Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.141168237C>A | CA372343964 | DENND3 | c.1987C>A (p.Leu663Met) c.1747C>A (p.Leu583Met) c.1591C>A (p.Leu531Met) c.1760C>A n.1528C>A c.1786C>A (p.Leu596Met) c.1630C>A (p.Leu544Met) c.1753C>A (p.Leu585Met) c.1243C>A (p.Leu415Met) c.1420C>A (p.Leu474Met) c.1414C>A (p.Leu472Met) c.955C>A (p.Leu319Met) c.484C>A (p.Leu162Met) n.1916C>A n.2083C>A c.1831C>A (p.Leu611Met) c.523C>A (p.Leu175Met) n.2133C>A n.2106C>A | |
8 | g.141168237C>G | CA372343965 | DENND3 | c.1987C>G (p.Leu663Val) c.1747C>G (p.Leu583Val) c.1591C>G (p.Leu531Val) c.1760C>G n.1528C>G c.1786C>G (p.Leu596Val) c.1630C>G (p.Leu544Val) c.1753C>G (p.Leu585Val) c.1243C>G (p.Leu415Val) c.1420C>G (p.Leu474Val) c.1414C>G (p.Leu472Val) c.955C>G (p.Leu319Val) c.484C>G (p.Leu162Val) n.1916C>G n.2083C>G c.1831C>G (p.Leu611Val) c.523C>G (p.Leu175Val) n.2133C>G n.2106C>G | |
8 | g.141168237C>T | CA463493647 | DENND3 | c.1987C>T (p.Leu663=) c.1747C>T (p.Leu583=) c.1591C>T (p.Leu531=) c.1760C>T n.1528C>T c.1786C>T (p.Leu596=) c.1630C>T (p.Leu544=) c.1753C>T (p.Leu585=) c.1243C>T (p.Leu415=) c.1420C>T (p.Leu474=) c.1414C>T (p.Leu472=) c.955C>T (p.Leu319=) c.484C>T (p.Leu162=) n.1916C>T n.2083C>T c.1831C>T (p.Leu611=) c.523C>T (p.Leu175=) n.2133C>T n.2106C>T | gnomAD v4 |
8 | g.141168238T>A | CA372343966 | DENND3 | c.1988T>A (p.Leu663Gln) c.1748T>A (p.Leu583Gln) c.1592T>A (p.Leu531Gln) c.1761T>A n.1529T>A c.1787T>A (p.Leu596Gln) c.1631T>A (p.Leu544Gln) c.1754T>A (p.Leu585Gln) c.1244T>A (p.Leu415Gln) c.1421T>A (p.Leu474Gln) c.1415T>A (p.Leu472Gln) c.956T>A (p.Leu319Gln) c.485T>A (p.Leu162Gln) n.1917T>A n.2084T>A c.1832T>A (p.Leu611Gln) c.524T>A (p.Leu175Gln) n.2134T>A n.2107T>A | |
8 | g.141168238T>C | CA372343967 | DENND3 | c.1988T>C (p.Leu663Pro) c.1748T>C (p.Leu583Pro) c.1592T>C (p.Leu531Pro) c.1761T>C n.1529T>C c.1787T>C (p.Leu596Pro) c.1631T>C (p.Leu544Pro) c.1754T>C (p.Leu585Pro) c.1244T>C (p.Leu415Pro) c.1421T>C (p.Leu474Pro) c.1415T>C (p.Leu472Pro) c.956T>C (p.Leu319Pro) c.485T>C (p.Leu162Pro) n.1917T>C n.2084T>C c.1832T>C (p.Leu611Pro) c.524T>C (p.Leu175Pro) n.2134T>C n.2107T>C | |
8 | g.141168238T>G | CA372343968 | DENND3 | c.1988T>G (p.Leu663Arg) c.1748T>G (p.Leu583Arg) c.1592T>G (p.Leu531Arg) c.1761T>G n.1529T>G c.1787T>G (p.Leu596Arg) c.1631T>G (p.Leu544Arg) c.1754T>G (p.Leu585Arg) c.1244T>G (p.Leu415Arg) c.1421T>G (p.Leu474Arg) c.1415T>G (p.Leu472Arg) c.956T>G (p.Leu319Arg) c.485T>G (p.Leu162Arg) n.1917T>G n.2084T>G c.1832T>G (p.Leu611Arg) c.524T>G (p.Leu175Arg) n.2134T>G n.2107T>G | |
8 | g.141168239G>A | CA463493652 | DENND3 | c.1989G>A (p.Leu663=) c.1749G>A (p.Leu583=) c.1593G>A (p.Leu531=) c.1762G>A n.1530G>A c.1788G>A (p.Leu596=) c.1632G>A (p.Leu544=) c.1755G>A (p.Leu585=) c.1245G>A (p.Leu415=) c.1422G>A (p.Leu474=) c.1416G>A (p.Leu472=) c.957G>A (p.Leu319=) c.486G>A (p.Leu162=) n.1918G>A n.2085G>A c.1833G>A (p.Leu611=) c.525G>A (p.Leu175=) n.2135G>A n.2108G>A | |
8 | g.141168239G>C | CA463493653 | DENND3 | c.1989G>C (p.Leu663=) c.1749G>C (p.Leu583=) c.1593G>C (p.Leu531=) c.1762G>C n.1530G>C c.1788G>C (p.Leu596=) c.1632G>C (p.Leu544=) c.1755G>C (p.Leu585=) c.1245G>C (p.Leu415=) c.1422G>C (p.Leu474=) c.1416G>C (p.Leu472=) c.957G>C (p.Leu319=) c.486G>C (p.Leu162=) n.1918G>C n.2085G>C c.1833G>C (p.Leu611=) c.525G>C (p.Leu175=) n.2135G>C n.2108G>C | |
8 | g.141168239G>T | CA463493655 | DENND3 | c.1989G>T (p.Leu663=) c.1749G>T (p.Leu583=) c.1593G>T (p.Leu531=) c.1762G>T n.1530G>T c.1788G>T (p.Leu596=) c.1632G>T (p.Leu544=) c.1755G>T (p.Leu585=) c.1245G>T (p.Leu415=) c.1422G>T (p.Leu474=) c.1416G>T (p.Leu472=) c.957G>T (p.Leu319=) c.486G>T (p.Leu162=) n.1918G>T n.2085G>T c.1833G>T (p.Leu611=) c.525G>T (p.Leu175=) n.2135G>T n.2108G>T | |
8 | g.141168240T>A | CA372343970 | DENND3 | c.1990T>A (p.Tyr664Asn) c.1750T>A (p.Tyr584Asn) c.1594T>A (p.Tyr532Asn) c.1763T>A n.1531T>A c.1789T>A (p.Tyr597Asn) c.1633T>A (p.Tyr545Asn) c.1756T>A (p.Tyr586Asn) c.1246T>A (p.Tyr416Asn) c.1423T>A (p.Tyr475Asn) c.1417T>A (p.Tyr473Asn) c.958T>A (p.Tyr320Asn) c.487T>A (p.Tyr163Asn) n.1919T>A n.2086T>A c.1834T>A (p.Tyr612Asn) c.526T>A (p.Tyr176Asn) n.2136T>A n.2109T>A | |
8 | g.141168240T>C | CA372343971 | DENND3 | c.1990T>C (p.Tyr664His) c.1750T>C (p.Tyr584His) c.1594T>C (p.Tyr532His) c.1763T>C n.1531T>C c.1789T>C (p.Tyr597His) c.1633T>C (p.Tyr545His) c.1756T>C (p.Tyr586His) c.1246T>C (p.Tyr416His) c.1423T>C (p.Tyr475His) c.1417T>C (p.Tyr473His) c.958T>C (p.Tyr320His) c.487T>C (p.Tyr163His) n.1919T>C n.2086T>C c.1834T>C (p.Tyr612His) c.526T>C (p.Tyr176His) n.2136T>C n.2109T>C | |
8 | g.141168240T>G | CA372343969 | DENND3 | c.1990T>G (p.Tyr664Asp) c.1750T>G (p.Tyr584Asp) c.1594T>G (p.Tyr532Asp) c.1763T>G n.1531T>G c.1789T>G (p.Tyr597Asp) c.1633T>G (p.Tyr545Asp) c.1756T>G (p.Tyr586Asp) c.1246T>G (p.Tyr416Asp) c.1423T>G (p.Tyr475Asp) c.1417T>G (p.Tyr473Asp) c.958T>G (p.Tyr320Asp) c.487T>G (p.Tyr163Asp) n.1919T>G n.2086T>G c.1834T>G (p.Tyr612Asp) c.526T>G (p.Tyr176Asp) n.2136T>G n.2109T>G | |
8 | g.141168241A>C | CA372343972 | DENND3 | c.1991A>C (p.Tyr664Ser) c.1751A>C (p.Tyr584Ser) c.1595A>C (p.Tyr532Ser) c.1764A>C n.1532A>C c.1790A>C (p.Tyr597Ser) c.1634A>C (p.Tyr545Ser) c.1757A>C (p.Tyr586Ser) c.1247A>C (p.Tyr416Ser) c.1424A>C (p.Tyr475Ser) c.1418A>C (p.Tyr473Ser) c.959A>C (p.Tyr320Ser) c.488A>C (p.Tyr163Ser) n.1920A>C n.2087A>C c.1835A>C (p.Tyr612Ser) c.527A>C (p.Tyr176Ser) n.2137A>C n.2110A>C | |
8 | g.141168241A>G | CA372343973 | DENND3 | c.1991A>G (p.Tyr664Cys) c.1751A>G (p.Tyr584Cys) c.1595A>G (p.Tyr532Cys) c.1764A>G n.1532A>G c.1790A>G (p.Tyr597Cys) c.1634A>G (p.Tyr545Cys) c.1757A>G (p.Tyr586Cys) c.1247A>G (p.Tyr416Cys) c.1424A>G (p.Tyr475Cys) c.1418A>G (p.Tyr473Cys) c.959A>G (p.Tyr320Cys) c.488A>G (p.Tyr163Cys) n.1920A>G n.2087A>G c.1835A>G (p.Tyr612Cys) c.527A>G (p.Tyr176Cys) n.2137A>G n.2110A>G | dbSNP gnomAD v4 |
8 | g.141168241A>T | CA372343974 | DENND3 | c.1991A>T (p.Tyr664Phe) c.1751A>T (p.Tyr584Phe) c.1595A>T (p.Tyr532Phe) c.1764A>T n.1532A>T c.1790A>T (p.Tyr597Phe) c.1634A>T (p.Tyr545Phe) c.1757A>T (p.Tyr586Phe) c.1247A>T (p.Tyr416Phe) c.1424A>T (p.Tyr475Phe) c.1418A>T (p.Tyr473Phe) c.959A>T (p.Tyr320Phe) c.488A>T (p.Tyr163Phe) n.1920A>T n.2087A>T c.1835A>T (p.Tyr612Phe) c.527A>T (p.Tyr176Phe) n.2137A>T n.2110A>T | |
8 | g.141168242T>A | CA372343975 | DENND3 | c.1992T>A (p.Tyr664Ter) c.1752T>A (p.Tyr584Ter) c.1596T>A (p.Tyr532Ter) c.1765T>A n.1533T>A c.1791T>A (p.Tyr597Ter) c.1635T>A (p.Tyr545Ter) c.1758T>A (p.Tyr586Ter) c.1248T>A (p.Tyr416Ter) c.1425T>A (p.Tyr475Ter) c.1419T>A (p.Tyr473Ter) c.960T>A (p.Tyr320Ter) c.489T>A (p.Tyr163Ter) n.1921T>A n.2088T>A c.1836T>A (p.Tyr612Ter) c.528T>A (p.Tyr176Ter) n.2138T>A n.2111T>A | |
8 | g.141168242T>C | CA463493668 | DENND3 | c.1992T>C (p.Tyr664=) c.1752T>C (p.Tyr584=) c.1596T>C (p.Tyr532=) c.1765T>C n.1533T>C c.1791T>C (p.Tyr597=) c.1635T>C (p.Tyr545=) c.1758T>C (p.Tyr586=) c.1248T>C (p.Tyr416=) c.1425T>C (p.Tyr475=) c.1419T>C (p.Tyr473=) c.960T>C (p.Tyr320=) c.489T>C (p.Tyr163=) n.1921T>C n.2088T>C c.1836T>C (p.Tyr612=) c.528T>C (p.Tyr176=) n.2138T>C n.2111T>C | |
8 | g.141168242T>G | CA372343976 | DENND3 | c.1992T>G (p.Tyr664Ter) c.1752T>G (p.Tyr584Ter) c.1596T>G (p.Tyr532Ter) c.1765T>G n.1533T>G c.1791T>G (p.Tyr597Ter) c.1635T>G (p.Tyr545Ter) c.1758T>G (p.Tyr586Ter) c.1248T>G (p.Tyr416Ter) c.1425T>G (p.Tyr475Ter) c.1419T>G (p.Tyr473Ter) c.960T>G (p.Tyr320Ter) c.489T>G (p.Tyr163Ter) n.1921T>G n.2088T>G c.1836T>G (p.Tyr612Ter) c.528T>G (p.Tyr176Ter) n.2138T>G n.2111T>G | |
8 | g.141168243A>C | CA372343979 | DENND3 | c.1993A>C (p.Lys665Gln) c.1753A>C (p.Lys585Gln) c.1597A>C (p.Lys533Gln) c.1766A>C n.1534A>C c.1792A>C (p.Lys598Gln) c.1636A>C (p.Lys546Gln) c.1759A>C (p.Lys587Gln) c.1249A>C (p.Lys417Gln) c.1426A>C (p.Lys476Gln) c.1420A>C (p.Lys474Gln) c.961A>C (p.Lys321Gln) c.490A>C (p.Lys164Gln) n.1922A>C n.2089A>C c.1837A>C (p.Lys613Gln) c.529A>C (p.Lys177Gln) n.2139A>C n.2112A>C | |
8 | g.141168243A>G | CA372343977 | DENND3 | c.1993A>G (p.Lys665Glu) c.1753A>G (p.Lys585Glu) c.1597A>G (p.Lys533Glu) c.1766A>G n.1534A>G c.1792A>G (p.Lys598Glu) c.1636A>G (p.Lys546Glu) c.1759A>G (p.Lys587Glu) c.1249A>G (p.Lys417Glu) c.1426A>G (p.Lys476Glu) c.1420A>G (p.Lys474Glu) c.961A>G (p.Lys321Glu) c.490A>G (p.Lys164Glu) n.1922A>G n.2089A>G c.1837A>G (p.Lys613Glu) c.529A>G (p.Lys177Glu) n.2139A>G n.2112A>G | |
8 | g.141168243A>T | CA372343978 | DENND3 | c.1993A>T (p.Lys665Ter) c.1753A>T (p.Lys585Ter) c.1597A>T (p.Lys533Ter) c.1766A>T n.1534A>T c.1792A>T (p.Lys598Ter) c.1636A>T (p.Lys546Ter) c.1759A>T (p.Lys587Ter) c.1249A>T (p.Lys417Ter) c.1426A>T (p.Lys476Ter) c.1420A>T (p.Lys474Ter) c.961A>T (p.Lys321Ter) c.490A>T (p.Lys164Ter) n.1922A>T n.2089A>T c.1837A>T (p.Lys613Ter) c.529A>T (p.Lys177Ter) n.2139A>T n.2112A>T | |
8 | g.141168244A>C | CA372343980 | DENND3 | c.1994A>C (p.Lys665Thr) c.1754A>C (p.Lys585Thr) c.1598A>C (p.Lys533Thr) c.1767A>C n.1535A>C c.1793A>C (p.Lys598Thr) c.1637A>C (p.Lys546Thr) c.1760A>C (p.Lys587Thr) c.1250A>C (p.Lys417Thr) c.1427A>C (p.Lys476Thr) c.1421A>C (p.Lys474Thr) c.962A>C (p.Lys321Thr) c.491A>C (p.Lys164Thr) n.1923A>C n.2090A>C c.1838A>C (p.Lys613Thr) c.530A>C (p.Lys177Thr) n.2140A>C n.2113A>C | |
8 | g.141168244A>G | CA372343981 | DENND3 | c.1994A>G (p.Lys665Arg) c.1754A>G (p.Lys585Arg) c.1598A>G (p.Lys533Arg) c.1767A>G n.1535A>G c.1793A>G (p.Lys598Arg) c.1637A>G (p.Lys546Arg) c.1760A>G (p.Lys587Arg) c.1250A>G (p.Lys417Arg) c.1427A>G (p.Lys476Arg) c.1421A>G (p.Lys474Arg) c.962A>G (p.Lys321Arg) c.491A>G (p.Lys164Arg) n.1923A>G n.2090A>G c.1838A>G (p.Lys613Arg) c.530A>G (p.Lys177Arg) n.2140A>G n.2113A>G | gnomAD v4 |
8 | g.141168244A>T | CA372343982 | DENND3 | c.1994A>T (p.Lys665Ile) c.1754A>T (p.Lys585Ile) c.1598A>T (p.Lys533Ile) c.1767A>T n.1535A>T c.1793A>T (p.Lys598Ile) c.1637A>T (p.Lys546Ile) c.1760A>T (p.Lys587Ile) c.1250A>T (p.Lys417Ile) c.1427A>T (p.Lys476Ile) c.1421A>T (p.Lys474Ile) c.962A>T (p.Lys321Ile) c.491A>T (p.Lys164Ile) n.1923A>T n.2090A>T c.1838A>T (p.Lys613Ile) c.530A>T (p.Lys177Ile) n.2140A>T n.2113A>T | dbSNP |
8 | g.141168245A>C | CA372343983 | DENND3 | c.1995A>C (p.Lys665Asn) c.1755A>C (p.Lys585Asn) c.1599A>C (p.Lys533Asn) c.1768A>C n.1536A>C c.1794A>C (p.Lys598Asn) c.1638A>C (p.Lys546Asn) c.1761A>C (p.Lys587Asn) c.1251A>C (p.Lys417Asn) c.1428A>C (p.Lys476Asn) c.1422A>C (p.Lys474Asn) c.963A>C (p.Lys321Asn) c.492A>C (p.Lys164Asn) n.1924A>C n.2091A>C c.1839A>C (p.Lys613Asn) c.531A>C (p.Lys177Asn) n.2141A>C n.2114A>C | |
8 | g.141168245A>G | CA463493679 | DENND3 | c.1995A>G (p.Lys665=) c.1755A>G (p.Lys585=) c.1599A>G (p.Lys533=) c.1768A>G n.1536A>G c.1794A>G (p.Lys598=) c.1638A>G (p.Lys546=) c.1761A>G (p.Lys587=) c.1251A>G (p.Lys417=) c.1428A>G (p.Lys476=) c.1422A>G (p.Lys474=) c.963A>G (p.Lys321=) c.492A>G (p.Lys164=) n.1924A>G n.2091A>G c.1839A>G (p.Lys613=) c.531A>G (p.Lys177=) n.2141A>G n.2114A>G | |
8 | g.141168245A>T | CA372343984 | DENND3 | c.1995A>T (p.Lys665Asn) c.1755A>T (p.Lys585Asn) c.1599A>T (p.Lys533Asn) c.1768A>T n.1536A>T c.1794A>T (p.Lys598Asn) c.1638A>T (p.Lys546Asn) c.1761A>T (p.Lys587Asn) c.1251A>T (p.Lys417Asn) c.1428A>T (p.Lys476Asn) c.1422A>T (p.Lys474Asn) c.963A>T (p.Lys321Asn) c.492A>T (p.Lys164Asn) n.1924A>T n.2091A>T c.1839A>T (p.Lys613Asn) c.531A>T (p.Lys177Asn) n.2141A>T n.2114A>T | |
8 | g.141168246A>C | CA372343987 | DENND3 | c.1996A>C (p.Thr666Pro) c.1756A>C (p.Thr586Pro) c.1600A>C (p.Thr534Pro) c.1769A>C n.1537A>C c.1795A>C (p.Thr599Pro) c.1639A>C (p.Thr547Pro) c.1762A>C (p.Thr588Pro) c.1252A>C (p.Thr418Pro) c.1429A>C (p.Thr477Pro) c.1423A>C (p.Thr475Pro) c.964A>C (p.Thr322Pro) c.493A>C (p.Thr165Pro) n.1925A>C n.2092A>C c.1840A>C (p.Thr614Pro) c.532A>C (p.Thr178Pro) n.2142A>C n.2115A>C | |
8 | g.141168246A>G | CA372343986 | DENND3 | c.1996A>G (p.Thr666Ala) c.1756A>G (p.Thr586Ala) c.1600A>G (p.Thr534Ala) c.1769A>G n.1537A>G c.1795A>G (p.Thr599Ala) c.1639A>G (p.Thr547Ala) c.1762A>G (p.Thr588Ala) c.1252A>G (p.Thr418Ala) c.1429A>G (p.Thr477Ala) c.1423A>G (p.Thr475Ala) c.964A>G (p.Thr322Ala) c.493A>G (p.Thr165Ala) n.1925A>G n.2092A>G c.1840A>G (p.Thr614Ala) c.532A>G (p.Thr178Ala) n.2142A>G n.2115A>G | |
8 | g.141168246A>T | CA372343985 | DENND3 | c.1996A>T (p.Thr666Ser) c.1756A>T (p.Thr586Ser) c.1600A>T (p.Thr534Ser) c.1769A>T n.1537A>T c.1795A>T (p.Thr599Ser) c.1639A>T (p.Thr547Ser) c.1762A>T (p.Thr588Ser) c.1252A>T (p.Thr418Ser) c.1429A>T (p.Thr477Ser) c.1423A>T (p.Thr475Ser) c.964A>T (p.Thr322Ser) c.493A>T (p.Thr165Ser) n.1925A>T n.2092A>T c.1840A>T (p.Thr614Ser) c.532A>T (p.Thr178Ser) n.2142A>T n.2115A>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168247C>A | CA372343988 | DENND3 | c.1997C>A (p.Thr666Lys) c.1757C>A (p.Thr586Lys) c.1601C>A (p.Thr534Lys) c.1770C>A n.1538C>A c.1796C>A (p.Thr599Lys) c.1640C>A (p.Thr547Lys) c.1763C>A (p.Thr588Lys) c.1253C>A (p.Thr418Lys) c.1430C>A (p.Thr477Lys) c.1424C>A (p.Thr475Lys) c.965C>A (p.Thr322Lys) c.494C>A (p.Thr165Lys) n.1926C>A n.2093C>A c.1841C>A (p.Thr614Lys) c.533C>A (p.Thr178Lys) n.2143C>A n.2116C>A | |
8 | g.141168247C>G | CA372343989 | DENND3 | c.1997C>G (p.Thr666Arg) c.1757C>G (p.Thr586Arg) c.1601C>G (p.Thr534Arg) c.1770C>G n.1538C>G c.1796C>G (p.Thr599Arg) c.1640C>G (p.Thr547Arg) c.1763C>G (p.Thr588Arg) c.1253C>G (p.Thr418Arg) c.1430C>G (p.Thr477Arg) c.1424C>G (p.Thr475Arg) c.965C>G (p.Thr322Arg) c.494C>G (p.Thr165Arg) n.1926C>G n.2093C>G c.1841C>G (p.Thr614Arg) c.533C>G (p.Thr178Arg) n.2143C>G n.2116C>G | gnomAD v4 |
8 | g.141168247C>T | CA372343990 | DENND3 | c.1997C>T (p.Thr666Ile) c.1757C>T (p.Thr586Ile) c.1601C>T (p.Thr534Ile) c.1770C>T n.1538C>T c.1796C>T (p.Thr599Ile) c.1640C>T (p.Thr547Ile) c.1763C>T (p.Thr588Ile) c.1253C>T (p.Thr418Ile) c.1430C>T (p.Thr477Ile) c.1424C>T (p.Thr475Ile) c.965C>T (p.Thr322Ile) c.494C>T (p.Thr165Ile) n.1926C>T n.2093C>T c.1841C>T (p.Thr614Ile) c.533C>T (p.Thr178Ile) n.2143C>T n.2116C>T | gnomAD v4 |
8 | g.141168248A>C | CA463493689 | DENND3 | c.1998A>C (p.Thr666=) c.1758A>C (p.Thr586=) c.1602A>C (p.Thr534=) c.1771A>C n.1539A>C c.1797A>C (p.Thr599=) c.1641A>C (p.Thr547=) c.1764A>C (p.Thr588=) c.1254A>C (p.Thr418=) c.1431A>C (p.Thr477=) c.1425A>C (p.Thr475=) c.966A>C (p.Thr322=) c.495A>C (p.Thr165=) n.1927A>C n.2094A>C c.1842A>C (p.Thr614=) c.534A>C (p.Thr178=) n.2144A>C n.2117A>C | |
8 | g.141168248A>G | CA463493691 | DENND3 | c.1998A>G (p.Thr666=) c.1758A>G (p.Thr586=) c.1602A>G (p.Thr534=) c.1771A>G n.1539A>G c.1797A>G (p.Thr599=) c.1641A>G (p.Thr547=) c.1764A>G (p.Thr588=) c.1254A>G (p.Thr418=) c.1431A>G (p.Thr477=) c.1425A>G (p.Thr475=) c.966A>G (p.Thr322=) c.495A>G (p.Thr165=) n.1927A>G n.2094A>G c.1842A>G (p.Thr614=) c.534A>G (p.Thr178=) n.2144A>G n.2117A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168248A>T | CA463493693 | DENND3 | c.1998A>T (p.Thr666=) c.1758A>T (p.Thr586=) c.1602A>T (p.Thr534=) c.1771A>T n.1539A>T c.1797A>T (p.Thr599=) c.1641A>T (p.Thr547=) c.1764A>T (p.Thr588=) c.1254A>T (p.Thr418=) c.1431A>T (p.Thr477=) c.1425A>T (p.Thr475=) c.966A>T (p.Thr322=) c.495A>T (p.Thr165=) n.1927A>T n.2094A>T c.1842A>T (p.Thr614=) c.534A>T (p.Thr178=) n.2144A>T n.2117A>T | |
8 | g.141168249G>A | CA372343991 | DENND3 | c.1999G>A (p.Asp667Asn) c.1759G>A (p.Asp587Asn) c.1603G>A (p.Asp535Asn) c.1772G>A n.1540G>A c.1798G>A (p.Asp600Asn) c.1642G>A (p.Asp548Asn) c.1765G>A (p.Asp589Asn) c.1255G>A (p.Asp419Asn) c.1432G>A (p.Asp478Asn) c.1426G>A (p.Asp476Asn) c.967G>A (p.Asp323Asn) c.496G>A (p.Asp166Asn) n.1928G>A n.2095G>A c.1843G>A (p.Asp615Asn) c.535G>A (p.Asp179Asn) n.2145G>A n.2118G>A | |
8 | g.141168249G>C | CA372343992 | DENND3 | c.1999G>C (p.Asp667His) c.1759G>C (p.Asp587His) c.1603G>C (p.Asp535His) c.1772G>C n.1540G>C c.1798G>C (p.Asp600His) c.1642G>C (p.Asp548His) c.1765G>C (p.Asp589His) c.1255G>C (p.Asp419His) c.1432G>C (p.Asp478His) c.1426G>C (p.Asp476His) c.967G>C (p.Asp323His) c.496G>C (p.Asp166His) n.1928G>C n.2095G>C c.1843G>C (p.Asp615His) c.535G>C (p.Asp179His) n.2145G>C n.2118G>C | |
8 | g.141168249G>T | CA372343993 | DENND3 | c.1999G>T (p.Asp667Tyr) c.1759G>T (p.Asp587Tyr) c.1603G>T (p.Asp535Tyr) c.1772G>T n.1540G>T c.1798G>T (p.Asp600Tyr) c.1642G>T (p.Asp548Tyr) c.1765G>T (p.Asp589Tyr) c.1255G>T (p.Asp419Tyr) c.1432G>T (p.Asp478Tyr) c.1426G>T (p.Asp476Tyr) c.967G>T (p.Asp323Tyr) c.496G>T (p.Asp166Tyr) n.1928G>T n.2095G>T c.1843G>T (p.Asp615Tyr) c.535G>T (p.Asp179Tyr) n.2145G>T n.2118G>T | |
8 | g.141168250A>C | CA372343996 | DENND3 | c.2000A>C (p.Asp667Ala) c.1760A>C (p.Asp587Ala) c.1604A>C (p.Asp535Ala) c.1773A>C n.1541A>C c.1799A>C (p.Asp600Ala) c.1643A>C (p.Asp548Ala) c.1766A>C (p.Asp589Ala) c.1256A>C (p.Asp419Ala) c.1433A>C (p.Asp478Ala) c.1427A>C (p.Asp476Ala) c.968A>C (p.Asp323Ala) c.497A>C (p.Asp166Ala) n.1929A>C n.2096A>C c.1844A>C (p.Asp615Ala) c.536A>C (p.Asp179Ala) n.2146A>C n.2119A>C | |
8 | g.141168250A>G | CA372343995 | DENND3 | c.2000A>G (p.Asp667Gly) c.1760A>G (p.Asp587Gly) c.1604A>G (p.Asp535Gly) c.1773A>G n.1541A>G c.1799A>G (p.Asp600Gly) c.1643A>G (p.Asp548Gly) c.1766A>G (p.Asp589Gly) c.1256A>G (p.Asp419Gly) c.1433A>G (p.Asp478Gly) c.1427A>G (p.Asp476Gly) c.968A>G (p.Asp323Gly) c.497A>G (p.Asp166Gly) n.1929A>G n.2096A>G c.1844A>G (p.Asp615Gly) c.536A>G (p.Asp179Gly) n.2146A>G n.2119A>G | |
8 | g.141168250A>T | CA372343994 | DENND3 | c.2000A>T (p.Asp667Val) c.1760A>T (p.Asp587Val) c.1604A>T (p.Asp535Val) c.1773A>T n.1541A>T c.1799A>T (p.Asp600Val) c.1643A>T (p.Asp548Val) c.1766A>T (p.Asp589Val) c.1256A>T (p.Asp419Val) c.1433A>T (p.Asp478Val) c.1427A>T (p.Asp476Val) c.968A>T (p.Asp323Val) c.497A>T (p.Asp166Val) n.1929A>T n.2096A>T c.1844A>T (p.Asp615Val) c.536A>T (p.Asp179Val) n.2146A>T n.2119A>T | |
8 | g.141168251C>A | CA372343997 | DENND3 | c.2001C>A (p.Asp667Glu) c.1761C>A (p.Asp587Glu) c.1605C>A (p.Asp535Glu) c.1774C>A n.1542C>A c.1800C>A (p.Asp600Glu) c.1644C>A (p.Asp548Glu) c.1767C>A (p.Asp589Glu) c.1257C>A (p.Asp419Glu) c.1434C>A (p.Asp478Glu) c.1428C>A (p.Asp476Glu) c.969C>A (p.Asp323Glu) c.498C>A (p.Asp166Glu) n.1930C>A n.2097C>A c.1845C>A (p.Asp615Glu) c.537C>A (p.Asp179Glu) n.2147C>A n.2120C>A | |
8 | g.141168251C>G | CA372343998 | DENND3 | c.2001C>G (p.Asp667Glu) c.1761C>G (p.Asp587Glu) c.1605C>G (p.Asp535Glu) c.1774C>G n.1542C>G c.1800C>G (p.Asp600Glu) c.1644C>G (p.Asp548Glu) c.1767C>G (p.Asp589Glu) c.1257C>G (p.Asp419Glu) c.1434C>G (p.Asp478Glu) c.1428C>G (p.Asp476Glu) c.969C>G (p.Asp323Glu) c.498C>G (p.Asp166Glu) n.1930C>G n.2097C>G c.1845C>G (p.Asp615Glu) c.537C>G (p.Asp179Glu) n.2147C>G n.2120C>G | |
8 | g.141168251C>T | CA4896788 | DENND3 | c.2001C>T (p.Asp667=) c.1761C>T (p.Asp587=) c.1605C>T (p.Asp535=) c.1774C>T n.1542C>T c.1800C>T (p.Asp600=) c.1644C>T (p.Asp548=) c.1767C>T (p.Asp589=) c.1257C>T (p.Asp419=) c.1434C>T (p.Asp478=) c.1428C>T (p.Asp476=) c.969C>T (p.Asp323=) c.498C>T (p.Asp166=) n.1930C>T n.2097C>T c.1845C>T (p.Asp615=) c.537C>T (p.Asp179=) n.2147C>T n.2120C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168252A>C | CA372343999 | DENND3 | c.2002A>C (p.Ile668Leu) c.1762A>C (p.Ile588Leu) c.1606A>C (p.Ile536Leu) c.1775A>C n.1543A>C c.1801A>C (p.Ile601Leu) c.1645A>C (p.Ile549Leu) c.1768A>C (p.Ile590Leu) c.1258A>C (p.Ile420Leu) c.1435A>C (p.Ile479Leu) c.1429A>C (p.Ile477Leu) c.970A>C (p.Ile324Leu) c.499A>C (p.Ile167Leu) n.1931A>C n.2098A>C c.1846A>C (p.Ile616Leu) c.538A>C (p.Ile180Leu) n.2148A>C n.2121A>C | gnomAD v4 |
8 | g.141168252A>G | CA372344000 | DENND3 | c.2002A>G (p.Ile668Val) c.1762A>G (p.Ile588Val) c.1606A>G (p.Ile536Val) c.1775A>G n.1543A>G c.1801A>G (p.Ile601Val) c.1645A>G (p.Ile549Val) c.1768A>G (p.Ile590Val) c.1258A>G (p.Ile420Val) c.1435A>G (p.Ile479Val) c.1429A>G (p.Ile477Val) c.970A>G (p.Ile324Val) c.499A>G (p.Ile167Val) n.1931A>G n.2098A>G c.1846A>G (p.Ile616Val) c.538A>G (p.Ile180Val) n.2148A>G n.2121A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168252A>T | CA372344001 | DENND3 | c.2002A>T (p.Ile668Leu) c.1762A>T (p.Ile588Leu) c.1606A>T (p.Ile536Leu) c.1775A>T n.1543A>T c.1801A>T (p.Ile601Leu) c.1645A>T (p.Ile549Leu) c.1768A>T (p.Ile590Leu) c.1258A>T (p.Ile420Leu) c.1435A>T (p.Ile479Leu) c.1429A>T (p.Ile477Leu) c.970A>T (p.Ile324Leu) c.499A>T (p.Ile167Leu) n.1931A>T n.2098A>T c.1846A>T (p.Ile616Leu) c.538A>T (p.Ile180Leu) n.2148A>T n.2121A>T | |
8 | g.141168253T>A | CA372344002 | DENND3 | c.2003T>A (p.Ile668Lys) c.1763T>A (p.Ile588Lys) c.1607T>A (p.Ile536Lys) c.1776T>A n.1544T>A c.1802T>A (p.Ile601Lys) c.1646T>A (p.Ile549Lys) c.1769T>A (p.Ile590Lys) c.1259T>A (p.Ile420Lys) c.1436T>A (p.Ile479Lys) c.1430T>A (p.Ile477Lys) c.971T>A (p.Ile324Lys) c.500T>A (p.Ile167Lys) n.1932T>A n.2099T>A c.1847T>A (p.Ile616Lys) c.539T>A (p.Ile180Lys) n.2149T>A n.2122T>A | |
8 | g.141168253T>C | CA372344004 | DENND3 | c.2003T>C (p.Ile668Thr) c.1763T>C (p.Ile588Thr) c.1607T>C (p.Ile536Thr) c.1776T>C n.1544T>C c.1802T>C (p.Ile601Thr) c.1646T>C (p.Ile549Thr) c.1769T>C (p.Ile590Thr) c.1259T>C (p.Ile420Thr) c.1436T>C (p.Ile479Thr) c.1430T>C (p.Ile477Thr) c.971T>C (p.Ile324Thr) c.500T>C (p.Ile167Thr) n.1932T>C n.2099T>C c.1847T>C (p.Ile616Thr) c.539T>C (p.Ile180Thr) n.2149T>C n.2122T>C | gnomAD v4 |