Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.141168320_141168336dup | CA2579262222 | DENND3 | c.2070_2086dup (p.Glu696GlyfsTer8) c.1830_1846dup (p.Glu616GlyfsTer8) c.1674_1690dup (p.Glu564GlyfsTer8) c.1843_1859dup n.1611_1627dup c.1869_1885dup (p.Glu629GlyfsTer8) c.1713_1729dup (p.Glu577GlyfsTer8) c.1836_1852dup (p.Glu618GlyfsTer8) c.1326_1342dup (p.Glu448GlyfsTer8) c.1503_1519dup (p.Glu507GlyfsTer8) c.1497_1513dup (p.Glu505GlyfsTer8) c.1038_1054dup (p.Glu352GlyfsTer8) c.567_583dup (p.Glu195GlyfsTer8) n.1999_2015dup n.2166_2182dup c.1914_1930dup (p.Glu644GlyfsTer8) c.606_622dup (p.Glu208GlyfsTer8) n.2216_2232dup n.2189_2205dup | gnomAD v4 |
8 | g.141168336del | CA2497242493 | DENND3 | c.2086del (p.Glu696SerfsTer2) c.1846del (p.Glu616SerfsTer2) c.1690del (p.Glu564SerfsTer2) c.1859del n.1627del c.1885del (p.Glu629SerfsTer2) c.1729del (p.Glu577SerfsTer2) c.1852del (p.Glu618SerfsTer2) c.1342del (p.Glu448SerfsTer2) c.1519del (p.Glu507SerfsTer2) c.1513del (p.Glu505SerfsTer2) c.1054del (p.Glu352SerfsTer2) c.583del (p.Glu195SerfsTer2) n.2015del n.2182del c.1930del (p.Glu644SerfsTer2) c.622del (p.Glu208SerfsTer2) n.2232del n.2205del | dbSNP |
8 | g.141168336G>A | CA372344181 | DENND3 | c.2086G>A (p.Glu696Lys) c.1846G>A (p.Glu616Lys) c.1690G>A (p.Glu564Lys) c.1859G>A n.1627G>A c.1885G>A (p.Glu629Lys) c.1729G>A (p.Glu577Lys) c.1852G>A (p.Glu618Lys) c.1342G>A (p.Glu448Lys) c.1519G>A (p.Glu507Lys) c.1513G>A (p.Glu505Lys) c.1054G>A (p.Glu352Lys) c.583G>A (p.Glu195Lys) n.2015G>A n.2182G>A c.1930G>A (p.Glu644Lys) c.622G>A (p.Glu208Lys) n.2232G>A n.2205G>A | |
8 | g.141168336G>C | CA372344182 | DENND3 | c.2086G>C (p.Glu696Gln) c.1846G>C (p.Glu616Gln) c.1690G>C (p.Glu564Gln) c.1859G>C n.1627G>C c.1885G>C (p.Glu629Gln) c.1729G>C (p.Glu577Gln) c.1852G>C (p.Glu618Gln) c.1342G>C (p.Glu448Gln) c.1519G>C (p.Glu507Gln) c.1513G>C (p.Glu505Gln) c.1054G>C (p.Glu352Gln) c.583G>C (p.Glu195Gln) n.2015G>C n.2182G>C c.1930G>C (p.Glu644Gln) c.622G>C (p.Glu208Gln) n.2232G>C n.2205G>C | |
8 | g.141168336G>T | CA372344183 | DENND3 | c.2086G>T (p.Glu696Ter) c.1846G>T (p.Glu616Ter) c.1690G>T (p.Glu564Ter) c.1859G>T n.1627G>T c.1885G>T (p.Glu629Ter) c.1729G>T (p.Glu577Ter) c.1852G>T (p.Glu618Ter) c.1342G>T (p.Glu448Ter) c.1519G>T (p.Glu507Ter) c.1513G>T (p.Glu505Ter) c.1054G>T (p.Glu352Ter) c.583G>T (p.Glu195Ter) n.2015G>T n.2182G>T c.1930G>T (p.Glu644Ter) c.622G>T (p.Glu208Ter) n.2232G>T n.2205G>T | |
8 | g.141168337A>C | CA372344186 | DENND3 | c.2087A>C (p.Glu696Ala) c.1847A>C (p.Glu616Ala) c.1691A>C (p.Glu564Ala) c.1860A>C n.1628A>C c.1886A>C (p.Glu629Ala) c.1730A>C (p.Glu577Ala) c.1853A>C (p.Glu618Ala) c.1343A>C (p.Glu448Ala) c.1520A>C (p.Glu507Ala) c.1514A>C (p.Glu505Ala) c.1055A>C (p.Glu352Ala) c.584A>C (p.Glu195Ala) n.2016A>C n.2183A>C c.1931A>C (p.Glu644Ala) c.623A>C (p.Glu208Ala) n.2233A>C n.2206A>C | |
8 | g.141168337A>G | CA372344185 | DENND3 | c.2087A>G (p.Glu696Gly) c.1847A>G (p.Glu616Gly) c.1691A>G (p.Glu564Gly) c.1860A>G n.1628A>G c.1886A>G (p.Glu629Gly) c.1730A>G (p.Glu577Gly) c.1853A>G (p.Glu618Gly) c.1343A>G (p.Glu448Gly) c.1520A>G (p.Glu507Gly) c.1514A>G (p.Glu505Gly) c.1055A>G (p.Glu352Gly) c.584A>G (p.Glu195Gly) n.2016A>G n.2183A>G c.1931A>G (p.Glu644Gly) c.623A>G (p.Glu208Gly) n.2233A>G n.2206A>G | |
8 | g.141168337A>T | CA372344184 | DENND3 | c.2087A>T (p.Glu696Val) c.1847A>T (p.Glu616Val) c.1691A>T (p.Glu564Val) c.1860A>T n.1628A>T c.1886A>T (p.Glu629Val) c.1730A>T (p.Glu577Val) c.1853A>T (p.Glu618Val) c.1343A>T (p.Glu448Val) c.1520A>T (p.Glu507Val) c.1514A>T (p.Glu505Val) c.1055A>T (p.Glu352Val) c.584A>T (p.Glu195Val) n.2016A>T n.2183A>T c.1931A>T (p.Glu644Val) c.623A>T (p.Glu208Val) n.2233A>T n.2206A>T | |
8 | g.141168338G>A | CA463496950 | DENND3 | c.2088G>A (p.Glu696=) c.1848G>A (p.Glu616=) c.1692G>A (p.Glu564=) c.1861G>A n.1629G>A c.1887G>A (p.Glu629=) c.1731G>A (p.Glu577=) c.1854G>A (p.Glu618=) c.1344G>A (p.Glu448=) c.1521G>A (p.Glu507=) c.1515G>A (p.Glu505=) c.1056G>A (p.Glu352=) c.585G>A (p.Glu195=) n.2017G>A n.2184G>A c.1932G>A (p.Glu644=) c.624G>A (p.Glu208=) n.2234G>A n.2207G>A | |
8 | g.141168338G>C | CA372344187 | DENND3 | c.2088G>C (p.Glu696Asp) c.1848G>C (p.Glu616Asp) c.1692G>C (p.Glu564Asp) c.1861G>C n.1629G>C c.1887G>C (p.Glu629Asp) c.1731G>C (p.Glu577Asp) c.1854G>C (p.Glu618Asp) c.1344G>C (p.Glu448Asp) c.1521G>C (p.Glu507Asp) c.1515G>C (p.Glu505Asp) c.1056G>C (p.Glu352Asp) c.585G>C (p.Glu195Asp) n.2017G>C n.2184G>C c.1932G>C (p.Glu644Asp) c.624G>C (p.Glu208Asp) n.2234G>C n.2207G>C | |
8 | g.141168338G>T | CA372344188 | DENND3 | c.2088G>T (p.Glu696Asp) c.1848G>T (p.Glu616Asp) c.1692G>T (p.Glu564Asp) c.1861G>T n.1629G>T c.1887G>T (p.Glu629Asp) c.1731G>T (p.Glu577Asp) c.1854G>T (p.Glu618Asp) c.1344G>T (p.Glu448Asp) c.1521G>T (p.Glu507Asp) c.1515G>T (p.Glu505Asp) c.1056G>T (p.Glu352Asp) c.585G>T (p.Glu195Asp) n.2017G>T n.2184G>T c.1932G>T (p.Glu644Asp) c.624G>T (p.Glu208Asp) n.2234G>T n.2207G>T | |
8 | g.141168339C>A | CA372344189 | DENND3 | c.2089C>A (p.Leu697Met) c.1849C>A (p.Leu617Met) c.1693C>A (p.Leu565Met) c.1862C>A n.1630C>A c.1888C>A (p.Leu630Met) c.1732C>A (p.Leu578Met) c.1855C>A (p.Leu619Met) c.1345C>A (p.Leu449Met) c.1522C>A (p.Leu508Met) c.1516C>A (p.Leu506Met) c.1057C>A (p.Leu353Met) c.586C>A (p.Leu196Met) n.2018C>A n.2185C>A c.1933C>A (p.Leu645Met) c.625C>A (p.Leu209Met) n.2235C>A n.2208C>A | |
8 | g.141168339C>G | CA372344190 | DENND3 | c.2089C>G (p.Leu697Val) c.1849C>G (p.Leu617Val) c.1693C>G (p.Leu565Val) c.1862C>G n.1630C>G c.1888C>G (p.Leu630Val) c.1732C>G (p.Leu578Val) c.1855C>G (p.Leu619Val) c.1345C>G (p.Leu449Val) c.1522C>G (p.Leu508Val) c.1516C>G (p.Leu506Val) c.1057C>G (p.Leu353Val) c.586C>G (p.Leu196Val) n.2018C>G n.2185C>G c.1933C>G (p.Leu645Val) c.625C>G (p.Leu209Val) n.2235C>G n.2208C>G | gnomAD v4 |
8 | g.141168339C>T | CA463496951 | DENND3 | c.2089C>T (p.Leu697=) c.1849C>T (p.Leu617=) c.1693C>T (p.Leu565=) c.1862C>T n.1630C>T c.1888C>T (p.Leu630=) c.1732C>T (p.Leu578=) c.1855C>T (p.Leu619=) c.1345C>T (p.Leu449=) c.1522C>T (p.Leu508=) c.1516C>T (p.Leu506=) c.1057C>T (p.Leu353=) c.586C>T (p.Leu196=) n.2018C>T n.2185C>T c.1933C>T (p.Leu645=) c.625C>T (p.Leu209=) n.2235C>T n.2208C>T | |
8 | g.141168340T>A | CA372344191 | DENND3 | c.2090T>A (p.Leu697Gln) c.1850T>A (p.Leu617Gln) c.1694T>A (p.Leu565Gln) c.1863T>A n.1631T>A c.1889T>A (p.Leu630Gln) c.1733T>A (p.Leu578Gln) c.1856T>A (p.Leu619Gln) c.1346T>A (p.Leu449Gln) c.1523T>A (p.Leu508Gln) c.1517T>A (p.Leu506Gln) c.1058T>A (p.Leu353Gln) c.587T>A (p.Leu196Gln) n.2019T>A n.2186T>A c.1934T>A (p.Leu645Gln) c.626T>A (p.Leu209Gln) n.2236T>A n.2209T>A | |
8 | g.141168340T>C | CA372344192 | DENND3 | c.2090T>C (p.Leu697Pro) c.1850T>C (p.Leu617Pro) c.1694T>C (p.Leu565Pro) c.1863T>C n.1631T>C c.1889T>C (p.Leu630Pro) c.1733T>C (p.Leu578Pro) c.1856T>C (p.Leu619Pro) c.1346T>C (p.Leu449Pro) c.1523T>C (p.Leu508Pro) c.1517T>C (p.Leu506Pro) c.1058T>C (p.Leu353Pro) c.587T>C (p.Leu196Pro) n.2019T>C n.2186T>C c.1934T>C (p.Leu645Pro) c.626T>C (p.Leu209Pro) n.2236T>C n.2209T>C | |
8 | g.141168340T>G | CA372344193 | DENND3 | c.2090T>G (p.Leu697Arg) c.1850T>G (p.Leu617Arg) c.1694T>G (p.Leu565Arg) c.1863T>G n.1631T>G c.1889T>G (p.Leu630Arg) c.1733T>G (p.Leu578Arg) c.1856T>G (p.Leu619Arg) c.1346T>G (p.Leu449Arg) c.1523T>G (p.Leu508Arg) c.1517T>G (p.Leu506Arg) c.1058T>G (p.Leu353Arg) c.587T>G (p.Leu196Arg) n.2019T>G n.2186T>G c.1934T>G (p.Leu645Arg) c.626T>G (p.Leu209Arg) n.2236T>G n.2209T>G | |
8 | g.141168341G>A | CA463496952 | DENND3 | c.2091G>A (p.Leu697=) c.1851G>A (p.Leu617=) c.1695G>A (p.Leu565=) c.1864G>A n.1632G>A c.1890G>A (p.Leu630=) c.1734G>A (p.Leu578=) c.1857G>A (p.Leu619=) c.1347G>A (p.Leu449=) c.1524G>A (p.Leu508=) c.1518G>A (p.Leu506=) c.1059G>A (p.Leu353=) c.588G>A (p.Leu196=) n.2020G>A n.2187G>A c.1935G>A (p.Leu645=) c.627G>A (p.Leu209=) n.2237G>A n.2210G>A | |
8 | g.141168341G>C | CA463496953 | DENND3 | c.2091G>C (p.Leu697=) c.1851G>C (p.Leu617=) c.1695G>C (p.Leu565=) c.1864G>C n.1632G>C c.1890G>C (p.Leu630=) c.1734G>C (p.Leu578=) c.1857G>C (p.Leu619=) c.1347G>C (p.Leu449=) c.1524G>C (p.Leu508=) c.1518G>C (p.Leu506=) c.1059G>C (p.Leu353=) c.588G>C (p.Leu196=) n.2020G>C n.2187G>C c.1935G>C (p.Leu645=) c.627G>C (p.Leu209=) n.2237G>C n.2210G>C | |
8 | g.141168341G>T | CA463496954 | DENND3 | c.2091G>T (p.Leu697=) c.1851G>T (p.Leu617=) c.1695G>T (p.Leu565=) c.1864G>T n.1632G>T c.1890G>T (p.Leu630=) c.1734G>T (p.Leu578=) c.1857G>T (p.Leu619=) c.1347G>T (p.Leu449=) c.1524G>T (p.Leu508=) c.1518G>T (p.Leu506=) c.1059G>T (p.Leu353=) c.588G>T (p.Leu196=) n.2020G>T n.2187G>T c.1935G>T (p.Leu645=) c.627G>T (p.Leu209=) n.2237G>T n.2210G>T | |
8 | g.141168342A>C | CA372344194 | DENND3 | c.2092A>C (p.Met698Leu) c.1852A>C (p.Met618Leu) c.1696A>C (p.Met566Leu) c.1865A>C n.1633A>C c.1891A>C (p.Met631Leu) c.1735A>C (p.Met579Leu) c.1858A>C (p.Met620Leu) c.1348A>C (p.Met450Leu) c.1525A>C (p.Met509Leu) c.1519A>C (p.Met507Leu) c.1060A>C (p.Met354Leu) c.589A>C (p.Met197Leu) n.2021A>C n.2188A>C c.1936A>C (p.Met646Leu) c.628A>C (p.Met210Leu) n.2238A>C n.2211A>C | |
8 | g.141168342A>G | CA372344195 | DENND3 | c.2092A>G (p.Met698Val) c.1852A>G (p.Met618Val) c.1696A>G (p.Met566Val) c.1865A>G n.1633A>G c.1891A>G (p.Met631Val) c.1735A>G (p.Met579Val) c.1858A>G (p.Met620Val) c.1348A>G (p.Met450Val) c.1525A>G (p.Met509Val) c.1519A>G (p.Met507Val) c.1060A>G (p.Met354Val) c.589A>G (p.Met197Val) n.2021A>G n.2188A>G c.1936A>G (p.Met646Val) c.628A>G (p.Met210Val) n.2238A>G n.2211A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168342A>T | CA372344196 | DENND3 | c.2092A>T (p.Met698Leu) c.1852A>T (p.Met618Leu) c.1696A>T (p.Met566Leu) c.1865A>T n.1633A>T c.1891A>T (p.Met631Leu) c.1735A>T (p.Met579Leu) c.1858A>T (p.Met620Leu) c.1348A>T (p.Met450Leu) c.1525A>T (p.Met509Leu) c.1519A>T (p.Met507Leu) c.1060A>T (p.Met354Leu) c.589A>T (p.Met197Leu) n.2021A>T n.2188A>T c.1936A>T (p.Met646Leu) c.628A>T (p.Met210Leu) n.2238A>T n.2211A>T | |
8 | g.141168343T>A | CA372344197 | DENND3 | c.2093T>A (p.Met698Lys) c.1853T>A (p.Met618Lys) c.1697T>A (p.Met566Lys) c.1866T>A n.1634T>A c.1892T>A (p.Met631Lys) c.1736T>A (p.Met579Lys) c.1859T>A (p.Met620Lys) c.1349T>A (p.Met450Lys) c.1526T>A (p.Met509Lys) c.1520T>A (p.Met507Lys) c.1061T>A (p.Met354Lys) c.590T>A (p.Met197Lys) n.2022T>A n.2189T>A c.1937T>A (p.Met646Lys) c.629T>A (p.Met210Lys) n.2239T>A n.2212T>A | |
8 | g.141168343T>C | CA372344198 | DENND3 | c.2093T>C (p.Met698Thr) c.1853T>C (p.Met618Thr) c.1697T>C (p.Met566Thr) c.1866T>C n.1634T>C c.1892T>C (p.Met631Thr) c.1736T>C (p.Met579Thr) c.1859T>C (p.Met620Thr) c.1349T>C (p.Met450Thr) c.1526T>C (p.Met509Thr) c.1520T>C (p.Met507Thr) c.1061T>C (p.Met354Thr) c.590T>C (p.Met197Thr) n.2022T>C n.2189T>C c.1937T>C (p.Met646Thr) c.629T>C (p.Met210Thr) n.2239T>C n.2212T>C | |
8 | g.141168343T>G | CA372344199 | DENND3 | c.2093T>G (p.Met698Arg) c.1853T>G (p.Met618Arg) c.1697T>G (p.Met566Arg) c.1866T>G n.1634T>G c.1892T>G (p.Met631Arg) c.1736T>G (p.Met579Arg) c.1859T>G (p.Met620Arg) c.1349T>G (p.Met450Arg) c.1526T>G (p.Met509Arg) c.1520T>G (p.Met507Arg) c.1061T>G (p.Met354Arg) c.590T>G (p.Met197Arg) n.2022T>G n.2189T>G c.1937T>G (p.Met646Arg) c.629T>G (p.Met210Arg) n.2239T>G n.2212T>G | |
8 | g.141168344G>A | CA372344201 | DENND3 | c.2094G>A (p.Met698Ile) c.1854G>A (p.Met618Ile) c.1698G>A (p.Met566Ile) c.1867G>A n.1635G>A c.1893G>A (p.Met631Ile) c.1737G>A (p.Met579Ile) c.1860G>A (p.Met620Ile) c.1350G>A (p.Met450Ile) c.1527G>A (p.Met509Ile) c.1521G>A (p.Met507Ile) c.1062G>A (p.Met354Ile) c.591G>A (p.Met197Ile) n.2023G>A n.2190G>A c.1938G>A (p.Met646Ile) c.630G>A (p.Met210Ile) n.2240G>A n.2213G>A | gnomAD v4 |
8 | g.141168344G>C | CA372344202 | DENND3 | c.2094G>C (p.Met698Ile) c.1854G>C (p.Met618Ile) c.1698G>C (p.Met566Ile) c.1867G>C n.1635G>C c.1893G>C (p.Met631Ile) c.1737G>C (p.Met579Ile) c.1860G>C (p.Met620Ile) c.1350G>C (p.Met450Ile) c.1527G>C (p.Met509Ile) c.1521G>C (p.Met507Ile) c.1062G>C (p.Met354Ile) c.591G>C (p.Met197Ile) n.2023G>C n.2190G>C c.1938G>C (p.Met646Ile) c.630G>C (p.Met210Ile) n.2240G>C n.2213G>C | |
8 | g.141168344G>T | CA372344200 | DENND3 | c.2094G>T (p.Met698Ile) c.1854G>T (p.Met618Ile) c.1698G>T (p.Met566Ile) c.1867G>T n.1635G>T c.1893G>T (p.Met631Ile) c.1737G>T (p.Met579Ile) c.1860G>T (p.Met620Ile) c.1350G>T (p.Met450Ile) c.1527G>T (p.Met509Ile) c.1521G>T (p.Met507Ile) c.1062G>T (p.Met354Ile) c.591G>T (p.Met197Ile) n.2023G>T n.2190G>T c.1938G>T (p.Met646Ile) c.630G>T (p.Met210Ile) n.2240G>T n.2213G>T | |
8 | g.141168347_141168359del | CA2782479400 | DENND3 | c.2097_2109del (p.Leu700SerfsTer15) c.1857_1869del (p.Leu620SerfsTer15) c.1701_1713del (p.Leu568SerfsTer15) c.1870_1882del n.1638_1650del c.1896_1908del (p.Leu633SerfsTer15) c.1740_1752del (p.Leu581SerfsTer15) c.1863_1875del (p.Leu622SerfsTer15) c.1353_1365del (p.Leu452SerfsTer15) c.1530_1542del (p.Leu511SerfsTer15) c.1524_1536del (p.Leu509SerfsTer15) c.1065_1077del (p.Leu356SerfsTer15) c.594_606del (p.Leu199SerfsTer15) n.2026_2038del n.2193_2205del c.1941_1953del (p.Leu648SerfsTer15) c.633_645del (p.Leu212SerfsTer15) n.2243_2255del n.2216_2228del | |
8 | g.141168345A>C | CA463496955 | DENND3 | c.2095A>C (p.Arg699=) c.1855A>C (p.Arg619=) c.1699A>C (p.Arg567=) c.1868A>C n.1636A>C c.1894A>C (p.Arg632=) c.1738A>C (p.Arg580=) c.1861A>C (p.Arg621=) c.1351A>C (p.Arg451=) c.1528A>C (p.Arg510=) c.1522A>C (p.Arg508=) c.1063A>C (p.Arg355=) c.592A>C (p.Arg198=) n.2024A>C n.2191A>C c.1939A>C (p.Arg647=) c.631A>C (p.Arg211=) n.2241A>C n.2214A>C | |
8 | g.141168345A>G | CA372344203 | DENND3 | c.2095A>G (p.Arg699Gly) c.1855A>G (p.Arg619Gly) c.1699A>G (p.Arg567Gly) c.1868A>G n.1636A>G c.1894A>G (p.Arg632Gly) c.1738A>G (p.Arg580Gly) c.1861A>G (p.Arg621Gly) c.1351A>G (p.Arg451Gly) c.1528A>G (p.Arg510Gly) c.1522A>G (p.Arg508Gly) c.1063A>G (p.Arg355Gly) c.592A>G (p.Arg198Gly) n.2024A>G n.2191A>G c.1939A>G (p.Arg647Gly) c.631A>G (p.Arg211Gly) n.2241A>G n.2214A>G | |
8 | g.141168345A>T | CA372344204 | DENND3 | c.2095A>T (p.Arg699Trp) c.1855A>T (p.Arg619Trp) c.1699A>T (p.Arg567Trp) c.1868A>T n.1636A>T c.1894A>T (p.Arg632Trp) c.1738A>T (p.Arg580Trp) c.1861A>T (p.Arg621Trp) c.1351A>T (p.Arg451Trp) c.1528A>T (p.Arg510Trp) c.1522A>T (p.Arg508Trp) c.1063A>T (p.Arg355Trp) c.592A>T (p.Arg198Trp) n.2024A>T n.2191A>T c.1939A>T (p.Arg647Trp) c.631A>T (p.Arg211Trp) n.2241A>T n.2214A>T | |
8 | g.141168346G>A | CA4896804 | DENND3 | c.2096G>A (p.Arg699Lys) c.1856G>A (p.Arg619Lys) c.1700G>A (p.Arg567Lys) c.1869G>A n.1637G>A c.1895G>A (p.Arg632Lys) c.1739G>A (p.Arg580Lys) c.1862G>A (p.Arg621Lys) c.1352G>A (p.Arg451Lys) c.1529G>A (p.Arg510Lys) c.1523G>A (p.Arg508Lys) c.1064G>A (p.Arg355Lys) c.593G>A (p.Arg198Lys) n.2025G>A n.2192G>A c.1940G>A (p.Arg647Lys) c.632G>A (p.Arg211Lys) n.2242G>A n.2215G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168346G>C | CA372344205 | DENND3 | c.2096G>C (p.Arg699Thr) c.1856G>C (p.Arg619Thr) c.1700G>C (p.Arg567Thr) c.1869G>C n.1637G>C c.1895G>C (p.Arg632Thr) c.1739G>C (p.Arg580Thr) c.1862G>C (p.Arg621Thr) c.1352G>C (p.Arg451Thr) c.1529G>C (p.Arg510Thr) c.1523G>C (p.Arg508Thr) c.1064G>C (p.Arg355Thr) c.593G>C (p.Arg198Thr) n.2025G>C n.2192G>C c.1940G>C (p.Arg647Thr) c.632G>C (p.Arg211Thr) n.2242G>C n.2215G>C | |
8 | g.141168346G>T | CA372344206 | DENND3 | c.2096G>T (p.Arg699Met) c.1856G>T (p.Arg619Met) c.1700G>T (p.Arg567Met) c.1869G>T n.1637G>T c.1895G>T (p.Arg632Met) c.1739G>T (p.Arg580Met) c.1862G>T (p.Arg621Met) c.1352G>T (p.Arg451Met) c.1529G>T (p.Arg510Met) c.1523G>T (p.Arg508Met) c.1064G>T (p.Arg355Met) c.593G>T (p.Arg198Met) n.2025G>T n.2192G>T c.1940G>T (p.Arg647Met) c.632G>T (p.Arg211Met) n.2242G>T n.2215G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168347G>A | CA463496956 | DENND3 | c.2097G>A (p.Arg699=) c.1857G>A (p.Arg619=) c.1701G>A (p.Arg567=) c.1870G>A n.1638G>A c.1896G>A (p.Arg632=) c.1740G>A (p.Arg580=) c.1863G>A (p.Arg621=) c.1353G>A (p.Arg451=) c.1530G>A (p.Arg510=) c.1524G>A (p.Arg508=) c.1065G>A (p.Arg355=) c.594G>A (p.Arg198=) n.2026G>A n.2193G>A c.1941G>A (p.Arg647=) c.633G>A (p.Arg211=) n.2243G>A n.2216G>A | |
8 | g.141168347G>C | CA372344207 | DENND3 | c.2097G>C (p.Arg699Ser) c.1857G>C (p.Arg619Ser) c.1701G>C (p.Arg567Ser) c.1870G>C n.1638G>C c.1896G>C (p.Arg632Ser) c.1740G>C (p.Arg580Ser) c.1863G>C (p.Arg621Ser) c.1353G>C (p.Arg451Ser) c.1530G>C (p.Arg510Ser) c.1524G>C (p.Arg508Ser) c.1065G>C (p.Arg355Ser) c.594G>C (p.Arg198Ser) n.2026G>C n.2193G>C c.1941G>C (p.Arg647Ser) c.633G>C (p.Arg211Ser) n.2243G>C n.2216G>C | gnomAD v4 |
8 | g.141168347G>T | CA372344208 | DENND3 | c.2097G>T (p.Arg699Ser) c.1857G>T (p.Arg619Ser) c.1701G>T (p.Arg567Ser) c.1870G>T n.1638G>T c.1896G>T (p.Arg632Ser) c.1740G>T (p.Arg580Ser) c.1863G>T (p.Arg621Ser) c.1353G>T (p.Arg451Ser) c.1530G>T (p.Arg510Ser) c.1524G>T (p.Arg508Ser) c.1065G>T (p.Arg355Ser) c.594G>T (p.Arg198Ser) n.2026G>T n.2193G>T c.1941G>T (p.Arg647Ser) c.633G>T (p.Arg211Ser) n.2243G>T n.2216G>T | |
8 | g.141168348C>A | CA4896805 | DENND3 | c.2098C>A (p.Leu700Ile) c.1858C>A (p.Leu620Ile) c.1702C>A (p.Leu568Ile) c.1871C>A n.1639C>A c.1897C>A (p.Leu633Ile) c.1741C>A (p.Leu581Ile) c.1864C>A (p.Leu622Ile) c.1354C>A (p.Leu452Ile) c.1531C>A (p.Leu511Ile) c.1525C>A (p.Leu509Ile) c.1066C>A (p.Leu356Ile) c.595C>A (p.Leu199Ile) n.2027C>A n.2194C>A c.1942C>A (p.Leu648Ile) c.634C>A (p.Leu212Ile) n.2244C>A n.2217C>A | dbSNP ExAC gnomAD v2 |
8 | g.141168348C>G | CA372344209 | DENND3 | c.2098C>G (p.Leu700Val) c.1858C>G (p.Leu620Val) c.1702C>G (p.Leu568Val) c.1871C>G n.1639C>G c.1897C>G (p.Leu633Val) c.1741C>G (p.Leu581Val) c.1864C>G (p.Leu622Val) c.1354C>G (p.Leu452Val) c.1531C>G (p.Leu511Val) c.1525C>G (p.Leu509Val) c.1066C>G (p.Leu356Val) c.595C>G (p.Leu199Val) n.2027C>G n.2194C>G c.1942C>G (p.Leu648Val) c.634C>G (p.Leu212Val) n.2244C>G n.2217C>G | dbSNP |
8 | g.141168348C>T | CA187325774 | DENND3 | c.2098C>T (p.Leu700Phe) c.1858C>T (p.Leu620Phe) c.1702C>T (p.Leu568Phe) c.1871C>T n.1639C>T c.1897C>T (p.Leu633Phe) c.1741C>T (p.Leu581Phe) c.1864C>T (p.Leu622Phe) c.1354C>T (p.Leu452Phe) c.1531C>T (p.Leu511Phe) c.1525C>T (p.Leu509Phe) c.1066C>T (p.Leu356Phe) c.595C>T (p.Leu199Phe) n.2027C>T n.2194C>T c.1942C>T (p.Leu648Phe) c.634C>T (p.Leu212Phe) n.2244C>T n.2217C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168349T>A | CA372344210 | DENND3 | c.2099T>A (p.Leu700His) c.1859T>A (p.Leu620His) c.1703T>A (p.Leu568His) c.1872T>A n.1640T>A c.1898T>A (p.Leu633His) c.1742T>A (p.Leu581His) c.1865T>A (p.Leu622His) c.1355T>A (p.Leu452His) c.1532T>A (p.Leu511His) c.1526T>A (p.Leu509His) c.1067T>A (p.Leu356His) c.596T>A (p.Leu199His) n.2028T>A n.2195T>A c.1943T>A (p.Leu648His) c.635T>A (p.Leu212His) n.2245T>A n.2218T>A | |
8 | g.141168349T>C | CA372344211 | DENND3 | c.2099T>C (p.Leu700Pro) c.1859T>C (p.Leu620Pro) c.1703T>C (p.Leu568Pro) c.1872T>C n.1640T>C c.1898T>C (p.Leu633Pro) c.1742T>C (p.Leu581Pro) c.1865T>C (p.Leu622Pro) c.1355T>C (p.Leu452Pro) c.1532T>C (p.Leu511Pro) c.1526T>C (p.Leu509Pro) c.1067T>C (p.Leu356Pro) c.596T>C (p.Leu199Pro) n.2028T>C n.2195T>C c.1943T>C (p.Leu648Pro) c.635T>C (p.Leu212Pro) n.2245T>C n.2218T>C | |
8 | g.141168349T>G | CA372344212 | DENND3 | c.2099T>G (p.Leu700Arg) c.1859T>G (p.Leu620Arg) c.1703T>G (p.Leu568Arg) c.1872T>G n.1640T>G c.1898T>G (p.Leu633Arg) c.1742T>G (p.Leu581Arg) c.1865T>G (p.Leu622Arg) c.1355T>G (p.Leu452Arg) c.1532T>G (p.Leu511Arg) c.1526T>G (p.Leu509Arg) c.1067T>G (p.Leu356Arg) c.596T>G (p.Leu199Arg) n.2028T>G n.2195T>G c.1943T>G (p.Leu648Arg) c.635T>G (p.Leu212Arg) n.2245T>G n.2218T>G | |
8 | g.141168350C>A | CA463496957 | DENND3 | c.2100C>A (p.Leu700=) c.1860C>A (p.Leu620=) c.1704C>A (p.Leu568=) c.1873C>A n.1641C>A c.1899C>A (p.Leu633=) c.1743C>A (p.Leu581=) c.1866C>A (p.Leu622=) c.1356C>A (p.Leu452=) c.1533C>A (p.Leu511=) c.1527C>A (p.Leu509=) c.1068C>A (p.Leu356=) c.597C>A (p.Leu199=) n.2029C>A n.2196C>A c.1944C>A (p.Leu648=) c.636C>A (p.Leu212=) n.2246C>A n.2219C>A | |
8 | g.141168350C>G | CA463496958 | DENND3 | c.2100C>G (p.Leu700=) c.1860C>G (p.Leu620=) c.1704C>G (p.Leu568=) c.1873C>G n.1641C>G c.1899C>G (p.Leu633=) c.1743C>G (p.Leu581=) c.1866C>G (p.Leu622=) c.1356C>G (p.Leu452=) c.1533C>G (p.Leu511=) c.1527C>G (p.Leu509=) c.1068C>G (p.Leu356=) c.597C>G (p.Leu199=) n.2029C>G n.2196C>G c.1944C>G (p.Leu648=) c.636C>G (p.Leu212=) n.2246C>G n.2219C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168350C>T | CA463496959 | DENND3 | c.2100C>T (p.Leu700=) c.1860C>T (p.Leu620=) c.1704C>T (p.Leu568=) c.1873C>T n.1641C>T c.1899C>T (p.Leu633=) c.1743C>T (p.Leu581=) c.1866C>T (p.Leu622=) c.1356C>T (p.Leu452=) c.1533C>T (p.Leu511=) c.1527C>T (p.Leu509=) c.1068C>T (p.Leu356=) c.597C>T (p.Leu199=) n.2029C>T n.2196C>T c.1944C>T (p.Leu648=) c.636C>T (p.Leu212=) n.2246C>T n.2219C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168351A>C | CA372344215 | DENND3 | c.2101A>C (p.Ile701Leu) c.1861A>C (p.Ile621Leu) c.1705A>C (p.Ile569Leu) c.1874A>C n.1642A>C c.1900A>C (p.Ile634Leu) c.1744A>C (p.Ile582Leu) c.1867A>C (p.Ile623Leu) c.1357A>C (p.Ile453Leu) c.1534A>C (p.Ile512Leu) c.1528A>C (p.Ile510Leu) c.1069A>C (p.Ile357Leu) c.598A>C (p.Ile200Leu) n.2030A>C n.2197A>C c.1945A>C (p.Ile649Leu) c.637A>C (p.Ile213Leu) n.2247A>C n.2220A>C | |
8 | g.141168351A>G | CA372344214 | DENND3 | c.2101A>G (p.Ile701Val) c.1861A>G (p.Ile621Val) c.1705A>G (p.Ile569Val) c.1874A>G n.1642A>G c.1900A>G (p.Ile634Val) c.1744A>G (p.Ile582Val) c.1867A>G (p.Ile623Val) c.1357A>G (p.Ile453Val) c.1534A>G (p.Ile512Val) c.1528A>G (p.Ile510Val) c.1069A>G (p.Ile357Val) c.598A>G (p.Ile200Val) n.2030A>G n.2197A>G c.1945A>G (p.Ile649Val) c.637A>G (p.Ile213Val) n.2247A>G n.2220A>G | |
8 | g.141168351A>T | CA372344213 | DENND3 | c.2101A>T (p.Ile701Phe) c.1861A>T (p.Ile621Phe) c.1705A>T (p.Ile569Phe) c.1874A>T n.1642A>T c.1900A>T (p.Ile634Phe) c.1744A>T (p.Ile582Phe) c.1867A>T (p.Ile623Phe) c.1357A>T (p.Ile453Phe) c.1534A>T (p.Ile512Phe) c.1528A>T (p.Ile510Phe) c.1069A>T (p.Ile357Phe) c.598A>T (p.Ile200Phe) n.2030A>T n.2197A>T c.1945A>T (p.Ile649Phe) c.637A>T (p.Ile213Phe) n.2247A>T n.2220A>T | gnomAD v4 |
8 | g.141168352T>A | CA372344216 | DENND3 | c.2102T>A (p.Ile701Asn) c.1862T>A (p.Ile621Asn) c.1706T>A (p.Ile569Asn) c.1875T>A n.1643T>A c.1901T>A (p.Ile634Asn) c.1745T>A (p.Ile582Asn) c.1868T>A (p.Ile623Asn) c.1358T>A (p.Ile453Asn) c.1535T>A (p.Ile512Asn) c.1529T>A (p.Ile510Asn) c.1070T>A (p.Ile357Asn) c.599T>A (p.Ile200Asn) n.2031T>A n.2198T>A c.1946T>A (p.Ile649Asn) c.638T>A (p.Ile213Asn) n.2248T>A n.2221T>A | |
8 | g.141168352T>C | CA372344217 | DENND3 | c.2102T>C (p.Ile701Thr) c.1862T>C (p.Ile621Thr) c.1706T>C (p.Ile569Thr) c.1875T>C n.1643T>C c.1901T>C (p.Ile634Thr) c.1745T>C (p.Ile582Thr) c.1868T>C (p.Ile623Thr) c.1358T>C (p.Ile453Thr) c.1535T>C (p.Ile512Thr) c.1529T>C (p.Ile510Thr) c.1070T>C (p.Ile357Thr) c.599T>C (p.Ile200Thr) n.2031T>C n.2198T>C c.1946T>C (p.Ile649Thr) c.638T>C (p.Ile213Thr) n.2248T>C n.2221T>C | |
8 | g.141168352T>G | CA372344218 | DENND3 | c.2102T>G (p.Ile701Ser) c.1862T>G (p.Ile621Ser) c.1706T>G (p.Ile569Ser) c.1875T>G n.1643T>G c.1901T>G (p.Ile634Ser) c.1745T>G (p.Ile582Ser) c.1868T>G (p.Ile623Ser) c.1358T>G (p.Ile453Ser) c.1535T>G (p.Ile512Ser) c.1529T>G (p.Ile510Ser) c.1070T>G (p.Ile357Ser) c.599T>G (p.Ile200Ser) n.2031T>G n.2198T>G c.1946T>G (p.Ile649Ser) c.638T>G (p.Ile213Ser) n.2248T>G n.2221T>G | |
8 | g.141168353C>A | CA463496960 | DENND3 | c.2103C>A (p.Ile701=) c.1863C>A (p.Ile621=) c.1707C>A (p.Ile569=) c.1876C>A n.1644C>A c.1902C>A (p.Ile634=) c.1746C>A (p.Ile582=) c.1869C>A (p.Ile623=) c.1359C>A (p.Ile453=) c.1536C>A (p.Ile512=) c.1530C>A (p.Ile510=) c.1071C>A (p.Ile357=) c.600C>A (p.Ile200=) n.2032C>A n.2199C>A c.1947C>A (p.Ile649=) c.639C>A (p.Ile213=) n.2249C>A n.2222C>A | |
8 | g.141168353C>G | CA372344219 | DENND3 | c.2103C>G (p.Ile701Met) c.1863C>G (p.Ile621Met) c.1707C>G (p.Ile569Met) c.1876C>G n.1644C>G c.1902C>G (p.Ile634Met) c.1746C>G (p.Ile582Met) c.1869C>G (p.Ile623Met) c.1359C>G (p.Ile453Met) c.1536C>G (p.Ile512Met) c.1530C>G (p.Ile510Met) c.1071C>G (p.Ile357Met) c.600C>G (p.Ile200Met) n.2032C>G n.2199C>G c.1947C>G (p.Ile649Met) c.639C>G (p.Ile213Met) n.2249C>G n.2222C>G | |
8 | g.141168353C>T | CA463496961 | DENND3 | c.2103C>T (p.Ile701=) c.1863C>T (p.Ile621=) c.1707C>T (p.Ile569=) c.1876C>T n.1644C>T c.1902C>T (p.Ile634=) c.1746C>T (p.Ile582=) c.1869C>T (p.Ile623=) c.1359C>T (p.Ile453=) c.1536C>T (p.Ile512=) c.1530C>T (p.Ile510=) c.1071C>T (p.Ile357=) c.600C>T (p.Ile200=) n.2032C>T n.2199C>T c.1947C>T (p.Ile649=) c.639C>T (p.Ile213=) n.2249C>T n.2222C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168354A>C | CA372344220 | DENND3 | c.2104A>C (p.Ser702Arg) c.1864A>C (p.Ser622Arg) c.1708A>C (p.Ser570Arg) c.1877A>C n.1645A>C c.1903A>C (p.Ser635Arg) c.1747A>C (p.Ser583Arg) c.1870A>C (p.Ser624Arg) c.1360A>C (p.Ser454Arg) c.1537A>C (p.Ser513Arg) c.1531A>C (p.Ser511Arg) c.1072A>C (p.Ser358Arg) c.601A>C (p.Ser201Arg) n.2033A>C n.2200A>C c.1948A>C (p.Ser650Arg) c.640A>C (p.Ser214Arg) n.2250A>C n.2223A>C | |
8 | g.141168354A>G | CA372344221 | DENND3 | c.2104A>G (p.Ser702Gly) c.1864A>G (p.Ser622Gly) c.1708A>G (p.Ser570Gly) c.1877A>G n.1645A>G c.1903A>G (p.Ser635Gly) c.1747A>G (p.Ser583Gly) c.1870A>G (p.Ser624Gly) c.1360A>G (p.Ser454Gly) c.1537A>G (p.Ser513Gly) c.1531A>G (p.Ser511Gly) c.1072A>G (p.Ser358Gly) c.601A>G (p.Ser201Gly) n.2033A>G n.2200A>G c.1948A>G (p.Ser650Gly) c.640A>G (p.Ser214Gly) n.2250A>G n.2223A>G | |
8 | g.141168354A>T | CA372344222 | DENND3 | c.2104A>T (p.Ser702Cys) c.1864A>T (p.Ser622Cys) c.1708A>T (p.Ser570Cys) c.1877A>T n.1645A>T c.1903A>T (p.Ser635Cys) c.1747A>T (p.Ser583Cys) c.1870A>T (p.Ser624Cys) c.1360A>T (p.Ser454Cys) c.1537A>T (p.Ser513Cys) c.1531A>T (p.Ser511Cys) c.1072A>T (p.Ser358Cys) c.601A>T (p.Ser201Cys) n.2033A>T n.2200A>T c.1948A>T (p.Ser650Cys) c.640A>T (p.Ser214Cys) n.2250A>T n.2223A>T | |
8 | g.141168355G>A | CA372344223 | DENND3 | c.2105G>A (p.Ser702Asn) c.1865G>A (p.Ser622Asn) c.1709G>A (p.Ser570Asn) c.1878G>A n.1646G>A c.1904G>A (p.Ser635Asn) c.1748G>A (p.Ser583Asn) c.1871G>A (p.Ser624Asn) c.1361G>A (p.Ser454Asn) c.1538G>A (p.Ser513Asn) c.1532G>A (p.Ser511Asn) c.1073G>A (p.Ser358Asn) c.602G>A (p.Ser201Asn) n.2034G>A n.2201G>A c.1949G>A (p.Ser650Asn) c.641G>A (p.Ser214Asn) n.2251G>A n.2224G>A | |
8 | g.141168355G>C | CA372344224 | DENND3 | c.2105G>C (p.Ser702Thr) c.1865G>C (p.Ser622Thr) c.1709G>C (p.Ser570Thr) c.1878G>C n.1646G>C c.1904G>C (p.Ser635Thr) c.1748G>C (p.Ser583Thr) c.1871G>C (p.Ser624Thr) c.1361G>C (p.Ser454Thr) c.1538G>C (p.Ser513Thr) c.1532G>C (p.Ser511Thr) c.1073G>C (p.Ser358Thr) c.602G>C (p.Ser201Thr) n.2034G>C n.2201G>C c.1949G>C (p.Ser650Thr) c.641G>C (p.Ser214Thr) n.2251G>C n.2224G>C | |
8 | g.141168355G>T | CA372344225 | DENND3 | c.2105G>T (p.Ser702Ile) c.1865G>T (p.Ser622Ile) c.1709G>T (p.Ser570Ile) c.1878G>T n.1646G>T c.1904G>T (p.Ser635Ile) c.1748G>T (p.Ser583Ile) c.1871G>T (p.Ser624Ile) c.1361G>T (p.Ser454Ile) c.1538G>T (p.Ser513Ile) c.1532G>T (p.Ser511Ile) c.1073G>T (p.Ser358Ile) c.602G>T (p.Ser201Ile) n.2034G>T n.2201G>T c.1949G>T (p.Ser650Ile) c.641G>T (p.Ser214Ile) n.2251G>T n.2224G>T | |
8 | g.141168356C>A | CA372344226 | DENND3 | c.2106C>A (p.Ser702Arg) c.1866C>A (p.Ser622Arg) c.1710C>A (p.Ser570Arg) c.1879C>A n.1647C>A c.1905C>A (p.Ser635Arg) c.1749C>A (p.Ser583Arg) c.1872C>A (p.Ser624Arg) c.1362C>A (p.Ser454Arg) c.1539C>A (p.Ser513Arg) c.1533C>A (p.Ser511Arg) c.1074C>A (p.Ser358Arg) c.603C>A (p.Ser201Arg) n.2035C>A n.2202C>A c.1950C>A (p.Ser650Arg) c.642C>A (p.Ser214Arg) n.2252C>A n.2225C>A | |
8 | g.141168356C>G | CA372344227 | DENND3 | c.2106C>G (p.Ser702Arg) c.1866C>G (p.Ser622Arg) c.1710C>G (p.Ser570Arg) c.1879C>G n.1647C>G c.1905C>G (p.Ser635Arg) c.1749C>G (p.Ser583Arg) c.1872C>G (p.Ser624Arg) c.1362C>G (p.Ser454Arg) c.1539C>G (p.Ser513Arg) c.1533C>G (p.Ser511Arg) c.1074C>G (p.Ser358Arg) c.603C>G (p.Ser201Arg) n.2035C>G n.2202C>G c.1950C>G (p.Ser650Arg) c.642C>G (p.Ser214Arg) n.2252C>G n.2225C>G | |
8 | g.141168356C>T | CA4896806 | DENND3 | c.2106C>T (p.Ser702=) c.1866C>T (p.Ser622=) c.1710C>T (p.Ser570=) c.1879C>T n.1647C>T c.1905C>T (p.Ser635=) c.1749C>T (p.Ser583=) c.1872C>T (p.Ser624=) c.1362C>T (p.Ser454=) c.1539C>T (p.Ser513=) c.1533C>T (p.Ser511=) c.1074C>T (p.Ser358=) c.603C>T (p.Ser201=) n.2035C>T n.2202C>T c.1950C>T (p.Ser650=) c.642C>T (p.Ser214=) n.2252C>T n.2225C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168357G>A | CA372344229 | DENND3 | c.2107G>A (p.Glu703Lys) c.1867G>A (p.Glu623Lys) c.1711G>A (p.Glu571Lys) c.1880G>A n.1648G>A c.1906G>A (p.Glu636Lys) c.1750G>A (p.Glu584Lys) c.1873G>A (p.Glu625Lys) c.1363G>A (p.Glu455Lys) c.1540G>A (p.Glu514Lys) c.1534G>A (p.Glu512Lys) c.1075G>A (p.Glu359Lys) c.604G>A (p.Glu202Lys) n.2036G>A n.2203G>A c.1951G>A (p.Glu651Lys) c.643G>A (p.Glu215Lys) n.2253G>A n.2226G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168357G>C | CA372344230 | DENND3 | c.2107G>C (p.Glu703Gln) c.1867G>C (p.Glu623Gln) c.1711G>C (p.Glu571Gln) c.1880G>C n.1648G>C c.1906G>C (p.Glu636Gln) c.1750G>C (p.Glu584Gln) c.1873G>C (p.Glu625Gln) c.1363G>C (p.Glu455Gln) c.1540G>C (p.Glu514Gln) c.1534G>C (p.Glu512Gln) c.1075G>C (p.Glu359Gln) c.604G>C (p.Glu202Gln) n.2036G>C n.2203G>C c.1951G>C (p.Glu651Gln) c.643G>C (p.Glu215Gln) n.2253G>C n.2226G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168357G>T | CA372344228 | DENND3 | c.2107G>T (p.Glu703Ter) c.1867G>T (p.Glu623Ter) c.1711G>T (p.Glu571Ter) c.1880G>T n.1648G>T c.1906G>T (p.Glu636Ter) c.1750G>T (p.Glu584Ter) c.1873G>T (p.Glu625Ter) c.1363G>T (p.Glu455Ter) c.1540G>T (p.Glu514Ter) c.1534G>T (p.Glu512Ter) c.1075G>T (p.Glu359Ter) c.604G>T (p.Glu202Ter) n.2036G>T n.2203G>T c.1951G>T (p.Glu651Ter) c.643G>T (p.Glu215Ter) n.2253G>T n.2226G>T | |
8 | g.141168358A>C | CA372344231 | DENND3 | c.2108A>C (p.Glu703Ala) c.1868A>C (p.Glu623Ala) c.1712A>C (p.Glu571Ala) c.1881A>C n.1649A>C c.1907A>C (p.Glu636Ala) c.1751A>C (p.Glu584Ala) c.1874A>C (p.Glu625Ala) c.1364A>C (p.Glu455Ala) c.1541A>C (p.Glu514Ala) c.1535A>C (p.Glu512Ala) c.1076A>C (p.Glu359Ala) c.605A>C (p.Glu202Ala) n.2037A>C n.2204A>C c.1952A>C (p.Glu651Ala) c.644A>C (p.Glu215Ala) n.2254A>C n.2227A>C | |
8 | g.141168358A>G | CA372344232 | DENND3 | c.2108A>G (p.Glu703Gly) c.1868A>G (p.Glu623Gly) c.1712A>G (p.Glu571Gly) c.1881A>G n.1649A>G c.1907A>G (p.Glu636Gly) c.1751A>G (p.Glu584Gly) c.1874A>G (p.Glu625Gly) c.1364A>G (p.Glu455Gly) c.1541A>G (p.Glu514Gly) c.1535A>G (p.Glu512Gly) c.1076A>G (p.Glu359Gly) c.605A>G (p.Glu202Gly) n.2037A>G n.2204A>G c.1952A>G (p.Glu651Gly) c.644A>G (p.Glu215Gly) n.2254A>G n.2227A>G | |
8 | g.141168358A>T | CA372344233 | DENND3 | c.2108A>T (p.Glu703Val) c.1868A>T (p.Glu623Val) c.1712A>T (p.Glu571Val) c.1881A>T n.1649A>T c.1907A>T (p.Glu636Val) c.1751A>T (p.Glu584Val) c.1874A>T (p.Glu625Val) c.1364A>T (p.Glu455Val) c.1541A>T (p.Glu514Val) c.1535A>T (p.Glu512Val) c.1076A>T (p.Glu359Val) c.605A>T (p.Glu202Val) n.2037A>T n.2204A>T c.1952A>T (p.Glu651Val) c.644A>T (p.Glu215Val) n.2254A>T n.2227A>T | |
8 | g.141168359G>A | CA463496962 | DENND3 | c.2109G>A (p.Glu703=) c.1869G>A (p.Glu623=) c.1713G>A (p.Glu571=) c.1882G>A n.1650G>A c.1908G>A (p.Glu636=) c.1752G>A (p.Glu584=) c.1875G>A (p.Glu625=) c.1365G>A (p.Glu455=) c.1542G>A (p.Glu514=) c.1536G>A (p.Glu512=) c.1077G>A (p.Glu359=) c.606G>A (p.Glu202=) n.2038G>A n.2205G>A c.1953G>A (p.Glu651=) c.645G>A (p.Glu215=) n.2255G>A n.2228G>A | |
8 | g.141168359G>C | CA372344234 | DENND3 | c.2109G>C (p.Glu703Asp) c.1869G>C (p.Glu623Asp) c.1713G>C (p.Glu571Asp) c.1882G>C n.1650G>C c.1908G>C (p.Glu636Asp) c.1752G>C (p.Glu584Asp) c.1875G>C (p.Glu625Asp) c.1365G>C (p.Glu455Asp) c.1542G>C (p.Glu514Asp) c.1536G>C (p.Glu512Asp) c.1077G>C (p.Glu359Asp) c.606G>C (p.Glu202Asp) n.2038G>C n.2205G>C c.1953G>C (p.Glu651Asp) c.645G>C (p.Glu215Asp) n.2255G>C n.2228G>C | |
8 | g.141168359G>T | CA372344235 | DENND3 | c.2109G>T (p.Glu703Asp) c.1869G>T (p.Glu623Asp) c.1713G>T (p.Glu571Asp) c.1882G>T n.1650G>T c.1908G>T (p.Glu636Asp) c.1752G>T (p.Glu584Asp) c.1875G>T (p.Glu625Asp) c.1365G>T (p.Glu455Asp) c.1542G>T (p.Glu514Asp) c.1536G>T (p.Glu512Asp) c.1077G>T (p.Glu359Asp) c.606G>T (p.Glu202Asp) n.2038G>T n.2205G>T c.1953G>T (p.Glu651Asp) c.645G>T (p.Glu215Asp) n.2255G>T n.2228G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168360A>C | CA372344236 | DENND3 | c.2110A>C (p.Ile704Leu) c.1870A>C (p.Ile624Leu) c.1714A>C (p.Ile572Leu) c.1883A>C n.1651A>C c.1909A>C (p.Ile637Leu) c.1753A>C (p.Ile585Leu) c.1876A>C (p.Ile626Leu) c.1366A>C (p.Ile456Leu) c.1543A>C (p.Ile515Leu) c.1537A>C (p.Ile513Leu) c.1078A>C (p.Ile360Leu) c.607A>C (p.Ile203Leu) n.2039A>C n.2206A>C c.1954A>C (p.Ile652Leu) c.646A>C (p.Ile216Leu) n.2256A>C n.2229A>C | |
8 | g.141168360A>G | CA372344237 | DENND3 | c.2110A>G (p.Ile704Val) c.1870A>G (p.Ile624Val) c.1714A>G (p.Ile572Val) c.1883A>G n.1651A>G c.1909A>G (p.Ile637Val) c.1753A>G (p.Ile585Val) c.1876A>G (p.Ile626Val) c.1366A>G (p.Ile456Val) c.1543A>G (p.Ile515Val) c.1537A>G (p.Ile513Val) c.1078A>G (p.Ile360Val) c.607A>G (p.Ile203Val) n.2039A>G n.2206A>G c.1954A>G (p.Ile652Val) c.646A>G (p.Ile216Val) n.2256A>G n.2229A>G | |
8 | g.141168360A>T | CA372344238 | DENND3 | c.2110A>T (p.Ile704Phe) c.1870A>T (p.Ile624Phe) c.1714A>T (p.Ile572Phe) c.1883A>T n.1651A>T c.1909A>T (p.Ile637Phe) c.1753A>T (p.Ile585Phe) c.1876A>T (p.Ile626Phe) c.1366A>T (p.Ile456Phe) c.1543A>T (p.Ile515Phe) c.1537A>T (p.Ile513Phe) c.1078A>T (p.Ile360Phe) c.607A>T (p.Ile203Phe) n.2039A>T n.2206A>T c.1954A>T (p.Ile652Phe) c.646A>T (p.Ile216Phe) n.2256A>T n.2229A>T | |
8 | g.141168361T>A | CA372344239 | DENND3 | c.2111T>A (p.Ile704Asn) c.1871T>A (p.Ile624Asn) c.1715T>A (p.Ile572Asn) c.1884T>A n.1652T>A c.1910T>A (p.Ile637Asn) c.1754T>A (p.Ile585Asn) c.1877T>A (p.Ile626Asn) c.1367T>A (p.Ile456Asn) c.1544T>A (p.Ile515Asn) c.1538T>A (p.Ile513Asn) c.1079T>A (p.Ile360Asn) c.608T>A (p.Ile203Asn) n.2040T>A n.2207T>A c.1955T>A (p.Ile652Asn) c.647T>A (p.Ile216Asn) n.2257T>A n.2230T>A | |
8 | g.141168361T>C | CA372344240 | DENND3 | c.2111T>C (p.Ile704Thr) c.1871T>C (p.Ile624Thr) c.1715T>C (p.Ile572Thr) c.1884T>C n.1652T>C c.1910T>C (p.Ile637Thr) c.1754T>C (p.Ile585Thr) c.1877T>C (p.Ile626Thr) c.1367T>C (p.Ile456Thr) c.1544T>C (p.Ile515Thr) c.1538T>C (p.Ile513Thr) c.1079T>C (p.Ile360Thr) c.608T>C (p.Ile203Thr) n.2040T>C n.2207T>C c.1955T>C (p.Ile652Thr) c.647T>C (p.Ile216Thr) n.2257T>C n.2230T>C | |
8 | g.141168361T>G | CA372344241 | DENND3 | c.2111T>G (p.Ile704Ser) c.1871T>G (p.Ile624Ser) c.1715T>G (p.Ile572Ser) c.1884T>G n.1652T>G c.1910T>G (p.Ile637Ser) c.1754T>G (p.Ile585Ser) c.1877T>G (p.Ile626Ser) c.1367T>G (p.Ile456Ser) c.1544T>G (p.Ile515Ser) c.1538T>G (p.Ile513Ser) c.1079T>G (p.Ile360Ser) c.608T>G (p.Ile203Ser) n.2040T>G n.2207T>G c.1955T>G (p.Ile652Ser) c.647T>G (p.Ile216Ser) n.2257T>G n.2230T>G | |
8 | g.141168362C>A | CA4896807 | DENND3 | c.2112C>A (p.Ile704=) c.1872C>A (p.Ile624=) c.1716C>A (p.Ile572=) c.1885C>A n.1653C>A c.1911C>A (p.Ile637=) c.1755C>A (p.Ile585=) c.1878C>A (p.Ile626=) c.1368C>A (p.Ile456=) c.1545C>A (p.Ile515=) c.1539C>A (p.Ile513=) c.1080C>A (p.Ile360=) c.609C>A (p.Ile203=) n.2041C>A n.2208C>A c.1956C>A (p.Ile652=) c.648C>A (p.Ile216=) n.2258C>A n.2231C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168362C>G | CA372344242 | DENND3 | c.2112C>G (p.Ile704Met) c.1872C>G (p.Ile624Met) c.1716C>G (p.Ile572Met) c.1885C>G n.1653C>G c.1911C>G (p.Ile637Met) c.1755C>G (p.Ile585Met) c.1878C>G (p.Ile626Met) c.1368C>G (p.Ile456Met) c.1545C>G (p.Ile515Met) c.1539C>G (p.Ile513Met) c.1080C>G (p.Ile360Met) c.609C>G (p.Ile203Met) n.2041C>G n.2208C>G c.1956C>G (p.Ile652Met) c.648C>G (p.Ile216Met) n.2258C>G n.2231C>G | |
8 | g.141168362C>T | CA463496963 | DENND3 | c.2112C>T (p.Ile704=) c.1872C>T (p.Ile624=) c.1716C>T (p.Ile572=) c.1885C>T n.1653C>T c.1911C>T (p.Ile637=) c.1755C>T (p.Ile585=) c.1878C>T (p.Ile626=) c.1368C>T (p.Ile456=) c.1545C>T (p.Ile515=) c.1539C>T (p.Ile513=) c.1080C>T (p.Ile360=) c.609C>T (p.Ile203=) n.2041C>T n.2208C>T c.1956C>T (p.Ile652=) c.648C>T (p.Ile216=) n.2258C>T n.2231C>T | |
8 | g.141168363C>A | CA372344243 | DENND3 | c.2113C>A (p.Leu705Met) c.1873C>A (p.Leu625Met) c.1717C>A (p.Leu573Met) c.1886C>A n.1654C>A c.1912C>A (p.Leu638Met) c.1756C>A (p.Leu586Met) c.1879C>A (p.Leu627Met) c.1369C>A (p.Leu457Met) c.1546C>A (p.Leu516Met) c.1540C>A (p.Leu514Met) c.1081C>A (p.Leu361Met) c.610C>A (p.Leu204Met) n.2042C>A n.2209C>A c.1957C>A (p.Leu653Met) c.649C>A (p.Leu217Met) n.2259C>A n.2232C>A | |
8 | g.141168363C>G | CA372344244 | DENND3 | c.2113C>G (p.Leu705Val) c.1873C>G (p.Leu625Val) c.1717C>G (p.Leu573Val) c.1886C>G n.1654C>G c.1912C>G (p.Leu638Val) c.1756C>G (p.Leu586Val) c.1879C>G (p.Leu627Val) c.1369C>G (p.Leu457Val) c.1546C>G (p.Leu516Val) c.1540C>G (p.Leu514Val) c.1081C>G (p.Leu361Val) c.610C>G (p.Leu204Val) n.2042C>G n.2209C>G c.1957C>G (p.Leu653Val) c.649C>G (p.Leu217Val) n.2259C>G n.2232C>G | |
8 | g.141168363C>T | CA463496964 | DENND3 | c.2113C>T (p.Leu705=) c.1873C>T (p.Leu625=) c.1717C>T (p.Leu573=) c.1886C>T n.1654C>T c.1912C>T (p.Leu638=) c.1756C>T (p.Leu586=) c.1879C>T (p.Leu627=) c.1369C>T (p.Leu457=) c.1546C>T (p.Leu516=) c.1540C>T (p.Leu514=) c.1081C>T (p.Leu361=) c.610C>T (p.Leu204=) n.2042C>T n.2209C>T c.1957C>T (p.Leu653=) c.649C>T (p.Leu217=) n.2259C>T n.2232C>T | |
8 | g.141168364T>A | CA372344245 | DENND3 | c.2114T>A (p.Leu705Gln) c.1874T>A (p.Leu625Gln) c.1718T>A (p.Leu573Gln) c.1887T>A n.1655T>A c.1913T>A (p.Leu638Gln) c.1757T>A (p.Leu586Gln) c.1880T>A (p.Leu627Gln) c.1370T>A (p.Leu457Gln) c.1547T>A (p.Leu516Gln) c.1541T>A (p.Leu514Gln) c.1082T>A (p.Leu361Gln) c.611T>A (p.Leu204Gln) n.2043T>A n.2210T>A c.1958T>A (p.Leu653Gln) c.650T>A (p.Leu217Gln) n.2260T>A n.2233T>A | dbSNP gnomAD v4 |
8 | g.141168364T>C | CA372344246 | DENND3 | c.2114T>C (p.Leu705Pro) c.1874T>C (p.Leu625Pro) c.1718T>C (p.Leu573Pro) c.1887T>C n.1655T>C c.1913T>C (p.Leu638Pro) c.1757T>C (p.Leu586Pro) c.1880T>C (p.Leu627Pro) c.1370T>C (p.Leu457Pro) c.1547T>C (p.Leu516Pro) c.1541T>C (p.Leu514Pro) c.1082T>C (p.Leu361Pro) c.611T>C (p.Leu204Pro) n.2043T>C n.2210T>C c.1958T>C (p.Leu653Pro) c.650T>C (p.Leu217Pro) n.2260T>C n.2233T>C | gnomAD v4 |
8 | g.141168364T>G | CA372344247 | DENND3 | c.2114T>G (p.Leu705Arg) c.1874T>G (p.Leu625Arg) c.1718T>G (p.Leu573Arg) c.1887T>G n.1655T>G c.1913T>G (p.Leu638Arg) c.1757T>G (p.Leu586Arg) c.1880T>G (p.Leu627Arg) c.1370T>G (p.Leu457Arg) c.1547T>G (p.Leu516Arg) c.1541T>G (p.Leu514Arg) c.1082T>G (p.Leu361Arg) c.611T>G (p.Leu204Arg) n.2043T>G n.2210T>G c.1958T>G (p.Leu653Arg) c.650T>G (p.Leu217Arg) n.2260T>G n.2233T>G | |
8 | g.141168365G>A | CA463496965 | DENND3 | c.2115G>A (p.Leu705=) c.1875G>A (p.Leu625=) c.1719G>A (p.Leu573=) c.1888G>A n.1656G>A c.1914G>A (p.Leu638=) c.1758G>A (p.Leu586=) c.1881G>A (p.Leu627=) c.1371G>A (p.Leu457=) c.1548G>A (p.Leu516=) c.1542G>A (p.Leu514=) c.1083G>A (p.Leu361=) c.612G>A (p.Leu204=) n.2044G>A n.2211G>A c.1959G>A (p.Leu653=) c.651G>A (p.Leu217=) n.2261G>A n.2234G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168365G>C | CA463496966 | DENND3 | c.2115G>C (p.Leu705=) c.1875G>C (p.Leu625=) c.1719G>C (p.Leu573=) c.1888G>C n.1656G>C c.1914G>C (p.Leu638=) c.1758G>C (p.Leu586=) c.1881G>C (p.Leu627=) c.1371G>C (p.Leu457=) c.1548G>C (p.Leu516=) c.1542G>C (p.Leu514=) c.1083G>C (p.Leu361=) c.612G>C (p.Leu204=) n.2044G>C n.2211G>C c.1959G>C (p.Leu653=) c.651G>C (p.Leu217=) n.2261G>C n.2234G>C | |
8 | g.141168365G>T | CA463496967 | DENND3 | c.2115G>T (p.Leu705=) c.1875G>T (p.Leu625=) c.1719G>T (p.Leu573=) c.1888G>T n.1656G>T c.1914G>T (p.Leu638=) c.1758G>T (p.Leu586=) c.1881G>T (p.Leu627=) c.1371G>T (p.Leu457=) c.1548G>T (p.Leu516=) c.1542G>T (p.Leu514=) c.1083G>T (p.Leu361=) c.612G>T (p.Leu204=) n.2044G>T n.2211G>T c.1959G>T (p.Leu653=) c.651G>T (p.Leu217=) n.2261G>T n.2234G>T | |
8 | g.141168366G>A | CA372344248 | DENND3 | c.2116G>A (p.Asp706Asn) c.1876G>A (p.Asp626Asn) c.1720G>A (p.Asp574Asn) c.1889G>A n.1657G>A c.1915G>A (p.Asp639Asn) c.1759G>A (p.Asp587Asn) c.1882G>A (p.Asp628Asn) c.1372G>A (p.Asp458Asn) c.1549G>A (p.Asp517Asn) c.1543G>A (p.Asp515Asn) c.1084G>A (p.Asp362Asn) c.613G>A (p.Asp205Asn) n.2045G>A n.2212G>A c.1960G>A (p.Asp654Asn) c.652G>A (p.Asp218Asn) n.2262G>A n.2235G>A | |
8 | g.141168366G>C | CA372344249 | DENND3 | c.2116G>C (p.Asp706His) c.1876G>C (p.Asp626His) c.1720G>C (p.Asp574His) c.1889G>C n.1657G>C c.1915G>C (p.Asp639His) c.1759G>C (p.Asp587His) c.1882G>C (p.Asp628His) c.1372G>C (p.Asp458His) c.1549G>C (p.Asp517His) c.1543G>C (p.Asp515His) c.1084G>C (p.Asp362His) c.613G>C (p.Asp205His) n.2045G>C n.2212G>C c.1960G>C (p.Asp654His) c.652G>C (p.Asp218His) n.2262G>C n.2235G>C | |
8 | g.141168366G>T | CA372344250 | DENND3 | c.2116G>T (p.Asp706Tyr) c.1876G>T (p.Asp626Tyr) c.1720G>T (p.Asp574Tyr) c.1889G>T n.1657G>T c.1915G>T (p.Asp639Tyr) c.1759G>T (p.Asp587Tyr) c.1882G>T (p.Asp628Tyr) c.1372G>T (p.Asp458Tyr) c.1549G>T (p.Asp517Tyr) c.1543G>T (p.Asp515Tyr) c.1084G>T (p.Asp362Tyr) c.613G>T (p.Asp205Tyr) n.2045G>T n.2212G>T c.1960G>T (p.Asp654Tyr) c.652G>T (p.Asp218Tyr) n.2262G>T n.2235G>T | |
8 | g.141168367A>C | CA372344251 | DENND3 | c.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 | |
8 | g.141168367A>G | CA372344252 | DENND3 | c.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 | |
8 | g.141168367A>T | CA372344253 | DENND3 | c.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 | |
8 | g.141168368C>A | CA372344254 | DENND3 | c.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 |
8 | g.141168368C>G | CA4896808 | DENND3 | c.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 |
8 | g.141168368C>T | CA463496968 | DENND3 | c.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 |
8 | g.141168369A>C | CA372344255 | DENND3 | c.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 | |
8 | g.141168369A>G | CA372344257 | DENND3 | c.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 |
8 | g.141168369A>T | CA372344256 | DENND3 | c.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 | |
8 | g.141168370A>C | CA372344258 | DENND3 | c.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 | |
8 | g.141168370A>G | CA372344260 | DENND3 | c.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 | |
8 | g.141168370A>T | CA372344259 | DENND3 | c.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 | |
8 | g.141168371G>A | CA463496969 | DENND3 | c.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 | |
8 | g.141168371G>C | CA372344261 | DENND3 | c.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 | |
8 | g.141168371G>T | CA372344262 | DENND3 | c.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 | |
8 | g.141168372C>A | CA372344263 | DENND3 | c.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 | |
8 | g.141168372C>G | CA372344265 | DENND3 | c.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 | |
8 | g.141168372C>T | CA372344264 | DENND3 | c.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 | |
8 | g.141168373C>A | CA372344266 | DENND3 | c.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 | |
8 | g.141168373C>G | CA372344267 | DENND3 | c.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 | |
8 | g.141168373C>T | CA4896809 | DENND3 | c.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 |
8 | g.141168374G>A | CA4896810 | DENND3 | c.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 |
8 | g.141168374G>C | CA463496970 | DENND3 | c.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 | |
8 | g.141168374G>T | CA463496971 | DENND3 | c.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 |
8 | g.141168375C>A | CA372344268 | DENND3 | c.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 |
8 | g.141168375C>G | CA372344269 | DENND3 | c.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 | |
8 | g.141168375C>T | CA372344270 | DENND3 | c.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 |
8 | g.141168376A>C | CA372344271 | DENND3 | c.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 | |
8 | g.141168376A>G | CA372344272 | DENND3 | c.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 |
8 | g.141168376A>T | CA372344273 | DENND3 | c.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 |
8 | g.141168377C>A | CA372344275 | DENND3 | c.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 | |
8 | g.141168377C>G | CA372344274 | DENND3 | c.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 | |
8 | g.141168377C>T | CA4896811 | DENND3 | c.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 |
8 | g.141168378G>A | CA372344276 | DENND3 | c.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 |
8 | g.141168378G>C | CA372344277 | DENND3 | c.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 |
8 | g.141168378G>T | CA372344278 | DENND3 | c.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 | |
8 | g.141168379A>C | CA372344279 | DENND3 | c.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 |
8 | g.141168379A>G | CA372344280 | DENND3 | c.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 | |
8 | g.141168379A>T | CA372344281 | DENND3 | c.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 | |
8 | g.141168380G>A | CA463496972 | DENND3 | c.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 | |
8 | g.141168380G>C | CA372344282 | DENND3 | c.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 | |
8 | g.141168380G>T | CA372344283 | DENND3 | c.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 | |
8 | g.141168381G>A | CA372344284 | DENND3 | c.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 | |
8 | g.141168381G>C | CA372344285 | DENND3 | c.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 | |
8 | g.141168381G>T | CA372344286 | DENND3 | c.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 | |
8 | g.141168382C>A | CA372344289 | DENND3 | c.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 | |
8 | g.141168382C>G | CA372344288 | DENND3 | c.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 | |
8 | g.141168382C>T | CA372344287 | DENND3 | c.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 | |
8 | g.141168383C>A | CA463496973 | DENND3 | c.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 | |
8 | g.141168383C>G | CA463496974 | DENND3 | c.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 |
8 | g.141168383C>T | CA463496975 | DENND3 | c.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 | |
8 | g.141168384T>A | CA372344290 | DENND3 | c.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 | |
8 | g.141168384T>C | CA372344291 | DENND3 | c.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 | |
8 | g.141168384T>G | CA372344292 | DENND3 | c.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 | |
8 | g.141168385C>A | CA372344293 | DENND3 | c.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 | |
8 | g.141168385C>G | CA372344294 | DENND3 | c.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 | |
8 | g.141168385C>T | CA187325801 | DENND3 | c.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 |
8 | g.141168386G>A | CA4896812 | DENND3 | c.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 |
8 | g.141168386G>C | CA463496976 | DENND3 | c.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 |
8 | g.141168386G>T | CA463496977 | DENND3 | c.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 | |
8 | g.141168387A>C | CA372344295 | DENND3 | c.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 | |
8 | g.141168387A>G | CA372344296 | DENND3 | c.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 | |
8 | g.141168387A>T | CA372344297 | DENND3 | c.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 | |
8 | g.141168393_141168419del | CA2688780424 | DENND3 | c.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 |
8 | g.141168388A>C | CA372344298 | DENND3 | c.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 | |
8 | g.141168388A>G | CA372344299 | DENND3 | c.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 |
8 | g.141168388A>T | CA372344300 | DENND3 | c.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 | |
8 | g.141168389G>A | CA463496978 | DENND3 | c.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 |
8 | g.141168389G>C | CA372344301 | DENND3 | c.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 | |
8 | g.141168389G>T | CA372344302 | DENND3 | c.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 | |
8 | g.141168390C>A | CA372344303 | DENND3 | c.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 | |
8 | g.141168390C>G | CA372344304 | DENND3 | c.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 | |
8 | g.141168390C>T | CA463496979 | DENND3 | c.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 | |
8 | g.141168391T>A | CA372344305 | DENND3 | c.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 | |
8 | g.141168391T>C | CA372344306 | DENND3 | c.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 | |
8 | g.141168391T>G | CA372344307 | DENND3 | c.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 |
8 | g.141168392G>A | CA463496980 | DENND3 | c.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 | |
8 | g.141168392G>C | CA463496981 | DENND3 | c.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 | |
8 | g.141168392G>T | CA463496982 | DENND3 | c.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 | |
8 | g.141168393G>A | CA372344308 | DENND3 | c.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 |
8 | g.141168393G>C | CA372344309 | DENND3 | c.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 | |
8 | g.141168393G>T | CA372344310 | DENND3 | c.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 | |
8 | g.141168394A>C | CA372344311 | DENND3 | c.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 |
8 | g.141168394A>G | CA372344312 | DENND3 | c.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 |
8 | g.141168394A>T | CA372344313 | DENND3 | c.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 | |
8 | g.141168395C>A | CA4896814 | DENND3 | c.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 |
8 | g.141168395C>G | CA372344314 | DENND3 | c.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 | |
8 | g.141168395C>T | CA4896813 | DENND3 | c.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 |
8 | g.141168396G>A | CA372344315 | DENND3 | c.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 |
8 | g.141168396G>C | CA372344317 | DENND3 | c.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 | |
8 | g.141168396G>T | CA372344316 | DENND3 | c.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 | |
8 | g.141168397A>C | CA372344318 | DENND3 | c.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 | |
8 | g.141168397A>G | CA372344319 | DENND3 | c.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 |
8 | g.141168397A>T | CA372344320 | DENND3 | c.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 | |
8 | g.141168398C>A | CA372344321 | DENND3 | c.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 | |
8 | g.141168398C>G | CA372344322 | DENND3 | c.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 | |
8 | g.141168398C>T | CA463496984 | DENND3 | c.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 | |
8 | g.141168399C>A | CA4896815 | DENND3 | c.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 |
8 | g.141168399C>G | CA372344323 | DENND3 | c.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 |
8 | g.141168399C>T | CA372344324 | DENND3 | c.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 | |
8 | g.141168400del | CA585724934 | DENND3 | c.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 |
8 | g.141168400A>C | CA372344325 | DENND3 | c.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 | |
8 | g.141168400A>G | CA372344326 | DENND3 | c.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 | |
8 | g.141168400A>T | CA372344327 | DENND3 | c.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 | |
8 | g.141168401C>A | CA372344329 | DENND3 | c.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 | |
8 | g.141168401C>G | CA372344328 | DENND3 | c.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 | |
8 | g.141168401C>T | CA4896816 | DENND3 | c.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 |
8 | g.141168402G>A | CA4896817 | DENND3 | c.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 |
8 | g.141168402G>C | CA372344330 | DENND3 | c.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 | |
8 | g.141168402G>T | CA372344331 | DENND3 | c.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 |
8 | g.141168403T>A | CA372344332 | DENND3 | c.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 | |
8 | g.141168403T>C | CA372344333 | DENND3 | c.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 | |
8 | g.141168403T>G | CA372344334 | DENND3 | c.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 | |
8 | g.141168404G>A | CA463496988 | DENND3 | c.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 |
8 | g.141168404G>C | CA463496989 | DENND3 | c.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 | |
8 | g.141168404G>T | CA463496991 | DENND3 | c.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 | |
8 | g.141168405A>C | CA372344335 | DENND3 | c.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 | |
8 | g.141168405A>G | CA372344336 | DENND3 | c.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 | |
8 | g.141168405A>T | CA372344337 | DENND3 | c.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 | |
8 | g.141168406A>C | CA372344338 | DENND3 | c.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 | |
8 | g.141168406A>G | CA372344339 | DENND3 | c.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 | |
8 | g.141168406A>T | CA372344340 | DENND3 | c.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 | |
8 | g.141168407G>A | CA463496992 | DENND3 | c.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 |
8 | g.141168407G>C | CA372344341 | DENND3 | c.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 | |
8 | g.141168407G>T | CA372344342 | DENND3 | c.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 | |
8 | g.141168408A>C | CA372344343 | DENND3 | c.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 | |
8 | g.141168408A>G | CA372344344 | DENND3 | c.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 | |
8 | g.141168408A>T | CA372344345 | DENND3 | c.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 | |
8 | g.141168409A>C | CA372344346 | DENND3 | c.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 | |
8 | g.141168409A>G | CA372344347 | DENND3 | c.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 | |
8 | g.141168409A>T | CA372344348 | DENND3 | c.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 | |
8 | g.141168410del | CA16044030 | DENND3 | c.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 |
8 | g.141168410G>A | CA463496995 | DENND3 | c.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 | |
8 | g.141168410G>C | CA372344349 | DENND3 | c.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 |
8 | g.141168410G>T | CA372344350 | DENND3 | c.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 | |
8 | g.141168411T>A | CA372344351 | DENND3 | c.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 | |
8 | g.141168411T>C | CA372344352 | DENND3 | c.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 | |
8 | g.141168411T>G | CA372344353 | DENND3 | c.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 | |
8 | g.141168412del | CA2695210339 | DENND3 | c.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 | |
8 | g.141168412T>A | CA372344356 | DENND3 | c.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 | |
8 | g.141168412T>C | CA372344354 | DENND3 | c.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 | |
8 | g.141168412T>G | CA372344355 | DENND3 | c.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 | |
8 | g.141168413C>A | CA372344357 | DENND3 | c.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 | |
8 | g.141168413C>G | CA372344358 | DENND3 | c.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 |
8 | g.141168413C>T | CA463496997 | DENND3 | c.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 | |
8 | g.141168414A>C | CA372344359 | DENND3 | c.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 | |
8 | g.141168414A>G | CA4896818 | DENND3 | c.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 |
8 | g.141168414A>T | CA372344360 | DENND3 | c.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 | |
8 | g.141168415A>C | CA372344361 | DENND3 | c.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 | |
8 | g.141168415A>G | CA372344362 | DENND3 | c.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 |
8 | g.141168415A>T | CA372344363 | DENND3 | c.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 | |
8 | g.141168416G>A | CA463496999 | DENND3 | c.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 | |
8 | g.141168416G>C | CA372344364 | DENND3 | c.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 | |
8 | g.141168416G>T | CA372344365 | DENND3 | c.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 | |
8 | g.141168417C>A | CA372344366 | DENND3 | c.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 |
8 | g.141168417C>G | CA4896819 | DENND3 | c.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 |
8 | g.141168417C>T | CA463497000 | DENND3 | c.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 | |
8 | g.141168418T>A | CA372344368 | DENND3 | c.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 | |
8 | g.141168418T>C | CA372344369 | DENND3 | c.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 | |
8 | g.141168418T>G | CA372344367 | DENND3 | c.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 | |
8 | g.141168419G>A | CA463497005 | DENND3 | c.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 |
8 | g.141168419G>C | CA463497003 | DENND3 | c.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 |
8 | g.141168419G>T | CA463497001 | DENND3 | c.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 | |
8 | g.141168420C>A | CA372344371 | DENND3 | c.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 | |
8 | g.141168420C>G | CA372344370 | DENND3 | c.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 | |
8 | g.141168420C>T | CA372344372 | DENND3 | c.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 |
8 | g.141168421C>A | CA372344373 | DENND3 | c.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 | |
8 | g.141168421C>G | CA372344374 | DENND3 | c.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 | |
8 | g.141168421C>T | CA372344375 | DENND3 | c.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 | |
8 | g.141168422C>A | CA463497006 | DENND3 | c.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 | |
8 | g.141168422C>G | CA463497007 | DENND3 | c.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 |
8 | g.141168422C>T | CA463497008 | DENND3 | c.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 | |
8 | g.141168423A>C | CA372344376 | DENND3 | c.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 |
8 | g.141168423A>G | CA372344377 | DENND3 | c.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 |
8 | g.141168423A>T | CA372344378 | DENND3 | c.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 | |
8 | g.141168426_141168428del | CA2688780432 | DENND3 | c.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 |
8 | g.141168424A>C | CA372344379 | DENND3 | c.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 | |
8 | g.141168424A>G | CA372344380 | DENND3 | c.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 |
8 | g.141168424A>T | CA372344381 | DENND3 | c.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 | |
8 | g.141168425del | CA848517121 | DENND3 | c.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 |
8 | g.141168425G>A | CA4896820 | DENND3 | c.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 |
8 | g.141168425G>C | CA372344382 | DENND3 | c.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 | |
8 | g.141168425G>T | CA372344383 | DENND3 | c.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 | |
8 | g.141168426A>C | CA372344386 | DENND3 | c.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 |
8 | g.141168426A>G | CA372344384 | DENND3 | c.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 | |
8 | g.141168426A>T | CA372344385 | DENND3 | c.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 | |
8 | g.141168427A>C | CA372344387 | DENND3 | c.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 | |
8 | g.141168427A>G | CA372344388 | DENND3 | c.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 |
8 | g.141168427A>T | CA372344389 | DENND3 | c.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 | |
8 | g.141168428G>A | CA4896821 | DENND3 | c.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 |
8 | g.141168428G>C | CA372344390 | DENND3 | c.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 | |
8 | g.141168428G>T | CA372344391 | DENND3 | c.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 | |
8 | g.141168429C>A | CA372344392 | DENND3 | c.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 | |
8 | g.141168429C>G | CA4896822 | DENND3 | c.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 |
8 | g.141168429C>T | CA4896823 | DENND3 | c.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 |
8 | g.141168431_141168432del | CA2688780437 | DENND3 | c.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 |
8 | g.141168430A>C | CA372344393 | DENND3 | c.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 | |
8 | g.141168430A>G | CA372344394 | DENND3 | c.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 | |
8 | g.141168430A>T | CA372344395 | DENND3 | c.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 | |
8 | g.141168431C>A | CA372344396 | DENND3 | c.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 | |
8 | g.141168431C>G | CA372344397 | DENND3 | c.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 | |
8 | g.141168431C>T | CA187325855 | DENND3 | c.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 |
8 | g.141168432A>C | CA372344398 | DENND3 | c.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 | |
8 | g.141168432A>G | CA372344399 | DENND3 | c.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 |
8 | g.141168432A>T | CA372344400 | DENND3 | c.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 | |
8 | g.141168433T>A | CA372344401 | DENND3 | c.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 | |
8 | g.141168433T>C | CA187325856 | DENND3 | c.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 |
8 | g.141168433T>G | CA372344402 | DENND3 | c.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 | |
8 | g.141168434G>A | CA372344403 | DENND3 | c.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 | |
8 | g.141168434G>C | CA372344404 | DENND3 | c.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 | |
8 | g.141168434G>T | CA372344405 | DENND3 | c.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 | |
8 | g.141168435C>A | CA372344406 | DENND3 | c.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 | |
8 | g.141168435C>G | CA372344407 | DENND3 | c.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 |
8 | g.141168435C>T | CA372344408 | DENND3 | c.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 |
8 | g.141168436A>C | CA372344411 | DENND3 | c.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 | |
8 | g.141168436A>G | CA372344409 | DENND3 | c.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 | |
8 | g.141168436A>T | CA372344410 | DENND3 | c.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 |