Pro236Leu)
n.2317C>T
n.2290C>T
8g.141168422C>ACA463497006DENND3c.2172C>A (p.Pro724=)
c.1932C>A (p.Pro644=)
c.1776C>A (p.Pro592=)
c.1945C>A
n.1713C>A
c.1971C>A (p.Pro657=)
c.1815C>A (p.Pro605=)
c.1938C>A (p.Pro646=)
c.1428C>A (p.Pro476=)
c.1605C>A (p.Pro535=)
c.1599C>A (p.Pro533=)
c.1140C>A (p.Pro380=)
c.669C>A (p.Pro223=)
n.2101C>A
n.2268C>A
c.2016C>A (p.Pro672=)
c.708C>A (p.Pro236=)
n.2318C>A
n.2291C>A
8g.141168422C>GCA463497007DENND3c.2172C>G (p.Pro724=)
c.1932C>G (p.Pro644=)
c.1776C>G (p.Pro592=)
c.1945C>G
n.1713C>G
c.1971C>G (p.Pro657=)
c.1815C>G (p.Pro605=)
c.1938C>G (p.Pro646=)
c.1428C>G (p.Pro476=)
c.1605C>G (p.Pro535=)
c.1599C>G (p.Pro533=)
c.1140C>G (p.Pro380=)
c.669C>G (p.Pro223=)
n.2101C>G
n.2268C>G
c.2016C>G (p.Pro672=)
c.708C>G (p.Pro236=)
n.2318C>G
n.2291C>G
 dbSNP gnomAD v2 gnomAD v4
8g.141168422C>TCA463497008DENND3c.2172C>T (p.Pro724=)
c.1932C>T (p.Pro644=)
c.1776C>T (p.Pro592=)
c.1945C>T
n.1713C>T
c.1971C>T (p.Pro657=)
c.1815C>T (p.Pro605=)
c.1938C>T (p.Pro646=)
c.1428C>T (p.Pro476=)
c.1605C>T (p.Pro535=)
c.1599C>T (p.Pro533=)
c.1140C>T (p.Pro380=)
c.669C>T (p.Pro223=)
n.2101C>T
n.2268C>T
c.2016C>T (p.Pro672=)
c.708C>T (p.Pro236=)
n.2318C>T
n.2291C>T

Number of alleles fetched