Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
8g.141168423A>CCA372344376DENND3c.2173A>C (p.Lys725Gln)
c.1933A>C (p.Lys645Gln)
c.1777A>C (p.Lys593Gln)
c.1946A>C
n.1714A>C
c.1972A>C (p.Lys658Gln)
c.1816A>C (p.Lys606Gln)
c.1939A>C (p.Lys647Gln)
c.1429A>C (p.Lys477Gln)
c.1606A>C (p.Lys536Gln)
c.1600A>C (p.Lys534Gln)
c.1141A>C (p.Lys381Gln)
c.670A>C (p.Lys224Gln)
n.2102A>C
n.2269A>C
c.2017A>C (p.Lys673Gln)
c.709A>C (p.Lys237Gln)
n.2319A>C
n.2292A>C
 gnomAD v4
8g.141168423A>GCA372344377DENND3c.2173A>G (p.Lys725Glu)
c.1933A>G (p.Lys645Glu)
c.1777A>G (p.Lys593Glu)
c.1946A>G
n.1714A>G
c.1972A>G (p.Lys658Glu)
c.1816A>G (p.Lys606Glu)
c.1939A>G (p.Lys647Glu)
c.1429A>G (p.Lys477Glu)
c.1606A>G (p.Lys536Glu)
c.1600A>G (p.Lys534Glu)
c.1141A>G (p.Lys381Glu)
c.670A>G (p.Lys224Glu)
n.2102A>G
n.2269A>G
c.2017A>G (p.Lys673Glu)
c.709A>G (p.Lys237Glu)
n.2319A>G
n.2292A>G
 dbSNP
8g.141168423A>TCA372344378DENND3c.2173A>T (p.Lys725Ter)
c.1933A>T (p.Lys645Ter)
c.1777A>T (p.Lys593Ter)
c.1946A>T
n.1714A>T
c.1972A>T (p.Lys658Ter)
c.1816A>T (p.Lys606Ter)
c.1939A>T (p.Lys647Ter)
c.1429A>T (p.Lys477Ter)
c.1606A>T (p.Lys536Ter)
c.1600A>T (p.Lys534Ter)
c.1141A>T (p.Lys381Ter)
c.670A>T (p.Lys224Ter)
n.2102A>T
n.2269A>T
c.2017A>T (p.Lys673Ter)
c.709A>T (p.Lys237Ter)
n.2319A>T
n.2292A>T
8g.141168426_141168428delCA2688780432DENND3c.2176_2178del (p.Lys726del)
c.1936_1938del (p.Lys646del)
c.1780_1782del (p.Lys594del)
c.1949_1951del
n.1717_1719del
c.1975_1977del (p.Lys659del)
c.1819_1821del (p.Lys607del)
c.1942_1944del (p.Lys648del)
c.1432_1434del (p.Lys478del)
c.1609_1611del (p.Lys537del)
c.1603_1605del (p.Lys535del)
c.1144_1146del (p.Lys382del)
c.673_675del (p.Lys225del)
n.2105_2107del
n.2272_2274del
c.2020_2022del (p.Lys674del)
c.712_714del (p.Lys238del)
n.2322_2324del
n.2295_2297del
 gnomAD v4
8g.141168424A>CCA372344379DENND3c.2174A>C (p.Lys725Thr)
c.1934A>C (p.Lys645Thr)
c.1778A>C (p.Lys593Thr)
c.1947A>C
n.1715A>C
c.1973A>C (p.Lys658Thr)
c.1817A>C (p.Lys606Thr)
c.1940A>C (p.Lys647Thr)
c.1430A>C (p.Lys477Thr)
c.1607A>C (p.Lys536Thr)
c.1601A>C (p.Lys534Thr)
c.1142A>C (p.Lys381Thr)
c.671A>C (p.Lys224Thr)
n.2103A>C
n.2270A>C
c.2018A>C (p.Lys673Thr)
c.710A>C (p.Lys237Thr)
n.2320A>C
n.2293A>C
8g.141168424A>GCA372344380DENND3c.2174A>G (p.Lys725Arg)
c.1934A>G (p.Lys645Arg)
c.1778A>G (p.Lys593Arg)
c.1947A>G
n.1715A>G
c.1973A>G (p.Lys658Arg)
c.1817A>G (p.Lys606Arg)
c.1940A>G (p.Lys647Arg)
c.1430A>G (p.Lys477Arg)
c.1607A>G (p.Lys536Arg)
c.1601A>G (p.Lys534Arg)
c.1142A>G (p.Lys381Arg)
c.671A>G (p.Lys224Arg)
n.2103A>G
n.2270A>G
c.2018A>G (p.Lys673Arg)
c.710A>G (p.Lys237Arg)
n.2320A>G
n.2293A>G
 dbSNP gnomAD v4
8g.141168424A>TCA372344381DENND3c.2174A>T (p.Lys725Met)
c.1934A>T (p.Lys645Met)
c.1778A>T (p.Lys593Met)
c.1947A>T
n.1715A>T
c.1973A>T (p.Lys658Met)
c.1817A>T (p.Lys606Met)
c.1940A>T (p.Lys647Met)
c.1430A>T (p.Lys477Met)
c.1607A>T (p.Lys536Met)
c.1601A>T (p.Lys534Met)
c.1142A>T (p.Lys381Met)
c.671A>T (p.Lys224Met)
n.2103A>T
n.2270A>T
c.2018A>T (p.Lys673Met)
c.710A>T (p.Lys237Met)
n.2320A>T
n.2293A>T
8g.141168425delCA848517121DENND3c.2175del (p.Lys726SerfsTer9)
c.1935del (p.Lys646SerfsTer9)
c.1779del (p.Lys594SerfsTer9)
c.1948del
n.1716del
c.1974del (p.Lys659SerfsTer9)
c.1818del (p.Lys607SerfsTer9)
c.1941del (p.Lys648SerfsTer9)
c.1431del (p.Lys478SerfsTer9)
c.1608del (p.Lys537SerfsTer9)
c.1602del (p.Lys535SerfsTer9)
c.1143del (p.Lys382SerfsTer9)
c.672del (p.Lys225SerfsTer9)
n.2104del
n.2271del
c.2019del (p.Lys674SerfsTer9)
c.711del (p.Lys238SerfsTer9)
n.2321del
n.2294del
 dbSNP gnomAD v3 gnomAD v4
8g.141168425G>ACA4896820DENND3c.2175G>A (p.Lys725=)
c.1935G>A (p.Lys645=)
c.1779G>A (p.Lys593=)
c.1948G>A
n.1716G>A
c.1974G>A (p.Lys658=)
c.1818G>A (p.Lys606=)
c.1941G>A (p.Lys647=)
c.1431G>A (p.Lys477=)
c.1608G>A (p.Lys536=)
c.1602G>A (p.Lys534=)
c.1143G>A (p.Lys381=)
c.672G>A (p.Lys224=)
n.2104G>A
n.2271G>A
c.2019G>A (p.Lys673=)
c.711G>A (p.Lys237=)
n.2321G>A
n.2294G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168425G>CCA372344382DENND3c.2175G>C (p.Lys725Asn)
c.1935G>C (p.Lys645Asn)
c.1779G>C (p.Lys593Asn)
c.1948G>C
n.1716G>C
c.1974G>C (p.Lys658Asn)
c.1818G>C (p.Lys606Asn)
c.1941G>C (p.Lys647Asn)
c.1431G>C (p.Lys477Asn)
c.1608G>C (p.Lys536Asn)
c.1602G>C (p.Lys534Asn)
c.1143G>C (p.Lys381Asn)
c.672G>C (p.Lys224Asn)
n.2104G>C
n.2271G>C
c.2019G>C (p.Lys673Asn)
c.711G>C (p.Lys237Asn)
n.2321G>C
n.2294G>C
8g.141168425G>TCA372344383DENND3c.2175G>T (p.Lys725Asn)
c.1935G>T (p.Lys645Asn)
c.1779G>T (p.Lys593Asn)
c.1948G>T
n.1716G>T
c.1974G>T (p.Lys658Asn)
c.1818G>T (p.Lys606Asn)
c.1941G>T (p.Lys647Asn)
c.1431G>T (p.Lys477Asn)
c.1608G>T (p.Lys536Asn)
c.1602G>T (p.Lys534Asn)
c.1143G>T (p.Lys381Asn)
c.672G>T (p.Lys224Asn)
n.2104G>T
n.2271G>T
c.2019G>T (p.Lys673Asn)
c.711G>T (p.Lys237Asn)
n.2321G>T
n.2294G>T
8g.141168426A>CCA372344386DENND3c.2176A>C (p.Lys726Gln)
c.1936A>C (p.Lys646Gln)
c.1780A>C (p.Lys594Gln)
c.1949A>C
n.1717A>C
c.1975A>C (p.Lys659Gln)
c.1819A>C (p.Lys607Gln)
c.1942A>C (p.Lys648Gln)
c.1432A>C (p.Lys478Gln)
c.1609A>C (p.Lys537Gln)
c.1603A>C (p.Lys535Gln)
c.1144A>C (p.Lys382Gln)
c.673A>C (p.Lys225Gln)
n.2105A>C
n.2272A>C
c.2020A>C (p.Lys674Gln)
c.712A>C (p.Lys238Gln)
n.2322A>C
n.2295A>C
 gnomAD v4
8g.141168426A>GCA372344384DENND3c.2176A>G (p.Lys726Glu)
c.1936A>G (p.Lys646Glu)
c.1780A>G (p.Lys594Glu)
c.1949A>G
n.1717A>G
c.1975A>G (p.Lys659Glu)
c.1819A>G (p.Lys607Glu)
c.1942A>G (p.Lys648Glu)
c.1432A>G (p.Lys478Glu)
c.1609A>G (p.Lys537Glu)
c.1603A>G (p.Lys535Glu)
c.1144A>G (p.Lys382Glu)
c.673A>G (p.Lys225Glu)
n.2105A>G
n.2272A>G
c.2020A>G (p.Lys674Glu)
c.712A>G (p.Lys238Glu)
n.2322A>G
n.2295A>G
8g.141168426A>TCA372344385DENND3c.2176A>T (p.Lys726Ter)
c.1936A>T (p.Lys646Ter)
c.1780A>T (p.Lys594Ter)
c.1949A>T
n.1717A>T
c.1975A>T (p.Lys659Ter)
c.1819A>T (p.Lys607Ter)
c.1942A>T (p.Lys648Ter)
c.1432A>T (p.Lys478Ter)
c.1609A>T (p.Lys537Ter)
c.1603A>T (p.Lys535Ter)
c.1144A>T (p.Lys382Ter)
c.673A>T (p.Lys225Ter)
n.2105A>T
n.2272A>T
c.2020A>T (p.Lys674Ter)
c.712A>T (p.Lys238Ter)
n.2322A>T
n.2295A>T
8g.141168427A>CCA372344387DENND3c.2177A>C (p.Lys726Thr)
c.1937A>C (p.Lys646Thr)
c.1781A>C (p.Lys594Thr)
c.1950A>C
n.1718A>C
c.1976A>C (p.Lys659Thr)
c.1820A>C (p.Lys607Thr)
c.1943A>C (p.Lys648Thr)
c.1433A>C (p.Lys478Thr)
c.1610A>C (p.Lys537Thr)
c.1604A>C (p.Lys535Thr)
c.1145A>C (p.Lys382Thr)
c.674A>C (p.Lys225Thr)
n.2106A>C
n.2273A>C
c.2021A>C (p.Lys674Thr)
c.713A>C (p.Lys238Thr)
n.2323A>C
n.2296A>C
8g.141168427A>GCA372344388DENND3c.2177A>G (p.Lys726Arg)
c.1937A>G (p.Lys646Arg)
c.1781A>G (p.Lys594Arg)
c.1950A>G
n.1718A>G
c.1976A>G (p.Lys659Arg)
c.1820A>G (p.Lys607Arg)
c.1943A>G (p.Lys648Arg)
c.1433A>G (p.Lys478Arg)
c.1610A>G (p.Lys537Arg)
c.1604A>G (p.Lys535Arg)
c.1145A>G (p.Lys382Arg)
c.674A>G (p.Lys225Arg)
n.2106A>G
n.2273A>G
c.2021A>G (p.Lys674Arg)
c.713A>G (p.Lys238Arg)
n.2323A>G
n.2296A>G
 gnomAD v4
8g.141168427A>TCA372344389DENND3c.2177A>T (p.Lys726Met)
c.1937A>T (p.Lys646Met)
c.1781A>T (p.Lys594Met)
c.1950A>T
n.1718A>T
c.1976A>T (p.Lys659Met)
c.1820A>T (p.Lys607Met)
c.1943A>T (p.Lys648Met)
c.1433A>T (p.Lys478Met)
c.1610A>T (p.Lys537Met)
c.1604A>T (p.Lys535Met)
c.1145A>T (p.Lys382Met)
c.674A>T (p.Lys225Met)
n.2106A>T
n.2273A>T
c.2021A>T (p.Lys674Met)
c.713A>T (p.Lys238Met)
n.2323A>T
n.2296A>T
8g.141168428G>ACA4896821DENND3c.2178G>A (p.Lys726=)
c.1938G>A (p.Lys646=)
c.1782G>A (p.Lys594=)
c.1951G>A
n.1719G>A
c.1977G>A (p.Lys659=)
c.1821G>A (p.Lys607=)
c.1944G>A (p.Lys648=)
c.1434G>A (p.Lys478=)
c.1611G>A (p.Lys537=)
c.1605G>A (p.Lys535=)
c.1146G>A (p.Lys382=)
c.675G>A (p.Lys225=)
n.2107G>A
n.2274G>A
c.2022G>A (p.Lys674=)
c.714G>A (p.Lys238=)
n.2324G>A
n.2297G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168428G>CCA372344390DENND3c.2178G>C (p.Lys726Asn)
c.1938G>C (p.Lys646Asn)
c.1782G>C (p.Lys594Asn)
c.1951G>C
n.1719G>C
c.1977G>C (p.Lys659Asn)
c.1821G>C (p.Lys607Asn)
c.1944G>C (p.Lys648Asn)
c.1434G>C (p.Lys478Asn)
c.1611G>C (p.Lys537Asn)
c.1605G>C (p.Lys535Asn)
c.1146G>C (p.Lys382Asn)
c.675G>C (p.Lys225Asn)
n.2107G>C
n.2274G>C
c.2022G>C (p.Lys674Asn)
c.714G>C (p.Lys238Asn)
n.2324G>C
n.2297G>C
8g.141168428G>TCA372344391DENND3c.2178G>T (p.Lys726Asn)
c.1938G>T (p.Lys646Asn)
c.1782G>T (p.Lys594Asn)
c.1951G>T
n.1719G>T
c.1977G>T (p.Lys659Asn)
c.1821G>T (p.Lys607Asn)
c.1944G>T (p.Lys648Asn)
c.1434G>T (p.Lys478Asn)
c.1611G>T (p.Lys537Asn)
c.1605G>T (p.Lys535Asn)
c.1146G>T (p.Lys382Asn)
c.675G>T (p.Lys225Asn)
n.2107G>T
n.2274G>T
c.2022G>T (p.Lys674Asn)
c.714G>T (p.Lys238Asn)
n.2324G>T
n.2297G>T
8g.141168429C>ACA372344392DENND3c.2179C>A (p.His727Asn)
c.1939C>A (p.His647Asn)
c.1783C>A (p.His595Asn)
c.1952C>A
n.1720C>A
c.1978C>A (p.His660Asn)
c.1822C>A (p.His608Asn)
c.1945C>A (p.His649Asn)
c.1435C>A (p.His479Asn)
c.1612C>A (p.His538Asn)
c.1606C>A (p.His536Asn)
c.1147C>A (p.His383Asn)
c.676C>A (p.His226Asn)
n.2108C>A
n.2275C>A
c.2023C>A (p.His675Asn)
c.715C>A (p.His239Asn)
n.2325C>A
n.2298C>A
8g.141168429C>GCA4896822DENND3c.2179C>G (p.His727Asp)
c.1939C>G (p.His647Asp)
c.1783C>G (p.His595Asp)
c.1952C>G
n.1720C>G
c.1978C>G (p.His660Asp)
c.1822C>G (p.His608Asp)
c.1945C>G (p.His649Asp)
c.1435C>G (p.His479Asp)
c.1612C>G (p.His538Asp)
c.1606C>G (p.His536Asp)
c.1147C>G (p.His383Asp)
c.676C>G (p.His226Asp)
n.2108C>G
n.2275C>G
c.2023C>G (p.His675Asp)
c.715C>G (p.His239Asp)
n.2325C>G
n.2298C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168429C>TCA4896823DENND3c.2179C>T (p.His727Tyr)
c.1939C>T (p.His647Tyr)
c.1783C>T (p.His595Tyr)
c.1952C>T
n.1720C>T
c.1978C>T (p.His660Tyr)
c.1822C>T (p.His608Tyr)
c.1945C>T (p.His649Tyr)
c.1435C>T (p.His479Tyr)
c.1612C>T (p.His538Tyr)
c.1606C>T (p.His536Tyr)
c.1147C>T (p.His383Tyr)
c.676C>T (p.His226Tyr)
n.2108C>T
n.2275C>T
c.2023C>T (p.His675Tyr)
c.715C>T (p.His239Tyr)
n.2325C>T
n.2298C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.141168431_141168432delCA2688780437DENND3c.2181_2182del (p.Met728AlafsTer?)
c.1941_1942del (p.Met648AlafsTer?)
c.1785_1786del (p.Met596AlafsTer?)
c.1954_1955del
n.1722_1723del
c.1980_1981del (p.Met661AlafsTer?)
c.1824_1825del (p.Met609AlafsTer?)
c.1947_1948del (p.Met650AlafsTer?)
c.1437_1438del (p.Met480AlafsTer?)
c.1614_1615del (p.Met539AlafsTer?)
c.1608_1609del (p.Met537AlafsTer?)
c.1149_1150del (p.Met384AlafsTer?)
c.678_679del (p.Met227AlafsTer?)
n.2110_2111del
n.2277_2278del
c.2025_2026del (p.Met676AlafsTer?)
c.717_718del (p.Met240AlafsTer?)
n.2327_2328del
n.2300_2301del
 gnomAD v4
8g.141168430A>CCA372344393DENND3c.2180A>C (p.His727Pro)
c.1940A>C (p.His647Pro)
c.1784A>C (p.His595Pro)
c.1953A>C
n.1721A>C
c.1979A>C (p.His660Pro)
c.1823A>C (p.His608Pro)
c.1946A>C (p.His649Pro)
c.1436A>C (p.His479Pro)
c.1613A>C (p.His538Pro)
c.1607A>C (p.His536Pro)
c.1148A>C (p.His383Pro)
c.677A>C (p.His226Pro)
n.2109A>C
n.2276A>C
c.2024A>C (p.His675Pro)
c.716A>C (p.His239Pro)
n.2326A>C
n.2299A>C
8g.141168430A>GCA372344394DENND3c.2180A>G (p.His727Arg)
c.1940A>G (p.His647Arg)
c.1784A>G (p.His595Arg)
c.1953A>G
n.1721A>G
c.1979A>G (p.His660Arg)
c.1823A>G (p.His608Arg)
c.1946A>G (p.His649Arg)
c.1436A>G (p.His479Arg)
c.1613A>G (p.His538Arg)
c.1607A>G (p.His536Arg)
c.1148A>G (p.His383Arg)
c.677A>G (p.His226Arg)
n.2109A>G
n.2276A>G
c.2024A>G (p.His675Arg)
c.716A>G (p.His239Arg)
n.2326A>G
n.2299A>G
8g.141168430A>TCA372344395DENND3c.2180A>T (p.His727Leu)
c.1940A>T (p.His647Leu)
c.1784A>T (p.His595Leu)
c.1953A>T
n.1721A>T
c.1979A>T (p.His660Leu)
c.1823A>T (p.His608Leu)
c.1946A>T (p.His649Leu)
c.1436A>T (p.His479Leu)
c.1613A>T (p.His538Leu)
c.1607A>T (p.His536Leu)
c.1148A>T (p.His383Leu)
c.677A>T (p.His226Leu)
n.2109A>T
n.2276A>T
c.2024A>T (p.His675Leu)
c.716A>T (p.His239Leu)
n.2326A>T
n.2299A>T
8g.141168431C>ACA372344396DENND3c.2181C>A (p.His727Gln)
c.1941C>A (p.His647Gln)
c.1785C>A (p.His595Gln)
c.1954C>A
n.1722C>A
c.1980C>A (p.His660Gln)
c.1824C>A (p.His608Gln)
c.1947C>A (p.His649Gln)
c.1437C>A (p.His479Gln)
c.1614C>A (p.His538Gln)
c.1608C>A (p.His536Gln)
c.1149C>A (p.His383Gln)
c.678C>A (p.His226Gln)
n.2110C>A
n.2277C>A
c.2025C>A (p.His675Gln)
c.717C>A (p.His239Gln)
n.2327C>A
n.2300C>A
8g.141168431C>GCA372344397DENND3c.2181C>G (p.His727Gln)
c.1941C>G (p.His647Gln)
c.1785C>G (p.His595Gln)
c.1954C>G
n.1722C>G
c.1980C>G (p.His660Gln)
c.1824C>G (p.His608Gln)
c.1947C>G (p.His649Gln)
c.1437C>G (p.His479Gln)
c.1614C>G (p.His538Gln)
c.1608C>G (p.His536Gln)
c.1149C>G (p.His383Gln)
c.678C>G (p.His226Gln)
n.2110C>G
n.2277C>G
c.2025C>G (p.His675Gln)
c.717C>G (p.His239Gln)
n.2327C>G
n.2300C>G
8g.141168431C>TCA187325855DENND3c.2181C>T (p.His727=)
c.1941C>T (p.His647=)
c.1785C>T (p.His595=)
c.1954C>T
n.1722C>T
c.1980C>T (p.His660=)
c.1824C>T (p.His608=)
c.1947C>T (p.His649=)
c.1437C>T (p.His479=)
c.1614C>T (p.His538=)
c.1608C>T (p.His536=)
c.1149C>T (p.His383=)
c.678C>T (p.His226=)
n.2110C>T
n.2277C>T
c.2025C>T (p.His675=)
c.717C>T (p.His239=)
n.2327C>T
n.2300C>T
 dbSNP
8g.141168432A>CCA372344398DENND3c.2182A>C (p.Met728Leu)
c.1942A>C (p.Met648Leu)
c.1786A>C (p.Met596Leu)
c.1955A>C
n.1723A>C
c.1981A>C (p.Met661Leu)
c.1825A>C (p.Met609Leu)
c.1948A>C (p.Met650Leu)
c.1438A>C (p.Met480Leu)
c.1615A>C (p.Met539Leu)
c.1609A>C (p.Met537Leu)
c.1150A>C (p.Met384Leu)
c.679A>C (p.Met227Leu)
n.2111A>C
n.2278A>C
c.2026A>C (p.Met676Leu)
c.718A>C (p.Met240Leu)
n.2328A>C
n.2301A>C
8g.141168432A>GCA372344399DENND3c.2182A>G (p.Met728Val)
c.1942A>G (p.Met648Val)
c.1786A>G (p.Met596Val)
c.1955A>G
n.1723A>G
c.1981A>G (p.Met661Val)
c.1825A>G (p.Met609Val)
c.1948A>G (p.Met650Val)
c.1438A>G (p.Met480Val)
c.1615A>G (p.Met539Val)
c.1609A>G (p.Met537Val)
c.1150A>G (p.Met384Val)
c.679A>G (p.Met227Val)
n.2111A>G
n.2278A>G
c.2026A>G (p.Met676Val)
c.718A>G (p.Met240Val)
n.2328A>G
n.2301A>G
 dbSNP gnomAD v4
8g.141168432A>TCA372344400DENND3c.2182A>T (p.Met728Leu)
c.1942A>T (p.Met648Leu)
c.1786A>T (p.Met596Leu)
c.1955A>T
n.1723A>T
c.1981A>T (p.Met661Leu)
c.1825A>T (p.Met609Leu)
c.1948A>T (p.Met650Leu)
c.1438A>T (p.Met480Leu)
c.1615A>T (p.Met539Leu)
c.1609A>T (p.Met537Leu)
c.1150A>T (p.Met384Leu)
c.679A>T (p.Met227Leu)
n.2111A>T
n.2278A>T
c.2026A>T (p.Met676Leu)
c.718A>T (p.Met240Leu)
n.2328A>T
n.2301A>T
8g.141168433T>ACA372344401DENND3c.2183T>A (p.Met728Lys)
c.1943T>A (p.Met648Lys)
c.1787T>A (p.Met596Lys)
c.1956T>A
n.1724T>A
c.1982T>A (p.Met661Lys)
c.1826T>A (p.Met609Lys)
c.1949T>A (p.Met650Lys)
c.1439T>A (p.Met480Lys)
c.1616T>A (p.Met539Lys)
c.1610T>A (p.Met537Lys)
c.1151T>A (p.Met384Lys)
c.680T>A (p.Met227Lys)
n.2112T>A
n.2279T>A
c.2027T>A (p.Met676Lys)
c.719T>A (p.Met240Lys)
n.2329T>A
n.2302T>A
8g.141168433T>CCA187325856DENND3c.2183T>C (p.Met728Thr)
c.1943T>C (p.Met648Thr)
c.1787T>C (p.Met596Thr)
c.1956T>C
n.1724T>C
c.1982T>C (p.Met661Thr)
c.1826T>C (p.Met609Thr)
c.1949T>C (p.Met650Thr)
c.1439T>C (p.Met480Thr)
c.1616T>C (p.Met539Thr)
c.1610T>C (p.Met537Thr)
c.1151T>C (p.Met384Thr)
c.680T>C (p.Met227Thr)
n.2112T>C
n.2279T>C
c.2027T>C (p.Met676Thr)
c.719T>C (p.Met240Thr)
n.2329T>C
n.2302T>C
 dbSNP gnomAD v4
8g.141168433T>GCA372344402DENND3c.2183T>G (p.Met728Arg)
c.1943T>G (p.Met648Arg)
c.1787T>G (p.Met596Arg)
c.1956T>G
n.1724T>G
c.1982T>G (p.Met661Arg)
c.1826T>G (p.Met609Arg)
c.1949T>G (p.Met650Arg)
c.1439T>G (p.Met480Arg)
c.1616T>G (p.Met539Arg)
c.1610T>G (p.Met537Arg)
c.1151T>G (p.Met384Arg)
c.680T>G (p.Met227Arg)
n.2112T>G
n.2279T>G
c.2027T>G (p.Met676Arg)
c.719T>G (p.Met240Arg)
n.2329T>G
n.2302T>G
8g.141168434G>ACA372344403DENND3c.2184G>A (p.Met728Ile)
c.1944G>A (p.Met648Ile)
c.1788G>A (p.Met596Ile)
c.1957G>A
n.1725G>A
c.1983G>A (p.Met661Ile)
c.1827G>A (p.Met609Ile)
c.1950G>A (p.Met650Ile)
c.1440G>A (p.Met480Ile)
c.1617G>A (p.Met539Ile)
c.1611G>A (p.Met537Ile)
c.1152G>A (p.Met384Ile)
c.681G>A (p.Met227Ile)
n.2113G>A
n.2280G>A
c.2028G>A (p.Met676Ile)
c.720G>A (p.Met240Ile)
n.2330G>A
n.2303G>A
8g.141168434G>CCA372344404DENND3c.2184G>C (p.Met728Ile)
c.1944G>C (p.Met648Ile)
c.1788G>C (p.Met596Ile)
c.1957G>C
n.1725G>C
c.1983G>C (p.Met661Ile)
c.1827G>C (p.Met609Ile)
c.1950G>C (p.Met650Ile)
c.1440G>C (p.Met480Ile)
c.1617G>C (p.Met539Ile)
c.1611G>C (p.Met537Ile)
c.1152G>C (p.Met384Ile)
c.681G>C (p.Met227Ile)
n.2113G>C
n.2280G>C
c.2028G>C (p.Met676Ile)
c.720G>C (p.Met240Ile)
n.2330G>C
n.2303G>C
8g.141168434G>TCA372344405DENND3c.2184G>T (p.Met728Ile)
c.1944G>T (p.Met648Ile)
c.1788G>T (p.Met596Ile)
c.1957G>T
n.1725G>T
c.1983G>T (p.Met661Ile)
c.1827G>T (p.Met609Ile)
c.1950G>T (p.Met650Ile)
c.1440G>T (p.Met480Ile)
c.1617G>T (p.Met539Ile)
c.1611G>T (p.Met537Ile)
c.1152G>T (p.Met384Ile)
c.681G>T (p.Met227Ile)
n.2113G>T
n.2280G>T
c.2028G>T (p.Met676Ile)
c.720G>T (p.Met240Ile)
n.2330G>T
n.2303G>T
8g.141168435C>ACA372344406DENND3c.2185C>A (p.Gln729Lys)
c.1945C>A (p.Gln649Lys)
c.1789C>A (p.Gln597Lys)
c.1958C>A
n.1726C>A
c.1984C>A (p.Gln662Lys)
c.1828C>A (p.Gln610Lys)
c.1951C>A (p.Gln651Lys)
c.1441C>A (p.Gln481Lys)
c.1618C>A (p.Gln540Lys)
c.1612C>A (p.Gln538Lys)
c.1153C>A (p.Gln385Lys)
c.682C>A (p.Gln228Lys)
n.2114C>A
n.2281C>A
c.2029C>A (p.Gln677Lys)
c.721C>A (p.Gln241Lys)
n.2331C>A
n.2304C>A
8g.141168435C>GCA372344407DENND3c.2185C>G (p.Gln729Glu)
c.1945C>G (p.Gln649Glu)
c.1789C>G (p.Gln597Glu)
c.1958C>G
n.1726C>G
c.1984C>G (p.Gln662Glu)
c.1828C>G (p.Gln610Glu)
c.1951C>G (p.Gln651Glu)
c.1441C>G (p.Gln481Glu)
c.1618C>G (p.Gln540Glu)
c.1612C>G (p.Gln538Glu)
c.1153C>G (p.Gln385Glu)
c.682C>G (p.Gln228Glu)
n.2114C>G
n.2281C>G
c.2029C>G (p.Gln677Glu)
c.721C>G (p.Gln241Glu)
n.2331C>G
n.2304C>G
 gnomAD v4
8g.141168435C>TCA372344408DENND3c.2185C>T (p.Gln729Ter)
c.1945C>T (p.Gln649Ter)
c.1789C>T (p.Gln597Ter)
c.1958C>T
n.1726C>T
c.1984C>T (p.Gln662Ter)
c.1828C>T (p.Gln610Ter)
c.1951C>T (p.Gln651Ter)
c.1441C>T (p.Gln481Ter)
c.1618C>T (p.Gln540Ter)
c.1612C>T (p.Gln538Ter)
c.1153C>T (p.Gln385Ter)
c.682C>T (p.Gln228Ter)
n.2114C>T
n.2281C>T
c.2029C>T (p.Gln677Ter)
c.721C>T (p.Gln241Ter)
n.2331C>T
n.2304C>T
 gnomAD v4
8g.141168436A>CCA372344411DENND3c.2186A>C (p.Gln729Pro)
c.1946A>C (p.Gln649Pro)
c.1790A>C (p.Gln597Pro)
c.1959A>C
n.1727A>C
c.1985A>C (p.Gln662Pro)
c.1829A>C (p.Gln610Pro)
c.1952A>C (p.Gln651Pro)
c.1442A>C (p.Gln481Pro)
c.1619A>C (p.Gln540Pro)
c.1613A>C (p.Gln538Pro)
c.1154A>C (p.Gln385Pro)
c.683A>C (p.Gln228Pro)
n.2115A>C
n.2282A>C
c.2030A>C (p.Gln677Pro)
c.722A>C (p.Gln241Pro)
n.2332A>C
n.2305A>C
8g.141168436A>GCA372344409DENND3c.2186A>G (p.Gln729Arg)
c.1946A>G (p.Gln649Arg)
c.1790A>G (p.Gln597Arg)
c.1959A>G
n.1727A>G
c.1985A>G (p.Gln662Arg)
c.1829A>G (p.Gln610Arg)
c.1952A>G (p.Gln651Arg)
c.1442A>G (p.Gln481Arg)
c.1619A>G (p.Gln540Arg)
c.1613A>G (p.Gln538Arg)
c.1154A>G (p.Gln385Arg)
c.683A>G (p.Gln228Arg)
n.2115A>G
n.2282A>G
c.2030A>G (p.Gln677Arg)
c.722A>G (p.Gln241Arg)
n.2332A>G
n.2305A>G
8g.141168436A>TCA372344410DENND3c.2186A>T (p.Gln729Leu)
c.1946A>T (p.Gln649Leu)
c.1790A>T (p.Gln597Leu)
c.1959A>T
n.1727A>T
c.1985A>T (p.Gln662Leu)
c.1829A>T (p.Gln610Leu)
c.1952A>T (p.Gln651Leu)
c.1442A>T (p.Gln481Leu)
c.1619A>T (p.Gln540Leu)
c.1613A>T (p.Gln538Leu)
c.1154A>T (p.Gln385Leu)
c.683A>T (p.Gln228Leu)
n.2115A>T
n.2282A>T
c.2030A>T (p.Gln677Leu)
c.722A>T (p.Gln241Leu)
n.2332A>T
n.2305A>T
8g.141168437G>ACA4896824DENND3c.2187G>A (p.Gln729=)
c.1947G>A (p.Gln649=)
c.1791G>A (p.Gln597=)
c.1960G>A
n.1728G>A
c.1986G>A (p.Gln662=)
c.1830G>A (p.Gln610=)
c.1953G>A (p.Gln651=)
c.1443G>A (p.Gln481=)
c.1620G>A (p.Gln540=)
c.1614G>A (p.Gln538=)
c.1155G>A (p.Gln385=)
c.684G>A (p.Gln228=)
n.2116G>A
n.2283G>A
c.2031G>A (p.Gln677=)
c.723G>A (p.Gln241=)
n.2333G>A
n.2306G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168437G>CCA372344412DENND3c.2187G>C (p.Gln729His)
c.1947G>C (p.Gln649His)
c.1791G>C (p.Gln597His)
c.1960G>C
n.1728G>C
c.1986G>C (p.Gln662His)
c.1830G>C (p.Gln610His)
c.1953G>C (p.Gln651His)
c.1443G>C (p.Gln481His)
c.1620G>C (p.Gln540His)
c.1614G>C (p.Gln538His)
c.1155G>C (p.Gln385His)
c.684G>C (p.Gln228His)
n.2116G>C
n.2283G>C
c.2031G>C (p.Gln677His)
c.723G>C (p.Gln241His)
n.2333G>C
n.2306G>C
 gnomAD v4
8g.141168437G>TCA372344413DENND3c.2187G>T (p.Gln729His)
c.1947G>T (p.Gln649His)
c.1791G>T (p.Gln597His)
c.1960G>T
n.1728G>T
c.1986G>T (p.Gln662His)
c.1830G>T (p.Gln610His)
c.1953G>T (p.Gln651His)
c.1443G>T (p.Gln481His)
c.1620G>T (p.Gln540His)
c.1614G>T (p.Gln538His)
c.1155G>T (p.Gln385His)
c.684G>T (p.Gln228His)
n.2116G>T
n.2283G>T
c.2031G>T (p.Gln677His)
c.723G>T (p.Gln241His)
n.2333G>T
n.2306G>T
8g.141168438C>ACA372344414DENND3c.2188C>A (p.Leu730Met)
c.1948C>A (p.Leu650Met)
c.1792C>A (p.Leu598Met)
c.1961C>A
n.1729C>A
c.1987C>A (p.Leu663Met)
c.1831C>A (p.Leu611Met)
c.1954C>A (p.Leu652Met)
c.1444C>A (p.Leu482Met)
c.1621C>A (p.Leu541Met)
c.1615C>A (p.Leu539Met)
c.1156C>A (p.Leu386Met)
c.685C>A (p.Leu229Met)
n.2117C>A
n.2284C>A
c.2032C>A (p.Leu678Met)
c.724C>A (p.Leu242Met)
n.2334C>A
n.2307C>A
8g.141168438C>GCA372344415DENND3c.2188C>G (p.Leu730Val)
c.1948C>G (p.Leu650Val)
c.1792C>G (p.Leu598Val)
c.1961C>G
n.1729C>G
c.1987C>G (p.Leu663Val)
c.1831C>G (p.Leu611Val)
c.1954C>G (p.Leu652Val)
c.1444C>G (p.Leu482Val)
c.1621C>G (p.Leu541Val)
c.1615C>G (p.Leu539Val)
c.1156C>G (p.Leu386Val)
c.685C>G (p.Leu229Val)
n.2117C>G
n.2284C>G
c.2032C>G (p.Leu678Val)
c.724C>G (p.Leu242Val)
n.2334C>G
n.2307C>G
8g.141168438C>TCA463497016DENND3c.2188C>T (p.Leu730=)
c.1948C>T (p.Leu650=)
c.1792C>T (p.Leu598=)
c.1961C>T
n.1729C>T
c.1987C>T (p.Leu663=)
c.1831C>T (p.Leu611=)
c.1954C>T (p.Leu652=)
c.1444C>T (p.Leu482=)
c.1621C>T (p.Leu541=)
c.1615C>T (p.Leu539=)
c.1156C>T (p.Leu386=)
c.685C>T (p.Leu229=)
n.2117C>T
n.2284C>T
c.2032C>T (p.Leu678=)
c.724C>T (p.Leu242=)
n.2334C>T
n.2307C>T
8g.141168439T>ACA372344416DENND3c.2189T>A (p.Leu730Gln)
c.1949T>A (p.Leu650Gln)
c.1793T>A (p.Leu598Gln)
c.1962T>A
n.1730T>A
c.1988T>A (p.Leu663Gln)
c.1832T>A (p.Leu611Gln)
c.1955T>A (p.Leu652Gln)
c.1445T>A (p.Leu482Gln)
c.1622T>A (p.Leu541Gln)
c.1616T>A (p.Leu539Gln)
c.1157T>A (p.Leu386Gln)
c.686T>A (p.Leu229Gln)
n.2118T>A
n.2285T>A
c.2033T>A (p.Leu678Gln)
c.725T>A (p.Leu242Gln)
n.2335T>A
n.2308T>A
8g.141168439T>CCA372344417DENND3c.2189T>C (p.Leu730Pro)
c.1949T>C (p.Leu650Pro)
c.1793T>C (p.Leu598Pro)
c.1962T>C
n.1730T>C
c.1988T>C (p.Leu663Pro)
c.1832T>C (p.Leu611Pro)
c.1955T>C (p.Leu652Pro)
c.1445T>C (p.Leu482Pro)
c.1622T>C (p.Leu541Pro)
c.1616T>C (p.Leu539Pro)
c.1157T>C (p.Leu386Pro)
c.686T>C (p.Leu229Pro)
n.2118T>C
n.2285T>C
c.2033T>C (p.Leu678Pro)
c.725T>C (p.Leu242Pro)
n.2335T>C
n.2308T>C
8g.141168439T>GCA372344418DENND3c.2189T>G (p.Leu730Arg)
c.1949T>G (p.Leu650Arg)
c.1793T>G (p.Leu598Arg)
c.1962T>G
n.1730T>G
c.1988T>G (p.Leu663Arg)
c.1832T>G (p.Leu611Arg)
c.1955T>G (p.Leu652Arg)
c.1445T>G (p.Leu482Arg)
c.1622T>G (p.Leu541Arg)
c.1616T>G (p.Leu539Arg)
c.1157T>G (p.Leu386Arg)
c.686T>G (p.Leu229Arg)
n.2118T>G
n.2285T>G
c.2033T>G (p.Leu678Arg)
c.725T>G (p.Leu242Arg)
n.2335T>G
n.2308T>G
8g.141168440G>ACA4896825DENND3c.2190G>A (p.Leu730=)
c.1950G>A (p.Leu650=)
c.1794G>A (p.Leu598=)
c.1963G>A
n.1731G>A
c.1989G>A (p.Leu663=)
c.1833G>A (p.Leu611=)
c.1956G>A (p.Leu652=)
c.1446G>A (p.Leu482=)
c.1623G>A (p.Leu541=)
c.1617G>A (p.Leu539=)
c.1158G>A (p.Leu386=)
c.687G>A (p.Leu229=)
n.2119G>A
n.2286G>A
c.2034G>A (p.Leu678=)
c.726G>A (p.Leu242=)
n.2336G>A
n.2309G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168440G>CCA463497019DENND3c.2190G>C (p.Leu730=)
c.1950G>C (p.Leu650=)
c.1794G>C (p.Leu598=)
c.1963G>C
n.1731G>C
c.1989G>C (p.Leu663=)
c.1833G>C (p.Leu611=)
c.1956G>C (p.Leu652=)
c.1446G>C (p.Leu482=)
c.1623G>C (p.Leu541=)
c.1617G>C (p.Leu539=)
c.1158G>C (p.Leu386=)
c.687G>C (p.Leu229=)
n.2119G>C
n.2286G>C
c.2034G>C (p.Leu678=)
c.726G>C (p.Leu242=)
n.2336G>C
n.2309G>C
8g.141168440G>TCA463497018DENND3c.2190G>T (p.Leu730=)
c.1950G>T (p.Leu650=)
c.1794G>T (p.Leu598=)
c.1963G>T
n.1731G>T
c.1989G>T (p.Leu663=)
c.1833G>T (p.Leu611=)
c.1956G>T (p.Leu652=)
c.1446G>T (p.Leu482=)
c.1623G>T (p.Leu541=)
c.1617G>T (p.Leu539=)
c.1158G>T (p.Leu386=)
c.687G>T (p.Leu229=)
n.2119G>T
n.2286G>T
c.2034G>T (p.Leu678=)
c.726G>T (p.Leu242=)
n.2336G>T
n.2309G>T
8g.141168441G>ACA372344419DENND3c.2191G>A (p.Gly731Ser)
c.1951G>A (p.Gly651Ser)
c.1795G>A (p.Gly599Ser)
c.1964G>A
n.1732G>A
c.1990G>A (p.Gly664Ser)
c.1834G>A (p.Gly612Ser)
c.1957G>A (p.Gly653Ser)
c.1447G>A (p.Gly483Ser)
c.1624G>A (p.Gly542Ser)
c.1618G>A (p.Gly540Ser)
c.1159G>A (p.Gly387Ser)
c.688G>A (p.Gly230Ser)
n.2120G>A
n.2287G>A
c.2035G>A (p.Gly679Ser)
c.727G>A (p.Gly243Ser)
n.2337G>A
n.2310G>A
8g.141168441G>CCA372344420DENND3c.2191G>C (p.Gly731Arg)
c.1951G>C (p.Gly651Arg)
c.1795G>C (p.Gly599Arg)
c.1964G>C
n.1732G>C
c.1990G>C (p.Gly664Arg)
c.1834G>C (p.Gly612Arg)
c.1957G>C (p.Gly653Arg)
c.1447G>C (p.Gly483Arg)
c.1624G>C (p.Gly542Arg)
c.1618G>C (p.Gly540Arg)
c.1159G>C (p.Gly387Arg)
c.688G>C (p.Gly230Arg)
n.2120G>C
n.2287G>C
c.2035G>C (p.Gly679Arg)
c.727G>C (p.Gly243Arg)
n.2337G>C
n.2310G>C
8g.141168441G>TCA372344421DENND3c.2191G>T (p.Gly731Cys)
c.1951G>T (p.Gly651Cys)
c.1795G>T (p.Gly599Cys)
c.1964G>T
n.1732G>T
c.1990G>T (p.Gly664Cys)
c.1834G>T (p.Gly612Cys)
c.1957G>T (p.Gly653Cys)
c.1447G>T (p.Gly483Cys)
c.1624G>T (p.Gly542Cys)
c.1618G>T (p.Gly540Cys)
c.1159G>T (p.Gly387Cys)
c.688G>T (p.Gly230Cys)
n.2120G>T
n.2287G>T
c.2035G>T (p.Gly679Cys)
c.727G>T (p.Gly243Cys)
n.2337G>T
n.2310G>T
 gnomAD v4
8g.141168442G>ACA372344423DENND3c.2192G>A (p.Gly731Asp)
c.1952G>A (p.Gly651Asp)
c.1796G>A (p.Gly599Asp)
c.1965G>A
n.1733G>A
c.1991G>A (p.Gly664Asp)
c.1835G>A (p.Gly612Asp)
c.1958G>A (p.Gly653Asp)
c.1448G>A (p.Gly483Asp)
c.1625G>A (p.Gly542Asp)
c.1619G>A (p.Gly540Asp)
c.1160G>A (p.Gly387Asp)
c.689G>A (p.Gly230Asp)
n.2121G>A
n.2288G>A
c.2036G>A (p.Gly679Asp)
c.728G>A (p.Gly243Asp)
n.2338G>A
n.2311G>A
8g.141168442G>CCA372344424DENND3c.2192G>C (p.Gly731Ala)
c.1952G>C (p.Gly651Ala)
c.1796G>C (p.Gly599Ala)
c.1965G>C
n.1733G>C
c.1991G>C (p.Gly664Ala)
c.1835G>C (p.Gly612Ala)
c.1958G>C (p.Gly653Ala)
c.1448G>C (p.Gly483Ala)
c.1625G>C (p.Gly542Ala)
c.1619G>C (p.Gly540Ala)
c.1160G>C (p.Gly387Ala)
c.689G>C (p.Gly230Ala)
n.2121G>C
n.2288G>C
c.2036G>C (p.Gly679Ala)
c.728G>C (p.Gly243Ala)
n.2338G>C
n.2311G>C
8g.141168442G>TCA372344422DENND3c.2192G>T (p.Gly731Val)
c.1952G>T (p.Gly651Val)
c.1796G>T (p.Gly599Val)
c.1965G>T
n.1733G>T
c.1991G>T (p.Gly664Val)
c.1835G>T (p.Gly612Val)
c.1958G>T (p.Gly653Val)
c.1448G>T (p.Gly483Val)
c.1625G>T (p.Gly542Val)
c.1619G>T (p.Gly540Val)
c.1160G>T (p.Gly387Val)
c.689G>T (p.Gly230Val)
n.2121G>T
n.2288G>T
c.2036G>T (p.Gly679Val)
c.728G>T (p.Gly243Val)
n.2338G>T
n.2311G>T
8g.141168443C>ACA4896826DENND3c.2193C>A (p.Gly731=)
c.1953C>A (p.Gly651=)
c.1797C>A (p.Gly599=)
c.1966C>A
n.1734C>A
c.1992C>A (p.Gly664=)
c.1836C>A (p.Gly612=)
c.1959C>A (p.Gly653=)
c.1449C>A (p.Gly483=)
c.1626C>A (p.Gly542=)
c.1620C>A (p.Gly540=)
c.1161C>A (p.Gly387=)
c.690C>A (p.Gly230=)
n.2122C>A
n.2289C>A
c.2037C>A (p.Gly679=)
c.729C>A (p.Gly243=)
n.2339C>A
n.2312C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168443C>GCA463497021DENND3c.2193C>G (p.Gly731=)
c.1953C>G (p.Gly651=)
c.1797C>G (p.Gly599=)
c.1966C>G
n.1734C>G
c.1992C>G (p.Gly664=)
c.1836C>G (p.Gly612=)
c.1959C>G (p.Gly653=)
c.1449C>G (p.Gly483=)
c.1626C>G (p.Gly542=)
c.1620C>G (p.Gly540=)
c.1161C>G (p.Gly387=)
c.690C>G (p.Gly230=)
n.2122C>G
n.2289C>G
c.2037C>G (p.Gly679=)
c.729C>G (p.Gly243=)
n.2339C>G
n.2312C>G
8g.141168443C>TCA4896827DENND3c.2193C>T (p.Gly731=)
c.1953C>T (p.Gly651=)
c.1797C>T (p.Gly599=)
c.1966C>T
n.1734C>T
c.1992C>T (p.Gly664=)
c.1836C>T (p.Gly612=)
c.1959C>T (p.Gly653=)
c.1449C>T (p.Gly483=)
c.1626C>T (p.Gly542=)
c.1620C>T (p.Gly540=)
c.1161C>T (p.Gly387=)
c.690C>T (p.Gly230=)
n.2122C>T
n.2289C>T
c.2037C>T (p.Gly679=)
c.729C>T (p.Gly243=)
n.2339C>T
n.2312C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168444G>ACA4896828DENND3c.2194G>A (p.Asp732Asn)
c.1954G>A (p.Asp652Asn)
c.1798G>A (p.Asp600Asn)
c.1967G>A
n.1735G>A
c.1993G>A (p.Asp665Asn)
c.1837G>A (p.Asp613Asn)
c.1960G>A (p.Asp654Asn)
c.1450G>A (p.Asp484Asn)
c.1627G>A (p.Asp543Asn)
c.1621G>A (p.Asp541Asn)
c.1162G>A (p.Asp388Asn)
c.691G>A (p.Asp231Asn)
n.2123G>A
n.2290G>A
c.2038G>A (p.Asp680Asn)
c.730G>A (p.Asp244Asn)
n.2340G>A
n.2313G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.141168444G>CCA372344425DENND3c.2194G>C (p.Asp732His)
c.1954G>C (p.Asp652His)
c.1798G>C (p.Asp600His)
c.1967G>C
n.1735G>C
c.1993G>C (p.Asp665His)
c.1837G>C (p.Asp613His)
c.1960G>C (p.Asp654His)
c.1450G>C (p.Asp484His)
c.1627G>C (p.Asp543His)
c.1621G>C (p.Asp541His)
c.1162G>C (p.Asp388His)
c.691G>C (p.Asp231His)
n.2123G>C
n.2290G>C
c.2038G>C (p.Asp680His)
c.730G>C (p.Asp244His)
n.2340G>C
n.2313G>C
8g.141168444G>TCA372344426DENND3c.2194G>T (p.Asp732Tyr)
c.1954G>T (p.Asp652Tyr)
c.1798G>T (p.Asp600Tyr)
c.1967G>T
n.1735G>T
c.1993G>T (p.Asp665Tyr)
c.1837G>T (p.Asp613Tyr)
c.1960G>T (p.Asp654Tyr)
c.1450G>T (p.Asp484Tyr)
c.1627G>T (p.Asp543Tyr)
c.1621G>T (p.Asp541Tyr)
c.1162G>T (p.Asp388Tyr)
c.691G>T (p.Asp231Tyr)
n.2123G>T
n.2290G>T
c.2038G>T (p.Asp680Tyr)
c.730G>T (p.Asp244Tyr)
n.2340G>T
n.2313G>T
8g.141168445delCA2688780441DENND3c.2195del (p.Asp732AlafsTer3)
c.1955del (p.Asp652AlafsTer3)
c.1799del (p.Asp600AlafsTer3)
c.1968del
n.1736del
c.1994del (p.Asp665AlafsTer3)
c.1838del (p.Asp613AlafsTer3)
c.1961del (p.Asp654AlafsTer3)
c.1451del (p.Asp484AlafsTer3)
c.1628del (p.Asp543AlafsTer3)
c.1622del (p.Asp541AlafsTer3)
c.1163del (p.Asp388AlafsTer3)
c.692del (p.Asp231AlafsTer3)
n.2124del
n.2291del
c.2039del (p.Asp680AlafsTer3)
c.731del (p.Asp244AlafsTer3)
n.2341del
n.2314del
 gnomAD v4
8g.141168445A>CCA372344427DENND3c.2195A>C (p.Asp732Ala)
c.1955A>C (p.Asp652Ala)
c.1799A>C (p.Asp600Ala)
c.1968A>C
n.1736A>C
c.1994A>C (p.Asp665Ala)
c.1838A>C (p.Asp613Ala)
c.1961A>C (p.Asp654Ala)
c.1451A>C (p.Asp484Ala)
c.1628A>C (p.Asp543Ala)
c.1622A>C (p.Asp541Ala)
c.1163A>C (p.Asp388Ala)
c.692A>C (p.Asp231Ala)
n.2124A>C
n.2291A>C
c.2039A>C (p.Asp680Ala)
c.731A>C (p.Asp244Ala)
n.2341A>C
n.2314A>C
8g.141168445A>GCA372344428DENND3c.2195A>G (p.Asp732Gly)
c.1955A>G (p.Asp652Gly)
c.1799A>G (p.Asp600Gly)
c.1968A>G
n.1736A>G
c.1994A>G (p.Asp665Gly)
c.1838A>G (p.Asp613Gly)
c.1961A>G (p.Asp654Gly)
c.1451A>G (p.Asp484Gly)
c.1628A>G (p.Asp543Gly)
c.1622A>G (p.Asp541Gly)
c.1163A>G (p.Asp388Gly)
c.692A>G (p.Asp231Gly)
n.2124A>G
n.2291A>G
c.2039A>G (p.Asp680Gly)
c.731A>G (p.Asp244Gly)
n.2341A>G
n.2314A>G
8g.141168445A>TCA372344429DENND3c.2195A>T (p.Asp732Val)
c.1955A>T (p.Asp652Val)
c.1799A>T (p.Asp600Val)
c.1968A>T
n.1736A>T
c.1994A>T (p.Asp665Val)
c.1838A>T (p.Asp613Val)
c.1961A>T (p.Asp654Val)
c.1451A>T (p.Asp484Val)
c.1628A>T (p.Asp543Val)
c.1622A>T (p.Asp541Val)
c.1163A>T (p.Asp388Val)
c.692A>T (p.Asp231Val)
n.2124A>T
n.2291A>T
c.2039A>T (p.Asp680Val)
c.731A>T (p.Asp244Val)
n.2341A>T
n.2314A>T
8g.141168446C>ACA4896829DENND3c.2196C>A (p.Asp732Glu)
c.1956C>A (p.Asp652Glu)
c.1800C>A (p.Asp600Glu)
c.1969C>A
n.1737C>A
c.1995C>A (p.Asp665Glu)
c.1839C>A (p.Asp613Glu)
c.1962C>A (p.Asp654Glu)
c.1452C>A (p.Asp484Glu)
c.1629C>A (p.Asp543Glu)
c.1623C>A (p.Asp541Glu)
c.1164C>A (p.Asp388Glu)
c.693C>A (p.Asp231Glu)
n.2125C>A
n.2292C>A
c.2040C>A (p.Asp680Glu)
c.732C>A (p.Asp244Glu)
n.2342C>A
n.2315C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168446C>GCA372344430DENND3c.2196C>G (p.Asp732Glu)
c.1956C>G (p.Asp652Glu)
c.1800C>G (p.Asp600Glu)
c.1969C>G
n.1737C>G
c.1995C>G (p.Asp665Glu)
c.1839C>G (p.Asp613Glu)
c.1962C>G (p.Asp654Glu)
c.1452C>G (p.Asp484Glu)
c.1629C>G (p.Asp543Glu)
c.1623C>G (p.Asp541Glu)
c.1164C>G (p.Asp388Glu)
c.693C>G (p.Asp231Glu)
n.2125C>G
n.2292C>G
c.2040C>G (p.Asp680Glu)
c.732C>G (p.Asp244Glu)
n.2342C>G
n.2315C>G
8g.141168446C>TCA463497024DENND3c.2196C>T (p.Asp732=)
c.1956C>T (p.Asp652=)
c.1800C>T (p.Asp600=)
c.1969C>T
n.1737C>T
c.1995C>T (p.Asp665=)
c.1839C>T (p.Asp613=)
c.1962C>T (p.Asp654=)
c.1452C>T (p.Asp484=)
c.1629C>T (p.Asp543=)
c.1623C>T (p.Asp541=)
c.1164C>T (p.Asp388=)
c.693C>T (p.Asp231=)
n.2125C>T
n.2292C>T
c.2040C>T (p.Asp680=)
c.732C>T (p.Asp244=)
n.2342C>T
n.2315C>T
 gnomAD v4
8g.141168447T>ACA372344431DENND3c.2197T>A (p.Phe733Ile)
c.1957T>A (p.Phe653Ile)
c.1801T>A (p.Phe601Ile)
c.1970T>A
n.1738T>A
c.1996T>A (p.Phe666Ile)
c.1840T>A (p.Phe614Ile)
c.1963T>A (p.Phe655Ile)
c.1453T>A (p.Phe485Ile)
c.1630T>A (p.Phe544Ile)
c.1624T>A (p.Phe542Ile)
c.1165T>A (p.Phe389Ile)
c.694T>A (p.Phe232Ile)
n.2126T>A
n.2293T>A
c.2041T>A (p.Phe681Ile)
c.733T>A (p.Phe245Ile)
n.2343T>A
n.2316T>A
8g.141168447T>CCA372344432DENND3c.2197T>C (p.Phe733Leu)
c.1957T>C (p.Phe653Leu)
c.1801T>C (p.Phe601Leu)
c.1970T>C
n.1738T>C
c.1996T>C (p.Phe666Leu)
c.1840T>C (p.Phe614Leu)
c.1963T>C (p.Phe655Leu)
c.1453T>C (p.Phe485Leu)
c.1630T>C (p.Phe544Leu)
c.1624T>C (p.Phe542Leu)
c.1165T>C (p.Phe389Leu)
c.694T>C (p.Phe232Leu)
n.2126T>C
n.2293T>C
c.2041T>C (p.Phe681Leu)
c.733T>C (p.Phe245Leu)
n.2343T>C
n.2316T>C
8g.141168447T>GCA372344433DENND3c.2197T>G (p.Phe733Val)
c.1957T>G (p.Phe653Val)
c.1801T>G (p.Phe601Val)
c.1970T>G
n.1738T>G
c.1996T>G (p.Phe666Val)
c.1840T>G (p.Phe614Val)
c.1963T>G (p.Phe655Val)
c.1453T>G (p.Phe485Val)
c.1630T>G (p.Phe544Val)
c.1624T>G (p.Phe542Val)
c.1165T>G (p.Phe389Val)
c.694T>G (p.Phe232Val)
n.2126T>G
n.2293T>G
c.2041T>G (p.Phe681Val)
c.733T>G (p.Phe245Val)
n.2343T>G
n.2316T>G
8g.141168448T>ACA372344436DENND3c.2198T>A (p.Phe733Tyr)
c.1958T>A (p.Phe653Tyr)
c.1802T>A (p.Phe601Tyr)
c.1971T>A
n.1739T>A
c.1997T>A (p.Phe666Tyr)
c.1841T>A (p.Phe614Tyr)
c.1964T>A (p.Phe655Tyr)
c.1454T>A (p.Phe485Tyr)
c.1631T>A (p.Phe544Tyr)
c.1625T>A (p.Phe542Tyr)
c.1166T>A (p.Phe389Tyr)
c.695T>A (p.Phe232Tyr)
n.2127T>A
n.2294T>A
c.2042T>A (p.Phe681Tyr)
c.734T>A (p.Phe245Tyr)
n.2344T>A
n.2317T>A
8g.141168448T>CCA372344435DENND3c.2198T>C (p.Phe733Ser)
c.1958T>C (p.Phe653Ser)
c.1802T>C (p.Phe601Ser)
c.1971T>C
n.1739T>C
c.1997T>C (p.Phe666Ser)
c.1841T>C (p.Phe614Ser)
c.1964T>C (p.Phe655Ser)
c.1454T>C (p.Phe485Ser)
c.1631T>C (p.Phe544Ser)
c.1625T>C (p.Phe542Ser)
c.1166T>C (p.Phe389Ser)
c.695T>C (p.Phe232Ser)
n.2127T>C
n.2294T>C
c.2042T>C (p.Phe681Ser)
c.734T>C (p.Phe245Ser)
n.2344T>C
n.2317T>C
8g.141168448T>GCA372344434DENND3c.2198T>G (p.Phe733Cys)
c.1958T>G (p.Phe653Cys)
c.1802T>G (p.Phe601Cys)
c.1971T>G
n.1739T>G
c.1997T>G (p.Phe666Cys)
c.1841T>G (p.Phe614Cys)
c.1964T>G (p.Phe655Cys)
c.1454T>G (p.Phe485Cys)
c.1631T>G (p.Phe544Cys)
c.1625T>G (p.Phe542Cys)
c.1166T>G (p.Phe389Cys)
c.695T>G (p.Phe232Cys)
n.2127T>G
n.2294T>G
c.2042T>G (p.Phe681Cys)
c.734T>G (p.Phe245Cys)
n.2344T>G
n.2317T>G
8g.141168448_141168449insTCTGGAGGGAGCA2688780442DENND3c.2198_2199insTCTGGAGGGAG (p.Met734LeufsTer5)
c.1958_1959insTCTGGAGGGAG (p.Met654LeufsTer5)
c.1802_1803insTCTGGAGGGAG (p.Met602LeufsTer5)
c.1971_1972insTCTGGAGGGAG
n.1739_1740insTCTGGAGGGAG
c.1997_1998insTCTGGAGGGAG (p.Met667LeufsTer5)
c.1841_1842insTCTGGAGGGAG (p.Met615LeufsTer5)
c.1964_1965insTCTGGAGGGAG (p.Met656LeufsTer5)
c.1454_1455insTCTGGAGGGAG (p.Met486LeufsTer5)
c.1631_1632insTCTGGAGGGAG (p.Met545LeufsTer5)
c.1625_1626insTCTGGAGGGAG (p.Met543LeufsTer5)
c.1166_1167insTCTGGAGGGAG (p.Met390LeufsTer5)
c.695_696insTCTGGAGGGAG (p.Met233LeufsTer5)
n.2127_2128insTCTGGAGGGAG
n.2294_2295insTCTGGAGGGAG
c.2042_2043insTCTGGAGGGAG (p.Met682LeufsTer5)
c.734_735insTCTGGAGGGAG (p.Met246LeufsTer5)
n.2344_2345insTCTGGAGGGAG
n.2317_2318insTCTGGAGGGAG
 gnomAD v4
8g.141168449C>ACA372344437DENND3c.2199C>A (p.Phe733Leu)
c.1959C>A (p.Phe653Leu)
c.1803C>A (p.Phe601Leu)
c.1972C>A
n.1740C>A
c.1998C>A (p.Phe666Leu)
c.1842C>A (p.Phe614Leu)
c.1965C>A (p.Phe655Leu)
c.1455C>A (p.Phe485Leu)
c.1632C>A (p.Phe544Leu)
c.1626C>A (p.Phe542Leu)
c.1167C>A (p.Phe389Leu)
c.696C>A (p.Phe232Leu)
n.2128C>A
n.2295C>A
c.2043C>A (p.Phe681Leu)
c.735C>A (p.Phe245Leu)
n.2345C>A
n.2318C>A
8g.141168449C>GCA372344438DENND3c.2199C>G (p.Phe733Leu)
c.1959C>G (p.Phe653Leu)
c.1803C>G (p.Phe601Leu)
c.1972C>G
n.1740C>G
c.1998C>G (p.Phe666Leu)
c.1842C>G (p.Phe614Leu)
c.1965C>G (p.Phe655Leu)
c.1455C>G (p.Phe485Leu)
c.1632C>G (p.Phe544Leu)
c.1626C>G (p.Phe542Leu)
c.1167C>G (p.Phe389Leu)
c.696C>G (p.Phe232Leu)
n.2128C>G
n.2295C>G
c.2043C>G (p.Phe681Leu)
c.735C>G (p.Phe245Leu)
n.2345C>G
n.2318C>G
8g.141168449C>TCA463497027DENND3c.2199C>T (p.Phe733=)
c.1959C>T (p.Phe653=)
c.1803C>T (p.Phe601=)
c.1972C>T
n.1740C>T
c.1998C>T (p.Phe666=)
c.1842C>T (p.Phe614=)
c.1965C>T (p.Phe655=)
c.1455C>T (p.Phe485=)
c.1632C>T (p.Phe544=)
c.1626C>T (p.Phe542=)
c.1167C>T (p.Phe389=)
c.696C>T (p.Phe232=)
n.2128C>T
n.2295C>T
c.2043C>T (p.Phe681=)
c.735C>T (p.Phe245=)
n.2345C>T
n.2318C>T
8g.141168450A>CCA372344439DENND3c.2200A>C (p.Met734Leu)
c.1960A>C (p.Met654Leu)
c.1804A>C (p.Met602Leu)
c.1973A>C
n.1741A>C
c.1999A>C (p.Met667Leu)
c.1843A>C (p.Met615Leu)
c.1966A>C (p.Met656Leu)
c.1456A>C (p.Met486Leu)
c.1633A>C (p.Met545Leu)
c.1627A>C (p.Met543Leu)
c.1168A>C (p.Met390Leu)
c.697A>C (p.Met233Leu)
n.2129A>C
n.2296A>C
c.2044A>C (p.Met682Leu)
c.736A>C (p.Met246Leu)
n.2346A>C
n.2319A>C
 gnomAD v4
8g.141168450A>GCA372344440DENND3c.2200A>G (p.Met734Val)
c.1960A>G (p.Met654Val)
c.1804A>G (p.Met602Val)
c.1973A>G
n.1741A>G
c.1999A>G (p.Met667Val)
c.1843A>G (p.Met615Val)
c.1966A>G (p.Met656Val)
c.1456A>G (p.Met486Val)
c.1633A>G (p.Met545Val)
c.1627A>G (p.Met543Val)
c.1168A>G (p.Met390Val)
c.697A>G (p.Met233Val)
n.2129A>G
n.2296A>G
c.2044A>G (p.Met682Val)
c.736A>G (p.Met246Val)
n.2346A>G
n.2319A>G
 COSMIC
8g.141168450A>TCA372344441DENND3c.2200A>T (p.Met734Leu)
c.1960A>T (p.Met654Leu)
c.1804A>T (p.Met602Leu)
c.1973A>T
n.1741A>T
c.1999A>T (p.Met667Leu)
c.1843A>T (p.Met615Leu)
c.1966A>T (p.Met656Leu)
c.1456A>T (p.Met486Leu)
c.1633A>T (p.Met545Leu)
c.1627A>T (p.Met543Leu)
c.1168A>T (p.Met390Leu)
c.697A>T (p.Met233Leu)
n.2129A>T
n.2296A>T
c.2044A>T (p.Met682Leu)
c.736A>T (p.Met246Leu)
n.2346A>T
n.2319A>T
8g.141168450_141168451insCACCCATTCTCATTTTATTTCA2688780443DENND3c.2200_2201insCACCCATTCTCATTTTATTT (p.Met734ThrfsTer8)
c.1960_1961insCACCCATTCTCATTTTATTT (p.Met654ThrfsTer8)
c.1804_1805insCACCCATTCTCATTTTATTT (p.Met602ThrfsTer8)
c.1973_1974insCACCCATTCTCATTTTATTT
n.1741_1742insCACCCATTCTCATTTTATTT
c.1999_2000insCACCCATTCTCATTTTATTT (p.Met667ThrfsTer8)
c.1843_1844insCACCCATTCTCATTTTATTT (p.Met615ThrfsTer8)
c.1966_1967insCACCCATTCTCATTTTATTT (p.Met656ThrfsTer8)
c.1456_1457insCACCCATTCTCATTTTATTT (p.Met486ThrfsTer8)
c.1633_1634insCACCCATTCTCATTTTATTT (p.Met545ThrfsTer8)
c.1627_1628insCACCCATTCTCATTTTATTT (p.Met543ThrfsTer8)
c.1168_1169insCACCCATTCTCATTTTATTT (p.Met390ThrfsTer8)
c.697_698insCACCCATTCTCATTTTATTT (p.Met233ThrfsTer8)
n.2129_2130insCACCCATTCTCATTTTATTT
n.2296_2297insCACCCATTCTCATTTTATTT
c.2044_2045insCACCCATTCTCATTTTATTT (p.Met682ThrfsTer8)
c.736_737insCACCCATTCTCATTTTATTT (p.Met246ThrfsTer8)
n.2346_2347insCACCCATTCTCATTTTATTT
n.2319_2320insCACCCATTCTCATTTTATTT
 gnomAD v4
8g.141168451T>ACA372344442DENND3c.2201T>A (p.Met734Lys)
c.1961T>A (p.Met654Lys)
c.1805T>A (p.Met602Lys)
c.1974T>A
n.1742T>A
c.2000T>A (p.Met667Lys)
c.1844T>A (p.Met615Lys)
c.1967T>A (p.Met656Lys)
c.1457T>A (p.Met486Lys)
c.1634T>A (p.Met545Lys)
c.1628T>A (p.Met543Lys)
c.1169T>A (p.Met390Lys)
c.698T>A (p.Met233Lys)
n.2130T>A
n.2297T>A
c.2045T>A (p.Met682Lys)
c.737T>A (p.Met246Lys)
n.2347T>A
n.2320T>A
8g.141168451T>CCA372344443DENND3c.2201T>C (p.Met734Thr)
c.1961T>C (p.Met654Thr)
c.1805T>C (p.Met602Thr)
c.1974T>C
n.1742T>C
c.2000T>C (p.Met667Thr)
c.1844T>C (p.Met615Thr)
c.1967T>C (p.Met656Thr)
c.1457T>C (p.Met486Thr)
c.1634T>C (p.Met545Thr)
c.1628T>C (p.Met543Thr)
c.1169T>C (p.Met390Thr)
c.698T>C (p.Met233Thr)
n.2130T>C
n.2297T>C
c.2045T>C (p.Met682Thr)
c.737T>C (p.Met246Thr)
n.2347T>C
n.2320T>C
8g.141168451T>GCA372344444DENND3c.2201T>G (p.Met734Arg)
c.1961T>G (p.Met654Arg)
c.1805T>G (p.Met602Arg)
c.1974T>G
n.1742T>G
c.2000T>G (p.Met667Arg)
c.1844T>G (p.Met615Arg)
c.1967T>G (p.Met656Arg)
c.1457T>G (p.Met486Arg)
c.1634T>G (p.Met545Arg)
c.1628T>G (p.Met543Arg)
c.1169T>G (p.Met390Arg)
c.698T>G (p.Met233Arg)
n.2130T>G
n.2297T>G
c.2045T>G (p.Met682Arg)
c.737T>G (p.Met246Arg)
n.2347T>G
n.2320T>G
8g.141168452G>ACA372344445DENND3c.2202G>A (p.Met734Ile)
c.1962G>A (p.Met654Ile)
c.1806G>A (p.Met602Ile)
c.1975G>A
n.1743G>A
c.2001G>A (p.Met667Ile)
c.1845G>A (p.Met615Ile)
c.1968G>A (p.Met656Ile)
c.1458G>A (p.Met486Ile)
c.1635G>A (p.Met545Ile)
c.1629G>A (p.Met543Ile)
c.1170G>A (p.Met390Ile)
c.699G>A (p.Met233Ile)
n.2131G>A
n.2298G>A
c.2046G>A (p.Met682Ile)
c.738G>A (p.Met246Ile)
n.2348G>A
n.2321G>A
8g.141168452G>CCA372344446DENND3c.2202G>C (p.Met734Ile)
c.1962G>C (p.Met654Ile)
c.1806G>C (p.Met602Ile)
c.1975G>C
n.1743G>C
c.2001G>C (p.Met667Ile)
c.1845G>C (p.Met615Ile)
c.1968G>C (p.Met656Ile)
c.1458G>C (p.Met486Ile)
c.1635G>C (p.Met545Ile)
c.1629G>C (p.Met543Ile)
c.1170G>C (p.Met390Ile)
c.699G>C (p.Met233Ile)
n.2131G>C
n.2298G>C
c.2046G>C (p.Met682Ile)
c.738G>C (p.Met246Ile)
n.2348G>C
n.2321G>C
8g.141168452G>TCA372344447DENND3c.2202G>T (p.Met734Ile)
c.1962G>T (p.Met654Ile)
c.1806G>T (p.Met602Ile)
c.1975G>T
n.1743G>T
c.2001G>T (p.Met667Ile)
c.1845G>T (p.Met615Ile)
c.1968G>T (p.Met656Ile)
c.1458G>T (p.Met486Ile)
c.1635G>T (p.Met545Ile)
c.1629G>T (p.Met543Ile)
c.1170G>T (p.Met390Ile)
c.699G>T (p.Met233Ile)
n.2131G>T
n.2298G>T
c.2046G>T (p.Met682Ile)
c.738G>T (p.Met246Ile)
n.2348G>T
n.2321G>T
8g.141168453A>CCA372344448DENND3c.2203A>C (p.Lys735Gln)
c.1963A>C (p.Lys655Gln)
c.1807A>C (p.Lys603Gln)
c.1976A>C
n.1744A>C
c.2002A>C (p.Lys668Gln)
c.1846A>C (p.Lys616Gln)
c.1969A>C (p.Lys657Gln)
c.1459A>C (p.Lys487Gln)
c.1636A>C (p.Lys546Gln)
c.1630A>C (p.Lys544Gln)
c.1171A>C (p.Lys391Gln)
c.700A>C (p.Lys234Gln)
n.2132A>C
n.2299A>C
c.2047A>C (p.Lys683Gln)
c.739A>C (p.Lys247Gln)
n.2349A>C
n.2322A>C
8g.141168453A>GCA372344449DENND3c.2203A>G (p.Lys735Glu)
c.1963A>G (p.Lys655Glu)
c.1807A>G (p.Lys603Glu)
c.1976A>G
n.1744A>G
c.2002A>G (p.Lys668Glu)
c.1846A>G (p.Lys616Glu)
c.1969A>G (p.Lys657Glu)
c.1459A>G (p.Lys487Glu)
c.1636A>G (p.Lys546Glu)
c.1630A>G (p.Lys544Glu)
c.1171A>G (p.Lys391Glu)
c.700A>G (p.Lys234Glu)
n.2132A>G
n.2299A>G
c.2047A>G (p.Lys683Glu)
c.739A>G (p.Lys247Glu)
n.2349A>G
n.2322A>G
 gnomAD v4
8g.141168453A>TCA372344450DENND3c.2203A>T (p.Lys735Ter)
c.1963A>T (p.Lys655Ter)
c.1807A>T (p.Lys603Ter)
c.1976A>T
n.1744A>T
c.2002A>T (p.Lys668Ter)
c.1846A>T (p.Lys616Ter)
c.1969A>T (p.Lys657Ter)
c.1459A>T (p.Lys487Ter)
c.1636A>T (p.Lys546Ter)
c.1630A>T (p.Lys544Ter)
c.1171A>T (p.Lys391Ter)
c.700A>T (p.Lys234Ter)
n.2132A>T
n.2299A>T
c.2047A>T (p.Lys683Ter)
c.739A>T (p.Lys247Ter)
n.2349A>T
n.2322A>T
8g.141168454A>CCA372344452DENND3c.2204A>C (p.Lys735Thr)
c.1964A>C (p.Lys655Thr)
c.1808A>C (p.Lys603Thr)
c.1977A>C
n.1745A>C
c.2003A>C (p.Lys668Thr)
c.1847A>C (p.Lys616Thr)
c.1970A>C (p.Lys657Thr)
c.1460A>C (p.Lys487Thr)
c.1637A>C (p.Lys546Thr)
c.1631A>C (p.Lys544Thr)
c.1172A>C (p.Lys391Thr)
c.701A>C (p.Lys234Thr)
n.2133A>C
n.2300A>C
c.2048A>C (p.Lys683Thr)
c.740A>C (p.Lys247Thr)
n.2350A>C
n.2323A>C
8g.141168454A>GCA372344453DENND3c.2204A>G (p.Lys735Arg)
c.1964A>G (p.Lys655Arg)
c.1808A>G (p.Lys603Arg)
c.1977A>G
n.1745A>G
c.2003A>G (p.Lys668Arg)
c.1847A>G (p.Lys616Arg)
c.1970A>G (p.Lys657Arg)
c.1460A>G (p.Lys487Arg)
c.1637A>G (p.Lys546Arg)
c.1631A>G (p.Lys544Arg)
c.1172A>G (p.Lys391Arg)
c.701A>G (p.Lys234Arg)
n.2133A>G
n.2300A>G
c.2048A>G (p.Lys683Arg)
c.740A>G (p.Lys247Arg)
n.2350A>G
n.2323A>G
8g.141168454A>TCA372344451DENND3c.2204A>T (p.Lys735Met)
c.1964A>T (p.Lys655Met)
c.1808A>T (p.Lys603Met)
c.1977A>T
n.1745A>T
c.2003A>T (p.Lys668Met)
c.1847A>T (p.Lys616Met)
c.1970A>T (p.Lys657Met)
c.1460A>T (p.Lys487Met)
c.1637A>T (p.Lys546Met)
c.1631A>T (p.Lys544Met)
c.1172A>T (p.Lys391Met)
c.701A>T (p.Lys234Met)
n.2133A>T
n.2300A>T
c.2048A>T (p.Lys683Met)
c.740A>T (p.Lys247Met)
n.2350A>T
n.2323A>T
8g.141168455G>ACA463497032DENND3c.2205G>A (p.Lys735=)
c.1965G>A (p.Lys655=)
c.1809G>A (p.Lys603=)
c.1978G>A
n.1746G>A
c.2004G>A (p.Lys668=)
c.1848G>A (p.Lys616=)
c.1971G>A (p.Lys657=)
c.1461G>A (p.Lys487=)
c.1638G>A (p.Lys546=)
c.1632G>A (p.Lys544=)
c.1173G>A (p.Lys391=)
c.702G>A (p.Lys234=)
n.2134G>A
n.2301G>A
c.2049G>A (p.Lys683=)
c.741G>A (p.Lys247=)
n.2351G>A
n.2324G>A
8g.141168455G>CCA372344454DENND3c.2205G>C (p.Lys735Asn)
c.1965G>C (p.Lys655Asn)
c.1809G>C (p.Lys603Asn)
c.1978G>C
n.1746G>C
c.2004G>C (p.Lys668Asn)
c.1848G>C (p.Lys616Asn)
c.1971G>C (p.Lys657Asn)
c.1461G>C (p.Lys487Asn)
c.1638G>C (p.Lys546Asn)
c.1632G>C (p.Lys544Asn)
c.1173G>C (p.Lys391Asn)
c.702G>C (p.Lys234Asn)
n.2134G>C
n.2301G>C
c.2049G>C (p.Lys683Asn)
c.741G>C (p.Lys247Asn)
n.2351G>C
n.2324G>C
8g.141168455G>TCA372344455DENND3c.2205G>T (p.Lys735Asn)
c.1965G>T (p.Lys655Asn)
c.1809G>T (p.Lys603Asn)
c.1978G>T
n.1746G>T
c.2004G>T (p.Lys668Asn)
c.1848G>T (p.Lys616Asn)
c.1971G>T (p.Lys657Asn)
c.1461G>T (p.Lys487Asn)
c.1638G>T (p.Lys546Asn)
c.1632G>T (p.Lys544Asn)
c.1173G>T (p.Lys391Asn)
c.702G>T (p.Lys234Asn)
n.2134G>T
n.2301G>T
c.2049G>T (p.Lys683Asn)
c.741G>T (p.Lys247Asn)
n.2351G>T
n.2324G>T
8g.141168456C>ACA463497034DENND3c.2206C>A (p.Arg736=)
c.1966C>A (p.Arg656=)
c.1810C>A (p.Arg604=)
c.1979C>A
n.1747C>A
c.2005C>A (p.Arg669=)
c.1849C>A (p.Arg617=)
c.1972C>A (p.Arg658=)
c.1462C>A (p.Arg488=)
c.1639C>A (p.Arg547=)
c.1633C>A (p.Arg545=)
c.1174C>A (p.Arg392=)
c.703C>A (p.Arg235=)
n.2135C>A
n.2302C>A
c.2050C>A (p.Arg684=)
c.742C>A (p.Arg248=)
n.2352C>A
n.2325C>A
 gnomAD v4
8g.141168456C>GCA372344456DENND3c.2206C>G (p.Arg736Gly)
c.1966C>G (p.Arg656Gly)
c.1810C>G (p.Arg604Gly)
c.1979C>G
n.1747C>G
c.2005C>G (p.Arg669Gly)
c.1849C>G (p.Arg617Gly)
c.1972C>G (p.Arg658Gly)
c.1462C>G (p.Arg488Gly)
c.1639C>G (p.Arg547Gly)
c.1633C>G (p.Arg545Gly)
c.1174C>G (p.Arg392Gly)
c.703C>G (p.Arg235Gly)
n.2135C>G
n.2302C>G
c.2050C>G (p.Arg684Gly)
c.742C>G (p.Arg248Gly)
n.2352C>G
n.2325C>G
 gnomAD v4
8g.141168456C>TCA4896830DENND3c.2206C>T (p.Arg736Trp)
c.1966C>T (p.Arg656Trp)
c.1810C>T (p.Arg604Trp)
c.1979C>T
n.1747C>T
c.2005C>T (p.Arg669Trp)
c.1849C>T (p.Arg617Trp)
c.1972C>T (p.Arg658Trp)
c.1462C>T (p.Arg488Trp)
c.1639C>T (p.Arg547Trp)
c.1633C>T (p.Arg545Trp)
c.1174C>T (p.Arg392Trp)
c.703C>T (p.Arg235Trp)
n.2135C>T
n.2302C>T
c.2050C>T (p.Arg684Trp)
c.742C>T (p.Arg248Trp)
n.2352C>T
n.2325C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.141168457G>ACA187325866DENND3c.2207G>A (p.Arg736Gln)
c.1967G>A (p.Arg656Gln)
c.1811G>A (p.Arg604Gln)
c.1980G>A
n.1748G>A
c.2006G>A (p.Arg669Gln)
c.1850G>A (p.Arg617Gln)
c.1973G>A (p.Arg658Gln)
c.1463G>A (p.Arg488Gln)
c.1640G>A (p.Arg547Gln)
c.1634G>A (p.Arg545Gln)
c.1175G>A (p.Arg392Gln)
c.704G>A (p.Arg235Gln)
n.2136G>A
n.2303G>A
c.2051G>A (p.Arg684Gln)
c.743G>A (p.Arg248Gln)
n.2353G>A
n.2326G>A
 dbSNP gnomAD v4
8g.141168457G>CCA372344457DENND3c.2207G>C (p.Arg736Pro)
c.1967G>C (p.Arg656Pro)
c.1811G>C (p.Arg604Pro)
c.1980G>C
n.1748G>C
c.2006G>C (p.Arg669Pro)
c.1850G>C (p.Arg617Pro)
c.1973G>C (p.Arg658Pro)
c.1463G>C (p.Arg488Pro)
c.1640G>C (p.Arg547Pro)
c.1634G>C (p.Arg545Pro)
c.1175G>C (p.Arg392Pro)
c.704G>C (p.Arg235Pro)
n.2136G>C
n.2303G>C
c.2051G>C (p.Arg684Pro)
c.743G>C (p.Arg248Pro)
n.2353G>C
n.2326G>C
8g.141168457G>TCA372344458DENND3c.2207G>T (p.Arg736Leu)
c.1967G>T (p.Arg656Leu)
c.1811G>T (p.Arg604Leu)
c.1980G>T
n.1748G>T
c.2006G>T (p.Arg669Leu)
c.1850G>T (p.Arg617Leu)
c.1973G>T (p.Arg658Leu)
c.1463G>T (p.Arg488Leu)
c.1640G>T (p.Arg547Leu)
c.1634G>T (p.Arg545Leu)
c.1175G>T (p.Arg392Leu)
c.704G>T (p.Arg235Leu)
n.2136G>T
n.2303G>T
c.2051G>T (p.Arg684Leu)
c.743G>T (p.Arg248Leu)
n.2353G>T
n.2326G>T
 dbSNP
8g.141168458G>ACA463497035DENND3c.2208G>A (p.Arg736=)
c.1968G>A (p.Arg656=)
c.1812G>A (p.Arg604=)
c.1981G>A
n.1749G>A
c.2007G>A (p.Arg669=)
c.1851G>A (p.Arg617=)
c.1974G>A (p.Arg658=)
c.1464G>A (p.Arg488=)
c.1641G>A (p.Arg547=)
c.1635G>A (p.Arg545=)
c.1176G>A (p.Arg392=)
c.705G>A (p.Arg235=)
n.2137G>A
n.2304G>A
c.2052G>A (p.Arg684=)
c.744G>A (p.Arg248=)
n.2354G>A
n.2327G>A
8g.141168458G>CCA463497036DENND3c.2208G>C (p.Arg736=)
c.1968G>C (p.Arg656=)
c.1812G>C (p.Arg604=)
c.1981G>C
n.1749G>C
c.2007G>C (p.Arg669=)
c.1851G>C (p.Arg617=)
c.1974G>C (p.Arg658=)
c.1464G>C (p.Arg488=)
c.1641G>C (p.Arg547=)
c.1635G>C (p.Arg545=)
c.1176G>C (p.Arg392=)
c.705G>C (p.Arg235=)
n.2137G>C
n.2304G>C
c.2052G>C (p.Arg684=)
c.744G>C (p.Arg248=)
n.2354G>C
n.2327G>C
8g.141168458G>TCA463497038DENND3c.2208G>T (p.Arg736=)
c.1968G>T (p.Arg656=)
c.1812G>T (p.Arg604=)
c.1981G>T
n.1749G>T
c.2007G>T (p.Arg669=)
c.1851G>T (p.Arg617=)
c.1974G>T (p.Arg658=)
c.1464G>T (p.Arg488=)
c.1641G>T (p.Arg547=)
c.1635G>T (p.Arg545=)
c.1176G>T (p.Arg392=)
c.705G>T (p.Arg235=)
n.2137G>T
n.2304G>T
c.2052G>T (p.Arg684=)
c.744G>T (p.Arg248=)
n.2354G>T
n.2327G>T
8g.141168459G>ACA372344459DENND3c.2209G>A (p.Val737Ile)
c.1969G>A (p.Val657Ile)
c.1813G>A (p.Val605Ile)
c.1982G>A
n.1750G>A
c.2008G>A (p.Val670Ile)
c.1852G>A (p.Val618Ile)
c.1975G>A (p.Val659Ile)
c.1465G>A (p.Val489Ile)
c.1642G>A (p.Val548Ile)
c.1636G>A (p.Val546Ile)
c.1177G>A (p.Val393Ile)
c.706G>A (p.Val236Ile)
n.2138G>A
n.2305G>A
c.2053G>A (p.Val685Ile)
c.745G>A (p.Val249Ile)
n.2355G>A
n.2328G>A
 dbSNP gnomAD v4
8g.141168459G>CCA372344460DENND3c.2209G>C (p.Val737Leu)
c.1969G>C (p.Val657Leu)
c.1813G>C (p.Val605Leu)
c.1982G>C
n.1750G>C
c.2008G>C (p.Val670Leu)
c.1852G>C (p.Val618Leu)
c.1975G>C (p.Val659Leu)
c.1465G>C (p.Val489Leu)
c.1642G>C (p.Val548Leu)
c.1636G>C (p.Val546Leu)
c.1177G>C (p.Val393Leu)
c.706G>C (p.Val236Leu)
n.2138G>C
n.2305G>C
c.2053G>C (p.Val685Leu)
c.745G>C (p.Val249Leu)
n.2355G>C
n.2328G>C
8g.141168459G>TCA372344461DENND3c.2209G>T (p.Val737Phe)
c.1969G>T (p.Val657Phe)
c.1813G>T (p.Val605Phe)
c.1982G>T
n.1750G>T
c.2008G>T (p.Val670Phe)
c.1852G>T (p.Val618Phe)
c.1975G>T (p.Val659Phe)
c.1465G>T (p.Val489Phe)
c.1642G>T (p.Val548Phe)
c.1636G>T (p.Val546Phe)
c.1177G>T (p.Val393Phe)
c.706G>T (p.Val236Phe)
n.2138G>T
n.2305G>T
c.2053G>T (p.Val685Phe)
c.745G>T (p.Val249Phe)
n.2355G>T
n.2328G>T
 dbSNP gnomAD v2 gnomAD v4
8g.141168460T>ACA372344462DENND3c.2210T>A (p.Val737Asp)
c.1970T>A (p.Val657Asp)
c.1814T>A (p.Val605Asp)
c.1983T>A
n.1751T>A
c.2009T>A (p.Val670Asp)
c.1853T>A (p.Val618Asp)
c.1976T>A (p.Val659Asp)
c.1466T>A (p.Val489Asp)
c.1643T>A (p.Val548Asp)
c.1637T>A (p.Val546Asp)
c.1178T>A (p.Val393Asp)
c.707T>A (p.Val236Asp)
n.2139T>A
n.2306T>A
c.2054T>A (p.Val685Asp)
c.746T>A (p.Val249Asp)
n.2356T>A
n.2329T>A
8g.141168460T>CCA372344463DENND3c.2210T>C (p.Val737Ala)
c.1970T>C (p.Val657Ala)
c.1814T>C (p.Val605Ala)
c.1983T>C
n.1751T>C
c.2009T>C (p.Val670Ala)
c.1853T>C (p.Val618Ala)
c.1976T>C (p.Val659Ala)
c.1466T>C (p.Val489Ala)
c.1643T>C (p.Val548Ala)
c.1637T>C (p.Val546Ala)
c.1178T>C (p.Val393Ala)
c.707T>C (p.Val236Ala)
n.2139T>C
n.2306T>C
c.2054T>C (p.Val685Ala)
c.746T>C (p.Val249Ala)
n.2356T>C
n.2329T>C
 gnomAD v4
8g.141168460T>GCA372344464DENND3c.2210T>G (p.Val737Gly)
c.1970T>G (p.Val657Gly)
c.1814T>G (p.Val605Gly)
c.1983T>G
n.1751T>G
c.2009T>G (p.Val670Gly)
c.1853T>G (p.Val618Gly)
c.1976T>G (p.Val659Gly)
c.1466T>G (p.Val489Gly)
c.1643T>G (p.Val548Gly)
c.1637T>G (p.Val546Gly)
c.1178T>G (p.Val393Gly)
c.707T>G (p.Val236Gly)
n.2139T>G
n.2306T>G
c.2054T>G (p.Val685Gly)
c.746T>G (p.Val249Gly)
n.2356T>G
n.2329T>G
8g.141168461C>ACA463497044DENND3c.2211C>A (p.Val737=)
c.1971C>A (p.Val657=)
c.1815C>A (p.Val605=)
c.1984C>A
n.1752C>A
c.2010C>A (p.Val670=)
c.1854C>A (p.Val618=)
c.1977C>A (p.Val659=)
c.1467C>A (p.Val489=)
c.1644C>A (p.Val548=)
c.1638C>A (p.Val546=)
c.1179C>A (p.Val393=)
c.708C>A (p.Val236=)
n.2140C>A
n.2307C>A
c.2055C>A (p.Val685=)
c.747C>A (p.Val249=)
n.2357C>A
n.2330C>A
8g.141168461C>GCA463497045DENND3c.2211C>G (p.Val737=)
c.1971C>G (p.Val657=)
c.1815C>G (p.Val605=)
c.1984C>G
n.1752C>G
c.2010C>G (p.Val670=)
c.1854C>G (p.Val618=)
c.1977C>G (p.Val659=)
c.1467C>G (p.Val489=)
c.1644C>G (p.Val548=)
c.1638C>G (p.Val546=)
c.1179C>G (p.Val393=)
c.708C>G (p.Val236=)
n.2140C>G
n.2307C>G
c.2055C>G (p.Val685=)
c.747C>G (p.Val249=)
n.2357C>G
n.2330C>G
8g.141168461C>TCA463497042DENND3c.2211C>T (p.Val737=)
c.1971C>T (p.Val657=)
c.1815C>T (p.Val605=)
c.1984C>T
n.1752C>T
c.2010C>T (p.Val670=)
c.1854C>T (p.Val618=)
c.1977C>T (p.Val659=)
c.1467C>T (p.Val489=)
c.1644C>T (p.Val548=)
c.1638C>T (p.Val546=)
c.1179C>T (p.Val393=)
c.708C>T (p.Val236=)
n.2140C>T
n.2307C>T
c.2055C>T (p.Val685=)
c.747C>T (p.Val249=)
n.2357C>T
n.2330C>T
8g.141168462C>ACA372344467DENND3c.2212C>A (p.Gln738Lys)
c.1972C>A (p.Gln658Lys)
c.1816C>A (p.Gln606Lys)
c.1985C>A
n.1753C>A
c.2011C>A (p.Gln671Lys)
c.1855C>A (p.Gln619Lys)
c.1978C>A (p.Gln660Lys)
c.1468C>A (p.Gln490Lys)
c.1645C>A (p.Gln549Lys)
c.1639C>A (p.Gln547Lys)
c.1180C>A (p.Gln394Lys)
c.709C>A (p.Gln237Lys)
n.2141C>A
n.2308C>A
c.2056C>A (p.Gln686Lys)
c.748C>A (p.Gln250Lys)
n.2358C>A
n.2331C>A
8g.141168462C>GCA372344465DENND3c.2212C>G (p.Gln738Glu)
c.1972C>G (p.Gln658Glu)
c.1816C>G (p.Gln606Glu)
c.1985C>G
n.1753C>G
c.2011C>G (p.Gln671Glu)
c.1855C>G (p.Gln619Glu)
c.1978C>G (p.Gln660Glu)
c.1468C>G (p.Gln490Glu)
c.1645C>G (p.Gln549Glu)
c.1639C>G (p.Gln547Glu)
c.1180C>G (p.Gln394Glu)
c.709C>G (p.Gln237Glu)
n.2141C>G
n.2308C>G
c.2056C>G (p.Gln686Glu)
c.748C>G (p.Gln250Glu)
n.2358C>G
n.2331C>G
8g.141168462C>TCA372344466DENND3c.2212C>T (p.Gln738Ter)
c.1972C>T (p.Gln658Ter)
c.1816C>T (p.Gln606Ter)
c.1985C>T
n.1753C>T
c.2011C>T (p.Gln671Ter)
c.1855C>T (p.Gln619Ter)
c.1978C>T (p.Gln660Ter)
c.1468C>T (p.Gln490Ter)
c.1645C>T (p.Gln549Ter)
c.1639C>T (p.Gln547Ter)
c.1180C>T (p.Gln394Ter)
c.709C>T (p.Gln237Ter)
n.2141C>T
n.2308C>T
c.2056C>T (p.Gln686Ter)
c.748C>T (p.Gln250Ter)
n.2358C>T
n.2331C>T
8g.141168463A>CCA372344468DENND3c.2213A>C (p.Gln738Pro)
c.1973A>C (p.Gln658Pro)
c.1817A>C (p.Gln606Pro)
c.1986A>C
n.1754A>C
c.2012A>C (p.Gln671Pro)
c.1856A>C (p.Gln619Pro)
c.1979A>C (p.Gln660Pro)
c.1469A>C (p.Gln490Pro)
c.1646A>C (p.Gln549Pro)
c.1640A>C (p.Gln547Pro)
c.1181A>C (p.Gln394Pro)
c.710A>C (p.Gln237Pro)
n.2142A>C
n.2309A>C
c.2057A>C (p.Gln686Pro)
c.749A>C (p.Gln250Pro)
n.2359A>C
n.2332A>C
 gnomAD v4
8g.141168463A>GCA372344470DENND3c.2213A>G (p.Gln738Arg)
c.1973A>G (p.Gln658Arg)
c.1817A>G (p.Gln606Arg)
c.1986A>G
n.1754A>G
c.2012A>G (p.Gln671Arg)
c.1856A>G (p.Gln619Arg)
c.1979A>G (p.Gln660Arg)
c.1469A>G (p.Gln490Arg)
c.1646A>G (p.Gln549Arg)
c.1640A>G (p.Gln547Arg)
c.1181A>G (p.Gln394Arg)
c.710A>G (p.Gln237Arg)
n.2142A>G
n.2309A>G
c.2057A>G (p.Gln686Arg)
c.749A>G (p.Gln250Arg)
n.2359A>G
n.2332A>G
8g.141168463A>TCA372344477DENND3c.2213A>T (p.Gln738Leu)
c.1973A>T (p.Gln658Leu)
c.1817A>T (p.Gln606Leu)
c.1986A>T
n.1754A>T
c.2012A>T (p.Gln671Leu)
c.1856A>T (p.Gln619Leu)
c.1979A>T (p.Gln660Leu)
c.1469A>T (p.Gln490Leu)
c.1646A>T (p.Gln549Leu)
c.1640A>T (p.Gln547Leu)
c.1181A>T (p.Gln394Leu)
c.710A>T (p.Gln237Leu)
n.2142A>T
n.2309A>T
c.2057A>T (p.Gln686Leu)
c.749A>T (p.Gln250Leu)
n.2359A>T
n.2332A>T
8g.141168464G>ACA463497049DENND3c.2214G>A (p.Gln738=)
c.1974G>A (p.Gln658=)
c.1818G>A (p.Gln606=)
c.1987G>A
n.1755G>A
c.2013G>A (p.Gln671=)
c.1857G>A (p.Gln619=)
c.1980G>A (p.Gln660=)
c.1470G>A (p.Gln490=)
c.1647G>A (p.Gln549=)
c.1641G>A (p.Gln547=)
c.1182G>A (p.Gln394=)
c.711G>A (p.Gln237=)
n.2143G>A
n.2310G>A
c.2058G>A (p.Gln686=)
c.750G>A (p.Gln250=)
n.2360G>A
n.2333G>A
 gnomAD v4
8g.141168464G>CCA372344479DENND3c.2214G>C (p.Gln738His)
c.1974G>C (p.Gln658His)
c.1818G>C (p.Gln606His)
c.1987G>C
n.1755G>C
c.2013G>C (p.Gln671His)
c.1857G>C (p.Gln619His)
c.1980G>C (p.Gln660His)
c.1470G>C (p.Gln490His)
c.1647G>C (p.Gln549His)
c.1641G>C (p.Gln547His)
c.1182G>C (p.Gln394His)
c.711G>C (p.Gln237His)
n.2143G>C
n.2310G>C
c.2058G>C (p.Gln686His)
c.750G>C (p.Gln250His)
n.2360G>C
n.2333G>C
8g.141168464G>TCA372344481DENND3c.2214G>T (p.Gln738His)
c.1974G>T (p.Gln658His)
c.1818G>T (p.Gln606His)
c.1987G>T
n.1755G>T
c.2013G>T (p.Gln671His)
c.1857G>T (p.Gln619His)
c.1980G>T (p.Gln660His)
c.1470G>T (p.Gln490His)
c.1647G>T (p.Gln549His)
c.1641G>T (p.Gln547His)
c.1182G>T (p.Gln394His)
c.711G>T (p.Gln237His)
n.2143G>T
n.2310G>T
c.2058G>T (p.Gln686His)
c.750G>T (p.Gln250His)
n.2360G>T
n.2333G>T
8g.141168465G>ACA372344483DENND3c.2215G>A (p.Glu739Lys)
c.1975G>A (p.Glu659Lys)
c.1819G>A (p.Glu607Lys)
c.1988G>A
n.1756G>A
c.2014G>A (p.Glu672Lys)
c.1858G>A (p.Glu620Lys)
c.1981G>A (p.Glu661Lys)
c.1471G>A (p.Glu491Lys)
c.1648G>A (p.Glu550Lys)
c.1642G>A (p.Glu548Lys)
c.1183G>A (p.Glu395Lys)
c.712G>A (p.Glu238Lys)
n.2144G>A
n.2311G>A
c.2059G>A (p.Glu687Lys)
c.751G>A (p.Glu251Lys)
n.2361G>A
n.2334G>A
8g.141168465G>CCA372344485DENND3c.2215G>C (p.Glu739Gln)
c.1975G>C (p.Glu659Gln)
c.1819G>C (p.Glu607Gln)
c.1988G>C
n.1756G>C
c.2014G>C (p.Glu672Gln)
c.1858G>C (p.Glu620Gln)
c.1981G>C (p.Glu661Gln)
c.1471G>C (p.Glu491Gln)
c.1648G>C (p.Glu550Gln)
c.1642G>C (p.Glu548Gln)
c.1183G>C (p.Glu395Gln)
c.712G>C (p.Glu238Gln)
n.2144G>C
n.2311G>C
c.2059G>C (p.Glu687Gln)
c.751G>C (p.Glu251Gln)
n.2361G>C
n.2334G>C
8g.141168465G>TCA372344487DENND3c.2215G>T (p.Glu739Ter)
c.1975G>T (p.Glu659Ter)
c.1819G>T (p.Glu607Ter)
c.1988G>T
n.1756G>T
c.2014G>T (p.Glu672Ter)
c.1858G>T (p.Glu620Ter)
c.1981G>T (p.Glu661Ter)
c.1471G>T (p.Glu491Ter)
c.1648G>T (p.Glu550Ter)
c.1642G>T (p.Glu548Ter)
c.1183G>T (p.Glu395Ter)
c.712G>T (p.Glu238Ter)
n.2144G>T
n.2311G>T
c.2059G>T (p.Glu687Ter)
c.751G>T (p.Glu251Ter)
n.2361G>T
n.2334G>T
8g.141168466A>CCA372344489DENND3c.2216A>C (p.Glu739Ala)
c.1976A>C (p.Glu659Ala)
c.1820A>C (p.Glu607Ala)
c.1989A>C
n.1757A>C
c.2015A>C (p.Glu672Ala)
c.1859A>C (p.Glu620Ala)
c.1982A>C (p.Glu661Ala)
c.1472A>C (p.Glu491Ala)
c.1649A>C (p.Glu550Ala)
c.1643A>C (p.Glu548Ala)
c.1184A>C (p.Glu395Ala)
c.713A>C (p.Glu238Ala)
n.2145A>C
n.2312A>C
c.2060A>C (p.Glu687Ala)
c.752A>C (p.Glu251Ala)
n.2362A>C
n.2335A>C
8g.141168466A>GCA372344491DENND3c.2216A>G (p.Glu739Gly)
c.1976A>G (p.Glu659Gly)
c.1820A>G (p.Glu607Gly)
c.1989A>G
n.1757A>G
c.2015A>G (p.Glu672Gly)
c.1859A>G (p.Glu620Gly)
c.1982A>G (p.Glu661Gly)
c.1472A>G (p.Glu491Gly)
c.1649A>G (p.Glu550Gly)
c.1643A>G (p.Glu548Gly)
c.1184A>G (p.Glu395Gly)
c.713A>G (p.Glu238Gly)
n.2145A>G
n.2312A>G
c.2060A>G (p.Glu687Gly)
c.752A>G (p.Glu251Gly)
n.2362A>G
n.2335A>G
8g.141168466A>TCA372344493DENND3c.2216A>T (p.Glu739Val)
c.1976A>T (p.Glu659Val)
c.1820A>T (p.Glu607Val)
c.1989A>T
n.1757A>T
c.2015A>T (p.Glu672Val)
c.1859A>T (p.Glu620Val)
c.1982A>T (p.Glu661Val)
c.1472A>T (p.Glu491Val)
c.1649A>T (p.Glu550Val)
c.1643A>T (p.Glu548Val)
c.1184A>T (p.Glu395Val)
c.713A>T (p.Glu238Val)
n.2145A>T
n.2312A>T
c.2060A>T (p.Glu687Val)
c.752A>T (p.Glu251Val)
n.2362A>T
n.2335A>T
8g.141168467G>ACA463497051DENND3c.2217G>A (p.Glu739=)
c.1977G>A (p.Glu659=)
c.1821G>A (p.Glu607=)
c.1990G>A
n.1758G>A
c.2016G>A (p.Glu672=)
c.1860G>A (p.Glu620=)
c.1983G>A (p.Glu661=)
c.1473G>A (p.Glu491=)
c.1650G>A (p.Glu550=)
c.1644G>A (p.Glu548=)
c.1185G>A (p.Glu395=)
c.714G>A (p.Glu238=)
n.2146G>A
n.2313G>A
c.2061G>A (p.Glu687=)
c.753G>A (p.Glu251=)
n.2363G>A
n.2336G>A
8g.141168467G>CCA372344495DENND3c.2217G>C (p.Glu739Asp)
c.1977G>C (p.Glu659Asp)
c.1821G>C (p.Glu607Asp)
c.1990G>C
n.1758G>C
c.2016G>C (p.Glu672Asp)
c.1860G>C (p.Glu620Asp)
c.1983G>C (p.Glu661Asp)
c.1473G>C (p.Glu491Asp)
c.1650G>C (p.Glu550Asp)
c.1644G>C (p.Glu548Asp)
c.1185G>C (p.Glu395Asp)
c.714G>C (p.Glu238Asp)
n.2146G>C
n.2313G>C
c.2061G>C (p.Glu687Asp)
c.753G>C (p.Glu251Asp)
n.2363G>C
n.2336G>C
8g.141168467G>TCA372344497DENND3c.2217G>T (p.Glu739Asp)
c.1977G>T (p.Glu659Asp)
c.1821G>T (p.Glu607Asp)
c.1990G>T
n.1758G>T
c.2016G>T (p.Glu672Asp)
c.1860G>T (p.Glu620Asp)
c.1983G>T (p.Glu661Asp)
c.1473G>T (p.Glu491Asp)
c.1650G>T (p.Glu550Asp)
c.1644G>T (p.Glu548Asp)
c.1185G>T (p.Glu395Asp)
c.714G>T (p.Glu238Asp)
n.2146G>T
n.2313G>T
c.2061G>T (p.Glu687Asp)
c.753G>T (p.Glu251Asp)
n.2363G>T
n.2336G>T

Number of alleles fetched