Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
18 | g.33739346_33739348del | CA2580612978 | ASXL3 | c.1945_1947del (p.Thr649del) c.1942_1944del (p.Thr648del) c.*1066_*1068del (n.*1066_*1068del) c.*1601_*1603del (n.*1601_*1603del) c.2154_2156del (n.2154_2156del) c.1774_1776del (p.Thr592del) c.1822_1824del (p.Thr608del) c.1918_1920del (p.Thr640del) c.1864_1866del (p.Thr622del) c.1825_1827del (p.Thr609del) | ClinVar |
18 | g.33739348A>C | CA503768973 | ASXL3 | c.1947A>C (p.Thr649=) c.1944A>C (p.Thr648=) c.*1068A>C (n.*1068A>C) c.*1603A>C (n.*1603A>C) c.2156A>C (n.2156A>C) c.1776A>C (p.Thr592=) c.1824A>C (p.Thr608=) c.1920A>C (p.Thr640=) c.1866A>C (p.Thr622=) c.1827A>C (p.Thr609=) | |
18 | g.33739348A>G | CA503768975 | ASXL3 | c.1947A>G (p.Thr649=) c.1944A>G (p.Thr648=) c.*1068A>G (n.*1068A>G) c.*1603A>G (n.*1603A>G) c.2156A>G (n.2156A>G) c.1776A>G (p.Thr592=) c.1824A>G (p.Thr608=) c.1920A>G (p.Thr640=) c.1866A>G (p.Thr622=) c.1827A>G (p.Thr609=) | |
18 | g.33739348A>T | CA503768976 | ASXL3 | c.1947A>T (p.Thr649=) c.1944A>T (p.Thr648=) c.*1068A>T (n.*1068A>T) c.*1603A>T (n.*1603A>T) c.2156A>T (n.2156A>T) c.1776A>T (p.Thr592=) c.1824A>T (p.Thr608=) c.1920A>T (p.Thr640=) c.1866A>T (p.Thr622=) c.1827A>T (p.Thr609=) | |
18 | g.33739349T>A | CA297787140 | ASXL3 | c.1948T>A (p.Phe650Ile) c.1945T>A (p.Phe649Ile) c.*1069T>A (n.*1069T>A) c.*1604T>A (n.*1604T>A) c.2157T>A (n.2157T>A) c.1777T>A (p.Phe593Ile) c.1825T>A (p.Phe609Ile) c.1921T>A (p.Phe641Ile) c.1867T>A (p.Phe623Ile) c.1828T>A (p.Phe610Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739349T>C | CA402176928 | ASXL3 | c.1948T>C (p.Phe650Leu) c.1945T>C (p.Phe649Leu) c.*1069T>C (n.*1069T>C) c.*1604T>C (n.*1604T>C) c.2157T>C (n.2157T>C) c.1777T>C (p.Phe593Leu) c.1825T>C (p.Phe609Leu) c.1921T>C (p.Phe641Leu) c.1867T>C (p.Phe623Leu) c.1828T>C (p.Phe610Leu) | gnomAD v4 |
18 | g.33739349T>G | CA402176929 | ASXL3 | c.1948T>G (p.Phe650Val) c.1945T>G (p.Phe649Val) c.*1069T>G (n.*1069T>G) c.*1604T>G (n.*1604T>G) c.2157T>G (n.2157T>G) c.1777T>G (p.Phe593Val) c.1825T>G (p.Phe609Val) c.1921T>G (p.Phe641Val) c.1867T>G (p.Phe623Val) c.1828T>G (p.Phe610Val) | dbSNP |
18 | g.33739349T= | CA2294855940 | ASXL3 | c.1948T= (p.Phe650=) c.1945T= (p.Phe649=) c.*1069T= (n.*1069T=) c.*1604T= (n.*1604T=) c.2157T= (n.2157T=) c.1777T= (p.Phe593=) c.1825T= (p.Phe609=) c.1921T= (p.Phe641=) c.1867T= (p.Phe623=) c.1828T= (p.Phe610=) | |
18 | g.33739350T>A | CA402176930 | ASXL3 | c.1949T>A (p.Phe650Tyr) c.1946T>A (p.Phe649Tyr) c.*1070T>A (n.*1070T>A) c.*1605T>A (n.*1605T>A) c.2158T>A (n.2158T>A) c.1778T>A (p.Phe593Tyr) c.1826T>A (p.Phe609Tyr) c.1922T>A (p.Phe641Tyr) c.1868T>A (p.Phe623Tyr) c.1829T>A (p.Phe610Tyr) | |
18 | g.33739350T>C | CA402176932 | ASXL3 | c.1949T>C (p.Phe650Ser) c.1946T>C (p.Phe649Ser) c.*1070T>C (n.*1070T>C) c.*1605T>C (n.*1605T>C) c.2158T>C (n.2158T>C) c.1778T>C (p.Phe593Ser) c.1826T>C (p.Phe609Ser) c.1922T>C (p.Phe641Ser) c.1868T>C (p.Phe623Ser) c.1829T>C (p.Phe610Ser) | |
18 | g.33739350T>G | CA402176931 | ASXL3 | c.1949T>G (p.Phe650Cys) c.1946T>G (p.Phe649Cys) c.*1070T>G (n.*1070T>G) c.*1605T>G (n.*1605T>G) c.2158T>G (n.2158T>G) c.1778T>G (p.Phe593Cys) c.1826T>G (p.Phe609Cys) c.1922T>G (p.Phe641Cys) c.1868T>G (p.Phe623Cys) c.1829T>G (p.Phe610Cys) | |
18 | g.33739351T>A | CA402176933 | ASXL3 | c.1950T>A (p.Phe650Leu) c.1947T>A (p.Phe649Leu) c.*1071T>A (n.*1071T>A) c.*1606T>A (n.*1606T>A) c.2159T>A (n.2159T>A) c.1779T>A (p.Phe593Leu) c.1827T>A (p.Phe609Leu) c.1923T>A (p.Phe641Leu) c.1869T>A (p.Phe623Leu) c.1830T>A (p.Phe610Leu) | |
18 | g.33739351T>C | CA503768638 | ASXL3 | c.1950T>C (p.Phe650=) c.1947T>C (p.Phe649=) c.*1071T>C (n.*1071T>C) c.*1606T>C (n.*1606T>C) c.2159T>C (n.2159T>C) c.1779T>C (p.Phe593=) c.1827T>C (p.Phe609=) c.1923T>C (p.Phe641=) c.1869T>C (p.Phe623=) c.1830T>C (p.Phe610=) | |
18 | g.33739351T>G | CA402176934 | ASXL3 | c.1950T>G (p.Phe650Leu) c.1947T>G (p.Phe649Leu) c.*1071T>G (n.*1071T>G) c.*1606T>G (n.*1606T>G) c.2159T>G (n.2159T>G) c.1779T>G (p.Phe593Leu) c.1827T>G (p.Phe609Leu) c.1923T>G (p.Phe641Leu) c.1869T>G (p.Phe623Leu) c.1830T>G (p.Phe610Leu) | |
18 | g.33739352T>A | CA402176935 | ASXL3 | c.1951T>A (p.Cys651Ser) c.1948T>A (p.Cys650Ser) c.*1072T>A (n.*1072T>A) c.*1607T>A (n.*1607T>A) c.2160T>A (n.2160T>A) c.1780T>A (p.Cys594Ser) c.1828T>A (p.Cys610Ser) c.1924T>A (p.Cys642Ser) c.1870T>A (p.Cys624Ser) c.1831T>A (p.Cys611Ser) | |
18 | g.33739352T>C | CA402176937 | ASXL3 | c.1951T>C (p.Cys651Arg) c.1948T>C (p.Cys650Arg) c.*1072T>C (n.*1072T>C) c.*1607T>C (n.*1607T>C) c.2160T>C (n.2160T>C) c.1780T>C (p.Cys594Arg) c.1828T>C (p.Cys610Arg) c.1924T>C (p.Cys642Arg) c.1870T>C (p.Cys624Arg) c.1831T>C (p.Cys611Arg) | |
18 | g.33739352T>G | CA402176936 | ASXL3 | c.1951T>G (p.Cys651Gly) c.1948T>G (p.Cys650Gly) c.*1072T>G (n.*1072T>G) c.*1607T>G (n.*1607T>G) c.2160T>G (n.2160T>G) c.1780T>G (p.Cys594Gly) c.1828T>G (p.Cys610Gly) c.1924T>G (p.Cys642Gly) c.1870T>G (p.Cys624Gly) c.1831T>G (p.Cys611Gly) | |
18 | g.33739353G>A | CA402176938 | ASXL3 | c.1952G>A (p.Cys651Tyr) c.1949G>A (p.Cys650Tyr) c.*1073G>A (n.*1073G>A) c.*1608G>A (n.*1608G>A) c.2161G>A (n.2161G>A) c.1781G>A (p.Cys594Tyr) c.1829G>A (p.Cys610Tyr) c.1925G>A (p.Cys642Tyr) c.1871G>A (p.Cys624Tyr) c.1832G>A (p.Cys611Tyr) | |
18 | g.33739353G>C | CA402176940 | ASXL3 | c.1952G>C (p.Cys651Ser) c.1949G>C (p.Cys650Ser) c.*1073G>C (n.*1073G>C) c.*1608G>C (n.*1608G>C) c.2161G>C (n.2161G>C) c.1781G>C (p.Cys594Ser) c.1829G>C (p.Cys610Ser) c.1925G>C (p.Cys642Ser) c.1871G>C (p.Cys624Ser) c.1832G>C (p.Cys611Ser) | |
18 | g.33739353G= | CA2294855941 | ASXL3 | c.1952G= (p.Cys651=) c.1949G= (p.Cys650=) c.*1073G= (n.*1073G=) c.*1608G= (n.*1608G=) c.2161G= (n.2161G=) c.1781G= (p.Cys594=) c.1829G= (p.Cys610=) c.1925G= (p.Cys642=) c.1871G= (p.Cys624=) c.1832G= (p.Cys611=) | |
18 | g.33739353G>T | CA402176939 | ASXL3 | c.1952G>T (p.Cys651Phe) c.1949G>T (p.Cys650Phe) c.*1073G>T (n.*1073G>T) c.*1608G>T (n.*1608G>T) c.2161G>T (n.2161G>T) c.1781G>T (p.Cys594Phe) c.1829G>T (p.Cys610Phe) c.1925G>T (p.Cys642Phe) c.1871G>T (p.Cys624Phe) c.1832G>T (p.Cys611Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739354T>A | CA402176941 | ASXL3 | c.1953T>A (p.Cys651Ter) c.1950T>A (p.Cys650Ter) c.*1074T>A (n.*1074T>A) c.*1609T>A (n.*1609T>A) c.2162T>A (n.2162T>A) c.1782T>A (p.Cys594Ter) c.1830T>A (p.Cys610Ter) c.1926T>A (p.Cys642Ter) c.1872T>A (p.Cys624Ter) c.1833T>A (p.Cys611Ter) | |
18 | g.33739354T>C | CA503768644 | ASXL3 | c.1953T>C (p.Cys651=) c.1950T>C (p.Cys650=) c.*1074T>C (n.*1074T>C) c.*1609T>C (n.*1609T>C) c.2162T>C (n.2162T>C) c.1782T>C (p.Cys594=) c.1830T>C (p.Cys610=) c.1926T>C (p.Cys642=) c.1872T>C (p.Cys624=) c.1833T>C (p.Cys611=) | |
18 | g.33739354T>G | CA402176942 | ASXL3 | c.1953T>G (p.Cys651Trp) c.1950T>G (p.Cys650Trp) c.*1074T>G (n.*1074T>G) c.*1609T>G (n.*1609T>G) c.2162T>G (n.2162T>G) c.1782T>G (p.Cys594Trp) c.1830T>G (p.Cys610Trp) c.1926T>G (p.Cys642Trp) c.1872T>G (p.Cys624Trp) c.1833T>G (p.Cys611Trp) | |
18 | g.33739355T>A | CA402176943 | ASXL3 | c.1954T>A (p.Ser652Thr) c.1951T>A (p.Ser651Thr) c.*1075T>A (n.*1075T>A) c.*1610T>A (n.*1610T>A) c.2163T>A (n.2163T>A) c.1783T>A (p.Ser595Thr) c.1831T>A (p.Ser611Thr) c.1927T>A (p.Ser643Thr) c.1873T>A (p.Ser625Thr) c.1834T>A (p.Ser612Thr) | |
18 | g.33739355T>C | CA402176944 | ASXL3 | c.1954T>C (p.Ser652Pro) c.1951T>C (p.Ser651Pro) c.*1075T>C (n.*1075T>C) c.*1610T>C (n.*1610T>C) c.2163T>C (n.2163T>C) c.1783T>C (p.Ser595Pro) c.1831T>C (p.Ser611Pro) c.1927T>C (p.Ser643Pro) c.1873T>C (p.Ser625Pro) c.1834T>C (p.Ser612Pro) | |
18 | g.33739355T>G | CA402176945 | ASXL3 | c.1954T>G (p.Ser652Ala) c.1951T>G (p.Ser651Ala) c.*1075T>G (n.*1075T>G) c.*1610T>G (n.*1610T>G) c.2163T>G (n.2163T>G) c.1783T>G (p.Ser595Ala) c.1831T>G (p.Ser611Ala) c.1927T>G (p.Ser643Ala) c.1873T>G (p.Ser625Ala) c.1834T>G (p.Ser612Ala) | |
18 | g.33739356C>A | CA402176946 | ASXL3 | c.1955C>A (p.Ser652Tyr) c.1952C>A (p.Ser651Tyr) c.*1076C>A (n.*1076C>A) c.*1611C>A (n.*1611C>A) c.2164C>A (n.2164C>A) c.1784C>A (p.Ser595Tyr) c.1832C>A (p.Ser611Tyr) c.1928C>A (p.Ser643Tyr) c.1874C>A (p.Ser625Tyr) c.1835C>A (p.Ser612Tyr) | |
18 | g.33739356C= | CA2294855942 | ASXL3 | c.1955C= (p.Ser652=) c.1952C= (p.Ser651=) c.*1076C= (n.*1076C=) c.*1611C= (n.*1611C=) c.2164C= (n.2164C=) c.1784C= (p.Ser595=) c.1832C= (p.Ser611=) c.1928C= (p.Ser643=) c.1874C= (p.Ser625=) c.1835C= (p.Ser612=) | |
18 | g.33739356C>G | CA402176947 | ASXL3 | c.1955C>G (p.Ser652Cys) c.1952C>G (p.Ser651Cys) c.*1076C>G (n.*1076C>G) c.*1611C>G (n.*1611C>G) c.2164C>G (n.2164C>G) c.1784C>G (p.Ser595Cys) c.1832C>G (p.Ser611Cys) c.1928C>G (p.Ser643Cys) c.1874C>G (p.Ser625Cys) c.1835C>G (p.Ser612Cys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739356C>T | CA402176948 | ASXL3 | c.1955C>T (p.Ser652Phe) c.1952C>T (p.Ser651Phe) c.*1076C>T (n.*1076C>T) c.*1611C>T (n.*1611C>T) c.2164C>T (n.2164C>T) c.1784C>T (p.Ser595Phe) c.1832C>T (p.Ser611Phe) c.1928C>T (p.Ser643Phe) c.1874C>T (p.Ser625Phe) c.1835C>T (p.Ser612Phe) | dbSNP |
18 | g.33739357T>A | CA503768651 | ASXL3 | c.1956T>A (p.Ser652=) c.1953T>A (p.Ser651=) c.*1077T>A (n.*1077T>A) c.*1612T>A (n.*1612T>A) c.2165T>A (n.2165T>A) c.1785T>A (p.Ser595=) c.1833T>A (p.Ser611=) c.1929T>A (p.Ser643=) c.1875T>A (p.Ser625=) c.1836T>A (p.Ser612=) | |
18 | g.33739357T>C | CA503768652 | ASXL3 | c.1956T>C (p.Ser652=) c.1953T>C (p.Ser651=) c.*1077T>C (n.*1077T>C) c.*1612T>C (n.*1612T>C) c.2165T>C (n.2165T>C) c.1785T>C (p.Ser595=) c.1833T>C (p.Ser611=) c.1929T>C (p.Ser643=) c.1875T>C (p.Ser625=) c.1836T>C (p.Ser612=) | |
18 | g.33739357T>G | CA503768654 | ASXL3 | c.1956T>G (p.Ser652=) c.1953T>G (p.Ser651=) c.*1077T>G (n.*1077T>G) c.*1612T>G (n.*1612T>G) c.2165T>G (n.2165T>G) c.1785T>G (p.Ser595=) c.1833T>G (p.Ser611=) c.1929T>G (p.Ser643=) c.1875T>G (p.Ser625=) c.1836T>G (p.Ser612=) | |
18 | g.33739358G>A | CA402176949 | ASXL3 | c.1957G>A (p.Glu653Lys) c.1954G>A (p.Glu652Lys) c.*1078G>A (n.*1078G>A) c.*1613G>A (n.*1613G>A) c.2166G>A (n.2166G>A) c.1786G>A (p.Glu596Lys) c.1834G>A (p.Glu612Lys) c.1930G>A (p.Glu644Lys) c.1876G>A (p.Glu626Lys) c.1837G>A (p.Glu613Lys) | |
18 | g.33739358G>C | CA402176950 | ASXL3 | c.1957G>C (p.Glu653Gln) c.1954G>C (p.Glu652Gln) c.*1078G>C (n.*1078G>C) c.*1613G>C (n.*1613G>C) c.2166G>C (n.2166G>C) c.1786G>C (p.Glu596Gln) c.1834G>C (p.Glu612Gln) c.1930G>C (p.Glu644Gln) c.1876G>C (p.Glu626Gln) c.1837G>C (p.Glu613Gln) | |
18 | g.33739358G>T | CA402176951 | ASXL3 | c.1957G>T (p.Glu653Ter) c.1954G>T (p.Glu652Ter) c.*1078G>T (n.*1078G>T) c.*1613G>T (n.*1613G>T) c.2166G>T (n.2166G>T) c.1786G>T (p.Glu596Ter) c.1834G>T (p.Glu612Ter) c.1930G>T (p.Glu644Ter) c.1876G>T (p.Glu626Ter) c.1837G>T (p.Glu613Ter) | |
18 | g.33739359A>C | CA402176954 | ASXL3 | c.1958A>C (p.Glu653Ala) c.1955A>C (p.Glu652Ala) c.*1079A>C (n.*1079A>C) c.*1614A>C (n.*1614A>C) c.2167A>C (n.2167A>C) c.1787A>C (p.Glu596Ala) c.1835A>C (p.Glu612Ala) c.1931A>C (p.Glu644Ala) c.1877A>C (p.Glu626Ala) c.1838A>C (p.Glu613Ala) | |
18 | g.33739359A>G | CA402176953 | ASXL3 | c.1958A>G (p.Glu653Gly) c.1955A>G (p.Glu652Gly) c.*1079A>G (n.*1079A>G) c.*1614A>G (n.*1614A>G) c.2167A>G (n.2167A>G) c.1787A>G (p.Glu596Gly) c.1835A>G (p.Glu612Gly) c.1931A>G (p.Glu644Gly) c.1877A>G (p.Glu626Gly) c.1838A>G (p.Glu613Gly) | |
18 | g.33739359A>T | CA402176952 | ASXL3 | c.1958A>T (p.Glu653Val) c.1955A>T (p.Glu652Val) c.*1079A>T (n.*1079A>T) c.*1614A>T (n.*1614A>T) c.2167A>T (n.2167A>T) c.1787A>T (p.Glu596Val) c.1835A>T (p.Glu612Val) c.1931A>T (p.Glu644Val) c.1877A>T (p.Glu626Val) c.1838A>T (p.Glu613Val) | |
18 | g.33739360G>A | CA503768658 | ASXL3 | c.1959G>A (p.Glu653=) c.1956G>A (p.Glu652=) c.*1080G>A (n.*1080G>A) c.*1615G>A (n.*1615G>A) c.2168G>A (n.2168G>A) c.1788G>A (p.Glu596=) c.1836G>A (p.Glu612=) c.1932G>A (p.Glu644=) c.1878G>A (p.Glu626=) c.1839G>A (p.Glu613=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739360G>C | CA402176955 | ASXL3 | c.1959G>C (p.Glu653Asp) c.1956G>C (p.Glu652Asp) c.*1080G>C (n.*1080G>C) c.*1615G>C (n.*1615G>C) c.2168G>C (n.2168G>C) c.1788G>C (p.Glu596Asp) c.1836G>C (p.Glu612Asp) c.1932G>C (p.Glu644Asp) c.1878G>C (p.Glu626Asp) c.1839G>C (p.Glu613Asp) | dbSNP |
18 | g.33739360G= | CA2294855943 | ASXL3 | c.1959G= (p.Glu653=) c.1956G= (p.Glu652=) c.*1080G= (n.*1080G=) c.*1615G= (n.*1615G=) c.2168G= (n.2168G=) c.1788G= (p.Glu596=) c.1836G= (p.Glu612=) c.1932G= (p.Glu644=) c.1878G= (p.Glu626=) c.1839G= (p.Glu613=) | |
18 | g.33739360G>T | CA402176956 | ASXL3 | c.1959G>T (p.Glu653Asp) c.1956G>T (p.Glu652Asp) c.*1080G>T (n.*1080G>T) c.*1615G>T (n.*1615G>T) c.2168G>T (n.2168G>T) c.1788G>T (p.Glu596Asp) c.1836G>T (p.Glu612Asp) c.1932G>T (p.Glu644Asp) c.1878G>T (p.Glu626Asp) c.1839G>T (p.Glu613Asp) | COSMIC COSMIC |
18 | g.33739361G>A | CA8933842 | ASXL3 | c.1960G>A (p.Val654Ile) c.1957G>A (p.Val653Ile) c.*1081G>A (n.*1081G>A) c.*1616G>A (n.*1616G>A) c.2169G>A (n.2169G>A) c.1789G>A (p.Val597Ile) c.1837G>A (p.Val613Ile) c.1933G>A (p.Val645Ile) c.1879G>A (p.Val627Ile) c.1840G>A (p.Val614Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739361G>C | CA402176957 | ASXL3 | c.1960G>C (p.Val654Leu) c.1957G>C (p.Val653Leu) c.*1081G>C (n.*1081G>C) c.*1616G>C (n.*1616G>C) c.2169G>C (n.2169G>C) c.1789G>C (p.Val597Leu) c.1837G>C (p.Val613Leu) c.1933G>C (p.Val645Leu) c.1879G>C (p.Val627Leu) c.1840G>C (p.Val614Leu) | |
18 | g.33739361G= | CA2294855944 | ASXL3 | c.1960G= (p.Val654=) c.1957G= (p.Val653=) c.*1081G= (n.*1081G=) c.*1616G= (n.*1616G=) c.2169G= (n.2169G=) c.1789G= (p.Val597=) c.1837G= (p.Val613=) c.1933G= (p.Val645=) c.1879G= (p.Val627=) c.1840G= (p.Val614=) | |
18 | g.33739361G>T | CA402176958 | ASXL3 | c.1960G>T (p.Val654Leu) c.1957G>T (p.Val653Leu) c.*1081G>T (n.*1081G>T) c.*1616G>T (n.*1616G>T) c.2169G>T (n.2169G>T) c.1789G>T (p.Val597Leu) c.1837G>T (p.Val613Leu) c.1933G>T (p.Val645Leu) c.1879G>T (p.Val627Leu) c.1840G>T (p.Val614Leu) | gnomAD v4 |
18 | g.33739362T>A | CA402176959 | ASXL3 | c.1961T>A (p.Val654Glu) c.1958T>A (p.Val653Glu) c.*1082T>A (n.*1082T>A) c.*1617T>A (n.*1617T>A) c.2170T>A (n.2170T>A) c.1790T>A (p.Val597Glu) c.1838T>A (p.Val613Glu) c.1934T>A (p.Val645Glu) c.1880T>A (p.Val627Glu) c.1841T>A (p.Val614Glu) | |
18 | g.33739362T>C | CA402176960 | ASXL3 | c.1961T>C (p.Val654Ala) c.1958T>C (p.Val653Ala) c.*1082T>C (n.*1082T>C) c.*1617T>C (n.*1617T>C) c.2170T>C (n.2170T>C) c.1790T>C (p.Val597Ala) c.1838T>C (p.Val613Ala) c.1934T>C (p.Val645Ala) c.1880T>C (p.Val627Ala) c.1841T>C (p.Val614Ala) | |
18 | g.33739362T>G | CA402176961 | ASXL3 | c.1961T>G (p.Val654Gly) c.1958T>G (p.Val653Gly) c.*1082T>G (n.*1082T>G) c.*1617T>G (n.*1617T>G) c.2170T>G (n.2170T>G) c.1790T>G (p.Val597Gly) c.1838T>G (p.Val613Gly) c.1934T>G (p.Val645Gly) c.1880T>G (p.Val627Gly) c.1841T>G (p.Val614Gly) | |
18 | g.33739363A>C | CA503768663 | ASXL3 | c.1962A>C (p.Val654=) c.1959A>C (p.Val653=) c.*1083A>C (n.*1083A>C) c.*1618A>C (n.*1618A>C) c.2171A>C (n.2171A>C) c.1791A>C (p.Val597=) c.1839A>C (p.Val613=) c.1935A>C (p.Val645=) c.1881A>C (p.Val627=) c.1842A>C (p.Val614=) | |
18 | g.33739363A>G | CA503768665 | ASXL3 | c.1962A>G (p.Val654=) c.1959A>G (p.Val653=) c.*1083A>G (n.*1083A>G) c.*1618A>G (n.*1618A>G) c.2171A>G (n.2171A>G) c.1791A>G (p.Val597=) c.1839A>G (p.Val613=) c.1935A>G (p.Val645=) c.1881A>G (p.Val627=) c.1842A>G (p.Val614=) | |
18 | g.33739363A>T | CA503768667 | ASXL3 | c.1962A>T (p.Val654=) c.1959A>T (p.Val653=) c.*1083A>T (n.*1083A>T) c.*1618A>T (n.*1618A>T) c.2171A>T (n.2171A>T) c.1791A>T (p.Val597=) c.1839A>T (p.Val613=) c.1935A>T (p.Val645=) c.1881A>T (p.Val627=) c.1842A>T (p.Val614=) | |
18 | g.33739364T>A | CA8933843 | ASXL3 | c.1963T>A (p.Ser655Thr) c.1960T>A (p.Ser654Thr) c.*1084T>A (n.*1084T>A) c.*1619T>A (n.*1619T>A) c.2172T>A (n.2172T>A) c.1792T>A (p.Ser598Thr) c.1840T>A (p.Ser614Thr) c.1936T>A (p.Ser646Thr) c.1882T>A (p.Ser628Thr) c.1843T>A (p.Ser615Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739364T>C | CA402176962 | ASXL3 | c.1963T>C (p.Ser655Pro) c.1960T>C (p.Ser654Pro) c.*1084T>C (n.*1084T>C) c.*1619T>C (n.*1619T>C) c.2172T>C (n.2172T>C) c.1792T>C (p.Ser598Pro) c.1840T>C (p.Ser614Pro) c.1936T>C (p.Ser646Pro) c.1882T>C (p.Ser628Pro) c.1843T>C (p.Ser615Pro) | |
18 | g.33739364T>G | CA402176963 | ASXL3 | c.1963T>G (p.Ser655Ala) c.1960T>G (p.Ser654Ala) c.*1084T>G (n.*1084T>G) c.*1619T>G (n.*1619T>G) c.2172T>G (n.2172T>G) c.1792T>G (p.Ser598Ala) c.1840T>G (p.Ser614Ala) c.1936T>G (p.Ser646Ala) c.1882T>G (p.Ser628Ala) c.1843T>G (p.Ser615Ala) | |
18 | g.33739364T= | CA2294855945 | ASXL3 | c.1963T= (p.Ser655=) c.1960T= (p.Ser654=) c.*1084T= (n.*1084T=) c.*1619T= (n.*1619T=) c.2172T= (n.2172T=) c.1792T= (p.Ser598=) c.1840T= (p.Ser614=) c.1936T= (p.Ser646=) c.1882T= (p.Ser628=) c.1843T= (p.Ser615=) | |
18 | g.33739365C>A | CA402176966 | ASXL3 | c.1964C>A (p.Ser655Tyr) c.1961C>A (p.Ser654Tyr) c.*1085C>A (n.*1085C>A) c.*1620C>A (n.*1620C>A) c.2173C>A (n.2173C>A) c.1793C>A (p.Ser598Tyr) c.1841C>A (p.Ser614Tyr) c.1937C>A (p.Ser646Tyr) c.1883C>A (p.Ser628Tyr) c.1844C>A (p.Ser615Tyr) | |
18 | g.33739365C>G | CA402176965 | ASXL3 | c.1964C>G (p.Ser655Cys) c.1961C>G (p.Ser654Cys) c.*1085C>G (n.*1085C>G) c.*1620C>G (n.*1620C>G) c.2173C>G (n.2173C>G) c.1793C>G (p.Ser598Cys) c.1841C>G (p.Ser614Cys) c.1937C>G (p.Ser646Cys) c.1883C>G (p.Ser628Cys) c.1844C>G (p.Ser615Cys) | |
18 | g.33739365C>T | CA402176964 | ASXL3 | c.1964C>T (p.Ser655Phe) c.1961C>T (p.Ser654Phe) c.*1085C>T (n.*1085C>T) c.*1620C>T (n.*1620C>T) c.2173C>T (n.2173C>T) c.1793C>T (p.Ser598Phe) c.1841C>T (p.Ser614Phe) c.1937C>T (p.Ser646Phe) c.1883C>T (p.Ser628Phe) c.1844C>T (p.Ser615Phe) | |
18 | g.33739365dup | CA16044280 | ASXL3 | c.1964dup (p.Ser656Ter) c.1961dup (p.Ser655Ter) c.*1085dup (n.*1085dup) c.*1620dup (n.*1620dup) c.2173dup (n.2173dup) c.1793dup (p.Ser599Ter) c.1841dup (p.Ser615Ter) c.1937dup (p.Ser647Ter) c.1883dup (p.Ser629Ter) c.1844dup (p.Ser616Ter) | ClinVar dbSNP |
18 | g.33739365_33739366insA | CA2573332498 | ASXL3 | c.1964_1965insA (p.Ser656Ter) c.1961_1962insA (p.Ser655Ter) c.*1085_*1086insA (n.*1085_*1086insA) c.*1620_*1621insA (n.*1620_*1621insA) c.2173_2174insA (n.2173_2174insA) c.1793_1794insA (p.Ser599Ter) c.1841_1842insA (p.Ser615Ter) c.1937_1938insA (p.Ser647Ter) c.1883_1884insA (p.Ser629Ter) c.1844_1845insA (p.Ser616Ter) | ClinVar |
18 | g.33739366T>A | CA503768671 | ASXL3 | c.1965T>A (p.Ser655=) c.1962T>A (p.Ser654=) c.*1086T>A (n.*1086T>A) c.*1621T>A (n.*1621T>A) c.2174T>A (n.2174T>A) c.1794T>A (p.Ser598=) c.1842T>A (p.Ser614=) c.1938T>A (p.Ser646=) c.1884T>A (p.Ser628=) c.1845T>A (p.Ser615=) | |
18 | g.33739366T>C | CA503768672 | ASXL3 | c.1965T>C (p.Ser655=) c.1962T>C (p.Ser654=) c.*1086T>C (n.*1086T>C) c.*1621T>C (n.*1621T>C) c.2174T>C (n.2174T>C) c.1794T>C (p.Ser598=) c.1842T>C (p.Ser614=) c.1938T>C (p.Ser646=) c.1884T>C (p.Ser628=) c.1845T>C (p.Ser615=) | dbSNP gnomAD v4 |
18 | g.33739366T>G | CA503768673 | ASXL3 | c.1965T>G (p.Ser655=) c.1962T>G (p.Ser654=) c.*1086T>G (n.*1086T>G) c.*1621T>G (n.*1621T>G) c.2174T>G (n.2174T>G) c.1794T>G (p.Ser598=) c.1842T>G (p.Ser614=) c.1938T>G (p.Ser646=) c.1884T>G (p.Ser628=) c.1845T>G (p.Ser615=) | |
18 | g.33739366T= | CA2294855946 | ASXL3 | c.1965T= (p.Ser655=) c.1962T= (p.Ser654=) c.*1086T= (n.*1086T=) c.*1621T= (n.*1621T=) c.2174T= (n.2174T=) c.1794T= (p.Ser598=) c.1842T= (p.Ser614=) c.1938T= (p.Ser646=) c.1884T= (p.Ser628=) c.1845T= (p.Ser615=) | |
18 | g.33739367A= | CA2294855947 | ASXL3 | c.1966A= (p.Ser656=) c.1963A= (p.Ser655=) c.*1087A= (n.*1087A=) c.*1622A= (n.*1622A=) c.2175A= (n.2175A=) c.1795A= (p.Ser599=) c.1843A= (p.Ser615=) c.1939A= (p.Ser647=) c.1885A= (p.Ser629=) c.1846A= (p.Ser616=) | |
18 | g.33739367A>C | CA402176967 | ASXL3 | c.1966A>C (p.Ser656Arg) c.1963A>C (p.Ser655Arg) c.*1087A>C (n.*1087A>C) c.*1622A>C (n.*1622A>C) c.2175A>C (n.2175A>C) c.1795A>C (p.Ser599Arg) c.1843A>C (p.Ser615Arg) c.1939A>C (p.Ser647Arg) c.1885A>C (p.Ser629Arg) c.1846A>C (p.Ser616Arg) | |
18 | g.33739367A>G | CA8933844 | ASXL3 | c.1966A>G (p.Ser656Gly) c.1963A>G (p.Ser655Gly) c.*1087A>G (n.*1087A>G) c.*1622A>G (n.*1622A>G) c.2175A>G (n.2175A>G) c.1795A>G (p.Ser599Gly) c.1843A>G (p.Ser615Gly) c.1939A>G (p.Ser647Gly) c.1885A>G (p.Ser629Gly) c.1846A>G (p.Ser616Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739367A>T | CA402176968 | ASXL3 | c.1966A>T (p.Ser656Cys) c.1963A>T (p.Ser655Cys) c.*1087A>T (n.*1087A>T) c.*1622A>T (n.*1622A>T) c.2175A>T (n.2175A>T) c.1795A>T (p.Ser599Cys) c.1843A>T (p.Ser615Cys) c.1939A>T (p.Ser647Cys) c.1885A>T (p.Ser629Cys) c.1846A>T (p.Ser616Cys) | |
18 | g.33739368G>A | CA402176969 | ASXL3 | c.1967G>A (p.Ser656Asn) c.1964G>A (p.Ser655Asn) c.*1088G>A (n.*1088G>A) c.*1623G>A (n.*1623G>A) c.2176G>A (n.2176G>A) c.1796G>A (p.Ser599Asn) c.1844G>A (p.Ser615Asn) c.1940G>A (p.Ser647Asn) c.1886G>A (p.Ser629Asn) c.1847G>A (p.Ser616Asn) | |
18 | g.33739368G>C | CA402176970 | ASXL3 | c.1967G>C (p.Ser656Thr) c.1964G>C (p.Ser655Thr) c.*1088G>C (n.*1088G>C) c.*1623G>C (n.*1623G>C) c.2176G>C (n.2176G>C) c.1796G>C (p.Ser599Thr) c.1844G>C (p.Ser615Thr) c.1940G>C (p.Ser647Thr) c.1886G>C (p.Ser629Thr) c.1847G>C (p.Ser616Thr) | |
18 | g.33739368G>T | CA402176971 | ASXL3 | c.1967G>T (p.Ser656Ile) c.1964G>T (p.Ser655Ile) c.*1088G>T (n.*1088G>T) c.*1623G>T (n.*1623G>T) c.2176G>T (n.2176G>T) c.1796G>T (p.Ser599Ile) c.1844G>T (p.Ser615Ile) c.1940G>T (p.Ser647Ile) c.1886G>T (p.Ser629Ile) c.1847G>T (p.Ser616Ile) | |
18 | g.33739369C>A | CA402176972 | ASXL3 | c.1968C>A (p.Ser656Arg) c.1965C>A (p.Ser655Arg) c.*1089C>A (n.*1089C>A) c.*1624C>A (n.*1624C>A) c.2177C>A (n.2177C>A) c.1797C>A (p.Ser599Arg) c.1845C>A (p.Ser615Arg) c.1941C>A (p.Ser647Arg) c.1887C>A (p.Ser629Arg) c.1848C>A (p.Ser616Arg) | |
18 | g.33739369C= | CA2294855948 | ASXL3 | c.1968C= (p.Ser656=) c.1965C= (p.Ser655=) c.*1089C= (n.*1089C=) c.*1624C= (n.*1624C=) c.2177C= (n.2177C=) c.1797C= (p.Ser599=) c.1845C= (p.Ser615=) c.1941C= (p.Ser647=) c.1887C= (p.Ser629=) c.1848C= (p.Ser616=) | |
18 | g.33739369C>G | CA402176973 | ASXL3 | c.1968C>G (p.Ser656Arg) c.1965C>G (p.Ser655Arg) c.*1089C>G (n.*1089C>G) c.*1624C>G (n.*1624C>G) c.2177C>G (n.2177C>G) c.1797C>G (p.Ser599Arg) c.1845C>G (p.Ser615Arg) c.1941C>G (p.Ser647Arg) c.1887C>G (p.Ser629Arg) c.1848C>G (p.Ser616Arg) | |
18 | g.33739369C>T | CA8933845 | ASXL3 | c.1968C>T (p.Ser656=) c.1965C>T (p.Ser655=) c.*1089C>T (n.*1089C>T) c.*1624C>T (n.*1624C>T) c.2177C>T (n.2177C>T) c.1797C>T (p.Ser599=) c.1845C>T (p.Ser615=) c.1941C>T (p.Ser647=) c.1887C>T (p.Ser629=) c.1848C>T (p.Ser616=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739370A>C | CA402176974 | ASXL3 | c.1969A>C (p.Thr657Pro) c.1966A>C (p.Thr656Pro) c.*1090A>C (n.*1090A>C) c.*1625A>C (n.*1625A>C) c.2178A>C (n.2178A>C) c.1798A>C (p.Thr600Pro) c.1846A>C (p.Thr616Pro) c.1942A>C (p.Thr648Pro) c.1888A>C (p.Thr630Pro) c.1849A>C (p.Thr617Pro) | |
18 | g.33739370A>G | CA402176975 | ASXL3 | c.1969A>G (p.Thr657Ala) c.1966A>G (p.Thr656Ala) c.*1090A>G (n.*1090A>G) c.*1625A>G (n.*1625A>G) c.2178A>G (n.2178A>G) c.1798A>G (p.Thr600Ala) c.1846A>G (p.Thr616Ala) c.1942A>G (p.Thr648Ala) c.1888A>G (p.Thr630Ala) c.1849A>G (p.Thr617Ala) | |
18 | g.33739370A>T | CA402176976 | ASXL3 | c.1969A>T (p.Thr657Ser) c.1966A>T (p.Thr656Ser) c.*1090A>T (n.*1090A>T) c.*1625A>T (n.*1625A>T) c.2178A>T (n.2178A>T) c.1798A>T (p.Thr600Ser) c.1846A>T (p.Thr616Ser) c.1942A>T (p.Thr648Ser) c.1888A>T (p.Thr630Ser) c.1849A>T (p.Thr617Ser) | |
18 | g.33739371C>A | CA402176979 | ASXL3 | c.1970C>A (p.Thr657Asn) c.1967C>A (p.Thr656Asn) c.*1091C>A (n.*1091C>A) c.*1626C>A (n.*1626C>A) c.2179C>A (n.2179C>A) c.1799C>A (p.Thr600Asn) c.1847C>A (p.Thr616Asn) c.1943C>A (p.Thr648Asn) c.1889C>A (p.Thr630Asn) c.1850C>A (p.Thr617Asn) | |
18 | g.33739371C>G | CA402176977 | ASXL3 | c.1970C>G (p.Thr657Ser) c.1967C>G (p.Thr656Ser) c.*1091C>G (n.*1091C>G) c.*1626C>G (n.*1626C>G) c.2179C>G (n.2179C>G) c.1799C>G (p.Thr600Ser) c.1847C>G (p.Thr616Ser) c.1943C>G (p.Thr648Ser) c.1889C>G (p.Thr630Ser) c.1850C>G (p.Thr617Ser) | |
18 | g.33739371C>T | CA402176978 | ASXL3 | c.1970C>T (p.Thr657Ile) c.1967C>T (p.Thr656Ile) c.*1091C>T (n.*1091C>T) c.*1626C>T (n.*1626C>T) c.2179C>T (n.2179C>T) c.1799C>T (p.Thr600Ile) c.1847C>T (p.Thr616Ile) c.1943C>T (p.Thr648Ile) c.1889C>T (p.Thr630Ile) c.1850C>T (p.Thr617Ile) | |
18 | g.33739371_33739372insAAGTTCACAAGCCAAGCCCTG | CA2812055566 | ASXL3 | c.1970_1971insAAGTTCACAAGCCAAGCCCTG (p.Thr657_Glu658insSerSerGlnAlaLysProCys) c.1967_1968insAAGTTCACAAGCCAAGCCCTG (p.Thr656_Glu657insSerSerGlnAlaLysProCys) c.*1091_*1092insAAGTTCACAAGCCAAGCCCTG (n.*1091_*1092insAAGTTCACAAGCCAAGCCCTG) c.*1626_*1627insAAGTTCACAAGCCAAGCCCTG (n.*1626_*1627insAAGTTCACAAGCCAAGCCCTG) c.2179_2180insAAGTTCACAAGCCAAGCCCTG (n.2179_2180insAAGTTCACAAGCCAAGCCCTG) c.1799_1800insAAGTTCACAAGCCAAGCCCTG (p.Thr600_Glu601insSerSerGlnAlaLysProCys) c.1847_1848insAAGTTCACAAGCCAAGCCCTG (p.Thr616_Glu617insSerSerGlnAlaLysProCys) c.1943_1944insAAGTTCACAAGCCAAGCCCTG (p.Thr648_Glu649insSerSerGlnAlaLysProCys) c.1889_1890insAAGTTCACAAGCCAAGCCCTG (p.Thr630_Glu631insSerSerGlnAlaLysProCys) c.1850_1851insAAGTTCACAAGCCAAGCCCTG (p.Thr617_Glu618insSerSerGlnAlaLysProCys) | |
18 | g.33739372T>A | CA503768694 | ASXL3 | c.1971T>A (p.Thr657=) c.1968T>A (p.Thr656=) c.*1092T>A (n.*1092T>A) c.*1627T>A (n.*1627T>A) c.2180T>A (n.2180T>A) c.1800T>A (p.Thr600=) c.1848T>A (p.Thr616=) c.1944T>A (p.Thr648=) c.1890T>A (p.Thr630=) c.1851T>A (p.Thr617=) | |
18 | g.33739372T>C | CA503768692 | ASXL3 | c.1971T>C (p.Thr657=) c.1968T>C (p.Thr656=) c.*1092T>C (n.*1092T>C) c.*1627T>C (n.*1627T>C) c.2180T>C (n.2180T>C) c.1800T>C (p.Thr600=) c.1848T>C (p.Thr616=) c.1944T>C (p.Thr648=) c.1890T>C (p.Thr630=) c.1851T>C (p.Thr617=) | |
18 | g.33739372T>G | CA503768690 | ASXL3 | c.1971T>G (p.Thr657=) c.1968T>G (p.Thr656=) c.*1092T>G (n.*1092T>G) c.*1627T>G (n.*1627T>G) c.2180T>G (n.2180T>G) c.1800T>G (p.Thr600=) c.1848T>G (p.Thr616=) c.1944T>G (p.Thr648=) c.1890T>G (p.Thr630=) c.1851T>G (p.Thr617=) | |
18 | g.33739373G>A | CA402176980 | ASXL3 | c.1972G>A (p.Glu658Lys) c.1969G>A (p.Glu657Lys) c.*1093G>A (n.*1093G>A) c.*1628G>A (n.*1628G>A) c.2181G>A (n.2181G>A) c.1801G>A (p.Glu601Lys) c.1849G>A (p.Glu617Lys) c.1945G>A (p.Glu649Lys) c.1891G>A (p.Glu631Lys) c.1852G>A (p.Glu618Lys) | COSMIC COSMIC |
18 | g.33739373G>C | CA402176981 | ASXL3 | c.1972G>C (p.Glu658Gln) c.1969G>C (p.Glu657Gln) c.*1093G>C (n.*1093G>C) c.*1628G>C (n.*1628G>C) c.2181G>C (n.2181G>C) c.1801G>C (p.Glu601Gln) c.1849G>C (p.Glu617Gln) c.1945G>C (p.Glu649Gln) c.1891G>C (p.Glu631Gln) c.1852G>C (p.Glu618Gln) | |
18 | g.33739373G>T | CA402176982 | ASXL3 | c.1972G>T (p.Glu658Ter) c.1969G>T (p.Glu657Ter) c.*1093G>T (n.*1093G>T) c.*1628G>T (n.*1628G>T) c.2181G>T (n.2181G>T) c.1801G>T (p.Glu601Ter) c.1849G>T (p.Glu617Ter) c.1945G>T (p.Glu649Ter) c.1891G>T (p.Glu631Ter) c.1852G>T (p.Glu618Ter) | |
18 | g.33739374A>C | CA402176983 | ASXL3 | c.1973A>C (p.Glu658Ala) c.1970A>C (p.Glu657Ala) c.*1094A>C (n.*1094A>C) c.*1629A>C (n.*1629A>C) c.2182A>C (n.2182A>C) c.1802A>C (p.Glu601Ala) c.1850A>C (p.Glu617Ala) c.1946A>C (p.Glu649Ala) c.1892A>C (p.Glu631Ala) c.1853A>C (p.Glu618Ala) | |
18 | g.33739374A>G | CA402176984 | ASXL3 | c.1973A>G (p.Glu658Gly) c.1970A>G (p.Glu657Gly) c.*1094A>G (n.*1094A>G) c.*1629A>G (n.*1629A>G) c.2182A>G (n.2182A>G) c.1802A>G (p.Glu601Gly) c.1850A>G (p.Glu617Gly) c.1946A>G (p.Glu649Gly) c.1892A>G (p.Glu631Gly) c.1853A>G (p.Glu618Gly) | gnomAD v4 |
18 | g.33739374A>T | CA402176985 | ASXL3 | c.1973A>T (p.Glu658Val) c.1970A>T (p.Glu657Val) c.*1094A>T (n.*1094A>T) c.*1629A>T (n.*1629A>T) c.2182A>T (n.2182A>T) c.1802A>T (p.Glu601Val) c.1850A>T (p.Glu617Val) c.1946A>T (p.Glu649Val) c.1892A>T (p.Glu631Val) c.1853A>T (p.Glu618Val) | |
18 | g.33739377del | CA645601889 | ASXL3 | c.1976del (p.Asn659IlefsTer19) c.1973del (p.Asn658IlefsTer19) c.*1097del (n.*1097del) c.*1632del (n.*1632del) c.2185del (n.2185del) c.1805del (p.Asn602IlefsTer19) c.1853del (p.Asn618IlefsTer19) c.1949del (p.Asn650IlefsTer19) c.1895del (p.Asn632IlefsTer19) c.1856del (p.Asn619IlefsTer19) | COSMIC COSMIC |
18 | g.33739375A>C | CA402176986 | ASXL3 | c.1974A>C (p.Glu658Asp) c.1971A>C (p.Glu657Asp) c.*1095A>C (n.*1095A>C) c.*1630A>C (n.*1630A>C) c.2183A>C (n.2183A>C) c.1803A>C (p.Glu601Asp) c.1851A>C (p.Glu617Asp) c.1947A>C (p.Glu649Asp) c.1893A>C (p.Glu631Asp) c.1854A>C (p.Glu618Asp) | |
18 | g.33739375A>G | CA503768701 | ASXL3 | c.1974A>G (p.Glu658=) c.1971A>G (p.Glu657=) c.*1095A>G (n.*1095A>G) c.*1630A>G (n.*1630A>G) c.2183A>G (n.2183A>G) c.1803A>G (p.Glu601=) c.1851A>G (p.Glu617=) c.1947A>G (p.Glu649=) c.1893A>G (p.Glu631=) c.1854A>G (p.Glu618=) | |
18 | g.33739375A>T | CA402176987 | ASXL3 | c.1974A>T (p.Glu658Asp) c.1971A>T (p.Glu657Asp) c.*1095A>T (n.*1095A>T) c.*1630A>T (n.*1630A>T) c.2183A>T (n.2183A>T) c.1803A>T (p.Glu601Asp) c.1851A>T (p.Glu617Asp) c.1947A>T (p.Glu649Asp) c.1893A>T (p.Glu631Asp) c.1854A>T (p.Glu618Asp) | |
18 | g.33739376A>C | CA402176988 | ASXL3 | c.1975A>C (p.Asn659His) c.1972A>C (p.Asn658His) c.*1096A>C (n.*1096A>C) c.*1631A>C (n.*1631A>C) c.2184A>C (n.2184A>C) c.1804A>C (p.Asn602His) c.1852A>C (p.Asn618His) c.1948A>C (p.Asn650His) c.1894A>C (p.Asn632His) c.1855A>C (p.Asn619His) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739376A>G | CA402176989 | ASXL3 | c.1975A>G (p.Asn659Asp) c.1972A>G (p.Asn658Asp) c.*1096A>G (n.*1096A>G) c.*1631A>G (n.*1631A>G) c.2184A>G (n.2184A>G) c.1804A>G (p.Asn602Asp) c.1852A>G (p.Asn618Asp) c.1948A>G (p.Asn650Asp) c.1894A>G (p.Asn632Asp) c.1855A>G (p.Asn619Asp) | |
18 | g.33739376A>T | CA402176990 | ASXL3 | c.1975A>T (p.Asn659Tyr) c.1972A>T (p.Asn658Tyr) c.*1096A>T (n.*1096A>T) c.*1631A>T (n.*1631A>T) c.2184A>T (n.2184A>T) c.1804A>T (p.Asn602Tyr) c.1852A>T (p.Asn618Tyr) c.1948A>T (p.Asn650Tyr) c.1894A>T (p.Asn632Tyr) c.1855A>T (p.Asn619Tyr) | |
18 | g.33739377A= | CA2294855949 | ASXL3 | c.1976A= (p.Asn659=) c.1973A= (p.Asn658=) c.*1097A= (n.*1097A=) c.*1632A= (n.*1632A=) c.2185A= (n.2185A=) c.1805A= (p.Asn602=) c.1853A= (p.Asn618=) c.1949A= (p.Asn650=) c.1895A= (p.Asn632=) c.1856A= (p.Asn619=) | |
18 | g.33739377A>C | CA402176992 | ASXL3 | c.1976A>C (p.Asn659Thr) c.1973A>C (p.Asn658Thr) c.*1097A>C (n.*1097A>C) c.*1632A>C (n.*1632A>C) c.2185A>C (n.2185A>C) c.1805A>C (p.Asn602Thr) c.1853A>C (p.Asn618Thr) c.1949A>C (p.Asn650Thr) c.1895A>C (p.Asn632Thr) c.1856A>C (p.Asn619Thr) | |
18 | g.33739377A>G | CA402176991 | ASXL3 | c.1976A>G (p.Asn659Ser) c.1973A>G (p.Asn658Ser) c.*1097A>G (n.*1097A>G) c.*1632A>G (n.*1632A>G) c.2185A>G (n.2185A>G) c.1805A>G (p.Asn602Ser) c.1853A>G (p.Asn618Ser) c.1949A>G (p.Asn650Ser) c.1895A>G (p.Asn632Ser) c.1856A>G (p.Asn619Ser) | |
18 | g.33739377A>T | CA8933846 | ASXL3 | c.1976A>T (p.Asn659Ile) c.1973A>T (p.Asn658Ile) c.*1097A>T (n.*1097A>T) c.*1632A>T (n.*1632A>T) c.2185A>T (n.2185A>T) c.1805A>T (p.Asn602Ile) c.1853A>T (p.Asn618Ile) c.1949A>T (p.Asn650Ile) c.1895A>T (p.Asn632Ile) c.1856A>T (p.Asn619Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739378T>A | CA402176993 | ASXL3 | c.1977T>A (p.Asn659Lys) c.1974T>A (p.Asn658Lys) c.*1098T>A (n.*1098T>A) c.*1633T>A (n.*1633T>A) c.2186T>A (n.2186T>A) c.1806T>A (p.Asn602Lys) c.1854T>A (p.Asn618Lys) c.1950T>A (p.Asn650Lys) c.1896T>A (p.Asn632Lys) c.1857T>A (p.Asn619Lys) | |
18 | g.33739378T>C | CA503768709 | ASXL3 | c.1977T>C (p.Asn659=) c.1974T>C (p.Asn658=) c.*1098T>C (n.*1098T>C) c.*1633T>C (n.*1633T>C) c.2186T>C (n.2186T>C) c.1806T>C (p.Asn602=) c.1854T>C (p.Asn618=) c.1950T>C (p.Asn650=) c.1896T>C (p.Asn632=) c.1857T>C (p.Asn619=) | |
18 | g.33739378T>G | CA402176994 | ASXL3 | c.1977T>G (p.Asn659Lys) c.1974T>G (p.Asn658Lys) c.*1098T>G (n.*1098T>G) c.*1633T>G (n.*1633T>G) c.2186T>G (n.2186T>G) c.1806T>G (p.Asn602Lys) c.1854T>G (p.Asn618Lys) c.1950T>G (p.Asn650Lys) c.1896T>G (p.Asn632Lys) c.1857T>G (p.Asn619Lys) | |
18 | g.33739378_33739382delinsTACAG | CA2294855950 | ASXL3 | c.1977_1981delinsTACAG (p.Asn659=) c.1974_1978delinsTACAG (p.Asn658=) c.*1098_*1102delinsTACAG (n.*1098_*1102delinsTACAG) c.*1633_*1637delinsTACAG (n.*1633_*1637delinsTACAG) c.2186_2190delinsTACAG (n.2186_2190delinsTACAG) c.1806_1810delinsTACAG (p.Asn602=) c.1854_1858delinsTACAG (p.Asn618=) c.1950_1954delinsTACAG (p.Asn650=) c.1896_1900delinsTACAG (p.Asn632=) c.1857_1861delinsTACAG (p.Asn619=) | |
18 | g.33739379A= | CA2294855951 | ASXL3 | c.1978A= (p.Thr660=) c.1975A= (p.Thr659=) c.*1099A= (n.*1099A=) c.*1634A= (n.*1634A=) c.2187A= (n.2187A=) c.1807A= (p.Thr603=) c.1855A= (p.Thr619=) c.1951A= (p.Thr651=) c.1897A= (p.Thr633=) c.1858A= (p.Thr620=) | |
18 | g.33739379A>C | CA402176995 | ASXL3 | c.1978A>C (p.Thr660Pro) c.1975A>C (p.Thr659Pro) c.*1099A>C (n.*1099A>C) c.*1634A>C (n.*1634A>C) c.2187A>C (n.2187A>C) c.1807A>C (p.Thr603Pro) c.1855A>C (p.Thr619Pro) c.1951A>C (p.Thr651Pro) c.1897A>C (p.Thr633Pro) c.1858A>C (p.Thr620Pro) | |
18 | g.33739379A>G | CA402176996 | ASXL3 | c.1978A>G (p.Thr660Ala) c.1975A>G (p.Thr659Ala) c.*1099A>G (n.*1099A>G) c.*1634A>G (n.*1634A>G) c.2187A>G (n.2187A>G) c.1807A>G (p.Thr603Ala) c.1855A>G (p.Thr619Ala) c.1951A>G (p.Thr651Ala) c.1897A>G (p.Thr633Ala) c.1858A>G (p.Thr620Ala) | dbSNP |
18 | g.33739379A>T | CA402176997 | ASXL3 | c.1978A>T (p.Thr660Ser) c.1975A>T (p.Thr659Ser) c.*1099A>T (n.*1099A>T) c.*1634A>T (n.*1634A>T) c.2187A>T (n.2187A>T) c.1807A>T (p.Thr603Ser) c.1855A>T (p.Thr619Ser) c.1951A>T (p.Thr651Ser) c.1897A>T (p.Thr633Ser) c.1858A>T (p.Thr620Ser) | |
18 | g.33739382_33739385del | CA658653850 | ASXL3 | c.1981_1984del (p.Asp661AsnfsTer16) c.1978_1981del (p.Asp660AsnfsTer16) c.*1102_*1105del (n.*1102_*1105del) c.*1637_*1640del (n.*1637_*1640del) c.2190_2193del (n.2190_2193del) c.1810_1813del (p.Asp604AsnfsTer16) c.1858_1861del (p.Asp620AsnfsTer16) c.1954_1957del (p.Asp652AsnfsTer16) c.1900_1903del (p.Asp634AsnfsTer16) c.1861_1864del (p.Asp621AsnfsTer16) | ClinVar dbSNP |
18 | g.33739380C>A | CA402176998 | ASXL3 | c.1979C>A (p.Thr660Lys) c.1976C>A (p.Thr659Lys) c.*1100C>A (n.*1100C>A) c.*1635C>A (n.*1635C>A) c.2188C>A (n.2188C>A) c.1808C>A (p.Thr603Lys) c.1856C>A (p.Thr619Lys) c.1952C>A (p.Thr651Lys) c.1898C>A (p.Thr633Lys) c.1859C>A (p.Thr620Lys) | |
18 | g.33739380C>G | CA402176999 | ASXL3 | c.1979C>G (p.Thr660Arg) c.1976C>G (p.Thr659Arg) c.*1100C>G (n.*1100C>G) c.*1635C>G (n.*1635C>G) c.2188C>G (n.2188C>G) c.1808C>G (p.Thr603Arg) c.1856C>G (p.Thr619Arg) c.1952C>G (p.Thr651Arg) c.1898C>G (p.Thr633Arg) c.1859C>G (p.Thr620Arg) | |
18 | g.33739380C>T | CA402177000 | ASXL3 | c.1979C>T (p.Thr660Ile) c.1976C>T (p.Thr659Ile) c.*1100C>T (n.*1100C>T) c.*1635C>T (n.*1635C>T) c.2188C>T (n.2188C>T) c.1808C>T (p.Thr603Ile) c.1856C>T (p.Thr619Ile) c.1952C>T (p.Thr651Ile) c.1898C>T (p.Thr633Ile) c.1859C>T (p.Thr620Ile) | gnomAD v4 |
18 | g.33739381del | CA2580617439 | ASXL3 | c.1980del (p.Asp661ThrfsTer17) c.1977del (p.Asp660ThrfsTer17) c.*1101del (n.*1101del) c.*1636del (n.*1636del) c.2189del (n.2189del) c.1809del (p.Asp604ThrfsTer17) c.1857del (p.Asp620ThrfsTer17) c.1953del (p.Asp652ThrfsTer17) c.1899del (p.Asp634ThrfsTer17) c.1860del (p.Asp621ThrfsTer17) | ClinVar |
18 | g.33739381A>C | CA503768714 | ASXL3 | c.1980A>C (p.Thr660=) c.1977A>C (p.Thr659=) c.*1101A>C (n.*1101A>C) c.*1636A>C (n.*1636A>C) c.2189A>C (n.2189A>C) c.1809A>C (p.Thr603=) c.1857A>C (p.Thr619=) c.1953A>C (p.Thr651=) c.1899A>C (p.Thr633=) c.1860A>C (p.Thr620=) | |
18 | g.33739381A>G | CA503768715 | ASXL3 | c.1980A>G (p.Thr660=) c.1977A>G (p.Thr659=) c.*1101A>G (n.*1101A>G) c.*1636A>G (n.*1636A>G) c.2189A>G (n.2189A>G) c.1809A>G (p.Thr603=) c.1857A>G (p.Thr619=) c.1953A>G (p.Thr651=) c.1899A>G (p.Thr633=) c.1860A>G (p.Thr620=) | |
18 | g.33739381A>T | CA503768716 | ASXL3 | c.1980A>T (p.Thr660=) c.1977A>T (p.Thr659=) c.*1101A>T (n.*1101A>T) c.*1636A>T (n.*1636A>T) c.2189A>T (n.2189A>T) c.1809A>T (p.Thr603=) c.1857A>T (p.Thr619=) c.1953A>T (p.Thr651=) c.1899A>T (p.Thr633=) c.1860A>T (p.Thr620=) | |
18 | g.33739382G>A | CA402177003 | ASXL3 | c.1981G>A (p.Asp661Asn) c.1978G>A (p.Asp660Asn) c.*1102G>A (n.*1102G>A) c.*1637G>A (n.*1637G>A) c.2190G>A (n.2190G>A) c.1810G>A (p.Asp604Asn) c.1858G>A (p.Asp620Asn) c.1954G>A (p.Asp652Asn) c.1900G>A (p.Asp634Asn) c.1861G>A (p.Asp621Asn) | gnomAD v4 |
18 | g.33739382G>C | CA402177001 | ASXL3 | c.1981G>C (p.Asp661His) c.1978G>C (p.Asp660His) c.*1102G>C (n.*1102G>C) c.*1637G>C (n.*1637G>C) c.2190G>C (n.2190G>C) c.1810G>C (p.Asp604His) c.1858G>C (p.Asp620His) c.1954G>C (p.Asp652His) c.1900G>C (p.Asp634His) c.1861G>C (p.Asp621His) | |
18 | g.33739382G>T | CA402177002 | ASXL3 | c.1981G>T (p.Asp661Tyr) c.1978G>T (p.Asp660Tyr) c.*1102G>T (n.*1102G>T) c.*1637G>T (n.*1637G>T) c.2190G>T (n.2190G>T) c.1810G>T (p.Asp604Tyr) c.1858G>T (p.Asp620Tyr) c.1954G>T (p.Asp652Tyr) c.1900G>T (p.Asp634Tyr) c.1861G>T (p.Asp621Tyr) | |
18 | g.33739383A>C | CA402177004 | ASXL3 | c.1982A>C (p.Asp661Ala) c.1979A>C (p.Asp660Ala) c.*1103A>C (n.*1103A>C) c.*1638A>C (n.*1638A>C) c.2191A>C (n.2191A>C) c.1811A>C (p.Asp604Ala) c.1859A>C (p.Asp620Ala) c.1955A>C (p.Asp652Ala) c.1901A>C (p.Asp634Ala) c.1862A>C (p.Asp621Ala) | |
18 | g.33739383A>G | CA402177005 | ASXL3 | c.1982A>G (p.Asp661Gly) c.1979A>G (p.Asp660Gly) c.*1103A>G (n.*1103A>G) c.*1638A>G (n.*1638A>G) c.2191A>G (n.2191A>G) c.1811A>G (p.Asp604Gly) c.1859A>G (p.Asp620Gly) c.1955A>G (p.Asp652Gly) c.1901A>G (p.Asp634Gly) c.1862A>G (p.Asp621Gly) | |
18 | g.33739383A>T | CA402177006 | ASXL3 | c.1982A>T (p.Asp661Val) c.1979A>T (p.Asp660Val) c.*1103A>T (n.*1103A>T) c.*1638A>T (n.*1638A>T) c.2191A>T (n.2191A>T) c.1811A>T (p.Asp604Val) c.1859A>T (p.Asp620Val) c.1955A>T (p.Asp652Val) c.1901A>T (p.Asp634Val) c.1862A>T (p.Asp621Val) | |
18 | g.33739384C>A | CA402177007 | ASXL3 | c.1983C>A (p.Asp661Glu) c.1980C>A (p.Asp660Glu) c.*1104C>A (n.*1104C>A) c.*1639C>A (n.*1639C>A) c.2192C>A (n.2192C>A) c.1812C>A (p.Asp604Glu) c.1860C>A (p.Asp620Glu) c.1956C>A (p.Asp652Glu) c.1902C>A (p.Asp634Glu) c.1863C>A (p.Asp621Glu) | |
18 | g.33739384C= | CA2294855952 | ASXL3 | c.1983C= (p.Asp661=) c.1980C= (p.Asp660=) c.*1104C= (n.*1104C=) c.*1639C= (n.*1639C=) c.2192C= (n.2192C=) c.1812C= (p.Asp604=) c.1860C= (p.Asp620=) c.1956C= (p.Asp652=) c.1902C= (p.Asp634=) c.1863C= (p.Asp621=) | |
18 | g.33739384C>G | CA8933847 | ASXL3 | c.1983C>G (p.Asp661Glu) c.1980C>G (p.Asp660Glu) c.*1104C>G (n.*1104C>G) c.*1639C>G (n.*1639C>G) c.2192C>G (n.2192C>G) c.1812C>G (p.Asp604Glu) c.1860C>G (p.Asp620Glu) c.1956C>G (p.Asp652Glu) c.1902C>G (p.Asp634Glu) c.1863C>G (p.Asp621Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739384C>T | CA503768721 | ASXL3 | c.1983C>T (p.Asp661=) c.1980C>T (p.Asp660=) c.*1104C>T (n.*1104C>T) c.*1639C>T (n.*1639C>T) c.2192C>T (n.2192C>T) c.1812C>T (p.Asp604=) c.1860C>T (p.Asp620=) c.1956C>T (p.Asp652=) c.1902C>T (p.Asp634=) c.1863C>T (p.Asp621=) | |
18 | g.33739385A>C | CA402177008 | ASXL3 | c.1984A>C (p.Lys662Gln) c.1981A>C (p.Lys661Gln) c.*1105A>C (n.*1105A>C) c.*1640A>C (n.*1640A>C) c.2193A>C (n.2193A>C) c.1813A>C (p.Lys605Gln) c.1861A>C (p.Lys621Gln) c.1957A>C (p.Lys653Gln) c.1903A>C (p.Lys635Gln) c.1864A>C (p.Lys622Gln) | |
18 | g.33739385A>G | CA402177010 | ASXL3 | c.1984A>G (p.Lys662Glu) c.1981A>G (p.Lys661Glu) c.*1105A>G (n.*1105A>G) c.*1640A>G (n.*1640A>G) c.2193A>G (n.2193A>G) c.1813A>G (p.Lys605Glu) c.1861A>G (p.Lys621Glu) c.1957A>G (p.Lys653Glu) c.1903A>G (p.Lys635Glu) c.1864A>G (p.Lys622Glu) | gnomAD v4 |
18 | g.33739385A>T | CA402177009 | ASXL3 | c.1984A>T (p.Lys662Ter) c.1981A>T (p.Lys661Ter) c.*1105A>T (n.*1105A>T) c.*1640A>T (n.*1640A>T) c.2193A>T (n.2193A>T) c.1813A>T (p.Lys605Ter) c.1861A>T (p.Lys621Ter) c.1957A>T (p.Lys653Ter) c.1903A>T (p.Lys635Ter) c.1864A>T (p.Lys622Ter) | |
18 | g.33739386A= | CA2294855953 | ASXL3 | c.1985A= (p.Lys662=) c.1982A= (p.Lys661=) c.*1106A= (n.*1106A=) c.*1641A= (n.*1641A=) c.2194A= (n.2194A=) c.1814A= (p.Lys605=) c.1862A= (p.Lys621=) c.1958A= (p.Lys653=) c.1904A= (p.Lys635=) c.1865A= (p.Lys622=) | |
18 | g.33739386A>C | CA402177011 | ASXL3 | c.1985A>C (p.Lys662Thr) c.1982A>C (p.Lys661Thr) c.*1106A>C (n.*1106A>C) c.*1641A>C (n.*1641A>C) c.2194A>C (n.2194A>C) c.1814A>C (p.Lys605Thr) c.1862A>C (p.Lys621Thr) c.1958A>C (p.Lys653Thr) c.1904A>C (p.Lys635Thr) c.1865A>C (p.Lys622Thr) | |
18 | g.33739386A>G | CA402177012 | ASXL3 | c.1985A>G (p.Lys662Arg) c.1982A>G (p.Lys661Arg) c.*1106A>G (n.*1106A>G) c.*1641A>G (n.*1641A>G) c.2194A>G (n.2194A>G) c.1814A>G (p.Lys605Arg) c.1862A>G (p.Lys621Arg) c.1958A>G (p.Lys653Arg) c.1904A>G (p.Lys635Arg) c.1865A>G (p.Lys622Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739386A>T | CA402177013 | ASXL3 | c.1985A>T (p.Lys662Ile) c.1982A>T (p.Lys661Ile) c.*1106A>T (n.*1106A>T) c.*1641A>T (n.*1641A>T) c.2194A>T (n.2194A>T) c.1814A>T (p.Lys605Ile) c.1862A>T (p.Lys621Ile) c.1958A>T (p.Lys653Ile) c.1904A>T (p.Lys635Ile) c.1865A>T (p.Lys622Ile) | |
18 | g.33739387A>C | CA402177014 | ASXL3 | c.1986A>C (p.Lys662Asn) c.1983A>C (p.Lys661Asn) c.*1107A>C (n.*1107A>C) c.*1642A>C (n.*1642A>C) c.2195A>C (n.2195A>C) c.1815A>C (p.Lys605Asn) c.1863A>C (p.Lys621Asn) c.1959A>C (p.Lys653Asn) c.1905A>C (p.Lys635Asn) c.1866A>C (p.Lys622Asn) | |
18 | g.33739387A>G | CA503768724 | ASXL3 | c.1986A>G (p.Lys662=) c.1983A>G (p.Lys661=) c.*1107A>G (n.*1107A>G) c.*1642A>G (n.*1642A>G) c.2195A>G (n.2195A>G) c.1815A>G (p.Lys605=) c.1863A>G (p.Lys621=) c.1959A>G (p.Lys653=) c.1905A>G (p.Lys635=) c.1866A>G (p.Lys622=) | gnomAD v4 |
18 | g.33739387A>T | CA402177015 | ASXL3 | c.1986A>T (p.Lys662Asn) c.1983A>T (p.Lys661Asn) c.*1107A>T (n.*1107A>T) c.*1642A>T (n.*1642A>T) c.2195A>T (n.2195A>T) c.1815A>T (p.Lys605Asn) c.1863A>T (p.Lys621Asn) c.1959A>T (p.Lys653Asn) c.1905A>T (p.Lys635Asn) c.1866A>T (p.Lys622Asn) | |
18 | g.33739388T>A | CA402177016 | ASXL3 | c.1987T>A (p.Tyr663Asn) c.1984T>A (p.Tyr662Asn) c.*1108T>A (n.*1108T>A) c.*1643T>A (n.*1643T>A) c.2196T>A (n.2196T>A) c.1816T>A (p.Tyr606Asn) c.1864T>A (p.Tyr622Asn) c.1960T>A (p.Tyr654Asn) c.1906T>A (p.Tyr636Asn) c.1867T>A (p.Tyr623Asn) | |
18 | g.33739388T>C | CA402177017 | ASXL3 | c.1987T>C (p.Tyr663His) c.1984T>C (p.Tyr662His) c.*1108T>C (n.*1108T>C) c.*1643T>C (n.*1643T>C) c.2196T>C (n.2196T>C) c.1816T>C (p.Tyr606His) c.1864T>C (p.Tyr622His) c.1960T>C (p.Tyr654His) c.1906T>C (p.Tyr636His) c.1867T>C (p.Tyr623His) | |
18 | g.33739388T>G | CA402177018 | ASXL3 | c.1987T>G (p.Tyr663Asp) c.1984T>G (p.Tyr662Asp) c.*1108T>G (n.*1108T>G) c.*1643T>G (n.*1643T>G) c.2196T>G (n.2196T>G) c.1816T>G (p.Tyr606Asp) c.1864T>G (p.Tyr622Asp) c.1960T>G (p.Tyr654Asp) c.1906T>G (p.Tyr636Asp) c.1867T>G (p.Tyr623Asp) | |
18 | g.33739389A= | CA2294855954 | ASXL3 | c.1988A= (p.Tyr663=) c.1985A= (p.Tyr662=) c.*1109A= (n.*1109A=) c.*1644A= (n.*1644A=) c.2197A= (n.2197A=) c.1817A= (p.Tyr606=) c.1865A= (p.Tyr622=) c.1961A= (p.Tyr654=) c.1907A= (p.Tyr636=) c.1868A= (p.Tyr623=) | |
18 | g.33739389A>C | CA402177019 | ASXL3 | c.1988A>C (p.Tyr663Ser) c.1985A>C (p.Tyr662Ser) c.*1109A>C (n.*1109A>C) c.*1644A>C (n.*1644A>C) c.2197A>C (n.2197A>C) c.1817A>C (p.Tyr606Ser) c.1865A>C (p.Tyr622Ser) c.1961A>C (p.Tyr654Ser) c.1907A>C (p.Tyr636Ser) c.1868A>C (p.Tyr623Ser) | |
18 | g.33739389A>G | CA8933848 | ASXL3 | c.1988A>G (p.Tyr663Cys) c.1985A>G (p.Tyr662Cys) c.*1109A>G (n.*1109A>G) c.*1644A>G (n.*1644A>G) c.2197A>G (n.2197A>G) c.1817A>G (p.Tyr606Cys) c.1865A>G (p.Tyr622Cys) c.1961A>G (p.Tyr654Cys) c.1907A>G (p.Tyr636Cys) c.1868A>G (p.Tyr623Cys) | dbSNP ExAC gnomAD v4 |
18 | g.33739389A>T | CA402177020 | ASXL3 | c.1988A>T (p.Tyr663Phe) c.1985A>T (p.Tyr662Phe) c.*1109A>T (n.*1109A>T) c.*1644A>T (n.*1644A>T) c.2197A>T (n.2197A>T) c.1817A>T (p.Tyr606Phe) c.1865A>T (p.Tyr622Phe) c.1961A>T (p.Tyr654Phe) c.1907A>T (p.Tyr636Phe) c.1868A>T (p.Tyr623Phe) | |
18 | g.33739390C>A | CA16043634 | ASXL3 | c.1989C>A (p.Tyr663Ter) c.1986C>A (p.Tyr662Ter) c.*1110C>A (n.*1110C>A) c.*1645C>A (n.*1645C>A) c.2198C>A (n.2198C>A) c.1818C>A (p.Tyr606Ter) c.1866C>A (p.Tyr622Ter) c.1962C>A (p.Tyr654Ter) c.1908C>A (p.Tyr636Ter) c.1869C>A (p.Tyr623Ter) | ClinVar dbSNP |
18 | g.33739390C= | CA2294855955 | ASXL3 | c.1989C= (p.Tyr663=) c.1986C= (p.Tyr662=) c.*1110C= (n.*1110C=) c.*1645C= (n.*1645C=) c.2198C= (n.2198C=) c.1818C= (p.Tyr606=) c.1866C= (p.Tyr622=) c.1962C= (p.Tyr654=) c.1908C= (p.Tyr636=) c.1869C= (p.Tyr623=) | |
18 | g.33739390C>G | CA402177021 | ASXL3 | c.1989C>G (p.Tyr663Ter) c.1986C>G (p.Tyr662Ter) c.*1110C>G (n.*1110C>G) c.*1645C>G (n.*1645C>G) c.2198C>G (n.2198C>G) c.1818C>G (p.Tyr606Ter) c.1866C>G (p.Tyr622Ter) c.1962C>G (p.Tyr654Ter) c.1908C>G (p.Tyr636Ter) c.1869C>G (p.Tyr623Ter) | |
18 | g.33739390C>T | CA503768728 | ASXL3 | c.1989C>T (p.Tyr663=) c.1986C>T (p.Tyr662=) c.*1110C>T (n.*1110C>T) c.*1645C>T (n.*1645C>T) c.2198C>T (n.2198C>T) c.1818C>T (p.Tyr606=) c.1866C>T (p.Tyr622=) c.1962C>T (p.Tyr654=) c.1908C>T (p.Tyr636=) c.1869C>T (p.Tyr623=) | |
18 | g.33739391A= | CA2294855956 | ASXL3 | c.1990A= (p.Asn664=) c.1987A= (p.Asn663=) c.*1111A= (n.*1111A=) c.*1646A= (n.*1646A=) c.2199A= (n.2199A=) c.1819A= (p.Asn607=) c.1867A= (p.Asn623=) c.1963A= (p.Asn655=) c.1909A= (p.Asn637=) c.1870A= (p.Asn624=) | |
18 | g.33739391A>C | CA402177022 | ASXL3 | c.1990A>C (p.Asn664His) c.1987A>C (p.Asn663His) c.*1111A>C (n.*1111A>C) c.*1646A>C (n.*1646A>C) c.2199A>C (n.2199A>C) c.1819A>C (p.Asn607His) c.1867A>C (p.Asn623His) c.1963A>C (p.Asn655His) c.1909A>C (p.Asn637His) c.1870A>C (p.Asn624His) | |
18 | g.33739391A>G | CA402177023 | ASXL3 | c.1990A>G (p.Asn664Asp) c.1987A>G (p.Asn663Asp) c.*1111A>G (n.*1111A>G) c.*1646A>G (n.*1646A>G) c.2199A>G (n.2199A>G) c.1819A>G (p.Asn607Asp) c.1867A>G (p.Asn623Asp) c.1963A>G (p.Asn655Asp) c.1909A>G (p.Asn637Asp) c.1870A>G (p.Asn624Asp) | |
18 | g.33739391A>T | CA402177024 | ASXL3 | c.1990A>T (p.Asn664Tyr) c.1987A>T (p.Asn663Tyr) c.*1111A>T (n.*1111A>T) c.*1646A>T (n.*1646A>T) c.2199A>T (n.2199A>T) c.1819A>T (p.Asn607Tyr) c.1867A>T (p.Asn623Tyr) c.1963A>T (p.Asn655Tyr) c.1909A>T (p.Asn637Tyr) c.1870A>T (p.Asn624Tyr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739392A>C | CA402177025 | ASXL3 | c.1991A>C (p.Asn664Thr) c.1988A>C (p.Asn663Thr) c.*1112A>C (n.*1112A>C) c.*1647A>C (n.*1647A>C) c.2200A>C (n.2200A>C) c.1820A>C (p.Asn607Thr) c.1868A>C (p.Asn623Thr) c.1964A>C (p.Asn655Thr) c.1910A>C (p.Asn637Thr) c.1871A>C (p.Asn624Thr) | |
18 | g.33739392A>G | CA402177026 | ASXL3 | c.1991A>G (p.Asn664Ser) c.1988A>G (p.Asn663Ser) c.*1112A>G (n.*1112A>G) c.*1647A>G (n.*1647A>G) c.2200A>G (n.2200A>G) c.1820A>G (p.Asn607Ser) c.1868A>G (p.Asn623Ser) c.1964A>G (p.Asn655Ser) c.1910A>G (p.Asn637Ser) c.1871A>G (p.Asn624Ser) | |
18 | g.33739392A>T | CA402177027 | ASXL3 | c.1991A>T (p.Asn664Ile) c.1988A>T (p.Asn663Ile) c.*1112A>T (n.*1112A>T) c.*1647A>T (n.*1647A>T) c.2200A>T (n.2200A>T) c.1820A>T (p.Asn607Ile) c.1868A>T (p.Asn623Ile) c.1964A>T (p.Asn655Ile) c.1910A>T (p.Asn637Ile) c.1871A>T (p.Asn624Ile) | |
18 | g.33739393C>A | CA402177028 | ASXL3 | c.1992C>A (p.Asn664Lys) c.1989C>A (p.Asn663Lys) c.*1113C>A (n.*1113C>A) c.*1648C>A (n.*1648C>A) c.2201C>A (n.2201C>A) c.1821C>A (p.Asn607Lys) c.1869C>A (p.Asn623Lys) c.1965C>A (p.Asn655Lys) c.1911C>A (p.Asn637Lys) c.1872C>A (p.Asn624Lys) | |
18 | g.33739393C>G | CA402177029 | ASXL3 | c.1992C>G (p.Asn664Lys) c.1989C>G (p.Asn663Lys) c.*1113C>G (n.*1113C>G) c.*1648C>G (n.*1648C>G) c.2201C>G (n.2201C>G) c.1821C>G (p.Asn607Lys) c.1869C>G (p.Asn623Lys) c.1965C>G (p.Asn655Lys) c.1911C>G (p.Asn637Lys) c.1872C>G (p.Asn624Lys) | |
18 | g.33739393C>T | CA503768730 | ASXL3 | c.1992C>T (p.Asn664=) c.1989C>T (p.Asn663=) c.*1113C>T (n.*1113C>T) c.*1648C>T (n.*1648C>T) c.2201C>T (n.2201C>T) c.1821C>T (p.Asn607=) c.1869C>T (p.Asn623=) c.1965C>T (p.Asn655=) c.1911C>T (p.Asn637=) c.1872C>T (p.Asn624=) | |
18 | g.33739394C>A | CA402177030 | ASXL3 | c.1993C>A (p.Gln665Lys) c.1990C>A (p.Gln664Lys) c.*1114C>A (n.*1114C>A) c.*1649C>A (n.*1649C>A) c.2202C>A (n.2202C>A) c.1822C>A (p.Gln608Lys) c.1870C>A (p.Gln624Lys) c.1966C>A (p.Gln656Lys) c.1912C>A (p.Gln638Lys) c.1873C>A (p.Gln625Lys) | |
18 | g.33739394C= | CA2294855957 | ASXL3 | c.1993C= (p.Gln665=) c.1990C= (p.Gln664=) c.*1114C= (n.*1114C=) c.*1649C= (n.*1649C=) c.2202C= (n.2202C=) c.1822C= (p.Gln608=) c.1870C= (p.Gln624=) c.1966C= (p.Gln656=) c.1912C= (p.Gln638=) c.1873C= (p.Gln625=) | |
18 | g.33739394C>G | CA8933849 | ASXL3 | c.1993C>G (p.Gln665Glu) c.1990C>G (p.Gln664Glu) c.*1114C>G (n.*1114C>G) c.*1649C>G (n.*1649C>G) c.2202C>G (n.2202C>G) c.1822C>G (p.Gln608Glu) c.1870C>G (p.Gln624Glu) c.1966C>G (p.Gln656Glu) c.1912C>G (p.Gln638Glu) c.1873C>G (p.Gln625Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739394C>T | CA402177031 | ASXL3 | c.1993C>T (p.Gln665Ter) c.1990C>T (p.Gln664Ter) c.*1114C>T (n.*1114C>T) c.*1649C>T (n.*1649C>T) c.2202C>T (n.2202C>T) c.1822C>T (p.Gln608Ter) c.1870C>T (p.Gln624Ter) c.1966C>T (p.Gln656Ter) c.1912C>T (p.Gln638Ter) c.1873C>T (p.Gln625Ter) | ClinVar |
18 | g.33739395A= | CA2294855958 | ASXL3 | c.1994A= (p.Gln665=) c.1991A= (p.Gln664=) c.*1115A= (n.*1115A=) c.*1650A= (n.*1650A=) c.2203A= (n.2203A=) c.1823A= (p.Gln608=) c.1871A= (p.Gln624=) c.1967A= (p.Gln656=) c.1913A= (p.Gln638=) c.1874A= (p.Gln625=) | |
18 | g.33739395A>C | CA402177032 | ASXL3 | c.1994A>C (p.Gln665Pro) c.1991A>C (p.Gln664Pro) c.*1115A>C (n.*1115A>C) c.*1650A>C (n.*1650A>C) c.2203A>C (n.2203A>C) c.1823A>C (p.Gln608Pro) c.1871A>C (p.Gln624Pro) c.1967A>C (p.Gln656Pro) c.1913A>C (p.Gln638Pro) c.1874A>C (p.Gln625Pro) | |
18 | g.33739395A>G | CA8933850 | ASXL3 | c.1994A>G (p.Gln665Arg) c.1991A>G (p.Gln664Arg) c.*1115A>G (n.*1115A>G) c.*1650A>G (n.*1650A>G) c.2203A>G (n.2203A>G) c.1823A>G (p.Gln608Arg) c.1871A>G (p.Gln624Arg) c.1967A>G (p.Gln656Arg) c.1913A>G (p.Gln638Arg) c.1874A>G (p.Gln625Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739395A>T | CA402177033 | ASXL3 | c.1994A>T (p.Gln665Leu) c.1991A>T (p.Gln664Leu) c.*1115A>T (n.*1115A>T) c.*1650A>T (n.*1650A>T) c.2203A>T (n.2203A>T) c.1823A>T (p.Gln608Leu) c.1871A>T (p.Gln624Leu) c.1967A>T (p.Gln656Leu) c.1913A>T (p.Gln638Leu) c.1874A>T (p.Gln625Leu) | |
18 | g.33739396G>A | CA503768734 | ASXL3 | c.1995G>A (p.Gln665=) c.1992G>A (p.Gln664=) c.*1116G>A (n.*1116G>A) c.*1651G>A (n.*1651G>A) c.2204G>A (n.2204G>A) c.1824G>A (p.Gln608=) c.1872G>A (p.Gln624=) c.1968G>A (p.Gln656=) c.1914G>A (p.Gln638=) c.1875G>A (p.Gln625=) | |
18 | g.33739396G>C | CA402177034 | ASXL3 | c.1995G>C (p.Gln665His) c.1992G>C (p.Gln664His) c.*1116G>C (n.*1116G>C) c.*1651G>C (n.*1651G>C) c.2204G>C (n.2204G>C) c.1824G>C (p.Gln608His) c.1872G>C (p.Gln624His) c.1968G>C (p.Gln656His) c.1914G>C (p.Gln638His) c.1875G>C (p.Gln625His) | |
18 | g.33739396G>T | CA402177035 | ASXL3 | c.1995G>T (p.Gln665His) c.1992G>T (p.Gln664His) c.*1116G>T (n.*1116G>T) c.*1651G>T (n.*1651G>T) c.2204G>T (n.2204G>T) c.1824G>T (p.Gln608His) c.1872G>T (p.Gln624His) c.1968G>T (p.Gln656His) c.1914G>T (p.Gln638His) c.1875G>T (p.Gln625His) | |
18 | g.33739397A>C | CA503768739 | ASXL3 | c.1996A>C (p.Arg666=) c.1993A>C (p.Arg665=) c.*1117A>C (n.*1117A>C) c.*1652A>C (n.*1652A>C) c.2205A>C (n.2205A>C) c.1825A>C (p.Arg609=) c.1873A>C (p.Arg625=) c.1969A>C (p.Arg657=) c.1915A>C (p.Arg639=) c.1876A>C (p.Arg626=) | |
18 | g.33739397A>G | CA402177036 | ASXL3 | c.1996A>G (p.Arg666Gly) c.1993A>G (p.Arg665Gly) c.*1117A>G (n.*1117A>G) c.*1652A>G (n.*1652A>G) c.2205A>G (n.2205A>G) c.1825A>G (p.Arg609Gly) c.1873A>G (p.Arg625Gly) c.1969A>G (p.Arg657Gly) c.1915A>G (p.Arg639Gly) c.1876A>G (p.Arg626Gly) | gnomAD v4 |
18 | g.33739397A>T | CA402177037 | ASXL3 | c.1996A>T (p.Arg666Ter) c.1993A>T (p.Arg665Ter) c.*1117A>T (n.*1117A>T) c.*1652A>T (n.*1652A>T) c.2205A>T (n.2205A>T) c.1825A>T (p.Arg609Ter) c.1873A>T (p.Arg625Ter) c.1969A>T (p.Arg657Ter) c.1915A>T (p.Arg639Ter) c.1876A>T (p.Arg626Ter) | |
18 | g.33739398G>A | CA402177038 | ASXL3 | c.1997G>A (p.Arg666Lys) c.1994G>A (p.Arg665Lys) c.*1118G>A (n.*1118G>A) c.*1653G>A (n.*1653G>A) c.2206G>A (n.2206G>A) c.1826G>A (p.Arg609Lys) c.1874G>A (p.Arg625Lys) c.1970G>A (p.Arg657Lys) c.1916G>A (p.Arg639Lys) c.1877G>A (p.Arg626Lys) | |
18 | g.33739398G>C | CA402177039 | ASXL3 | c.1997G>C (p.Arg666Thr) c.1994G>C (p.Arg665Thr) c.*1118G>C (n.*1118G>C) c.*1653G>C (n.*1653G>C) c.2206G>C (n.2206G>C) c.1826G>C (p.Arg609Thr) c.1874G>C (p.Arg625Thr) c.1970G>C (p.Arg657Thr) c.1916G>C (p.Arg639Thr) c.1877G>C (p.Arg626Thr) | |
18 | g.33739398G>T | CA402177040 | ASXL3 | c.1997G>T (p.Arg666Ile) c.1994G>T (p.Arg665Ile) c.*1118G>T (n.*1118G>T) c.*1653G>T (n.*1653G>T) c.2206G>T (n.2206G>T) c.1826G>T (p.Arg609Ile) c.1874G>T (p.Arg625Ile) c.1970G>T (p.Arg657Ile) c.1916G>T (p.Arg639Ile) c.1877G>T (p.Arg626Ile) | |
18 | g.33739399A= | CA2294855959 | ASXL3 | c.1998A= (p.Arg666=) c.1995A= (p.Arg665=) c.*1119A= (n.*1119A=) c.*1654A= (n.*1654A=) c.2207A= (n.2207A=) c.1827A= (p.Arg609=) c.1875A= (p.Arg625=) c.1971A= (p.Arg657=) c.1917A= (p.Arg639=) c.1878A= (p.Arg626=) | |
18 | g.33739399A>C | CA402177041 | ASXL3 | c.1998A>C (p.Arg666Ser) c.1995A>C (p.Arg665Ser) c.*1119A>C (n.*1119A>C) c.*1654A>C (n.*1654A>C) c.2207A>C (n.2207A>C) c.1827A>C (p.Arg609Ser) c.1875A>C (p.Arg625Ser) c.1971A>C (p.Arg657Ser) c.1917A>C (p.Arg639Ser) c.1878A>C (p.Arg626Ser) | gnomAD v4 |
18 | g.33739399A>G | CA8933851 | ASXL3 | c.1998A>G (p.Arg666=) c.1995A>G (p.Arg665=) c.*1119A>G (n.*1119A>G) c.*1654A>G (n.*1654A>G) c.2207A>G (n.2207A>G) c.1827A>G (p.Arg609=) c.1875A>G (p.Arg625=) c.1971A>G (p.Arg657=) c.1917A>G (p.Arg639=) c.1878A>G (p.Arg626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739399A>T | CA402177042 | ASXL3 | c.1998A>T (p.Arg666Ser) c.1995A>T (p.Arg665Ser) c.*1119A>T (n.*1119A>T) c.*1654A>T (n.*1654A>T) c.2207A>T (n.2207A>T) c.1827A>T (p.Arg609Ser) c.1875A>T (p.Arg625Ser) c.1971A>T (p.Arg657Ser) c.1917A>T (p.Arg639Ser) c.1878A>T (p.Arg626Ser) | |
18 | g.33739400A= | CA2294855960 | ASXL3 | c.1999A= (p.Asn667=) c.1996A= (p.Asn666=) c.*1120A= (n.*1120A=) c.*1655A= (n.*1655A=) c.2208A= (n.2208A=) c.1828A= (p.Asn610=) c.1876A= (p.Asn626=) c.1972A= (p.Asn658=) c.1918A= (p.Asn640=) c.1879A= (p.Asn627=) | |
18 | g.33739400A>C | CA402177043 | ASXL3 | c.1999A>C (p.Asn667His) c.1996A>C (p.Asn666His) c.*1120A>C (n.*1120A>C) c.*1655A>C (n.*1655A>C) c.2208A>C (n.2208A>C) c.1828A>C (p.Asn610His) c.1876A>C (p.Asn626His) c.1972A>C (p.Asn658His) c.1918A>C (p.Asn640His) c.1879A>C (p.Asn627His) | |
18 | g.33739400A>G | CA8933852 | ASXL3 | c.1999A>G (p.Asn667Asp) c.1996A>G (p.Asn666Asp) c.*1120A>G (n.*1120A>G) c.*1655A>G (n.*1655A>G) c.2208A>G (n.2208A>G) c.1828A>G (p.Asn610Asp) c.1876A>G (p.Asn626Asp) c.1972A>G (p.Asn658Asp) c.1918A>G (p.Asn640Asp) c.1879A>G (p.Asn627Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739400A>T | CA402177044 | ASXL3 | c.1999A>T (p.Asn667Tyr) c.1996A>T (p.Asn666Tyr) c.*1120A>T (n.*1120A>T) c.*1655A>T (n.*1655A>T) c.2208A>T (n.2208A>T) c.1828A>T (p.Asn610Tyr) c.1876A>T (p.Asn626Tyr) c.1972A>T (p.Asn658Tyr) c.1918A>T (p.Asn640Tyr) c.1879A>T (p.Asn627Tyr) | |
18 | g.33739401A= | CA2294855961 | ASXL3 | c.2000A= (p.Asn667=) c.1997A= (p.Asn666=) c.*1121A= (n.*1121A=) c.*1656A= (n.*1656A=) c.2209A= (n.2209A=) c.1829A= (p.Asn610=) c.1877A= (p.Asn626=) c.1973A= (p.Asn658=) c.1919A= (p.Asn640=) c.1880A= (p.Asn627=) | |
18 | g.33739401A>C | CA402177046 | ASXL3 | c.2000A>C (p.Asn667Thr) c.1997A>C (p.Asn666Thr) c.*1121A>C (n.*1121A>C) c.*1656A>C (n.*1656A>C) c.2209A>C (n.2209A>C) c.1829A>C (p.Asn610Thr) c.1877A>C (p.Asn626Thr) c.1973A>C (p.Asn658Thr) c.1919A>C (p.Asn640Thr) c.1880A>C (p.Asn627Thr) | |
18 | g.33739401A>G | CA297787183 | ASXL3 | c.2000A>G (p.Asn667Ser) c.1997A>G (p.Asn666Ser) c.*1121A>G (n.*1121A>G) c.*1656A>G (n.*1656A>G) c.2209A>G (n.2209A>G) c.1829A>G (p.Asn610Ser) c.1877A>G (p.Asn626Ser) c.1973A>G (p.Asn658Ser) c.1919A>G (p.Asn640Ser) c.1880A>G (p.Asn627Ser) | dbSNP gnomAD v4 |
18 | g.33739401A>T | CA402177045 | ASXL3 | c.2000A>T (p.Asn667Ile) c.1997A>T (p.Asn666Ile) c.*1121A>T (n.*1121A>T) c.*1656A>T (n.*1656A>T) c.2209A>T (n.2209A>T) c.1829A>T (p.Asn610Ile) c.1877A>T (p.Asn626Ile) c.1973A>T (p.Asn658Ile) c.1919A>T (p.Asn640Ile) c.1880A>T (p.Asn627Ile) | |
18 | g.33739402T>A | CA402177047 | ASXL3 | c.2001T>A (p.Asn667Lys) c.1998T>A (p.Asn666Lys) c.*1122T>A (n.*1122T>A) c.*1657T>A (n.*1657T>A) c.2210T>A (n.2210T>A) c.1830T>A (p.Asn610Lys) c.1878T>A (p.Asn626Lys) c.1974T>A (p.Asn658Lys) c.1920T>A (p.Asn640Lys) c.1881T>A (p.Asn627Lys) | |
18 | g.33739402T>C | CA503768742 | ASXL3 | c.2001T>C (p.Asn667=) c.1998T>C (p.Asn666=) c.*1122T>C (n.*1122T>C) c.*1657T>C (n.*1657T>C) c.2210T>C (n.2210T>C) c.1830T>C (p.Asn610=) c.1878T>C (p.Asn626=) c.1974T>C (p.Asn658=) c.1920T>C (p.Asn640=) c.1881T>C (p.Asn627=) | |
18 | g.33739402T>G | CA402177048 | ASXL3 | c.2001T>G (p.Asn667Lys) c.1998T>G (p.Asn666Lys) c.*1122T>G (n.*1122T>G) c.*1657T>G (n.*1657T>G) c.2210T>G (n.2210T>G) c.1830T>G (p.Asn610Lys) c.1878T>G (p.Asn626Lys) c.1974T>G (p.Asn658Lys) c.1920T>G (p.Asn640Lys) c.1881T>G (p.Asn627Lys) | |
18 | g.33739403T>A | CA402177049 | ASXL3 | c.2002T>A (p.Ser668Thr) c.1999T>A (p.Ser667Thr) c.*1123T>A (n.*1123T>A) c.*1658T>A (n.*1658T>A) c.2211T>A (n.2211T>A) c.1831T>A (p.Ser611Thr) c.1879T>A (p.Ser627Thr) c.1975T>A (p.Ser659Thr) c.1921T>A (p.Ser641Thr) c.1882T>A (p.Ser628Thr) | |
18 | g.33739403T>C | CA402177050 | ASXL3 | c.2002T>C (p.Ser668Pro) c.1999T>C (p.Ser667Pro) c.*1123T>C (n.*1123T>C) c.*1658T>C (n.*1658T>C) c.2211T>C (n.2211T>C) c.1831T>C (p.Ser611Pro) c.1879T>C (p.Ser627Pro) c.1975T>C (p.Ser659Pro) c.1921T>C (p.Ser641Pro) c.1882T>C (p.Ser628Pro) | gnomAD v4 |
18 | g.33739403T>G | CA402177051 | ASXL3 | c.2002T>G (p.Ser668Ala) c.1999T>G (p.Ser667Ala) c.*1123T>G (n.*1123T>G) c.*1658T>G (n.*1658T>G) c.2211T>G (n.2211T>G) c.1831T>G (p.Ser611Ala) c.1879T>G (p.Ser627Ala) c.1975T>G (p.Ser659Ala) c.1921T>G (p.Ser641Ala) c.1882T>G (p.Ser628Ala) | |
18 | g.33739404C>A | CA402177052 | ASXL3 | c.2003C>A (p.Ser668Tyr) c.2000C>A (p.Ser667Tyr) c.*1124C>A (n.*1124C>A) c.*1659C>A (n.*1659C>A) c.2212C>A (n.2212C>A) c.1832C>A (p.Ser611Tyr) c.1880C>A (p.Ser627Tyr) c.1976C>A (p.Ser659Tyr) c.1922C>A (p.Ser641Tyr) c.1883C>A (p.Ser628Tyr) | |
18 | g.33739404C>G | CA402177053 | ASXL3 | c.2003C>G (p.Ser668Cys) c.2000C>G (p.Ser667Cys) c.*1124C>G (n.*1124C>G) c.*1659C>G (n.*1659C>G) c.2212C>G (n.2212C>G) c.1832C>G (p.Ser611Cys) c.1880C>G (p.Ser627Cys) c.1976C>G (p.Ser659Cys) c.1922C>G (p.Ser641Cys) c.1883C>G (p.Ser628Cys) | |
18 | g.33739404C>T | CA402177054 | ASXL3 | c.2003C>T (p.Ser668Phe) c.2000C>T (p.Ser667Phe) c.*1124C>T (n.*1124C>T) c.*1659C>T (n.*1659C>T) c.2212C>T (n.2212C>T) c.1832C>T (p.Ser611Phe) c.1880C>T (p.Ser627Phe) c.1976C>T (p.Ser659Phe) c.1922C>T (p.Ser641Phe) c.1883C>T (p.Ser628Phe) | |
18 | g.33739405C>A | CA503768747 | ASXL3 | c.2004C>A (p.Ser668=) c.2001C>A (p.Ser667=) c.*1125C>A (n.*1125C>A) c.*1660C>A (n.*1660C>A) c.2213C>A (n.2213C>A) c.1833C>A (p.Ser611=) c.1881C>A (p.Ser627=) c.1977C>A (p.Ser659=) c.1923C>A (p.Ser641=) c.1884C>A (p.Ser628=) | |
18 | g.33739405C>G | CA503768748 | ASXL3 | c.2004C>G (p.Ser668=) c.2001C>G (p.Ser667=) c.*1125C>G (n.*1125C>G) c.*1660C>G (n.*1660C>G) c.2213C>G (n.2213C>G) c.1833C>G (p.Ser611=) c.1881C>G (p.Ser627=) c.1977C>G (p.Ser659=) c.1923C>G (p.Ser641=) c.1884C>G (p.Ser628=) | gnomAD v4 |
18 | g.33739405C>T | CA503768749 | ASXL3 | c.2004C>T (p.Ser668=) c.2001C>T (p.Ser667=) c.*1125C>T (n.*1125C>T) c.*1660C>T (n.*1660C>T) c.2213C>T (n.2213C>T) c.1833C>T (p.Ser611=) c.1881C>T (p.Ser627=) c.1977C>T (p.Ser659=) c.1923C>T (p.Ser641=) c.1884C>T (p.Ser628=) | COSMIC COSMIC |
18 | g.33739406del | CA2573155244 | ASXL3 | c.2005del (p.Thr669LeufsTer9) c.2002del (p.Thr668LeufsTer9) c.*1126del (n.*1126del) c.*1661del (n.*1661del) c.2214del (n.2214del) c.1834del (p.Thr612LeufsTer9) c.1882del (p.Thr628LeufsTer9) c.1978del (p.Thr660LeufsTer9) c.1924del (p.Thr642LeufsTer9) c.1885del (p.Thr629LeufsTer9) | ClinVar dbSNP |
18 | g.33739406A>C | CA402177055 | ASXL3 | c.2005A>C (p.Thr669Pro) c.2002A>C (p.Thr668Pro) c.*1126A>C (n.*1126A>C) c.*1661A>C (n.*1661A>C) c.2214A>C (n.2214A>C) c.1834A>C (p.Thr612Pro) c.1882A>C (p.Thr628Pro) c.1978A>C (p.Thr660Pro) c.1924A>C (p.Thr642Pro) c.1885A>C (p.Thr629Pro) | |
18 | g.33739406A>G | CA402177056 | ASXL3 | c.2005A>G (p.Thr669Ala) c.2002A>G (p.Thr668Ala) c.*1126A>G (n.*1126A>G) c.*1661A>G (n.*1661A>G) c.2214A>G (n.2214A>G) c.1834A>G (p.Thr612Ala) c.1882A>G (p.Thr628Ala) c.1978A>G (p.Thr660Ala) c.1924A>G (p.Thr642Ala) c.1885A>G (p.Thr629Ala) | |
18 | g.33739406A>T | CA402177057 | ASXL3 | c.2005A>T (p.Thr669Ser) c.2002A>T (p.Thr668Ser) c.*1126A>T (n.*1126A>T) c.*1661A>T (n.*1661A>T) c.2214A>T (n.2214A>T) c.1834A>T (p.Thr612Ser) c.1882A>T (p.Thr628Ser) c.1978A>T (p.Thr660Ser) c.1924A>T (p.Thr642Ser) c.1885A>T (p.Thr629Ser) | gnomAD v4 |
18 | g.33739407C>A | CA402177058 | ASXL3 | c.2006C>A (p.Thr669Asn) c.2003C>A (p.Thr668Asn) c.*1127C>A (n.*1127C>A) c.*1662C>A (n.*1662C>A) c.2215C>A (n.2215C>A) c.1835C>A (p.Thr612Asn) c.1883C>A (p.Thr628Asn) c.1979C>A (p.Thr660Asn) c.1925C>A (p.Thr642Asn) c.1886C>A (p.Thr629Asn) | |
18 | g.33739407C= | CA2294855962 | ASXL3 | c.2006C= (p.Thr669=) c.2003C= (p.Thr668=) c.*1127C= (n.*1127C=) c.*1662C= (n.*1662C=) c.2215C= (n.2215C=) c.1835C= (p.Thr612=) c.1883C= (p.Thr628=) c.1979C= (p.Thr660=) c.1925C= (p.Thr642=) c.1886C= (p.Thr629=) | |
18 | g.33739407C>G | CA402177059 | ASXL3 | c.2006C>G (p.Thr669Ser) c.2003C>G (p.Thr668Ser) c.*1127C>G (n.*1127C>G) c.*1662C>G (n.*1662C>G) c.2215C>G (n.2215C>G) c.1835C>G (p.Thr612Ser) c.1883C>G (p.Thr628Ser) c.1979C>G (p.Thr660Ser) c.1925C>G (p.Thr642Ser) c.1886C>G (p.Thr629Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739407C>T | CA402177060 | ASXL3 | c.2006C>T (p.Thr669Ile) c.2003C>T (p.Thr668Ile) c.*1127C>T (n.*1127C>T) c.*1662C>T (n.*1662C>T) c.2215C>T (n.2215C>T) c.1835C>T (p.Thr612Ile) c.1883C>T (p.Thr628Ile) c.1979C>T (p.Thr660Ile) c.1925C>T (p.Thr642Ile) c.1886C>T (p.Thr629Ile) | |
18 | g.33739408T>A | CA503768754 | ASXL3 | c.2007T>A (p.Thr669=) c.2004T>A (p.Thr668=) c.*1128T>A (n.*1128T>A) c.*1663T>A (n.*1663T>A) c.2216T>A (n.2216T>A) c.1836T>A (p.Thr612=) c.1884T>A (p.Thr628=) c.1980T>A (p.Thr660=) c.1926T>A (p.Thr642=) c.1887T>A (p.Thr629=) | |
18 | g.33739408T>C | CA8933853 | ASXL3 | c.2007T>C (p.Thr669=) c.2004T>C (p.Thr668=) c.*1128T>C (n.*1128T>C) c.*1663T>C (n.*1663T>C) c.2216T>C (n.2216T>C) c.1836T>C (p.Thr612=) c.1884T>C (p.Thr628=) c.1980T>C (p.Thr660=) c.1926T>C (p.Thr642=) c.1887T>C (p.Thr629=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739408T>G | CA503768759 | ASXL3 | c.2007T>G (p.Thr669=) c.2004T>G (p.Thr668=) c.*1128T>G (n.*1128T>G) c.*1663T>G (n.*1663T>G) c.2216T>G (n.2216T>G) c.1836T>G (p.Thr612=) c.1884T>G (p.Thr628=) c.1980T>G (p.Thr660=) c.1926T>G (p.Thr642=) c.1887T>G (p.Thr629=) | |
18 | g.33739408T= | CA2294855963 | ASXL3 | c.2007T= (p.Thr669=) c.2004T= (p.Thr668=) c.*1128T= (n.*1128T=) c.*1663T= (n.*1663T=) c.2216T= (n.2216T=) c.1836T= (p.Thr612=) c.1884T= (p.Thr628=) c.1980T= (p.Thr660=) c.1926T= (p.Thr642=) c.1887T= (p.Thr629=) | |
18 | g.33739411_33739413dup | CA2576484114 | ASXL3 | c.2010_2012dup (p.Asp670_Glu671insAsp) c.2007_2009dup (p.Asp669_Glu670insAsp) c.*1131_*1133dup (n.*1131_*1133dup) c.*1666_*1668dup (n.*1666_*1668dup) c.2219_2221dup (n.2219_2221dup) c.1839_1841dup (p.Asp613_Glu614insAsp) c.1887_1889dup (p.Asp629_Glu630insAsp) c.1983_1985dup (p.Asp661_Glu662insAsp) c.1929_1931dup (p.Asp643_Glu644insAsp) c.1890_1892dup (p.Asp630_Glu631insAsp) | |
18 | g.33739409G>A | CA402177063 | ASXL3 | c.2008G>A (p.Asp670Asn) c.2005G>A (p.Asp669Asn) c.*1129G>A (n.*1129G>A) c.*1664G>A (n.*1664G>A) c.2217G>A (n.2217G>A) c.1837G>A (p.Asp613Asn) c.1885G>A (p.Asp629Asn) c.1981G>A (p.Asp661Asn) c.1927G>A (p.Asp643Asn) c.1888G>A (p.Asp630Asn) | |
18 | g.33739409G>C | CA402177062 | ASXL3 | c.2008G>C (p.Asp670His) c.2005G>C (p.Asp669His) c.*1129G>C (n.*1129G>C) c.*1664G>C (n.*1664G>C) c.2217G>C (n.2217G>C) c.1837G>C (p.Asp613His) c.1885G>C (p.Asp629His) c.1981G>C (p.Asp661His) c.1927G>C (p.Asp643His) c.1888G>C (p.Asp630His) | |
18 | g.33739409G>T | CA402177061 | ASXL3 | c.2008G>T (p.Asp670Tyr) c.2005G>T (p.Asp669Tyr) c.*1129G>T (n.*1129G>T) c.*1664G>T (n.*1664G>T) c.2217G>T (n.2217G>T) c.1837G>T (p.Asp613Tyr) c.1885G>T (p.Asp629Tyr) c.1981G>T (p.Asp661Tyr) c.1927G>T (p.Asp643Tyr) c.1888G>T (p.Asp630Tyr) | |
18 | g.33739410A= | CA2294855964 | ASXL3 | c.2009A= (p.Asp670=) c.2006A= (p.Asp669=) c.*1130A= (n.*1130A=) c.*1665A= (n.*1665A=) c.2218A= (n.2218A=) c.1838A= (p.Asp613=) c.1886A= (p.Asp629=) c.1982A= (p.Asp661=) c.1928A= (p.Asp643=) c.1889A= (p.Asp630=) | |
18 | g.33739410A>C | CA402177064 | ASXL3 | c.2009A>C (p.Asp670Ala) c.2006A>C (p.Asp669Ala) c.*1130A>C (n.*1130A>C) c.*1665A>C (n.*1665A>C) c.2218A>C (n.2218A>C) c.1838A>C (p.Asp613Ala) c.1886A>C (p.Asp629Ala) c.1982A>C (p.Asp661Ala) c.1928A>C (p.Asp643Ala) c.1889A>C (p.Asp630Ala) | |
18 | g.33739410A>G | CA402177065 | ASXL3 | c.2009A>G (p.Asp670Gly) c.2006A>G (p.Asp669Gly) c.*1130A>G (n.*1130A>G) c.*1665A>G (n.*1665A>G) c.2218A>G (n.2218A>G) c.1838A>G (p.Asp613Gly) c.1886A>G (p.Asp629Gly) c.1982A>G (p.Asp661Gly) c.1928A>G (p.Asp643Gly) c.1889A>G (p.Asp630Gly) | dbSNP gnomAD v4 |
18 | g.33739410A>T | CA8933854 | ASXL3 | c.2009A>T (p.Asp670Val) c.2006A>T (p.Asp669Val) c.*1130A>T (n.*1130A>T) c.*1665A>T (n.*1665A>T) c.2218A>T (n.2218A>T) c.1838A>T (p.Asp613Val) c.1886A>T (p.Asp629Val) c.1982A>T (p.Asp661Val) c.1928A>T (p.Asp643Val) c.1889A>T (p.Asp630Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.33739411T>A | CA402177066 | ASXL3 | c.2010T>A (p.Asp670Glu) c.2007T>A (p.Asp669Glu) c.*1131T>A (n.*1131T>A) c.*1666T>A (n.*1666T>A) c.2219T>A (n.2219T>A) c.1839T>A (p.Asp613Glu) c.1887T>A (p.Asp629Glu) c.1983T>A (p.Asp661Glu) c.1929T>A (p.Asp643Glu) c.1890T>A (p.Asp630Glu) | |
18 | g.33739411T>C | CA503768766 | ASXL3 | c.2010T>C (p.Asp670=) c.2007T>C (p.Asp669=) c.*1131T>C (n.*1131T>C) c.*1666T>C (n.*1666T>C) c.2219T>C (n.2219T>C) c.1839T>C (p.Asp613=) c.1887T>C (p.Asp629=) c.1983T>C (p.Asp661=) c.1929T>C (p.Asp643=) c.1890T>C (p.Asp630=) | |
18 | g.33739411T>G | CA402177067 | ASXL3 | c.2010T>G (p.Asp670Glu) c.2007T>G (p.Asp669Glu) c.*1131T>G (n.*1131T>G) c.*1666T>G (n.*1666T>G) c.2219T>G (n.2219T>G) c.1839T>G (p.Asp613Glu) c.1887T>G (p.Asp629Glu) c.1983T>G (p.Asp661Glu) c.1929T>G (p.Asp643Glu) c.1890T>G (p.Asp630Glu) | |
18 | g.33739412G>A | CA402177068 | ASXL3 | c.2011G>A (p.Glu671Lys) c.2008G>A (p.Glu670Lys) c.*1132G>A (n.*1132G>A) c.*1667G>A (n.*1667G>A) c.2220G>A (n.2220G>A) c.1840G>A (p.Glu614Lys) c.1888G>A (p.Glu630Lys) c.1984G>A (p.Glu662Lys) c.1930G>A (p.Glu644Lys) c.1891G>A (p.Glu631Lys) | |
18 | g.33739412G>C | CA402177069 | ASXL3 | c.2011G>C (p.Glu671Gln) c.2008G>C (p.Glu670Gln) c.*1132G>C (n.*1132G>C) c.*1667G>C (n.*1667G>C) c.2220G>C (n.2220G>C) c.1840G>C (p.Glu614Gln) c.1888G>C (p.Glu630Gln) c.1984G>C (p.Glu662Gln) c.1930G>C (p.Glu644Gln) c.1891G>C (p.Glu631Gln) | |
18 | g.33739412G>T | CA402177070 | ASXL3 | c.2011G>T (p.Glu671Ter) c.2008G>T (p.Glu670Ter) c.*1132G>T (n.*1132G>T) c.*1667G>T (n.*1667G>T) c.2220G>T (n.2220G>T) c.1840G>T (p.Glu614Ter) c.1888G>T (p.Glu630Ter) c.1984G>T (p.Glu662Ter) c.1930G>T (p.Glu644Ter) c.1891G>T (p.Glu631Ter) | |
18 | g.33739413A>C | CA402177071 | ASXL3 | c.2012A>C (p.Glu671Ala) c.2009A>C (p.Glu670Ala) c.*1133A>C (n.*1133A>C) c.*1668A>C (n.*1668A>C) c.2221A>C (n.2221A>C) c.1841A>C (p.Glu614Ala) c.1889A>C (p.Glu630Ala) c.1985A>C (p.Glu662Ala) c.1931A>C (p.Glu644Ala) c.1892A>C (p.Glu631Ala) | |
18 | g.33739413A>G | CA402177072 | ASXL3 | c.2012A>G (p.Glu671Gly) c.2009A>G (p.Glu670Gly) c.*1133A>G (n.*1133A>G) c.*1668A>G (n.*1668A>G) c.2221A>G (n.2221A>G) c.1841A>G (p.Glu614Gly) c.1889A>G (p.Glu630Gly) c.1985A>G (p.Glu662Gly) c.1931A>G (p.Glu644Gly) c.1892A>G (p.Glu631Gly) | |
18 | g.33739413A>T | CA402177073 | ASXL3 | c.2012A>T (p.Glu671Val) c.2009A>T (p.Glu670Val) c.*1133A>T (n.*1133A>T) c.*1668A>T (n.*1668A>T) c.2221A>T (n.2221A>T) c.1841A>T (p.Glu614Val) c.1889A>T (p.Glu630Val) c.1985A>T (p.Glu662Val) c.1931A>T (p.Glu644Val) c.1892A>T (p.Glu631Val) | |
18 | g.33739414A>C | CA402177074 | ASXL3 | c.2013A>C (p.Glu671Asp) c.2010A>C (p.Glu670Asp) c.*1134A>C (n.*1134A>C) c.*1669A>C (n.*1669A>C) c.2222A>C (n.2222A>C) c.1842A>C (p.Glu614Asp) c.1890A>C (p.Glu630Asp) c.1986A>C (p.Glu662Asp) c.1932A>C (p.Glu644Asp) c.1893A>C (p.Glu631Asp) | |
18 | g.33739414A>G | CA503768770 | ASXL3 | c.2013A>G (p.Glu671=) c.2010A>G (p.Glu670=) c.*1134A>G (n.*1134A>G) c.*1669A>G (n.*1669A>G) c.2222A>G (n.2222A>G) c.1842A>G (p.Glu614=) c.1890A>G (p.Glu630=) c.1986A>G (p.Glu662=) c.1932A>G (p.Glu644=) c.1893A>G (p.Glu631=) | |
18 | g.33739414A>T | CA402177075 | ASXL3 | c.2013A>T (p.Glu671Asp) c.2010A>T (p.Glu670Asp) c.*1134A>T (n.*1134A>T) c.*1669A>T (n.*1669A>T) c.2222A>T (n.2222A>T) c.1842A>T (p.Glu614Asp) c.1890A>T (p.Glu630Asp) c.1986A>T (p.Glu662Asp) c.1932A>T (p.Glu644Asp) c.1893A>T (p.Glu631Asp) | |
18 | g.33739415A>C | CA402177077 | ASXL3 | c.2014A>C (p.Asn672His) c.2011A>C (p.Asn671His) c.*1135A>C (n.*1135A>C) c.*1670A>C (n.*1670A>C) c.2223A>C (n.2223A>C) c.1843A>C (p.Asn615His) c.1891A>C (p.Asn631His) c.1987A>C (p.Asn663His) c.1933A>C (p.Asn645His) c.1894A>C (p.Asn632His) | |
18 | g.33739415A>G | CA402177078 | ASXL3 | c.2014A>G (p.Asn672Asp) c.2011A>G (p.Asn671Asp) c.*1135A>G (n.*1135A>G) c.*1670A>G (n.*1670A>G) c.2223A>G (n.2223A>G) c.1843A>G (p.Asn615Asp) c.1891A>G (p.Asn631Asp) c.1987A>G (p.Asn663Asp) c.1933A>G (p.Asn645Asp) c.1894A>G (p.Asn632Asp) | |
18 | g.33739415A>T | CA402177076 | ASXL3 | c.2014A>T (p.Asn672Tyr) c.2011A>T (p.Asn671Tyr) c.*1135A>T (n.*1135A>T) c.*1670A>T (n.*1670A>T) c.2223A>T (n.2223A>T) c.1843A>T (p.Asn615Tyr) c.1891A>T (p.Asn631Tyr) c.1987A>T (p.Asn663Tyr) c.1933A>T (p.Asn645Tyr) c.1894A>T (p.Asn632Tyr) | |
18 | g.33739416A>C | CA402177079 | ASXL3 | c.2015A>C (p.Asn672Thr) c.2012A>C (p.Asn671Thr) c.*1136A>C (n.*1136A>C) c.*1671A>C (n.*1671A>C) c.2224A>C (n.2224A>C) c.1844A>C (p.Asn615Thr) c.1892A>C (p.Asn631Thr) c.1988A>C (p.Asn663Thr) c.1934A>C (p.Asn645Thr) c.1895A>C (p.Asn632Thr) | |
18 | g.33739416A>G | CA402177080 | ASXL3 | c.2015A>G (p.Asn672Ser) c.2012A>G (p.Asn671Ser) c.*1136A>G (n.*1136A>G) c.*1671A>G (n.*1671A>G) c.2224A>G (n.2224A>G) c.1844A>G (p.Asn615Ser) c.1892A>G (p.Asn631Ser) c.1988A>G (p.Asn663Ser) c.1934A>G (p.Asn645Ser) c.1895A>G (p.Asn632Ser) | |
18 | g.33739416A>T | CA402177081 | ASXL3 | c.2015A>T (p.Asn672Ile) c.2012A>T (p.Asn671Ile) c.*1136A>T (n.*1136A>T) c.*1671A>T (n.*1671A>T) c.2224A>T (n.2224A>T) c.1844A>T (p.Asn615Ile) c.1892A>T (p.Asn631Ile) c.1988A>T (p.Asn663Ile) c.1934A>T (p.Asn645Ile) c.1895A>T (p.Asn632Ile) | |
18 | g.33739417C>A | CA402177082 | ASXL3 | c.2016C>A (p.Asn672Lys) c.2013C>A (p.Asn671Lys) c.*1137C>A (n.*1137C>A) c.*1672C>A (n.*1672C>A) c.2225C>A (n.2225C>A) c.1845C>A (p.Asn615Lys) c.1893C>A (p.Asn631Lys) c.1989C>A (p.Asn663Lys) c.1935C>A (p.Asn645Lys) c.1896C>A (p.Asn632Lys) | |
18 | g.33739417C= | CA2294855965 | ASXL3 | c.2016C= (p.Asn672=) c.2013C= (p.Asn671=) c.*1137C= (n.*1137C=) c.*1672C= (n.*1672C=) c.2225C= (n.2225C=) c.1845C= (p.Asn615=) c.1893C= (p.Asn631=) c.1989C= (p.Asn663=) c.1935C= (p.Asn645=) c.1896C= (p.Asn632=) | |
18 | g.33739417C>G | CA402177083 | ASXL3 | c.2016C>G (p.Asn672Lys) c.2013C>G (p.Asn671Lys) c.*1137C>G (n.*1137C>G) c.*1672C>G (n.*1672C>G) c.2225C>G (n.2225C>G) c.1845C>G (p.Asn615Lys) c.1893C>G (p.Asn631Lys) c.1989C>G (p.Asn663Lys) c.1935C>G (p.Asn645Lys) c.1896C>G (p.Asn632Lys) | gnomAD v4 |
18 | g.33739417C>T | CA503768775 | ASXL3 | c.2016C>T (p.Asn672=) c.2013C>T (p.Asn671=) c.*1137C>T (n.*1137C>T) c.*1672C>T (n.*1672C>T) c.2225C>T (n.2225C>T) c.1845C>T (p.Asn615=) c.1893C>T (p.Asn631=) c.1989C>T (p.Asn663=) c.1935C>T (p.Asn645=) c.1896C>T (p.Asn632=) | dbSNP gnomAD v2 |
18 | g.33739418T>A | CA402177084 | ASXL3 | c.2017T>A (p.Phe673Ile) c.2014T>A (p.Phe672Ile) c.*1138T>A (n.*1138T>A) c.*1673T>A (n.*1673T>A) c.2226T>A (n.2226T>A) c.1846T>A (p.Phe616Ile) c.1894T>A (p.Phe632Ile) c.1990T>A (p.Phe664Ile) c.1936T>A (p.Phe646Ile) c.1897T>A (p.Phe633Ile) | |
18 | g.33739418T>C | CA402177085 | ASXL3 | c.2017T>C (p.Phe673Leu) c.2014T>C (p.Phe672Leu) c.*1138T>C (n.*1138T>C) c.*1673T>C (n.*1673T>C) c.2226T>C (n.2226T>C) c.1846T>C (p.Phe616Leu) c.1894T>C (p.Phe632Leu) c.1990T>C (p.Phe664Leu) c.1936T>C (p.Phe646Leu) c.1897T>C (p.Phe633Leu) | |
18 | g.33739418T>G | CA402177086 | ASXL3 | c.2017T>G (p.Phe673Val) c.2014T>G (p.Phe672Val) c.*1138T>G (n.*1138T>G) c.*1673T>G (n.*1673T>G) c.2226T>G (n.2226T>G) c.1846T>G (p.Phe616Val) c.1894T>G (p.Phe632Val) c.1990T>G (p.Phe664Val) c.1936T>G (p.Phe646Val) c.1897T>G (p.Phe633Val) | |
18 | g.33739419T>A | CA402177087 | ASXL3 | c.2018T>A (p.Phe673Tyr) c.2015T>A (p.Phe672Tyr) c.*1139T>A (n.*1139T>A) c.*1674T>A (n.*1674T>A) c.2227T>A (n.2227T>A) c.1847T>A (p.Phe616Tyr) c.1895T>A (p.Phe632Tyr) c.1991T>A (p.Phe664Tyr) c.1937T>A (p.Phe646Tyr) c.1898T>A (p.Phe633Tyr) | |
18 | g.33739419T>C | CA402177088 | ASXL3 | c.2018T>C (p.Phe673Ser) c.2015T>C (p.Phe672Ser) c.*1139T>C (n.*1139T>C) c.*1674T>C (n.*1674T>C) c.2227T>C (n.2227T>C) c.1847T>C (p.Phe616Ser) c.1895T>C (p.Phe632Ser) c.1991T>C (p.Phe664Ser) c.1937T>C (p.Phe646Ser) c.1898T>C (p.Phe633Ser) | |
18 | g.33739419T>G | CA402177089 | ASXL3 | c.2018T>G (p.Phe673Cys) c.2015T>G (p.Phe672Cys) c.*1139T>G (n.*1139T>G) c.*1674T>G (n.*1674T>G) c.2227T>G (n.2227T>G) c.1847T>G (p.Phe616Cys) c.1895T>G (p.Phe632Cys) c.1991T>G (p.Phe664Cys) c.1937T>G (p.Phe646Cys) c.1898T>G (p.Phe633Cys) | |
18 | g.33739420T>A | CA402177090 | ASXL3 | c.2019T>A (p.Phe673Leu) c.2016T>A (p.Phe672Leu) c.*1140T>A (n.*1140T>A) c.*1675T>A (n.*1675T>A) c.2228T>A (n.2228T>A) c.1848T>A (p.Phe616Leu) c.1896T>A (p.Phe632Leu) c.1992T>A (p.Phe664Leu) c.1938T>A (p.Phe646Leu) c.1899T>A (p.Phe633Leu) | |
18 | g.33739420T>C | CA503768776 | ASXL3 | c.2019T>C (p.Phe673=) c.2016T>C (p.Phe672=) c.*1140T>C (n.*1140T>C) c.*1675T>C (n.*1675T>C) c.2228T>C (n.2228T>C) c.1848T>C (p.Phe616=) c.1896T>C (p.Phe632=) c.1992T>C (p.Phe664=) c.1938T>C (p.Phe646=) c.1899T>C (p.Phe633=) | gnomAD v4 |
18 | g.33739420T>G | CA402177091 | ASXL3 | c.2019T>G (p.Phe673Leu) c.2016T>G (p.Phe672Leu) c.*1140T>G (n.*1140T>G) c.*1675T>G (n.*1675T>G) c.2228T>G (n.2228T>G) c.1848T>G (p.Phe616Leu) c.1896T>G (p.Phe632Leu) c.1992T>G (p.Phe664Leu) c.1938T>G (p.Phe646Leu) c.1899T>G (p.Phe633Leu) | |
18 | g.33739421C>A | CA402177092 | ASXL3 | c.2020C>A (p.His674Asn) c.2017C>A (p.His673Asn) c.*1141C>A (n.*1141C>A) c.*1676C>A (n.*1676C>A) c.2229C>A (n.2229C>A) c.1849C>A (p.His617Asn) c.1897C>A (p.His633Asn) c.1993C>A (p.His665Asn) c.1939C>A (p.His647Asn) c.1900C>A (p.His634Asn) | |
18 | g.33739421C>G | CA402177094 | ASXL3 | c.2020C>G (p.His674Asp) c.2017C>G (p.His673Asp) c.*1141C>G (n.*1141C>G) c.*1676C>G (n.*1676C>G) c.2229C>G (n.2229C>G) c.1849C>G (p.His617Asp) c.1897C>G (p.His633Asp) c.1993C>G (p.His665Asp) c.1939C>G (p.His647Asp) c.1900C>G (p.His634Asp) | gnomAD v4 |
18 | g.33739421C>T | CA402177093 | ASXL3 | c.2020C>T (p.His674Tyr) c.2017C>T (p.His673Tyr) c.*1141C>T (n.*1141C>T) c.*1676C>T (n.*1676C>T) c.2229C>T (n.2229C>T) c.1849C>T (p.His617Tyr) c.1897C>T (p.His633Tyr) c.1993C>T (p.His665Tyr) c.1939C>T (p.His647Tyr) c.1900C>T (p.His634Tyr) | |
18 | g.33739422A= | CA2294855966 | ASXL3 | c.2021A= (p.His674=) c.2018A= (p.His673=) c.*1142A= (n.*1142A=) c.*1677A= (n.*1677A=) c.2230A= (n.2230A=) c.1850A= (p.His617=) c.1898A= (p.His633=) c.1994A= (p.His665=) c.1940A= (p.His647=) c.1901A= (p.His634=) | |
18 | g.33739422A>C | CA402177095 | ASXL3 | c.2021A>C (p.His674Pro) c.2018A>C (p.His673Pro) c.*1142A>C (n.*1142A>C) c.*1677A>C (n.*1677A>C) c.2230A>C (n.2230A>C) c.1850A>C (p.His617Pro) c.1898A>C (p.His633Pro) c.1994A>C (p.His665Pro) c.1940A>C (p.His647Pro) c.1901A>C (p.His634Pro) | |
18 | g.33739422A>G | CA402177096 | ASXL3 | c.2021A>G (p.His674Arg) c.2018A>G (p.His673Arg) c.*1142A>G (n.*1142A>G) c.*1677A>G (n.*1677A>G) c.2230A>G (n.2230A>G) c.1850A>G (p.His617Arg) c.1898A>G (p.His633Arg) c.1994A>G (p.His665Arg) c.1940A>G (p.His647Arg) c.1901A>G (p.His634Arg) | dbSNP |
18 | g.33739422A>T | CA402177097 | ASXL3 | c.2021A>T (p.His674Leu) c.2018A>T (p.His673Leu) c.*1142A>T (n.*1142A>T) c.*1677A>T (n.*1677A>T) c.2230A>T (n.2230A>T) c.1850A>T (p.His617Leu) c.1898A>T (p.His633Leu) c.1994A>T (p.His665Leu) c.1940A>T (p.His647Leu) c.1901A>T (p.His634Leu) | |
18 | g.33739422_33739423insGGTGAAG | CA2294855967 | ASXL3 | c.2021_2022insGGTGAAG (p.His674GlnfsTer18) c.2018_2019insGGTGAAG (p.His673GlnfsTer18) c.*1142_*1143insGGTGAAG (n.*1142_*1143insGGTGAAG) c.*1677_*1678insGGTGAAG (n.*1677_*1678insGGTGAAG) c.2230_2231insGGTGAAG (n.2230_2231insGGTGAAG) c.1850_1851insGGTGAAG (p.His617GlnfsTer18) c.1898_1899insGGTGAAG (p.His633GlnfsTer18) c.1994_1995insGGTGAAG (p.His665GlnfsTer18) c.1940_1941insGGTGAAG (p.His647GlnfsTer18) c.1901_1902insGGTGAAG (p.His634GlnfsTer18) | dbSNP |
18 | g.33739423T>A | CA402177098 | ASXL3 | c.2022T>A (p.His674Gln) c.2019T>A (p.His673Gln) c.*1143T>A (n.*1143T>A) c.*1678T>A (n.*1678T>A) c.2231T>A (n.2231T>A) c.1851T>A (p.His617Gln) c.1899T>A (p.His633Gln) c.1995T>A (p.His665Gln) c.1941T>A (p.His647Gln) c.1902T>A (p.His634Gln) | |
18 | g.33739423T>C | CA503768784 | ASXL3 | c.2022T>C (p.His674=) c.2019T>C (p.His673=) c.*1143T>C (n.*1143T>C) c.*1678T>C (n.*1678T>C) c.2231T>C (n.2231T>C) c.1851T>C (p.His617=) c.1899T>C (p.His633=) c.1995T>C (p.His665=) c.1941T>C (p.His647=) c.1902T>C (p.His634=) | |
18 | g.33739423T>G | CA402177099 | ASXL3 | c.2022T>G (p.His674Gln) c.2019T>G (p.His673Gln) c.*1143T>G (n.*1143T>G) c.*1678T>G (n.*1678T>G) c.2231T>G (n.2231T>G) c.1851T>G (p.His617Gln) c.1899T>G (p.His633Gln) c.1995T>G (p.His665Gln) c.1941T>G (p.His647Gln) c.1902T>G (p.His634Gln) | |
18 | g.33739424G>A | CA402177100 | ASXL3 | c.2023G>A (p.Ala675Thr) c.2020G>A (p.Ala674Thr) c.*1144G>A (n.*1144G>A) c.*1679G>A (n.*1679G>A) c.2232G>A (n.2232G>A) c.1852G>A (p.Ala618Thr) c.1900G>A (p.Ala634Thr) c.1996G>A (p.Ala666Thr) c.1942G>A (p.Ala648Thr) c.1903G>A (p.Ala635Thr) | dbSNP gnomAD v4 |
18 | g.33739424G>C | CA402177101 | ASXL3 | c.2023G>C (p.Ala675Pro) c.2020G>C (p.Ala674Pro) c.*1144G>C (n.*1144G>C) c.*1679G>C (n.*1679G>C) c.2232G>C (n.2232G>C) c.1852G>C (p.Ala618Pro) c.1900G>C (p.Ala634Pro) c.1996G>C (p.Ala666Pro) c.1942G>C (p.Ala648Pro) c.1903G>C (p.Ala635Pro) | |
18 | g.33739424G= | CA2294855968 | ASXL3 | c.2023G= (p.Ala675=) c.2020G= (p.Ala674=) c.*1144G= (n.*1144G=) c.*1679G= (n.*1679G=) c.2232G= (n.2232G=) c.1852G= (p.Ala618=) c.1900G= (p.Ala634=) c.1996G= (p.Ala666=) c.1942G= (p.Ala648=) c.1903G= (p.Ala635=) | |
18 | g.33739424G>T | CA402177102 | ASXL3 | c.2023G>T (p.Ala675Ser) c.2020G>T (p.Ala674Ser) c.*1144G>T (n.*1144G>T) c.*1679G>T (n.*1679G>T) c.2232G>T (n.2232G>T) c.1852G>T (p.Ala618Ser) c.1900G>T (p.Ala634Ser) c.1996G>T (p.Ala666Ser) c.1942G>T (p.Ala648Ser) c.1903G>T (p.Ala635Ser) | |
18 | g.33739425C>A | CA402177103 | ASXL3 | c.2024C>A (p.Ala675Glu) c.2021C>A (p.Ala674Glu) c.*1145C>A (n.*1145C>A) c.*1680C>A (n.*1680C>A) c.2233C>A (n.2233C>A) c.1853C>A (p.Ala618Glu) c.1901C>A (p.Ala634Glu) c.1997C>A (p.Ala666Glu) c.1943C>A (p.Ala648Glu) c.1904C>A (p.Ala635Glu) | gnomAD v3 gnomAD v4 |
18 | g.33739425C= | CA2294855969 | ASXL3 | c.2024C= (p.Ala675=) c.2021C= (p.Ala674=) c.*1145C= (n.*1145C=) c.*1680C= (n.*1680C=) c.2233C= (n.2233C=) c.1853C= (p.Ala618=) c.1901C= (p.Ala634=) c.1997C= (p.Ala666=) c.1943C= (p.Ala648=) c.1904C= (p.Ala635=) | |
18 | g.33739425C>G | CA402177104 | ASXL3 | c.2024C>G (p.Ala675Gly) c.2021C>G (p.Ala674Gly) c.*1145C>G (n.*1145C>G) c.*1680C>G (n.*1680C>G) c.2233C>G (n.2233C>G) c.1853C>G (p.Ala618Gly) c.1901C>G (p.Ala634Gly) c.1997C>G (p.Ala666Gly) c.1943C>G (p.Ala648Gly) c.1904C>G (p.Ala635Gly) | dbSNP |
18 | g.33739425C>T | CA402177105 | ASXL3 | c.2024C>T (p.Ala675Val) c.2021C>T (p.Ala674Val) c.*1145C>T (n.*1145C>T) c.*1680C>T (n.*1680C>T) c.2233C>T (n.2233C>T) c.1853C>T (p.Ala618Val) c.1901C>T (p.Ala634Val) c.1997C>T (p.Ala666Val) c.1943C>T (p.Ala648Val) c.1904C>T (p.Ala635Val) | dbSNP gnomAD v4 |
18 | g.33739426A= | CA2294855970 | ASXL3 | c.2025A= (p.Ala675=) c.2022A= (p.Ala674=) c.*1146A= (n.*1146A=) c.*1681A= (n.*1681A=) c.2234A= (n.2234A=) c.1854A= (p.Ala618=) c.1902A= (p.Ala634=) c.1998A= (p.Ala666=) c.1944A= (p.Ala648=) c.1905A= (p.Ala635=) | |
18 | g.33739426A>C | CA503768789 | ASXL3 | c.2025A>C (p.Ala675=) c.2022A>C (p.Ala674=) c.*1146A>C (n.*1146A>C) c.*1681A>C (n.*1681A>C) c.2234A>C (n.2234A>C) c.1854A>C (p.Ala618=) c.1902A>C (p.Ala634=) c.1998A>C (p.Ala666=) c.1944A>C (p.Ala648=) c.1905A>C (p.Ala635=) | |
18 | g.33739426A>G | CA8933855 | ASXL3 | c.2025A>G (p.Ala675=) c.2022A>G (p.Ala674=) c.*1146A>G (n.*1146A>G) c.*1681A>G (n.*1681A>G) c.2234A>G (n.2234A>G) c.1854A>G (p.Ala618=) c.1902A>G (p.Ala634=) c.1998A>G (p.Ala666=) c.1944A>G (p.Ala648=) c.1905A>G (p.Ala635=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739426A>T | CA503768788 | ASXL3 | c.2025A>T (p.Ala675=) c.2022A>T (p.Ala674=) c.*1146A>T (n.*1146A>T) c.*1681A>T (n.*1681A>T) c.2234A>T (n.2234A>T) c.1854A>T (p.Ala618=) c.1902A>T (p.Ala634=) c.1998A>T (p.Ala666=) c.1944A>T (p.Ala648=) c.1905A>T (p.Ala635=) | |
18 | g.33739427T>A | CA402177107 | ASXL3 | c.2026T>A (p.Ser676Thr) c.2023T>A (p.Ser675Thr) c.*1147T>A (n.*1147T>A) c.*1682T>A (n.*1682T>A) c.2235T>A (n.2235T>A) c.1855T>A (p.Ser619Thr) c.1903T>A (p.Ser635Thr) c.1999T>A (p.Ser667Thr) c.1945T>A (p.Ser649Thr) c.1906T>A (p.Ser636Thr) | |
18 | g.33739427T>C | CA402177106 | ASXL3 | c.2026T>C (p.Ser676Pro) c.2023T>C (p.Ser675Pro) c.*1147T>C (n.*1147T>C) c.*1682T>C (n.*1682T>C) c.2235T>C (n.2235T>C) c.1855T>C (p.Ser619Pro) c.1903T>C (p.Ser635Pro) c.1999T>C (p.Ser667Pro) c.1945T>C (p.Ser649Pro) c.1906T>C (p.Ser636Pro) | |
18 | g.33739427T>G | CA402177108 | ASXL3 | c.2026T>G (p.Ser676Ala) c.2023T>G (p.Ser675Ala) c.*1147T>G (n.*1147T>G) c.*1682T>G (n.*1682T>G) c.2235T>G (n.2235T>G) c.1855T>G (p.Ser619Ala) c.1903T>G (p.Ser635Ala) c.1999T>G (p.Ser667Ala) c.1945T>G (p.Ser649Ala) c.1906T>G (p.Ser636Ala) | gnomAD v4 |
18 | g.33739428C>A | CA8933856 | ASXL3 | c.2027C>A (p.Ser676Tyr) c.2024C>A (p.Ser675Tyr) c.*1148C>A (n.*1148C>A) c.*1683C>A (n.*1683C>A) c.2236C>A (n.2236C>A) c.1856C>A (p.Ser619Tyr) c.1904C>A (p.Ser635Tyr) c.2000C>A (p.Ser667Tyr) c.1946C>A (p.Ser649Tyr) c.1907C>A (p.Ser636Tyr) | dbSNP ExAC gnomAD v2 |
18 | g.33739428C= | CA2294855971 | ASXL3 | c.2027C= (p.Ser676=) c.2024C= (p.Ser675=) c.*1148C= (n.*1148C=) c.*1683C= (n.*1683C=) c.2236C= (n.2236C=) c.1856C= (p.Ser619=) c.1904C= (p.Ser635=) c.2000C= (p.Ser667=) c.1946C= (p.Ser649=) c.1907C= (p.Ser636=) | |
18 | g.33739428C>G | CA402177109 | ASXL3 | c.2027C>G (p.Ser676Cys) c.2024C>G (p.Ser675Cys) c.*1148C>G (n.*1148C>G) c.*1683C>G (n.*1683C>G) c.2236C>G (n.2236C>G) c.1856C>G (p.Ser619Cys) c.1904C>G (p.Ser635Cys) c.2000C>G (p.Ser667Cys) c.1946C>G (p.Ser649Cys) c.1907C>G (p.Ser636Cys) | |
18 | g.33739428C>T | CA402177110 | ASXL3 | c.2027C>T (p.Ser676Phe) c.2024C>T (p.Ser675Phe) c.*1148C>T (n.*1148C>T) c.*1683C>T (n.*1683C>T) c.2236C>T (n.2236C>T) c.1856C>T (p.Ser619Phe) c.1904C>T (p.Ser635Phe) c.2000C>T (p.Ser667Phe) c.1946C>T (p.Ser649Phe) c.1907C>T (p.Ser636Phe) | |
18 | g.33739429T>A | CA503768792 | ASXL3 | c.2028T>A (p.Ser676=) c.2025T>A (p.Ser675=) c.*1149T>A (n.*1149T>A) c.*1684T>A (n.*1684T>A) c.2237T>A (n.2237T>A) c.1857T>A (p.Ser619=) c.1905T>A (p.Ser635=) c.2001T>A (p.Ser667=) c.1947T>A (p.Ser649=) c.1908T>A (p.Ser636=) | |
18 | g.33739429T>C | CA8933857 | ASXL3 | c.2028T>C (p.Ser676=) c.2025T>C (p.Ser675=) c.*1149T>C (n.*1149T>C) c.*1684T>C (n.*1684T>C) c.2237T>C (n.2237T>C) c.1857T>C (p.Ser619=) c.1905T>C (p.Ser635=) c.2001T>C (p.Ser667=) c.1947T>C (p.Ser649=) c.1908T>C (p.Ser636=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.33739429T>G | CA503768798 | ASXL3 | c.2028T>G (p.Ser676=) c.2025T>G (p.Ser675=) c.*1149T>G (n.*1149T>G) c.*1684T>G (n.*1684T>G) c.2237T>G (n.2237T>G) c.1857T>G (p.Ser619=) c.1905T>G (p.Ser635=) c.2001T>G (p.Ser667=) c.1947T>G (p.Ser649=) c.1908T>G (p.Ser636=) | |
18 | g.33739429T= | CA2294855972 | ASXL3 | c.2028T= (p.Ser676=) c.2025T= (p.Ser675=) c.*1149T= (n.*1149T=) c.*1684T= (n.*1684T=) c.2237T= (n.2237T=) c.1857T= (p.Ser619=) c.1905T= (p.Ser635=) c.2001T= (p.Ser667=) c.1947T= (p.Ser649=) c.1908T= (p.Ser636=) | |
18 | g.33739430T>A | CA402177116 | ASXL3 | c.2029T>A (p.Leu677Met) c.2026T>A (p.Leu676Met) c.*1150T>A (n.*1150T>A) c.*1685T>A (n.*1685T>A) c.2238T>A (n.2238T>A) c.1858T>A (p.Leu620Met) c.1906T>A (p.Leu636Met) c.2002T>A (p.Leu668Met) c.1948T>A (p.Leu650Met) c.1909T>A (p.Leu637Met) | |
18 | g.33739430T>C | CA503768800 | ASXL3 | c.2029T>C (p.Leu677=) c.2026T>C (p.Leu676=) c.*1150T>C (n.*1150T>C) c.*1685T>C (n.*1685T>C) c.2238T>C (n.2238T>C) c.1858T>C (p.Leu620=) c.1906T>C (p.Leu636=) c.2002T>C (p.Leu668=) c.1948T>C (p.Leu650=) c.1909T>C (p.Leu637=) | gnomAD v4 |
18 | g.33739430T>G | CA402177118 | ASXL3 | c.2029T>G (p.Leu677Val) c.2026T>G (p.Leu676Val) c.*1150T>G (n.*1150T>G) c.*1685T>G (n.*1685T>G) c.2238T>G (n.2238T>G) c.1858T>G (p.Leu620Val) c.1906T>G (p.Leu636Val) c.2002T>G (p.Leu668Val) c.1948T>G (p.Leu650Val) c.1909T>G (p.Leu637Val) | |
18 | g.33739431T>A | CA402177122 | ASXL3 | c.2030T>A (p.Leu677Ter) c.2027T>A (p.Leu676Ter) c.*1151T>A (n.*1151T>A) c.*1686T>A (n.*1686T>A) c.2239T>A (n.2239T>A) c.1859T>A (p.Leu620Ter) c.1907T>A (p.Leu636Ter) c.2003T>A (p.Leu668Ter) c.1949T>A (p.Leu650Ter) c.1910T>A (p.Leu637Ter) | |
18 | g.33739431T>C | CA402177123 | ASXL3 | c.2030T>C (p.Leu677Ser) c.2027T>C (p.Leu676Ser) c.*1151T>C (n.*1151T>C) c.*1686T>C (n.*1686T>C) c.2239T>C (n.2239T>C) c.1859T>C (p.Leu620Ser) c.1907T>C (p.Leu636Ser) c.2003T>C (p.Leu668Ser) c.1949T>C (p.Leu650Ser) c.1910T>C (p.Leu637Ser) | |
18 | g.33739431T>G | CA402177127 | ASXL3 | c.2030T>G (p.Leu677Trp) c.2027T>G (p.Leu676Trp) c.*1151T>G (n.*1151T>G) c.*1686T>G (n.*1686T>G) c.2239T>G (n.2239T>G) c.1859T>G (p.Leu620Trp) c.1907T>G (p.Leu636Trp) c.2003T>G (p.Leu668Trp) c.1949T>G (p.Leu650Trp) c.1910T>G (p.Leu637Trp) | dbSNP |
18 | g.33739431T= | CA2294855973 | ASXL3 | c.2030T= (p.Leu677=) c.2027T= (p.Leu676=) c.*1151T= (n.*1151T=) c.*1686T= (n.*1686T=) c.2239T= (n.2239T=) c.1859T= (p.Leu620=) c.1907T= (p.Leu636=) c.2003T= (p.Leu668=) c.1949T= (p.Leu650=) c.1910T= (p.Leu637=) | |
18 | g.33739432G>A | CA503768802 | ASXL3 | c.2031G>A (p.Leu677=) c.2028G>A (p.Leu676=) c.*1152G>A (n.*1152G>A) c.*1687G>A (n.*1687G>A) c.2240G>A (n.2240G>A) c.1860G>A (p.Leu620=) c.1908G>A (p.Leu636=) c.2004G>A (p.Leu668=) c.1950G>A (p.Leu650=) c.1911G>A (p.Leu637=) | COSMIC COSMIC |
18 | g.33739432G>C | CA402177130 | ASXL3 | c.2031G>C (p.Leu677Phe) c.2028G>C (p.Leu676Phe) c.*1152G>C (n.*1152G>C) c.*1687G>C (n.*1687G>C) c.2240G>C (n.2240G>C) c.1860G>C (p.Leu620Phe) c.1908G>C (p.Leu636Phe) c.2004G>C (p.Leu668Phe) c.1950G>C (p.Leu650Phe) c.1911G>C (p.Leu637Phe) | gnomAD v4 |
18 | g.33739432G>T | CA402177133 | ASXL3 | c.2031G>T (p.Leu677Phe) c.2028G>T (p.Leu676Phe) c.*1152G>T (n.*1152G>T) c.*1687G>T (n.*1687G>T) c.2240G>T (n.2240G>T) c.1860G>T (p.Leu620Phe) c.1908G>T (p.Leu636Phe) c.2004G>T (p.Leu668Phe) c.1950G>T (p.Leu650Phe) c.1911G>T (p.Leu637Phe) | |
18 | g.33739432_33739437delinsGATGTC | CA2294855974 | ASXL3 | c.2031_2036delinsGATGTC (p.Leu677=) c.2028_2033delinsGATGTC (p.Leu676=) c.*1152_*1157delinsGATGTC (n.*1152_*1157delinsGATGTC) c.*1687_*1692delinsGATGTC (n.*1687_*1692delinsGATGTC) c.2240_2245delinsGATGTC (n.2240_2245delinsGATGTC) c.1860_1865delinsGATGTC (p.Leu620=) c.1908_1913delinsGATGTC (p.Leu636=) c.2004_2009delinsGATGTC (p.Leu668=) c.1950_1955delinsGATGTC (p.Leu650=) c.1911_1916delinsGATGTC (p.Leu637=) | |
18 | g.33739433A>C | CA402177140 | ASXL3 | c.2032A>C (p.Met678Leu) c.2029A>C (p.Met677Leu) c.*1153A>C (n.*1153A>C) c.*1688A>C (n.*1688A>C) c.2241A>C (n.2241A>C) c.1861A>C (p.Met621Leu) c.1909A>C (p.Met637Leu) c.2005A>C (p.Met669Leu) c.1951A>C (p.Met651Leu) c.1912A>C (p.Met638Leu) | |
18 | g.33739433A>G | CA402177138 | ASXL3 | c.2032A>G (p.Met678Val) c.2029A>G (p.Met677Val) c.*1153A>G (n.*1153A>G) c.*1688A>G (n.*1688A>G) c.2241A>G (n.2241A>G) c.1861A>G (p.Met621Val) c.1909A>G (p.Met637Val) c.2005A>G (p.Met669Val) c.1951A>G (p.Met651Val) c.1912A>G (p.Met638Val) | |
18 | g.33739433A>T | CA402177136 | ASXL3 | c.2032A>T (p.Met678Leu) c.2029A>T (p.Met677Leu) c.*1153A>T (n.*1153A>T) c.*1688A>T (n.*1688A>T) c.2241A>T (n.2241A>T) c.1861A>T (p.Met621Leu) c.1909A>T (p.Met637Leu) c.2005A>T (p.Met669Leu) c.1951A>T (p.Met651Leu) c.1912A>T (p.Met638Leu) | |
18 | g.33739434_33739438del | CA2294855975 | ASXL3 | c.2033_2037del (p.Met678ArgfsTer10) c.2030_2034del (p.Met677ArgfsTer10) c.*1154_*1158del (n.*1154_*1158del) c.*1689_*1693del (n.*1689_*1693del) c.2242_2246del (n.2242_2246del) c.1862_1866del (p.Met621ArgfsTer10) c.1910_1914del (p.Met637ArgfsTer10) c.2006_2010del (p.Met669ArgfsTer10) c.1952_1956del (p.Met651ArgfsTer10) c.1913_1917del (p.Met638ArgfsTer10) | dbSNP |
18 | g.33739434T>A | CA402177143 | ASXL3 | c.2033T>A (p.Met678Lys) c.2030T>A (p.Met677Lys) c.*1154T>A (n.*1154T>A) c.*1689T>A (n.*1689T>A) c.2242T>A (n.2242T>A) c.1862T>A (p.Met621Lys) c.1910T>A (p.Met637Lys) c.2006T>A (p.Met669Lys) c.1952T>A (p.Met651Lys) c.1913T>A (p.Met638Lys) | |
18 | g.33739434T>C | CA402177146 | ASXL3 | c.2033T>C (p.Met678Thr) c.2030T>C (p.Met677Thr) c.*1154T>C (n.*1154T>C) c.*1689T>C (n.*1689T>C) c.2242T>C (n.2242T>C) c.1862T>C (p.Met621Thr) c.1910T>C (p.Met637Thr) c.2006T>C (p.Met669Thr) c.1952T>C (p.Met651Thr) c.1913T>C (p.Met638Thr) | gnomAD v4 |
18 | g.33739434T>G | CA402177148 | ASXL3 | c.2033T>G (p.Met678Arg) c.2030T>G (p.Met677Arg) c.*1154T>G (n.*1154T>G) c.*1689T>G (n.*1689T>G) c.2242T>G (n.2242T>G) c.1862T>G (p.Met621Arg) c.1910T>G (p.Met637Arg) c.2006T>G (p.Met669Arg) c.1952T>G (p.Met651Arg) c.1913T>G (p.Met638Arg) | |
18 | g.33739435G>A | CA402177151 | ASXL3 | c.2034G>A (p.Met678Ile) c.2031G>A (p.Met677Ile) c.*1155G>A (n.*1155G>A) c.*1690G>A (n.*1690G>A) c.2243G>A (n.2243G>A) c.1863G>A (p.Met621Ile) c.1911G>A (p.Met637Ile) c.2007G>A (p.Met669Ile) c.1953G>A (p.Met651Ile) c.1914G>A (p.Met638Ile) | gnomAD v4 |
18 | g.33739435G>C | CA402177154 | ASXL3 | c.2034G>C (p.Met678Ile) c.2031G>C (p.Met677Ile) c.*1155G>C (n.*1155G>C) c.*1690G>C (n.*1690G>C) c.2243G>C (n.2243G>C) c.1863G>C (p.Met621Ile) c.1911G>C (p.Met637Ile) c.2007G>C (p.Met669Ile) c.1953G>C (p.Met651Ile) c.1914G>C (p.Met638Ile) | |
18 | g.33739435G>T | CA402177156 | ASXL3 | c.2034G>T (p.Met678Ile) c.2031G>T (p.Met677Ile) c.*1155G>T (n.*1155G>T) c.*1690G>T (n.*1690G>T) c.2243G>T (n.2243G>T) c.1863G>T (p.Met621Ile) c.1911G>T (p.Met637Ile) c.2007G>T (p.Met669Ile) c.1953G>T (p.Met651Ile) c.1914G>T (p.Met638Ile) | |
18 | g.33739436T>A | CA402177159 | ASXL3 | c.2035T>A (p.Ser679Thr) c.2032T>A (p.Ser678Thr) c.*1156T>A (n.*1156T>A) c.*1691T>A (n.*1691T>A) c.2244T>A (n.2244T>A) c.1864T>A (p.Ser622Thr) c.1912T>A (p.Ser638Thr) c.2008T>A (p.Ser670Thr) c.1954T>A (p.Ser652Thr) c.1915T>A (p.Ser639Thr) | |
18 | g.33739436T>C | CA402177161 | ASXL3 | c.2035T>C (p.Ser679Pro) c.2032T>C (p.Ser678Pro) c.*1156T>C (n.*1156T>C) c.*1691T>C (n.*1691T>C) c.2244T>C (n.2244T>C) c.1864T>C (p.Ser622Pro) c.1912T>C (p.Ser638Pro) c.2008T>C (p.Ser670Pro) c.1954T>C (p.Ser652Pro) c.1915T>C (p.Ser639Pro) | dbSNP |
18 | g.33739436T>G | CA402177164 | ASXL3 | c.2035T>G (p.Ser679Ala) c.2032T>G (p.Ser678Ala) c.*1156T>G (n.*1156T>G) c.*1691T>G (n.*1691T>G) c.2244T>G (n.2244T>G) c.1864T>G (p.Ser622Ala) c.1912T>G (p.Ser638Ala) c.2008T>G (p.Ser670Ala) c.1954T>G (p.Ser652Ala) c.1915T>G (p.Ser639Ala) | |
18 | g.33739436T= | CA2294855976 | ASXL3 | c.2035T= (p.Ser679=) c.2032T= (p.Ser678=) c.*1156T= (n.*1156T=) c.*1691T= (n.*1691T=) c.2244T= (n.2244T=) c.1864T= (p.Ser622=) c.1912T= (p.Ser638=) c.2008T= (p.Ser670=) c.1954T= (p.Ser652=) c.1915T= (p.Ser639=) | |
18 | g.33739437C>A | CA402177168 | ASXL3 | c.2036C>A (p.Ser679Ter) c.2033C>A (p.Ser678Ter) c.*1157C>A (n.*1157C>A) c.*1692C>A (n.*1692C>A) c.2245C>A (n.2245C>A) c.1865C>A (p.Ser622Ter) c.1913C>A (p.Ser638Ter) c.2009C>A (p.Ser670Ter) c.1955C>A (p.Ser652Ter) c.1916C>A (p.Ser639Ter) | |
18 | g.33739437C>G | CA402177170 | ASXL3 | c.2036C>G (p.Ser679Ter) c.2033C>G (p.Ser678Ter) c.*1157C>G (n.*1157C>G) c.*1692C>G (n.*1692C>G) c.2245C>G (n.2245C>G) c.1865C>G (p.Ser622Ter) c.1913C>G (p.Ser638Ter) c.2009C>G (p.Ser670Ter) c.1955C>G (p.Ser652Ter) c.1916C>G (p.Ser639Ter) | |
18 | g.33739437C>T | CA402177171 | ASXL3 | c.2036C>T (p.Ser679Leu) c.2033C>T (p.Ser678Leu) c.*1157C>T (n.*1157C>T) c.*1692C>T (n.*1692C>T) c.2245C>T (n.2245C>T) c.1865C>T (p.Ser622Leu) c.1913C>T (p.Ser638Leu) c.2009C>T (p.Ser670Leu) c.1955C>T (p.Ser652Leu) c.1916C>T (p.Ser639Leu) | gnomAD v4 |
18 | g.33739438A>C | CA503768809 | ASXL3 | c.2037A>C (p.Ser679=) c.2034A>C (p.Ser678=) c.*1158A>C (n.*1158A>C) c.*1693A>C (n.*1693A>C) c.2246A>C (n.2246A>C) c.1866A>C (p.Ser622=) c.1914A>C (p.Ser638=) c.2010A>C (p.Ser670=) c.1956A>C (p.Ser652=) c.1917A>C (p.Ser639=) | |
18 | g.33739438A>G | CA503768810 | ASXL3 | c.2037A>G (p.Ser679=) c.2034A>G (p.Ser678=) c.*1158A>G (n.*1158A>G) c.*1693A>G (n.*1693A>G) c.2246A>G (n.2246A>G) c.1866A>G (p.Ser622=) c.1914A>G (p.Ser638=) c.2010A>G (p.Ser670=) c.1956A>G (p.Ser652=) c.1917A>G (p.Ser639=) | |
18 | g.33739438A>T | CA503768813 | ASXL3 | c.2037A>T (p.Ser679=) c.2034A>T (p.Ser678=) c.*1158A>T (n.*1158A>T) c.*1693A>T (n.*1693A>T) c.2246A>T (n.2246A>T) c.1866A>T (p.Ser622=) c.1914A>T (p.Ser638=) c.2010A>T (p.Ser670=) c.1956A>T (p.Ser652=) c.1917A>T (p.Ser639=) | |
18 | g.33739439G>A | CA402177176 | ASXL3 | c.2038G>A (p.Glu680Lys) c.2035G>A (p.Glu679Lys) c.*1159G>A (n.*1159G>A) c.*1694G>A (n.*1694G>A) c.2247G>A (n.2247G>A) c.1867G>A (p.Glu623Lys) c.1915G>A (p.Glu639Lys) c.2011G>A (p.Glu671Lys) c.1957G>A (p.Glu653Lys) c.1918G>A (p.Glu640Lys) | |
18 | g.33739439G>C | CA8933858 | ASXL3 | c.2038G>C (p.Glu680Gln) c.2035G>C (p.Glu679Gln) c.*1159G>C (n.*1159G>C) c.*1694G>C (n.*1694G>C) c.2247G>C (n.2247G>C) c.1867G>C (p.Glu623Gln) c.1915G>C (p.Glu639Gln) c.2011G>C (p.Glu671Gln) c.1957G>C (p.Glu653Gln) c.1918G>C (p.Glu640Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739439G= | CA2294855977 | ASXL3 | c.2038G= (p.Glu680=) c.2035G= (p.Glu679=) c.*1159G= (n.*1159G=) c.*1694G= (n.*1694G=) c.2247G= (n.2247G=) c.1867G= (p.Glu623=) c.1915G= (p.Glu639=) c.2011G= (p.Glu671=) c.1957G= (p.Glu653=) c.1918G= (p.Glu640=) | |
18 | g.33739439G>T | CA402177174 | ASXL3 | c.2038G>T (p.Glu680Ter) c.2035G>T (p.Glu679Ter) c.*1159G>T (n.*1159G>T) c.*1694G>T (n.*1694G>T) c.2247G>T (n.2247G>T) c.1867G>T (p.Glu623Ter) c.1915G>T (p.Glu639Ter) c.2011G>T (p.Glu671Ter) c.1957G>T (p.Glu653Ter) c.1918G>T (p.Glu640Ter) | |
18 | g.33739440A>C | CA402177181 | ASXL3 | c.2039A>C (p.Glu680Ala) c.2036A>C (p.Glu679Ala) c.*1160A>C (n.*1160A>C) c.*1695A>C (n.*1695A>C) c.2248A>C (n.2248A>C) c.1868A>C (p.Glu623Ala) c.1916A>C (p.Glu639Ala) c.2012A>C (p.Glu671Ala) c.1958A>C (p.Glu653Ala) c.1919A>C (p.Glu640Ala) | |
18 | g.33739440A>G | CA402177183 | ASXL3 | c.2039A>G (p.Glu680Gly) c.2036A>G (p.Glu679Gly) c.*1160A>G (n.*1160A>G) c.*1695A>G (n.*1695A>G) c.2248A>G (n.2248A>G) c.1868A>G (p.Glu623Gly) c.1916A>G (p.Glu639Gly) c.2012A>G (p.Glu671Gly) c.1958A>G (p.Glu653Gly) c.1919A>G (p.Glu640Gly) | |
18 | g.33739440A>T | CA402177185 | ASXL3 | c.2039A>T (p.Glu680Val) c.2036A>T (p.Glu679Val) c.*1160A>T (n.*1160A>T) c.*1695A>T (n.*1695A>T) c.2248A>T (n.2248A>T) c.1868A>T (p.Glu623Val) c.1916A>T (p.Glu639Val) c.2012A>T (p.Glu671Val) c.1958A>T (p.Glu653Val) c.1919A>T (p.Glu640Val) | |
18 | g.33739440_33739449delinsAAATATCTCC | CA2294855978 | ASXL3 | c.2039_2048delinsAAATATCTCC (p.Glu680=) c.2036_2045delinsAAATATCTCC (p.Glu679=) c.*1160_*1169delinsAAATATCTCC (n.*1160_*1169delinsAAATATCTCC) c.*1695_*1704delinsAAATATCTCC (n.*1695_*1704delinsAAATATCTCC) c.2248_2257delinsAAATATCTCC (n.2248_2257delinsAAATATCTCC) c.1868_1877delinsAAATATCTCC (p.Glu623=) c.1916_1925delinsAAATATCTCC (p.Glu639=) c.2012_2021delinsAAATATCTCC (p.Glu671=) c.1958_1967delinsAAATATCTCC (p.Glu653=) c.1919_1928delinsAAATATCTCC (p.Glu640=) | |
18 | g.33739441A= | CA2294855979 | ASXL3 | c.2040A= (p.Glu680=) c.2037A= (p.Glu679=) c.*1161A= (n.*1161A=) c.*1696A= (n.*1696A=) c.2249A= (n.2249A=) c.1869A= (p.Glu623=) c.1917A= (p.Glu639=) c.2013A= (p.Glu671=) c.1959A= (p.Glu653=) c.1920A= (p.Glu640=) | |
18 | g.33739441A>C | CA402177188 | ASXL3 | c.2040A>C (p.Glu680Asp) c.2037A>C (p.Glu679Asp) c.*1161A>C (n.*1161A>C) c.*1696A>C (n.*1696A>C) c.2249A>C (n.2249A>C) c.1869A>C (p.Glu623Asp) c.1917A>C (p.Glu639Asp) c.2013A>C (p.Glu671Asp) c.1959A>C (p.Glu653Asp) c.1920A>C (p.Glu640Asp) | COSMIC COSMIC |
18 | g.33739441A>G | CA503768816 | ASXL3 | c.2040A>G (p.Glu680=) c.2037A>G (p.Glu679=) c.*1161A>G (n.*1161A>G) c.*1696A>G (n.*1696A>G) c.2249A>G (n.2249A>G) c.1869A>G (p.Glu623=) c.1917A>G (p.Glu639=) c.2013A>G (p.Glu671=) c.1959A>G (p.Glu653=) c.1920A>G (p.Glu640=) | |
18 | g.33739441A>T | CA402177190 | ASXL3 | c.2040A>T (p.Glu680Asp) c.2037A>T (p.Glu679Asp) c.*1161A>T (n.*1161A>T) c.*1696A>T (n.*1696A>T) c.2249A>T (n.2249A>T) c.1869A>T (p.Glu623Asp) c.1917A>T (p.Glu639Asp) c.2013A>T (p.Glu671Asp) c.1959A>T (p.Glu653Asp) c.1920A>T (p.Glu640Asp) | dbSNP |
18 | g.33739447_33739455del | CA8933859 | ASXL3 | c.2046_2054del (p.Pro683_Ser685del) c.2043_2051del (p.Pro682_Ser684del) c.*1167_*1175del (n.*1167_*1175del) c.*1702_*1710del (n.*1702_*1710del) c.2255_2263del (n.2255_2263del) c.1875_1883del (p.Pro626_Ser628del) c.1923_1931del (p.Pro642_Ser644del) c.2019_2027del (p.Pro674_Ser676del) c.1965_1973del (p.Pro656_Ser658del) c.1926_1934del (p.Pro643_Ser645del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739442A>C | CA402177195 | ASXL3 | c.2041A>C (p.Ile681Leu) c.2038A>C (p.Ile680Leu) c.*1162A>C (n.*1162A>C) c.*1697A>C (n.*1697A>C) c.2250A>C (n.2250A>C) c.1870A>C (p.Ile624Leu) c.1918A>C (p.Ile640Leu) c.2014A>C (p.Ile672Leu) c.1960A>C (p.Ile654Leu) c.1921A>C (p.Ile641Leu) | |
18 | g.33739442A>G | CA402177198 | ASXL3 | c.2041A>G (p.Ile681Val) c.2038A>G (p.Ile680Val) c.*1162A>G (n.*1162A>G) c.*1697A>G (n.*1697A>G) c.2250A>G (n.2250A>G) c.1870A>G (p.Ile624Val) c.1918A>G (p.Ile640Val) c.2014A>G (p.Ile672Val) c.1960A>G (p.Ile654Val) c.1921A>G (p.Ile641Val) | gnomAD v4 |
18 | g.33739442A>T | CA402177201 | ASXL3 | c.2041A>T (p.Ile681Leu) c.2038A>T (p.Ile680Leu) c.*1162A>T (n.*1162A>T) c.*1697A>T (n.*1697A>T) c.2250A>T (n.2250A>T) c.1870A>T (p.Ile624Leu) c.1918A>T (p.Ile640Leu) c.2014A>T (p.Ile672Leu) c.1960A>T (p.Ile654Leu) c.1921A>T (p.Ile641Leu) | |
18 | g.33739443T>A | CA402177204 | ASXL3 | c.2042T>A (p.Ile681Lys) c.2039T>A (p.Ile680Lys) c.*1163T>A (n.*1163T>A) c.*1698T>A (n.*1698T>A) c.2251T>A (n.2251T>A) c.1871T>A (p.Ile624Lys) c.1919T>A (p.Ile640Lys) c.2015T>A (p.Ile672Lys) c.1961T>A (p.Ile654Lys) c.1922T>A (p.Ile641Lys) | |
18 | g.33739443T>C | CA402177205 | ASXL3 | c.2042T>C (p.Ile681Thr) c.2039T>C (p.Ile680Thr) c.*1163T>C (n.*1163T>C) c.*1698T>C (n.*1698T>C) c.2251T>C (n.2251T>C) c.1871T>C (p.Ile624Thr) c.1919T>C (p.Ile640Thr) c.2015T>C (p.Ile672Thr) c.1961T>C (p.Ile654Thr) c.1922T>C (p.Ile641Thr) | |
18 | g.33739443T>G | CA402177208 | ASXL3 | c.2042T>G (p.Ile681Arg) c.2039T>G (p.Ile680Arg) c.*1163T>G (n.*1163T>G) c.*1698T>G (n.*1698T>G) c.2251T>G (n.2251T>G) c.1871T>G (p.Ile624Arg) c.1919T>G (p.Ile640Arg) c.2015T>G (p.Ile672Arg) c.1961T>G (p.Ile654Arg) c.1922T>G (p.Ile641Arg) | |
18 | g.33739444A= | CA2294855980 | ASXL3 | c.2043A= (p.Ile681=) c.2040A= (p.Ile680=) c.*1164A= (n.*1164A=) c.*1699A= (n.*1699A=) c.2252A= (n.2252A=) c.1872A= (p.Ile624=) c.1920A= (p.Ile640=) c.2016A= (p.Ile672=) c.1962A= (p.Ile654=) c.1923A= (p.Ile641=) | |
18 | g.33739444A>C | CA503768820 | ASXL3 | c.2043A>C (p.Ile681=) c.2040A>C (p.Ile680=) c.*1164A>C (n.*1164A>C) c.*1699A>C (n.*1699A>C) c.2252A>C (n.2252A>C) c.1872A>C (p.Ile624=) c.1920A>C (p.Ile640=) c.2016A>C (p.Ile672=) c.1962A>C (p.Ile654=) c.1923A>C (p.Ile641=) | |
18 | g.33739444A>G | CA402177210 | ASXL3 | c.2043A>G (p.Ile681Met) c.2040A>G (p.Ile680Met) c.*1164A>G (n.*1164A>G) c.*1699A>G (n.*1699A>G) c.2252A>G (n.2252A>G) c.1872A>G (p.Ile624Met) c.1920A>G (p.Ile640Met) c.2016A>G (p.Ile672Met) c.1962A>G (p.Ile654Met) c.1923A>G (p.Ile641Met) | gnomAD v4 |
18 | g.33739444A>T | CA503768825 | ASXL3 | c.2043A>T (p.Ile681=) c.2040A>T (p.Ile680=) c.*1164A>T (n.*1164A>T) c.*1699A>T (n.*1699A>T) c.2252A>T (n.2252A>T) c.1872A>T (p.Ile624=) c.1920A>T (p.Ile640=) c.2016A>T (p.Ile672=) c.1962A>T (p.Ile654=) c.1923A>T (p.Ile641=) | dbSNP |
18 | g.33739445T>A | CA402177218 | ASXL3 | c.2044T>A (p.Ser682Thr) c.2041T>A (p.Ser681Thr) c.*1165T>A (n.*1165T>A) c.*1700T>A (n.*1700T>A) c.2253T>A (n.2253T>A) c.1873T>A (p.Ser625Thr) c.1921T>A (p.Ser641Thr) c.2017T>A (p.Ser673Thr) c.1963T>A (p.Ser655Thr) c.1924T>A (p.Ser642Thr) | |
18 | g.33739445T>C | CA8933860 | ASXL3 | c.2044T>C (p.Ser682Pro) c.2041T>C (p.Ser681Pro) c.*1165T>C (n.*1165T>C) c.*1700T>C (n.*1700T>C) c.2253T>C (n.2253T>C) c.1873T>C (p.Ser625Pro) c.1921T>C (p.Ser641Pro) c.2017T>C (p.Ser673Pro) c.1963T>C (p.Ser655Pro) c.1924T>C (p.Ser642Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739445T>G | CA402177214 | ASXL3 | c.2044T>G (p.Ser682Ala) c.2041T>G (p.Ser681Ala) c.*1165T>G (n.*1165T>G) c.*1700T>G (n.*1700T>G) c.2253T>G (n.2253T>G) c.1873T>G (p.Ser625Ala) c.1921T>G (p.Ser641Ala) c.2017T>G (p.Ser673Ala) c.1963T>G (p.Ser655Ala) c.1924T>G (p.Ser642Ala) | gnomAD v4 |
18 | g.33739445T= | CA2294855981 | ASXL3 | c.2044T= (p.Ser682=) c.2041T= (p.Ser681=) c.*1165T= (n.*1165T=) c.*1700T= (n.*1700T=) c.2253T= (n.2253T=) c.1873T= (p.Ser625=) c.1921T= (p.Ser641=) c.2017T= (p.Ser673=) c.1963T= (p.Ser655=) c.1924T= (p.Ser642=) | |
18 | g.33739446C>A | CA402177221 | ASXL3 | c.2045C>A (p.Ser682Tyr) c.2042C>A (p.Ser681Tyr) c.*1166C>A (n.*1166C>A) c.*1701C>A (n.*1701C>A) c.2254C>A (n.2254C>A) c.1874C>A (p.Ser625Tyr) c.1922C>A (p.Ser641Tyr) c.2018C>A (p.Ser673Tyr) c.1964C>A (p.Ser655Tyr) c.1925C>A (p.Ser642Tyr) | |
18 | g.33739446C= | CA2294855982 | ASXL3 | c.2045C= (p.Ser682=) c.2042C= (p.Ser681=) c.*1166C= (n.*1166C=) c.*1701C= (n.*1701C=) c.2254C= (n.2254C=) c.1874C= (p.Ser625=) c.1922C= (p.Ser641=) c.2018C= (p.Ser673=) c.1964C= (p.Ser655=) c.1925C= (p.Ser642=) | |
18 | g.33739446C>G | CA402177222 | ASXL3 | c.2045C>G (p.Ser682Cys) c.2042C>G (p.Ser681Cys) c.*1166C>G (n.*1166C>G) c.*1701C>G (n.*1701C>G) c.2254C>G (n.2254C>G) c.1874C>G (p.Ser625Cys) c.1922C>G (p.Ser641Cys) c.2018C>G (p.Ser673Cys) c.1964C>G (p.Ser655Cys) c.1925C>G (p.Ser642Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739446C>T | CA402177225 | ASXL3 | c.2045C>T (p.Ser682Phe) c.2042C>T (p.Ser681Phe) c.*1166C>T (n.*1166C>T) c.*1701C>T (n.*1701C>T) c.2254C>T (n.2254C>T) c.1874C>T (p.Ser625Phe) c.1922C>T (p.Ser641Phe) c.2018C>T (p.Ser673Phe) c.1964C>T (p.Ser655Phe) c.1925C>T (p.Ser642Phe) | |
18 | g.33739447T>A | CA503768832 | ASXL3 | c.2046T>A (p.Ser682=) c.2043T>A (p.Ser681=) c.*1167T>A (n.*1167T>A) c.*1702T>A (n.*1702T>A) c.2255T>A (n.2255T>A) c.1875T>A (p.Ser625=) c.1923T>A (p.Ser641=) c.2019T>A (p.Ser673=) c.1965T>A (p.Ser655=) c.1926T>A (p.Ser642=) | gnomAD v4 |
18 | g.33739447T>C | CA503768830 | ASXL3 | c.2046T>C (p.Ser682=) c.2043T>C (p.Ser681=) c.*1167T>C (n.*1167T>C) c.*1702T>C (n.*1702T>C) c.2255T>C (n.2255T>C) c.1875T>C (p.Ser625=) c.1923T>C (p.Ser641=) c.2019T>C (p.Ser673=) c.1965T>C (p.Ser655=) c.1926T>C (p.Ser642=) | |
18 | g.33739447T>G | CA503768828 | ASXL3 | c.2046T>G (p.Ser682=) c.2043T>G (p.Ser681=) c.*1167T>G (n.*1167T>G) c.*1702T>G (n.*1702T>G) c.2255T>G (n.2255T>G) c.1875T>G (p.Ser625=) c.1923T>G (p.Ser641=) c.2019T>G (p.Ser673=) c.1965T>G (p.Ser655=) c.1926T>G (p.Ser642=) | |
18 | g.33739447_33739448insGACAT | CA2294855983 | ASXL3 | c.2046_2047insGACAT (p.Pro683AspfsTer21) c.2043_2044insGACAT (p.Pro682AspfsTer21) c.*1167_*1168insGACAT (n.*1167_*1168insGACAT) c.*1702_*1703insGACAT (n.*1702_*1703insGACAT) c.2255_2256insGACAT (n.2255_2256insGACAT) c.1875_1876insGACAT (p.Pro626AspfsTer21) c.1923_1924insGACAT (p.Pro642AspfsTer21) c.2019_2020insGACAT (p.Pro674AspfsTer21) c.1965_1966insGACAT (p.Pro656AspfsTer21) c.1926_1927insGACAT (p.Pro643AspfsTer21) | dbSNP |
18 | g.33739448C>A | CA402177228 | ASXL3 | c.2047C>A (p.Pro683Thr) c.2044C>A (p.Pro682Thr) c.*1168C>A (n.*1168C>A) c.*1703C>A (n.*1703C>A) c.2256C>A (n.2256C>A) c.1876C>A (p.Pro626Thr) c.1924C>A (p.Pro642Thr) c.2020C>A (p.Pro674Thr) c.1966C>A (p.Pro656Thr) c.1927C>A (p.Pro643Thr) | |
18 | g.33739448C= | CA2294855984 | ASXL3 | c.2047C= (p.Pro683=) c.2044C= (p.Pro682=) c.*1168C= (n.*1168C=) c.*1703C= (n.*1703C=) c.2256C= (n.2256C=) c.1876C= (p.Pro626=) c.1924C= (p.Pro642=) c.2020C= (p.Pro674=) c.1966C= (p.Pro656=) c.1927C= (p.Pro643=) | |
18 | g.33739448C>G | CA402177230 | ASXL3 | c.2047C>G (p.Pro683Ala) c.2044C>G (p.Pro682Ala) c.*1168C>G (n.*1168C>G) c.*1703C>G (n.*1703C>G) c.2256C>G (n.2256C>G) c.1876C>G (p.Pro626Ala) c.1924C>G (p.Pro642Ala) c.2020C>G (p.Pro674Ala) c.1966C>G (p.Pro656Ala) c.1927C>G (p.Pro643Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739448C>T | CA402177233 | ASXL3 | c.2047C>T (p.Pro683Ser) c.2044C>T (p.Pro682Ser) c.*1168C>T (n.*1168C>T) c.*1703C>T (n.*1703C>T) c.2256C>T (n.2256C>T) c.1876C>T (p.Pro626Ser) c.1924C>T (p.Pro642Ser) c.2020C>T (p.Pro674Ser) c.1966C>T (p.Pro656Ser) c.1927C>T (p.Pro643Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |