Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
8 | g.141168437G>A | CA4896824 | DENND3 | c.2187G>A (p.Gln729=) c.1947G>A (p.Gln649=) c.1791G>A (p.Gln597=) c.1960G>A n.1728G>A c.1986G>A (p.Gln662=) c.1830G>A (p.Gln610=) c.1953G>A (p.Gln651=) c.1443G>A (p.Gln481=) c.1620G>A (p.Gln540=) c.1614G>A (p.Gln538=) c.1155G>A (p.Gln385=) c.684G>A (p.Gln228=) n.2116G>A n.2283G>A c.2031G>A (p.Gln677=) c.723G>A (p.Gln241=) n.2333G>A n.2306G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168437G>C | CA372344412 | DENND3 | c.2187G>C (p.Gln729His) c.1947G>C (p.Gln649His) c.1791G>C (p.Gln597His) c.1960G>C n.1728G>C c.1986G>C (p.Gln662His) c.1830G>C (p.Gln610His) c.1953G>C (p.Gln651His) c.1443G>C (p.Gln481His) c.1620G>C (p.Gln540His) c.1614G>C (p.Gln538His) c.1155G>C (p.Gln385His) c.684G>C (p.Gln228His) n.2116G>C n.2283G>C c.2031G>C (p.Gln677His) c.723G>C (p.Gln241His) n.2333G>C n.2306G>C | gnomAD v4 |
8 | g.141168437G>T | CA372344413 | DENND3 | c.2187G>T (p.Gln729His) c.1947G>T (p.Gln649His) c.1791G>T (p.Gln597His) c.1960G>T n.1728G>T c.1986G>T (p.Gln662His) c.1830G>T (p.Gln610His) c.1953G>T (p.Gln651His) c.1443G>T (p.Gln481His) c.1620G>T (p.Gln540His) c.1614G>T (p.Gln538His) c.1155G>T (p.Gln385His) c.684G>T (p.Gln228His) n.2116G>T n.2283G>T c.2031G>T (p.Gln677His) c.723G>T (p.Gln241His) n.2333G>T n.2306G>T | |
8 | g.141168438C>A | CA372344414 | DENND3 | c.2188C>A (p.Leu730Met) c.1948C>A (p.Leu650Met) c.1792C>A (p.Leu598Met) c.1961C>A n.1729C>A c.1987C>A (p.Leu663Met) c.1831C>A (p.Leu611Met) c.1954C>A (p.Leu652Met) c.1444C>A (p.Leu482Met) c.1621C>A (p.Leu541Met) c.1615C>A (p.Leu539Met) c.1156C>A (p.Leu386Met) c.685C>A (p.Leu229Met) n.2117C>A n.2284C>A c.2032C>A (p.Leu678Met) c.724C>A (p.Leu242Met) n.2334C>A n.2307C>A | |
8 | g.141168438C>G | CA372344415 | DENND3 | c.2188C>G (p.Leu730Val) c.1948C>G (p.Leu650Val) c.1792C>G (p.Leu598Val) c.1961C>G n.1729C>G c.1987C>G (p.Leu663Val) c.1831C>G (p.Leu611Val) c.1954C>G (p.Leu652Val) c.1444C>G (p.Leu482Val) c.1621C>G (p.Leu541Val) c.1615C>G (p.Leu539Val) c.1156C>G (p.Leu386Val) c.685C>G (p.Leu229Val) n.2117C>G n.2284C>G c.2032C>G (p.Leu678Val) c.724C>G (p.Leu242Val) n.2334C>G n.2307C>G | |
8 | g.141168438C>T | CA463497016 | DENND3 | c.2188C>T (p.Leu730=) c.1948C>T (p.Leu650=) c.1792C>T (p.Leu598=) c.1961C>T n.1729C>T c.1987C>T (p.Leu663=) c.1831C>T (p.Leu611=) c.1954C>T (p.Leu652=) c.1444C>T (p.Leu482=) c.1621C>T (p.Leu541=) c.1615C>T (p.Leu539=) c.1156C>T (p.Leu386=) c.685C>T (p.Leu229=) n.2117C>T n.2284C>T c.2032C>T (p.Leu678=) c.724C>T (p.Leu242=) n.2334C>T n.2307C>T | |
8 | g.141168439T>A | CA372344416 | DENND3 | c.2189T>A (p.Leu730Gln) c.1949T>A (p.Leu650Gln) c.1793T>A (p.Leu598Gln) c.1962T>A n.1730T>A c.1988T>A (p.Leu663Gln) c.1832T>A (p.Leu611Gln) c.1955T>A (p.Leu652Gln) c.1445T>A (p.Leu482Gln) c.1622T>A (p.Leu541Gln) c.1616T>A (p.Leu539Gln) c.1157T>A (p.Leu386Gln) c.686T>A (p.Leu229Gln) n.2118T>A n.2285T>A c.2033T>A (p.Leu678Gln) c.725T>A (p.Leu242Gln) n.2335T>A n.2308T>A | |
8 | g.141168439T>C | CA372344417 | DENND3 | c.2189T>C (p.Leu730Pro) c.1949T>C (p.Leu650Pro) c.1793T>C (p.Leu598Pro) c.1962T>C n.1730T>C c.1988T>C (p.Leu663Pro) c.1832T>C (p.Leu611Pro) c.1955T>C (p.Leu652Pro) c.1445T>C (p.Leu482Pro) c.1622T>C (p.Leu541Pro) c.1616T>C (p.Leu539Pro) c.1157T>C (p.Leu386Pro) c.686T>C (p.Leu229Pro) n.2118T>C n.2285T>C c.2033T>C (p.Leu678Pro) c.725T>C (p.Leu242Pro) n.2335T>C n.2308T>C | |
8 | g.141168439T>G | CA372344418 | DENND3 | c.2189T>G (p.Leu730Arg) c.1949T>G (p.Leu650Arg) c.1793T>G (p.Leu598Arg) c.1962T>G n.1730T>G c.1988T>G (p.Leu663Arg) c.1832T>G (p.Leu611Arg) c.1955T>G (p.Leu652Arg) c.1445T>G (p.Leu482Arg) c.1622T>G (p.Leu541Arg) c.1616T>G (p.Leu539Arg) c.1157T>G (p.Leu386Arg) c.686T>G (p.Leu229Arg) n.2118T>G n.2285T>G c.2033T>G (p.Leu678Arg) c.725T>G (p.Leu242Arg) n.2335T>G n.2308T>G | |
8 | g.141168440G>A | CA4896825 | DENND3 | c.2190G>A (p.Leu730=) c.1950G>A (p.Leu650=) c.1794G>A (p.Leu598=) c.1963G>A n.1731G>A c.1989G>A (p.Leu663=) c.1833G>A (p.Leu611=) c.1956G>A (p.Leu652=) c.1446G>A (p.Leu482=) c.1623G>A (p.Leu541=) c.1617G>A (p.Leu539=) c.1158G>A (p.Leu386=) c.687G>A (p.Leu229=) n.2119G>A n.2286G>A c.2034G>A (p.Leu678=) c.726G>A (p.Leu242=) n.2336G>A n.2309G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168440G>C | CA463497019 | DENND3 | c.2190G>C (p.Leu730=) c.1950G>C (p.Leu650=) c.1794G>C (p.Leu598=) c.1963G>C n.1731G>C c.1989G>C (p.Leu663=) c.1833G>C (p.Leu611=) c.1956G>C (p.Leu652=) c.1446G>C (p.Leu482=) c.1623G>C (p.Leu541=) c.1617G>C (p.Leu539=) c.1158G>C (p.Leu386=) c.687G>C (p.Leu229=) n.2119G>C n.2286G>C c.2034G>C (p.Leu678=) c.726G>C (p.Leu242=) n.2336G>C n.2309G>C | |
8 | g.141168440G>T | CA463497018 | DENND3 | c.2190G>T (p.Leu730=) c.1950G>T (p.Leu650=) c.1794G>T (p.Leu598=) c.1963G>T n.1731G>T c.1989G>T (p.Leu663=) c.1833G>T (p.Leu611=) c.1956G>T (p.Leu652=) c.1446G>T (p.Leu482=) c.1623G>T (p.Leu541=) c.1617G>T (p.Leu539=) c.1158G>T (p.Leu386=) c.687G>T (p.Leu229=) n.2119G>T n.2286G>T c.2034G>T (p.Leu678=) c.726G>T (p.Leu242=) n.2336G>T n.2309G>T | |
8 | g.141168441G>A | CA372344419 | DENND3 | c.2191G>A (p.Gly731Ser) c.1951G>A (p.Gly651Ser) c.1795G>A (p.Gly599Ser) c.1964G>A n.1732G>A c.1990G>A (p.Gly664Ser) c.1834G>A (p.Gly612Ser) c.1957G>A (p.Gly653Ser) c.1447G>A (p.Gly483Ser) c.1624G>A (p.Gly542Ser) c.1618G>A (p.Gly540Ser) c.1159G>A (p.Gly387Ser) c.688G>A (p.Gly230Ser) n.2120G>A n.2287G>A c.2035G>A (p.Gly679Ser) c.727G>A (p.Gly243Ser) n.2337G>A n.2310G>A | |
8 | g.141168441G>C | CA372344420 | DENND3 | c.2191G>C (p.Gly731Arg) c.1951G>C (p.Gly651Arg) c.1795G>C (p.Gly599Arg) c.1964G>C n.1732G>C c.1990G>C (p.Gly664Arg) c.1834G>C (p.Gly612Arg) c.1957G>C (p.Gly653Arg) c.1447G>C (p.Gly483Arg) c.1624G>C (p.Gly542Arg) c.1618G>C (p.Gly540Arg) c.1159G>C (p.Gly387Arg) c.688G>C (p.Gly230Arg) n.2120G>C n.2287G>C c.2035G>C (p.Gly679Arg) c.727G>C (p.Gly243Arg) n.2337G>C n.2310G>C | |
8 | g.141168441G>T | CA372344421 | DENND3 | c.2191G>T (p.Gly731Cys) c.1951G>T (p.Gly651Cys) c.1795G>T (p.Gly599Cys) c.1964G>T n.1732G>T c.1990G>T (p.Gly664Cys) c.1834G>T (p.Gly612Cys) c.1957G>T (p.Gly653Cys) c.1447G>T (p.Gly483Cys) c.1624G>T (p.Gly542Cys) c.1618G>T (p.Gly540Cys) c.1159G>T (p.Gly387Cys) c.688G>T (p.Gly230Cys) n.2120G>T n.2287G>T c.2035G>T (p.Gly679Cys) c.727G>T (p.Gly243Cys) n.2337G>T n.2310G>T | gnomAD v4 |
8 | g.141168442G>A | CA372344423 | DENND3 | c.2192G>A (p.Gly731Asp) c.1952G>A (p.Gly651Asp) c.1796G>A (p.Gly599Asp) c.1965G>A n.1733G>A c.1991G>A (p.Gly664Asp) c.1835G>A (p.Gly612Asp) c.1958G>A (p.Gly653Asp) c.1448G>A (p.Gly483Asp) c.1625G>A (p.Gly542Asp) c.1619G>A (p.Gly540Asp) c.1160G>A (p.Gly387Asp) c.689G>A (p.Gly230Asp) n.2121G>A n.2288G>A c.2036G>A (p.Gly679Asp) c.728G>A (p.Gly243Asp) n.2338G>A n.2311G>A | |
8 | g.141168442G>C | CA372344424 | DENND3 | c.2192G>C (p.Gly731Ala) c.1952G>C (p.Gly651Ala) c.1796G>C (p.Gly599Ala) c.1965G>C n.1733G>C c.1991G>C (p.Gly664Ala) c.1835G>C (p.Gly612Ala) c.1958G>C (p.Gly653Ala) c.1448G>C (p.Gly483Ala) c.1625G>C (p.Gly542Ala) c.1619G>C (p.Gly540Ala) c.1160G>C (p.Gly387Ala) c.689G>C (p.Gly230Ala) n.2121G>C n.2288G>C c.2036G>C (p.Gly679Ala) c.728G>C (p.Gly243Ala) n.2338G>C n.2311G>C | |
8 | g.141168442G>T | CA372344422 | DENND3 | c.2192G>T (p.Gly731Val) c.1952G>T (p.Gly651Val) c.1796G>T (p.Gly599Val) c.1965G>T n.1733G>T c.1991G>T (p.Gly664Val) c.1835G>T (p.Gly612Val) c.1958G>T (p.Gly653Val) c.1448G>T (p.Gly483Val) c.1625G>T (p.Gly542Val) c.1619G>T (p.Gly540Val) c.1160G>T (p.Gly387Val) c.689G>T (p.Gly230Val) n.2121G>T n.2288G>T c.2036G>T (p.Gly679Val) c.728G>T (p.Gly243Val) n.2338G>T n.2311G>T | |
8 | g.141168443C>A | CA4896826 | DENND3 | c.2193C>A (p.Gly731=) c.1953C>A (p.Gly651=) c.1797C>A (p.Gly599=) c.1966C>A n.1734C>A c.1992C>A (p.Gly664=) c.1836C>A (p.Gly612=) c.1959C>A (p.Gly653=) c.1449C>A (p.Gly483=) c.1626C>A (p.Gly542=) c.1620C>A (p.Gly540=) c.1161C>A (p.Gly387=) c.690C>A (p.Gly230=) n.2122C>A n.2289C>A c.2037C>A (p.Gly679=) c.729C>A (p.Gly243=) n.2339C>A n.2312C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168443C>G | CA463497021 | DENND3 | c.2193C>G (p.Gly731=) c.1953C>G (p.Gly651=) c.1797C>G (p.Gly599=) c.1966C>G n.1734C>G c.1992C>G (p.Gly664=) c.1836C>G (p.Gly612=) c.1959C>G (p.Gly653=) c.1449C>G (p.Gly483=) c.1626C>G (p.Gly542=) c.1620C>G (p.Gly540=) c.1161C>G (p.Gly387=) c.690C>G (p.Gly230=) n.2122C>G n.2289C>G c.2037C>G (p.Gly679=) c.729C>G (p.Gly243=) n.2339C>G n.2312C>G | |
8 | g.141168443C>T | CA4896827 | DENND3 | c.2193C>T (p.Gly731=) c.1953C>T (p.Gly651=) c.1797C>T (p.Gly599=) c.1966C>T n.1734C>T c.1992C>T (p.Gly664=) c.1836C>T (p.Gly612=) c.1959C>T (p.Gly653=) c.1449C>T (p.Gly483=) c.1626C>T (p.Gly542=) c.1620C>T (p.Gly540=) c.1161C>T (p.Gly387=) c.690C>T (p.Gly230=) n.2122C>T n.2289C>T c.2037C>T (p.Gly679=) c.729C>T (p.Gly243=) n.2339C>T n.2312C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168444G>A | CA4896828 | DENND3 | c.2194G>A (p.Asp732Asn) c.1954G>A (p.Asp652Asn) c.1798G>A (p.Asp600Asn) c.1967G>A n.1735G>A c.1993G>A (p.Asp665Asn) c.1837G>A (p.Asp613Asn) c.1960G>A (p.Asp654Asn) c.1450G>A (p.Asp484Asn) c.1627G>A (p.Asp543Asn) c.1621G>A (p.Asp541Asn) c.1162G>A (p.Asp388Asn) c.691G>A (p.Asp231Asn) n.2123G>A n.2290G>A c.2038G>A (p.Asp680Asn) c.730G>A (p.Asp244Asn) n.2340G>A n.2313G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168444G>C | CA372344425 | DENND3 | c.2194G>C (p.Asp732His) c.1954G>C (p.Asp652His) c.1798G>C (p.Asp600His) c.1967G>C n.1735G>C c.1993G>C (p.Asp665His) c.1837G>C (p.Asp613His) c.1960G>C (p.Asp654His) c.1450G>C (p.Asp484His) c.1627G>C (p.Asp543His) c.1621G>C (p.Asp541His) c.1162G>C (p.Asp388His) c.691G>C (p.Asp231His) n.2123G>C n.2290G>C c.2038G>C (p.Asp680His) c.730G>C (p.Asp244His) n.2340G>C n.2313G>C | |
8 | g.141168444G>T | CA372344426 | DENND3 | c.2194G>T (p.Asp732Tyr) c.1954G>T (p.Asp652Tyr) c.1798G>T (p.Asp600Tyr) c.1967G>T n.1735G>T c.1993G>T (p.Asp665Tyr) c.1837G>T (p.Asp613Tyr) c.1960G>T (p.Asp654Tyr) c.1450G>T (p.Asp484Tyr) c.1627G>T (p.Asp543Tyr) c.1621G>T (p.Asp541Tyr) c.1162G>T (p.Asp388Tyr) c.691G>T (p.Asp231Tyr) n.2123G>T n.2290G>T c.2038G>T (p.Asp680Tyr) c.730G>T (p.Asp244Tyr) n.2340G>T n.2313G>T | |
8 | g.141168445del | CA2688780441 | DENND3 | c.2195del (p.Asp732AlafsTer3) c.1955del (p.Asp652AlafsTer3) c.1799del (p.Asp600AlafsTer3) c.1968del n.1736del c.1994del (p.Asp665AlafsTer3) c.1838del (p.Asp613AlafsTer3) c.1961del (p.Asp654AlafsTer3) c.1451del (p.Asp484AlafsTer3) c.1628del (p.Asp543AlafsTer3) c.1622del (p.Asp541AlafsTer3) c.1163del (p.Asp388AlafsTer3) c.692del (p.Asp231AlafsTer3) n.2124del n.2291del c.2039del (p.Asp680AlafsTer3) c.731del (p.Asp244AlafsTer3) n.2341del n.2314del | gnomAD v4 |
8 | g.141168445A>C | CA372344427 | DENND3 | c.2195A>C (p.Asp732Ala) c.1955A>C (p.Asp652Ala) c.1799A>C (p.Asp600Ala) c.1968A>C n.1736A>C c.1994A>C (p.Asp665Ala) c.1838A>C (p.Asp613Ala) c.1961A>C (p.Asp654Ala) c.1451A>C (p.Asp484Ala) c.1628A>C (p.Asp543Ala) c.1622A>C (p.Asp541Ala) c.1163A>C (p.Asp388Ala) c.692A>C (p.Asp231Ala) n.2124A>C n.2291A>C c.2039A>C (p.Asp680Ala) c.731A>C (p.Asp244Ala) n.2341A>C n.2314A>C | |
8 | g.141168445A>G | CA372344428 | DENND3 | c.2195A>G (p.Asp732Gly) c.1955A>G (p.Asp652Gly) c.1799A>G (p.Asp600Gly) c.1968A>G n.1736A>G c.1994A>G (p.Asp665Gly) c.1838A>G (p.Asp613Gly) c.1961A>G (p.Asp654Gly) c.1451A>G (p.Asp484Gly) c.1628A>G (p.Asp543Gly) c.1622A>G (p.Asp541Gly) c.1163A>G (p.Asp388Gly) c.692A>G (p.Asp231Gly) n.2124A>G n.2291A>G c.2039A>G (p.Asp680Gly) c.731A>G (p.Asp244Gly) n.2341A>G n.2314A>G | |
8 | g.141168445A>T | CA372344429 | DENND3 | c.2195A>T (p.Asp732Val) c.1955A>T (p.Asp652Val) c.1799A>T (p.Asp600Val) c.1968A>T n.1736A>T c.1994A>T (p.Asp665Val) c.1838A>T (p.Asp613Val) c.1961A>T (p.Asp654Val) c.1451A>T (p.Asp484Val) c.1628A>T (p.Asp543Val) c.1622A>T (p.Asp541Val) c.1163A>T (p.Asp388Val) c.692A>T (p.Asp231Val) n.2124A>T n.2291A>T c.2039A>T (p.Asp680Val) c.731A>T (p.Asp244Val) n.2341A>T n.2314A>T | |
8 | g.141168446C>A | CA4896829 | DENND3 | c.2196C>A (p.Asp732Glu) c.1956C>A (p.Asp652Glu) c.1800C>A (p.Asp600Glu) c.1969C>A n.1737C>A c.1995C>A (p.Asp665Glu) c.1839C>A (p.Asp613Glu) c.1962C>A (p.Asp654Glu) c.1452C>A (p.Asp484Glu) c.1629C>A (p.Asp543Glu) c.1623C>A (p.Asp541Glu) c.1164C>A (p.Asp388Glu) c.693C>A (p.Asp231Glu) n.2125C>A n.2292C>A c.2040C>A (p.Asp680Glu) c.732C>A (p.Asp244Glu) n.2342C>A n.2315C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168446C>G | CA372344430 | DENND3 | c.2196C>G (p.Asp732Glu) c.1956C>G (p.Asp652Glu) c.1800C>G (p.Asp600Glu) c.1969C>G n.1737C>G c.1995C>G (p.Asp665Glu) c.1839C>G (p.Asp613Glu) c.1962C>G (p.Asp654Glu) c.1452C>G (p.Asp484Glu) c.1629C>G (p.Asp543Glu) c.1623C>G (p.Asp541Glu) c.1164C>G (p.Asp388Glu) c.693C>G (p.Asp231Glu) n.2125C>G n.2292C>G c.2040C>G (p.Asp680Glu) c.732C>G (p.Asp244Glu) n.2342C>G n.2315C>G | |
8 | g.141168446C>T | CA463497024 | DENND3 | c.2196C>T (p.Asp732=) c.1956C>T (p.Asp652=) c.1800C>T (p.Asp600=) c.1969C>T n.1737C>T c.1995C>T (p.Asp665=) c.1839C>T (p.Asp613=) c.1962C>T (p.Asp654=) c.1452C>T (p.Asp484=) c.1629C>T (p.Asp543=) c.1623C>T (p.Asp541=) c.1164C>T (p.Asp388=) c.693C>T (p.Asp231=) n.2125C>T n.2292C>T c.2040C>T (p.Asp680=) c.732C>T (p.Asp244=) n.2342C>T n.2315C>T | gnomAD v4 |
8 | g.141168447T>A | CA372344431 | DENND3 | c.2197T>A (p.Phe733Ile) c.1957T>A (p.Phe653Ile) c.1801T>A (p.Phe601Ile) c.1970T>A n.1738T>A c.1996T>A (p.Phe666Ile) c.1840T>A (p.Phe614Ile) c.1963T>A (p.Phe655Ile) c.1453T>A (p.Phe485Ile) c.1630T>A (p.Phe544Ile) c.1624T>A (p.Phe542Ile) c.1165T>A (p.Phe389Ile) c.694T>A (p.Phe232Ile) n.2126T>A n.2293T>A c.2041T>A (p.Phe681Ile) c.733T>A (p.Phe245Ile) n.2343T>A n.2316T>A | |
8 | g.141168447T>C | CA372344432 | DENND3 | c.2197T>C (p.Phe733Leu) c.1957T>C (p.Phe653Leu) c.1801T>C (p.Phe601Leu) c.1970T>C n.1738T>C c.1996T>C (p.Phe666Leu) c.1840T>C (p.Phe614Leu) c.1963T>C (p.Phe655Leu) c.1453T>C (p.Phe485Leu) c.1630T>C (p.Phe544Leu) c.1624T>C (p.Phe542Leu) c.1165T>C (p.Phe389Leu) c.694T>C (p.Phe232Leu) n.2126T>C n.2293T>C c.2041T>C (p.Phe681Leu) c.733T>C (p.Phe245Leu) n.2343T>C n.2316T>C | |
8 | g.141168447T>G | CA372344433 | DENND3 | c.2197T>G (p.Phe733Val) c.1957T>G (p.Phe653Val) c.1801T>G (p.Phe601Val) c.1970T>G n.1738T>G c.1996T>G (p.Phe666Val) c.1840T>G (p.Phe614Val) c.1963T>G (p.Phe655Val) c.1453T>G (p.Phe485Val) c.1630T>G (p.Phe544Val) c.1624T>G (p.Phe542Val) c.1165T>G (p.Phe389Val) c.694T>G (p.Phe232Val) n.2126T>G n.2293T>G c.2041T>G (p.Phe681Val) c.733T>G (p.Phe245Val) n.2343T>G n.2316T>G | |
8 | g.141168448T>A | CA372344436 | DENND3 | c.2198T>A (p.Phe733Tyr) c.1958T>A (p.Phe653Tyr) c.1802T>A (p.Phe601Tyr) c.1971T>A n.1739T>A c.1997T>A (p.Phe666Tyr) c.1841T>A (p.Phe614Tyr) c.1964T>A (p.Phe655Tyr) c.1454T>A (p.Phe485Tyr) c.1631T>A (p.Phe544Tyr) c.1625T>A (p.Phe542Tyr) c.1166T>A (p.Phe389Tyr) c.695T>A (p.Phe232Tyr) n.2127T>A n.2294T>A c.2042T>A (p.Phe681Tyr) c.734T>A (p.Phe245Tyr) n.2344T>A n.2317T>A | |
8 | g.141168448T>C | CA372344435 | DENND3 | c.2198T>C (p.Phe733Ser) c.1958T>C (p.Phe653Ser) c.1802T>C (p.Phe601Ser) c.1971T>C n.1739T>C c.1997T>C (p.Phe666Ser) c.1841T>C (p.Phe614Ser) c.1964T>C (p.Phe655Ser) c.1454T>C (p.Phe485Ser) c.1631T>C (p.Phe544Ser) c.1625T>C (p.Phe542Ser) c.1166T>C (p.Phe389Ser) c.695T>C (p.Phe232Ser) n.2127T>C n.2294T>C c.2042T>C (p.Phe681Ser) c.734T>C (p.Phe245Ser) n.2344T>C n.2317T>C | |
8 | g.141168448T>G | CA372344434 | DENND3 | c.2198T>G (p.Phe733Cys) c.1958T>G (p.Phe653Cys) c.1802T>G (p.Phe601Cys) c.1971T>G n.1739T>G c.1997T>G (p.Phe666Cys) c.1841T>G (p.Phe614Cys) c.1964T>G (p.Phe655Cys) c.1454T>G (p.Phe485Cys) c.1631T>G (p.Phe544Cys) c.1625T>G (p.Phe542Cys) c.1166T>G (p.Phe389Cys) c.695T>G (p.Phe232Cys) n.2127T>G n.2294T>G c.2042T>G (p.Phe681Cys) c.734T>G (p.Phe245Cys) n.2344T>G n.2317T>G | |
8 | g.141168448_141168449insTCTGGAGGGAG | CA2688780442 | DENND3 | c.2198_2199insTCTGGAGGGAG (p.Met734LeufsTer5) c.1958_1959insTCTGGAGGGAG (p.Met654LeufsTer5) c.1802_1803insTCTGGAGGGAG (p.Met602LeufsTer5) c.1971_1972insTCTGGAGGGAG n.1739_1740insTCTGGAGGGAG c.1997_1998insTCTGGAGGGAG (p.Met667LeufsTer5) c.1841_1842insTCTGGAGGGAG (p.Met615LeufsTer5) c.1964_1965insTCTGGAGGGAG (p.Met656LeufsTer5) c.1454_1455insTCTGGAGGGAG (p.Met486LeufsTer5) c.1631_1632insTCTGGAGGGAG (p.Met545LeufsTer5) c.1625_1626insTCTGGAGGGAG (p.Met543LeufsTer5) c.1166_1167insTCTGGAGGGAG (p.Met390LeufsTer5) c.695_696insTCTGGAGGGAG (p.Met233LeufsTer5) n.2127_2128insTCTGGAGGGAG n.2294_2295insTCTGGAGGGAG c.2042_2043insTCTGGAGGGAG (p.Met682LeufsTer5) c.734_735insTCTGGAGGGAG (p.Met246LeufsTer5) n.2344_2345insTCTGGAGGGAG n.2317_2318insTCTGGAGGGAG | gnomAD v4 |
8 | g.141168449C>A | CA372344437 | DENND3 | c.2199C>A (p.Phe733Leu) c.1959C>A (p.Phe653Leu) c.1803C>A (p.Phe601Leu) c.1972C>A n.1740C>A c.1998C>A (p.Phe666Leu) c.1842C>A (p.Phe614Leu) c.1965C>A (p.Phe655Leu) c.1455C>A (p.Phe485Leu) c.1632C>A (p.Phe544Leu) c.1626C>A (p.Phe542Leu) c.1167C>A (p.Phe389Leu) c.696C>A (p.Phe232Leu) n.2128C>A n.2295C>A c.2043C>A (p.Phe681Leu) c.735C>A (p.Phe245Leu) n.2345C>A n.2318C>A | |
8 | g.141168449C>G | CA372344438 | DENND3 | c.2199C>G (p.Phe733Leu) c.1959C>G (p.Phe653Leu) c.1803C>G (p.Phe601Leu) c.1972C>G n.1740C>G c.1998C>G (p.Phe666Leu) c.1842C>G (p.Phe614Leu) c.1965C>G (p.Phe655Leu) c.1455C>G (p.Phe485Leu) c.1632C>G (p.Phe544Leu) c.1626C>G (p.Phe542Leu) c.1167C>G (p.Phe389Leu) c.696C>G (p.Phe232Leu) n.2128C>G n.2295C>G c.2043C>G (p.Phe681Leu) c.735C>G (p.Phe245Leu) n.2345C>G n.2318C>G | |
8 | g.141168449C>T | CA463497027 | DENND3 | c.2199C>T (p.Phe733=) c.1959C>T (p.Phe653=) c.1803C>T (p.Phe601=) c.1972C>T n.1740C>T c.1998C>T (p.Phe666=) c.1842C>T (p.Phe614=) c.1965C>T (p.Phe655=) c.1455C>T (p.Phe485=) c.1632C>T (p.Phe544=) c.1626C>T (p.Phe542=) c.1167C>T (p.Phe389=) c.696C>T (p.Phe232=) n.2128C>T n.2295C>T c.2043C>T (p.Phe681=) c.735C>T (p.Phe245=) n.2345C>T n.2318C>T | |
8 | g.141168450A>C | CA372344439 | DENND3 | c.2200A>C (p.Met734Leu) c.1960A>C (p.Met654Leu) c.1804A>C (p.Met602Leu) c.1973A>C n.1741A>C c.1999A>C (p.Met667Leu) c.1843A>C (p.Met615Leu) c.1966A>C (p.Met656Leu) c.1456A>C (p.Met486Leu) c.1633A>C (p.Met545Leu) c.1627A>C (p.Met543Leu) c.1168A>C (p.Met390Leu) c.697A>C (p.Met233Leu) n.2129A>C n.2296A>C c.2044A>C (p.Met682Leu) c.736A>C (p.Met246Leu) n.2346A>C n.2319A>C | gnomAD v4 |
8 | g.141168450A>G | CA372344440 | DENND3 | c.2200A>G (p.Met734Val) c.1960A>G (p.Met654Val) c.1804A>G (p.Met602Val) c.1973A>G n.1741A>G c.1999A>G (p.Met667Val) c.1843A>G (p.Met615Val) c.1966A>G (p.Met656Val) c.1456A>G (p.Met486Val) c.1633A>G (p.Met545Val) c.1627A>G (p.Met543Val) c.1168A>G (p.Met390Val) c.697A>G (p.Met233Val) n.2129A>G n.2296A>G c.2044A>G (p.Met682Val) c.736A>G (p.Met246Val) n.2346A>G n.2319A>G | COSMIC |
8 | g.141168450A>T | CA372344441 | DENND3 | c.2200A>T (p.Met734Leu) c.1960A>T (p.Met654Leu) c.1804A>T (p.Met602Leu) c.1973A>T n.1741A>T c.1999A>T (p.Met667Leu) c.1843A>T (p.Met615Leu) c.1966A>T (p.Met656Leu) c.1456A>T (p.Met486Leu) c.1633A>T (p.Met545Leu) c.1627A>T (p.Met543Leu) c.1168A>T (p.Met390Leu) c.697A>T (p.Met233Leu) n.2129A>T n.2296A>T c.2044A>T (p.Met682Leu) c.736A>T (p.Met246Leu) n.2346A>T n.2319A>T | |
8 | g.141168450_141168451insCACCCATTCTCATTTTATTT | CA2688780443 | DENND3 | c.2200_2201insCACCCATTCTCATTTTATTT (p.Met734ThrfsTer8) c.1960_1961insCACCCATTCTCATTTTATTT (p.Met654ThrfsTer8) c.1804_1805insCACCCATTCTCATTTTATTT (p.Met602ThrfsTer8) c.1973_1974insCACCCATTCTCATTTTATTT n.1741_1742insCACCCATTCTCATTTTATTT c.1999_2000insCACCCATTCTCATTTTATTT (p.Met667ThrfsTer8) c.1843_1844insCACCCATTCTCATTTTATTT (p.Met615ThrfsTer8) c.1966_1967insCACCCATTCTCATTTTATTT (p.Met656ThrfsTer8) c.1456_1457insCACCCATTCTCATTTTATTT (p.Met486ThrfsTer8) c.1633_1634insCACCCATTCTCATTTTATTT (p.Met545ThrfsTer8) c.1627_1628insCACCCATTCTCATTTTATTT (p.Met543ThrfsTer8) c.1168_1169insCACCCATTCTCATTTTATTT (p.Met390ThrfsTer8) c.697_698insCACCCATTCTCATTTTATTT (p.Met233ThrfsTer8) n.2129_2130insCACCCATTCTCATTTTATTT n.2296_2297insCACCCATTCTCATTTTATTT c.2044_2045insCACCCATTCTCATTTTATTT (p.Met682ThrfsTer8) c.736_737insCACCCATTCTCATTTTATTT (p.Met246ThrfsTer8) n.2346_2347insCACCCATTCTCATTTTATTT n.2319_2320insCACCCATTCTCATTTTATTT | gnomAD v4 |
8 | g.141168451T>A | CA372344442 | DENND3 | c.2201T>A (p.Met734Lys) c.1961T>A (p.Met654Lys) c.1805T>A (p.Met602Lys) c.1974T>A n.1742T>A c.2000T>A (p.Met667Lys) c.1844T>A (p.Met615Lys) c.1967T>A (p.Met656Lys) c.1457T>A (p.Met486Lys) c.1634T>A (p.Met545Lys) c.1628T>A (p.Met543Lys) c.1169T>A (p.Met390Lys) c.698T>A (p.Met233Lys) n.2130T>A n.2297T>A c.2045T>A (p.Met682Lys) c.737T>A (p.Met246Lys) n.2347T>A n.2320T>A | |
8 | g.141168451T>C | CA372344443 | DENND3 | c.2201T>C (p.Met734Thr) c.1961T>C (p.Met654Thr) c.1805T>C (p.Met602Thr) c.1974T>C n.1742T>C c.2000T>C (p.Met667Thr) c.1844T>C (p.Met615Thr) c.1967T>C (p.Met656Thr) c.1457T>C (p.Met486Thr) c.1634T>C (p.Met545Thr) c.1628T>C (p.Met543Thr) c.1169T>C (p.Met390Thr) c.698T>C (p.Met233Thr) n.2130T>C n.2297T>C c.2045T>C (p.Met682Thr) c.737T>C (p.Met246Thr) n.2347T>C n.2320T>C | |
8 | g.141168451T>G | CA372344444 | DENND3 | c.2201T>G (p.Met734Arg) c.1961T>G (p.Met654Arg) c.1805T>G (p.Met602Arg) c.1974T>G n.1742T>G c.2000T>G (p.Met667Arg) c.1844T>G (p.Met615Arg) c.1967T>G (p.Met656Arg) c.1457T>G (p.Met486Arg) c.1634T>G (p.Met545Arg) c.1628T>G (p.Met543Arg) c.1169T>G (p.Met390Arg) c.698T>G (p.Met233Arg) n.2130T>G n.2297T>G c.2045T>G (p.Met682Arg) c.737T>G (p.Met246Arg) n.2347T>G n.2320T>G | |
8 | g.141168452G>A | CA372344445 | DENND3 | c.2202G>A (p.Met734Ile) c.1962G>A (p.Met654Ile) c.1806G>A (p.Met602Ile) c.1975G>A n.1743G>A c.2001G>A (p.Met667Ile) c.1845G>A (p.Met615Ile) c.1968G>A (p.Met656Ile) c.1458G>A (p.Met486Ile) c.1635G>A (p.Met545Ile) c.1629G>A (p.Met543Ile) c.1170G>A (p.Met390Ile) c.699G>A (p.Met233Ile) n.2131G>A n.2298G>A c.2046G>A (p.Met682Ile) c.738G>A (p.Met246Ile) n.2348G>A n.2321G>A | |
8 | g.141168452G>C | CA372344446 | DENND3 | c.2202G>C (p.Met734Ile) c.1962G>C (p.Met654Ile) c.1806G>C (p.Met602Ile) c.1975G>C n.1743G>C c.2001G>C (p.Met667Ile) c.1845G>C (p.Met615Ile) c.1968G>C (p.Met656Ile) c.1458G>C (p.Met486Ile) c.1635G>C (p.Met545Ile) c.1629G>C (p.Met543Ile) c.1170G>C (p.Met390Ile) c.699G>C (p.Met233Ile) n.2131G>C n.2298G>C c.2046G>C (p.Met682Ile) c.738G>C (p.Met246Ile) n.2348G>C n.2321G>C | |
8 | g.141168452G>T | CA372344447 | DENND3 | c.2202G>T (p.Met734Ile) c.1962G>T (p.Met654Ile) c.1806G>T (p.Met602Ile) c.1975G>T n.1743G>T c.2001G>T (p.Met667Ile) c.1845G>T (p.Met615Ile) c.1968G>T (p.Met656Ile) c.1458G>T (p.Met486Ile) c.1635G>T (p.Met545Ile) c.1629G>T (p.Met543Ile) c.1170G>T (p.Met390Ile) c.699G>T (p.Met233Ile) n.2131G>T n.2298G>T c.2046G>T (p.Met682Ile) c.738G>T (p.Met246Ile) n.2348G>T n.2321G>T | |
8 | g.141168453A>C | CA372344448 | DENND3 | c.2203A>C (p.Lys735Gln) c.1963A>C (p.Lys655Gln) c.1807A>C (p.Lys603Gln) c.1976A>C n.1744A>C c.2002A>C (p.Lys668Gln) c.1846A>C (p.Lys616Gln) c.1969A>C (p.Lys657Gln) c.1459A>C (p.Lys487Gln) c.1636A>C (p.Lys546Gln) c.1630A>C (p.Lys544Gln) c.1171A>C (p.Lys391Gln) c.700A>C (p.Lys234Gln) n.2132A>C n.2299A>C c.2047A>C (p.Lys683Gln) c.739A>C (p.Lys247Gln) n.2349A>C n.2322A>C | |
8 | g.141168453A>G | CA372344449 | DENND3 | c.2203A>G (p.Lys735Glu) c.1963A>G (p.Lys655Glu) c.1807A>G (p.Lys603Glu) c.1976A>G n.1744A>G c.2002A>G (p.Lys668Glu) c.1846A>G (p.Lys616Glu) c.1969A>G (p.Lys657Glu) c.1459A>G (p.Lys487Glu) c.1636A>G (p.Lys546Glu) c.1630A>G (p.Lys544Glu) c.1171A>G (p.Lys391Glu) c.700A>G (p.Lys234Glu) n.2132A>G n.2299A>G c.2047A>G (p.Lys683Glu) c.739A>G (p.Lys247Glu) n.2349A>G n.2322A>G | gnomAD v4 |
8 | g.141168453A>T | CA372344450 | DENND3 | c.2203A>T (p.Lys735Ter) c.1963A>T (p.Lys655Ter) c.1807A>T (p.Lys603Ter) c.1976A>T n.1744A>T c.2002A>T (p.Lys668Ter) c.1846A>T (p.Lys616Ter) c.1969A>T (p.Lys657Ter) c.1459A>T (p.Lys487Ter) c.1636A>T (p.Lys546Ter) c.1630A>T (p.Lys544Ter) c.1171A>T (p.Lys391Ter) c.700A>T (p.Lys234Ter) n.2132A>T n.2299A>T c.2047A>T (p.Lys683Ter) c.739A>T (p.Lys247Ter) n.2349A>T n.2322A>T | |
8 | g.141168454A>C | CA372344452 | DENND3 | c.2204A>C (p.Lys735Thr) c.1964A>C (p.Lys655Thr) c.1808A>C (p.Lys603Thr) c.1977A>C n.1745A>C c.2003A>C (p.Lys668Thr) c.1847A>C (p.Lys616Thr) c.1970A>C (p.Lys657Thr) c.1460A>C (p.Lys487Thr) c.1637A>C (p.Lys546Thr) c.1631A>C (p.Lys544Thr) c.1172A>C (p.Lys391Thr) c.701A>C (p.Lys234Thr) n.2133A>C n.2300A>C c.2048A>C (p.Lys683Thr) c.740A>C (p.Lys247Thr) n.2350A>C n.2323A>C | |
8 | g.141168454A>G | CA372344453 | DENND3 | c.2204A>G (p.Lys735Arg) c.1964A>G (p.Lys655Arg) c.1808A>G (p.Lys603Arg) c.1977A>G n.1745A>G c.2003A>G (p.Lys668Arg) c.1847A>G (p.Lys616Arg) c.1970A>G (p.Lys657Arg) c.1460A>G (p.Lys487Arg) c.1637A>G (p.Lys546Arg) c.1631A>G (p.Lys544Arg) c.1172A>G (p.Lys391Arg) c.701A>G (p.Lys234Arg) n.2133A>G n.2300A>G c.2048A>G (p.Lys683Arg) c.740A>G (p.Lys247Arg) n.2350A>G n.2323A>G | |
8 | g.141168454A>T | CA372344451 | DENND3 | c.2204A>T (p.Lys735Met) c.1964A>T (p.Lys655Met) c.1808A>T (p.Lys603Met) c.1977A>T n.1745A>T c.2003A>T (p.Lys668Met) c.1847A>T (p.Lys616Met) c.1970A>T (p.Lys657Met) c.1460A>T (p.Lys487Met) c.1637A>T (p.Lys546Met) c.1631A>T (p.Lys544Met) c.1172A>T (p.Lys391Met) c.701A>T (p.Lys234Met) n.2133A>T n.2300A>T c.2048A>T (p.Lys683Met) c.740A>T (p.Lys247Met) n.2350A>T n.2323A>T | |
8 | g.141168455G>A | CA463497032 | DENND3 | c.2205G>A (p.Lys735=) c.1965G>A (p.Lys655=) c.1809G>A (p.Lys603=) c.1978G>A n.1746G>A c.2004G>A (p.Lys668=) c.1848G>A (p.Lys616=) c.1971G>A (p.Lys657=) c.1461G>A (p.Lys487=) c.1638G>A (p.Lys546=) c.1632G>A (p.Lys544=) c.1173G>A (p.Lys391=) c.702G>A (p.Lys234=) n.2134G>A n.2301G>A c.2049G>A (p.Lys683=) c.741G>A (p.Lys247=) n.2351G>A n.2324G>A | |
8 | g.141168455G>C | CA372344454 | DENND3 | c.2205G>C (p.Lys735Asn) c.1965G>C (p.Lys655Asn) c.1809G>C (p.Lys603Asn) c.1978G>C n.1746G>C c.2004G>C (p.Lys668Asn) c.1848G>C (p.Lys616Asn) c.1971G>C (p.Lys657Asn) c.1461G>C (p.Lys487Asn) c.1638G>C (p.Lys546Asn) c.1632G>C (p.Lys544Asn) c.1173G>C (p.Lys391Asn) c.702G>C (p.Lys234Asn) n.2134G>C n.2301G>C c.2049G>C (p.Lys683Asn) c.741G>C (p.Lys247Asn) n.2351G>C n.2324G>C | |
8 | g.141168455G>T | CA372344455 | DENND3 | c.2205G>T (p.Lys735Asn) c.1965G>T (p.Lys655Asn) c.1809G>T (p.Lys603Asn) c.1978G>T n.1746G>T c.2004G>T (p.Lys668Asn) c.1848G>T (p.Lys616Asn) c.1971G>T (p.Lys657Asn) c.1461G>T (p.Lys487Asn) c.1638G>T (p.Lys546Asn) c.1632G>T (p.Lys544Asn) c.1173G>T (p.Lys391Asn) c.702G>T (p.Lys234Asn) n.2134G>T n.2301G>T c.2049G>T (p.Lys683Asn) c.741G>T (p.Lys247Asn) n.2351G>T n.2324G>T | |
8 | g.141168456C>A | CA463497034 | DENND3 | c.2206C>A (p.Arg736=) c.1966C>A (p.Arg656=) c.1810C>A (p.Arg604=) c.1979C>A n.1747C>A c.2005C>A (p.Arg669=) c.1849C>A (p.Arg617=) c.1972C>A (p.Arg658=) c.1462C>A (p.Arg488=) c.1639C>A (p.Arg547=) c.1633C>A (p.Arg545=) c.1174C>A (p.Arg392=) c.703C>A (p.Arg235=) n.2135C>A n.2302C>A c.2050C>A (p.Arg684=) c.742C>A (p.Arg248=) n.2352C>A n.2325C>A | gnomAD v4 |
8 | g.141168456C>G | CA372344456 | DENND3 | c.2206C>G (p.Arg736Gly) c.1966C>G (p.Arg656Gly) c.1810C>G (p.Arg604Gly) c.1979C>G n.1747C>G c.2005C>G (p.Arg669Gly) c.1849C>G (p.Arg617Gly) c.1972C>G (p.Arg658Gly) c.1462C>G (p.Arg488Gly) c.1639C>G (p.Arg547Gly) c.1633C>G (p.Arg545Gly) c.1174C>G (p.Arg392Gly) c.703C>G (p.Arg235Gly) n.2135C>G n.2302C>G c.2050C>G (p.Arg684Gly) c.742C>G (p.Arg248Gly) n.2352C>G n.2325C>G | gnomAD v4 |
8 | g.141168456C>T | CA4896830 | DENND3 | c.2206C>T (p.Arg736Trp) c.1966C>T (p.Arg656Trp) c.1810C>T (p.Arg604Trp) c.1979C>T n.1747C>T c.2005C>T (p.Arg669Trp) c.1849C>T (p.Arg617Trp) c.1972C>T (p.Arg658Trp) c.1462C>T (p.Arg488Trp) c.1639C>T (p.Arg547Trp) c.1633C>T (p.Arg545Trp) c.1174C>T (p.Arg392Trp) c.703C>T (p.Arg235Trp) n.2135C>T n.2302C>T c.2050C>T (p.Arg684Trp) c.742C>T (p.Arg248Trp) n.2352C>T n.2325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168457G>A | CA187325866 | DENND3 | c.2207G>A (p.Arg736Gln) c.1967G>A (p.Arg656Gln) c.1811G>A (p.Arg604Gln) c.1980G>A n.1748G>A c.2006G>A (p.Arg669Gln) c.1850G>A (p.Arg617Gln) c.1973G>A (p.Arg658Gln) c.1463G>A (p.Arg488Gln) c.1640G>A (p.Arg547Gln) c.1634G>A (p.Arg545Gln) c.1175G>A (p.Arg392Gln) c.704G>A (p.Arg235Gln) n.2136G>A n.2303G>A c.2051G>A (p.Arg684Gln) c.743G>A (p.Arg248Gln) n.2353G>A n.2326G>A | dbSNP gnomAD v4 |
8 | g.141168457G>C | CA372344457 | DENND3 | c.2207G>C (p.Arg736Pro) c.1967G>C (p.Arg656Pro) c.1811G>C (p.Arg604Pro) c.1980G>C n.1748G>C c.2006G>C (p.Arg669Pro) c.1850G>C (p.Arg617Pro) c.1973G>C (p.Arg658Pro) c.1463G>C (p.Arg488Pro) c.1640G>C (p.Arg547Pro) c.1634G>C (p.Arg545Pro) c.1175G>C (p.Arg392Pro) c.704G>C (p.Arg235Pro) n.2136G>C n.2303G>C c.2051G>C (p.Arg684Pro) c.743G>C (p.Arg248Pro) n.2353G>C n.2326G>C | |
8 | g.141168457G>T | CA372344458 | DENND3 | c.2207G>T (p.Arg736Leu) c.1967G>T (p.Arg656Leu) c.1811G>T (p.Arg604Leu) c.1980G>T n.1748G>T c.2006G>T (p.Arg669Leu) c.1850G>T (p.Arg617Leu) c.1973G>T (p.Arg658Leu) c.1463G>T (p.Arg488Leu) c.1640G>T (p.Arg547Leu) c.1634G>T (p.Arg545Leu) c.1175G>T (p.Arg392Leu) c.704G>T (p.Arg235Leu) n.2136G>T n.2303G>T c.2051G>T (p.Arg684Leu) c.743G>T (p.Arg248Leu) n.2353G>T n.2326G>T | dbSNP |
8 | g.141168458G>A | CA463497035 | DENND3 | c.2208G>A (p.Arg736=) c.1968G>A (p.Arg656=) c.1812G>A (p.Arg604=) c.1981G>A n.1749G>A c.2007G>A (p.Arg669=) c.1851G>A (p.Arg617=) c.1974G>A (p.Arg658=) c.1464G>A (p.Arg488=) c.1641G>A (p.Arg547=) c.1635G>A (p.Arg545=) c.1176G>A (p.Arg392=) c.705G>A (p.Arg235=) n.2137G>A n.2304G>A c.2052G>A (p.Arg684=) c.744G>A (p.Arg248=) n.2354G>A n.2327G>A | |
8 | g.141168458G>C | CA463497036 | DENND3 | c.2208G>C (p.Arg736=) c.1968G>C (p.Arg656=) c.1812G>C (p.Arg604=) c.1981G>C n.1749G>C c.2007G>C (p.Arg669=) c.1851G>C (p.Arg617=) c.1974G>C (p.Arg658=) c.1464G>C (p.Arg488=) c.1641G>C (p.Arg547=) c.1635G>C (p.Arg545=) c.1176G>C (p.Arg392=) c.705G>C (p.Arg235=) n.2137G>C n.2304G>C c.2052G>C (p.Arg684=) c.744G>C (p.Arg248=) n.2354G>C n.2327G>C | |
8 | g.141168458G>T | CA463497038 | DENND3 | c.2208G>T (p.Arg736=) c.1968G>T (p.Arg656=) c.1812G>T (p.Arg604=) c.1981G>T n.1749G>T c.2007G>T (p.Arg669=) c.1851G>T (p.Arg617=) c.1974G>T (p.Arg658=) c.1464G>T (p.Arg488=) c.1641G>T (p.Arg547=) c.1635G>T (p.Arg545=) c.1176G>T (p.Arg392=) c.705G>T (p.Arg235=) n.2137G>T n.2304G>T c.2052G>T (p.Arg684=) c.744G>T (p.Arg248=) n.2354G>T n.2327G>T | |
8 | g.141168459G>A | CA372344459 | DENND3 | c.2209G>A (p.Val737Ile) c.1969G>A (p.Val657Ile) c.1813G>A (p.Val605Ile) c.1982G>A n.1750G>A c.2008G>A (p.Val670Ile) c.1852G>A (p.Val618Ile) c.1975G>A (p.Val659Ile) c.1465G>A (p.Val489Ile) c.1642G>A (p.Val548Ile) c.1636G>A (p.Val546Ile) c.1177G>A (p.Val393Ile) c.706G>A (p.Val236Ile) n.2138G>A n.2305G>A c.2053G>A (p.Val685Ile) c.745G>A (p.Val249Ile) n.2355G>A n.2328G>A | dbSNP gnomAD v4 |
8 | g.141168459G>C | CA372344460 | DENND3 | c.2209G>C (p.Val737Leu) c.1969G>C (p.Val657Leu) c.1813G>C (p.Val605Leu) c.1982G>C n.1750G>C c.2008G>C (p.Val670Leu) c.1852G>C (p.Val618Leu) c.1975G>C (p.Val659Leu) c.1465G>C (p.Val489Leu) c.1642G>C (p.Val548Leu) c.1636G>C (p.Val546Leu) c.1177G>C (p.Val393Leu) c.706G>C (p.Val236Leu) n.2138G>C n.2305G>C c.2053G>C (p.Val685Leu) c.745G>C (p.Val249Leu) n.2355G>C n.2328G>C | |
8 | g.141168459G>T | CA372344461 | DENND3 | c.2209G>T (p.Val737Phe) c.1969G>T (p.Val657Phe) c.1813G>T (p.Val605Phe) c.1982G>T n.1750G>T c.2008G>T (p.Val670Phe) c.1852G>T (p.Val618Phe) c.1975G>T (p.Val659Phe) c.1465G>T (p.Val489Phe) c.1642G>T (p.Val548Phe) c.1636G>T (p.Val546Phe) c.1177G>T (p.Val393Phe) c.706G>T (p.Val236Phe) n.2138G>T n.2305G>T c.2053G>T (p.Val685Phe) c.745G>T (p.Val249Phe) n.2355G>T n.2328G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168460T>A | CA372344462 | DENND3 | c.2210T>A (p.Val737Asp) c.1970T>A (p.Val657Asp) c.1814T>A (p.Val605Asp) c.1983T>A n.1751T>A c.2009T>A (p.Val670Asp) c.1853T>A (p.Val618Asp) c.1976T>A (p.Val659Asp) c.1466T>A (p.Val489Asp) c.1643T>A (p.Val548Asp) c.1637T>A (p.Val546Asp) c.1178T>A (p.Val393Asp) c.707T>A (p.Val236Asp) n.2139T>A n.2306T>A c.2054T>A (p.Val685Asp) c.746T>A (p.Val249Asp) n.2356T>A n.2329T>A | |
8 | g.141168460T>C | CA372344463 | DENND3 | c.2210T>C (p.Val737Ala) c.1970T>C (p.Val657Ala) c.1814T>C (p.Val605Ala) c.1983T>C n.1751T>C c.2009T>C (p.Val670Ala) c.1853T>C (p.Val618Ala) c.1976T>C (p.Val659Ala) c.1466T>C (p.Val489Ala) c.1643T>C (p.Val548Ala) c.1637T>C (p.Val546Ala) c.1178T>C (p.Val393Ala) c.707T>C (p.Val236Ala) n.2139T>C n.2306T>C c.2054T>C (p.Val685Ala) c.746T>C (p.Val249Ala) n.2356T>C n.2329T>C | gnomAD v4 |
8 | g.141168460T>G | CA372344464 | DENND3 | c.2210T>G (p.Val737Gly) c.1970T>G (p.Val657Gly) c.1814T>G (p.Val605Gly) c.1983T>G n.1751T>G c.2009T>G (p.Val670Gly) c.1853T>G (p.Val618Gly) c.1976T>G (p.Val659Gly) c.1466T>G (p.Val489Gly) c.1643T>G (p.Val548Gly) c.1637T>G (p.Val546Gly) c.1178T>G (p.Val393Gly) c.707T>G (p.Val236Gly) n.2139T>G n.2306T>G c.2054T>G (p.Val685Gly) c.746T>G (p.Val249Gly) n.2356T>G n.2329T>G | |
8 | g.141168461C>A | CA463497044 | DENND3 | c.2211C>A (p.Val737=) c.1971C>A (p.Val657=) c.1815C>A (p.Val605=) c.1984C>A n.1752C>A c.2010C>A (p.Val670=) c.1854C>A (p.Val618=) c.1977C>A (p.Val659=) c.1467C>A (p.Val489=) c.1644C>A (p.Val548=) c.1638C>A (p.Val546=) c.1179C>A (p.Val393=) c.708C>A (p.Val236=) n.2140C>A n.2307C>A c.2055C>A (p.Val685=) c.747C>A (p.Val249=) n.2357C>A n.2330C>A | |
8 | g.141168461C>G | CA463497045 | DENND3 | c.2211C>G (p.Val737=) c.1971C>G (p.Val657=) c.1815C>G (p.Val605=) c.1984C>G n.1752C>G c.2010C>G (p.Val670=) c.1854C>G (p.Val618=) c.1977C>G (p.Val659=) c.1467C>G (p.Val489=) c.1644C>G (p.Val548=) c.1638C>G (p.Val546=) c.1179C>G (p.Val393=) c.708C>G (p.Val236=) n.2140C>G n.2307C>G c.2055C>G (p.Val685=) c.747C>G (p.Val249=) n.2357C>G n.2330C>G | |
8 | g.141168461C>T | CA463497042 | DENND3 | c.2211C>T (p.Val737=) c.1971C>T (p.Val657=) c.1815C>T (p.Val605=) c.1984C>T n.1752C>T c.2010C>T (p.Val670=) c.1854C>T (p.Val618=) c.1977C>T (p.Val659=) c.1467C>T (p.Val489=) c.1644C>T (p.Val548=) c.1638C>T (p.Val546=) c.1179C>T (p.Val393=) c.708C>T (p.Val236=) n.2140C>T n.2307C>T c.2055C>T (p.Val685=) c.747C>T (p.Val249=) n.2357C>T n.2330C>T | |
8 | g.141168462C>A | CA372344467 | DENND3 | c.2212C>A (p.Gln738Lys) c.1972C>A (p.Gln658Lys) c.1816C>A (p.Gln606Lys) c.1985C>A n.1753C>A c.2011C>A (p.Gln671Lys) c.1855C>A (p.Gln619Lys) c.1978C>A (p.Gln660Lys) c.1468C>A (p.Gln490Lys) c.1645C>A (p.Gln549Lys) c.1639C>A (p.Gln547Lys) c.1180C>A (p.Gln394Lys) c.709C>A (p.Gln237Lys) n.2141C>A n.2308C>A c.2056C>A (p.Gln686Lys) c.748C>A (p.Gln250Lys) n.2358C>A n.2331C>A | |
8 | g.141168462C>G | CA372344465 | DENND3 | c.2212C>G (p.Gln738Glu) c.1972C>G (p.Gln658Glu) c.1816C>G (p.Gln606Glu) c.1985C>G n.1753C>G c.2011C>G (p.Gln671Glu) c.1855C>G (p.Gln619Glu) c.1978C>G (p.Gln660Glu) c.1468C>G (p.Gln490Glu) c.1645C>G (p.Gln549Glu) c.1639C>G (p.Gln547Glu) c.1180C>G (p.Gln394Glu) c.709C>G (p.Gln237Glu) n.2141C>G n.2308C>G c.2056C>G (p.Gln686Glu) c.748C>G (p.Gln250Glu) n.2358C>G n.2331C>G | |
8 | g.141168462C>T | CA372344466 | DENND3 | c.2212C>T (p.Gln738Ter) c.1972C>T (p.Gln658Ter) c.1816C>T (p.Gln606Ter) c.1985C>T n.1753C>T c.2011C>T (p.Gln671Ter) c.1855C>T (p.Gln619Ter) c.1978C>T (p.Gln660Ter) c.1468C>T (p.Gln490Ter) c.1645C>T (p.Gln549Ter) c.1639C>T (p.Gln547Ter) c.1180C>T (p.Gln394Ter) c.709C>T (p.Gln237Ter) n.2141C>T n.2308C>T c.2056C>T (p.Gln686Ter) c.748C>T (p.Gln250Ter) n.2358C>T n.2331C>T | |
8 | g.141168463A>C | CA372344468 | DENND3 | c.2213A>C (p.Gln738Pro) c.1973A>C (p.Gln658Pro) c.1817A>C (p.Gln606Pro) c.1986A>C n.1754A>C c.2012A>C (p.Gln671Pro) c.1856A>C (p.Gln619Pro) c.1979A>C (p.Gln660Pro) c.1469A>C (p.Gln490Pro) c.1646A>C (p.Gln549Pro) c.1640A>C (p.Gln547Pro) c.1181A>C (p.Gln394Pro) c.710A>C (p.Gln237Pro) n.2142A>C n.2309A>C c.2057A>C (p.Gln686Pro) c.749A>C (p.Gln250Pro) n.2359A>C n.2332A>C | gnomAD v4 |
8 | g.141168463A>G | CA372344470 | DENND3 | c.2213A>G (p.Gln738Arg) c.1973A>G (p.Gln658Arg) c.1817A>G (p.Gln606Arg) c.1986A>G n.1754A>G c.2012A>G (p.Gln671Arg) c.1856A>G (p.Gln619Arg) c.1979A>G (p.Gln660Arg) c.1469A>G (p.Gln490Arg) c.1646A>G (p.Gln549Arg) c.1640A>G (p.Gln547Arg) c.1181A>G (p.Gln394Arg) c.710A>G (p.Gln237Arg) n.2142A>G n.2309A>G c.2057A>G (p.Gln686Arg) c.749A>G (p.Gln250Arg) n.2359A>G n.2332A>G | |
8 | g.141168463A>T | CA372344477 | DENND3 | c.2213A>T (p.Gln738Leu) c.1973A>T (p.Gln658Leu) c.1817A>T (p.Gln606Leu) c.1986A>T n.1754A>T c.2012A>T (p.Gln671Leu) c.1856A>T (p.Gln619Leu) c.1979A>T (p.Gln660Leu) c.1469A>T (p.Gln490Leu) c.1646A>T (p.Gln549Leu) c.1640A>T (p.Gln547Leu) c.1181A>T (p.Gln394Leu) c.710A>T (p.Gln237Leu) n.2142A>T n.2309A>T c.2057A>T (p.Gln686Leu) c.749A>T (p.Gln250Leu) n.2359A>T n.2332A>T | |
8 | g.141168464G>A | CA463497049 | DENND3 | c.2214G>A (p.Gln738=) c.1974G>A (p.Gln658=) c.1818G>A (p.Gln606=) c.1987G>A n.1755G>A c.2013G>A (p.Gln671=) c.1857G>A (p.Gln619=) c.1980G>A (p.Gln660=) c.1470G>A (p.Gln490=) c.1647G>A (p.Gln549=) c.1641G>A (p.Gln547=) c.1182G>A (p.Gln394=) c.711G>A (p.Gln237=) n.2143G>A n.2310G>A c.2058G>A (p.Gln686=) c.750G>A (p.Gln250=) n.2360G>A n.2333G>A | gnomAD v4 |
8 | g.141168464G>C | CA372344479 | DENND3 | c.2214G>C (p.Gln738His) c.1974G>C (p.Gln658His) c.1818G>C (p.Gln606His) c.1987G>C n.1755G>C c.2013G>C (p.Gln671His) c.1857G>C (p.Gln619His) c.1980G>C (p.Gln660His) c.1470G>C (p.Gln490His) c.1647G>C (p.Gln549His) c.1641G>C (p.Gln547His) c.1182G>C (p.Gln394His) c.711G>C (p.Gln237His) n.2143G>C n.2310G>C c.2058G>C (p.Gln686His) c.750G>C (p.Gln250His) n.2360G>C n.2333G>C | |
8 | g.141168464G>T | CA372344481 | DENND3 | c.2214G>T (p.Gln738His) c.1974G>T (p.Gln658His) c.1818G>T (p.Gln606His) c.1987G>T n.1755G>T c.2013G>T (p.Gln671His) c.1857G>T (p.Gln619His) c.1980G>T (p.Gln660His) c.1470G>T (p.Gln490His) c.1647G>T (p.Gln549His) c.1641G>T (p.Gln547His) c.1182G>T (p.Gln394His) c.711G>T (p.Gln237His) n.2143G>T n.2310G>T c.2058G>T (p.Gln686His) c.750G>T (p.Gln250His) n.2360G>T n.2333G>T | |
8 | g.141168465G>A | CA372344483 | DENND3 | c.2215G>A (p.Glu739Lys) c.1975G>A (p.Glu659Lys) c.1819G>A (p.Glu607Lys) c.1988G>A n.1756G>A c.2014G>A (p.Glu672Lys) c.1858G>A (p.Glu620Lys) c.1981G>A (p.Glu661Lys) c.1471G>A (p.Glu491Lys) c.1648G>A (p.Glu550Lys) c.1642G>A (p.Glu548Lys) c.1183G>A (p.Glu395Lys) c.712G>A (p.Glu238Lys) n.2144G>A n.2311G>A c.2059G>A (p.Glu687Lys) c.751G>A (p.Glu251Lys) n.2361G>A n.2334G>A | |
8 | g.141168465G>C | CA372344485 | DENND3 | c.2215G>C (p.Glu739Gln) c.1975G>C (p.Glu659Gln) c.1819G>C (p.Glu607Gln) c.1988G>C n.1756G>C c.2014G>C (p.Glu672Gln) c.1858G>C (p.Glu620Gln) c.1981G>C (p.Glu661Gln) c.1471G>C (p.Glu491Gln) c.1648G>C (p.Glu550Gln) c.1642G>C (p.Glu548Gln) c.1183G>C (p.Glu395Gln) c.712G>C (p.Glu238Gln) n.2144G>C n.2311G>C c.2059G>C (p.Glu687Gln) c.751G>C (p.Glu251Gln) n.2361G>C n.2334G>C | |
8 | g.141168465G>T | CA372344487 | DENND3 | c.2215G>T (p.Glu739Ter) c.1975G>T (p.Glu659Ter) c.1819G>T (p.Glu607Ter) c.1988G>T n.1756G>T c.2014G>T (p.Glu672Ter) c.1858G>T (p.Glu620Ter) c.1981G>T (p.Glu661Ter) c.1471G>T (p.Glu491Ter) c.1648G>T (p.Glu550Ter) c.1642G>T (p.Glu548Ter) c.1183G>T (p.Glu395Ter) c.712G>T (p.Glu238Ter) n.2144G>T n.2311G>T c.2059G>T (p.Glu687Ter) c.751G>T (p.Glu251Ter) n.2361G>T n.2334G>T | |
8 | g.141168466A>C | CA372344489 | DENND3 | c.2216A>C (p.Glu739Ala) c.1976A>C (p.Glu659Ala) c.1820A>C (p.Glu607Ala) c.1989A>C n.1757A>C c.2015A>C (p.Glu672Ala) c.1859A>C (p.Glu620Ala) c.1982A>C (p.Glu661Ala) c.1472A>C (p.Glu491Ala) c.1649A>C (p.Glu550Ala) c.1643A>C (p.Glu548Ala) c.1184A>C (p.Glu395Ala) c.713A>C (p.Glu238Ala) n.2145A>C n.2312A>C c.2060A>C (p.Glu687Ala) c.752A>C (p.Glu251Ala) n.2362A>C n.2335A>C | |
8 | g.141168466A>G | CA372344491 | DENND3 | c.2216A>G (p.Glu739Gly) c.1976A>G (p.Glu659Gly) c.1820A>G (p.Glu607Gly) c.1989A>G n.1757A>G c.2015A>G (p.Glu672Gly) c.1859A>G (p.Glu620Gly) c.1982A>G (p.Glu661Gly) c.1472A>G (p.Glu491Gly) c.1649A>G (p.Glu550Gly) c.1643A>G (p.Glu548Gly) c.1184A>G (p.Glu395Gly) c.713A>G (p.Glu238Gly) n.2145A>G n.2312A>G c.2060A>G (p.Glu687Gly) c.752A>G (p.Glu251Gly) n.2362A>G n.2335A>G | |
8 | g.141168466A>T | CA372344493 | DENND3 | c.2216A>T (p.Glu739Val) c.1976A>T (p.Glu659Val) c.1820A>T (p.Glu607Val) c.1989A>T n.1757A>T c.2015A>T (p.Glu672Val) c.1859A>T (p.Glu620Val) c.1982A>T (p.Glu661Val) c.1472A>T (p.Glu491Val) c.1649A>T (p.Glu550Val) c.1643A>T (p.Glu548Val) c.1184A>T (p.Glu395Val) c.713A>T (p.Glu238Val) n.2145A>T n.2312A>T c.2060A>T (p.Glu687Val) c.752A>T (p.Glu251Val) n.2362A>T n.2335A>T | |
8 | g.141168467G>A | CA463497051 | DENND3 | c.2217G>A (p.Glu739=) c.1977G>A (p.Glu659=) c.1821G>A (p.Glu607=) c.1990G>A n.1758G>A c.2016G>A (p.Glu672=) c.1860G>A (p.Glu620=) c.1983G>A (p.Glu661=) c.1473G>A (p.Glu491=) c.1650G>A (p.Glu550=) c.1644G>A (p.Glu548=) c.1185G>A (p.Glu395=) c.714G>A (p.Glu238=) n.2146G>A n.2313G>A c.2061G>A (p.Glu687=) c.753G>A (p.Glu251=) n.2363G>A n.2336G>A | |
8 | g.141168467G>C | CA372344495 | DENND3 | c.2217G>C (p.Glu739Asp) c.1977G>C (p.Glu659Asp) c.1821G>C (p.Glu607Asp) c.1990G>C n.1758G>C c.2016G>C (p.Glu672Asp) c.1860G>C (p.Glu620Asp) c.1983G>C (p.Glu661Asp) c.1473G>C (p.Glu491Asp) c.1650G>C (p.Glu550Asp) c.1644G>C (p.Glu548Asp) c.1185G>C (p.Glu395Asp) c.714G>C (p.Glu238Asp) n.2146G>C n.2313G>C c.2061G>C (p.Glu687Asp) c.753G>C (p.Glu251Asp) n.2363G>C n.2336G>C | |
8 | g.141168467G>T | CA372344497 | DENND3 | c.2217G>T (p.Glu739Asp) c.1977G>T (p.Glu659Asp) c.1821G>T (p.Glu607Asp) c.1990G>T n.1758G>T c.2016G>T (p.Glu672Asp) c.1860G>T (p.Glu620Asp) c.1983G>T (p.Glu661Asp) c.1473G>T (p.Glu491Asp) c.1650G>T (p.Glu550Asp) c.1644G>T (p.Glu548Asp) c.1185G>T (p.Glu395Asp) c.714G>T (p.Glu238Asp) n.2146G>T n.2313G>T c.2061G>T (p.Glu687Asp) c.753G>T (p.Glu251Asp) n.2363G>T n.2336G>T | |
8 | g.141168468T>A | CA372344501 | DENND3 | c.2218T>A (p.Ser740Thr) c.1978T>A (p.Ser660Thr) c.1822T>A (p.Ser608Thr) c.1991T>A n.1759T>A c.2017T>A (p.Ser673Thr) c.1861T>A (p.Ser621Thr) c.1984T>A (p.Ser662Thr) c.1474T>A (p.Ser492Thr) c.1651T>A (p.Ser551Thr) c.1645T>A (p.Ser549Thr) c.1186T>A (p.Ser396Thr) c.715T>A (p.Ser239Thr) n.2147T>A n.2314T>A c.2062T>A (p.Ser688Thr) c.754T>A (p.Ser252Thr) n.2364T>A n.2337T>A | |
8 | g.141168468T>C | CA372344502 | DENND3 | c.2218T>C (p.Ser740Pro) c.1978T>C (p.Ser660Pro) c.1822T>C (p.Ser608Pro) c.1991T>C n.1759T>C c.2017T>C (p.Ser673Pro) c.1861T>C (p.Ser621Pro) c.1984T>C (p.Ser662Pro) c.1474T>C (p.Ser492Pro) c.1651T>C (p.Ser551Pro) c.1645T>C (p.Ser549Pro) c.1186T>C (p.Ser396Pro) c.715T>C (p.Ser239Pro) n.2147T>C n.2314T>C c.2062T>C (p.Ser688Pro) c.754T>C (p.Ser252Pro) n.2364T>C n.2337T>C | |
8 | g.141168468T>G | CA372344499 | DENND3 | c.2218T>G (p.Ser740Ala) c.1978T>G (p.Ser660Ala) c.1822T>G (p.Ser608Ala) c.1991T>G n.1759T>G c.2017T>G (p.Ser673Ala) c.1861T>G (p.Ser621Ala) c.1984T>G (p.Ser662Ala) c.1474T>G (p.Ser492Ala) c.1651T>G (p.Ser551Ala) c.1645T>G (p.Ser549Ala) c.1186T>G (p.Ser396Ala) c.715T>G (p.Ser239Ala) n.2147T>G n.2314T>G c.2062T>G (p.Ser688Ala) c.754T>G (p.Ser252Ala) n.2364T>G n.2337T>G | |
8 | g.141168469C>A | CA372344506 | DENND3 | c.2219C>A (p.Ser740Ter) c.1979C>A (p.Ser660Ter) c.1823C>A (p.Ser608Ter) c.1992C>A n.1760C>A c.2018C>A (p.Ser673Ter) c.1862C>A (p.Ser621Ter) c.1985C>A (p.Ser662Ter) c.1475C>A (p.Ser492Ter) c.1652C>A (p.Ser551Ter) c.1646C>A (p.Ser549Ter) c.1187C>A (p.Ser396Ter) c.716C>A (p.Ser239Ter) n.2148C>A n.2315C>A c.2063C>A (p.Ser688Ter) c.755C>A (p.Ser252Ter) n.2365C>A n.2338C>A | |
8 | g.141168469C>G | CA372344504 | DENND3 | c.2219C>G (p.Ser740Ter) c.1979C>G (p.Ser660Ter) c.1823C>G (p.Ser608Ter) c.1992C>G n.1760C>G c.2018C>G (p.Ser673Ter) c.1862C>G (p.Ser621Ter) c.1985C>G (p.Ser662Ter) c.1475C>G (p.Ser492Ter) c.1652C>G (p.Ser551Ter) c.1646C>G (p.Ser549Ter) c.1187C>G (p.Ser396Ter) c.716C>G (p.Ser239Ter) n.2148C>G n.2315C>G c.2063C>G (p.Ser688Ter) c.755C>G (p.Ser252Ter) n.2365C>G n.2338C>G | |
8 | g.141168469C>T | CA372344508 | DENND3 | c.2219C>T (p.Ser740Leu) c.1979C>T (p.Ser660Leu) c.1823C>T (p.Ser608Leu) c.1992C>T n.1760C>T c.2018C>T (p.Ser673Leu) c.1862C>T (p.Ser621Leu) c.1985C>T (p.Ser662Leu) c.1475C>T (p.Ser492Leu) c.1652C>T (p.Ser551Leu) c.1646C>T (p.Ser549Leu) c.1187C>T (p.Ser396Leu) c.716C>T (p.Ser239Leu) n.2148C>T n.2315C>T c.2063C>T (p.Ser688Leu) c.755C>T (p.Ser252Leu) n.2365C>T n.2338C>T | gnomAD v4 |
8 | g.141168470A>C | CA463497053 | DENND3 | c.2220A>C (p.Ser740=) c.1980A>C (p.Ser660=) c.1824A>C (p.Ser608=) c.1993A>C n.1761A>C c.2019A>C (p.Ser673=) c.1863A>C (p.Ser621=) c.1986A>C (p.Ser662=) c.1476A>C (p.Ser492=) c.1653A>C (p.Ser551=) c.1647A>C (p.Ser549=) c.1188A>C (p.Ser396=) c.717A>C (p.Ser239=) n.2149A>C n.2316A>C c.2064A>C (p.Ser688=) c.756A>C (p.Ser252=) n.2366A>C n.2339A>C | |
8 | g.141168470A>G | CA463497054 | DENND3 | c.2220A>G (p.Ser740=) c.1980A>G (p.Ser660=) c.1824A>G (p.Ser608=) c.1993A>G n.1761A>G c.2019A>G (p.Ser673=) c.1863A>G (p.Ser621=) c.1986A>G (p.Ser662=) c.1476A>G (p.Ser492=) c.1653A>G (p.Ser551=) c.1647A>G (p.Ser549=) c.1188A>G (p.Ser396=) c.717A>G (p.Ser239=) n.2149A>G n.2316A>G c.2064A>G (p.Ser688=) c.756A>G (p.Ser252=) n.2366A>G n.2339A>G | gnomAD v4 |
8 | g.141168470A>T | CA463497055 | DENND3 | c.2220A>T (p.Ser740=) c.1980A>T (p.Ser660=) c.1824A>T (p.Ser608=) c.1993A>T n.1761A>T c.2019A>T (p.Ser673=) c.1863A>T (p.Ser621=) c.1986A>T (p.Ser662=) c.1476A>T (p.Ser492=) c.1653A>T (p.Ser551=) c.1647A>T (p.Ser549=) c.1188A>T (p.Ser396=) c.717A>T (p.Ser239=) n.2149A>T n.2316A>T c.2064A>T (p.Ser688=) c.756A>T (p.Ser252=) n.2366A>T n.2339A>T | |
8 | g.141168471G>A | CA372344510 | DENND3 | c.2221G>A (p.Gly741Arg) c.1981G>A (p.Gly661Arg) c.1825G>A (p.Gly609Arg) c.1994G>A n.1762G>A c.2020G>A (p.Gly674Arg) c.1864G>A (p.Gly622Arg) c.1987G>A (p.Gly663Arg) c.1477G>A (p.Gly493Arg) c.1654G>A (p.Gly552Arg) c.1648G>A (p.Gly550Arg) c.1189G>A (p.Gly397Arg) c.718G>A (p.Gly240Arg) n.2150G>A n.2317G>A c.2065G>A (p.Gly689Arg) c.757G>A (p.Gly253Arg) n.2367G>A n.2340G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168471G>C | CA372344511 | DENND3 | c.2221G>C (p.Gly741Arg) c.1981G>C (p.Gly661Arg) c.1825G>C (p.Gly609Arg) c.1994G>C n.1762G>C c.2020G>C (p.Gly674Arg) c.1864G>C (p.Gly622Arg) c.1987G>C (p.Gly663Arg) c.1477G>C (p.Gly493Arg) c.1654G>C (p.Gly552Arg) c.1648G>C (p.Gly550Arg) c.1189G>C (p.Gly397Arg) c.718G>C (p.Gly240Arg) n.2150G>C n.2317G>C c.2065G>C (p.Gly689Arg) c.757G>C (p.Gly253Arg) n.2367G>C n.2340G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168471G>T | CA372344513 | DENND3 | c.2221G>T (p.Gly741Trp) c.1981G>T (p.Gly661Trp) c.1825G>T (p.Gly609Trp) c.1994G>T n.1762G>T c.2020G>T (p.Gly674Trp) c.1864G>T (p.Gly622Trp) c.1987G>T (p.Gly663Trp) c.1477G>T (p.Gly493Trp) c.1654G>T (p.Gly552Trp) c.1648G>T (p.Gly550Trp) c.1189G>T (p.Gly397Trp) c.718G>T (p.Gly240Trp) n.2150G>T n.2317G>T c.2065G>T (p.Gly689Trp) c.757G>T (p.Gly253Trp) n.2367G>T n.2340G>T | |
8 | g.141168472G>A | CA372344516 | DENND3 | c.2222G>A (p.Gly741Glu) c.1982G>A (p.Gly661Glu) c.1826G>A (p.Gly609Glu) c.1995G>A n.1763G>A c.2021G>A (p.Gly674Glu) c.1865G>A (p.Gly622Glu) c.1988G>A (p.Gly663Glu) c.1478G>A (p.Gly493Glu) c.1655G>A (p.Gly552Glu) c.1649G>A (p.Gly550Glu) c.1190G>A (p.Gly397Glu) c.719G>A (p.Gly240Glu) n.2151G>A n.2318G>A c.2066G>A (p.Gly689Glu) c.758G>A (p.Gly253Glu) n.2368G>A n.2341G>A | |
8 | g.141168472G>C | CA372344517 | DENND3 | c.2222G>C (p.Gly741Ala) c.1982G>C (p.Gly661Ala) c.1826G>C (p.Gly609Ala) c.1995G>C n.1763G>C c.2021G>C (p.Gly674Ala) c.1865G>C (p.Gly622Ala) c.1988G>C (p.Gly663Ala) c.1478G>C (p.Gly493Ala) c.1655G>C (p.Gly552Ala) c.1649G>C (p.Gly550Ala) c.1190G>C (p.Gly397Ala) c.719G>C (p.Gly240Ala) n.2151G>C n.2318G>C c.2066G>C (p.Gly689Ala) c.758G>C (p.Gly253Ala) n.2368G>C n.2341G>C | gnomAD v4 |
8 | g.141168472G>T | CA372344519 | DENND3 | c.2222G>T (p.Gly741Val) c.1982G>T (p.Gly661Val) c.1826G>T (p.Gly609Val) c.1995G>T n.1763G>T c.2021G>T (p.Gly674Val) c.1865G>T (p.Gly622Val) c.1988G>T (p.Gly663Val) c.1478G>T (p.Gly493Val) c.1655G>T (p.Gly552Val) c.1649G>T (p.Gly550Val) c.1190G>T (p.Gly397Val) c.719G>T (p.Gly240Val) n.2151G>T n.2318G>T c.2066G>T (p.Gly689Val) c.758G>T (p.Gly253Val) n.2368G>T n.2341G>T | |
8 | g.141168473G>A | CA463497059 | DENND3 | c.2223G>A (p.Gly741=) c.1983G>A (p.Gly661=) c.1827G>A (p.Gly609=) c.1996G>A n.1764G>A c.2022G>A (p.Gly674=) c.1866G>A (p.Gly622=) c.1989G>A (p.Gly663=) c.1479G>A (p.Gly493=) c.1656G>A (p.Gly552=) c.1650G>A (p.Gly550=) c.1191G>A (p.Gly397=) c.720G>A (p.Gly240=) n.2152G>A n.2319G>A c.2067G>A (p.Gly689=) c.759G>A (p.Gly253=) n.2369G>A n.2342G>A | |
8 | g.141168473G>C | CA463497060 | DENND3 | c.2223G>C (p.Gly741=) c.1983G>C (p.Gly661=) c.1827G>C (p.Gly609=) c.1996G>C n.1764G>C c.2022G>C (p.Gly674=) c.1866G>C (p.Gly622=) c.1989G>C (p.Gly663=) c.1479G>C (p.Gly493=) c.1656G>C (p.Gly552=) c.1650G>C (p.Gly550=) c.1191G>C (p.Gly397=) c.720G>C (p.Gly240=) n.2152G>C n.2319G>C c.2067G>C (p.Gly689=) c.759G>C (p.Gly253=) n.2369G>C n.2342G>C | |
8 | g.141168473G>T | CA463497061 | DENND3 | c.2223G>T (p.Gly741=) c.1983G>T (p.Gly661=) c.1827G>T (p.Gly609=) c.1996G>T n.1764G>T c.2022G>T (p.Gly674=) c.1866G>T (p.Gly622=) c.1989G>T (p.Gly663=) c.1479G>T (p.Gly493=) c.1656G>T (p.Gly552=) c.1650G>T (p.Gly550=) c.1191G>T (p.Gly397=) c.720G>T (p.Gly240=) n.2152G>T n.2319G>T c.2067G>T (p.Gly689=) c.759G>T (p.Gly253=) n.2369G>T n.2342G>T | |
8 | g.141168474A>C | CA372344522 | DENND3 | c.2224A>C (p.Ile742Leu) c.1984A>C (p.Ile662Leu) c.1828A>C (p.Ile610Leu) c.1997A>C n.1765A>C c.2023A>C (p.Ile675Leu) c.1867A>C (p.Ile623Leu) c.1990A>C (p.Ile664Leu) c.1480A>C (p.Ile494Leu) c.1657A>C (p.Ile553Leu) c.1651A>C (p.Ile551Leu) c.1192A>C (p.Ile398Leu) c.721A>C (p.Ile241Leu) n.2153A>C n.2320A>C c.2068A>C (p.Ile690Leu) c.760A>C (p.Ile254Leu) n.2370A>C n.2343A>C | |
8 | g.141168474A>G | CA372344523 | DENND3 | c.2224A>G (p.Ile742Val) c.1984A>G (p.Ile662Val) c.1828A>G (p.Ile610Val) c.1997A>G n.1765A>G c.2023A>G (p.Ile675Val) c.1867A>G (p.Ile623Val) c.1990A>G (p.Ile664Val) c.1480A>G (p.Ile494Val) c.1657A>G (p.Ile553Val) c.1651A>G (p.Ile551Val) c.1192A>G (p.Ile398Val) c.721A>G (p.Ile241Val) n.2153A>G n.2320A>G c.2068A>G (p.Ile690Val) c.760A>G (p.Ile254Val) n.2370A>G n.2343A>G | |
8 | g.141168474A>T | CA372344525 | DENND3 | c.2224A>T (p.Ile742Phe) c.1984A>T (p.Ile662Phe) c.1828A>T (p.Ile610Phe) c.1997A>T n.1765A>T c.2023A>T (p.Ile675Phe) c.1867A>T (p.Ile623Phe) c.1990A>T (p.Ile664Phe) c.1480A>T (p.Ile494Phe) c.1657A>T (p.Ile553Phe) c.1651A>T (p.Ile551Phe) c.1192A>T (p.Ile398Phe) c.721A>T (p.Ile241Phe) n.2153A>T n.2320A>T c.2068A>T (p.Ile690Phe) c.760A>T (p.Ile254Phe) n.2370A>T n.2343A>T | |
8 | g.141168475T>A | CA372344527 | DENND3 | c.2225T>A (p.Ile742Asn) c.1985T>A (p.Ile662Asn) c.1829T>A (p.Ile610Asn) c.1998T>A n.1766T>A c.2024T>A (p.Ile675Asn) c.1868T>A (p.Ile623Asn) c.1991T>A (p.Ile664Asn) c.1481T>A (p.Ile494Asn) c.1658T>A (p.Ile553Asn) c.1652T>A (p.Ile551Asn) c.1193T>A (p.Ile398Asn) c.722T>A (p.Ile241Asn) n.2154T>A n.2321T>A c.2069T>A (p.Ile690Asn) c.761T>A (p.Ile254Asn) n.2371T>A n.2344T>A | |
8 | g.141168475T>C | CA372344529 | DENND3 | c.2225T>C (p.Ile742Thr) c.1985T>C (p.Ile662Thr) c.1829T>C (p.Ile610Thr) c.1998T>C n.1766T>C c.2024T>C (p.Ile675Thr) c.1868T>C (p.Ile623Thr) c.1991T>C (p.Ile664Thr) c.1481T>C (p.Ile494Thr) c.1658T>C (p.Ile553Thr) c.1652T>C (p.Ile551Thr) c.1193T>C (p.Ile398Thr) c.722T>C (p.Ile241Thr) n.2154T>C n.2321T>C c.2069T>C (p.Ile690Thr) c.761T>C (p.Ile254Thr) n.2371T>C n.2344T>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168475T>G | CA372344531 | DENND3 | c.2225T>G (p.Ile742Ser) c.1985T>G (p.Ile662Ser) c.1829T>G (p.Ile610Ser) c.1998T>G n.1766T>G c.2024T>G (p.Ile675Ser) c.1868T>G (p.Ile623Ser) c.1991T>G (p.Ile664Ser) c.1481T>G (p.Ile494Ser) c.1658T>G (p.Ile553Ser) c.1652T>G (p.Ile551Ser) c.1193T>G (p.Ile398Ser) c.722T>G (p.Ile241Ser) n.2154T>G n.2321T>G c.2069T>G (p.Ile690Ser) c.761T>G (p.Ile254Ser) n.2371T>G n.2344T>G | |
8 | g.141168476C>A | CA463497065 | DENND3 | c.2226C>A (p.Ile742=) c.1986C>A (p.Ile662=) c.1830C>A (p.Ile610=) c.1999C>A n.1767C>A c.2025C>A (p.Ile675=) c.1869C>A (p.Ile623=) c.1992C>A (p.Ile664=) c.1482C>A (p.Ile494=) c.1659C>A (p.Ile553=) c.1653C>A (p.Ile551=) c.1194C>A (p.Ile398=) c.723C>A (p.Ile241=) n.2155C>A n.2322C>A c.2070C>A (p.Ile690=) c.762C>A (p.Ile254=) n.2372C>A n.2345C>A | gnomAD v4 |
8 | g.141168476C>G | CA372344533 | DENND3 | c.2226C>G (p.Ile742Met) c.1986C>G (p.Ile662Met) c.1830C>G (p.Ile610Met) c.1999C>G n.1767C>G c.2025C>G (p.Ile675Met) c.1869C>G (p.Ile623Met) c.1992C>G (p.Ile664Met) c.1482C>G (p.Ile494Met) c.1659C>G (p.Ile553Met) c.1653C>G (p.Ile551Met) c.1194C>G (p.Ile398Met) c.723C>G (p.Ile241Met) n.2155C>G n.2322C>G c.2070C>G (p.Ile690Met) c.762C>G (p.Ile254Met) n.2372C>G n.2345C>G | gnomAD v4 |
8 | g.141168476C>T | CA4896831 | DENND3 | c.2226C>T (p.Ile742=) c.1986C>T (p.Ile662=) c.1830C>T (p.Ile610=) c.1999C>T n.1767C>T c.2025C>T (p.Ile675=) c.1869C>T (p.Ile623=) c.1992C>T (p.Ile664=) c.1482C>T (p.Ile494=) c.1659C>T (p.Ile553=) c.1653C>T (p.Ile551=) c.1194C>T (p.Ile398=) c.723C>T (p.Ile241=) n.2155C>T n.2322C>T c.2070C>T (p.Ile690=) c.762C>T (p.Ile254=) n.2372C>T n.2345C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168477G>A | CA4896832 | DENND3 | c.2227G>A (p.Val743Met) c.1987G>A (p.Val663Met) c.1831G>A (p.Val611Met) c.2000G>A n.1768G>A c.2026G>A (p.Val676Met) c.1870G>A (p.Val624Met) c.1993G>A (p.Val665Met) c.1483G>A (p.Val495Met) c.1660G>A (p.Val554Met) c.1654G>A (p.Val552Met) c.1195G>A (p.Val399Met) c.724G>A (p.Val242Met) n.2156G>A n.2323G>A c.2071G>A (p.Val691Met) c.763G>A (p.Val255Met) n.2373G>A n.2346G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168477G>C | CA372344538 | DENND3 | c.2227G>C (p.Val743Leu) c.1987G>C (p.Val663Leu) c.1831G>C (p.Val611Leu) c.2000G>C n.1768G>C c.2026G>C (p.Val676Leu) c.1870G>C (p.Val624Leu) c.1993G>C (p.Val665Leu) c.1483G>C (p.Val495Leu) c.1660G>C (p.Val554Leu) c.1654G>C (p.Val552Leu) c.1195G>C (p.Val399Leu) c.724G>C (p.Val242Leu) n.2156G>C n.2323G>C c.2071G>C (p.Val691Leu) c.763G>C (p.Val255Leu) n.2373G>C n.2346G>C | |
8 | g.141168477G>T | CA372344537 | DENND3 | c.2227G>T (p.Val743Leu) c.1987G>T (p.Val663Leu) c.1831G>T (p.Val611Leu) c.2000G>T n.1768G>T c.2026G>T (p.Val676Leu) c.1870G>T (p.Val624Leu) c.1993G>T (p.Val665Leu) c.1483G>T (p.Val495Leu) c.1660G>T (p.Val554Leu) c.1654G>T (p.Val552Leu) c.1195G>T (p.Val399Leu) c.724G>T (p.Val242Leu) n.2156G>T n.2323G>T c.2071G>T (p.Val691Leu) c.763G>T (p.Val255Leu) n.2373G>T n.2346G>T | dbSNP gnomAD v4 |
8 | g.141168478T>A | CA372344542 | DENND3 | c.2228T>A (p.Val743Glu) c.1988T>A (p.Val663Glu) c.1832T>A (p.Val611Glu) c.2001T>A n.1769T>A c.2027T>A (p.Val676Glu) c.1871T>A (p.Val624Glu) c.1994T>A (p.Val665Glu) c.1484T>A (p.Val495Glu) c.1661T>A (p.Val554Glu) c.1655T>A (p.Val552Glu) c.1196T>A (p.Val399Glu) c.725T>A (p.Val242Glu) n.2157T>A n.2324T>A c.2072T>A (p.Val691Glu) c.764T>A (p.Val255Glu) n.2374T>A n.2347T>A | |
8 | g.141168478T>C | CA372344543 | DENND3 | c.2228T>C (p.Val743Ala) c.1988T>C (p.Val663Ala) c.1832T>C (p.Val611Ala) c.2001T>C n.1769T>C c.2027T>C (p.Val676Ala) c.1871T>C (p.Val624Ala) c.1994T>C (p.Val665Ala) c.1484T>C (p.Val495Ala) c.1661T>C (p.Val554Ala) c.1655T>C (p.Val552Ala) c.1196T>C (p.Val399Ala) c.725T>C (p.Val242Ala) n.2157T>C n.2324T>C c.2072T>C (p.Val691Ala) c.764T>C (p.Val255Ala) n.2374T>C n.2347T>C | |
8 | g.141168478T>G | CA187325869 | DENND3 | c.2228T>G (p.Val743Gly) c.1988T>G (p.Val663Gly) c.1832T>G (p.Val611Gly) c.2001T>G n.1769T>G c.2027T>G (p.Val676Gly) c.1871T>G (p.Val624Gly) c.1994T>G (p.Val665Gly) c.1484T>G (p.Val495Gly) c.1661T>G (p.Val554Gly) c.1655T>G (p.Val552Gly) c.1196T>G (p.Val399Gly) c.725T>G (p.Val242Gly) n.2157T>G n.2324T>G c.2072T>G (p.Val691Gly) c.764T>G (p.Val255Gly) n.2374T>G n.2347T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168479G>A | CA463497069 | DENND3 | c.2229G>A (p.Val743=) c.1989G>A (p.Val663=) c.1833G>A (p.Val611=) c.2002G>A n.1770G>A c.2028G>A (p.Val676=) c.1872G>A (p.Val624=) c.1995G>A (p.Val665=) c.1485G>A (p.Val495=) c.1662G>A (p.Val554=) c.1656G>A (p.Val552=) c.1197G>A (p.Val399=) c.726G>A (p.Val242=) n.2158G>A n.2325G>A c.2073G>A (p.Val691=) c.765G>A (p.Val255=) n.2375G>A n.2348G>A | dbSNP |
8 | g.141168479G>C | CA463497070 | DENND3 | c.2229G>C (p.Val743=) c.1989G>C (p.Val663=) c.1833G>C (p.Val611=) c.2002G>C n.1770G>C c.2028G>C (p.Val676=) c.1872G>C (p.Val624=) c.1995G>C (p.Val665=) c.1485G>C (p.Val495=) c.1662G>C (p.Val554=) c.1656G>C (p.Val552=) c.1197G>C (p.Val399=) c.726G>C (p.Val242=) n.2158G>C n.2325G>C c.2073G>C (p.Val691=) c.765G>C (p.Val255=) n.2375G>C n.2348G>C | |
8 | g.141168479G>T | CA463497071 | DENND3 | c.2229G>T (p.Val743=) c.1989G>T (p.Val663=) c.1833G>T (p.Val611=) c.2002G>T n.1770G>T c.2028G>T (p.Val676=) c.1872G>T (p.Val624=) c.1995G>T (p.Val665=) c.1485G>T (p.Val495=) c.1662G>T (p.Val554=) c.1656G>T (p.Val552=) c.1197G>T (p.Val399=) c.726G>T (p.Val242=) n.2158G>T n.2325G>T c.2073G>T (p.Val691=) c.765G>T (p.Val255=) n.2375G>T n.2348G>T | |
8 | g.141168480A>C | CA372344547 | DENND3 | c.2230A>C (p.Lys744Gln) c.1990A>C (p.Lys664Gln) c.1834A>C (p.Lys612Gln) c.2003A>C n.1771A>C c.2029A>C (p.Lys677Gln) c.1873A>C (p.Lys625Gln) c.1996A>C (p.Lys666Gln) c.1486A>C (p.Lys496Gln) c.1663A>C (p.Lys555Gln) c.1657A>C (p.Lys553Gln) c.1198A>C (p.Lys400Gln) c.727A>C (p.Lys243Gln) n.2159A>C n.2326A>C c.2074A>C (p.Lys692Gln) c.766A>C (p.Lys256Gln) n.2376A>C n.2349A>C | |
8 | g.141168480A>G | CA372344548 | DENND3 | c.2230A>G (p.Lys744Glu) c.1990A>G (p.Lys664Glu) c.1834A>G (p.Lys612Glu) c.2003A>G n.1771A>G c.2029A>G (p.Lys677Glu) c.1873A>G (p.Lys625Glu) c.1996A>G (p.Lys666Glu) c.1486A>G (p.Lys496Glu) c.1663A>G (p.Lys555Glu) c.1657A>G (p.Lys553Glu) c.1198A>G (p.Lys400Glu) c.727A>G (p.Lys243Glu) n.2159A>G n.2326A>G c.2074A>G (p.Lys692Glu) c.766A>G (p.Lys256Glu) n.2376A>G n.2349A>G | |
8 | g.141168480A>T | CA372344550 | DENND3 | c.2230A>T (p.Lys744Ter) c.1990A>T (p.Lys664Ter) c.1834A>T (p.Lys612Ter) c.2003A>T n.1771A>T c.2029A>T (p.Lys677Ter) c.1873A>T (p.Lys625Ter) c.1996A>T (p.Lys666Ter) c.1486A>T (p.Lys496Ter) c.1663A>T (p.Lys555Ter) c.1657A>T (p.Lys553Ter) c.1198A>T (p.Lys400Ter) c.727A>T (p.Lys243Ter) n.2159A>T n.2326A>T c.2074A>T (p.Lys692Ter) c.766A>T (p.Lys256Ter) n.2376A>T n.2349A>T | |
8 | g.141168481A>C | CA372344552 | DENND3 | c.2231A>C (p.Lys744Thr) c.1991A>C (p.Lys664Thr) c.1835A>C (p.Lys612Thr) c.2004A>C n.1772A>C c.2030A>C (p.Lys677Thr) c.1874A>C (p.Lys625Thr) c.1997A>C (p.Lys666Thr) c.1487A>C (p.Lys496Thr) c.1664A>C (p.Lys555Thr) c.1658A>C (p.Lys553Thr) c.1199A>C (p.Lys400Thr) c.728A>C (p.Lys243Thr) n.2160A>C n.2327A>C c.2075A>C (p.Lys692Thr) c.767A>C (p.Lys256Thr) n.2377A>C n.2350A>C | |
8 | g.141168481A>G | CA372344553 | DENND3 | c.2231A>G (p.Lys744Arg) c.1991A>G (p.Lys664Arg) c.1835A>G (p.Lys612Arg) c.2004A>G n.1772A>G c.2030A>G (p.Lys677Arg) c.1874A>G (p.Lys625Arg) c.1997A>G (p.Lys666Arg) c.1487A>G (p.Lys496Arg) c.1664A>G (p.Lys555Arg) c.1658A>G (p.Lys553Arg) c.1199A>G (p.Lys400Arg) c.728A>G (p.Lys243Arg) n.2160A>G n.2327A>G c.2075A>G (p.Lys692Arg) c.767A>G (p.Lys256Arg) n.2377A>G n.2350A>G | |
8 | g.141168481A>T | CA372344554 | DENND3 | c.2231A>T (p.Lys744Met) c.1991A>T (p.Lys664Met) c.1835A>T (p.Lys612Met) c.2004A>T n.1772A>T c.2030A>T (p.Lys677Met) c.1874A>T (p.Lys625Met) c.1997A>T (p.Lys666Met) c.1487A>T (p.Lys496Met) c.1664A>T (p.Lys555Met) c.1658A>T (p.Lys553Met) c.1199A>T (p.Lys400Met) c.728A>T (p.Lys243Met) n.2160A>T n.2327A>T c.2075A>T (p.Lys692Met) c.767A>T (p.Lys256Met) n.2377A>T n.2350A>T | |
8 | g.141168482G>A | CA463497075 | DENND3 | c.2232G>A (p.Lys744=) c.1992G>A (p.Lys664=) c.1836G>A (p.Lys612=) c.2005G>A n.1773G>A c.2031G>A (p.Lys677=) c.1875G>A (p.Lys625=) c.1998G>A (p.Lys666=) c.1488G>A (p.Lys496=) c.1665G>A (p.Lys555=) c.1659G>A (p.Lys553=) c.1200G>A (p.Lys400=) c.729G>A (p.Lys243=) n.2161G>A n.2328G>A c.2076G>A (p.Lys692=) c.768G>A (p.Lys256=) n.2378G>A n.2351G>A | |
8 | g.141168482G>C | CA372344556 | DENND3 | c.2232G>C (p.Lys744Asn) c.1992G>C (p.Lys664Asn) c.1836G>C (p.Lys612Asn) c.2005G>C n.1773G>C c.2031G>C (p.Lys677Asn) c.1875G>C (p.Lys625Asn) c.1998G>C (p.Lys666Asn) c.1488G>C (p.Lys496Asn) c.1665G>C (p.Lys555Asn) c.1659G>C (p.Lys553Asn) c.1200G>C (p.Lys400Asn) c.729G>C (p.Lys243Asn) n.2161G>C n.2328G>C c.2076G>C (p.Lys692Asn) c.768G>C (p.Lys256Asn) n.2378G>C n.2351G>C | gnomAD v4 |
8 | g.141168482G>T | CA372344557 | DENND3 | c.2232G>T (p.Lys744Asn) c.1992G>T (p.Lys664Asn) c.1836G>T (p.Lys612Asn) c.2005G>T n.1773G>T c.2031G>T (p.Lys677Asn) c.1875G>T (p.Lys625Asn) c.1998G>T (p.Lys666Asn) c.1488G>T (p.Lys496Asn) c.1665G>T (p.Lys555Asn) c.1659G>T (p.Lys553Asn) c.1200G>T (p.Lys400Asn) c.729G>T (p.Lys243Asn) n.2161G>T n.2328G>T c.2076G>T (p.Lys692Asn) c.768G>T (p.Lys256Asn) n.2378G>T n.2351G>T | |
8 | g.141168483G>A | CA372344559 | DENND3 | c.2233G>A (p.Asp745Asn) c.1993G>A (p.Asp665Asn) c.1837G>A (p.Asp613Asn) c.2006G>A n.1774G>A c.2032G>A (p.Asp678Asn) c.1876G>A (p.Asp626Asn) c.1999G>A (p.Asp667Asn) c.1489G>A (p.Asp497Asn) c.1666G>A (p.Asp556Asn) c.1660G>A (p.Asp554Asn) c.1201G>A (p.Asp401Asn) c.730G>A (p.Asp244Asn) n.2162G>A n.2329G>A c.2077G>A (p.Asp693Asn) c.769G>A (p.Asp257Asn) n.2379G>A n.2352G>A | dbSNP |
8 | g.141168483G>C | CA372344561 | DENND3 | c.2233G>C (p.Asp745His) c.1993G>C (p.Asp665His) c.1837G>C (p.Asp613His) c.2006G>C n.1774G>C c.2032G>C (p.Asp678His) c.1876G>C (p.Asp626His) c.1999G>C (p.Asp667His) c.1489G>C (p.Asp497His) c.1666G>C (p.Asp556His) c.1660G>C (p.Asp554His) c.1201G>C (p.Asp401His) c.730G>C (p.Asp244His) n.2162G>C n.2329G>C c.2077G>C (p.Asp693His) c.769G>C (p.Asp257His) n.2379G>C n.2352G>C | |
8 | g.141168483G>T | CA372344563 | DENND3 | c.2233G>T (p.Asp745Tyr) c.1993G>T (p.Asp665Tyr) c.1837G>T (p.Asp613Tyr) c.2006G>T n.1774G>T c.2032G>T (p.Asp678Tyr) c.1876G>T (p.Asp626Tyr) c.1999G>T (p.Asp667Tyr) c.1489G>T (p.Asp497Tyr) c.1666G>T (p.Asp556Tyr) c.1660G>T (p.Asp554Tyr) c.1201G>T (p.Asp401Tyr) c.730G>T (p.Asp244Tyr) n.2162G>T n.2329G>T c.2077G>T (p.Asp693Tyr) c.769G>T (p.Asp257Tyr) n.2379G>T n.2352G>T | |
8 | g.141168484A>C | CA372344567 | DENND3 | c.2234A>C (p.Asp745Ala) c.1994A>C (p.Asp665Ala) c.1838A>C (p.Asp613Ala) c.2007A>C n.1775A>C c.2033A>C (p.Asp678Ala) c.1877A>C (p.Asp626Ala) c.2000A>C (p.Asp667Ala) c.1490A>C (p.Asp497Ala) c.1667A>C (p.Asp556Ala) c.1661A>C (p.Asp554Ala) c.1202A>C (p.Asp401Ala) c.731A>C (p.Asp244Ala) n.2163A>C n.2330A>C c.2078A>C (p.Asp693Ala) c.770A>C (p.Asp257Ala) n.2380A>C n.2353A>C | |
8 | g.141168484A>G | CA372344568 | DENND3 | c.2234A>G (p.Asp745Gly) c.1994A>G (p.Asp665Gly) c.1838A>G (p.Asp613Gly) c.2007A>G n.1775A>G c.2033A>G (p.Asp678Gly) c.1877A>G (p.Asp626Gly) c.2000A>G (p.Asp667Gly) c.1490A>G (p.Asp497Gly) c.1667A>G (p.Asp556Gly) c.1661A>G (p.Asp554Gly) c.1202A>G (p.Asp401Gly) c.731A>G (p.Asp244Gly) n.2163A>G n.2330A>G c.2078A>G (p.Asp693Gly) c.770A>G (p.Asp257Gly) n.2380A>G n.2353A>G | |
8 | g.141168484A>T | CA372344566 | DENND3 | c.2234A>T (p.Asp745Val) c.1994A>T (p.Asp665Val) c.1838A>T (p.Asp613Val) c.2007A>T n.1775A>T c.2033A>T (p.Asp678Val) c.1877A>T (p.Asp626Val) c.2000A>T (p.Asp667Val) c.1490A>T (p.Asp497Val) c.1667A>T (p.Asp556Val) c.1661A>T (p.Asp554Val) c.1202A>T (p.Asp401Val) c.731A>T (p.Asp244Val) n.2163A>T n.2330A>T c.2078A>T (p.Asp693Val) c.770A>T (p.Asp257Val) n.2380A>T n.2353A>T | |
8 | g.141168485C>A | CA372344569 | DENND3 | c.2235C>A (p.Asp745Glu) c.1995C>A (p.Asp665Glu) c.1839C>A (p.Asp613Glu) c.2008C>A n.1776C>A c.2034C>A (p.Asp678Glu) c.1878C>A (p.Asp626Glu) c.2001C>A (p.Asp667Glu) c.1491C>A (p.Asp497Glu) c.1668C>A (p.Asp556Glu) c.1662C>A (p.Asp554Glu) c.1203C>A (p.Asp401Glu) c.732C>A (p.Asp244Glu) n.2164C>A n.2331C>A c.2079C>A (p.Asp693Glu) c.771C>A (p.Asp257Glu) n.2381C>A n.2354C>A | |
8 | g.141168485C>G | CA4896834 | DENND3 | c.2235C>G (p.Asp745Glu) c.1995C>G (p.Asp665Glu) c.1839C>G (p.Asp613Glu) c.2008C>G n.1776C>G c.2034C>G (p.Asp678Glu) c.1878C>G (p.Asp626Glu) c.2001C>G (p.Asp667Glu) c.1491C>G (p.Asp497Glu) c.1668C>G (p.Asp556Glu) c.1662C>G (p.Asp554Glu) c.1203C>G (p.Asp401Glu) c.732C>G (p.Asp244Glu) n.2164C>G n.2331C>G c.2079C>G (p.Asp693Glu) c.771C>G (p.Asp257Glu) n.2381C>G n.2354C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168485C>T | CA4896833 | DENND3 | c.2235C>T (p.Asp745=) c.1995C>T (p.Asp665=) c.1839C>T (p.Asp613=) c.2008C>T n.1776C>T c.2034C>T (p.Asp678=) c.1878C>T (p.Asp626=) c.2001C>T (p.Asp667=) c.1491C>T (p.Asp497=) c.1668C>T (p.Asp556=) c.1662C>T (p.Asp554=) c.1203C>T (p.Asp401=) c.732C>T (p.Asp244=) n.2164C>T n.2331C>T c.2079C>T (p.Asp693=) c.771C>T (p.Asp257=) n.2381C>T n.2354C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |