Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.141168223T>A | CA372343927 | DENND3 | c.1973T>A (p.Leu658Ter) c.1733T>A (p.Leu578Ter) c.1577T>A (p.Leu526Ter) c.1746T>A n.1514T>A c.1772T>A (p.Leu591Ter) c.1616T>A (p.Leu539Ter) c.1739T>A (p.Leu580Ter) c.1229T>A (p.Leu410Ter) c.1406T>A (p.Leu469Ter) c.1400T>A (p.Leu467Ter) c.941T>A (p.Leu314Ter) c.470T>A (p.Leu157Ter) n.1902T>A n.2069T>A c.1817T>A (p.Leu606Ter) c.509T>A (p.Leu170Ter) n.2119T>A n.2092T>A | |
8 | g.141168223T>C | CA372343928 | DENND3 | c.1973T>C (p.Leu658Ser) c.1733T>C (p.Leu578Ser) c.1577T>C (p.Leu526Ser) c.1746T>C n.1514T>C c.1772T>C (p.Leu591Ser) c.1616T>C (p.Leu539Ser) c.1739T>C (p.Leu580Ser) c.1229T>C (p.Leu410Ser) c.1406T>C (p.Leu469Ser) c.1400T>C (p.Leu467Ser) c.941T>C (p.Leu314Ser) c.470T>C (p.Leu157Ser) n.1902T>C n.2069T>C c.1817T>C (p.Leu606Ser) c.509T>C (p.Leu170Ser) n.2119T>C n.2092T>C | |
8 | g.141168223T>G | CA372343929 | DENND3 | c.1973T>G (p.Leu658Trp) c.1733T>G (p.Leu578Trp) c.1577T>G (p.Leu526Trp) c.1746T>G n.1514T>G c.1772T>G (p.Leu591Trp) c.1616T>G (p.Leu539Trp) c.1739T>G (p.Leu580Trp) c.1229T>G (p.Leu410Trp) c.1406T>G (p.Leu469Trp) c.1400T>G (p.Leu467Trp) c.941T>G (p.Leu314Trp) c.470T>G (p.Leu157Trp) n.1902T>G n.2069T>G c.1817T>G (p.Leu606Trp) c.509T>G (p.Leu170Trp) n.2119T>G n.2092T>G | |
8 | g.141168224G>A | CA463493592 | DENND3 | c.1974G>A (p.Leu658=) c.1734G>A (p.Leu578=) c.1578G>A (p.Leu526=) c.1747G>A n.1515G>A c.1773G>A (p.Leu591=) c.1617G>A (p.Leu539=) c.1740G>A (p.Leu580=) c.1230G>A (p.Leu410=) c.1407G>A (p.Leu469=) c.1401G>A (p.Leu467=) c.942G>A (p.Leu314=) c.471G>A (p.Leu157=) n.1903G>A n.2070G>A c.1818G>A (p.Leu606=) c.510G>A (p.Leu170=) n.2120G>A n.2093G>A | gnomAD v4 |
8 | g.141168224G>C | CA372343930 | DENND3 | c.1974G>C (p.Leu658Phe) c.1734G>C (p.Leu578Phe) c.1578G>C (p.Leu526Phe) c.1747G>C n.1515G>C c.1773G>C (p.Leu591Phe) c.1617G>C (p.Leu539Phe) c.1740G>C (p.Leu580Phe) c.1230G>C (p.Leu410Phe) c.1407G>C (p.Leu469Phe) c.1401G>C (p.Leu467Phe) c.942G>C (p.Leu314Phe) c.471G>C (p.Leu157Phe) n.1903G>C n.2070G>C c.1818G>C (p.Leu606Phe) c.510G>C (p.Leu170Phe) n.2120G>C n.2093G>C | |
8 | g.141168224G>T | CA372343931 | DENND3 | c.1974G>T (p.Leu658Phe) c.1734G>T (p.Leu578Phe) c.1578G>T (p.Leu526Phe) c.1747G>T n.1515G>T c.1773G>T (p.Leu591Phe) c.1617G>T (p.Leu539Phe) c.1740G>T (p.Leu580Phe) c.1230G>T (p.Leu410Phe) c.1407G>T (p.Leu469Phe) c.1401G>T (p.Leu467Phe) c.942G>T (p.Leu314Phe) c.471G>T (p.Leu157Phe) n.1903G>T n.2070G>T c.1818G>T (p.Leu606Phe) c.510G>T (p.Leu170Phe) n.2120G>T n.2093G>T | |
8 | g.141168225G>A | CA372343932 | DENND3 | c.1975G>A (p.Asp659Asn) c.1735G>A (p.Asp579Asn) c.1579G>A (p.Asp527Asn) c.1748G>A n.1516G>A c.1774G>A (p.Asp592Asn) c.1618G>A (p.Asp540Asn) c.1741G>A (p.Asp581Asn) c.1231G>A (p.Asp411Asn) c.1408G>A (p.Asp470Asn) c.1402G>A (p.Asp468Asn) c.943G>A (p.Asp315Asn) c.472G>A (p.Asp158Asn) n.1904G>A n.2071G>A c.1819G>A (p.Asp607Asn) c.511G>A (p.Asp171Asn) n.2121G>A n.2094G>A | |
8 | g.141168225G>C | CA372343933 | DENND3 | c.1975G>C (p.Asp659His) c.1735G>C (p.Asp579His) c.1579G>C (p.Asp527His) c.1748G>C n.1516G>C c.1774G>C (p.Asp592His) c.1618G>C (p.Asp540His) c.1741G>C (p.Asp581His) c.1231G>C (p.Asp411His) c.1408G>C (p.Asp470His) c.1402G>C (p.Asp468His) c.943G>C (p.Asp315His) c.472G>C (p.Asp158His) n.1904G>C n.2071G>C c.1819G>C (p.Asp607His) c.511G>C (p.Asp171His) n.2121G>C n.2094G>C | |
8 | g.141168225G>T | CA372343934 | DENND3 | c.1975G>T (p.Asp659Tyr) c.1735G>T (p.Asp579Tyr) c.1579G>T (p.Asp527Tyr) c.1748G>T n.1516G>T c.1774G>T (p.Asp592Tyr) c.1618G>T (p.Asp540Tyr) c.1741G>T (p.Asp581Tyr) c.1231G>T (p.Asp411Tyr) c.1408G>T (p.Asp470Tyr) c.1402G>T (p.Asp468Tyr) c.943G>T (p.Asp315Tyr) c.472G>T (p.Asp158Tyr) n.1904G>T n.2071G>T c.1819G>T (p.Asp607Tyr) c.511G>T (p.Asp171Tyr) n.2121G>T n.2094G>T | |
8 | g.141168226A>C | CA372343935 | DENND3 | c.1976A>C (p.Asp659Ala) c.1736A>C (p.Asp579Ala) c.1580A>C (p.Asp527Ala) c.1749A>C n.1517A>C c.1775A>C (p.Asp592Ala) c.1619A>C (p.Asp540Ala) c.1742A>C (p.Asp581Ala) c.1232A>C (p.Asp411Ala) c.1409A>C (p.Asp470Ala) c.1403A>C (p.Asp468Ala) c.944A>C (p.Asp315Ala) c.473A>C (p.Asp158Ala) n.1905A>C n.2072A>C c.1820A>C (p.Asp607Ala) c.512A>C (p.Asp171Ala) n.2122A>C n.2095A>C | gnomAD v4 |
8 | g.141168226A>G | CA372343936 | DENND3 | c.1976A>G (p.Asp659Gly) c.1736A>G (p.Asp579Gly) c.1580A>G (p.Asp527Gly) c.1749A>G n.1517A>G c.1775A>G (p.Asp592Gly) c.1619A>G (p.Asp540Gly) c.1742A>G (p.Asp581Gly) c.1232A>G (p.Asp411Gly) c.1409A>G (p.Asp470Gly) c.1403A>G (p.Asp468Gly) c.944A>G (p.Asp315Gly) c.473A>G (p.Asp158Gly) n.1905A>G n.2072A>G c.1820A>G (p.Asp607Gly) c.512A>G (p.Asp171Gly) n.2122A>G n.2095A>G | |
8 | g.141168226A>T | CA372343937 | DENND3 | c.1976A>T (p.Asp659Val) c.1736A>T (p.Asp579Val) c.1580A>T (p.Asp527Val) c.1749A>T n.1517A>T c.1775A>T (p.Asp592Val) c.1619A>T (p.Asp540Val) c.1742A>T (p.Asp581Val) c.1232A>T (p.Asp411Val) c.1409A>T (p.Asp470Val) c.1403A>T (p.Asp468Val) c.944A>T (p.Asp315Val) c.473A>T (p.Asp158Val) n.1905A>T n.2072A>T c.1820A>T (p.Asp607Val) c.512A>T (p.Asp171Val) n.2122A>T n.2095A>T | |
8 | g.141168227C>A | CA372343938 | DENND3 | c.1977C>A (p.Asp659Glu) c.1737C>A (p.Asp579Glu) c.1581C>A (p.Asp527Glu) c.1750C>A n.1518C>A c.1776C>A (p.Asp592Glu) c.1620C>A (p.Asp540Glu) c.1743C>A (p.Asp581Glu) c.1233C>A (p.Asp411Glu) c.1410C>A (p.Asp470Glu) c.1404C>A (p.Asp468Glu) c.945C>A (p.Asp315Glu) c.474C>A (p.Asp158Glu) n.1906C>A n.2073C>A c.1821C>A (p.Asp607Glu) c.513C>A (p.Asp171Glu) n.2123C>A n.2096C>A | |
8 | g.141168227C>G | CA372343939 | DENND3 | c.1977C>G (p.Asp659Glu) c.1737C>G (p.Asp579Glu) c.1581C>G (p.Asp527Glu) c.1750C>G n.1518C>G c.1776C>G (p.Asp592Glu) c.1620C>G (p.Asp540Glu) c.1743C>G (p.Asp581Glu) c.1233C>G (p.Asp411Glu) c.1410C>G (p.Asp470Glu) c.1404C>G (p.Asp468Glu) c.945C>G (p.Asp315Glu) c.474C>G (p.Asp158Glu) n.1906C>G n.2073C>G c.1821C>G (p.Asp607Glu) c.513C>G (p.Asp171Glu) n.2123C>G n.2096C>G | |
8 | g.141168227C>T | CA463493603 | DENND3 | c.1977C>T (p.Asp659=) c.1737C>T (p.Asp579=) c.1581C>T (p.Asp527=) c.1750C>T n.1518C>T c.1776C>T (p.Asp592=) c.1620C>T (p.Asp540=) c.1743C>T (p.Asp581=) c.1233C>T (p.Asp411=) c.1410C>T (p.Asp470=) c.1404C>T (p.Asp468=) c.945C>T (p.Asp315=) c.474C>T (p.Asp158=) n.1906C>T n.2073C>T c.1821C>T (p.Asp607=) c.513C>T (p.Asp171=) n.2123C>T n.2096C>T | |
8 | g.141168228T>A | CA372343940 | DENND3 | c.1978T>A (p.Phe660Ile) c.1738T>A (p.Phe580Ile) c.1582T>A (p.Phe528Ile) c.1751T>A n.1519T>A c.1777T>A (p.Phe593Ile) c.1621T>A (p.Phe541Ile) c.1744T>A (p.Phe582Ile) c.1234T>A (p.Phe412Ile) c.1411T>A (p.Phe471Ile) c.1405T>A (p.Phe469Ile) c.946T>A (p.Phe316Ile) c.475T>A (p.Phe159Ile) n.1907T>A n.2074T>A c.1822T>A (p.Phe608Ile) c.514T>A (p.Phe172Ile) n.2124T>A n.2097T>A | |
8 | g.141168228T>C | CA372343942 | DENND3 | c.1978T>C (p.Phe660Leu) c.1738T>C (p.Phe580Leu) c.1582T>C (p.Phe528Leu) c.1751T>C n.1519T>C c.1777T>C (p.Phe593Leu) c.1621T>C (p.Phe541Leu) c.1744T>C (p.Phe582Leu) c.1234T>C (p.Phe412Leu) c.1411T>C (p.Phe471Leu) c.1405T>C (p.Phe469Leu) c.946T>C (p.Phe316Leu) c.475T>C (p.Phe159Leu) n.1907T>C n.2074T>C c.1822T>C (p.Phe608Leu) c.514T>C (p.Phe172Leu) n.2124T>C n.2097T>C | |
8 | g.141168228T>G | CA372343941 | DENND3 | c.1978T>G (p.Phe660Val) c.1738T>G (p.Phe580Val) c.1582T>G (p.Phe528Val) c.1751T>G n.1519T>G c.1777T>G (p.Phe593Val) c.1621T>G (p.Phe541Val) c.1744T>G (p.Phe582Val) c.1234T>G (p.Phe412Val) c.1411T>G (p.Phe471Val) c.1405T>G (p.Phe469Val) c.946T>G (p.Phe316Val) c.475T>G (p.Phe159Val) n.1907T>G n.2074T>G c.1822T>G (p.Phe608Val) c.514T>G (p.Phe172Val) n.2124T>G n.2097T>G | |
8 | g.141168229T>A | CA372343943 | DENND3 | c.1979T>A (p.Phe660Tyr) c.1739T>A (p.Phe580Tyr) c.1583T>A (p.Phe528Tyr) c.1752T>A n.1520T>A c.1778T>A (p.Phe593Tyr) c.1622T>A (p.Phe541Tyr) c.1745T>A (p.Phe582Tyr) c.1235T>A (p.Phe412Tyr) c.1412T>A (p.Phe471Tyr) c.1406T>A (p.Phe469Tyr) c.947T>A (p.Phe316Tyr) c.476T>A (p.Phe159Tyr) n.1908T>A n.2075T>A c.1823T>A (p.Phe608Tyr) c.515T>A (p.Phe172Tyr) n.2125T>A n.2098T>A | |
8 | g.141168229T>C | CA372343944 | DENND3 | c.1979T>C (p.Phe660Ser) c.1739T>C (p.Phe580Ser) c.1583T>C (p.Phe528Ser) c.1752T>C n.1520T>C c.1778T>C (p.Phe593Ser) c.1622T>C (p.Phe541Ser) c.1745T>C (p.Phe582Ser) c.1235T>C (p.Phe412Ser) c.1412T>C (p.Phe471Ser) c.1406T>C (p.Phe469Ser) c.947T>C (p.Phe316Ser) c.476T>C (p.Phe159Ser) n.1908T>C n.2075T>C c.1823T>C (p.Phe608Ser) c.515T>C (p.Phe172Ser) n.2125T>C n.2098T>C | |
8 | g.141168229T>G | CA372343945 | DENND3 | c.1979T>G (p.Phe660Cys) c.1739T>G (p.Phe580Cys) c.1583T>G (p.Phe528Cys) c.1752T>G n.1520T>G c.1778T>G (p.Phe593Cys) c.1622T>G (p.Phe541Cys) c.1745T>G (p.Phe582Cys) c.1235T>G (p.Phe412Cys) c.1412T>G (p.Phe471Cys) c.1406T>G (p.Phe469Cys) c.947T>G (p.Phe316Cys) c.476T>G (p.Phe159Cys) n.1908T>G n.2075T>G c.1823T>G (p.Phe608Cys) c.515T>G (p.Phe172Cys) n.2125T>G n.2098T>G | |
8 | g.141168230C>A | CA372343946 | DENND3 | c.1980C>A (p.Phe660Leu) c.1740C>A (p.Phe580Leu) c.1584C>A (p.Phe528Leu) c.1753C>A n.1521C>A c.1779C>A (p.Phe593Leu) c.1623C>A (p.Phe541Leu) c.1746C>A (p.Phe582Leu) c.1236C>A (p.Phe412Leu) c.1413C>A (p.Phe471Leu) c.1407C>A (p.Phe469Leu) c.948C>A (p.Phe316Leu) c.477C>A (p.Phe159Leu) n.1909C>A n.2076C>A c.1824C>A (p.Phe608Leu) c.516C>A (p.Phe172Leu) n.2126C>A n.2099C>A | |
8 | g.141168230C>G | CA372343947 | DENND3 | c.1980C>G (p.Phe660Leu) c.1740C>G (p.Phe580Leu) c.1584C>G (p.Phe528Leu) c.1753C>G n.1521C>G c.1779C>G (p.Phe593Leu) c.1623C>G (p.Phe541Leu) c.1746C>G (p.Phe582Leu) c.1236C>G (p.Phe412Leu) c.1413C>G (p.Phe471Leu) c.1407C>G (p.Phe469Leu) c.948C>G (p.Phe316Leu) c.477C>G (p.Phe159Leu) n.1909C>G n.2076C>G c.1824C>G (p.Phe608Leu) c.516C>G (p.Phe172Leu) n.2126C>G n.2099C>G | |
8 | g.141168230C>T | CA463493616 | DENND3 | c.1980C>T (p.Phe660=) c.1740C>T (p.Phe580=) c.1584C>T (p.Phe528=) c.1753C>T n.1521C>T c.1779C>T (p.Phe593=) c.1623C>T (p.Phe541=) c.1746C>T (p.Phe582=) c.1236C>T (p.Phe412=) c.1413C>T (p.Phe471=) c.1407C>T (p.Phe469=) c.948C>T (p.Phe316=) c.477C>T (p.Phe159=) n.1909C>T n.2076C>T c.1824C>T (p.Phe608=) c.516C>T (p.Phe172=) n.2126C>T n.2099C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168231C>A | CA372343948 | DENND3 | c.1981C>A (p.Gln661Lys) c.1741C>A (p.Gln581Lys) c.1585C>A (p.Gln529Lys) c.1754C>A n.1522C>A c.1780C>A (p.Gln594Lys) c.1624C>A (p.Gln542Lys) c.1747C>A (p.Gln583Lys) c.1237C>A (p.Gln413Lys) c.1414C>A (p.Gln472Lys) c.1408C>A (p.Gln470Lys) c.949C>A (p.Gln317Lys) c.478C>A (p.Gln160Lys) n.1910C>A n.2077C>A c.1825C>A (p.Gln609Lys) c.517C>A (p.Gln173Lys) n.2127C>A n.2100C>A | |
8 | g.141168231C>G | CA372343949 | DENND3 | c.1981C>G (p.Gln661Glu) c.1741C>G (p.Gln581Glu) c.1585C>G (p.Gln529Glu) c.1754C>G n.1522C>G c.1780C>G (p.Gln594Glu) c.1624C>G (p.Gln542Glu) c.1747C>G (p.Gln583Glu) c.1237C>G (p.Gln413Glu) c.1414C>G (p.Gln472Glu) c.1408C>G (p.Gln470Glu) c.949C>G (p.Gln317Glu) c.478C>G (p.Gln160Glu) n.1910C>G n.2077C>G c.1825C>G (p.Gln609Glu) c.517C>G (p.Gln173Glu) n.2127C>G n.2100C>G | |
8 | g.141168231C>T | CA372343950 | DENND3 | c.1981C>T (p.Gln661Ter) c.1741C>T (p.Gln581Ter) c.1585C>T (p.Gln529Ter) c.1754C>T n.1522C>T c.1780C>T (p.Gln594Ter) c.1624C>T (p.Gln542Ter) c.1747C>T (p.Gln583Ter) c.1237C>T (p.Gln413Ter) c.1414C>T (p.Gln472Ter) c.1408C>T (p.Gln470Ter) c.949C>T (p.Gln317Ter) c.478C>T (p.Gln160Ter) n.1910C>T n.2077C>T c.1825C>T (p.Gln609Ter) c.517C>T (p.Gln173Ter) n.2127C>T n.2100C>T | |
8 | g.141168232A>C | CA372343951 | DENND3 | c.1982A>C (p.Gln661Pro) c.1742A>C (p.Gln581Pro) c.1586A>C (p.Gln529Pro) c.1755A>C n.1523A>C c.1781A>C (p.Gln594Pro) c.1625A>C (p.Gln542Pro) c.1748A>C (p.Gln583Pro) c.1238A>C (p.Gln413Pro) c.1415A>C (p.Gln472Pro) c.1409A>C (p.Gln470Pro) c.950A>C (p.Gln317Pro) c.479A>C (p.Gln160Pro) n.1911A>C n.2078A>C c.1826A>C (p.Gln609Pro) c.518A>C (p.Gln173Pro) n.2128A>C n.2101A>C | |
8 | g.141168232A>G | CA372343952 | DENND3 | c.1982A>G (p.Gln661Arg) c.1742A>G (p.Gln581Arg) c.1586A>G (p.Gln529Arg) c.1755A>G n.1523A>G c.1781A>G (p.Gln594Arg) c.1625A>G (p.Gln542Arg) c.1748A>G (p.Gln583Arg) c.1238A>G (p.Gln413Arg) c.1415A>G (p.Gln472Arg) c.1409A>G (p.Gln470Arg) c.950A>G (p.Gln317Arg) c.479A>G (p.Gln160Arg) n.1911A>G n.2078A>G c.1826A>G (p.Gln609Arg) c.518A>G (p.Gln173Arg) n.2128A>G n.2101A>G | |
8 | g.141168232A>T | CA372343953 | DENND3 | c.1982A>T (p.Gln661Leu) c.1742A>T (p.Gln581Leu) c.1586A>T (p.Gln529Leu) c.1755A>T n.1523A>T c.1781A>T (p.Gln594Leu) c.1625A>T (p.Gln542Leu) c.1748A>T (p.Gln583Leu) c.1238A>T (p.Gln413Leu) c.1415A>T (p.Gln472Leu) c.1409A>T (p.Gln470Leu) c.950A>T (p.Gln317Leu) c.479A>T (p.Gln160Leu) n.1911A>T n.2078A>T c.1826A>T (p.Gln609Leu) c.518A>T (p.Gln173Leu) n.2128A>T n.2101A>T | |
8 | g.141168233G>A | CA4896787 | DENND3 | c.1983G>A (p.Gln661=) c.1743G>A (p.Gln581=) c.1587G>A (p.Gln529=) c.1756G>A n.1524G>A c.1782G>A (p.Gln594=) c.1626G>A (p.Gln542=) c.1749G>A (p.Gln583=) c.1239G>A (p.Gln413=) c.1416G>A (p.Gln472=) c.1410G>A (p.Gln470=) c.951G>A (p.Gln317=) c.480G>A (p.Gln160=) n.1912G>A n.2079G>A c.1827G>A (p.Gln609=) c.519G>A (p.Gln173=) n.2129G>A n.2102G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168233G>C | CA372343955 | DENND3 | c.1983G>C (p.Gln661His) c.1743G>C (p.Gln581His) c.1587G>C (p.Gln529His) c.1756G>C n.1524G>C c.1782G>C (p.Gln594His) c.1626G>C (p.Gln542His) c.1749G>C (p.Gln583His) c.1239G>C (p.Gln413His) c.1416G>C (p.Gln472His) c.1410G>C (p.Gln470His) c.951G>C (p.Gln317His) c.480G>C (p.Gln160His) n.1912G>C n.2079G>C c.1827G>C (p.Gln609His) c.519G>C (p.Gln173His) n.2129G>C n.2102G>C | dbSNP gnomAD v4 |
8 | g.141168233G>T | CA372343954 | DENND3 | c.1983G>T (p.Gln661His) c.1743G>T (p.Gln581His) c.1587G>T (p.Gln529His) c.1756G>T n.1524G>T c.1782G>T (p.Gln594His) c.1626G>T (p.Gln542His) c.1749G>T (p.Gln583His) c.1239G>T (p.Gln413His) c.1416G>T (p.Gln472His) c.1410G>T (p.Gln470His) c.951G>T (p.Gln317His) c.480G>T (p.Gln160His) n.1912G>T n.2079G>T c.1827G>T (p.Gln609His) c.519G>T (p.Gln173His) n.2129G>T n.2102G>T | COSMIC |
8 | g.141168234A>C | CA372343958 | DENND3 | c.1984A>C (p.Asn662His) c.1744A>C (p.Asn582His) c.1588A>C (p.Asn530His) c.1757A>C n.1525A>C c.1783A>C (p.Asn595His) c.1627A>C (p.Asn543His) c.1750A>C (p.Asn584His) c.1240A>C (p.Asn414His) c.1417A>C (p.Asn473His) c.1411A>C (p.Asn471His) c.952A>C (p.Asn318His) c.481A>C (p.Asn161His) n.1913A>C n.2080A>C c.1828A>C (p.Asn610His) c.520A>C (p.Asn174His) n.2130A>C n.2103A>C | |
8 | g.141168234A>G | CA372343956 | DENND3 | c.1984A>G (p.Asn662Asp) c.1744A>G (p.Asn582Asp) c.1588A>G (p.Asn530Asp) c.1757A>G n.1525A>G c.1783A>G (p.Asn595Asp) c.1627A>G (p.Asn543Asp) c.1750A>G (p.Asn584Asp) c.1240A>G (p.Asn414Asp) c.1417A>G (p.Asn473Asp) c.1411A>G (p.Asn471Asp) c.952A>G (p.Asn318Asp) c.481A>G (p.Asn161Asp) n.1913A>G n.2080A>G c.1828A>G (p.Asn610Asp) c.520A>G (p.Asn174Asp) n.2130A>G n.2103A>G | |
8 | g.141168234A>T | CA372343957 | DENND3 | c.1984A>T (p.Asn662Tyr) c.1744A>T (p.Asn582Tyr) c.1588A>T (p.Asn530Tyr) c.1757A>T n.1525A>T c.1783A>T (p.Asn595Tyr) c.1627A>T (p.Asn543Tyr) c.1750A>T (p.Asn584Tyr) c.1240A>T (p.Asn414Tyr) c.1417A>T (p.Asn473Tyr) c.1411A>T (p.Asn471Tyr) c.952A>T (p.Asn318Tyr) c.481A>T (p.Asn161Tyr) n.1913A>T n.2080A>T c.1828A>T (p.Asn610Tyr) c.520A>T (p.Asn174Tyr) n.2130A>T n.2103A>T | |
8 | g.141168235A>C | CA372343959 | DENND3 | c.1985A>C (p.Asn662Thr) c.1745A>C (p.Asn582Thr) c.1589A>C (p.Asn530Thr) c.1758A>C n.1526A>C c.1784A>C (p.Asn595Thr) c.1628A>C (p.Asn543Thr) c.1751A>C (p.Asn584Thr) c.1241A>C (p.Asn414Thr) c.1418A>C (p.Asn473Thr) c.1412A>C (p.Asn471Thr) c.953A>C (p.Asn318Thr) c.482A>C (p.Asn161Thr) n.1914A>C n.2081A>C c.1829A>C (p.Asn610Thr) c.521A>C (p.Asn174Thr) n.2131A>C n.2104A>C | |
8 | g.141168235A>G | CA372343960 | DENND3 | c.1985A>G (p.Asn662Ser) c.1745A>G (p.Asn582Ser) c.1589A>G (p.Asn530Ser) c.1758A>G n.1526A>G c.1784A>G (p.Asn595Ser) c.1628A>G (p.Asn543Ser) c.1751A>G (p.Asn584Ser) c.1241A>G (p.Asn414Ser) c.1418A>G (p.Asn473Ser) c.1412A>G (p.Asn471Ser) c.953A>G (p.Asn318Ser) c.482A>G (p.Asn161Ser) n.1914A>G n.2081A>G c.1829A>G (p.Asn610Ser) c.521A>G (p.Asn174Ser) n.2131A>G n.2104A>G | |
8 | g.141168235A>T | CA372343961 | DENND3 | c.1985A>T (p.Asn662Ile) c.1745A>T (p.Asn582Ile) c.1589A>T (p.Asn530Ile) c.1758A>T n.1526A>T c.1784A>T (p.Asn595Ile) c.1628A>T (p.Asn543Ile) c.1751A>T (p.Asn584Ile) c.1241A>T (p.Asn414Ile) c.1418A>T (p.Asn473Ile) c.1412A>T (p.Asn471Ile) c.953A>T (p.Asn318Ile) c.482A>T (p.Asn161Ile) n.1914A>T n.2081A>T c.1829A>T (p.Asn610Ile) c.521A>T (p.Asn174Ile) n.2131A>T n.2104A>T | |
8 | g.141168236T>A | CA372343962 | DENND3 | c.1986T>A (p.Asn662Lys) c.1746T>A (p.Asn582Lys) c.1590T>A (p.Asn530Lys) c.1759T>A n.1527T>A c.1785T>A (p.Asn595Lys) c.1629T>A (p.Asn543Lys) c.1752T>A (p.Asn584Lys) c.1242T>A (p.Asn414Lys) c.1419T>A (p.Asn473Lys) c.1413T>A (p.Asn471Lys) c.954T>A (p.Asn318Lys) c.483T>A (p.Asn161Lys) n.1915T>A n.2082T>A c.1830T>A (p.Asn610Lys) c.522T>A (p.Asn174Lys) n.2132T>A n.2105T>A | |
8 | g.141168236T>C | CA463493642 | DENND3 | c.1986T>C (p.Asn662=) c.1746T>C (p.Asn582=) c.1590T>C (p.Asn530=) c.1759T>C n.1527T>C c.1785T>C (p.Asn595=) c.1629T>C (p.Asn543=) c.1752T>C (p.Asn584=) c.1242T>C (p.Asn414=) c.1419T>C (p.Asn473=) c.1413T>C (p.Asn471=) c.954T>C (p.Asn318=) c.483T>C (p.Asn161=) n.1915T>C n.2082T>C c.1830T>C (p.Asn610=) c.522T>C (p.Asn174=) n.2132T>C n.2105T>C | |
8 | g.141168236T>G | CA372343963 | DENND3 | c.1986T>G (p.Asn662Lys) c.1746T>G (p.Asn582Lys) c.1590T>G (p.Asn530Lys) c.1759T>G n.1527T>G c.1785T>G (p.Asn595Lys) c.1629T>G (p.Asn543Lys) c.1752T>G (p.Asn584Lys) c.1242T>G (p.Asn414Lys) c.1419T>G (p.Asn473Lys) c.1413T>G (p.Asn471Lys) c.954T>G (p.Asn318Lys) c.483T>G (p.Asn161Lys) n.1915T>G n.2082T>G c.1830T>G (p.Asn610Lys) c.522T>G (p.Asn174Lys) n.2132T>G n.2105T>G | |
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 |
8 | g.141168253T>G | CA372344003 | DENND3 | c.2003T>G (p.Ile668Arg) c.1763T>G (p.Ile588Arg) c.1607T>G (p.Ile536Arg) c.1776T>G n.1544T>G c.1802T>G (p.Ile601Arg) c.1646T>G (p.Ile549Arg) c.1769T>G (p.Ile590Arg) c.1259T>G (p.Ile420Arg) c.1436T>G (p.Ile479Arg) c.1430T>G (p.Ile477Arg) c.971T>G (p.Ile324Arg) c.500T>G (p.Ile167Arg) n.1932T>G n.2099T>G c.1847T>G (p.Ile616Arg) c.539T>G (p.Ile180Arg) n.2149T>G n.2122T>G | |
8 | g.141168254A>C | CA463493712 | DENND3 | c.2004A>C (p.Ile668=) c.1764A>C (p.Ile588=) c.1608A>C (p.Ile536=) c.1777A>C n.1545A>C c.1803A>C (p.Ile601=) c.1647A>C (p.Ile549=) c.1770A>C (p.Ile590=) c.1260A>C (p.Ile420=) c.1437A>C (p.Ile479=) c.1431A>C (p.Ile477=) c.972A>C (p.Ile324=) c.501A>C (p.Ile167=) n.1933A>C n.2100A>C c.1848A>C (p.Ile616=) c.540A>C (p.Ile180=) n.2150A>C n.2123A>C | |
8 | g.141168254A>G | CA372344005 | DENND3 | c.2004A>G (p.Ile668Met) c.1764A>G (p.Ile588Met) c.1608A>G (p.Ile536Met) c.1777A>G n.1545A>G c.1803A>G (p.Ile601Met) c.1647A>G (p.Ile549Met) c.1770A>G (p.Ile590Met) c.1260A>G (p.Ile420Met) c.1437A>G (p.Ile479Met) c.1431A>G (p.Ile477Met) c.972A>G (p.Ile324Met) c.501A>G (p.Ile167Met) n.1933A>G n.2100A>G c.1848A>G (p.Ile616Met) c.540A>G (p.Ile180Met) n.2150A>G n.2123A>G | |
8 | g.141168254A>T | CA463493717 | DENND3 | c.2004A>T (p.Ile668=) c.1764A>T (p.Ile588=) c.1608A>T (p.Ile536=) c.1777A>T n.1545A>T c.1803A>T (p.Ile601=) c.1647A>T (p.Ile549=) c.1770A>T (p.Ile590=) c.1260A>T (p.Ile420=) c.1437A>T (p.Ile479=) c.1431A>T (p.Ile477=) c.972A>T (p.Ile324=) c.501A>T (p.Ile167=) n.1933A>T n.2100A>T c.1848A>T (p.Ile616=) c.540A>T (p.Ile180=) n.2150A>T n.2123A>T | dbSNP |
8 | g.141168255C>A | CA463493722 | DENND3 | c.2005C>A (p.Arg669=) c.1765C>A (p.Arg589=) c.1609C>A (p.Arg537=) c.1778C>A n.1546C>A c.1804C>A (p.Arg602=) c.1648C>A (p.Arg550=) c.1771C>A (p.Arg591=) c.1261C>A (p.Arg421=) c.1438C>A (p.Arg480=) c.1432C>A (p.Arg478=) c.973C>A (p.Arg325=) c.502C>A (p.Arg168=) n.1934C>A n.2101C>A c.1849C>A (p.Arg617=) c.541C>A (p.Arg181=) n.2151C>A n.2124C>A | COSMIC |
8 | g.141168255C>G | CA372344006 | DENND3 | c.2005C>G (p.Arg669Gly) c.1765C>G (p.Arg589Gly) c.1609C>G (p.Arg537Gly) c.1778C>G n.1546C>G c.1804C>G (p.Arg602Gly) c.1648C>G (p.Arg550Gly) c.1771C>G (p.Arg591Gly) c.1261C>G (p.Arg421Gly) c.1438C>G (p.Arg480Gly) c.1432C>G (p.Arg478Gly) c.973C>G (p.Arg325Gly) c.502C>G (p.Arg168Gly) n.1934C>G n.2101C>G c.1849C>G (p.Arg617Gly) c.541C>G (p.Arg181Gly) n.2151C>G n.2124C>G | |
8 | g.141168255C>T | CA372344007 | DENND3 | c.2005C>T (p.Arg669Trp) c.1765C>T (p.Arg589Trp) c.1609C>T (p.Arg537Trp) c.1778C>T n.1546C>T c.1804C>T (p.Arg602Trp) c.1648C>T (p.Arg550Trp) c.1771C>T (p.Arg591Trp) c.1261C>T (p.Arg421Trp) c.1438C>T (p.Arg480Trp) c.1432C>T (p.Arg478Trp) c.973C>T (p.Arg325Trp) c.502C>T (p.Arg168Trp) n.1934C>T n.2101C>T c.1849C>T (p.Arg617Trp) c.541C>T (p.Arg181Trp) n.2151C>T n.2124C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168256G>A | CA4896789 | DENND3 | c.2006G>A (p.Arg669Gln) c.1766G>A (p.Arg589Gln) c.1610G>A (p.Arg537Gln) c.1779G>A n.1547G>A c.1805G>A (p.Arg602Gln) c.1649G>A (p.Arg550Gln) c.1772G>A (p.Arg591Gln) c.1262G>A (p.Arg421Gln) c.1439G>A (p.Arg480Gln) c.1433G>A (p.Arg478Gln) c.974G>A (p.Arg325Gln) c.503G>A (p.Arg168Gln) n.1935G>A n.2102G>A c.1850G>A (p.Arg617Gln) c.542G>A (p.Arg181Gln) n.2152G>A n.2125G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.141168256G>C | CA372344008 | DENND3 | c.2006G>C (p.Arg669Pro) c.1766G>C (p.Arg589Pro) c.1610G>C (p.Arg537Pro) c.1779G>C n.1547G>C c.1805G>C (p.Arg602Pro) c.1649G>C (p.Arg550Pro) c.1772G>C (p.Arg591Pro) c.1262G>C (p.Arg421Pro) c.1439G>C (p.Arg480Pro) c.1433G>C (p.Arg478Pro) c.974G>C (p.Arg325Pro) c.503G>C (p.Arg168Pro) n.1935G>C n.2102G>C c.1850G>C (p.Arg617Pro) c.542G>C (p.Arg181Pro) n.2152G>C n.2125G>C | |
8 | g.141168256G>T | CA372344009 | DENND3 | c.2006G>T (p.Arg669Leu) c.1766G>T (p.Arg589Leu) c.1610G>T (p.Arg537Leu) c.1779G>T n.1547G>T c.1805G>T (p.Arg602Leu) c.1649G>T (p.Arg550Leu) c.1772G>T (p.Arg591Leu) c.1262G>T (p.Arg421Leu) c.1439G>T (p.Arg480Leu) c.1433G>T (p.Arg478Leu) c.974G>T (p.Arg325Leu) c.503G>T (p.Arg168Leu) n.1935G>T n.2102G>T c.1850G>T (p.Arg617Leu) c.542G>T (p.Arg181Leu) n.2152G>T n.2125G>T | |
8 | g.141168257G>A | CA463493727 | DENND3 | c.2007G>A (p.Arg669=) c.1767G>A (p.Arg589=) c.1611G>A (p.Arg537=) c.1780G>A n.1548G>A c.1806G>A (p.Arg602=) c.1650G>A (p.Arg550=) c.1773G>A (p.Arg591=) c.1263G>A (p.Arg421=) c.1440G>A (p.Arg480=) c.1434G>A (p.Arg478=) c.975G>A (p.Arg325=) c.504G>A (p.Arg168=) n.1936G>A n.2103G>A c.1851G>A (p.Arg617=) c.543G>A (p.Arg181=) n.2153G>A n.2126G>A | gnomAD v4 |
8 | g.141168257G>C | CA463493729 | DENND3 | c.2007G>C (p.Arg669=) c.1767G>C (p.Arg589=) c.1611G>C (p.Arg537=) c.1780G>C n.1548G>C c.1806G>C (p.Arg602=) c.1650G>C (p.Arg550=) c.1773G>C (p.Arg591=) c.1263G>C (p.Arg421=) c.1440G>C (p.Arg480=) c.1434G>C (p.Arg478=) c.975G>C (p.Arg325=) c.504G>C (p.Arg168=) n.1936G>C n.2103G>C c.1851G>C (p.Arg617=) c.543G>C (p.Arg181=) n.2153G>C n.2126G>C | |
8 | g.141168257G>T | CA463493731 | DENND3 | c.2007G>T (p.Arg669=) c.1767G>T (p.Arg589=) c.1611G>T (p.Arg537=) c.1780G>T n.1548G>T c.1806G>T (p.Arg602=) c.1650G>T (p.Arg550=) c.1773G>T (p.Arg591=) c.1263G>T (p.Arg421=) c.1440G>T (p.Arg480=) c.1434G>T (p.Arg478=) c.975G>T (p.Arg325=) c.504G>T (p.Arg168=) n.1936G>T n.2103G>T c.1851G>T (p.Arg617=) c.543G>T (p.Arg181=) n.2153G>T n.2126G>T | |
8 | g.141168258A>C | CA372344010 | DENND3 | c.2008A>C (p.Ile670Leu) c.1768A>C (p.Ile590Leu) c.1612A>C (p.Ile538Leu) c.1781A>C n.1549A>C c.1807A>C (p.Ile603Leu) c.1651A>C (p.Ile551Leu) c.1774A>C (p.Ile592Leu) c.1264A>C (p.Ile422Leu) c.1441A>C (p.Ile481Leu) c.1435A>C (p.Ile479Leu) c.976A>C (p.Ile326Leu) c.505A>C (p.Ile169Leu) n.1937A>C n.2104A>C c.1852A>C (p.Ile618Leu) c.544A>C (p.Ile182Leu) n.2154A>C n.2127A>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168258A>G | CA372344011 | DENND3 | c.2008A>G (p.Ile670Val) c.1768A>G (p.Ile590Val) c.1612A>G (p.Ile538Val) c.1781A>G n.1549A>G c.1807A>G (p.Ile603Val) c.1651A>G (p.Ile551Val) c.1774A>G (p.Ile592Val) c.1264A>G (p.Ile422Val) c.1441A>G (p.Ile481Val) c.1435A>G (p.Ile479Val) c.976A>G (p.Ile326Val) c.505A>G (p.Ile169Val) n.1937A>G n.2104A>G c.1852A>G (p.Ile618Val) c.544A>G (p.Ile182Val) n.2154A>G n.2127A>G | |
8 | g.141168258A>T | CA372344012 | DENND3 | c.2008A>T (p.Ile670Phe) c.1768A>T (p.Ile590Phe) c.1612A>T (p.Ile538Phe) c.1781A>T n.1549A>T c.1807A>T (p.Ile603Phe) c.1651A>T (p.Ile551Phe) c.1774A>T (p.Ile592Phe) c.1264A>T (p.Ile422Phe) c.1441A>T (p.Ile481Phe) c.1435A>T (p.Ile479Phe) c.976A>T (p.Ile326Phe) c.505A>T (p.Ile169Phe) n.1937A>T n.2104A>T c.1852A>T (p.Ile618Phe) c.544A>T (p.Ile182Phe) n.2154A>T n.2127A>T | |
8 | g.141168259T>A | CA372344013 | DENND3 | c.2009T>A (p.Ile670Asn) c.1769T>A (p.Ile590Asn) c.1613T>A (p.Ile538Asn) c.1782T>A n.1550T>A c.1808T>A (p.Ile603Asn) c.1652T>A (p.Ile551Asn) c.1775T>A (p.Ile592Asn) c.1265T>A (p.Ile422Asn) c.1442T>A (p.Ile481Asn) c.1436T>A (p.Ile479Asn) c.977T>A (p.Ile326Asn) c.506T>A (p.Ile169Asn) n.1938T>A n.2105T>A c.1853T>A (p.Ile618Asn) c.545T>A (p.Ile182Asn) n.2155T>A n.2128T>A | |
8 | g.141168259T>C | CA372344014 | DENND3 | c.2009T>C (p.Ile670Thr) c.1769T>C (p.Ile590Thr) c.1613T>C (p.Ile538Thr) c.1782T>C n.1550T>C c.1808T>C (p.Ile603Thr) c.1652T>C (p.Ile551Thr) c.1775T>C (p.Ile592Thr) c.1265T>C (p.Ile422Thr) c.1442T>C (p.Ile481Thr) c.1436T>C (p.Ile479Thr) c.977T>C (p.Ile326Thr) c.506T>C (p.Ile169Thr) n.1938T>C n.2105T>C c.1853T>C (p.Ile618Thr) c.545T>C (p.Ile182Thr) n.2155T>C n.2128T>C | |
8 | g.141168259T>G | CA372344015 | DENND3 | c.2009T>G (p.Ile670Ser) c.1769T>G (p.Ile590Ser) c.1613T>G (p.Ile538Ser) c.1782T>G n.1550T>G c.1808T>G (p.Ile603Ser) c.1652T>G (p.Ile551Ser) c.1775T>G (p.Ile592Ser) c.1265T>G (p.Ile422Ser) c.1442T>G (p.Ile481Ser) c.1436T>G (p.Ile479Ser) c.977T>G (p.Ile326Ser) c.506T>G (p.Ile169Ser) n.1938T>G n.2105T>G c.1853T>G (p.Ile618Ser) c.545T>G (p.Ile182Ser) n.2155T>G n.2128T>G | |
8 | g.141168260C>A | CA463493740 | DENND3 | c.2010C>A (p.Ile670=) c.1770C>A (p.Ile590=) c.1614C>A (p.Ile538=) c.1783C>A n.1551C>A c.1809C>A (p.Ile603=) c.1653C>A (p.Ile551=) c.1776C>A (p.Ile592=) c.1266C>A (p.Ile422=) c.1443C>A (p.Ile481=) c.1437C>A (p.Ile479=) c.978C>A (p.Ile326=) c.507C>A (p.Ile169=) n.1939C>A n.2106C>A c.1854C>A (p.Ile618=) c.546C>A (p.Ile182=) n.2156C>A n.2129C>A | |
8 | g.141168260C>G | CA372344016 | DENND3 | c.2010C>G (p.Ile670Met) c.1770C>G (p.Ile590Met) c.1614C>G (p.Ile538Met) c.1783C>G n.1551C>G c.1809C>G (p.Ile603Met) c.1653C>G (p.Ile551Met) c.1776C>G (p.Ile592Met) c.1266C>G (p.Ile422Met) c.1443C>G (p.Ile481Met) c.1437C>G (p.Ile479Met) c.978C>G (p.Ile326Met) c.507C>G (p.Ile169Met) n.1939C>G n.2106C>G c.1854C>G (p.Ile618Met) c.546C>G (p.Ile182Met) n.2156C>G n.2129C>G | |
8 | g.141168260C>T | CA187325740 | DENND3 | c.2010C>T (p.Ile670=) c.1770C>T (p.Ile590=) c.1614C>T (p.Ile538=) c.1783C>T n.1551C>T c.1809C>T (p.Ile603=) c.1653C>T (p.Ile551=) c.1776C>T (p.Ile592=) c.1266C>T (p.Ile422=) c.1443C>T (p.Ile481=) c.1437C>T (p.Ile479=) c.978C>T (p.Ile326=) c.507C>T (p.Ile169=) n.1939C>T n.2106C>T c.1854C>T (p.Ile618=) c.546C>T (p.Ile182=) n.2156C>T n.2129C>T | dbSNP gnomAD v4 |
8 | g.141168261T>A | CA372344017 | DENND3 | c.2011T>A (p.Phe671Ile) c.1771T>A (p.Phe591Ile) c.1615T>A (p.Phe539Ile) c.1784T>A n.1552T>A c.1810T>A (p.Phe604Ile) c.1654T>A (p.Phe552Ile) c.1777T>A (p.Phe593Ile) c.1267T>A (p.Phe423Ile) c.1444T>A (p.Phe482Ile) c.1438T>A (p.Phe480Ile) c.979T>A (p.Phe327Ile) c.508T>A (p.Phe170Ile) n.1940T>A n.2107T>A c.1855T>A (p.Phe619Ile) c.547T>A (p.Phe183Ile) n.2157T>A n.2130T>A | |
8 | g.141168261T>C | CA372344019 | DENND3 | c.2011T>C (p.Phe671Leu) c.1771T>C (p.Phe591Leu) c.1615T>C (p.Phe539Leu) c.1784T>C n.1552T>C c.1810T>C (p.Phe604Leu) c.1654T>C (p.Phe552Leu) c.1777T>C (p.Phe593Leu) c.1267T>C (p.Phe423Leu) c.1444T>C (p.Phe482Leu) c.1438T>C (p.Phe480Leu) c.979T>C (p.Phe327Leu) c.508T>C (p.Phe170Leu) n.1940T>C n.2107T>C c.1855T>C (p.Phe619Leu) c.547T>C (p.Phe183Leu) n.2157T>C n.2130T>C | |
8 | g.141168261T>G | CA372344018 | DENND3 | c.2011T>G (p.Phe671Val) c.1771T>G (p.Phe591Val) c.1615T>G (p.Phe539Val) c.1784T>G n.1552T>G c.1810T>G (p.Phe604Val) c.1654T>G (p.Phe552Val) c.1777T>G (p.Phe593Val) c.1267T>G (p.Phe423Val) c.1444T>G (p.Phe482Val) c.1438T>G (p.Phe480Val) c.979T>G (p.Phe327Val) c.508T>G (p.Phe170Val) n.1940T>G n.2107T>G c.1855T>G (p.Phe619Val) c.547T>G (p.Phe183Val) n.2157T>G n.2130T>G | gnomAD v4 |
8 | g.141168262T>A | CA372344020 | DENND3 | c.2012T>A (p.Phe671Tyr) c.1772T>A (p.Phe591Tyr) c.1616T>A (p.Phe539Tyr) c.1785T>A n.1553T>A c.1811T>A (p.Phe604Tyr) c.1655T>A (p.Phe552Tyr) c.1778T>A (p.Phe593Tyr) c.1268T>A (p.Phe423Tyr) c.1445T>A (p.Phe482Tyr) c.1439T>A (p.Phe480Tyr) c.980T>A (p.Phe327Tyr) c.509T>A (p.Phe170Tyr) n.1941T>A n.2108T>A c.1856T>A (p.Phe619Tyr) c.548T>A (p.Phe183Tyr) n.2158T>A n.2131T>A | |
8 | g.141168262T>C | CA372344022 | DENND3 | c.2012T>C (p.Phe671Ser) c.1772T>C (p.Phe591Ser) c.1616T>C (p.Phe539Ser) c.1785T>C n.1553T>C c.1811T>C (p.Phe604Ser) c.1655T>C (p.Phe552Ser) c.1778T>C (p.Phe593Ser) c.1268T>C (p.Phe423Ser) c.1445T>C (p.Phe482Ser) c.1439T>C (p.Phe480Ser) c.980T>C (p.Phe327Ser) c.509T>C (p.Phe170Ser) n.1941T>C n.2108T>C c.1856T>C (p.Phe619Ser) c.548T>C (p.Phe183Ser) n.2158T>C n.2131T>C | gnomAD v4 |
8 | g.141168262T>G | CA372344021 | DENND3 | c.2012T>G (p.Phe671Cys) c.1772T>G (p.Phe591Cys) c.1616T>G (p.Phe539Cys) c.1785T>G n.1553T>G c.1811T>G (p.Phe604Cys) c.1655T>G (p.Phe552Cys) c.1778T>G (p.Phe593Cys) c.1268T>G (p.Phe423Cys) c.1445T>G (p.Phe482Cys) c.1439T>G (p.Phe480Cys) c.980T>G (p.Phe327Cys) c.509T>G (p.Phe170Cys) n.1941T>G n.2108T>G c.1856T>G (p.Phe619Cys) c.548T>G (p.Phe183Cys) n.2158T>G n.2131T>G | |
8 | g.141168263T>A | CA372344023 | DENND3 | c.2013T>A (p.Phe671Leu) c.1773T>A (p.Phe591Leu) c.1617T>A (p.Phe539Leu) c.1786T>A n.1554T>A c.1812T>A (p.Phe604Leu) c.1656T>A (p.Phe552Leu) c.1779T>A (p.Phe593Leu) c.1269T>A (p.Phe423Leu) c.1446T>A (p.Phe482Leu) c.1440T>A (p.Phe480Leu) c.981T>A (p.Phe327Leu) c.510T>A (p.Phe170Leu) n.1942T>A n.2109T>A c.1857T>A (p.Phe619Leu) c.549T>A (p.Phe183Leu) n.2159T>A n.2132T>A | |
8 | g.141168263T>C | CA463493752 | DENND3 | c.2013T>C (p.Phe671=) c.1773T>C (p.Phe591=) c.1617T>C (p.Phe539=) c.1786T>C n.1554T>C c.1812T>C (p.Phe604=) c.1656T>C (p.Phe552=) c.1779T>C (p.Phe593=) c.1269T>C (p.Phe423=) c.1446T>C (p.Phe482=) c.1440T>C (p.Phe480=) c.981T>C (p.Phe327=) c.510T>C (p.Phe170=) n.1942T>C n.2109T>C c.1857T>C (p.Phe619=) c.549T>C (p.Phe183=) n.2159T>C n.2132T>C | |
8 | g.141168263T>G | CA372344024 | DENND3 | c.2013T>G (p.Phe671Leu) c.1773T>G (p.Phe591Leu) c.1617T>G (p.Phe539Leu) c.1786T>G n.1554T>G c.1812T>G (p.Phe604Leu) c.1656T>G (p.Phe552Leu) c.1779T>G (p.Phe593Leu) c.1269T>G (p.Phe423Leu) c.1446T>G (p.Phe482Leu) c.1440T>G (p.Phe480Leu) c.981T>G (p.Phe327Leu) c.510T>G (p.Phe170Leu) n.1942T>G n.2109T>G c.1857T>G (p.Phe619Leu) c.549T>G (p.Phe183Leu) n.2159T>G n.2132T>G | gnomAD v4 |
8 | g.141168264C>A | CA372344026 | DENND3 | c.2014C>A (p.Pro672Thr) c.1774C>A (p.Pro592Thr) c.1618C>A (p.Pro540Thr) c.1787C>A n.1555C>A c.1813C>A (p.Pro605Thr) c.1657C>A (p.Pro553Thr) c.1780C>A (p.Pro594Thr) c.1270C>A (p.Pro424Thr) c.1447C>A (p.Pro483Thr) c.1441C>A (p.Pro481Thr) c.982C>A (p.Pro328Thr) c.511C>A (p.Pro171Thr) n.1943C>A n.2110C>A c.1858C>A (p.Pro620Thr) c.550C>A (p.Pro184Thr) n.2160C>A n.2133C>A | |
8 | g.141168264C>G | CA372344027 | DENND3 | c.2014C>G (p.Pro672Ala) c.1774C>G (p.Pro592Ala) c.1618C>G (p.Pro540Ala) c.1787C>G n.1555C>G c.1813C>G (p.Pro605Ala) c.1657C>G (p.Pro553Ala) c.1780C>G (p.Pro594Ala) c.1270C>G (p.Pro424Ala) c.1447C>G (p.Pro483Ala) c.1441C>G (p.Pro481Ala) c.982C>G (p.Pro328Ala) c.511C>G (p.Pro171Ala) n.1943C>G n.2110C>G c.1858C>G (p.Pro620Ala) c.550C>G (p.Pro184Ala) n.2160C>G n.2133C>G | gnomAD v4 |
8 | g.141168264C>T | CA372344025 | DENND3 | c.2014C>T (p.Pro672Ser) c.1774C>T (p.Pro592Ser) c.1618C>T (p.Pro540Ser) c.1787C>T n.1555C>T c.1813C>T (p.Pro605Ser) c.1657C>T (p.Pro553Ser) c.1780C>T (p.Pro594Ser) c.1270C>T (p.Pro424Ser) c.1447C>T (p.Pro483Ser) c.1441C>T (p.Pro481Ser) c.982C>T (p.Pro328Ser) c.511C>T (p.Pro171Ser) n.1943C>T n.2110C>T c.1858C>T (p.Pro620Ser) c.550C>T (p.Pro184Ser) n.2160C>T n.2133C>T | |
8 | g.141168266dup | CA4896790 | DENND3 | c.2016dup (p.Thr673HisfsTer2) c.1776dup (p.Thr593HisfsTer2) c.1620dup (p.Thr541HisfsTer2) c.1789dup n.1557dup c.1815dup (p.Thr606HisfsTer2) c.1659dup (p.Thr554HisfsTer2) c.1782dup (p.Thr595HisfsTer2) c.1272dup (p.Thr425HisfsTer2) c.1449dup (p.Thr484HisfsTer2) c.1443dup (p.Thr482HisfsTer2) c.984dup (p.Thr329HisfsTer2) c.513dup (p.Thr172HisfsTer2) n.1945dup n.2112dup c.1860dup (p.Thr621HisfsTer2) c.552dup (p.Thr185HisfsTer2) n.2162dup n.2135dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168265C>A | CA372344028 | DENND3 | c.2015C>A (p.Pro672His) c.1775C>A (p.Pro592His) c.1619C>A (p.Pro540His) c.1788C>A n.1556C>A c.1814C>A (p.Pro605His) c.1658C>A (p.Pro553His) c.1781C>A (p.Pro594His) c.1271C>A (p.Pro424His) c.1448C>A (p.Pro483His) c.1442C>A (p.Pro481His) c.983C>A (p.Pro328His) c.512C>A (p.Pro171His) n.1944C>A n.2111C>A c.1859C>A (p.Pro620His) c.551C>A (p.Pro184His) n.2161C>A n.2134C>A | |
8 | g.141168265C>G | CA372344029 | DENND3 | c.2015C>G (p.Pro672Arg) c.1775C>G (p.Pro592Arg) c.1619C>G (p.Pro540Arg) c.1788C>G n.1556C>G c.1814C>G (p.Pro605Arg) c.1658C>G (p.Pro553Arg) c.1781C>G (p.Pro594Arg) c.1271C>G (p.Pro424Arg) c.1448C>G (p.Pro483Arg) c.1442C>G (p.Pro481Arg) c.983C>G (p.Pro328Arg) c.512C>G (p.Pro171Arg) n.1944C>G n.2111C>G c.1859C>G (p.Pro620Arg) c.551C>G (p.Pro184Arg) n.2161C>G n.2134C>G | |
8 | g.141168265C>T | CA372344030 | DENND3 | c.2015C>T (p.Pro672Leu) c.1775C>T (p.Pro592Leu) c.1619C>T (p.Pro540Leu) c.1788C>T n.1556C>T c.1814C>T (p.Pro605Leu) c.1658C>T (p.Pro553Leu) c.1781C>T (p.Pro594Leu) c.1271C>T (p.Pro424Leu) c.1448C>T (p.Pro483Leu) c.1442C>T (p.Pro481Leu) c.983C>T (p.Pro328Leu) c.512C>T (p.Pro171Leu) n.1944C>T n.2111C>T c.1859C>T (p.Pro620Leu) c.551C>T (p.Pro184Leu) n.2161C>T n.2134C>T | dbSNP |
8 | g.141168266C>A | CA463493761 | DENND3 | c.2016C>A (p.Pro672=) c.1776C>A (p.Pro592=) c.1620C>A (p.Pro540=) c.1789C>A n.1557C>A c.1815C>A (p.Pro605=) c.1659C>A (p.Pro553=) c.1782C>A (p.Pro594=) c.1272C>A (p.Pro424=) c.1449C>A (p.Pro483=) c.1443C>A (p.Pro481=) c.984C>A (p.Pro328=) c.513C>A (p.Pro171=) n.1945C>A n.2112C>A c.1860C>A (p.Pro620=) c.552C>A (p.Pro184=) n.2162C>A n.2135C>A | |
8 | g.141168266C>G | CA463493762 | DENND3 | c.2016C>G (p.Pro672=) c.1776C>G (p.Pro592=) c.1620C>G (p.Pro540=) c.1789C>G n.1557C>G c.1815C>G (p.Pro605=) c.1659C>G (p.Pro553=) c.1782C>G (p.Pro594=) c.1272C>G (p.Pro424=) c.1449C>G (p.Pro483=) c.1443C>G (p.Pro481=) c.984C>G (p.Pro328=) c.513C>G (p.Pro171=) n.1945C>G n.2112C>G c.1860C>G (p.Pro620=) c.552C>G (p.Pro184=) n.2162C>G n.2135C>G | |
8 | g.141168266C>T | CA463493764 | DENND3 | c.2016C>T (p.Pro672=) c.1776C>T (p.Pro592=) c.1620C>T (p.Pro540=) c.1789C>T n.1557C>T c.1815C>T (p.Pro605=) c.1659C>T (p.Pro553=) c.1782C>T (p.Pro594=) c.1272C>T (p.Pro424=) c.1449C>T (p.Pro483=) c.1443C>T (p.Pro481=) c.984C>T (p.Pro328=) c.513C>T (p.Pro171=) n.1945C>T n.2112C>T c.1860C>T (p.Pro620=) c.552C>T (p.Pro184=) n.2162C>T n.2135C>T | |
8 | g.141168267A>C | CA372344031 | DENND3 | c.2017A>C (p.Thr673Pro) c.1777A>C (p.Thr593Pro) c.1621A>C (p.Thr541Pro) c.1790A>C n.1558A>C c.1816A>C (p.Thr606Pro) c.1660A>C (p.Thr554Pro) c.1783A>C (p.Thr595Pro) c.1273A>C (p.Thr425Pro) c.1450A>C (p.Thr484Pro) c.1444A>C (p.Thr482Pro) c.985A>C (p.Thr329Pro) c.514A>C (p.Thr172Pro) n.1946A>C n.2113A>C c.1861A>C (p.Thr621Pro) c.553A>C (p.Thr185Pro) n.2163A>C n.2136A>C | |
8 | g.141168267A>G | CA372344032 | DENND3 | c.2017A>G (p.Thr673Ala) c.1777A>G (p.Thr593Ala) c.1621A>G (p.Thr541Ala) c.1790A>G n.1558A>G c.1816A>G (p.Thr606Ala) c.1660A>G (p.Thr554Ala) c.1783A>G (p.Thr595Ala) c.1273A>G (p.Thr425Ala) c.1450A>G (p.Thr484Ala) c.1444A>G (p.Thr482Ala) c.985A>G (p.Thr329Ala) c.514A>G (p.Thr172Ala) n.1946A>G n.2113A>G c.1861A>G (p.Thr621Ala) c.553A>G (p.Thr185Ala) n.2163A>G n.2136A>G | gnomAD v4 |
8 | g.141168267A>T | CA372344033 | DENND3 | c.2017A>T (p.Thr673Ser) c.1777A>T (p.Thr593Ser) c.1621A>T (p.Thr541Ser) c.1790A>T n.1558A>T c.1816A>T (p.Thr606Ser) c.1660A>T (p.Thr554Ser) c.1783A>T (p.Thr595Ser) c.1273A>T (p.Thr425Ser) c.1450A>T (p.Thr484Ser) c.1444A>T (p.Thr482Ser) c.985A>T (p.Thr329Ser) c.514A>T (p.Thr172Ser) n.1946A>T n.2113A>T c.1861A>T (p.Thr621Ser) c.553A>T (p.Thr185Ser) n.2163A>T n.2136A>T | |
8 | g.141168268C>A | CA372344034 | DENND3 | c.2018C>A (p.Thr673Asn) c.1778C>A (p.Thr593Asn) c.1622C>A (p.Thr541Asn) c.1791C>A n.1559C>A c.1817C>A (p.Thr606Asn) c.1661C>A (p.Thr554Asn) c.1784C>A (p.Thr595Asn) c.1274C>A (p.Thr425Asn) c.1451C>A (p.Thr484Asn) c.1445C>A (p.Thr482Asn) c.986C>A (p.Thr329Asn) c.515C>A (p.Thr172Asn) n.1947C>A n.2114C>A c.1862C>A (p.Thr621Asn) c.554C>A (p.Thr185Asn) n.2164C>A n.2137C>A | |
8 | g.141168268C>G | CA372344035 | DENND3 | c.2018C>G (p.Thr673Ser) c.1778C>G (p.Thr593Ser) c.1622C>G (p.Thr541Ser) c.1791C>G n.1559C>G c.1817C>G (p.Thr606Ser) c.1661C>G (p.Thr554Ser) c.1784C>G (p.Thr595Ser) c.1274C>G (p.Thr425Ser) c.1451C>G (p.Thr484Ser) c.1445C>G (p.Thr482Ser) c.986C>G (p.Thr329Ser) c.515C>G (p.Thr172Ser) n.1947C>G n.2114C>G c.1862C>G (p.Thr621Ser) c.554C>G (p.Thr185Ser) n.2164C>G n.2137C>G | |
8 | g.141168268C>T | CA372344036 | DENND3 | c.2018C>T (p.Thr673Ile) c.1778C>T (p.Thr593Ile) c.1622C>T (p.Thr541Ile) c.1791C>T n.1559C>T c.1817C>T (p.Thr606Ile) c.1661C>T (p.Thr554Ile) c.1784C>T (p.Thr595Ile) c.1274C>T (p.Thr425Ile) c.1451C>T (p.Thr484Ile) c.1445C>T (p.Thr482Ile) c.986C>T (p.Thr329Ile) c.515C>T (p.Thr172Ile) n.1947C>T n.2114C>T c.1862C>T (p.Thr621Ile) c.554C>T (p.Thr185Ile) n.2164C>T n.2137C>T | |
8 | g.141168269T>A | CA463493773 | DENND3 | c.2019T>A (p.Thr673=) c.1779T>A (p.Thr593=) c.1623T>A (p.Thr541=) c.1792T>A n.1560T>A c.1818T>A (p.Thr606=) c.1662T>A (p.Thr554=) c.1785T>A (p.Thr595=) c.1275T>A (p.Thr425=) c.1452T>A (p.Thr484=) c.1446T>A (p.Thr482=) c.987T>A (p.Thr329=) c.516T>A (p.Thr172=) n.1948T>A n.2115T>A c.1863T>A (p.Thr621=) c.555T>A (p.Thr185=) n.2165T>A n.2138T>A | |
8 | g.141168269T>C | CA463493775 | DENND3 | c.2019T>C (p.Thr673=) c.1779T>C (p.Thr593=) c.1623T>C (p.Thr541=) c.1792T>C n.1560T>C c.1818T>C (p.Thr606=) c.1662T>C (p.Thr554=) c.1785T>C (p.Thr595=) c.1275T>C (p.Thr425=) c.1452T>C (p.Thr484=) c.1446T>C (p.Thr482=) c.987T>C (p.Thr329=) c.516T>C (p.Thr172=) n.1948T>C n.2115T>C c.1863T>C (p.Thr621=) c.555T>C (p.Thr185=) n.2165T>C n.2138T>C | |
8 | g.141168269T>G | CA463493777 | DENND3 | c.2019T>G (p.Thr673=) c.1779T>G (p.Thr593=) c.1623T>G (p.Thr541=) c.1792T>G n.1560T>G c.1818T>G (p.Thr606=) c.1662T>G (p.Thr554=) c.1785T>G (p.Thr595=) c.1275T>G (p.Thr425=) c.1452T>G (p.Thr484=) c.1446T>G (p.Thr482=) c.987T>G (p.Thr329=) c.516T>G (p.Thr172=) n.1948T>G n.2115T>G c.1863T>G (p.Thr621=) c.555T>G (p.Thr185=) n.2165T>G n.2138T>G | gnomAD v4 |
8 | g.141168270G>A | CA372344037 | DENND3 | c.2020G>A (p.Asp674Asn) c.1780G>A (p.Asp594Asn) c.1624G>A (p.Asp542Asn) c.1793G>A n.1561G>A c.1819G>A (p.Asp607Asn) c.1663G>A (p.Asp555Asn) c.1786G>A (p.Asp596Asn) c.1276G>A (p.Asp426Asn) c.1453G>A (p.Asp485Asn) c.1447G>A (p.Asp483Asn) c.988G>A (p.Asp330Asn) c.517G>A (p.Asp173Asn) n.1949G>A n.2116G>A c.1864G>A (p.Asp622Asn) c.556G>A (p.Asp186Asn) n.2166G>A n.2139G>A | gnomAD v4 |
8 | g.141168270G>C | CA372344038 | DENND3 | c.2020G>C (p.Asp674His) c.1780G>C (p.Asp594His) c.1624G>C (p.Asp542His) c.1793G>C n.1561G>C c.1819G>C (p.Asp607His) c.1663G>C (p.Asp555His) c.1786G>C (p.Asp596His) c.1276G>C (p.Asp426His) c.1453G>C (p.Asp485His) c.1447G>C (p.Asp483His) c.988G>C (p.Asp330His) c.517G>C (p.Asp173His) n.1949G>C n.2116G>C c.1864G>C (p.Asp622His) c.556G>C (p.Asp186His) n.2166G>C n.2139G>C | |
8 | g.141168270G>T | CA372344039 | DENND3 | c.2020G>T (p.Asp674Tyr) c.1780G>T (p.Asp594Tyr) c.1624G>T (p.Asp542Tyr) c.1793G>T n.1561G>T c.1819G>T (p.Asp607Tyr) c.1663G>T (p.Asp555Tyr) c.1786G>T (p.Asp596Tyr) c.1276G>T (p.Asp426Tyr) c.1453G>T (p.Asp485Tyr) c.1447G>T (p.Asp483Tyr) c.988G>T (p.Asp330Tyr) c.517G>T (p.Asp173Tyr) n.1949G>T n.2116G>T c.1864G>T (p.Asp622Tyr) c.556G>T (p.Asp186Tyr) n.2166G>T n.2139G>T | |
8 | g.141168271A>C | CA372344042 | DENND3 | c.2021A>C (p.Asp674Ala) c.1781A>C (p.Asp594Ala) c.1625A>C (p.Asp542Ala) c.1794A>C n.1562A>C c.1820A>C (p.Asp607Ala) c.1664A>C (p.Asp555Ala) c.1787A>C (p.Asp596Ala) c.1277A>C (p.Asp426Ala) c.1454A>C (p.Asp485Ala) c.1448A>C (p.Asp483Ala) c.989A>C (p.Asp330Ala) c.518A>C (p.Asp173Ala) n.1950A>C n.2117A>C c.1865A>C (p.Asp622Ala) c.557A>C (p.Asp186Ala) n.2167A>C n.2140A>C | |
8 | g.141168271A>G | CA372344041 | DENND3 | c.2021A>G (p.Asp674Gly) c.1781A>G (p.Asp594Gly) c.1625A>G (p.Asp542Gly) c.1794A>G n.1562A>G c.1820A>G (p.Asp607Gly) c.1664A>G (p.Asp555Gly) c.1787A>G (p.Asp596Gly) c.1277A>G (p.Asp426Gly) c.1454A>G (p.Asp485Gly) c.1448A>G (p.Asp483Gly) c.989A>G (p.Asp330Gly) c.518A>G (p.Asp173Gly) n.1950A>G n.2117A>G c.1865A>G (p.Asp622Gly) c.557A>G (p.Asp186Gly) n.2167A>G n.2140A>G | |
8 | g.141168271A>T | CA372344040 | DENND3 | c.2021A>T (p.Asp674Val) c.1781A>T (p.Asp594Val) c.1625A>T (p.Asp542Val) c.1794A>T n.1562A>T c.1820A>T (p.Asp607Val) c.1664A>T (p.Asp555Val) c.1787A>T (p.Asp596Val) c.1277A>T (p.Asp426Val) c.1454A>T (p.Asp485Val) c.1448A>T (p.Asp483Val) c.989A>T (p.Asp330Val) c.518A>T (p.Asp173Val) n.1950A>T n.2117A>T c.1865A>T (p.Asp622Val) c.557A>T (p.Asp186Val) n.2167A>T n.2140A>T | |
8 | g.141168272T>A | CA372344043 | DENND3 | c.2022T>A (p.Asp674Glu) c.1782T>A (p.Asp594Glu) c.1626T>A (p.Asp542Glu) c.1795T>A n.1563T>A c.1821T>A (p.Asp607Glu) c.1665T>A (p.Asp555Glu) c.1788T>A (p.Asp596Glu) c.1278T>A (p.Asp426Glu) c.1455T>A (p.Asp485Glu) c.1449T>A (p.Asp483Glu) c.990T>A (p.Asp330Glu) c.519T>A (p.Asp173Glu) n.1951T>A n.2118T>A c.1866T>A (p.Asp622Glu) c.558T>A (p.Asp186Glu) n.2168T>A n.2141T>A | |
8 | g.141168272T>C | CA4896791 | DENND3 | c.2022T>C (p.Asp674=) c.1782T>C (p.Asp594=) c.1626T>C (p.Asp542=) c.1795T>C n.1563T>C c.1821T>C (p.Asp607=) c.1665T>C (p.Asp555=) c.1788T>C (p.Asp596=) c.1278T>C (p.Asp426=) c.1455T>C (p.Asp485=) c.1449T>C (p.Asp483=) c.990T>C (p.Asp330=) c.519T>C (p.Asp173=) n.1951T>C n.2118T>C c.1866T>C (p.Asp622=) c.558T>C (p.Asp186=) n.2168T>C n.2141T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168272T>G | CA372344044 | DENND3 | c.2022T>G (p.Asp674Glu) c.1782T>G (p.Asp594Glu) c.1626T>G (p.Asp542Glu) c.1795T>G n.1563T>G c.1821T>G (p.Asp607Glu) c.1665T>G (p.Asp555Glu) c.1788T>G (p.Asp596Glu) c.1278T>G (p.Asp426Glu) c.1455T>G (p.Asp485Glu) c.1449T>G (p.Asp483Glu) c.990T>G (p.Asp330Glu) c.519T>G (p.Asp173Glu) n.1951T>G n.2118T>G c.1866T>G (p.Asp622Glu) c.558T>G (p.Asp186Glu) n.2168T>G n.2141T>G | |
8 | g.141168273T>A | CA4896792 | DENND3 | c.2023T>A (p.Leu675Met) c.1783T>A (p.Leu595Met) c.1627T>A (p.Leu543Met) c.1796T>A n.1564T>A c.1822T>A (p.Leu608Met) c.1666T>A (p.Leu556Met) c.1789T>A (p.Leu597Met) c.1279T>A (p.Leu427Met) c.1456T>A (p.Leu486Met) c.1450T>A (p.Leu484Met) c.991T>A (p.Leu331Met) c.520T>A (p.Leu174Met) n.1952T>A n.2119T>A c.1867T>A (p.Leu623Met) c.559T>A (p.Leu187Met) n.2169T>A n.2142T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168273T>C | CA463493790 | DENND3 | c.2023T>C (p.Leu675=) c.1783T>C (p.Leu595=) c.1627T>C (p.Leu543=) c.1796T>C n.1564T>C c.1822T>C (p.Leu608=) c.1666T>C (p.Leu556=) c.1789T>C (p.Leu597=) c.1279T>C (p.Leu427=) c.1456T>C (p.Leu486=) c.1450T>C (p.Leu484=) c.991T>C (p.Leu331=) c.520T>C (p.Leu174=) n.1952T>C n.2119T>C c.1867T>C (p.Leu623=) c.559T>C (p.Leu187=) n.2169T>C n.2142T>C | |
8 | g.141168273T>G | CA372344045 | DENND3 | c.2023T>G (p.Leu675Val) c.1783T>G (p.Leu595Val) c.1627T>G (p.Leu543Val) c.1796T>G n.1564T>G c.1822T>G (p.Leu608Val) c.1666T>G (p.Leu556Val) c.1789T>G (p.Leu597Val) c.1279T>G (p.Leu427Val) c.1456T>G (p.Leu486Val) c.1450T>G (p.Leu484Val) c.991T>G (p.Leu331Val) c.520T>G (p.Leu174Val) n.1952T>G n.2119T>G c.1867T>G (p.Leu623Val) c.559T>G (p.Leu187Val) n.2169T>G n.2142T>G | |
8 | g.141168274T>A | CA372344046 | DENND3 | c.2024T>A (p.Leu675Ter) c.1784T>A (p.Leu595Ter) c.1628T>A (p.Leu543Ter) c.1797T>A n.1565T>A c.1823T>A (p.Leu608Ter) c.1667T>A (p.Leu556Ter) c.1790T>A (p.Leu597Ter) c.1280T>A (p.Leu427Ter) c.1457T>A (p.Leu486Ter) c.1451T>A (p.Leu484Ter) c.992T>A (p.Leu331Ter) c.521T>A (p.Leu174Ter) n.1953T>A n.2120T>A c.1868T>A (p.Leu623Ter) c.560T>A (p.Leu187Ter) n.2170T>A n.2143T>A | |
8 | g.141168274T>C | CA372344047 | DENND3 | c.2024T>C (p.Leu675Ser) c.1784T>C (p.Leu595Ser) c.1628T>C (p.Leu543Ser) c.1797T>C n.1565T>C c.1823T>C (p.Leu608Ser) c.1667T>C (p.Leu556Ser) c.1790T>C (p.Leu597Ser) c.1280T>C (p.Leu427Ser) c.1457T>C (p.Leu486Ser) c.1451T>C (p.Leu484Ser) c.992T>C (p.Leu331Ser) c.521T>C (p.Leu174Ser) n.1953T>C n.2120T>C c.1868T>C (p.Leu623Ser) c.560T>C (p.Leu187Ser) n.2170T>C n.2143T>C | |
8 | g.141168274T>G | CA372344048 | DENND3 | c.2024T>G (p.Leu675Trp) c.1784T>G (p.Leu595Trp) c.1628T>G (p.Leu543Trp) c.1797T>G n.1565T>G c.1823T>G (p.Leu608Trp) c.1667T>G (p.Leu556Trp) c.1790T>G (p.Leu597Trp) c.1280T>G (p.Leu427Trp) c.1457T>G (p.Leu486Trp) c.1451T>G (p.Leu484Trp) c.992T>G (p.Leu331Trp) c.521T>G (p.Leu174Trp) n.1953T>G n.2120T>G c.1868T>G (p.Leu623Trp) c.560T>G (p.Leu187Trp) n.2170T>G n.2143T>G | |
8 | g.141168275G>A | CA463493795 | DENND3 | c.2025G>A (p.Leu675=) c.1785G>A (p.Leu595=) c.1629G>A (p.Leu543=) c.1798G>A n.1566G>A c.1824G>A (p.Leu608=) c.1668G>A (p.Leu556=) c.1791G>A (p.Leu597=) c.1281G>A (p.Leu427=) c.1458G>A (p.Leu486=) c.1452G>A (p.Leu484=) c.993G>A (p.Leu331=) c.522G>A (p.Leu174=) n.1954G>A n.2121G>A c.1869G>A (p.Leu623=) c.561G>A (p.Leu187=) n.2171G>A n.2144G>A | |
8 | g.141168275G>C | CA372344049 | DENND3 | c.2025G>C (p.Leu675Phe) c.1785G>C (p.Leu595Phe) c.1629G>C (p.Leu543Phe) c.1798G>C n.1566G>C c.1824G>C (p.Leu608Phe) c.1668G>C (p.Leu556Phe) c.1791G>C (p.Leu597Phe) c.1281G>C (p.Leu427Phe) c.1458G>C (p.Leu486Phe) c.1452G>C (p.Leu484Phe) c.993G>C (p.Leu331Phe) c.522G>C (p.Leu174Phe) n.1954G>C n.2121G>C c.1869G>C (p.Leu623Phe) c.561G>C (p.Leu187Phe) n.2171G>C n.2144G>C | |
8 | g.141168275G>T | CA372344050 | DENND3 | c.2025G>T (p.Leu675Phe) c.1785G>T (p.Leu595Phe) c.1629G>T (p.Leu543Phe) c.1798G>T n.1566G>T c.1824G>T (p.Leu608Phe) c.1668G>T (p.Leu556Phe) c.1791G>T (p.Leu597Phe) c.1281G>T (p.Leu427Phe) c.1458G>T (p.Leu486Phe) c.1452G>T (p.Leu484Phe) c.993G>T (p.Leu331Phe) c.522G>T (p.Leu174Phe) n.1954G>T n.2121G>T c.1869G>T (p.Leu623Phe) c.561G>T (p.Leu187Phe) n.2171G>T n.2144G>T | |
8 | g.141168276G>A | CA4896793 | DENND3 | c.2026G>A (p.Val676Met) c.1786G>A (p.Val596Met) c.1630G>A (p.Val544Met) c.1799G>A n.1567G>A c.1825G>A (p.Val609Met) c.1669G>A (p.Val557Met) c.1792G>A (p.Val598Met) c.1282G>A (p.Val428Met) c.1459G>A (p.Val487Met) c.1453G>A (p.Val485Met) c.994G>A (p.Val332Met) c.523G>A (p.Val175Met) n.1955G>A n.2122G>A c.1870G>A (p.Val624Met) c.562G>A (p.Val188Met) n.2172G>A n.2145G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168276G>C | CA372344051 | DENND3 | c.2026G>C (p.Val676Leu) c.1786G>C (p.Val596Leu) c.1630G>C (p.Val544Leu) c.1799G>C n.1567G>C c.1825G>C (p.Val609Leu) c.1669G>C (p.Val557Leu) c.1792G>C (p.Val598Leu) c.1282G>C (p.Val428Leu) c.1459G>C (p.Val487Leu) c.1453G>C (p.Val485Leu) c.994G>C (p.Val332Leu) c.523G>C (p.Val175Leu) n.1955G>C n.2122G>C c.1870G>C (p.Val624Leu) c.562G>C (p.Val188Leu) n.2172G>C n.2145G>C | |
8 | g.141168276G>T | CA372344052 | DENND3 | c.2026G>T (p.Val676Leu) c.1786G>T (p.Val596Leu) c.1630G>T (p.Val544Leu) c.1799G>T n.1567G>T c.1825G>T (p.Val609Leu) c.1669G>T (p.Val557Leu) c.1792G>T (p.Val598Leu) c.1282G>T (p.Val428Leu) c.1459G>T (p.Val487Leu) c.1453G>T (p.Val485Leu) c.994G>T (p.Val332Leu) c.523G>T (p.Val175Leu) n.1955G>T n.2122G>T c.1870G>T (p.Val624Leu) c.562G>T (p.Val188Leu) n.2172G>T n.2145G>T | |
8 | g.141168277T>A | CA372344054 | DENND3 | c.2027T>A (p.Val676Glu) c.1787T>A (p.Val596Glu) c.1631T>A (p.Val544Glu) c.1800T>A n.1568T>A c.1826T>A (p.Val609Glu) c.1670T>A (p.Val557Glu) c.1793T>A (p.Val598Glu) c.1283T>A (p.Val428Glu) c.1460T>A (p.Val487Glu) c.1454T>A (p.Val485Glu) c.995T>A (p.Val332Glu) c.524T>A (p.Val175Glu) n.1956T>A n.2123T>A c.1871T>A (p.Val624Glu) c.563T>A (p.Val188Glu) n.2173T>A n.2146T>A | |
8 | g.141168277T>C | CA372344055 | DENND3 | c.2027T>C (p.Val676Ala) c.1787T>C (p.Val596Ala) c.1631T>C (p.Val544Ala) c.1800T>C n.1568T>C c.1826T>C (p.Val609Ala) c.1670T>C (p.Val557Ala) c.1793T>C (p.Val598Ala) c.1283T>C (p.Val428Ala) c.1460T>C (p.Val487Ala) c.1454T>C (p.Val485Ala) c.995T>C (p.Val332Ala) c.524T>C (p.Val175Ala) n.1956T>C n.2123T>C c.1871T>C (p.Val624Ala) c.563T>C (p.Val188Ala) n.2173T>C n.2146T>C | |
8 | g.141168277T>G | CA372344053 | DENND3 | c.2027T>G (p.Val676Gly) c.1787T>G (p.Val596Gly) c.1631T>G (p.Val544Gly) c.1800T>G n.1568T>G c.1826T>G (p.Val609Gly) c.1670T>G (p.Val557Gly) c.1793T>G (p.Val598Gly) c.1283T>G (p.Val428Gly) c.1460T>G (p.Val487Gly) c.1454T>G (p.Val485Gly) c.995T>G (p.Val332Gly) c.524T>G (p.Val175Gly) n.1956T>G n.2123T>G c.1871T>G (p.Val624Gly) c.563T>G (p.Val188Gly) n.2173T>G n.2146T>G | |
8 | g.141168278G>A | CA4896794 | DENND3 | c.2028G>A (p.Val676=) c.1788G>A (p.Val596=) c.1632G>A (p.Val544=) c.1801G>A n.1569G>A c.1827G>A (p.Val609=) c.1671G>A (p.Val557=) c.1794G>A (p.Val598=) c.1284G>A (p.Val428=) c.1461G>A (p.Val487=) c.1455G>A (p.Val485=) c.996G>A (p.Val332=) c.525G>A (p.Val175=) n.1957G>A n.2124G>A c.1872G>A (p.Val624=) c.564G>A (p.Val188=) n.2174G>A n.2147G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168278G>C | CA463493826 | DENND3 | c.2028G>C (p.Val676=) c.1788G>C (p.Val596=) c.1632G>C (p.Val544=) c.1801G>C n.1569G>C c.1827G>C (p.Val609=) c.1671G>C (p.Val557=) c.1794G>C (p.Val598=) c.1284G>C (p.Val428=) c.1461G>C (p.Val487=) c.1455G>C (p.Val485=) c.996G>C (p.Val332=) c.525G>C (p.Val175=) n.1957G>C n.2124G>C c.1872G>C (p.Val624=) c.564G>C (p.Val188=) n.2174G>C n.2147G>C | |
8 | g.141168278G>T | CA463493829 | DENND3 | c.2028G>T (p.Val676=) c.1788G>T (p.Val596=) c.1632G>T (p.Val544=) c.1801G>T n.1569G>T c.1827G>T (p.Val609=) c.1671G>T (p.Val557=) c.1794G>T (p.Val598=) c.1284G>T (p.Val428=) c.1461G>T (p.Val487=) c.1455G>T (p.Val485=) c.996G>T (p.Val332=) c.525G>T (p.Val175=) n.1957G>T n.2124G>T c.1872G>T (p.Val624=) c.564G>T (p.Val188=) n.2174G>T n.2147G>T | dbSNP |
8 | g.141168279A>C | CA372344056 | DENND3 | c.2029A>C (p.Lys677Gln) c.1789A>C (p.Lys597Gln) c.1633A>C (p.Lys545Gln) c.1802A>C n.1570A>C c.1828A>C (p.Lys610Gln) c.1672A>C (p.Lys558Gln) c.1795A>C (p.Lys599Gln) c.1285A>C (p.Lys429Gln) c.1462A>C (p.Lys488Gln) c.1456A>C (p.Lys486Gln) c.997A>C (p.Lys333Gln) c.526A>C (p.Lys176Gln) n.1958A>C n.2125A>C c.1873A>C (p.Lys625Gln) c.565A>C (p.Lys189Gln) n.2175A>C n.2148A>C | |
8 | g.141168279A>G | CA372344057 | DENND3 | c.2029A>G (p.Lys677Glu) c.1789A>G (p.Lys597Glu) c.1633A>G (p.Lys545Glu) c.1802A>G n.1570A>G c.1828A>G (p.Lys610Glu) c.1672A>G (p.Lys558Glu) c.1795A>G (p.Lys599Glu) c.1285A>G (p.Lys429Glu) c.1462A>G (p.Lys488Glu) c.1456A>G (p.Lys486Glu) c.997A>G (p.Lys333Glu) c.526A>G (p.Lys176Glu) n.1958A>G n.2125A>G c.1873A>G (p.Lys625Glu) c.565A>G (p.Lys189Glu) n.2175A>G n.2148A>G | |
8 | g.141168279A>T | CA372344058 | DENND3 | c.2029A>T (p.Lys677Ter) c.1789A>T (p.Lys597Ter) c.1633A>T (p.Lys545Ter) c.1802A>T n.1570A>T c.1828A>T (p.Lys610Ter) c.1672A>T (p.Lys558Ter) c.1795A>T (p.Lys599Ter) c.1285A>T (p.Lys429Ter) c.1462A>T (p.Lys488Ter) c.1456A>T (p.Lys486Ter) c.997A>T (p.Lys333Ter) c.526A>T (p.Lys176Ter) n.1958A>T n.2125A>T c.1873A>T (p.Lys625Ter) c.565A>T (p.Lys189Ter) n.2175A>T n.2148A>T | |
8 | g.141168280A>C | CA372344059 | DENND3 | c.2030A>C (p.Lys677Thr) c.1790A>C (p.Lys597Thr) c.1634A>C (p.Lys545Thr) c.1803A>C n.1571A>C c.1829A>C (p.Lys610Thr) c.1673A>C (p.Lys558Thr) c.1796A>C (p.Lys599Thr) c.1286A>C (p.Lys429Thr) c.1463A>C (p.Lys488Thr) c.1457A>C (p.Lys486Thr) c.998A>C (p.Lys333Thr) c.527A>C (p.Lys176Thr) n.1959A>C n.2126A>C c.1874A>C (p.Lys625Thr) c.566A>C (p.Lys189Thr) n.2176A>C n.2149A>C | |
8 | g.141168280A>G | CA372344060 | DENND3 | c.2030A>G (p.Lys677Arg) c.1790A>G (p.Lys597Arg) c.1634A>G (p.Lys545Arg) c.1803A>G n.1571A>G c.1829A>G (p.Lys610Arg) c.1673A>G (p.Lys558Arg) c.1796A>G (p.Lys599Arg) c.1286A>G (p.Lys429Arg) c.1463A>G (p.Lys488Arg) c.1457A>G (p.Lys486Arg) c.998A>G (p.Lys333Arg) c.527A>G (p.Lys176Arg) n.1959A>G n.2126A>G c.1874A>G (p.Lys625Arg) c.566A>G (p.Lys189Arg) n.2176A>G n.2149A>G | |
8 | g.141168280A>T | CA372344061 | DENND3 | c.2030A>T (p.Lys677Met) c.1790A>T (p.Lys597Met) c.1634A>T (p.Lys545Met) c.1803A>T n.1571A>T c.1829A>T (p.Lys610Met) c.1673A>T (p.Lys558Met) c.1796A>T (p.Lys599Met) c.1286A>T (p.Lys429Met) c.1463A>T (p.Lys488Met) c.1457A>T (p.Lys486Met) c.998A>T (p.Lys333Met) c.527A>T (p.Lys176Met) n.1959A>T n.2126A>T c.1874A>T (p.Lys625Met) c.566A>T (p.Lys189Met) n.2176A>T n.2149A>T | |
8 | g.141168281G>A | CA463493839 | DENND3 | c.2031G>A (p.Lys677=) c.1791G>A (p.Lys597=) c.1635G>A (p.Lys545=) c.1804G>A n.1572G>A c.1830G>A (p.Lys610=) c.1674G>A (p.Lys558=) c.1797G>A (p.Lys599=) c.1287G>A (p.Lys429=) c.1464G>A (p.Lys488=) c.1458G>A (p.Lys486=) c.999G>A (p.Lys333=) c.528G>A (p.Lys176=) n.1960G>A n.2127G>A c.1875G>A (p.Lys625=) c.567G>A (p.Lys189=) n.2177G>A n.2150G>A | |
8 | g.141168281G>C | CA372344062 | DENND3 | c.2031G>C (p.Lys677Asn) c.1791G>C (p.Lys597Asn) c.1635G>C (p.Lys545Asn) c.1804G>C n.1572G>C c.1830G>C (p.Lys610Asn) c.1674G>C (p.Lys558Asn) c.1797G>C (p.Lys599Asn) c.1287G>C (p.Lys429Asn) c.1464G>C (p.Lys488Asn) c.1458G>C (p.Lys486Asn) c.999G>C (p.Lys333Asn) c.528G>C (p.Lys176Asn) n.1960G>C n.2127G>C c.1875G>C (p.Lys625Asn) c.567G>C (p.Lys189Asn) n.2177G>C n.2150G>C | |
8 | g.141168281G>T | CA372344063 | DENND3 | c.2031G>T (p.Lys677Asn) c.1791G>T (p.Lys597Asn) c.1635G>T (p.Lys545Asn) c.1804G>T n.1572G>T c.1830G>T (p.Lys610Asn) c.1674G>T (p.Lys558Asn) c.1797G>T (p.Lys599Asn) c.1287G>T (p.Lys429Asn) c.1464G>T (p.Lys488Asn) c.1458G>T (p.Lys486Asn) c.999G>T (p.Lys333Asn) c.528G>T (p.Lys176Asn) n.1960G>T n.2127G>T c.1875G>T (p.Lys625Asn) c.567G>T (p.Lys189Asn) n.2177G>T n.2150G>T | |
8 | g.141168282A>C | CA463493844 | DENND3 | c.2032A>C (p.Arg678=) c.1792A>C (p.Arg598=) c.1636A>C (p.Arg546=) c.1805A>C n.1573A>C c.1831A>C (p.Arg611=) c.1675A>C (p.Arg559=) c.1798A>C (p.Arg600=) c.1288A>C (p.Arg430=) c.1465A>C (p.Arg489=) c.1459A>C (p.Arg487=) c.1000A>C (p.Arg334=) c.529A>C (p.Arg177=) n.1961A>C n.2128A>C c.1876A>C (p.Arg626=) c.568A>C (p.Arg190=) n.2178A>C n.2151A>C | |
8 | g.141168282A>G | CA372344064 | DENND3 | c.2032A>G (p.Arg678Gly) c.1792A>G (p.Arg598Gly) c.1636A>G (p.Arg546Gly) c.1805A>G n.1573A>G c.1831A>G (p.Arg611Gly) c.1675A>G (p.Arg559Gly) c.1798A>G (p.Arg600Gly) c.1288A>G (p.Arg430Gly) c.1465A>G (p.Arg489Gly) c.1459A>G (p.Arg487Gly) c.1000A>G (p.Arg334Gly) c.529A>G (p.Arg177Gly) n.1961A>G n.2128A>G c.1876A>G (p.Arg626Gly) c.568A>G (p.Arg190Gly) n.2178A>G n.2151A>G | |
8 | g.141168282A>T | CA372344065 | DENND3 | c.2032A>T (p.Arg678Trp) c.1792A>T (p.Arg598Trp) c.1636A>T (p.Arg546Trp) c.1805A>T n.1573A>T c.1831A>T (p.Arg611Trp) c.1675A>T (p.Arg559Trp) c.1798A>T (p.Arg600Trp) c.1288A>T (p.Arg430Trp) c.1465A>T (p.Arg489Trp) c.1459A>T (p.Arg487Trp) c.1000A>T (p.Arg334Trp) c.529A>T (p.Arg177Trp) n.1961A>T n.2128A>T c.1876A>T (p.Arg626Trp) c.568A>T (p.Arg190Trp) n.2178A>T n.2151A>T | |
8 | g.141168283G>A | CA372344068 | DENND3 | c.2033G>A (p.Arg678Lys) c.1793G>A (p.Arg598Lys) c.1637G>A (p.Arg546Lys) c.1806G>A n.1574G>A c.1832G>A (p.Arg611Lys) c.1676G>A (p.Arg559Lys) c.1799G>A (p.Arg600Lys) c.1289G>A (p.Arg430Lys) c.1466G>A (p.Arg489Lys) c.1460G>A (p.Arg487Lys) c.1001G>A (p.Arg334Lys) c.530G>A (p.Arg177Lys) n.1962G>A n.2129G>A c.1877G>A (p.Arg626Lys) c.569G>A (p.Arg190Lys) n.2179G>A n.2152G>A | gnomAD v4 |
8 | g.141168283G>C | CA372344067 | DENND3 | c.2033G>C (p.Arg678Thr) c.1793G>C (p.Arg598Thr) c.1637G>C (p.Arg546Thr) c.1806G>C n.1574G>C c.1832G>C (p.Arg611Thr) c.1676G>C (p.Arg559Thr) c.1799G>C (p.Arg600Thr) c.1289G>C (p.Arg430Thr) c.1466G>C (p.Arg489Thr) c.1460G>C (p.Arg487Thr) c.1001G>C (p.Arg334Thr) c.530G>C (p.Arg177Thr) n.1962G>C n.2129G>C c.1877G>C (p.Arg626Thr) c.569G>C (p.Arg190Thr) n.2179G>C n.2152G>C | |
8 | g.141168283G>T | CA372344066 | DENND3 | c.2033G>T (p.Arg678Met) c.1793G>T (p.Arg598Met) c.1637G>T (p.Arg546Met) c.1806G>T n.1574G>T c.1832G>T (p.Arg611Met) c.1676G>T (p.Arg559Met) c.1799G>T (p.Arg600Met) c.1289G>T (p.Arg430Met) c.1466G>T (p.Arg489Met) c.1460G>T (p.Arg487Met) c.1001G>T (p.Arg334Met) c.530G>T (p.Arg177Met) n.1962G>T n.2129G>T c.1877G>T (p.Arg626Met) c.569G>T (p.Arg190Met) n.2179G>T n.2152G>T | |
8 | g.141168284G>A | CA463493852 | DENND3 | c.2034G>A (p.Arg678=) c.1794G>A (p.Arg598=) c.1638G>A (p.Arg546=) c.1807G>A n.1575G>A c.1833G>A (p.Arg611=) c.1677G>A (p.Arg559=) c.1800G>A (p.Arg600=) c.1290G>A (p.Arg430=) c.1467G>A (p.Arg489=) c.1461G>A (p.Arg487=) c.1002G>A (p.Arg334=) c.531G>A (p.Arg177=) n.1963G>A n.2130G>A c.1878G>A (p.Arg626=) c.570G>A (p.Arg190=) n.2180G>A n.2153G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168284G>C | CA372344069 | DENND3 | c.2034G>C (p.Arg678Ser) c.1794G>C (p.Arg598Ser) c.1638G>C (p.Arg546Ser) c.1807G>C n.1575G>C c.1833G>C (p.Arg611Ser) c.1677G>C (p.Arg559Ser) c.1800G>C (p.Arg600Ser) c.1290G>C (p.Arg430Ser) c.1467G>C (p.Arg489Ser) c.1461G>C (p.Arg487Ser) c.1002G>C (p.Arg334Ser) c.531G>C (p.Arg177Ser) n.1963G>C n.2130G>C c.1878G>C (p.Arg626Ser) c.570G>C (p.Arg190Ser) n.2180G>C n.2153G>C | |
8 | g.141168284G>T | CA372344070 | DENND3 | c.2034G>T (p.Arg678Ser) c.1794G>T (p.Arg598Ser) c.1638G>T (p.Arg546Ser) c.1807G>T n.1575G>T c.1833G>T (p.Arg611Ser) c.1677G>T (p.Arg559Ser) c.1800G>T (p.Arg600Ser) c.1290G>T (p.Arg430Ser) c.1467G>T (p.Arg489Ser) c.1461G>T (p.Arg487Ser) c.1002G>T (p.Arg334Ser) c.531G>T (p.Arg177Ser) n.1963G>T n.2130G>T c.1878G>T (p.Arg626Ser) c.570G>T (p.Arg190Ser) n.2180G>T n.2153G>T | |
8 | g.141168285A>C | CA372344071 | DENND3 | c.2035A>C (p.Thr679Pro) c.1795A>C (p.Thr599Pro) c.1639A>C (p.Thr547Pro) c.1808A>C n.1576A>C c.1834A>C (p.Thr612Pro) c.1678A>C (p.Thr560Pro) c.1801A>C (p.Thr601Pro) c.1291A>C (p.Thr431Pro) c.1468A>C (p.Thr490Pro) c.1462A>C (p.Thr488Pro) c.1003A>C (p.Thr335Pro) c.532A>C (p.Thr178Pro) n.1964A>C n.2131A>C c.1879A>C (p.Thr627Pro) c.571A>C (p.Thr191Pro) n.2181A>C n.2154A>C | |
8 | g.141168285A>G | CA372344072 | DENND3 | c.2035A>G (p.Thr679Ala) c.1795A>G (p.Thr599Ala) c.1639A>G (p.Thr547Ala) c.1808A>G n.1576A>G c.1834A>G (p.Thr612Ala) c.1678A>G (p.Thr560Ala) c.1801A>G (p.Thr601Ala) c.1291A>G (p.Thr431Ala) c.1468A>G (p.Thr490Ala) c.1462A>G (p.Thr488Ala) c.1003A>G (p.Thr335Ala) c.532A>G (p.Thr178Ala) n.1964A>G n.2131A>G c.1879A>G (p.Thr627Ala) c.571A>G (p.Thr191Ala) n.2181A>G n.2154A>G | |
8 | g.141168285A>T | CA372344073 | DENND3 | c.2035A>T (p.Thr679Ser) c.1795A>T (p.Thr599Ser) c.1639A>T (p.Thr547Ser) c.1808A>T n.1576A>T c.1834A>T (p.Thr612Ser) c.1678A>T (p.Thr560Ser) c.1801A>T (p.Thr601Ser) c.1291A>T (p.Thr431Ser) c.1468A>T (p.Thr490Ser) c.1462A>T (p.Thr488Ser) c.1003A>T (p.Thr335Ser) c.532A>T (p.Thr178Ser) n.1964A>T n.2131A>T c.1879A>T (p.Thr627Ser) c.571A>T (p.Thr191Ser) n.2181A>T n.2154A>T | |
8 | g.141168286C>A | CA372344074 | DENND3 | c.2036C>A (p.Thr679Lys) c.1796C>A (p.Thr599Lys) c.1640C>A (p.Thr547Lys) c.1809C>A n.1577C>A c.1835C>A (p.Thr612Lys) c.1679C>A (p.Thr560Lys) c.1802C>A (p.Thr601Lys) c.1292C>A (p.Thr431Lys) c.1469C>A (p.Thr490Lys) c.1463C>A (p.Thr488Lys) c.1004C>A (p.Thr335Lys) c.533C>A (p.Thr178Lys) n.1965C>A n.2132C>A c.1880C>A (p.Thr627Lys) c.572C>A (p.Thr191Lys) n.2182C>A n.2155C>A | |
8 | g.141168286C>G | CA372344075 | DENND3 | c.2036C>G (p.Thr679Arg) c.1796C>G (p.Thr599Arg) c.1640C>G (p.Thr547Arg) c.1809C>G n.1577C>G c.1835C>G (p.Thr612Arg) c.1679C>G (p.Thr560Arg) c.1802C>G (p.Thr601Arg) c.1292C>G (p.Thr431Arg) c.1469C>G (p.Thr490Arg) c.1463C>G (p.Thr488Arg) c.1004C>G (p.Thr335Arg) c.533C>G (p.Thr178Arg) n.1965C>G n.2132C>G c.1880C>G (p.Thr627Arg) c.572C>G (p.Thr191Arg) n.2182C>G n.2155C>G | |
8 | g.141168286C>T | CA4896795 | DENND3 | c.2036C>T (p.Thr679Met) c.1796C>T (p.Thr599Met) c.1640C>T (p.Thr547Met) c.1809C>T n.1577C>T c.1835C>T (p.Thr612Met) c.1679C>T (p.Thr560Met) c.1802C>T (p.Thr601Met) c.1292C>T (p.Thr431Met) c.1469C>T (p.Thr490Met) c.1463C>T (p.Thr488Met) c.1004C>T (p.Thr335Met) c.533C>T (p.Thr178Met) n.1965C>T n.2132C>T c.1880C>T (p.Thr627Met) c.572C>T (p.Thr191Met) n.2182C>T n.2155C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168287G>A | CA4896796 | DENND3 | c.2037G>A (p.Thr679=) c.1797G>A (p.Thr599=) c.1641G>A (p.Thr547=) c.1810G>A n.1578G>A c.1836G>A (p.Thr612=) c.1680G>A (p.Thr560=) c.1803G>A (p.Thr601=) c.1293G>A (p.Thr431=) c.1470G>A (p.Thr490=) c.1464G>A (p.Thr488=) c.1005G>A (p.Thr335=) c.534G>A (p.Thr178=) n.1966G>A n.2133G>A c.1881G>A (p.Thr627=) c.573G>A (p.Thr191=) n.2183G>A n.2156G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168287G>C | CA463493864 | DENND3 | c.2037G>C (p.Thr679=) c.1797G>C (p.Thr599=) c.1641G>C (p.Thr547=) c.1810G>C n.1578G>C c.1836G>C (p.Thr612=) c.1680G>C (p.Thr560=) c.1803G>C (p.Thr601=) c.1293G>C (p.Thr431=) c.1470G>C (p.Thr490=) c.1464G>C (p.Thr488=) c.1005G>C (p.Thr335=) c.534G>C (p.Thr178=) n.1966G>C n.2133G>C c.1881G>C (p.Thr627=) c.573G>C (p.Thr191=) n.2183G>C n.2156G>C | |
8 | g.141168287G>T | CA463493866 | DENND3 | c.2037G>T (p.Thr679=) c.1797G>T (p.Thr599=) c.1641G>T (p.Thr547=) c.1810G>T n.1578G>T c.1836G>T (p.Thr612=) c.1680G>T (p.Thr560=) c.1803G>T (p.Thr601=) c.1293G>T (p.Thr431=) c.1470G>T (p.Thr490=) c.1464G>T (p.Thr488=) c.1005G>T (p.Thr335=) c.534G>T (p.Thr178=) n.1966G>T n.2133G>T c.1881G>T (p.Thr627=) c.573G>T (p.Thr191=) n.2183G>T n.2156G>T | gnomAD v4 |
8 | g.141168288G>A | CA372344076 | DENND3 | c.2038G>A (p.Val680Met) c.1798G>A (p.Val600Met) c.1642G>A (p.Val548Met) c.1811G>A n.1579G>A c.1837G>A (p.Val613Met) c.1681G>A (p.Val561Met) c.1804G>A (p.Val602Met) c.1294G>A (p.Val432Met) c.1471G>A (p.Val491Met) c.1465G>A (p.Val489Met) c.1006G>A (p.Val336Met) c.535G>A (p.Val179Met) n.1967G>A n.2134G>A c.1882G>A (p.Val628Met) c.574G>A (p.Val192Met) n.2184G>A n.2157G>A | COSMIC |
8 | g.141168288G>C | CA372344077 | DENND3 | c.2038G>C (p.Val680Leu) c.1798G>C (p.Val600Leu) c.1642G>C (p.Val548Leu) c.1811G>C n.1579G>C c.1837G>C (p.Val613Leu) c.1681G>C (p.Val561Leu) c.1804G>C (p.Val602Leu) c.1294G>C (p.Val432Leu) c.1471G>C (p.Val491Leu) c.1465G>C (p.Val489Leu) c.1006G>C (p.Val336Leu) c.535G>C (p.Val179Leu) n.1967G>C n.2134G>C c.1882G>C (p.Val628Leu) c.574G>C (p.Val192Leu) n.2184G>C n.2157G>C | |
8 | g.141168288G>T | CA372344078 | DENND3 | c.2038G>T (p.Val680Leu) c.1798G>T (p.Val600Leu) c.1642G>T (p.Val548Leu) c.1811G>T n.1579G>T c.1837G>T (p.Val613Leu) c.1681G>T (p.Val561Leu) c.1804G>T (p.Val602Leu) c.1294G>T (p.Val432Leu) c.1471G>T (p.Val491Leu) c.1465G>T (p.Val489Leu) c.1006G>T (p.Val336Leu) c.535G>T (p.Val179Leu) n.1967G>T n.2134G>T c.1882G>T (p.Val628Leu) c.574G>T (p.Val192Leu) n.2184G>T n.2157G>T | |
8 | g.141168289T>A | CA372344081 | DENND3 | c.2039T>A (p.Val680Glu) c.1799T>A (p.Val600Glu) c.1643T>A (p.Val548Glu) c.1812T>A n.1580T>A c.1838T>A (p.Val613Glu) c.1682T>A (p.Val561Glu) c.1805T>A (p.Val602Glu) c.1295T>A (p.Val432Glu) c.1472T>A (p.Val491Glu) c.1466T>A (p.Val489Glu) c.1007T>A (p.Val336Glu) c.536T>A (p.Val179Glu) n.1968T>A n.2135T>A c.1883T>A (p.Val628Glu) c.575T>A (p.Val192Glu) n.2185T>A n.2158T>A | |
8 | g.141168289T>C | CA372344080 | DENND3 | c.2039T>C (p.Val680Ala) c.1799T>C (p.Val600Ala) c.1643T>C (p.Val548Ala) c.1812T>C n.1580T>C c.1838T>C (p.Val613Ala) c.1682T>C (p.Val561Ala) c.1805T>C (p.Val602Ala) c.1295T>C (p.Val432Ala) c.1472T>C (p.Val491Ala) c.1466T>C (p.Val489Ala) c.1007T>C (p.Val336Ala) c.536T>C (p.Val179Ala) n.1968T>C n.2135T>C c.1883T>C (p.Val628Ala) c.575T>C (p.Val192Ala) n.2185T>C n.2158T>C | |
8 | g.141168289T>G | CA372344079 | DENND3 | c.2039T>G (p.Val680Gly) c.1799T>G (p.Val600Gly) c.1643T>G (p.Val548Gly) c.1812T>G n.1580T>G c.1838T>G (p.Val613Gly) c.1682T>G (p.Val561Gly) c.1805T>G (p.Val602Gly) c.1295T>G (p.Val432Gly) c.1472T>G (p.Val491Gly) c.1466T>G (p.Val489Gly) c.1007T>G (p.Val336Gly) c.536T>G (p.Val179Gly) n.1968T>G n.2135T>G c.1883T>G (p.Val628Gly) c.575T>G (p.Val192Gly) n.2185T>G n.2158T>G | |
8 | g.141168290G>A | CA463493876 | DENND3 | c.2040G>A (p.Val680=) c.1800G>A (p.Val600=) c.1644G>A (p.Val548=) c.1813G>A n.1581G>A c.1839G>A (p.Val613=) c.1683G>A (p.Val561=) c.1806G>A (p.Val602=) c.1296G>A (p.Val432=) c.1473G>A (p.Val491=) c.1467G>A (p.Val489=) c.1008G>A (p.Val336=) c.537G>A (p.Val179=) n.1969G>A n.2136G>A c.1884G>A (p.Val628=) c.576G>A (p.Val192=) n.2186G>A n.2159G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168290G>C | CA463493878 | DENND3 | c.2040G>C (p.Val680=) c.1800G>C (p.Val600=) c.1644G>C (p.Val548=) c.1813G>C n.1581G>C c.1839G>C (p.Val613=) c.1683G>C (p.Val561=) c.1806G>C (p.Val602=) c.1296G>C (p.Val432=) c.1473G>C (p.Val491=) c.1467G>C (p.Val489=) c.1008G>C (p.Val336=) c.537G>C (p.Val179=) n.1969G>C n.2136G>C c.1884G>C (p.Val628=) c.576G>C (p.Val192=) n.2186G>C n.2159G>C | |
8 | g.141168290G>T | CA463493880 | DENND3 | c.2040G>T (p.Val680=) c.1800G>T (p.Val600=) c.1644G>T (p.Val548=) c.1813G>T n.1581G>T c.1839G>T (p.Val613=) c.1683G>T (p.Val561=) c.1806G>T (p.Val602=) c.1296G>T (p.Val432=) c.1473G>T (p.Val491=) c.1467G>T (p.Val489=) c.1008G>T (p.Val336=) c.537G>T (p.Val179=) n.1969G>T n.2136G>T c.1884G>T (p.Val628=) c.576G>T (p.Val192=) n.2186G>T n.2159G>T | |
8 | g.141168291G>A | CA372344083 | DENND3 | c.2041G>A (p.Glu681Lys) c.1801G>A (p.Glu601Lys) c.1645G>A (p.Glu549Lys) c.1814G>A n.1582G>A c.1840G>A (p.Glu614Lys) c.1684G>A (p.Glu562Lys) c.1807G>A (p.Glu603Lys) c.1297G>A (p.Glu433Lys) c.1474G>A (p.Glu492Lys) c.1468G>A (p.Glu490Lys) c.1009G>A (p.Glu337Lys) c.538G>A (p.Glu180Lys) n.1970G>A n.2137G>A c.1885G>A (p.Glu629Lys) c.577G>A (p.Glu193Lys) n.2187G>A n.2160G>A | |
8 | g.141168291G>C | CA372344082 | DENND3 | c.2041G>C (p.Glu681Gln) c.1801G>C (p.Glu601Gln) c.1645G>C (p.Glu549Gln) c.1814G>C n.1582G>C c.1840G>C (p.Glu614Gln) c.1684G>C (p.Glu562Gln) c.1807G>C (p.Glu603Gln) c.1297G>C (p.Glu433Gln) c.1474G>C (p.Glu492Gln) c.1468G>C (p.Glu490Gln) c.1009G>C (p.Glu337Gln) c.538G>C (p.Glu180Gln) n.1970G>C n.2137G>C c.1885G>C (p.Glu629Gln) c.577G>C (p.Glu193Gln) n.2187G>C n.2160G>C | |
8 | g.141168291G>T | CA372344084 | DENND3 | c.2041G>T (p.Glu681Ter) c.1801G>T (p.Glu601Ter) c.1645G>T (p.Glu549Ter) c.1814G>T n.1582G>T c.1840G>T (p.Glu614Ter) c.1684G>T (p.Glu562Ter) c.1807G>T (p.Glu603Ter) c.1297G>T (p.Glu433Ter) c.1474G>T (p.Glu492Ter) c.1468G>T (p.Glu490Ter) c.1009G>T (p.Glu337Ter) c.538G>T (p.Glu180Ter) n.1970G>T n.2137G>T c.1885G>T (p.Glu629Ter) c.577G>T (p.Glu193Ter) n.2187G>T n.2160G>T | |
8 | g.141168292A>C | CA372344085 | DENND3 | c.2042A>C (p.Glu681Ala) c.1802A>C (p.Glu601Ala) c.1646A>C (p.Glu549Ala) c.1815A>C n.1583A>C c.1841A>C (p.Glu614Ala) c.1685A>C (p.Glu562Ala) c.1808A>C (p.Glu603Ala) c.1298A>C (p.Glu433Ala) c.1475A>C (p.Glu492Ala) c.1469A>C (p.Glu490Ala) c.1010A>C (p.Glu337Ala) c.539A>C (p.Glu180Ala) n.1971A>C n.2138A>C c.1886A>C (p.Glu629Ala) c.578A>C (p.Glu193Ala) n.2188A>C n.2161A>C | |
8 | g.141168292A>G | CA372344086 | DENND3 | c.2042A>G (p.Glu681Gly) c.1802A>G (p.Glu601Gly) c.1646A>G (p.Glu549Gly) c.1815A>G n.1583A>G c.1841A>G (p.Glu614Gly) c.1685A>G (p.Glu562Gly) c.1808A>G (p.Glu603Gly) c.1298A>G (p.Glu433Gly) c.1475A>G (p.Glu492Gly) c.1469A>G (p.Glu490Gly) c.1010A>G (p.Glu337Gly) c.539A>G (p.Glu180Gly) n.1971A>G n.2138A>G c.1886A>G (p.Glu629Gly) c.578A>G (p.Glu193Gly) n.2188A>G n.2161A>G | |
8 | g.141168292A>T | CA372344087 | DENND3 | c.2042A>T (p.Glu681Val) c.1802A>T (p.Glu601Val) c.1646A>T (p.Glu549Val) c.1815A>T n.1583A>T c.1841A>T (p.Glu614Val) c.1685A>T (p.Glu562Val) c.1808A>T (p.Glu603Val) c.1298A>T (p.Glu433Val) c.1475A>T (p.Glu492Val) c.1469A>T (p.Glu490Val) c.1010A>T (p.Glu337Val) c.539A>T (p.Glu180Val) n.1971A>T n.2138A>T c.1886A>T (p.Glu629Val) c.578A>T (p.Glu193Val) n.2188A>T n.2161A>T | |
8 | g.141168292_141168293del | CA2547407273 | DENND3 | c.2042_2043del (p.Glu681ValfsTer6) c.1802_1803del (p.Glu601ValfsTer6) c.1646_1647del (p.Glu549ValfsTer6) c.1815_1816del n.1583_1584del c.1841_1842del (p.Glu614ValfsTer6) c.1685_1686del (p.Glu562ValfsTer6) c.1808_1809del (p.Glu603ValfsTer6) c.1298_1299del (p.Glu433ValfsTer6) c.1475_1476del (p.Glu492ValfsTer6) c.1469_1470del (p.Glu490ValfsTer6) c.1010_1011del (p.Glu337ValfsTer6) c.539_540del (p.Glu180ValfsTer6) n.1971_1972del n.2138_2139del c.1886_1887del (p.Glu629ValfsTer6) c.578_579del (p.Glu193ValfsTer6) n.2188_2189del n.2161_2162del | |
8 | g.141168293A>C | CA372344088 | DENND3 | c.2043A>C (p.Glu681Asp) c.1803A>C (p.Glu601Asp) c.1647A>C (p.Glu549Asp) c.1816A>C n.1584A>C c.1842A>C (p.Glu614Asp) c.1686A>C (p.Glu562Asp) c.1809A>C (p.Glu603Asp) c.1299A>C (p.Glu433Asp) c.1476A>C (p.Glu492Asp) c.1470A>C (p.Glu490Asp) c.1011A>C (p.Glu337Asp) c.540A>C (p.Glu180Asp) n.1972A>C n.2139A>C c.1887A>C (p.Glu629Asp) c.579A>C (p.Glu193Asp) n.2189A>C n.2162A>C | COSMIC |
8 | g.141168293A>G | CA463493891 | DENND3 | c.2043A>G (p.Glu681=) c.1803A>G (p.Glu601=) c.1647A>G (p.Glu549=) c.1816A>G n.1584A>G c.1842A>G (p.Glu614=) c.1686A>G (p.Glu562=) c.1809A>G (p.Glu603=) c.1299A>G (p.Glu433=) c.1476A>G (p.Glu492=) c.1470A>G (p.Glu490=) c.1011A>G (p.Glu337=) c.540A>G (p.Glu180=) n.1972A>G n.2139A>G c.1887A>G (p.Glu629=) c.579A>G (p.Glu193=) n.2189A>G n.2162A>G | |
8 | g.141168293A>T | CA372344089 | DENND3 | c.2043A>T (p.Glu681Asp) c.1803A>T (p.Glu601Asp) c.1647A>T (p.Glu549Asp) c.1816A>T n.1584A>T c.1842A>T (p.Glu614Asp) c.1686A>T (p.Glu562Asp) c.1809A>T (p.Glu603Asp) c.1299A>T (p.Glu433Asp) c.1476A>T (p.Glu492Asp) c.1470A>T (p.Glu490Asp) c.1011A>T (p.Glu337Asp) c.540A>T (p.Glu180Asp) n.1972A>T n.2139A>T c.1887A>T (p.Glu629Asp) c.579A>T (p.Glu193Asp) n.2189A>T n.2162A>T | |
8 | g.141168294T>A | CA372344090 | DENND3 | c.2044T>A (p.Ser682Thr) c.1804T>A (p.Ser602Thr) c.1648T>A (p.Ser550Thr) c.1817T>A n.1585T>A c.1843T>A (p.Ser615Thr) c.1687T>A (p.Ser563Thr) c.1810T>A (p.Ser604Thr) c.1300T>A (p.Ser434Thr) c.1477T>A (p.Ser493Thr) c.1471T>A (p.Ser491Thr) c.1012T>A (p.Ser338Thr) c.541T>A (p.Ser181Thr) n.1973T>A n.2140T>A c.1888T>A (p.Ser630Thr) c.580T>A (p.Ser194Thr) n.2190T>A n.2163T>A | |
8 | g.141168294T>C | CA372344091 | DENND3 | c.2044T>C (p.Ser682Pro) c.1804T>C (p.Ser602Pro) c.1648T>C (p.Ser550Pro) c.1817T>C n.1585T>C c.1843T>C (p.Ser615Pro) c.1687T>C (p.Ser563Pro) c.1810T>C (p.Ser604Pro) c.1300T>C (p.Ser434Pro) c.1477T>C (p.Ser493Pro) c.1471T>C (p.Ser491Pro) c.1012T>C (p.Ser338Pro) c.541T>C (p.Ser181Pro) n.1973T>C n.2140T>C c.1888T>C (p.Ser630Pro) c.580T>C (p.Ser194Pro) n.2190T>C n.2163T>C | |
8 | g.141168294T>G | CA372344092 | DENND3 | c.2044T>G (p.Ser682Ala) c.1804T>G (p.Ser602Ala) c.1648T>G (p.Ser550Ala) c.1817T>G n.1585T>G c.1843T>G (p.Ser615Ala) c.1687T>G (p.Ser563Ala) c.1810T>G (p.Ser604Ala) c.1300T>G (p.Ser434Ala) c.1477T>G (p.Ser493Ala) c.1471T>G (p.Ser491Ala) c.1012T>G (p.Ser338Ala) c.541T>G (p.Ser181Ala) n.1973T>G n.2140T>G c.1888T>G (p.Ser630Ala) c.580T>G (p.Ser194Ala) n.2190T>G n.2163T>G | |
8 | g.141168295C>A | CA372344093 | DENND3 | c.2045C>A (p.Ser682Tyr) c.1805C>A (p.Ser602Tyr) c.1649C>A (p.Ser550Tyr) c.1818C>A n.1586C>A c.1844C>A (p.Ser615Tyr) c.1688C>A (p.Ser563Tyr) c.1811C>A (p.Ser604Tyr) c.1301C>A (p.Ser434Tyr) c.1478C>A (p.Ser493Tyr) c.1472C>A (p.Ser491Tyr) c.1013C>A (p.Ser338Tyr) c.542C>A (p.Ser181Tyr) n.1974C>A n.2141C>A c.1889C>A (p.Ser630Tyr) c.581C>A (p.Ser194Tyr) n.2191C>A n.2164C>A | |
8 | g.141168295C>G | CA372344094 | DENND3 | c.2045C>G (p.Ser682Cys) c.1805C>G (p.Ser602Cys) c.1649C>G (p.Ser550Cys) c.1818C>G n.1586C>G c.1844C>G (p.Ser615Cys) c.1688C>G (p.Ser563Cys) c.1811C>G (p.Ser604Cys) c.1301C>G (p.Ser434Cys) c.1478C>G (p.Ser493Cys) c.1472C>G (p.Ser491Cys) c.1013C>G (p.Ser338Cys) c.542C>G (p.Ser181Cys) n.1974C>G n.2141C>G c.1889C>G (p.Ser630Cys) c.581C>G (p.Ser194Cys) n.2191C>G n.2164C>G | |
8 | g.141168295C>T | CA372344095 | DENND3 | c.2045C>T (p.Ser682Phe) c.1805C>T (p.Ser602Phe) c.1649C>T (p.Ser550Phe) c.1818C>T n.1586C>T c.1844C>T (p.Ser615Phe) c.1688C>T (p.Ser563Phe) c.1811C>T (p.Ser604Phe) c.1301C>T (p.Ser434Phe) c.1478C>T (p.Ser493Phe) c.1472C>T (p.Ser491Phe) c.1013C>T (p.Ser338Phe) c.542C>T (p.Ser181Phe) n.1974C>T n.2141C>T c.1889C>T (p.Ser630Phe) c.581C>T (p.Ser194Phe) n.2191C>T n.2164C>T | |
8 | g.141168296C>A | CA463493901 | DENND3 | c.2046C>A (p.Ser682=) c.1806C>A (p.Ser602=) c.1650C>A (p.Ser550=) c.1819C>A n.1587C>A c.1845C>A (p.Ser615=) c.1689C>A (p.Ser563=) c.1812C>A (p.Ser604=) c.1302C>A (p.Ser434=) c.1479C>A (p.Ser493=) c.1473C>A (p.Ser491=) c.1014C>A (p.Ser338=) c.543C>A (p.Ser181=) n.1975C>A n.2142C>A c.1890C>A (p.Ser630=) c.582C>A (p.Ser194=) n.2192C>A n.2165C>A | |
8 | g.141168296C>G | CA463493903 | DENND3 | c.2046C>G (p.Ser682=) c.1806C>G (p.Ser602=) c.1650C>G (p.Ser550=) c.1819C>G n.1587C>G c.1845C>G (p.Ser615=) c.1689C>G (p.Ser563=) c.1812C>G (p.Ser604=) c.1302C>G (p.Ser434=) c.1479C>G (p.Ser493=) c.1473C>G (p.Ser491=) c.1014C>G (p.Ser338=) c.543C>G (p.Ser181=) n.1975C>G n.2142C>G c.1890C>G (p.Ser630=) c.582C>G (p.Ser194=) n.2192C>G n.2165C>G | |
8 | g.141168296C>T | CA463493905 | DENND3 | c.2046C>T (p.Ser682=) c.1806C>T (p.Ser602=) c.1650C>T (p.Ser550=) c.1819C>T n.1587C>T c.1845C>T (p.Ser615=) c.1689C>T (p.Ser563=) c.1812C>T (p.Ser604=) c.1302C>T (p.Ser434=) c.1479C>T (p.Ser493=) c.1473C>T (p.Ser491=) c.1014C>T (p.Ser338=) c.543C>T (p.Ser181=) n.1975C>T n.2142C>T c.1890C>T (p.Ser630=) c.582C>T (p.Ser194=) n.2192C>T n.2165C>T | dbSNP |
8 | g.141168296_141168302del | CA2528185892 | DENND3 | c.2046_2052del (p.Met683ProfsTer13) c.1806_1812del (p.Met603ProfsTer13) c.1650_1656del (p.Met551ProfsTer13) c.1819_1825del n.1587_1593del c.1845_1851del (p.Met616ProfsTer13) c.1689_1695del (p.Met564ProfsTer13) c.1812_1818del (p.Met605ProfsTer13) c.1302_1308del (p.Met435ProfsTer13) c.1479_1485del (p.Met494ProfsTer13) c.1473_1479del (p.Met492ProfsTer13) c.1014_1020del (p.Met339ProfsTer13) c.543_549del (p.Met182ProfsTer13) n.1975_1981del n.2142_2148del c.1890_1896del (p.Met631ProfsTer13) c.582_588del (p.Met195ProfsTer13) n.2192_2198del n.2165_2171del | |
8 | g.141168297A>C | CA372344097 | DENND3 | c.2047A>C (p.Met683Leu) c.1807A>C (p.Met603Leu) c.1651A>C (p.Met551Leu) c.1820A>C n.1588A>C c.1846A>C (p.Met616Leu) c.1690A>C (p.Met564Leu) c.1813A>C (p.Met605Leu) c.1303A>C (p.Met435Leu) c.1480A>C (p.Met494Leu) c.1474A>C (p.Met492Leu) c.1015A>C (p.Met339Leu) c.544A>C (p.Met182Leu) n.1976A>C n.2143A>C c.1891A>C (p.Met631Leu) c.583A>C (p.Met195Leu) n.2193A>C n.2166A>C | gnomAD v4 |
8 | g.141168297A>G | CA372344096 | DENND3 | c.2047A>G (p.Met683Val) c.1807A>G (p.Met603Val) c.1651A>G (p.Met551Val) c.1820A>G n.1588A>G c.1846A>G (p.Met616Val) c.1690A>G (p.Met564Val) c.1813A>G (p.Met605Val) c.1303A>G (p.Met435Val) c.1480A>G (p.Met494Val) c.1474A>G (p.Met492Val) c.1015A>G (p.Met339Val) c.544A>G (p.Met182Val) n.1976A>G n.2143A>G c.1891A>G (p.Met631Val) c.583A>G (p.Met195Val) n.2193A>G n.2166A>G | gnomAD v4 |
8 | g.141168297A>T | CA187325748 | DENND3 | c.2047A>T (p.Met683Leu) c.1807A>T (p.Met603Leu) c.1651A>T (p.Met551Leu) c.1820A>T n.1588A>T c.1846A>T (p.Met616Leu) c.1690A>T (p.Met564Leu) c.1813A>T (p.Met605Leu) c.1303A>T (p.Met435Leu) c.1480A>T (p.Met494Leu) c.1474A>T (p.Met492Leu) c.1015A>T (p.Met339Leu) c.544A>T (p.Met182Leu) n.1976A>T n.2143A>T c.1891A>T (p.Met631Leu) c.583A>T (p.Met195Leu) n.2193A>T n.2166A>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.141168298T>A | CA372344098 | DENND3 | c.2048T>A (p.Met683Lys) c.1808T>A (p.Met603Lys) c.1652T>A (p.Met551Lys) c.1821T>A n.1589T>A c.1847T>A (p.Met616Lys) c.1691T>A (p.Met564Lys) c.1814T>A (p.Met605Lys) c.1304T>A (p.Met435Lys) c.1481T>A (p.Met494Lys) c.1475T>A (p.Met492Lys) c.1016T>A (p.Met339Lys) c.545T>A (p.Met182Lys) n.1977T>A n.2144T>A c.1892T>A (p.Met631Lys) c.584T>A (p.Met195Lys) n.2194T>A n.2167T>A | |
8 | g.141168298T>C | CA372344099 | DENND3 | c.2048T>C (p.Met683Thr) c.1808T>C (p.Met603Thr) c.1652T>C (p.Met551Thr) c.1821T>C n.1589T>C c.1847T>C (p.Met616Thr) c.1691T>C (p.Met564Thr) c.1814T>C (p.Met605Thr) c.1304T>C (p.Met435Thr) c.1481T>C (p.Met494Thr) c.1475T>C (p.Met492Thr) c.1016T>C (p.Met339Thr) c.545T>C (p.Met182Thr) n.1977T>C n.2144T>C c.1892T>C (p.Met631Thr) c.584T>C (p.Met195Thr) n.2194T>C n.2167T>C | gnomAD v4 |
8 | g.141168298T>G | CA372344100 | DENND3 | c.2048T>G (p.Met683Arg) c.1808T>G (p.Met603Arg) c.1652T>G (p.Met551Arg) c.1821T>G n.1589T>G c.1847T>G (p.Met616Arg) c.1691T>G (p.Met564Arg) c.1814T>G (p.Met605Arg) c.1304T>G (p.Met435Arg) c.1481T>G (p.Met494Arg) c.1475T>G (p.Met492Arg) c.1016T>G (p.Met339Arg) c.545T>G (p.Met182Arg) n.1977T>G n.2144T>G c.1892T>G (p.Met631Arg) c.584T>G (p.Met195Arg) n.2194T>G n.2167T>G | |
8 | g.141168299G>A | CA372344101 | DENND3 | c.2049G>A (p.Met683Ile) c.1809G>A (p.Met603Ile) c.1653G>A (p.Met551Ile) c.1822G>A n.1590G>A c.1848G>A (p.Met616Ile) c.1692G>A (p.Met564Ile) c.1815G>A (p.Met605Ile) c.1305G>A (p.Met435Ile) c.1482G>A (p.Met494Ile) c.1476G>A (p.Met492Ile) c.1017G>A (p.Met339Ile) c.546G>A (p.Met182Ile) n.1978G>A n.2145G>A c.1893G>A (p.Met631Ile) c.585G>A (p.Met195Ile) n.2195G>A n.2168G>A | |
8 | g.141168299G>C | CA372344102 | DENND3 | c.2049G>C (p.Met683Ile) c.1809G>C (p.Met603Ile) c.1653G>C (p.Met551Ile) c.1822G>C n.1590G>C c.1848G>C (p.Met616Ile) c.1692G>C (p.Met564Ile) c.1815G>C (p.Met605Ile) c.1305G>C (p.Met435Ile) c.1482G>C (p.Met494Ile) c.1476G>C (p.Met492Ile) c.1017G>C (p.Met339Ile) c.546G>C (p.Met182Ile) n.1978G>C n.2145G>C c.1893G>C (p.Met631Ile) c.585G>C (p.Met195Ile) n.2195G>C n.2168G>C | gnomAD v4 |
8 | g.141168299G>T | CA372344103 | DENND3 | c.2049G>T (p.Met683Ile) c.1809G>T (p.Met603Ile) c.1653G>T (p.Met551Ile) c.1822G>T n.1590G>T c.1848G>T (p.Met616Ile) c.1692G>T (p.Met564Ile) c.1815G>T (p.Met605Ile) c.1305G>T (p.Met435Ile) c.1482G>T (p.Met494Ile) c.1476G>T (p.Met492Ile) c.1017G>T (p.Met339Ile) c.546G>T (p.Met182Ile) n.1978G>T n.2145G>T c.1893G>T (p.Met631Ile) c.585G>T (p.Met195Ile) n.2195G>T n.2168G>T | |
8 | g.141168300T>A | CA372344104 | DENND3 | c.2050T>A (p.Ser684Thr) c.1810T>A (p.Ser604Thr) c.1654T>A (p.Ser552Thr) c.1823T>A n.1591T>A c.1849T>A (p.Ser617Thr) c.1693T>A (p.Ser565Thr) c.1816T>A (p.Ser606Thr) c.1306T>A (p.Ser436Thr) c.1483T>A (p.Ser495Thr) c.1477T>A (p.Ser493Thr) c.1018T>A (p.Ser340Thr) c.547T>A (p.Ser183Thr) n.1979T>A n.2146T>A c.1894T>A (p.Ser632Thr) c.586T>A (p.Ser196Thr) n.2196T>A n.2169T>A | |
8 | g.141168300T>C | CA372344105 | DENND3 | c.2050T>C (p.Ser684Pro) c.1810T>C (p.Ser604Pro) c.1654T>C (p.Ser552Pro) c.1823T>C n.1591T>C c.1849T>C (p.Ser617Pro) c.1693T>C (p.Ser565Pro) c.1816T>C (p.Ser606Pro) c.1306T>C (p.Ser436Pro) c.1483T>C (p.Ser495Pro) c.1477T>C (p.Ser493Pro) c.1018T>C (p.Ser340Pro) c.547T>C (p.Ser183Pro) n.1979T>C n.2146T>C c.1894T>C (p.Ser632Pro) c.586T>C (p.Ser196Pro) n.2196T>C n.2169T>C | gnomAD v4 |
8 | g.141168300T>G | CA372344106 | DENND3 | c.2050T>G (p.Ser684Ala) c.1810T>G (p.Ser604Ala) c.1654T>G (p.Ser552Ala) c.1823T>G n.1591T>G c.1849T>G (p.Ser617Ala) c.1693T>G (p.Ser565Ala) c.1816T>G (p.Ser606Ala) c.1306T>G (p.Ser436Ala) c.1483T>G (p.Ser495Ala) c.1477T>G (p.Ser493Ala) c.1018T>G (p.Ser340Ala) c.547T>G (p.Ser183Ala) n.1979T>G n.2146T>G c.1894T>G (p.Ser632Ala) c.586T>G (p.Ser196Ala) n.2196T>G n.2169T>G | |
8 | g.141168301C>A | CA372344107 | DENND3 | c.2051C>A (p.Ser684Tyr) c.1811C>A (p.Ser604Tyr) c.1655C>A (p.Ser552Tyr) c.1824C>A n.1592C>A c.1850C>A (p.Ser617Tyr) c.1694C>A (p.Ser565Tyr) c.1817C>A (p.Ser606Tyr) c.1307C>A (p.Ser436Tyr) c.1484C>A (p.Ser495Tyr) c.1478C>A (p.Ser493Tyr) c.1019C>A (p.Ser340Tyr) c.548C>A (p.Ser183Tyr) n.1980C>A n.2147C>A c.1895C>A (p.Ser632Tyr) c.587C>A (p.Ser196Tyr) n.2197C>A n.2170C>A | |
8 | g.141168301C>G | CA372344108 | DENND3 | c.2051C>G (p.Ser684Cys) c.1811C>G (p.Ser604Cys) c.1655C>G (p.Ser552Cys) c.1824C>G n.1592C>G c.1850C>G (p.Ser617Cys) c.1694C>G (p.Ser565Cys) c.1817C>G (p.Ser606Cys) c.1307C>G (p.Ser436Cys) c.1484C>G (p.Ser495Cys) c.1478C>G (p.Ser493Cys) c.1019C>G (p.Ser340Cys) c.548C>G (p.Ser183Cys) n.1980C>G n.2147C>G c.1895C>G (p.Ser632Cys) c.587C>G (p.Ser196Cys) n.2197C>G n.2170C>G | |
8 | g.141168301C>T | CA372344109 | DENND3 | c.2051C>T (p.Ser684Phe) c.1811C>T (p.Ser604Phe) c.1655C>T (p.Ser552Phe) c.1824C>T n.1592C>T c.1850C>T (p.Ser617Phe) c.1694C>T (p.Ser565Phe) c.1817C>T (p.Ser606Phe) c.1307C>T (p.Ser436Phe) c.1484C>T (p.Ser495Phe) c.1478C>T (p.Ser493Phe) c.1019C>T (p.Ser340Phe) c.548C>T (p.Ser183Phe) n.1980C>T n.2147C>T c.1895C>T (p.Ser632Phe) c.587C>T (p.Ser196Phe) n.2197C>T n.2170C>T | |
8 | g.141168302T>A | CA463493925 | DENND3 | c.2052T>A (p.Ser684=) c.1812T>A (p.Ser604=) c.1656T>A (p.Ser552=) c.1825T>A n.1593T>A c.1851T>A (p.Ser617=) c.1695T>A (p.Ser565=) c.1818T>A (p.Ser606=) c.1308T>A (p.Ser436=) c.1485T>A (p.Ser495=) c.1479T>A (p.Ser493=) c.1020T>A (p.Ser340=) c.549T>A (p.Ser183=) n.1981T>A n.2148T>A c.1896T>A (p.Ser632=) c.588T>A (p.Ser196=) n.2198T>A n.2171T>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168302T>C | CA463493927 | DENND3 | c.2052T>C (p.Ser684=) c.1812T>C (p.Ser604=) c.1656T>C (p.Ser552=) c.1825T>C n.1593T>C c.1851T>C (p.Ser617=) c.1695T>C (p.Ser565=) c.1818T>C (p.Ser606=) c.1308T>C (p.Ser436=) c.1485T>C (p.Ser495=) c.1479T>C (p.Ser493=) c.1020T>C (p.Ser340=) c.549T>C (p.Ser183=) n.1981T>C n.2148T>C c.1896T>C (p.Ser632=) c.588T>C (p.Ser196=) n.2198T>C n.2171T>C | dbSNP |
8 | g.141168302T>G | CA463493929 | DENND3 | c.2052T>G (p.Ser684=) c.1812T>G (p.Ser604=) c.1656T>G (p.Ser552=) c.1825T>G n.1593T>G c.1851T>G (p.Ser617=) c.1695T>G (p.Ser565=) c.1818T>G (p.Ser606=) c.1308T>G (p.Ser436=) c.1485T>G (p.Ser495=) c.1479T>G (p.Ser493=) c.1020T>G (p.Ser340=) c.549T>G (p.Ser183=) n.1981T>G n.2148T>G c.1896T>G (p.Ser632=) c.588T>G (p.Ser196=) n.2198T>G n.2171T>G | |
8 | g.141168303G>A | CA4896797 | DENND3 | c.2053G>A (p.Ala685Thr) c.1813G>A (p.Ala605Thr) c.1657G>A (p.Ala553Thr) c.1826G>A n.1594G>A c.1852G>A (p.Ala618Thr) c.1696G>A (p.Ala566Thr) c.1819G>A (p.Ala607Thr) c.1309G>A (p.Ala437Thr) c.1486G>A (p.Ala496Thr) c.1480G>A (p.Ala494Thr) c.1021G>A (p.Ala341Thr) c.550G>A (p.Ala184Thr) n.1982G>A n.2149G>A c.1897G>A (p.Ala633Thr) c.589G>A (p.Ala197Thr) n.2199G>A n.2172G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.141168303G>C | CA372344111 | DENND3 | c.2053G>C (p.Ala685Pro) c.1813G>C (p.Ala605Pro) c.1657G>C (p.Ala553Pro) c.1826G>C n.1594G>C c.1852G>C (p.Ala618Pro) c.1696G>C (p.Ala566Pro) c.1819G>C (p.Ala607Pro) c.1309G>C (p.Ala437Pro) c.1486G>C (p.Ala496Pro) c.1480G>C (p.Ala494Pro) c.1021G>C (p.Ala341Pro) c.550G>C (p.Ala184Pro) n.1982G>C n.2149G>C c.1897G>C (p.Ala633Pro) c.589G>C (p.Ala197Pro) n.2199G>C n.2172G>C | gnomAD v4 |
8 | g.141168303G>T | CA372344110 | DENND3 | c.2053G>T (p.Ala685Ser) c.1813G>T (p.Ala605Ser) c.1657G>T (p.Ala553Ser) c.1826G>T n.1594G>T c.1852G>T (p.Ala618Ser) c.1696G>T (p.Ala566Ser) c.1819G>T (p.Ala607Ser) c.1309G>T (p.Ala437Ser) c.1486G>T (p.Ala496Ser) c.1480G>T (p.Ala494Ser) c.1021G>T (p.Ala341Ser) c.550G>T (p.Ala184Ser) n.1982G>T n.2149G>T c.1897G>T (p.Ala633Ser) c.589G>T (p.Ala197Ser) n.2199G>T n.2172G>T | COSMIC |
8 | g.141168304C>A | CA372344112 | DENND3 | c.2054C>A (p.Ala685Asp) c.1814C>A (p.Ala605Asp) c.1658C>A (p.Ala553Asp) c.1827C>A n.1595C>A c.1853C>A (p.Ala618Asp) c.1697C>A (p.Ala566Asp) c.1820C>A (p.Ala607Asp) c.1310C>A (p.Ala437Asp) c.1487C>A (p.Ala496Asp) c.1481C>A (p.Ala494Asp) c.1022C>A (p.Ala341Asp) c.551C>A (p.Ala184Asp) n.1983C>A n.2150C>A c.1898C>A (p.Ala633Asp) c.590C>A (p.Ala197Asp) n.2200C>A n.2173C>A | |
8 | g.141168304C>G | CA372344113 | DENND3 | c.2054C>G (p.Ala685Gly) c.1814C>G (p.Ala605Gly) c.1658C>G (p.Ala553Gly) c.1827C>G n.1595C>G c.1853C>G (p.Ala618Gly) c.1697C>G (p.Ala566Gly) c.1820C>G (p.Ala607Gly) c.1310C>G (p.Ala437Gly) c.1487C>G (p.Ala496Gly) c.1481C>G (p.Ala494Gly) c.1022C>G (p.Ala341Gly) c.551C>G (p.Ala184Gly) n.1983C>G n.2150C>G c.1898C>G (p.Ala633Gly) c.590C>G (p.Ala197Gly) n.2200C>G n.2173C>G | |
8 | g.141168304C>T | CA372344114 | DENND3 | c.2054C>T (p.Ala685Val) c.1814C>T (p.Ala605Val) c.1658C>T (p.Ala553Val) c.1827C>T n.1595C>T c.1853C>T (p.Ala618Val) c.1697C>T (p.Ala566Val) c.1820C>T (p.Ala607Val) c.1310C>T (p.Ala437Val) c.1487C>T (p.Ala496Val) c.1481C>T (p.Ala494Val) c.1022C>T (p.Ala341Val) c.551C>T (p.Ala184Val) n.1983C>T n.2150C>T c.1898C>T (p.Ala633Val) c.590C>T (p.Ala197Val) n.2200C>T n.2173C>T | gnomAD v4 |
8 | g.141168307del | CA2688780302 | DENND3 | c.2057del (p.Pro686LeufsTer12) c.1817del (p.Pro606LeufsTer12) c.1661del (p.Pro554LeufsTer12) c.1830del n.1598del c.1856del (p.Pro619LeufsTer12) c.1700del (p.Pro567LeufsTer12) c.1823del (p.Pro608LeufsTer12) c.1313del (p.Pro438LeufsTer12) c.1490del (p.Pro497LeufsTer12) c.1484del (p.Pro495LeufsTer12) c.1025del (p.Pro342LeufsTer12) c.554del (p.Pro185LeufsTer12) n.1986del n.2153del c.1901del (p.Pro634LeufsTer12) c.593del (p.Pro198LeufsTer12) n.2203del n.2176del | gnomAD v4 |
8 | g.141168305C>A | CA463493939 | DENND3 | c.2055C>A (p.Ala685=) c.1815C>A (p.Ala605=) c.1659C>A (p.Ala553=) c.1828C>A n.1596C>A c.1854C>A (p.Ala618=) c.1698C>A (p.Ala566=) c.1821C>A (p.Ala607=) c.1311C>A (p.Ala437=) c.1488C>A (p.Ala496=) c.1482C>A (p.Ala494=) c.1023C>A (p.Ala341=) c.552C>A (p.Ala184=) n.1984C>A n.2151C>A c.1899C>A (p.Ala633=) c.591C>A (p.Ala197=) n.2201C>A n.2174C>A | |
8 | g.141168305C>G | CA463493942 | DENND3 | c.2055C>G (p.Ala685=) c.1815C>G (p.Ala605=) c.1659C>G (p.Ala553=) c.1828C>G n.1596C>G c.1854C>G (p.Ala618=) c.1698C>G (p.Ala566=) c.1821C>G (p.Ala607=) c.1311C>G (p.Ala437=) c.1488C>G (p.Ala496=) c.1482C>G (p.Ala494=) c.1023C>G (p.Ala341=) c.552C>G (p.Ala184=) n.1984C>G n.2151C>G c.1899C>G (p.Ala633=) c.591C>G (p.Ala197=) n.2201C>G n.2174C>G | |
8 | g.141168305C>T | CA187325749 | DENND3 | c.2055C>T (p.Ala685=) c.1815C>T (p.Ala605=) c.1659C>T (p.Ala553=) c.1828C>T n.1596C>T c.1854C>T (p.Ala618=) c.1698C>T (p.Ala566=) c.1821C>T (p.Ala607=) c.1311C>T (p.Ala437=) c.1488C>T (p.Ala496=) c.1482C>T (p.Ala494=) c.1023C>T (p.Ala341=) c.552C>T (p.Ala184=) n.1984C>T n.2151C>T c.1899C>T (p.Ala633=) c.591C>T (p.Ala197=) n.2201C>T n.2174C>T | dbSNP gnomAD v4 COSMIC |
8 | g.141168306C>A | CA4896798 | DENND3 | c.2056C>A (p.Pro686Thr) c.1816C>A (p.Pro606Thr) c.1660C>A (p.Pro554Thr) c.1829C>A n.1597C>A c.1855C>A (p.Pro619Thr) c.1699C>A (p.Pro567Thr) c.1822C>A (p.Pro608Thr) c.1312C>A (p.Pro438Thr) c.1489C>A (p.Pro497Thr) c.1483C>A (p.Pro495Thr) c.1024C>A (p.Pro342Thr) c.553C>A (p.Pro185Thr) n.1985C>A n.2152C>A c.1900C>A (p.Pro634Thr) c.592C>A (p.Pro198Thr) n.2202C>A n.2175C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168306C>G | CA372344115 | DENND3 | c.2056C>G (p.Pro686Ala) c.1816C>G (p.Pro606Ala) c.1660C>G (p.Pro554Ala) c.1829C>G n.1597C>G c.1855C>G (p.Pro619Ala) c.1699C>G (p.Pro567Ala) c.1822C>G (p.Pro608Ala) c.1312C>G (p.Pro438Ala) c.1489C>G (p.Pro497Ala) c.1483C>G (p.Pro495Ala) c.1024C>G (p.Pro342Ala) c.553C>G (p.Pro185Ala) n.1985C>G n.2152C>G c.1900C>G (p.Pro634Ala) c.592C>G (p.Pro198Ala) n.2202C>G n.2175C>G | |
8 | g.141168306C>T | CA372344116 | DENND3 | c.2056C>T (p.Pro686Ser) c.1816C>T (p.Pro606Ser) c.1660C>T (p.Pro554Ser) c.1829C>T n.1597C>T c.1855C>T (p.Pro619Ser) c.1699C>T (p.Pro567Ser) c.1822C>T (p.Pro608Ser) c.1312C>T (p.Pro438Ser) c.1489C>T (p.Pro497Ser) c.1483C>T (p.Pro495Ser) c.1024C>T (p.Pro342Ser) c.553C>T (p.Pro185Ser) n.1985C>T n.2152C>T c.1900C>T (p.Pro634Ser) c.592C>T (p.Pro198Ser) n.2202C>T n.2175C>T | |
8 | g.141168306_141168308del | CA2548625905 | DENND3 | c.2056_2058del (p.Pro686del) c.1816_1818del (p.Pro606del) c.1660_1662del (p.Pro554del) c.1829_1831del n.1597_1599del c.1855_1857del (p.Pro619del) c.1699_1701del (p.Pro567del) c.1822_1824del (p.Pro608del) c.1312_1314del (p.Pro438del) c.1489_1491del (p.Pro497del) c.1483_1485del (p.Pro495del) c.1024_1026del (p.Pro342del) c.553_555del (p.Pro185del) n.1985_1987del n.2152_2154del c.1900_1902del (p.Pro634del) c.592_594del (p.Pro198del) n.2202_2204del n.2175_2177del | |
8 | g.141168307C>A | CA372344117 | DENND3 | c.2057C>A (p.Pro686His) c.1817C>A (p.Pro606His) c.1661C>A (p.Pro554His) c.1830C>A n.1598C>A c.1856C>A (p.Pro619His) c.1700C>A (p.Pro567His) c.1823C>A (p.Pro608His) c.1313C>A (p.Pro438His) c.1490C>A (p.Pro497His) c.1484C>A (p.Pro495His) c.1025C>A (p.Pro342His) c.554C>A (p.Pro185His) n.1986C>A n.2153C>A c.1901C>A (p.Pro634His) c.593C>A (p.Pro198His) n.2203C>A n.2176C>A | |
8 | g.141168307C>G | CA372344118 | DENND3 | c.2057C>G (p.Pro686Arg) c.1817C>G (p.Pro606Arg) c.1661C>G (p.Pro554Arg) c.1830C>G n.1598C>G c.1856C>G (p.Pro619Arg) c.1700C>G (p.Pro567Arg) c.1823C>G (p.Pro608Arg) c.1313C>G (p.Pro438Arg) c.1490C>G (p.Pro497Arg) c.1484C>G (p.Pro495Arg) c.1025C>G (p.Pro342Arg) c.554C>G (p.Pro185Arg) n.1986C>G n.2153C>G c.1901C>G (p.Pro634Arg) c.593C>G (p.Pro198Arg) n.2203C>G n.2176C>G | |
8 | g.141168307C>T | CA4896799 | DENND3 | c.2057C>T (p.Pro686Leu) c.1817C>T (p.Pro606Leu) c.1661C>T (p.Pro554Leu) c.1830C>T n.1598C>T c.1856C>T (p.Pro619Leu) c.1700C>T (p.Pro567Leu) c.1823C>T (p.Pro608Leu) c.1313C>T (p.Pro438Leu) c.1490C>T (p.Pro497Leu) c.1484C>T (p.Pro495Leu) c.1025C>T (p.Pro342Leu) c.554C>T (p.Pro185Leu) n.1986C>T n.2153C>T c.1901C>T (p.Pro634Leu) c.593C>T (p.Pro198Leu) n.2203C>T n.2176C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168307_141168308del | CA2688780314 | DENND3 | c.2057_2058del (p.Pro686ArgfsTer6) c.1817_1818del (p.Pro606ArgfsTer6) c.1661_1662del (p.Pro554ArgfsTer6) c.1830_1831del n.1598_1599del c.1856_1857del (p.Pro619ArgfsTer6) c.1700_1701del (p.Pro567ArgfsTer6) c.1823_1824del (p.Pro608ArgfsTer6) c.1313_1314del (p.Pro438ArgfsTer6) c.1490_1491del (p.Pro497ArgfsTer6) c.1484_1485del (p.Pro495ArgfsTer6) c.1025_1026del (p.Pro342ArgfsTer6) c.554_555del (p.Pro185ArgfsTer6) n.1986_1987del n.2153_2154del c.1901_1902del (p.Pro634ArgfsTer6) c.593_594del (p.Pro198ArgfsTer6) n.2203_2204del n.2176_2177del | gnomAD v4 |
8 | g.141168308del | CA2579262221 | DENND3 | c.2058del (p.Glu687SerfsTer11) c.1818del (p.Glu607SerfsTer11) c.1662del (p.Glu555SerfsTer11) c.1831del n.1599del c.1857del (p.Glu620SerfsTer11) c.1701del (p.Glu568SerfsTer11) c.1824del (p.Glu609SerfsTer11) c.1314del (p.Glu439SerfsTer11) c.1491del (p.Glu498SerfsTer11) c.1485del (p.Glu496SerfsTer11) c.1026del (p.Glu343SerfsTer11) c.555del (p.Glu186SerfsTer11) n.1987del n.2154del c.1902del (p.Glu635SerfsTer11) c.594del (p.Glu199SerfsTer11) n.2204del n.2177del | |
8 | g.141168308T>A | CA463493953 | DENND3 | c.2058T>A (p.Pro686=) c.1818T>A (p.Pro606=) c.1662T>A (p.Pro554=) c.1831T>A n.1599T>A c.1857T>A (p.Pro619=) c.1701T>A (p.Pro567=) c.1824T>A (p.Pro608=) c.1314T>A (p.Pro438=) c.1491T>A (p.Pro497=) c.1485T>A (p.Pro495=) c.1026T>A (p.Pro342=) c.555T>A (p.Pro185=) n.1987T>A n.2154T>A c.1902T>A (p.Pro634=) c.594T>A (p.Pro198=) n.2204T>A n.2177T>A | |
8 | g.141168308T>C | CA463493955 | DENND3 | c.2058T>C (p.Pro686=) c.1818T>C (p.Pro606=) c.1662T>C (p.Pro554=) c.1831T>C n.1599T>C c.1857T>C (p.Pro619=) c.1701T>C (p.Pro567=) c.1824T>C (p.Pro608=) c.1314T>C (p.Pro438=) c.1491T>C (p.Pro497=) c.1485T>C (p.Pro495=) c.1026T>C (p.Pro342=) c.555T>C (p.Pro185=) n.1987T>C n.2154T>C c.1902T>C (p.Pro634=) c.594T>C (p.Pro198=) n.2204T>C n.2177T>C | |
8 | g.141168308T>G | CA463493957 | DENND3 | c.2058T>G (p.Pro686=) c.1818T>G (p.Pro606=) c.1662T>G (p.Pro554=) c.1831T>G n.1599T>G c.1857T>G (p.Pro619=) c.1701T>G (p.Pro567=) c.1824T>G (p.Pro608=) c.1314T>G (p.Pro438=) c.1491T>G (p.Pro497=) c.1485T>G (p.Pro495=) c.1026T>G (p.Pro342=) c.555T>G (p.Pro185=) n.1987T>G n.2154T>G c.1902T>G (p.Pro634=) c.594T>G (p.Pro198=) n.2204T>G n.2177T>G | COSMIC |
8 | g.141168309G>A | CA372344119 | DENND3 | c.2059G>A (p.Glu687Lys) c.1819G>A (p.Glu607Lys) c.1663G>A (p.Glu555Lys) c.1832G>A n.1600G>A c.1858G>A (p.Glu620Lys) c.1702G>A (p.Glu568Lys) c.1825G>A (p.Glu609Lys) c.1315G>A (p.Glu439Lys) c.1492G>A (p.Glu498Lys) c.1486G>A (p.Glu496Lys) c.1027G>A (p.Glu343Lys) c.556G>A (p.Glu186Lys) n.1988G>A n.2155G>A c.1903G>A (p.Glu635Lys) c.595G>A (p.Glu199Lys) n.2205G>A n.2178G>A | |
8 | g.141168309G>C | CA372344120 | DENND3 | c.2059G>C (p.Glu687Gln) c.1819G>C (p.Glu607Gln) c.1663G>C (p.Glu555Gln) c.1832G>C n.1600G>C c.1858G>C (p.Glu620Gln) c.1702G>C (p.Glu568Gln) c.1825G>C (p.Glu609Gln) c.1315G>C (p.Glu439Gln) c.1492G>C (p.Glu498Gln) c.1486G>C (p.Glu496Gln) c.1027G>C (p.Glu343Gln) c.556G>C (p.Glu186Gln) n.1988G>C n.2155G>C c.1903G>C (p.Glu635Gln) c.595G>C (p.Glu199Gln) n.2205G>C n.2178G>C | |
8 | g.141168309G>T | CA372344121 | DENND3 | c.2059G>T (p.Glu687Ter) c.1819G>T (p.Glu607Ter) c.1663G>T (p.Glu555Ter) c.1832G>T n.1600G>T c.1858G>T (p.Glu620Ter) c.1702G>T (p.Glu568Ter) c.1825G>T (p.Glu609Ter) c.1315G>T (p.Glu439Ter) c.1492G>T (p.Glu498Ter) c.1486G>T (p.Glu496Ter) c.1027G>T (p.Glu343Ter) c.556G>T (p.Glu186Ter) n.1988G>T n.2155G>T c.1903G>T (p.Glu635Ter) c.595G>T (p.Glu199Ter) n.2205G>T n.2178G>T | |
8 | g.141168309_141168310insTATCATTAAAAA | CA2550670887 | DENND3 | c.2059_2060insTATCATTAAAAA (p.Glu687delinsValSerLeuLysLys) c.1819_1820insTATCATTAAAAA (p.Glu607delinsValSerLeuLysLys) c.1663_1664insTATCATTAAAAA (p.Glu555delinsValSerLeuLysLys) c.1832_1833insTATCATTAAAAA n.1600_1601insTATCATTAAAAA c.1858_1859insTATCATTAAAAA (p.Glu620delinsValSerLeuLysLys) c.1702_1703insTATCATTAAAAA (p.Glu568delinsValSerLeuLysLys) c.1825_1826insTATCATTAAAAA (p.Glu609delinsValSerLeuLysLys) c.1315_1316insTATCATTAAAAA (p.Glu439delinsValSerLeuLysLys) c.1492_1493insTATCATTAAAAA (p.Glu498delinsValSerLeuLysLys) c.1486_1487insTATCATTAAAAA (p.Glu496delinsValSerLeuLysLys) c.1027_1028insTATCATTAAAAA (p.Glu343delinsValSerLeuLysLys) c.556_557insTATCATTAAAAA (p.Glu186delinsValSerLeuLysLys) n.1988_1989insTATCATTAAAAA n.2155_2156insTATCATTAAAAA c.1903_1904insTATCATTAAAAA (p.Glu635delinsValSerLeuLysLys) c.595_596insTATCATTAAAAA (p.Glu199delinsValSerLeuLysLys) n.2205_2206insTATCATTAAAAA n.2178_2179insTATCATTAAAAA | |
8 | g.141168310A>C | CA372344124 | DENND3 | c.2060A>C (p.Glu687Ala) c.1820A>C (p.Glu607Ala) c.1664A>C (p.Glu555Ala) c.1833A>C n.1601A>C c.1859A>C (p.Glu620Ala) c.1703A>C (p.Glu568Ala) c.1826A>C (p.Glu609Ala) c.1316A>C (p.Glu439Ala) c.1493A>C (p.Glu498Ala) c.1487A>C (p.Glu496Ala) c.1028A>C (p.Glu343Ala) c.557A>C (p.Glu186Ala) n.1989A>C n.2156A>C c.1904A>C (p.Glu635Ala) c.596A>C (p.Glu199Ala) n.2206A>C n.2179A>C | |
8 | g.141168310A>G | CA372344123 | DENND3 | c.2060A>G (p.Glu687Gly) c.1820A>G (p.Glu607Gly) c.1664A>G (p.Glu555Gly) c.1833A>G n.1601A>G c.1859A>G (p.Glu620Gly) c.1703A>G (p.Glu568Gly) c.1826A>G (p.Glu609Gly) c.1316A>G (p.Glu439Gly) c.1493A>G (p.Glu498Gly) c.1487A>G (p.Glu496Gly) c.1028A>G (p.Glu343Gly) c.557A>G (p.Glu186Gly) n.1989A>G n.2156A>G c.1904A>G (p.Glu635Gly) c.596A>G (p.Glu199Gly) n.2206A>G n.2179A>G | |
8 | g.141168310A>T | CA372344122 | DENND3 | c.2060A>T (p.Glu687Val) c.1820A>T (p.Glu607Val) c.1664A>T (p.Glu555Val) c.1833A>T n.1601A>T c.1859A>T (p.Glu620Val) c.1703A>T (p.Glu568Val) c.1826A>T (p.Glu609Val) c.1316A>T (p.Glu439Val) c.1493A>T (p.Glu498Val) c.1487A>T (p.Glu496Val) c.1028A>T (p.Glu343Val) c.557A>T (p.Glu186Val) n.1989A>T n.2156A>T c.1904A>T (p.Glu635Val) c.596A>T (p.Glu199Val) n.2206A>T n.2179A>T | |
8 | g.141168311G>A | CA463493966 | DENND3 | c.2061G>A (p.Glu687=) c.1821G>A (p.Glu607=) c.1665G>A (p.Glu555=) c.1834G>A n.1602G>A c.1860G>A (p.Glu620=) c.1704G>A (p.Glu568=) c.1827G>A (p.Glu609=) c.1317G>A (p.Glu439=) c.1494G>A (p.Glu498=) c.1488G>A (p.Glu496=) c.1029G>A (p.Glu343=) c.558G>A (p.Glu186=) n.1990G>A n.2157G>A c.1905G>A (p.Glu635=) c.597G>A (p.Glu199=) n.2207G>A n.2180G>A | gnomAD v4 |
8 | g.141168311G>C | CA372344125 | DENND3 | c.2061G>C (p.Glu687Asp) c.1821G>C (p.Glu607Asp) c.1665G>C (p.Glu555Asp) c.1834G>C n.1602G>C c.1860G>C (p.Glu620Asp) c.1704G>C (p.Glu568Asp) c.1827G>C (p.Glu609Asp) c.1317G>C (p.Glu439Asp) c.1494G>C (p.Glu498Asp) c.1488G>C (p.Glu496Asp) c.1029G>C (p.Glu343Asp) c.558G>C (p.Glu186Asp) n.1990G>C n.2157G>C c.1905G>C (p.Glu635Asp) c.597G>C (p.Glu199Asp) n.2207G>C n.2180G>C | |
8 | g.141168311G>T | CA372344126 | DENND3 | c.2061G>T (p.Glu687Asp) c.1821G>T (p.Glu607Asp) c.1665G>T (p.Glu555Asp) c.1834G>T n.1602G>T c.1860G>T (p.Glu620Asp) c.1704G>T (p.Glu568Asp) c.1827G>T (p.Glu609Asp) c.1317G>T (p.Glu439Asp) c.1494G>T (p.Glu498Asp) c.1488G>T (p.Glu496Asp) c.1029G>T (p.Glu343Asp) c.558G>T (p.Glu186Asp) n.1990G>T n.2157G>T c.1905G>T (p.Glu635Asp) c.597G>T (p.Glu199Asp) n.2207G>T n.2180G>T | |
8 | g.141168312T>A | CA372344127 | DENND3 | c.2062T>A (p.Trp688Arg) c.1822T>A (p.Trp608Arg) c.1666T>A (p.Trp556Arg) c.1835T>A n.1603T>A c.1861T>A (p.Trp621Arg) c.1705T>A (p.Trp569Arg) c.1828T>A (p.Trp610Arg) c.1318T>A (p.Trp440Arg) c.1495T>A (p.Trp499Arg) c.1489T>A (p.Trp497Arg) c.1030T>A (p.Trp344Arg) c.559T>A (p.Trp187Arg) n.1991T>A n.2158T>A c.1906T>A (p.Trp636Arg) c.598T>A (p.Trp200Arg) n.2208T>A n.2181T>A | |
8 | g.141168312T>C | CA372344128 | DENND3 | c.2062T>C (p.Trp688Arg) c.1822T>C (p.Trp608Arg) c.1666T>C (p.Trp556Arg) c.1835T>C n.1603T>C c.1861T>C (p.Trp621Arg) c.1705T>C (p.Trp569Arg) c.1828T>C (p.Trp610Arg) c.1318T>C (p.Trp440Arg) c.1495T>C (p.Trp499Arg) c.1489T>C (p.Trp497Arg) c.1030T>C (p.Trp344Arg) c.559T>C (p.Trp187Arg) n.1991T>C n.2158T>C c.1906T>C (p.Trp636Arg) c.598T>C (p.Trp200Arg) n.2208T>C n.2181T>C | |
8 | g.141168312T>G | CA372344129 | DENND3 | c.2062T>G (p.Trp688Gly) c.1822T>G (p.Trp608Gly) c.1666T>G (p.Trp556Gly) c.1835T>G n.1603T>G c.1861T>G (p.Trp621Gly) c.1705T>G (p.Trp569Gly) c.1828T>G (p.Trp610Gly) c.1318T>G (p.Trp440Gly) c.1495T>G (p.Trp499Gly) c.1489T>G (p.Trp497Gly) c.1030T>G (p.Trp344Gly) c.559T>G (p.Trp187Gly) n.1991T>G n.2158T>G c.1906T>G (p.Trp636Gly) c.598T>G (p.Trp200Gly) n.2208T>G n.2181T>G | |
8 | g.141168313G>A | CA372344130 | DENND3 | c.2063G>A (p.Trp688Ter) c.1823G>A (p.Trp608Ter) c.1667G>A (p.Trp556Ter) c.1836G>A n.1604G>A c.1862G>A (p.Trp621Ter) c.1706G>A (p.Trp569Ter) c.1829G>A (p.Trp610Ter) c.1319G>A (p.Trp440Ter) c.1496G>A (p.Trp499Ter) c.1490G>A (p.Trp497Ter) c.1031G>A (p.Trp344Ter) c.560G>A (p.Trp187Ter) n.1992G>A n.2159G>A c.1907G>A (p.Trp636Ter) c.599G>A (p.Trp200Ter) n.2209G>A n.2182G>A | |
8 | g.141168313G>C | CA372344131 | DENND3 | c.2063G>C (p.Trp688Ser) c.1823G>C (p.Trp608Ser) c.1667G>C (p.Trp556Ser) c.1836G>C n.1604G>C c.1862G>C (p.Trp621Ser) c.1706G>C (p.Trp569Ser) c.1829G>C (p.Trp610Ser) c.1319G>C (p.Trp440Ser) c.1496G>C (p.Trp499Ser) c.1490G>C (p.Trp497Ser) c.1031G>C (p.Trp344Ser) c.560G>C (p.Trp187Ser) n.1992G>C n.2159G>C c.1907G>C (p.Trp636Ser) c.599G>C (p.Trp200Ser) n.2209G>C n.2182G>C | |
8 | g.141168313G>T | CA372344132 | DENND3 | c.2063G>T (p.Trp688Leu) c.1823G>T (p.Trp608Leu) c.1667G>T (p.Trp556Leu) c.1836G>T n.1604G>T c.1862G>T (p.Trp621Leu) c.1706G>T (p.Trp569Leu) c.1829G>T (p.Trp610Leu) c.1319G>T (p.Trp440Leu) c.1496G>T (p.Trp499Leu) c.1490G>T (p.Trp497Leu) c.1031G>T (p.Trp344Leu) c.560G>T (p.Trp187Leu) n.1992G>T n.2159G>T c.1907G>T (p.Trp636Leu) c.599G>T (p.Trp200Leu) n.2209G>T n.2182G>T | |
8 | g.141168315dup | CA2839052565 | DENND3 | c.2065dup (p.Glu689GlyfsTer4) c.1825dup (p.Glu609GlyfsTer4) c.1669dup (p.Glu557GlyfsTer4) c.1838dup n.1606dup c.1864dup (p.Glu622GlyfsTer4) c.1708dup (p.Glu570GlyfsTer4) c.1831dup (p.Glu611GlyfsTer4) c.1321dup (p.Glu441GlyfsTer4) c.1498dup (p.Glu500GlyfsTer4) c.1492dup (p.Glu498GlyfsTer4) c.1033dup (p.Glu345GlyfsTer4) c.562dup (p.Glu188GlyfsTer4) n.1994dup n.2161dup c.1909dup (p.Glu637GlyfsTer4) c.601dup (p.Glu201GlyfsTer4) n.2211dup n.2184dup | |
8 | g.141168314G>A | CA372344133 | DENND3 | c.2064G>A (p.Trp688Ter) c.1824G>A (p.Trp608Ter) c.1668G>A (p.Trp556Ter) c.1837G>A n.1605G>A c.1863G>A (p.Trp621Ter) c.1707G>A (p.Trp569Ter) c.1830G>A (p.Trp610Ter) c.1320G>A (p.Trp440Ter) c.1497G>A (p.Trp499Ter) c.1491G>A (p.Trp497Ter) c.1032G>A (p.Trp344Ter) c.561G>A (p.Trp187Ter) n.1993G>A n.2160G>A c.1908G>A (p.Trp636Ter) c.600G>A (p.Trp200Ter) n.2210G>A n.2183G>A | |
8 | g.141168314G>C | CA372344134 | DENND3 | c.2064G>C (p.Trp688Cys) c.1824G>C (p.Trp608Cys) c.1668G>C (p.Trp556Cys) c.1837G>C n.1605G>C c.1863G>C (p.Trp621Cys) c.1707G>C (p.Trp569Cys) c.1830G>C (p.Trp610Cys) c.1320G>C (p.Trp440Cys) c.1497G>C (p.Trp499Cys) c.1491G>C (p.Trp497Cys) c.1032G>C (p.Trp344Cys) c.561G>C (p.Trp187Cys) n.1993G>C n.2160G>C c.1908G>C (p.Trp636Cys) c.600G>C (p.Trp200Cys) n.2210G>C n.2183G>C | |
8 | g.141168314G>T | CA372344135 | DENND3 | c.2064G>T (p.Trp688Cys) c.1824G>T (p.Trp608Cys) c.1668G>T (p.Trp556Cys) c.1837G>T n.1605G>T c.1863G>T (p.Trp621Cys) c.1707G>T (p.Trp569Cys) c.1830G>T (p.Trp610Cys) c.1320G>T (p.Trp440Cys) c.1497G>T (p.Trp499Cys) c.1491G>T (p.Trp497Cys) c.1032G>T (p.Trp344Cys) c.561G>T (p.Trp187Cys) n.1993G>T n.2160G>T c.1908G>T (p.Trp636Cys) c.600G>T (p.Trp200Cys) n.2210G>T n.2183G>T | |
8 | g.141168315G>A | CA372344136 | DENND3 | c.2065G>A (p.Glu689Lys) c.1825G>A (p.Glu609Lys) c.1669G>A (p.Glu557Lys) c.1838G>A n.1606G>A c.1864G>A (p.Glu622Lys) c.1708G>A (p.Glu570Lys) c.1831G>A (p.Glu611Lys) c.1321G>A (p.Glu441Lys) c.1498G>A (p.Glu500Lys) c.1492G>A (p.Glu498Lys) c.1033G>A (p.Glu345Lys) c.562G>A (p.Glu188Lys) n.1994G>A n.2161G>A c.1909G>A (p.Glu637Lys) c.601G>A (p.Glu201Lys) n.2211G>A n.2184G>A | |
8 | g.141168315G>C | CA372344137 | DENND3 | c.2065G>C (p.Glu689Gln) c.1825G>C (p.Glu609Gln) c.1669G>C (p.Glu557Gln) c.1838G>C n.1606G>C c.1864G>C (p.Glu622Gln) c.1708G>C (p.Glu570Gln) c.1831G>C (p.Glu611Gln) c.1321G>C (p.Glu441Gln) c.1498G>C (p.Glu500Gln) c.1492G>C (p.Glu498Gln) c.1033G>C (p.Glu345Gln) c.562G>C (p.Glu188Gln) n.1994G>C n.2161G>C c.1909G>C (p.Glu637Gln) c.601G>C (p.Glu201Gln) n.2211G>C n.2184G>C | gnomAD v4 |
8 | g.141168315G>T | CA372344138 | DENND3 | c.2065G>T (p.Glu689Ter) c.1825G>T (p.Glu609Ter) c.1669G>T (p.Glu557Ter) c.1838G>T n.1606G>T c.1864G>T (p.Glu622Ter) c.1708G>T (p.Glu570Ter) c.1831G>T (p.Glu611Ter) c.1321G>T (p.Glu441Ter) c.1498G>T (p.Glu500Ter) c.1492G>T (p.Glu498Ter) c.1033G>T (p.Glu345Ter) c.562G>T (p.Glu188Ter) n.1994G>T n.2161G>T c.1909G>T (p.Glu637Ter) c.601G>T (p.Glu201Ter) n.2211G>T n.2184G>T | |
8 | g.141168316A>C | CA372344140 | DENND3 | c.2066A>C (p.Glu689Ala) c.1826A>C (p.Glu609Ala) c.1670A>C (p.Glu557Ala) c.1839A>C n.1607A>C c.1865A>C (p.Glu622Ala) c.1709A>C (p.Glu570Ala) c.1832A>C (p.Glu611Ala) c.1322A>C (p.Glu441Ala) c.1499A>C (p.Glu500Ala) c.1493A>C (p.Glu498Ala) c.1034A>C (p.Glu345Ala) c.563A>C (p.Glu188Ala) n.1995A>C n.2162A>C c.1910A>C (p.Glu637Ala) c.602A>C (p.Glu201Ala) n.2212A>C n.2185A>C | |
8 | g.141168316A>G | CA372344141 | DENND3 | c.2066A>G (p.Glu689Gly) c.1826A>G (p.Glu609Gly) c.1670A>G (p.Glu557Gly) c.1839A>G n.1607A>G c.1865A>G (p.Glu622Gly) c.1709A>G (p.Glu570Gly) c.1832A>G (p.Glu611Gly) c.1322A>G (p.Glu441Gly) c.1499A>G (p.Glu500Gly) c.1493A>G (p.Glu498Gly) c.1034A>G (p.Glu345Gly) c.563A>G (p.Glu188Gly) n.1995A>G n.2162A>G c.1910A>G (p.Glu637Gly) c.602A>G (p.Glu201Gly) n.2212A>G n.2185A>G | dbSNP |
8 | g.141168316A>T | CA372344139 | DENND3 | c.2066A>T (p.Glu689Val) c.1826A>T (p.Glu609Val) c.1670A>T (p.Glu557Val) c.1839A>T n.1607A>T c.1865A>T (p.Glu622Val) c.1709A>T (p.Glu570Val) c.1832A>T (p.Glu611Val) c.1322A>T (p.Glu441Val) c.1499A>T (p.Glu500Val) c.1493A>T (p.Glu498Val) c.1034A>T (p.Glu345Val) c.563A>T (p.Glu188Val) n.1995A>T n.2162A>T c.1910A>T (p.Glu637Val) c.602A>T (p.Glu201Val) n.2212A>T n.2185A>T | |
8 | g.141168317G>A | CA463496938 | DENND3 | c.2067G>A (p.Glu689=) c.1827G>A (p.Glu609=) c.1671G>A (p.Glu557=) c.1840G>A n.1608G>A c.1866G>A (p.Glu622=) c.1710G>A (p.Glu570=) c.1833G>A (p.Glu611=) c.1323G>A (p.Glu441=) c.1500G>A (p.Glu500=) c.1494G>A (p.Glu498=) c.1035G>A (p.Glu345=) c.564G>A (p.Glu188=) n.1996G>A n.2163G>A c.1911G>A (p.Glu637=) c.603G>A (p.Glu201=) n.2213G>A n.2186G>A | gnomAD v4 |
8 | g.141168317G>C | CA372344142 | DENND3 | c.2067G>C (p.Glu689Asp) c.1827G>C (p.Glu609Asp) c.1671G>C (p.Glu557Asp) c.1840G>C n.1608G>C c.1866G>C (p.Glu622Asp) c.1710G>C (p.Glu570Asp) c.1833G>C (p.Glu611Asp) c.1323G>C (p.Glu441Asp) c.1500G>C (p.Glu500Asp) c.1494G>C (p.Glu498Asp) c.1035G>C (p.Glu345Asp) c.564G>C (p.Glu188Asp) n.1996G>C n.2163G>C c.1911G>C (p.Glu637Asp) c.603G>C (p.Glu201Asp) n.2213G>C n.2186G>C | |
8 | g.141168317G>T | CA372344143 | DENND3 | c.2067G>T (p.Glu689Asp) c.1827G>T (p.Glu609Asp) c.1671G>T (p.Glu557Asp) c.1840G>T n.1608G>T c.1866G>T (p.Glu622Asp) c.1710G>T (p.Glu570Asp) c.1833G>T (p.Glu611Asp) c.1323G>T (p.Glu441Asp) c.1500G>T (p.Glu500Asp) c.1494G>T (p.Glu498Asp) c.1035G>T (p.Glu345Asp) c.564G>T (p.Glu188Asp) n.1996G>T n.2163G>T c.1911G>T (p.Glu637Asp) c.603G>T (p.Glu201Asp) n.2213G>T n.2186G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168321del | CA2688780327 | DENND3 | c.2071del (p.Ala691LeufsTer7) c.1831del (p.Ala611LeufsTer7) c.1675del (p.Ala559LeufsTer7) c.1844del n.1612del c.1870del (p.Ala624LeufsTer7) c.1714del (p.Ala572LeufsTer7) c.1837del (p.Ala613LeufsTer7) c.1327del (p.Ala443LeufsTer7) c.1504del (p.Ala502LeufsTer7) c.1498del (p.Ala500LeufsTer7) c.1039del (p.Ala347LeufsTer7) c.568del (p.Ala190LeufsTer7) n.2000del n.2167del c.1915del (p.Ala639LeufsTer7) c.607del (p.Ala203LeufsTer7) n.2217del n.2190del | gnomAD v4 |
8 | g.141168318G>A | CA4896800 | DENND3 | c.2068G>A (p.Gly690Arg) c.1828G>A (p.Gly610Arg) c.1672G>A (p.Gly558Arg) c.1841G>A n.1609G>A c.1867G>A (p.Gly623Arg) c.1711G>A (p.Gly571Arg) c.1834G>A (p.Gly612Arg) c.1324G>A (p.Gly442Arg) c.1501G>A (p.Gly501Arg) c.1495G>A (p.Gly499Arg) c.1036G>A (p.Gly346Arg) c.565G>A (p.Gly189Arg) n.1997G>A n.2164G>A c.1912G>A (p.Gly638Arg) c.604G>A (p.Gly202Arg) n.2214G>A n.2187G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168318G>C | CA372344144 | DENND3 | c.2068G>C (p.Gly690Arg) c.1828G>C (p.Gly610Arg) c.1672G>C (p.Gly558Arg) c.1841G>C n.1609G>C c.1867G>C (p.Gly623Arg) c.1711G>C (p.Gly571Arg) c.1834G>C (p.Gly612Arg) c.1324G>C (p.Gly442Arg) c.1501G>C (p.Gly501Arg) c.1495G>C (p.Gly499Arg) c.1036G>C (p.Gly346Arg) c.565G>C (p.Gly189Arg) n.1997G>C n.2164G>C c.1912G>C (p.Gly638Arg) c.604G>C (p.Gly202Arg) n.2214G>C n.2187G>C | dbSNP |
8 | g.141168318G>T | CA372344145 | DENND3 | c.2068G>T (p.Gly690Trp) c.1828G>T (p.Gly610Trp) c.1672G>T (p.Gly558Trp) c.1841G>T n.1609G>T c.1867G>T (p.Gly623Trp) c.1711G>T (p.Gly571Trp) c.1834G>T (p.Gly612Trp) c.1324G>T (p.Gly442Trp) c.1501G>T (p.Gly501Trp) c.1495G>T (p.Gly499Trp) c.1036G>T (p.Gly346Trp) c.565G>T (p.Gly189Trp) n.1997G>T n.2164G>T c.1912G>T (p.Gly638Trp) c.604G>T (p.Gly202Trp) n.2214G>T n.2187G>T | |
8 | g.141168320_141168336dup | CA2579262222 | DENND3 | c.2070_2086dup (p.Glu696GlyfsTer8) c.1830_1846dup (p.Glu616GlyfsTer8) c.1674_1690dup (p.Glu564GlyfsTer8) c.1843_1859dup n.1611_1627dup c.1869_1885dup (p.Glu629GlyfsTer8) c.1713_1729dup (p.Glu577GlyfsTer8) c.1836_1852dup (p.Glu618GlyfsTer8) c.1326_1342dup (p.Glu448GlyfsTer8) c.1503_1519dup (p.Glu507GlyfsTer8) c.1497_1513dup (p.Glu505GlyfsTer8) c.1038_1054dup (p.Glu352GlyfsTer8) c.567_583dup (p.Glu195GlyfsTer8) n.1999_2015dup n.2166_2182dup c.1914_1930dup (p.Glu644GlyfsTer8) c.606_622dup (p.Glu208GlyfsTer8) n.2216_2232dup n.2189_2205dup | gnomAD v4 |
8 | g.141168319G>A | CA372344148 | DENND3 | c.2069G>A (p.Gly690Glu) c.1829G>A (p.Gly610Glu) c.1673G>A (p.Gly558Glu) c.1842G>A n.1610G>A c.1868G>A (p.Gly623Glu) c.1712G>A (p.Gly571Glu) c.1835G>A (p.Gly612Glu) c.1325G>A (p.Gly442Glu) c.1502G>A (p.Gly501Glu) c.1496G>A (p.Gly499Glu) c.1037G>A (p.Gly346Glu) c.566G>A (p.Gly189Glu) n.1998G>A n.2165G>A c.1913G>A (p.Gly638Glu) c.605G>A (p.Gly202Glu) n.2215G>A n.2188G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.141168319G>C | CA372344147 | DENND3 | c.2069G>C (p.Gly690Ala) c.1829G>C (p.Gly610Ala) c.1673G>C (p.Gly558Ala) c.1842G>C n.1610G>C c.1868G>C (p.Gly623Ala) c.1712G>C (p.Gly571Ala) c.1835G>C (p.Gly612Ala) c.1325G>C (p.Gly442Ala) c.1502G>C (p.Gly501Ala) c.1496G>C (p.Gly499Ala) c.1037G>C (p.Gly346Ala) c.566G>C (p.Gly189Ala) n.1998G>C n.2165G>C c.1913G>C (p.Gly638Ala) c.605G>C (p.Gly202Ala) n.2215G>C n.2188G>C | |
8 | g.141168319G>T | CA372344146 | DENND3 | c.2069G>T (p.Gly690Val) c.1829G>T (p.Gly610Val) c.1673G>T (p.Gly558Val) c.1842G>T n.1610G>T c.1868G>T (p.Gly623Val) c.1712G>T (p.Gly571Val) c.1835G>T (p.Gly612Val) c.1325G>T (p.Gly442Val) c.1502G>T (p.Gly501Val) c.1496G>T (p.Gly499Val) c.1037G>T (p.Gly346Val) c.566G>T (p.Gly189Val) n.1998G>T n.2165G>T c.1913G>T (p.Gly638Val) c.605G>T (p.Gly202Val) n.2215G>T n.2188G>T | |
8 | g.141168320G>A | CA463496939 | DENND3 | c.2070G>A (p.Gly690=) c.1830G>A (p.Gly610=) c.1674G>A (p.Gly558=) c.1843G>A n.1611G>A c.1869G>A (p.Gly623=) c.1713G>A (p.Gly571=) c.1836G>A (p.Gly612=) c.1326G>A (p.Gly442=) c.1503G>A (p.Gly501=) c.1497G>A (p.Gly499=) c.1038G>A (p.Gly346=) c.567G>A (p.Gly189=) n.1999G>A n.2166G>A c.1914G>A (p.Gly638=) c.606G>A (p.Gly202=) n.2216G>A n.2189G>A | |
8 | g.141168320G>C | CA463496940 | DENND3 | c.2070G>C (p.Gly690=) c.1830G>C (p.Gly610=) c.1674G>C (p.Gly558=) c.1843G>C n.1611G>C c.1869G>C (p.Gly623=) c.1713G>C (p.Gly571=) c.1836G>C (p.Gly612=) c.1326G>C (p.Gly442=) c.1503G>C (p.Gly501=) c.1497G>C (p.Gly499=) c.1038G>C (p.Gly346=) c.567G>C (p.Gly189=) n.1999G>C n.2166G>C c.1914G>C (p.Gly638=) c.606G>C (p.Gly202=) n.2216G>C n.2189G>C | |
8 | g.141168320G>T | CA463496941 | DENND3 | c.2070G>T (p.Gly690=) c.1830G>T (p.Gly610=) c.1674G>T (p.Gly558=) c.1843G>T n.1611G>T c.1869G>T (p.Gly623=) c.1713G>T (p.Gly571=) c.1836G>T (p.Gly612=) c.1326G>T (p.Gly442=) c.1503G>T (p.Gly501=) c.1497G>T (p.Gly499=) c.1038G>T (p.Gly346=) c.567G>T (p.Gly189=) n.1999G>T n.2166G>T c.1914G>T (p.Gly638=) c.606G>T (p.Gly202=) n.2216G>T n.2189G>T | |
8 | g.141168321G>A | CA372344149 | DENND3 | c.2071G>A (p.Ala691Thr) c.1831G>A (p.Ala611Thr) c.1675G>A (p.Ala559Thr) c.1844G>A n.1612G>A c.1870G>A (p.Ala624Thr) c.1714G>A (p.Ala572Thr) c.1837G>A (p.Ala613Thr) c.1327G>A (p.Ala443Thr) c.1504G>A (p.Ala502Thr) c.1498G>A (p.Ala500Thr) c.1039G>A (p.Ala347Thr) c.568G>A (p.Ala190Thr) n.2000G>A n.2167G>A c.1915G>A (p.Ala639Thr) c.607G>A (p.Ala203Thr) n.2217G>A n.2190G>A | dbSNP |
8 | g.141168321G>C | CA372344150 | DENND3 | c.2071G>C (p.Ala691Pro) c.1831G>C (p.Ala611Pro) c.1675G>C (p.Ala559Pro) c.1844G>C n.1612G>C c.1870G>C (p.Ala624Pro) c.1714G>C (p.Ala572Pro) c.1837G>C (p.Ala613Pro) c.1327G>C (p.Ala443Pro) c.1504G>C (p.Ala502Pro) c.1498G>C (p.Ala500Pro) c.1039G>C (p.Ala347Pro) c.568G>C (p.Ala190Pro) n.2000G>C n.2167G>C c.1915G>C (p.Ala639Pro) c.607G>C (p.Ala203Pro) n.2217G>C n.2190G>C | |
8 | g.141168321G>T | CA372344151 | DENND3 | c.2071G>T (p.Ala691Ser) c.1831G>T (p.Ala611Ser) c.1675G>T (p.Ala559Ser) c.1844G>T n.1612G>T c.1870G>T (p.Ala624Ser) c.1714G>T (p.Ala572Ser) c.1837G>T (p.Ala613Ser) c.1327G>T (p.Ala443Ser) c.1504G>T (p.Ala502Ser) c.1498G>T (p.Ala500Ser) c.1039G>T (p.Ala347Ser) c.568G>T (p.Ala190Ser) n.2000G>T n.2167G>T c.1915G>T (p.Ala639Ser) c.607G>T (p.Ala203Ser) n.2217G>T n.2190G>T | |
8 | g.141168322C>A | CA372344152 | DENND3 | c.2072C>A (p.Ala691Asp) c.1832C>A (p.Ala611Asp) c.1676C>A (p.Ala559Asp) c.1845C>A n.1613C>A c.1871C>A (p.Ala624Asp) c.1715C>A (p.Ala572Asp) c.1838C>A (p.Ala613Asp) c.1328C>A (p.Ala443Asp) c.1505C>A (p.Ala502Asp) c.1499C>A (p.Ala500Asp) c.1040C>A (p.Ala347Asp) c.569C>A (p.Ala190Asp) n.2001C>A n.2168C>A c.1916C>A (p.Ala639Asp) c.608C>A (p.Ala203Asp) n.2218C>A n.2191C>A | |
8 | g.141168322C>G | CA372344153 | DENND3 | c.2072C>G (p.Ala691Gly) c.1832C>G (p.Ala611Gly) c.1676C>G (p.Ala559Gly) c.1845C>G n.1613C>G c.1871C>G (p.Ala624Gly) c.1715C>G (p.Ala572Gly) c.1838C>G (p.Ala613Gly) c.1328C>G (p.Ala443Gly) c.1505C>G (p.Ala502Gly) c.1499C>G (p.Ala500Gly) c.1040C>G (p.Ala347Gly) c.569C>G (p.Ala190Gly) n.2001C>G n.2168C>G c.1916C>G (p.Ala639Gly) c.608C>G (p.Ala203Gly) n.2218C>G n.2191C>G | |
8 | g.141168322C>T | CA372344154 | DENND3 | c.2072C>T (p.Ala691Val) c.1832C>T (p.Ala611Val) c.1676C>T (p.Ala559Val) c.1845C>T n.1613C>T c.1871C>T (p.Ala624Val) c.1715C>T (p.Ala572Val) c.1838C>T (p.Ala613Val) c.1328C>T (p.Ala443Val) c.1505C>T (p.Ala502Val) c.1499C>T (p.Ala500Val) c.1040C>T (p.Ala347Val) c.569C>T (p.Ala190Val) n.2001C>T n.2168C>T c.1916C>T (p.Ala639Val) c.608C>T (p.Ala203Val) n.2218C>T n.2191C>T | |
8 | g.141168323T>A | CA463496942 | DENND3 | c.2073T>A (p.Ala691=) c.1833T>A (p.Ala611=) c.1677T>A (p.Ala559=) c.1846T>A n.1614T>A c.1872T>A (p.Ala624=) c.1716T>A (p.Ala572=) c.1839T>A (p.Ala613=) c.1329T>A (p.Ala443=) c.1506T>A (p.Ala502=) c.1500T>A (p.Ala500=) c.1041T>A (p.Ala347=) c.570T>A (p.Ala190=) n.2002T>A n.2169T>A c.1917T>A (p.Ala639=) c.609T>A (p.Ala203=) n.2219T>A n.2192T>A | |
8 | g.141168323T>C | CA463496943 | DENND3 | c.2073T>C (p.Ala691=) c.1833T>C (p.Ala611=) c.1677T>C (p.Ala559=) c.1846T>C n.1614T>C c.1872T>C (p.Ala624=) c.1716T>C (p.Ala572=) c.1839T>C (p.Ala613=) c.1329T>C (p.Ala443=) c.1506T>C (p.Ala502=) c.1500T>C (p.Ala500=) c.1041T>C (p.Ala347=) c.570T>C (p.Ala190=) n.2002T>C n.2169T>C c.1917T>C (p.Ala639=) c.609T>C (p.Ala203=) n.2219T>C n.2192T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.141168323T>G | CA463496944 | DENND3 | c.2073T>G (p.Ala691=) c.1833T>G (p.Ala611=) c.1677T>G (p.Ala559=) c.1846T>G n.1614T>G c.1872T>G (p.Ala624=) c.1716T>G (p.Ala572=) c.1839T>G (p.Ala613=) c.1329T>G (p.Ala443=) c.1506T>G (p.Ala502=) c.1500T>G (p.Ala500=) c.1041T>G (p.Ala347=) c.570T>G (p.Ala190=) n.2002T>G n.2169T>G c.1917T>G (p.Ala639=) c.609T>G (p.Ala203=) n.2219T>G n.2192T>G |