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.33739249_33739251delinsTGA | CA2294855885 | ASXL3 | c.1848_1850delinsTGA (p.Ser616=) c.1845_1847delinsTGA (p.Ser615=) c.*969_*971delinsTGA (n.*969_*971delinsTGA) c.*1504_*1506delinsTGA (n.*1504_*1506delinsTGA) c.2057_2059delinsTGA (n.2057_2059delinsTGA) c.1677_1679delinsTGA (p.Ser559=) c.1725_1727delinsTGA (p.Ser575=) c.1821_1823delinsTGA (p.Ser607=) c.1767_1769delinsTGA (p.Ser589=) c.1728_1730delinsTGA (p.Ser576=) | |
18 | g.33739253_33739254del | CA658795129 | ASXL3 | c.1852_1853del (p.Ser618ProfsTer29) c.1849_1850del (p.Ser617ProfsTer29) c.*973_*974del (n.*973_*974del) c.*1508_*1509del (n.*1508_*1509del) c.2061_2062del (n.2061_2062del) c.1681_1682del (p.Ser561ProfsTer29) c.1729_1730del (p.Ser577ProfsTer29) c.1825_1826del (p.Ser609ProfsTer29) c.1771_1772del (p.Ser591ProfsTer29) c.1732_1733del (p.Ser578ProfsTer29) | ClinVar dbSNP |
18 | g.33739251A>C | CA402176549 | ASXL3 | c.1850A>C (p.Glu617Ala) c.1847A>C (p.Glu616Ala) c.*971A>C (n.*971A>C) c.*1506A>C (n.*1506A>C) c.2059A>C (n.2059A>C) c.1679A>C (p.Glu560Ala) c.1727A>C (p.Glu576Ala) c.1823A>C (p.Glu608Ala) c.1769A>C (p.Glu590Ala) c.1730A>C (p.Glu577Ala) | |
18 | g.33739251A>G | CA402176551 | ASXL3 | c.1850A>G (p.Glu617Gly) c.1847A>G (p.Glu616Gly) c.*971A>G (n.*971A>G) c.*1506A>G (n.*1506A>G) c.2059A>G (n.2059A>G) c.1679A>G (p.Glu560Gly) c.1727A>G (p.Glu576Gly) c.1823A>G (p.Glu608Gly) c.1769A>G (p.Glu590Gly) c.1730A>G (p.Glu577Gly) | |
18 | g.33739251A>T | CA402176554 | ASXL3 | c.1850A>T (p.Glu617Val) c.1847A>T (p.Glu616Val) c.*971A>T (n.*971A>T) c.*1506A>T (n.*1506A>T) c.2059A>T (n.2059A>T) c.1679A>T (p.Glu560Val) c.1727A>T (p.Glu576Val) c.1823A>T (p.Glu608Val) c.1769A>T (p.Glu590Val) c.1730A>T (p.Glu577Val) | |
18 | g.33739252G>A | CA503768836 | ASXL3 | c.1851G>A (p.Glu617=) c.1848G>A (p.Glu616=) c.*972G>A (n.*972G>A) c.*1507G>A (n.*1507G>A) c.2060G>A (n.2060G>A) c.1680G>A (p.Glu560=) c.1728G>A (p.Glu576=) c.1824G>A (p.Glu608=) c.1770G>A (p.Glu590=) c.1731G>A (p.Glu577=) | |
18 | g.33739252G>C | CA402176558 | ASXL3 | c.1851G>C (p.Glu617Asp) c.1848G>C (p.Glu616Asp) c.*972G>C (n.*972G>C) c.*1507G>C (n.*1507G>C) c.2060G>C (n.2060G>C) c.1680G>C (p.Glu560Asp) c.1728G>C (p.Glu576Asp) c.1824G>C (p.Glu608Asp) c.1770G>C (p.Glu590Asp) c.1731G>C (p.Glu577Asp) | |
18 | g.33739252G>T | CA402176557 | ASXL3 | c.1851G>T (p.Glu617Asp) c.1848G>T (p.Glu616Asp) c.*972G>T (n.*972G>T) c.*1507G>T (n.*1507G>T) c.2060G>T (n.2060G>T) c.1680G>T (p.Glu560Asp) c.1728G>T (p.Glu576Asp) c.1824G>T (p.Glu608Asp) c.1770G>T (p.Glu590Asp) c.1731G>T (p.Glu577Asp) | |
18 | g.33739253A>C | CA402176561 | ASXL3 | c.1852A>C (p.Ser618Arg) c.1849A>C (p.Ser617Arg) c.*973A>C (n.*973A>C) c.*1508A>C (n.*1508A>C) c.2061A>C (n.2061A>C) c.1681A>C (p.Ser561Arg) c.1729A>C (p.Ser577Arg) c.1825A>C (p.Ser609Arg) c.1771A>C (p.Ser591Arg) c.1732A>C (p.Ser578Arg) | |
18 | g.33739253A>G | CA402176563 | ASXL3 | c.1852A>G (p.Ser618Gly) c.1849A>G (p.Ser617Gly) c.*973A>G (n.*973A>G) c.*1508A>G (n.*1508A>G) c.2061A>G (n.2061A>G) c.1681A>G (p.Ser561Gly) c.1729A>G (p.Ser577Gly) c.1825A>G (p.Ser609Gly) c.1771A>G (p.Ser591Gly) c.1732A>G (p.Ser578Gly) | |
18 | g.33739253A>T | CA402176565 | ASXL3 | c.1852A>T (p.Ser618Cys) c.1849A>T (p.Ser617Cys) c.*973A>T (n.*973A>T) c.*1508A>T (n.*1508A>T) c.2061A>T (n.2061A>T) c.1681A>T (p.Ser561Cys) c.1729A>T (p.Ser577Cys) c.1825A>T (p.Ser609Cys) c.1771A>T (p.Ser591Cys) c.1732A>T (p.Ser578Cys) | |
18 | g.33739254G>A | CA402176569 | ASXL3 | c.1853G>A (p.Ser618Asn) c.1850G>A (p.Ser617Asn) c.*974G>A (n.*974G>A) c.*1509G>A (n.*1509G>A) c.2062G>A (n.2062G>A) c.1682G>A (p.Ser561Asn) c.1730G>A (p.Ser577Asn) c.1826G>A (p.Ser609Asn) c.1772G>A (p.Ser591Asn) c.1733G>A (p.Ser578Asn) | gnomAD v4 |
18 | g.33739254G>C | CA402176571 | ASXL3 | c.1853G>C (p.Ser618Thr) c.1850G>C (p.Ser617Thr) c.*974G>C (n.*974G>C) c.*1509G>C (n.*1509G>C) c.2062G>C (n.2062G>C) c.1682G>C (p.Ser561Thr) c.1730G>C (p.Ser577Thr) c.1826G>C (p.Ser609Thr) c.1772G>C (p.Ser591Thr) c.1733G>C (p.Ser578Thr) | gnomAD v4 |
18 | g.33739254G= | CA2294855887 | ASXL3 | c.1853G= (p.Ser618=) c.1850G= (p.Ser617=) c.*974G= (n.*974G=) c.*1509G= (n.*1509G=) c.2062G= (n.2062G=) c.1682G= (p.Ser561=) c.1730G= (p.Ser577=) c.1826G= (p.Ser609=) c.1772G= (p.Ser591=) c.1733G= (p.Ser578=) | |
18 | g.33739254G>T | CA402176573 | ASXL3 | c.1853G>T (p.Ser618Ile) c.1850G>T (p.Ser617Ile) c.*974G>T (n.*974G>T) c.*1509G>T (n.*1509G>T) c.2062G>T (n.2062G>T) c.1682G>T (p.Ser561Ile) c.1730G>T (p.Ser577Ile) c.1826G>T (p.Ser609Ile) c.1772G>T (p.Ser591Ile) c.1733G>T (p.Ser578Ile) | dbSNP |
18 | g.33739255C>A | CA402176579 | ASXL3 | c.1854C>A (p.Ser618Arg) c.1851C>A (p.Ser617Arg) c.*975C>A (n.*975C>A) c.*1510C>A (n.*1510C>A) c.2063C>A (n.2063C>A) c.1683C>A (p.Ser561Arg) c.1731C>A (p.Ser577Arg) c.1827C>A (p.Ser609Arg) c.1773C>A (p.Ser591Arg) c.1734C>A (p.Ser578Arg) | |
18 | g.33739255C>G | CA402176577 | ASXL3 | c.1854C>G (p.Ser618Arg) c.1851C>G (p.Ser617Arg) c.*975C>G (n.*975C>G) c.*1510C>G (n.*1510C>G) c.2063C>G (n.2063C>G) c.1683C>G (p.Ser561Arg) c.1731C>G (p.Ser577Arg) c.1827C>G (p.Ser609Arg) c.1773C>G (p.Ser591Arg) c.1734C>G (p.Ser578Arg) | |
18 | g.33739255C>T | CA503768841 | ASXL3 | c.1854C>T (p.Ser618=) c.1851C>T (p.Ser617=) c.*975C>T (n.*975C>T) c.*1510C>T (n.*1510C>T) c.2063C>T (n.2063C>T) c.1683C>T (p.Ser561=) c.1731C>T (p.Ser577=) c.1827C>T (p.Ser609=) c.1773C>T (p.Ser591=) c.1734C>T (p.Ser578=) | |
18 | g.33739256C>A | CA402176581 | ASXL3 | c.1855C>A (p.Pro619Thr) c.1852C>A (p.Pro618Thr) c.*976C>A (n.*976C>A) c.*1511C>A (n.*1511C>A) c.2064C>A (n.2064C>A) c.1684C>A (p.Pro562Thr) c.1732C>A (p.Pro578Thr) c.1828C>A (p.Pro610Thr) c.1774C>A (p.Pro592Thr) c.1735C>A (p.Pro579Thr) | |
18 | g.33739256C>G | CA402176584 | ASXL3 | c.1855C>G (p.Pro619Ala) c.1852C>G (p.Pro618Ala) c.*976C>G (n.*976C>G) c.*1511C>G (n.*1511C>G) c.2064C>G (n.2064C>G) c.1684C>G (p.Pro562Ala) c.1732C>G (p.Pro578Ala) c.1828C>G (p.Pro610Ala) c.1774C>G (p.Pro592Ala) c.1735C>G (p.Pro579Ala) | |
18 | g.33739256C>T | CA402176586 | ASXL3 | c.1855C>T (p.Pro619Ser) c.1852C>T (p.Pro618Ser) c.*976C>T (n.*976C>T) c.*1511C>T (n.*1511C>T) c.2064C>T (n.2064C>T) c.1684C>T (p.Pro562Ser) c.1732C>T (p.Pro578Ser) c.1828C>T (p.Pro610Ser) c.1774C>T (p.Pro592Ser) c.1735C>T (p.Pro579Ser) | |
18 | g.33739257C>A | CA402176588 | ASXL3 | c.1856C>A (p.Pro619Gln) c.1853C>A (p.Pro618Gln) c.*977C>A (n.*977C>A) c.*1512C>A (n.*1512C>A) c.2065C>A (n.2065C>A) c.1685C>A (p.Pro562Gln) c.1733C>A (p.Pro578Gln) c.1829C>A (p.Pro610Gln) c.1775C>A (p.Pro592Gln) c.1736C>A (p.Pro579Gln) | dbSNP |
18 | g.33739257C= | CA2294855888 | ASXL3 | c.1856C= (p.Pro619=) c.1853C= (p.Pro618=) c.*977C= (n.*977C=) c.*1512C= (n.*1512C=) c.2065C= (n.2065C=) c.1685C= (p.Pro562=) c.1733C= (p.Pro578=) c.1829C= (p.Pro610=) c.1775C= (p.Pro592=) c.1736C= (p.Pro579=) | |
18 | g.33739257C>G | CA402176591 | ASXL3 | c.1856C>G (p.Pro619Arg) c.1853C>G (p.Pro618Arg) c.*977C>G (n.*977C>G) c.*1512C>G (n.*1512C>G) c.2065C>G (n.2065C>G) c.1685C>G (p.Pro562Arg) c.1733C>G (p.Pro578Arg) c.1829C>G (p.Pro610Arg) c.1775C>G (p.Pro592Arg) c.1736C>G (p.Pro579Arg) | |
18 | g.33739257C>T | CA402176593 | ASXL3 | c.1856C>T (p.Pro619Leu) c.1853C>T (p.Pro618Leu) c.*977C>T (n.*977C>T) c.*1512C>T (n.*1512C>T) c.2065C>T (n.2065C>T) c.1685C>T (p.Pro562Leu) c.1733C>T (p.Pro578Leu) c.1829C>T (p.Pro610Leu) c.1775C>T (p.Pro592Leu) c.1736C>T (p.Pro579Leu) | ClinVar gnomAD v4 |
18 | g.33739258A= | CA2294855889 | ASXL3 | c.1857A= (p.Pro619=) c.1854A= (p.Pro618=) c.*978A= (n.*978A=) c.*1513A= (n.*1513A=) c.2066A= (n.2066A=) c.1686A= (p.Pro562=) c.1734A= (p.Pro578=) c.1830A= (p.Pro610=) c.1776A= (p.Pro592=) c.1737A= (p.Pro579=) | |
18 | g.33739258A>C | CA503768846 | ASXL3 | c.1857A>C (p.Pro619=) c.1854A>C (p.Pro618=) c.*978A>C (n.*978A>C) c.*1513A>C (n.*1513A>C) c.2066A>C (n.2066A>C) c.1686A>C (p.Pro562=) c.1734A>C (p.Pro578=) c.1830A>C (p.Pro610=) c.1776A>C (p.Pro592=) c.1737A>C (p.Pro579=) | |
18 | g.33739258A>G | CA503768847 | ASXL3 | c.1857A>G (p.Pro619=) c.1854A>G (p.Pro618=) c.*978A>G (n.*978A>G) c.*1513A>G (n.*1513A>G) c.2066A>G (n.2066A>G) c.1686A>G (p.Pro562=) c.1734A>G (p.Pro578=) c.1830A>G (p.Pro610=) c.1776A>G (p.Pro592=) c.1737A>G (p.Pro579=) | |
18 | g.33739258A>T | CA503768848 | ASXL3 | c.1857A>T (p.Pro619=) c.1854A>T (p.Pro618=) c.*978A>T (n.*978A>T) c.*1513A>T (n.*1513A>T) c.2066A>T (n.2066A>T) c.1686A>T (p.Pro562=) c.1734A>T (p.Pro578=) c.1830A>T (p.Pro610=) c.1776A>T (p.Pro592=) c.1737A>T (p.Pro579=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739259G>A | CA8933821 | ASXL3 | c.1858G>A (p.Glu620Lys) c.1855G>A (p.Glu619Lys) c.*979G>A (n.*979G>A) c.*1514G>A (n.*1514G>A) c.2067G>A (n.2067G>A) c.1687G>A (p.Glu563Lys) c.1735G>A (p.Glu579Lys) c.1831G>A (p.Glu611Lys) c.1777G>A (p.Glu593Lys) c.1738G>A (p.Glu580Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739259G>C | CA402176600 | ASXL3 | c.1858G>C (p.Glu620Gln) c.1855G>C (p.Glu619Gln) c.*979G>C (n.*979G>C) c.*1514G>C (n.*1514G>C) c.2067G>C (n.2067G>C) c.1687G>C (p.Glu563Gln) c.1735G>C (p.Glu579Gln) c.1831G>C (p.Glu611Gln) c.1777G>C (p.Glu593Gln) c.1738G>C (p.Glu580Gln) | |
18 | g.33739259G= | CA2294855890 | ASXL3 | c.1858G= (p.Glu620=) c.1855G= (p.Glu619=) c.*979G= (n.*979G=) c.*1514G= (n.*1514G=) c.2067G= (n.2067G=) c.1687G= (p.Glu563=) c.1735G= (p.Glu579=) c.1831G= (p.Glu611=) c.1777G= (p.Glu593=) c.1738G= (p.Glu580=) | |
18 | g.33739259G>T | CA402176598 | ASXL3 | c.1858G>T (p.Glu620Ter) c.1855G>T (p.Glu619Ter) c.*979G>T (n.*979G>T) c.*1514G>T (n.*1514G>T) c.2067G>T (n.2067G>T) c.1687G>T (p.Glu563Ter) c.1735G>T (p.Glu579Ter) c.1831G>T (p.Glu611Ter) c.1777G>T (p.Glu593Ter) c.1738G>T (p.Glu580Ter) | |
18 | g.33739260A>C | CA402176603 | ASXL3 | c.1859A>C (p.Glu620Ala) c.1856A>C (p.Glu619Ala) c.*980A>C (n.*980A>C) c.*1515A>C (n.*1515A>C) c.2068A>C (n.2068A>C) c.1688A>C (p.Glu563Ala) c.1736A>C (p.Glu579Ala) c.1832A>C (p.Glu611Ala) c.1778A>C (p.Glu593Ala) c.1739A>C (p.Glu580Ala) | |
18 | g.33739260A>G | CA402176605 | ASXL3 | c.1859A>G (p.Glu620Gly) c.1856A>G (p.Glu619Gly) c.*980A>G (n.*980A>G) c.*1515A>G (n.*1515A>G) c.2068A>G (n.2068A>G) c.1688A>G (p.Glu563Gly) c.1736A>G (p.Glu579Gly) c.1832A>G (p.Glu611Gly) c.1778A>G (p.Glu593Gly) c.1739A>G (p.Glu580Gly) | |
18 | g.33739260A>T | CA402176607 | ASXL3 | c.1859A>T (p.Glu620Val) c.1856A>T (p.Glu619Val) c.*980A>T (n.*980A>T) c.*1515A>T (n.*1515A>T) c.2068A>T (n.2068A>T) c.1688A>T (p.Glu563Val) c.1736A>T (p.Glu579Val) c.1832A>T (p.Glu611Val) c.1778A>T (p.Glu593Val) c.1739A>T (p.Glu580Val) | |
18 | g.33739261G>A | CA503768854 | ASXL3 | c.1860G>A (p.Glu620=) c.1857G>A (p.Glu619=) c.*981G>A (n.*981G>A) c.*1516G>A (n.*1516G>A) c.2069G>A (n.2069G>A) c.1689G>A (p.Glu563=) c.1737G>A (p.Glu579=) c.1833G>A (p.Glu611=) c.1779G>A (p.Glu593=) c.1740G>A (p.Glu580=) | |
18 | g.33739261G>C | CA8933822 | ASXL3 | c.1860G>C (p.Glu620Asp) c.1857G>C (p.Glu619Asp) c.*981G>C (n.*981G>C) c.*1516G>C (n.*1516G>C) c.2069G>C (n.2069G>C) c.1689G>C (p.Glu563Asp) c.1737G>C (p.Glu579Asp) c.1833G>C (p.Glu611Asp) c.1779G>C (p.Glu593Asp) c.1740G>C (p.Glu580Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739261G= | CA2294855891 | ASXL3 | c.1860G= (p.Glu620=) c.1857G= (p.Glu619=) c.*981G= (n.*981G=) c.*1516G= (n.*1516G=) c.2069G= (n.2069G=) c.1689G= (p.Glu563=) c.1737G= (p.Glu579=) c.1833G= (p.Glu611=) c.1779G= (p.Glu593=) c.1740G= (p.Glu580=) | |
18 | g.33739261G>T | CA402176609 | ASXL3 | c.1860G>T (p.Glu620Asp) c.1857G>T (p.Glu619Asp) c.*981G>T (n.*981G>T) c.*1516G>T (n.*1516G>T) c.2069G>T (n.2069G>T) c.1689G>T (p.Glu563Asp) c.1737G>T (p.Glu579Asp) c.1833G>T (p.Glu611Asp) c.1779G>T (p.Glu593Asp) c.1740G>T (p.Glu580Asp) | |
18 | g.33739262G>A | CA402176611 | ASXL3 | c.1861G>A (p.Gly621Arg) c.1858G>A (p.Gly620Arg) c.*982G>A (n.*982G>A) c.*1517G>A (n.*1517G>A) c.2070G>A (n.2070G>A) c.1690G>A (p.Gly564Arg) c.1738G>A (p.Gly580Arg) c.1834G>A (p.Gly612Arg) c.1780G>A (p.Gly594Arg) c.1741G>A (p.Gly581Arg) | |
18 | g.33739262G>C | CA402176613 | ASXL3 | c.1861G>C (p.Gly621Arg) c.1858G>C (p.Gly620Arg) c.*982G>C (n.*982G>C) c.*1517G>C (n.*1517G>C) c.2070G>C (n.2070G>C) c.1690G>C (p.Gly564Arg) c.1738G>C (p.Gly580Arg) c.1834G>C (p.Gly612Arg) c.1780G>C (p.Gly594Arg) c.1741G>C (p.Gly581Arg) | |
18 | g.33739262G>T | CA402176619 | ASXL3 | c.1861G>T (p.Gly621Ter) c.1858G>T (p.Gly620Ter) c.*982G>T (n.*982G>T) c.*1517G>T (n.*1517G>T) c.2070G>T (n.2070G>T) c.1690G>T (p.Gly564Ter) c.1738G>T (p.Gly580Ter) c.1834G>T (p.Gly612Ter) c.1780G>T (p.Gly594Ter) c.1741G>T (p.Gly581Ter) | |
18 | g.33739263G>A | CA402176623 | ASXL3 | c.1862G>A (p.Gly621Glu) c.1859G>A (p.Gly620Glu) c.*983G>A (n.*983G>A) c.*1518G>A (n.*1518G>A) c.2071G>A (n.2071G>A) c.1691G>A (p.Gly564Glu) c.1739G>A (p.Gly580Glu) c.1835G>A (p.Gly612Glu) c.1781G>A (p.Gly594Glu) c.1742G>A (p.Gly581Glu) | gnomAD v4 COSMIC COSMIC |
18 | g.33739263G>C | CA402176626 | ASXL3 | c.1862G>C (p.Gly621Ala) c.1859G>C (p.Gly620Ala) c.*983G>C (n.*983G>C) c.*1518G>C (n.*1518G>C) c.2071G>C (n.2071G>C) c.1691G>C (p.Gly564Ala) c.1739G>C (p.Gly580Ala) c.1835G>C (p.Gly612Ala) c.1781G>C (p.Gly594Ala) c.1742G>C (p.Gly581Ala) | |
18 | g.33739263G>T | CA402176628 | ASXL3 | c.1862G>T (p.Gly621Val) c.1859G>T (p.Gly620Val) c.*983G>T (n.*983G>T) c.*1518G>T (n.*1518G>T) c.2071G>T (n.2071G>T) c.1691G>T (p.Gly564Val) c.1739G>T (p.Gly580Val) c.1835G>T (p.Gly612Val) c.1781G>T (p.Gly594Val) c.1742G>T (p.Gly581Val) | |
18 | g.33739264A>C | CA503768856 | ASXL3 | c.1863A>C (p.Gly621=) c.1860A>C (p.Gly620=) c.*984A>C (n.*984A>C) c.*1519A>C (n.*1519A>C) c.2072A>C (n.2072A>C) c.1692A>C (p.Gly564=) c.1740A>C (p.Gly580=) c.1836A>C (p.Gly612=) c.1782A>C (p.Gly594=) c.1743A>C (p.Gly581=) | |
18 | g.33739264A>G | CA503768857 | ASXL3 | c.1863A>G (p.Gly621=) c.1860A>G (p.Gly620=) c.*984A>G (n.*984A>G) c.*1519A>G (n.*1519A>G) c.2072A>G (n.2072A>G) c.1692A>G (p.Gly564=) c.1740A>G (p.Gly580=) c.1836A>G (p.Gly612=) c.1782A>G (p.Gly594=) c.1743A>G (p.Gly581=) | |
18 | g.33739264A>T | CA503768858 | ASXL3 | c.1863A>T (p.Gly621=) c.1860A>T (p.Gly620=) c.*984A>T (n.*984A>T) c.*1519A>T (n.*1519A>T) c.2072A>T (n.2072A>T) c.1692A>T (p.Gly564=) c.1740A>T (p.Gly580=) c.1836A>T (p.Gly612=) c.1782A>T (p.Gly594=) c.1743A>T (p.Gly581=) | |
18 | g.33739265G>A | CA402176632 | ASXL3 | c.1864G>A (p.Ala622Thr) c.1861G>A (p.Ala621Thr) c.*985G>A (n.*985G>A) c.*1520G>A (n.*1520G>A) c.2073G>A (n.2073G>A) c.1693G>A (p.Ala565Thr) c.1741G>A (p.Ala581Thr) c.1837G>A (p.Ala613Thr) c.1783G>A (p.Ala595Thr) c.1744G>A (p.Ala582Thr) | |
18 | g.33739265G>C | CA402176630 | ASXL3 | c.1864G>C (p.Ala622Pro) c.1861G>C (p.Ala621Pro) c.*985G>C (n.*985G>C) c.*1520G>C (n.*1520G>C) c.2073G>C (n.2073G>C) c.1693G>C (p.Ala565Pro) c.1741G>C (p.Ala581Pro) c.1837G>C (p.Ala613Pro) c.1783G>C (p.Ala595Pro) c.1744G>C (p.Ala582Pro) | |
18 | g.33739265G>T | CA402176629 | ASXL3 | c.1864G>T (p.Ala622Ser) c.1861G>T (p.Ala621Ser) c.*985G>T (n.*985G>T) c.*1520G>T (n.*1520G>T) c.2073G>T (n.2073G>T) c.1693G>T (p.Ala565Ser) c.1741G>T (p.Ala581Ser) c.1837G>T (p.Ala613Ser) c.1783G>T (p.Ala595Ser) c.1744G>T (p.Ala582Ser) | gnomAD v4 |
18 | g.33739266C>A | CA402176634 | ASXL3 | c.1865C>A (p.Ala622Asp) c.1862C>A (p.Ala621Asp) c.*986C>A (n.*986C>A) c.*1521C>A (n.*1521C>A) c.2074C>A (n.2074C>A) c.1694C>A (p.Ala565Asp) c.1742C>A (p.Ala581Asp) c.1838C>A (p.Ala613Asp) c.1784C>A (p.Ala595Asp) c.1745C>A (p.Ala582Asp) | gnomAD v4 |
18 | g.33739266C= | CA2294855892 | ASXL3 | c.1865C= (p.Ala622=) c.1862C= (p.Ala621=) c.*986C= (n.*986C=) c.*1521C= (n.*1521C=) c.2074C= (n.2074C=) c.1694C= (p.Ala565=) c.1742C= (p.Ala581=) c.1838C= (p.Ala613=) c.1784C= (p.Ala595=) c.1745C= (p.Ala582=) | |
18 | g.33739266C>G | CA402176636 | ASXL3 | c.1865C>G (p.Ala622Gly) c.1862C>G (p.Ala621Gly) c.*986C>G (n.*986C>G) c.*1521C>G (n.*1521C>G) c.2074C>G (n.2074C>G) c.1694C>G (p.Ala565Gly) c.1742C>G (p.Ala581Gly) c.1838C>G (p.Ala613Gly) c.1784C>G (p.Ala595Gly) c.1745C>G (p.Ala582Gly) | |
18 | g.33739266C>T | CA8933823 | ASXL3 | c.1865C>T (p.Ala622Val) c.1862C>T (p.Ala621Val) c.*986C>T (n.*986C>T) c.*1521C>T (n.*1521C>T) c.2074C>T (n.2074C>T) c.1694C>T (p.Ala565Val) c.1742C>T (p.Ala581Val) c.1838C>T (p.Ala613Val) c.1784C>T (p.Ala595Val) c.1745C>T (p.Ala582Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739267C>A | CA503768863 | ASXL3 | c.1866C>A (p.Ala622=) c.1863C>A (p.Ala621=) c.*987C>A (n.*987C>A) c.*1522C>A (n.*1522C>A) c.2075C>A (n.2075C>A) c.1695C>A (p.Ala565=) c.1743C>A (p.Ala581=) c.1839C>A (p.Ala613=) c.1785C>A (p.Ala595=) c.1746C>A (p.Ala582=) | |
18 | g.33739267C>G | CA503768864 | ASXL3 | c.1866C>G (p.Ala622=) c.1863C>G (p.Ala621=) c.*987C>G (n.*987C>G) c.*1522C>G (n.*1522C>G) c.2075C>G (n.2075C>G) c.1695C>G (p.Ala565=) c.1743C>G (p.Ala581=) c.1839C>G (p.Ala613=) c.1785C>G (p.Ala595=) c.1746C>G (p.Ala582=) | |
18 | g.33739267C>T | CA503768865 | ASXL3 | c.1866C>T (p.Ala622=) c.1863C>T (p.Ala621=) c.*987C>T (n.*987C>T) c.*1522C>T (n.*1522C>T) c.2075C>T (n.2075C>T) c.1695C>T (p.Ala565=) c.1743C>T (p.Ala581=) c.1839C>T (p.Ala613=) c.1785C>T (p.Ala595=) c.1746C>T (p.Ala582=) | |
18 | g.33739268T>A | CA402176640 | ASXL3 | c.1867T>A (p.Cys623Ser) c.1864T>A (p.Cys622Ser) c.*988T>A (n.*988T>A) c.*1523T>A (n.*1523T>A) c.2076T>A (n.2076T>A) c.1696T>A (p.Cys566Ser) c.1744T>A (p.Cys582Ser) c.1840T>A (p.Cys614Ser) c.1786T>A (p.Cys596Ser) c.1747T>A (p.Cys583Ser) | |
18 | g.33739268T>C | CA402176641 | ASXL3 | c.1867T>C (p.Cys623Arg) c.1864T>C (p.Cys622Arg) c.*988T>C (n.*988T>C) c.*1523T>C (n.*1523T>C) c.2076T>C (n.2076T>C) c.1696T>C (p.Cys566Arg) c.1744T>C (p.Cys582Arg) c.1840T>C (p.Cys614Arg) c.1786T>C (p.Cys596Arg) c.1747T>C (p.Cys583Arg) | |
18 | g.33739268T>G | CA402176642 | ASXL3 | c.1867T>G (p.Cys623Gly) c.1864T>G (p.Cys622Gly) c.*988T>G (n.*988T>G) c.*1523T>G (n.*1523T>G) c.2076T>G (n.2076T>G) c.1696T>G (p.Cys566Gly) c.1744T>G (p.Cys582Gly) c.1840T>G (p.Cys614Gly) c.1786T>G (p.Cys596Gly) c.1747T>G (p.Cys583Gly) | |
18 | g.33739268dup | CA2573054653 | ASXL3 | c.1867dup (p.Cys623LeufsTer25) c.1864dup (p.Cys622LeufsTer25) c.*988dup (n.*988dup) c.*1523dup (n.*1523dup) c.2076dup (n.2076dup) c.1696dup (p.Cys566LeufsTer25) c.1744dup (p.Cys582LeufsTer25) c.1840dup (p.Cys614LeufsTer25) c.1786dup (p.Cys596LeufsTer25) c.1747dup (p.Cys583LeufsTer25) | ClinVar dbSNP |
18 | g.33739269G>A | CA402176648 | ASXL3 | c.1868G>A (p.Cys623Tyr) c.1865G>A (p.Cys622Tyr) c.*989G>A (n.*989G>A) c.*1524G>A (n.*1524G>A) c.2077G>A (n.2077G>A) c.1697G>A (p.Cys566Tyr) c.1745G>A (p.Cys582Tyr) c.1841G>A (p.Cys614Tyr) c.1787G>A (p.Cys596Tyr) c.1748G>A (p.Cys583Tyr) | gnomAD v4 COSMIC COSMIC |
18 | g.33739269G>C | CA402176643 | ASXL3 | c.1868G>C (p.Cys623Ser) c.1865G>C (p.Cys622Ser) c.*989G>C (n.*989G>C) c.*1524G>C (n.*1524G>C) c.2077G>C (n.2077G>C) c.1697G>C (p.Cys566Ser) c.1745G>C (p.Cys582Ser) c.1841G>C (p.Cys614Ser) c.1787G>C (p.Cys596Ser) c.1748G>C (p.Cys583Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739269G= | CA2294855893 | ASXL3 | c.1868G= (p.Cys623=) c.1865G= (p.Cys622=) c.*989G= (n.*989G=) c.*1524G= (n.*1524G=) c.2077G= (n.2077G=) c.1697G= (p.Cys566=) c.1745G= (p.Cys582=) c.1841G= (p.Cys614=) c.1787G= (p.Cys596=) c.1748G= (p.Cys583=) | |
18 | g.33739269G>T | CA402176645 | ASXL3 | c.1868G>T (p.Cys623Phe) c.1865G>T (p.Cys622Phe) c.*989G>T (n.*989G>T) c.*1524G>T (n.*1524G>T) c.2077G>T (n.2077G>T) c.1697G>T (p.Cys566Phe) c.1745G>T (p.Cys582Phe) c.1841G>T (p.Cys614Phe) c.1787G>T (p.Cys596Phe) c.1748G>T (p.Cys583Phe) | |
18 | g.33739270T>A | CA402176649 | ASXL3 | c.1869T>A (p.Cys623Ter) c.1866T>A (p.Cys622Ter) c.*990T>A (n.*990T>A) c.*1525T>A (n.*1525T>A) c.2078T>A (n.2078T>A) c.1698T>A (p.Cys566Ter) c.1746T>A (p.Cys582Ter) c.1842T>A (p.Cys614Ter) c.1788T>A (p.Cys596Ter) c.1749T>A (p.Cys583Ter) | |
18 | g.33739270T>C | CA503768871 | ASXL3 | c.1869T>C (p.Cys623=) c.1866T>C (p.Cys622=) c.*990T>C (n.*990T>C) c.*1525T>C (n.*1525T>C) c.2078T>C (n.2078T>C) c.1698T>C (p.Cys566=) c.1746T>C (p.Cys582=) c.1842T>C (p.Cys614=) c.1788T>C (p.Cys596=) c.1749T>C (p.Cys583=) | |
18 | g.33739270T>G | CA402176650 | ASXL3 | c.1869T>G (p.Cys623Trp) c.1866T>G (p.Cys622Trp) c.*990T>G (n.*990T>G) c.*1525T>G (n.*1525T>G) c.2078T>G (n.2078T>G) c.1698T>G (p.Cys566Trp) c.1746T>G (p.Cys582Trp) c.1842T>G (p.Cys614Trp) c.1788T>G (p.Cys596Trp) c.1749T>G (p.Cys583Trp) | |
18 | g.33739271A= | CA2294855894 | ASXL3 | c.1870A= (p.Thr624=) c.1867A= (p.Thr623=) c.*991A= (n.*991A=) c.*1526A= (n.*1526A=) c.2079A= (n.2079A=) c.1699A= (p.Thr567=) c.1747A= (p.Thr583=) c.1843A= (p.Thr615=) c.1789A= (p.Thr597=) c.1750A= (p.Thr584=) | |
18 | g.33739271A>C | CA402176652 | ASXL3 | c.1870A>C (p.Thr624Pro) c.1867A>C (p.Thr623Pro) c.*991A>C (n.*991A>C) c.*1526A>C (n.*1526A>C) c.2079A>C (n.2079A>C) c.1699A>C (p.Thr567Pro) c.1747A>C (p.Thr583Pro) c.1843A>C (p.Thr615Pro) c.1789A>C (p.Thr597Pro) c.1750A>C (p.Thr584Pro) | dbSNP |
18 | g.33739271A>G | CA402176655 | ASXL3 | c.1870A>G (p.Thr624Ala) c.1867A>G (p.Thr623Ala) c.*991A>G (n.*991A>G) c.*1526A>G (n.*1526A>G) c.2079A>G (n.2079A>G) c.1699A>G (p.Thr567Ala) c.1747A>G (p.Thr583Ala) c.1843A>G (p.Thr615Ala) c.1789A>G (p.Thr597Ala) c.1750A>G (p.Thr584Ala) | gnomAD v4 |
18 | g.33739271A>T | CA402176657 | ASXL3 | c.1870A>T (p.Thr624Ser) c.1867A>T (p.Thr623Ser) c.*991A>T (n.*991A>T) c.*1526A>T (n.*1526A>T) c.2079A>T (n.2079A>T) c.1699A>T (p.Thr567Ser) c.1747A>T (p.Thr583Ser) c.1843A>T (p.Thr615Ser) c.1789A>T (p.Thr597Ser) c.1750A>T (p.Thr584Ser) | dbSNP gnomAD v4 |
18 | g.33739272C>A | CA402176665 | ASXL3 | c.1871C>A (p.Thr624Asn) c.1868C>A (p.Thr623Asn) c.*992C>A (n.*992C>A) c.*1527C>A (n.*1527C>A) c.2080C>A (n.2080C>A) c.1700C>A (p.Thr567Asn) c.1748C>A (p.Thr583Asn) c.1844C>A (p.Thr615Asn) c.1790C>A (p.Thr597Asn) c.1751C>A (p.Thr584Asn) | |
18 | g.33739272C= | CA2294855895 | ASXL3 | c.1871C= (p.Thr624=) c.1868C= (p.Thr623=) c.*992C= (n.*992C=) c.*1527C= (n.*1527C=) c.2080C= (n.2080C=) c.1700C= (p.Thr567=) c.1748C= (p.Thr583=) c.1844C= (p.Thr615=) c.1790C= (p.Thr597=) c.1751C= (p.Thr584=) | |
18 | g.33739272C>G | CA8933824 | ASXL3 | c.1871C>G (p.Thr624Ser) c.1868C>G (p.Thr623Ser) c.*992C>G (n.*992C>G) c.*1527C>G (n.*1527C>G) c.2080C>G (n.2080C>G) c.1700C>G (p.Thr567Ser) c.1748C>G (p.Thr583Ser) c.1844C>G (p.Thr615Ser) c.1790C>G (p.Thr597Ser) c.1751C>G (p.Thr584Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739272C>T | CA297787057 | ASXL3 | c.1871C>T (p.Thr624Ile) c.1868C>T (p.Thr623Ile) c.*992C>T (n.*992C>T) c.*1527C>T (n.*1527C>T) c.2080C>T (n.2080C>T) c.1700C>T (p.Thr567Ile) c.1748C>T (p.Thr583Ile) c.1844C>T (p.Thr615Ile) c.1790C>T (p.Thr597Ile) c.1751C>T (p.Thr584Ile) | dbSNP gnomAD v4 |
18 | g.33739273C>A | CA503768873 | ASXL3 | c.1872C>A (p.Thr624=) c.1869C>A (p.Thr623=) c.*993C>A (n.*993C>A) c.*1528C>A (n.*1528C>A) c.2081C>A (n.2081C>A) c.1701C>A (p.Thr567=) c.1749C>A (p.Thr583=) c.1845C>A (p.Thr615=) c.1791C>A (p.Thr597=) c.1752C>A (p.Thr584=) | |
18 | g.33739273C>G | CA503768874 | ASXL3 | c.1872C>G (p.Thr624=) c.1869C>G (p.Thr623=) c.*993C>G (n.*993C>G) c.*1528C>G (n.*1528C>G) c.2081C>G (n.2081C>G) c.1701C>G (p.Thr567=) c.1749C>G (p.Thr583=) c.1845C>G (p.Thr615=) c.1791C>G (p.Thr597=) c.1752C>G (p.Thr584=) | |
18 | g.33739273C>T | CA503768875 | ASXL3 | c.1872C>T (p.Thr624=) c.1869C>T (p.Thr623=) c.*993C>T (n.*993C>T) c.*1528C>T (n.*1528C>T) c.2081C>T (n.2081C>T) c.1701C>T (p.Thr567=) c.1749C>T (p.Thr583=) c.1845C>T (p.Thr615=) c.1791C>T (p.Thr597=) c.1752C>T (p.Thr584=) | |
18 | g.33739274A= | CA2294855896 | ASXL3 | c.1873A= (p.Ser625=) c.1870A= (p.Ser624=) c.*994A= (n.*994A=) c.*1529A= (n.*1529A=) c.2082A= (n.2082A=) c.1702A= (p.Ser568=) c.1750A= (p.Ser584=) c.1846A= (p.Ser616=) c.1792A= (p.Ser598=) c.1753A= (p.Ser585=) | |
18 | g.33739274A>C | CA402176667 | ASXL3 | c.1873A>C (p.Ser625Arg) c.1870A>C (p.Ser624Arg) c.*994A>C (n.*994A>C) c.*1529A>C (n.*1529A>C) c.2082A>C (n.2082A>C) c.1702A>C (p.Ser568Arg) c.1750A>C (p.Ser584Arg) c.1846A>C (p.Ser616Arg) c.1792A>C (p.Ser598Arg) c.1753A>C (p.Ser585Arg) | |
18 | g.33739274A>G | CA402176668 | ASXL3 | c.1873A>G (p.Ser625Gly) c.1870A>G (p.Ser624Gly) c.*994A>G (n.*994A>G) c.*1529A>G (n.*1529A>G) c.2082A>G (n.2082A>G) c.1702A>G (p.Ser568Gly) c.1750A>G (p.Ser584Gly) c.1846A>G (p.Ser616Gly) c.1792A>G (p.Ser598Gly) c.1753A>G (p.Ser585Gly) | dbSNP gnomAD v4 |
18 | g.33739274A>T | CA402176670 | ASXL3 | c.1873A>T (p.Ser625Cys) c.1870A>T (p.Ser624Cys) c.*994A>T (n.*994A>T) c.*1529A>T (n.*1529A>T) c.2082A>T (n.2082A>T) c.1702A>T (p.Ser568Cys) c.1750A>T (p.Ser584Cys) c.1846A>T (p.Ser616Cys) c.1792A>T (p.Ser598Cys) c.1753A>T (p.Ser585Cys) | |
18 | g.33739275G>A | CA402176671 | ASXL3 | c.1874G>A (p.Ser625Asn) c.1871G>A (p.Ser624Asn) c.*995G>A (n.*995G>A) c.*1530G>A (n.*1530G>A) c.2083G>A (n.2083G>A) c.1703G>A (p.Ser568Asn) c.1751G>A (p.Ser584Asn) c.1847G>A (p.Ser616Asn) c.1793G>A (p.Ser598Asn) c.1754G>A (p.Ser585Asn) | dbSNP gnomAD v2 |
18 | g.33739275G>C | CA402176674 | ASXL3 | c.1874G>C (p.Ser625Thr) c.1871G>C (p.Ser624Thr) c.*995G>C (n.*995G>C) c.*1530G>C (n.*1530G>C) c.2083G>C (n.2083G>C) c.1703G>C (p.Ser568Thr) c.1751G>C (p.Ser584Thr) c.1847G>C (p.Ser616Thr) c.1793G>C (p.Ser598Thr) c.1754G>C (p.Ser585Thr) | |
18 | g.33739275G= | CA2294855897 | ASXL3 | c.1874G= (p.Ser625=) c.1871G= (p.Ser624=) c.*995G= (n.*995G=) c.*1530G= (n.*1530G=) c.2083G= (n.2083G=) c.1703G= (p.Ser568=) c.1751G= (p.Ser584=) c.1847G= (p.Ser616=) c.1793G= (p.Ser598=) c.1754G= (p.Ser585=) | |
18 | g.33739275G>T | CA402176675 | ASXL3 | c.1874G>T (p.Ser625Ile) c.1871G>T (p.Ser624Ile) c.*995G>T (n.*995G>T) c.*1530G>T (n.*1530G>T) c.2083G>T (n.2083G>T) c.1703G>T (p.Ser568Ile) c.1751G>T (p.Ser584Ile) c.1847G>T (p.Ser616Ile) c.1793G>T (p.Ser598Ile) c.1754G>T (p.Ser585Ile) | |
18 | g.33739276C>A | CA8933825 | ASXL3 | c.1875C>A (p.Ser625Arg) c.1872C>A (p.Ser624Arg) c.*996C>A (n.*996C>A) c.*1531C>A (n.*1531C>A) c.2084C>A (n.2084C>A) c.1704C>A (p.Ser568Arg) c.1752C>A (p.Ser584Arg) c.1848C>A (p.Ser616Arg) c.1794C>A (p.Ser598Arg) c.1755C>A (p.Ser585Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.33739276C= | CA2294855898 | ASXL3 | c.1875C= (p.Ser625=) c.1872C= (p.Ser624=) c.*996C= (n.*996C=) c.*1531C= (n.*1531C=) c.2084C= (n.2084C=) c.1704C= (p.Ser568=) c.1752C= (p.Ser584=) c.1848C= (p.Ser616=) c.1794C= (p.Ser598=) c.1755C= (p.Ser585=) | |
18 | g.33739276C>G | CA402176678 | ASXL3 | c.1875C>G (p.Ser625Arg) c.1872C>G (p.Ser624Arg) c.*996C>G (n.*996C>G) c.*1531C>G (n.*1531C>G) c.2084C>G (n.2084C>G) c.1704C>G (p.Ser568Arg) c.1752C>G (p.Ser584Arg) c.1848C>G (p.Ser616Arg) c.1794C>G (p.Ser598Arg) c.1755C>G (p.Ser585Arg) | |
18 | g.33739276C>T | CA503768878 | ASXL3 | c.1875C>T (p.Ser625=) c.1872C>T (p.Ser624=) c.*996C>T (n.*996C>T) c.*1531C>T (n.*1531C>T) c.2084C>T (n.2084C>T) c.1704C>T (p.Ser568=) c.1752C>T (p.Ser584=) c.1848C>T (p.Ser616=) c.1794C>T (p.Ser598=) c.1755C>T (p.Ser585=) | |
18 | g.33739277C>A | CA402176679 | ASXL3 | c.1876C>A (p.Leu626Met) c.1873C>A (p.Leu625Met) c.*997C>A (n.*997C>A) c.*1532C>A (n.*1532C>A) c.2085C>A (n.2085C>A) c.1705C>A (p.Leu569Met) c.1753C>A (p.Leu585Met) c.1849C>A (p.Leu617Met) c.1795C>A (p.Leu599Met) c.1756C>A (p.Leu586Met) | |
18 | g.33739277C= | CA2294855899 | ASXL3 | c.1876C= (p.Leu626=) c.1873C= (p.Leu625=) c.*997C= (n.*997C=) c.*1532C= (n.*1532C=) c.2085C= (n.2085C=) c.1705C= (p.Leu569=) c.1753C= (p.Leu585=) c.1849C= (p.Leu617=) c.1795C= (p.Leu599=) c.1756C= (p.Leu586=) | |
18 | g.33739277C>G | CA402176680 | ASXL3 | c.1876C>G (p.Leu626Val) c.1873C>G (p.Leu625Val) c.*997C>G (n.*997C>G) c.*1532C>G (n.*1532C>G) c.2085C>G (n.2085C>G) c.1705C>G (p.Leu569Val) c.1753C>G (p.Leu585Val) c.1849C>G (p.Leu617Val) c.1795C>G (p.Leu599Val) c.1756C>G (p.Leu586Val) | |
18 | g.33739277C>T | CA503768882 | ASXL3 | c.1876C>T (p.Leu626=) c.1873C>T (p.Leu625=) c.*997C>T (n.*997C>T) c.*1532C>T (n.*1532C>T) c.2085C>T (n.2085C>T) c.1705C>T (p.Leu569=) c.1753C>T (p.Leu585=) c.1849C>T (p.Leu617=) c.1795C>T (p.Leu599=) c.1756C>T (p.Leu586=) | dbSNP gnomAD v2 COSMIC COSMIC |
18 | g.33739278T>A | CA402176681 | ASXL3 | c.1877T>A (p.Leu626Gln) c.1874T>A (p.Leu625Gln) c.*998T>A (n.*998T>A) c.*1533T>A (n.*1533T>A) c.2086T>A (n.2086T>A) c.1706T>A (p.Leu569Gln) c.1754T>A (p.Leu585Gln) c.1850T>A (p.Leu617Gln) c.1796T>A (p.Leu599Gln) c.1757T>A (p.Leu586Gln) | |
18 | g.33739278T>C | CA402176682 | ASXL3 | c.1877T>C (p.Leu626Pro) c.1874T>C (p.Leu625Pro) c.*998T>C (n.*998T>C) c.*1533T>C (n.*1533T>C) c.2086T>C (n.2086T>C) c.1706T>C (p.Leu569Pro) c.1754T>C (p.Leu585Pro) c.1850T>C (p.Leu617Pro) c.1796T>C (p.Leu599Pro) c.1757T>C (p.Leu586Pro) | |
18 | g.33739278T>G | CA402176683 | ASXL3 | c.1877T>G (p.Leu626Arg) c.1874T>G (p.Leu625Arg) c.*998T>G (n.*998T>G) c.*1533T>G (n.*1533T>G) c.2086T>G (n.2086T>G) c.1706T>G (p.Leu569Arg) c.1754T>G (p.Leu585Arg) c.1850T>G (p.Leu617Arg) c.1796T>G (p.Leu599Arg) c.1757T>G (p.Leu586Arg) | |
18 | g.33739279G>A | CA503768885 | ASXL3 | c.1878G>A (p.Leu626=) c.1875G>A (p.Leu625=) c.*999G>A (n.*999G>A) c.*1534G>A (n.*1534G>A) c.2087G>A (n.2087G>A) c.1707G>A (p.Leu569=) c.1755G>A (p.Leu585=) c.1851G>A (p.Leu617=) c.1797G>A (p.Leu599=) c.1758G>A (p.Leu586=) | |
18 | g.33739279G>C | CA503768884 | ASXL3 | c.1878G>C (p.Leu626=) c.1875G>C (p.Leu625=) c.*999G>C (n.*999G>C) c.*1534G>C (n.*1534G>C) c.2087G>C (n.2087G>C) c.1707G>C (p.Leu569=) c.1755G>C (p.Leu585=) c.1851G>C (p.Leu617=) c.1797G>C (p.Leu599=) c.1758G>C (p.Leu586=) | |
18 | g.33739279G>T | CA503768883 | ASXL3 | c.1878G>T (p.Leu626=) c.1875G>T (p.Leu625=) c.*999G>T (n.*999G>T) c.*1534G>T (n.*1534G>T) c.2087G>T (n.2087G>T) c.1707G>T (p.Leu569=) c.1755G>T (p.Leu585=) c.1851G>T (p.Leu617=) c.1797G>T (p.Leu599=) c.1758G>T (p.Leu586=) | |
18 | g.33739280C>A | CA402176686 | ASXL3 | c.1879C>A (p.Pro627Thr) c.1876C>A (p.Pro626Thr) c.*1000C>A (n.*1000C>A) c.*1535C>A (n.*1535C>A) c.2088C>A (n.2088C>A) c.1708C>A (p.Pro570Thr) c.1756C>A (p.Pro586Thr) c.1852C>A (p.Pro618Thr) c.1798C>A (p.Pro600Thr) c.1759C>A (p.Pro587Thr) | |
18 | g.33739280C= | CA2294855900 | ASXL3 | c.1879C= (p.Pro627=) c.1876C= (p.Pro626=) c.*1000C= (n.*1000C=) c.*1535C= (n.*1535C=) c.2088C= (n.2088C=) c.1708C= (p.Pro570=) c.1756C= (p.Pro586=) c.1852C= (p.Pro618=) c.1798C= (p.Pro600=) c.1759C= (p.Pro587=) | |
18 | g.33739280C>G | CA8933826 | ASXL3 | c.1879C>G (p.Pro627Ala) c.1876C>G (p.Pro626Ala) c.*1000C>G (n.*1000C>G) c.*1535C>G (n.*1535C>G) c.2088C>G (n.2088C>G) c.1708C>G (p.Pro570Ala) c.1756C>G (p.Pro586Ala) c.1852C>G (p.Pro618Ala) c.1798C>G (p.Pro600Ala) c.1759C>G (p.Pro587Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739280C>T | CA402176688 | ASXL3 | c.1879C>T (p.Pro627Ser) c.1876C>T (p.Pro626Ser) c.*1000C>T (n.*1000C>T) c.*1535C>T (n.*1535C>T) c.2088C>T (n.2088C>T) c.1708C>T (p.Pro570Ser) c.1756C>T (p.Pro586Ser) c.1852C>T (p.Pro618Ser) c.1798C>T (p.Pro600Ser) c.1759C>T (p.Pro587Ser) | gnomAD v4 |
18 | g.33739281C>A | CA402176692 | ASXL3 | c.1880C>A (p.Pro627His) c.1877C>A (p.Pro626His) c.*1001C>A (n.*1001C>A) c.*1536C>A (n.*1536C>A) c.2089C>A (n.2089C>A) c.1709C>A (p.Pro570His) c.1757C>A (p.Pro586His) c.1853C>A (p.Pro618His) c.1799C>A (p.Pro600His) c.1760C>A (p.Pro587His) | |
18 | g.33739281C>G | CA402176694 | ASXL3 | c.1880C>G (p.Pro627Arg) c.1877C>G (p.Pro626Arg) c.*1001C>G (n.*1001C>G) c.*1536C>G (n.*1536C>G) c.2089C>G (n.2089C>G) c.1709C>G (p.Pro570Arg) c.1757C>G (p.Pro586Arg) c.1853C>G (p.Pro618Arg) c.1799C>G (p.Pro600Arg) c.1760C>G (p.Pro587Arg) | |
18 | g.33739281C>T | CA402176695 | ASXL3 | c.1880C>T (p.Pro627Leu) c.1877C>T (p.Pro626Leu) c.*1001C>T (n.*1001C>T) c.*1536C>T (n.*1536C>T) c.2089C>T (n.2089C>T) c.1709C>T (p.Pro570Leu) c.1757C>T (p.Pro586Leu) c.1853C>T (p.Pro618Leu) c.1799C>T (p.Pro600Leu) c.1760C>T (p.Pro587Leu) | gnomAD v4 |
18 | g.33739282T>A | CA503768887 | ASXL3 | c.1881T>A (p.Pro627=) c.1878T>A (p.Pro626=) c.*1002T>A (n.*1002T>A) c.*1537T>A (n.*1537T>A) c.2090T>A (n.2090T>A) c.1710T>A (p.Pro570=) c.1758T>A (p.Pro586=) c.1854T>A (p.Pro618=) c.1800T>A (p.Pro600=) c.1761T>A (p.Pro587=) | |
18 | g.33739282T>C | CA503768889 | ASXL3 | c.1881T>C (p.Pro627=) c.1878T>C (p.Pro626=) c.*1002T>C (n.*1002T>C) c.*1537T>C (n.*1537T>C) c.2090T>C (n.2090T>C) c.1710T>C (p.Pro570=) c.1758T>C (p.Pro586=) c.1854T>C (p.Pro618=) c.1800T>C (p.Pro600=) c.1761T>C (p.Pro587=) | gnomAD v4 |
18 | g.33739282T>G | CA503768888 | ASXL3 | c.1881T>G (p.Pro627=) c.1878T>G (p.Pro626=) c.*1002T>G (n.*1002T>G) c.*1537T>G (n.*1537T>G) c.2090T>G (n.2090T>G) c.1710T>G (p.Pro570=) c.1758T>G (p.Pro586=) c.1854T>G (p.Pro618=) c.1800T>G (p.Pro600=) c.1761T>G (p.Pro587=) | |
18 | g.33739283T>A | CA402176702 | ASXL3 | c.1882T>A (p.Ser628Thr) c.1879T>A (p.Ser627Thr) c.*1003T>A (n.*1003T>A) c.*1538T>A (n.*1538T>A) c.2091T>A (n.2091T>A) c.1711T>A (p.Ser571Thr) c.1759T>A (p.Ser587Thr) c.1855T>A (p.Ser619Thr) c.1801T>A (p.Ser601Thr) c.1762T>A (p.Ser588Thr) | |
18 | g.33739283T>C | CA402176707 | ASXL3 | c.1882T>C (p.Ser628Pro) c.1879T>C (p.Ser627Pro) c.*1003T>C (n.*1003T>C) c.*1538T>C (n.*1538T>C) c.2091T>C (n.2091T>C) c.1711T>C (p.Ser571Pro) c.1759T>C (p.Ser587Pro) c.1855T>C (p.Ser619Pro) c.1801T>C (p.Ser601Pro) c.1762T>C (p.Ser588Pro) | |
18 | g.33739283T>G | CA402176713 | ASXL3 | c.1882T>G (p.Ser628Ala) c.1879T>G (p.Ser627Ala) c.*1003T>G (n.*1003T>G) c.*1538T>G (n.*1538T>G) c.2091T>G (n.2091T>G) c.1711T>G (p.Ser571Ala) c.1759T>G (p.Ser587Ala) c.1855T>G (p.Ser619Ala) c.1801T>G (p.Ser601Ala) c.1762T>G (p.Ser588Ala) | |
18 | g.33739284C>A | CA402176716 | ASXL3 | c.1883C>A (p.Ser628Tyr) c.1880C>A (p.Ser627Tyr) c.*1004C>A (n.*1004C>A) c.*1539C>A (n.*1539C>A) c.2092C>A (n.2092C>A) c.1712C>A (p.Ser571Tyr) c.1760C>A (p.Ser587Tyr) c.1856C>A (p.Ser619Tyr) c.1802C>A (p.Ser601Tyr) c.1763C>A (p.Ser588Tyr) | |
18 | g.33739284C>G | CA402176718 | ASXL3 | c.1883C>G (p.Ser628Cys) c.1880C>G (p.Ser627Cys) c.*1004C>G (n.*1004C>G) c.*1539C>G (n.*1539C>G) c.2092C>G (n.2092C>G) c.1712C>G (p.Ser571Cys) c.1760C>G (p.Ser587Cys) c.1856C>G (p.Ser619Cys) c.1802C>G (p.Ser601Cys) c.1763C>G (p.Ser588Cys) | |
18 | g.33739284C>T | CA402176720 | ASXL3 | c.1883C>T (p.Ser628Phe) c.1880C>T (p.Ser627Phe) c.*1004C>T (n.*1004C>T) c.*1539C>T (n.*1539C>T) c.2092C>T (n.2092C>T) c.1712C>T (p.Ser571Phe) c.1760C>T (p.Ser587Phe) c.1856C>T (p.Ser619Phe) c.1802C>T (p.Ser601Phe) c.1763C>T (p.Ser588Phe) | gnomAD v4 |
18 | g.33739285del | CA2576484113 | ASXL3 | c.1884del (p.Pro629GlnfsTer?) c.1881del (p.Pro628GlnfsTer?) c.*1005del (n.*1005del) c.*1540del (n.*1540del) c.2093del (n.2093del) c.1713del (p.Pro572GlnfsTer?) c.1761del (p.Pro588GlnfsTer?) c.1857del (p.Pro620GlnfsTer?) c.1803del (p.Pro602GlnfsTer?) c.1764del (p.Pro589GlnfsTer?) | |
18 | g.33739285T>A | CA503768893 | ASXL3 | c.1884T>A (p.Ser628=) c.1881T>A (p.Ser627=) c.*1005T>A (n.*1005T>A) c.*1540T>A (n.*1540T>A) c.2093T>A (n.2093T>A) c.1713T>A (p.Ser571=) c.1761T>A (p.Ser587=) c.1857T>A (p.Ser619=) c.1803T>A (p.Ser601=) c.1764T>A (p.Ser588=) | |
18 | g.33739285T>C | CA503768894 | ASXL3 | c.1884T>C (p.Ser628=) c.1881T>C (p.Ser627=) c.*1005T>C (n.*1005T>C) c.*1540T>C (n.*1540T>C) c.2093T>C (n.2093T>C) c.1713T>C (p.Ser571=) c.1761T>C (p.Ser587=) c.1857T>C (p.Ser619=) c.1803T>C (p.Ser601=) c.1764T>C (p.Ser588=) | |
18 | g.33739285T>G | CA503768895 | ASXL3 | c.1884T>G (p.Ser628=) c.1881T>G (p.Ser627=) c.*1005T>G (n.*1005T>G) c.*1540T>G (n.*1540T>G) c.2093T>G (n.2093T>G) c.1713T>G (p.Ser571=) c.1761T>G (p.Ser587=) c.1857T>G (p.Ser619=) c.1803T>G (p.Ser601=) c.1764T>G (p.Ser588=) | |
18 | g.33739286C>A | CA402176722 | ASXL3 | c.1885C>A (p.Pro629Thr) c.1882C>A (p.Pro628Thr) c.*1006C>A (n.*1006C>A) c.*1541C>A (n.*1541C>A) c.2094C>A (n.2094C>A) c.1714C>A (p.Pro572Thr) c.1762C>A (p.Pro588Thr) c.1858C>A (p.Pro620Thr) c.1804C>A (p.Pro602Thr) c.1765C>A (p.Pro589Thr) | |
18 | g.33739286C= | CA2294855901 | ASXL3 | c.1885C= (p.Pro629=) c.1882C= (p.Pro628=) c.*1006C= (n.*1006C=) c.*1541C= (n.*1541C=) c.2094C= (n.2094C=) c.1714C= (p.Pro572=) c.1762C= (p.Pro588=) c.1858C= (p.Pro620=) c.1804C= (p.Pro602=) c.1765C= (p.Pro589=) | |
18 | g.33739286C>G | CA8933827 | ASXL3 | c.1885C>G (p.Pro629Ala) c.1882C>G (p.Pro628Ala) c.*1006C>G (n.*1006C>G) c.*1541C>G (n.*1541C>G) c.2094C>G (n.2094C>G) c.1714C>G (p.Pro572Ala) c.1762C>G (p.Pro588Ala) c.1858C>G (p.Pro620Ala) c.1804C>G (p.Pro602Ala) c.1765C>G (p.Pro589Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739286C>T | CA402176736 | ASXL3 | c.1885C>T (p.Pro629Ser) c.1882C>T (p.Pro628Ser) c.*1006C>T (n.*1006C>T) c.*1541C>T (n.*1541C>T) c.2094C>T (n.2094C>T) c.1714C>T (p.Pro572Ser) c.1762C>T (p.Pro588Ser) c.1858C>T (p.Pro620Ser) c.1804C>T (p.Pro602Ser) c.1765C>T (p.Pro589Ser) | |
18 | g.33739287C>A | CA402176749 | ASXL3 | c.1886C>A (p.Pro629Gln) c.1883C>A (p.Pro628Gln) c.*1007C>A (n.*1007C>A) c.*1542C>A (n.*1542C>A) c.2095C>A (n.2095C>A) c.1715C>A (p.Pro572Gln) c.1763C>A (p.Pro588Gln) c.1859C>A (p.Pro620Gln) c.1805C>A (p.Pro602Gln) c.1766C>A (p.Pro589Gln) | |
18 | g.33739287C= | CA2294855902 | ASXL3 | c.1886C= (p.Pro629=) c.1883C= (p.Pro628=) c.*1007C= (n.*1007C=) c.*1542C= (n.*1542C=) c.2095C= (n.2095C=) c.1715C= (p.Pro572=) c.1763C= (p.Pro588=) c.1859C= (p.Pro620=) c.1805C= (p.Pro602=) c.1766C= (p.Pro589=) | |
18 | g.33739287C>G | CA402176745 | ASXL3 | c.1886C>G (p.Pro629Arg) c.1883C>G (p.Pro628Arg) c.*1007C>G (n.*1007C>G) c.*1542C>G (n.*1542C>G) c.2095C>G (n.2095C>G) c.1715C>G (p.Pro572Arg) c.1763C>G (p.Pro588Arg) c.1859C>G (p.Pro620Arg) c.1805C>G (p.Pro602Arg) c.1766C>G (p.Pro589Arg) | |
18 | g.33739287C>T | CA8933828 | ASXL3 | c.1886C>T (p.Pro629Leu) c.1883C>T (p.Pro628Leu) c.*1007C>T (n.*1007C>T) c.*1542C>T (n.*1542C>T) c.2095C>T (n.2095C>T) c.1715C>T (p.Pro572Leu) c.1763C>T (p.Pro588Leu) c.1859C>T (p.Pro620Leu) c.1805C>T (p.Pro602Leu) c.1766C>T (p.Pro589Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739287_33739289delinsCAG | CA2294855903 | ASXL3 | c.1886_1888delinsCAG (p.Pro629=) c.1883_1885delinsCAG (p.Pro628=) c.*1007_*1009delinsCAG (n.*1007_*1009delinsCAG) c.*1542_*1544delinsCAG (n.*1542_*1544delinsCAG) c.2095_2097delinsCAG (n.2095_2097delinsCAG) c.1715_1717delinsCAG (p.Pro572=) c.1763_1765delinsCAG (p.Pro588=) c.1859_1861delinsCAG (p.Pro620=) c.1805_1807delinsCAG (p.Pro602=) c.1766_1768delinsCAG (p.Pro589=) | |
18 | g.33739288A= | CA2294855904 | ASXL3 | c.1887A= (p.Pro629=) c.1884A= (p.Pro628=) c.*1008A= (n.*1008A=) c.*1543A= (n.*1543A=) c.2096A= (n.2096A=) c.1716A= (p.Pro572=) c.1764A= (p.Pro588=) c.1860A= (p.Pro620=) c.1806A= (p.Pro602=) c.1767A= (p.Pro589=) | |
18 | g.33739288A>C | CA503768899 | ASXL3 | c.1887A>C (p.Pro629=) c.1884A>C (p.Pro628=) c.*1008A>C (n.*1008A>C) c.*1543A>C (n.*1543A>C) c.2096A>C (n.2096A>C) c.1716A>C (p.Pro572=) c.1764A>C (p.Pro588=) c.1860A>C (p.Pro620=) c.1806A>C (p.Pro602=) c.1767A>C (p.Pro589=) | |
18 | g.33739288A>G | CA503768900 | ASXL3 | c.1887A>G (p.Pro629=) c.1884A>G (p.Pro628=) c.*1008A>G (n.*1008A>G) c.*1543A>G (n.*1543A>G) c.2096A>G (n.2096A>G) c.1716A>G (p.Pro572=) c.1764A>G (p.Pro588=) c.1860A>G (p.Pro620=) c.1806A>G (p.Pro602=) c.1767A>G (p.Pro589=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.33739288A>T | CA503768901 | ASXL3 | c.1887A>T (p.Pro629=) c.1884A>T (p.Pro628=) c.*1008A>T (n.*1008A>T) c.*1543A>T (n.*1543A>T) c.2096A>T (n.2096A>T) c.1716A>T (p.Pro572=) c.1764A>T (p.Pro588=) c.1860A>T (p.Pro620=) c.1806A>T (p.Pro602=) c.1767A>T (p.Pro589=) | |
18 | g.33739288_33739289del | CA915951351 | ASXL3 | c.1887_1888del (p.Gly630ArgfsTer17) c.1884_1885del (p.Gly629ArgfsTer17) c.*1008_*1009del (n.*1008_*1009del) c.*1543_*1544del (n.*1543_*1544del) c.2096_2097del (n.2096_2097del) c.1716_1717del (p.Gly573ArgfsTer17) c.1764_1765del (p.Gly589ArgfsTer17) c.1860_1861del (p.Gly621ArgfsTer17) c.1806_1807del (p.Gly603ArgfsTer17) c.1767_1768del (p.Gly590ArgfsTer17) | ClinVar dbSNP |
18 | g.33739289G>A | CA402176751 | ASXL3 | c.1888G>A (p.Gly630Arg) c.1885G>A (p.Gly629Arg) c.*1009G>A (n.*1009G>A) c.*1544G>A (n.*1544G>A) c.2097G>A (n.2097G>A) c.1717G>A (p.Gly573Arg) c.1765G>A (p.Gly589Arg) c.1861G>A (p.Gly621Arg) c.1807G>A (p.Gly603Arg) c.1768G>A (p.Gly590Arg) | dbSNP gnomAD v4 |
18 | g.33739289G>C | CA402176752 | ASXL3 | c.1888G>C (p.Gly630Arg) c.1885G>C (p.Gly629Arg) c.*1009G>C (n.*1009G>C) c.*1544G>C (n.*1544G>C) c.2097G>C (n.2097G>C) c.1717G>C (p.Gly573Arg) c.1765G>C (p.Gly589Arg) c.1861G>C (p.Gly621Arg) c.1807G>C (p.Gly603Arg) c.1768G>C (p.Gly590Arg) | |
18 | g.33739289G= | CA2294855905 | ASXL3 | c.1888G= (p.Gly630=) c.1885G= (p.Gly629=) c.*1009G= (n.*1009G=) c.*1544G= (n.*1544G=) c.2097G= (n.2097G=) c.1717G= (p.Gly573=) c.1765G= (p.Gly589=) c.1861G= (p.Gly621=) c.1807G= (p.Gly603=) c.1768G= (p.Gly590=) | |
18 | g.33739289G>T | CA402176754 | ASXL3 | c.1888G>T (p.Gly630Ter) c.1885G>T (p.Gly629Ter) c.*1009G>T (n.*1009G>T) c.*1544G>T (n.*1544G>T) c.2097G>T (n.2097G>T) c.1717G>T (p.Gly573Ter) c.1765G>T (p.Gly589Ter) c.1861G>T (p.Gly621Ter) c.1807G>T (p.Gly603Ter) c.1768G>T (p.Gly590Ter) | |
18 | g.33739290G>A | CA402176756 | ASXL3 | c.1889G>A (p.Gly630Glu) c.1886G>A (p.Gly629Glu) c.*1010G>A (n.*1010G>A) c.*1545G>A (n.*1545G>A) c.2098G>A (n.2098G>A) c.1718G>A (p.Gly573Glu) c.1766G>A (p.Gly589Glu) c.1862G>A (p.Gly621Glu) c.1808G>A (p.Gly603Glu) c.1769G>A (p.Gly590Glu) | dbSNP |
18 | g.33739290G>C | CA402176765 | ASXL3 | c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) c.*1010G>C (n.*1010G>C) c.*1545G>C (n.*1545G>C) c.2098G>C (n.2098G>C) c.1718G>C (p.Gly573Ala) c.1766G>C (p.Gly589Ala) c.1862G>C (p.Gly621Ala) c.1808G>C (p.Gly603Ala) c.1769G>C (p.Gly590Ala) | |
18 | g.33739290G= | CA2294855906 | ASXL3 | c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) c.*1010G= (n.*1010G=) c.*1545G= (n.*1545G=) c.2098G= (n.2098G=) c.1718G= (p.Gly573=) c.1766G= (p.Gly589=) c.1862G= (p.Gly621=) c.1808G= (p.Gly603=) c.1769G= (p.Gly590=) | |
18 | g.33739290G>T | CA402176767 | ASXL3 | c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) c.*1010G>T (n.*1010G>T) c.*1545G>T (n.*1545G>T) c.2098G>T (n.2098G>T) c.1718G>T (p.Gly573Val) c.1766G>T (p.Gly589Val) c.1862G>T (p.Gly621Val) c.1808G>T (p.Gly603Val) c.1769G>T (p.Gly590Val) | |
18 | g.33739291A>C | CA503768905 | ASXL3 | c.1890A>C (p.Gly630=) c.1887A>C (p.Gly629=) c.*1011A>C (n.*1011A>C) c.*1546A>C (n.*1546A>C) c.2099A>C (n.2099A>C) c.1719A>C (p.Gly573=) c.1767A>C (p.Gly589=) c.1863A>C (p.Gly621=) c.1809A>C (p.Gly603=) c.1770A>C (p.Gly590=) | |
18 | g.33739291A>G | CA503768906 | ASXL3 | c.1890A>G (p.Gly630=) c.1887A>G (p.Gly629=) c.*1011A>G (n.*1011A>G) c.*1546A>G (n.*1546A>G) c.2099A>G (n.2099A>G) c.1719A>G (p.Gly573=) c.1767A>G (p.Gly589=) c.1863A>G (p.Gly621=) c.1809A>G (p.Gly603=) c.1770A>G (p.Gly590=) | |
18 | g.33739291A>T | CA503768907 | ASXL3 | c.1890A>T (p.Gly630=) c.1887A>T (p.Gly629=) c.*1011A>T (n.*1011A>T) c.*1546A>T (n.*1546A>T) c.2099A>T (n.2099A>T) c.1719A>T (p.Gly573=) c.1767A>T (p.Gly589=) c.1863A>T (p.Gly621=) c.1809A>T (p.Gly603=) c.1770A>T (p.Gly590=) | |
18 | g.33739292G>A | CA402176768 | ASXL3 | c.1891G>A (p.Gly631Arg) c.1888G>A (p.Gly630Arg) c.*1012G>A (n.*1012G>A) c.*1547G>A (n.*1547G>A) c.2100G>A (n.2100G>A) c.1720G>A (p.Gly574Arg) c.1768G>A (p.Gly590Arg) c.1864G>A (p.Gly622Arg) c.1810G>A (p.Gly604Arg) c.1771G>A (p.Gly591Arg) | |
18 | g.33739292G>C | CA402176769 | ASXL3 | c.1891G>C (p.Gly631Arg) c.1888G>C (p.Gly630Arg) c.*1012G>C (n.*1012G>C) c.*1547G>C (n.*1547G>C) c.2100G>C (n.2100G>C) c.1720G>C (p.Gly574Arg) c.1768G>C (p.Gly590Arg) c.1864G>C (p.Gly622Arg) c.1810G>C (p.Gly604Arg) c.1771G>C (p.Gly591Arg) | |
18 | g.33739292G>T | CA402176771 | ASXL3 | c.1891G>T (p.Gly631Trp) c.1888G>T (p.Gly630Trp) c.*1012G>T (n.*1012G>T) c.*1547G>T (n.*1547G>T) c.2100G>T (n.2100G>T) c.1720G>T (p.Gly574Trp) c.1768G>T (p.Gly590Trp) c.1864G>T (p.Gly622Trp) c.1810G>T (p.Gly604Trp) c.1771G>T (p.Gly591Trp) | |
18 | g.33739293G>A | CA402176773 | ASXL3 | c.1892G>A (p.Gly631Glu) c.1889G>A (p.Gly630Glu) c.*1013G>A (n.*1013G>A) c.*1548G>A (n.*1548G>A) c.2101G>A (n.2101G>A) c.1721G>A (p.Gly574Glu) c.1769G>A (p.Gly590Glu) c.1865G>A (p.Gly622Glu) c.1811G>A (p.Gly604Glu) c.1772G>A (p.Gly591Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.33739293G>C | CA402176775 | ASXL3 | c.1892G>C (p.Gly631Ala) c.1889G>C (p.Gly630Ala) c.*1013G>C (n.*1013G>C) c.*1548G>C (n.*1548G>C) c.2101G>C (n.2101G>C) c.1721G>C (p.Gly574Ala) c.1769G>C (p.Gly590Ala) c.1865G>C (p.Gly622Ala) c.1811G>C (p.Gly604Ala) c.1772G>C (p.Gly591Ala) | |
18 | g.33739293G= | CA2294855907 | ASXL3 | c.1892G= (p.Gly631=) c.1889G= (p.Gly630=) c.*1013G= (n.*1013G=) c.*1548G= (n.*1548G=) c.2101G= (n.2101G=) c.1721G= (p.Gly574=) c.1769G= (p.Gly590=) c.1865G= (p.Gly622=) c.1811G= (p.Gly604=) c.1772G= (p.Gly591=) | |
18 | g.33739293G>T | CA402176777 | ASXL3 | c.1892G>T (p.Gly631Val) c.1889G>T (p.Gly630Val) c.*1013G>T (n.*1013G>T) c.*1548G>T (n.*1548G>T) c.2101G>T (n.2101G>T) c.1721G>T (p.Gly574Val) c.1769G>T (p.Gly590Val) c.1865G>T (p.Gly622Val) c.1811G>T (p.Gly604Val) c.1772G>T (p.Gly591Val) | dbSNP |
18 | g.33739294G>A | CA8933829 | ASXL3 | c.1893G>A (p.Gly631=) c.1890G>A (p.Gly630=) c.*1014G>A (n.*1014G>A) c.*1549G>A (n.*1549G>A) c.2102G>A (n.2102G>A) c.1722G>A (p.Gly574=) c.1770G>A (p.Gly590=) c.1866G>A (p.Gly622=) c.1812G>A (p.Gly604=) c.1773G>A (p.Gly591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739294G>C | CA503768908 | ASXL3 | c.1893G>C (p.Gly631=) c.1890G>C (p.Gly630=) c.*1014G>C (n.*1014G>C) c.*1549G>C (n.*1549G>C) c.2102G>C (n.2102G>C) c.1722G>C (p.Gly574=) c.1770G>C (p.Gly590=) c.1866G>C (p.Gly622=) c.1812G>C (p.Gly604=) c.1773G>C (p.Gly591=) | |
18 | g.33739294G= | CA2294855908 | ASXL3 | c.1893G= (p.Gly631=) c.1890G= (p.Gly630=) c.*1014G= (n.*1014G=) c.*1549G= (n.*1549G=) c.2102G= (n.2102G=) c.1722G= (p.Gly574=) c.1770G= (p.Gly590=) c.1866G= (p.Gly622=) c.1812G= (p.Gly604=) c.1773G= (p.Gly591=) | |
18 | g.33739294G>T | CA503768910 | ASXL3 | c.1893G>T (p.Gly631=) c.1890G>T (p.Gly630=) c.*1014G>T (n.*1014G>T) c.*1549G>T (n.*1549G>T) c.2102G>T (n.2102G>T) c.1722G>T (p.Gly574=) c.1770G>T (p.Gly590=) c.1866G>T (p.Gly622=) c.1812G>T (p.Gly604=) c.1773G>T (p.Gly591=) | |
18 | g.33739295G>A | CA402176782 | ASXL3 | c.1894G>A (p.Glu632Lys) c.1891G>A (p.Glu631Lys) c.*1015G>A (n.*1015G>A) c.*1550G>A (n.*1550G>A) c.2103G>A (n.2103G>A) c.1723G>A (p.Glu575Lys) c.1771G>A (p.Glu591Lys) c.1867G>A (p.Glu623Lys) c.1813G>A (p.Glu605Lys) c.1774G>A (p.Glu592Lys) | |
18 | g.33739295G>C | CA402176781 | ASXL3 | c.1894G>C (p.Glu632Gln) c.1891G>C (p.Glu631Gln) c.*1015G>C (n.*1015G>C) c.*1550G>C (n.*1550G>C) c.2103G>C (n.2103G>C) c.1723G>C (p.Glu575Gln) c.1771G>C (p.Glu591Gln) c.1867G>C (p.Glu623Gln) c.1813G>C (p.Glu605Gln) c.1774G>C (p.Glu592Gln) | |
18 | g.33739295G>T | CA402176783 | ASXL3 | c.1894G>T (p.Glu632Ter) c.1891G>T (p.Glu631Ter) c.*1015G>T (n.*1015G>T) c.*1550G>T (n.*1550G>T) c.2103G>T (n.2103G>T) c.1723G>T (p.Glu575Ter) c.1771G>T (p.Glu591Ter) c.1867G>T (p.Glu623Ter) c.1813G>T (p.Glu605Ter) c.1774G>T (p.Glu592Ter) | |
18 | g.33739296A= | CA2294855909 | ASXL3 | c.1895A= (p.Glu632=) c.1892A= (p.Glu631=) c.*1016A= (n.*1016A=) c.*1551A= (n.*1551A=) c.2104A= (n.2104A=) c.1724A= (p.Glu575=) c.1772A= (p.Glu591=) c.1868A= (p.Glu623=) c.1814A= (p.Glu605=) c.1775A= (p.Glu592=) | |
18 | g.33739296A>C | CA402176785 | ASXL3 | c.1895A>C (p.Glu632Ala) c.1892A>C (p.Glu631Ala) c.*1016A>C (n.*1016A>C) c.*1551A>C (n.*1551A>C) c.2104A>C (n.2104A>C) c.1724A>C (p.Glu575Ala) c.1772A>C (p.Glu591Ala) c.1868A>C (p.Glu623Ala) c.1814A>C (p.Glu605Ala) c.1775A>C (p.Glu592Ala) | |
18 | g.33739296A>G | CA402176788 | ASXL3 | c.1895A>G (p.Glu632Gly) c.1892A>G (p.Glu631Gly) c.*1016A>G (n.*1016A>G) c.*1551A>G (n.*1551A>G) c.2104A>G (n.2104A>G) c.1724A>G (p.Glu575Gly) c.1772A>G (p.Glu591Gly) c.1868A>G (p.Glu623Gly) c.1814A>G (p.Glu605Gly) c.1775A>G (p.Glu592Gly) | |
18 | g.33739296A>T | CA402176787 | ASXL3 | c.1895A>T (p.Glu632Val) c.1892A>T (p.Glu631Val) c.*1016A>T (n.*1016A>T) c.*1551A>T (n.*1551A>T) c.2104A>T (n.2104A>T) c.1724A>T (p.Glu575Val) c.1772A>T (p.Glu591Val) c.1868A>T (p.Glu623Val) c.1814A>T (p.Glu605Val) c.1775A>T (p.Glu592Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739297A>C | CA402176791 | ASXL3 | c.1896A>C (p.Glu632Asp) c.1893A>C (p.Glu631Asp) c.*1017A>C (n.*1017A>C) c.*1552A>C (n.*1552A>C) c.2105A>C (n.2105A>C) c.1725A>C (p.Glu575Asp) c.1773A>C (p.Glu591Asp) c.1869A>C (p.Glu623Asp) c.1815A>C (p.Glu605Asp) c.1776A>C (p.Glu592Asp) | |
18 | g.33739297A>G | CA503768911 | ASXL3 | c.1896A>G (p.Glu632=) c.1893A>G (p.Glu631=) c.*1017A>G (n.*1017A>G) c.*1552A>G (n.*1552A>G) c.2105A>G (n.2105A>G) c.1725A>G (p.Glu575=) c.1773A>G (p.Glu591=) c.1869A>G (p.Glu623=) c.1815A>G (p.Glu605=) c.1776A>G (p.Glu592=) | |
18 | g.33739297A>T | CA402176793 | ASXL3 | c.1896A>T (p.Glu632Asp) c.1893A>T (p.Glu631Asp) c.*1017A>T (n.*1017A>T) c.*1552A>T (n.*1552A>T) c.2105A>T (n.2105A>T) c.1725A>T (p.Glu575Asp) c.1773A>T (p.Glu591Asp) c.1869A>T (p.Glu623Asp) c.1815A>T (p.Glu605Asp) c.1776A>T (p.Glu592Asp) | |
18 | g.33739298A>C | CA402176795 | ASXL3 | c.1897A>C (p.Thr633Pro) c.1894A>C (p.Thr632Pro) c.*1018A>C (n.*1018A>C) c.*1553A>C (n.*1553A>C) c.2106A>C (n.2106A>C) c.1726A>C (p.Thr576Pro) c.1774A>C (p.Thr592Pro) c.1870A>C (p.Thr624Pro) c.1816A>C (p.Thr606Pro) c.1777A>C (p.Thr593Pro) | |
18 | g.33739298A>G | CA402176796 | ASXL3 | c.1897A>G (p.Thr633Ala) c.1894A>G (p.Thr632Ala) c.*1018A>G (n.*1018A>G) c.*1553A>G (n.*1553A>G) c.2106A>G (n.2106A>G) c.1726A>G (p.Thr576Ala) c.1774A>G (p.Thr592Ala) c.1870A>G (p.Thr624Ala) c.1816A>G (p.Thr606Ala) c.1777A>G (p.Thr593Ala) | |
18 | g.33739298A>T | CA402176803 | ASXL3 | c.1897A>T (p.Thr633Ser) c.1894A>T (p.Thr632Ser) c.*1018A>T (n.*1018A>T) c.*1553A>T (n.*1553A>T) c.2106A>T (n.2106A>T) c.1726A>T (p.Thr576Ser) c.1774A>T (p.Thr592Ser) c.1870A>T (p.Thr624Ser) c.1816A>T (p.Thr606Ser) c.1777A>T (p.Thr593Ser) | |
18 | g.33739301_33739302del | CA2580612976 | ASXL3 | c.1900_1901del (p.Gln634ValfsTer13) c.1897_1898del (p.Gln633ValfsTer13) c.*1021_*1022del (n.*1021_*1022del) c.*1556_*1557del (n.*1556_*1557del) c.2109_2110del (n.2109_2110del) c.1729_1730del (p.Gln577ValfsTer13) c.1777_1778del (p.Gln593ValfsTer13) c.1873_1874del (p.Gln625ValfsTer13) c.1819_1820del (p.Gln607ValfsTer13) c.1780_1781del (p.Gln594ValfsTer13) | ClinVar |
18 | g.33739299C>A | CA402176807 | ASXL3 | c.1898C>A (p.Thr633Lys) c.1895C>A (p.Thr632Lys) c.*1019C>A (n.*1019C>A) c.*1554C>A (n.*1554C>A) c.2107C>A (n.2107C>A) c.1727C>A (p.Thr576Lys) c.1775C>A (p.Thr592Lys) c.1871C>A (p.Thr624Lys) c.1817C>A (p.Thr606Lys) c.1778C>A (p.Thr593Lys) | |
18 | g.33739299C= | CA2294855910 | ASXL3 | c.1898C= (p.Thr633=) c.1895C= (p.Thr632=) c.*1019C= (n.*1019C=) c.*1554C= (n.*1554C=) c.2107C= (n.2107C=) c.1727C= (p.Thr576=) c.1775C= (p.Thr592=) c.1871C= (p.Thr624=) c.1817C= (p.Thr606=) c.1778C= (p.Thr593=) | |
18 | g.33739299C>G | CA402176809 | ASXL3 | c.1898C>G (p.Thr633Arg) c.1895C>G (p.Thr632Arg) c.*1019C>G (n.*1019C>G) c.*1554C>G (n.*1554C>G) c.2107C>G (n.2107C>G) c.1727C>G (p.Thr576Arg) c.1775C>G (p.Thr592Arg) c.1871C>G (p.Thr624Arg) c.1817C>G (p.Thr606Arg) c.1778C>G (p.Thr593Arg) | |
18 | g.33739299C>T | CA8933830 | ASXL3 | c.1898C>T (p.Thr633Ile) c.1895C>T (p.Thr632Ile) c.*1019C>T (n.*1019C>T) c.*1554C>T (n.*1554C>T) c.2107C>T (n.2107C>T) c.1727C>T (p.Thr576Ile) c.1775C>T (p.Thr592Ile) c.1871C>T (p.Thr624Ile) c.1817C>T (p.Thr606Ile) c.1778C>T (p.Thr593Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739299dup | CA2695227382 | ASXL3 | c.1898dup (p.Gln634ThrfsTer14) c.1895dup (p.Gln633ThrfsTer14) c.*1019dup (n.*1019dup) c.*1554dup (n.*1554dup) c.2107dup (n.2107dup) c.1727dup (p.Gln577ThrfsTer14) c.1775dup (p.Gln593ThrfsTer14) c.1871dup (p.Gln625ThrfsTer14) c.1817dup (p.Gln607ThrfsTer14) c.1778dup (p.Gln594ThrfsTer14) | |
18 | g.33739300A>C | CA503768912 | ASXL3 | c.1899A>C (p.Thr633=) c.1896A>C (p.Thr632=) c.*1020A>C (n.*1020A>C) c.*1555A>C (n.*1555A>C) c.2108A>C (n.2108A>C) c.1728A>C (p.Thr576=) c.1776A>C (p.Thr592=) c.1872A>C (p.Thr624=) c.1818A>C (p.Thr606=) c.1779A>C (p.Thr593=) | |
18 | g.33739300A>G | CA503768914 | ASXL3 | c.1899A>G (p.Thr633=) c.1896A>G (p.Thr632=) c.*1020A>G (n.*1020A>G) c.*1555A>G (n.*1555A>G) c.2108A>G (n.2108A>G) c.1728A>G (p.Thr576=) c.1776A>G (p.Thr592=) c.1872A>G (p.Thr624=) c.1818A>G (p.Thr606=) c.1779A>G (p.Thr593=) | gnomAD v4 |
18 | g.33739300A>T | CA503768913 | ASXL3 | c.1899A>T (p.Thr633=) c.1896A>T (p.Thr632=) c.*1020A>T (n.*1020A>T) c.*1555A>T (n.*1555A>T) c.2108A>T (n.2108A>T) c.1728A>T (p.Thr576=) c.1776A>T (p.Thr592=) c.1872A>T (p.Thr624=) c.1818A>T (p.Thr606=) c.1779A>T (p.Thr593=) | |
18 | g.33739301C>A | CA402176813 | ASXL3 | c.1900C>A (p.Gln634Lys) c.1897C>A (p.Gln633Lys) c.*1021C>A (n.*1021C>A) c.*1556C>A (n.*1556C>A) c.2109C>A (n.2109C>A) c.1729C>A (p.Gln577Lys) c.1777C>A (p.Gln593Lys) c.1873C>A (p.Gln625Lys) c.1819C>A (p.Gln607Lys) c.1780C>A (p.Gln594Lys) | |
18 | g.33739301C= | CA2294855911 | ASXL3 | c.1900C= (p.Gln634=) c.1897C= (p.Gln633=) c.*1021C= (n.*1021C=) c.*1556C= (n.*1556C=) c.2109C= (n.2109C=) c.1729C= (p.Gln577=) c.1777C= (p.Gln593=) c.1873C= (p.Gln625=) c.1819C= (p.Gln607=) c.1780C= (p.Gln594=) | |
18 | g.33739301C>G | CA402176815 | ASXL3 | c.1900C>G (p.Gln634Glu) c.1897C>G (p.Gln633Glu) c.*1021C>G (n.*1021C>G) c.*1556C>G (n.*1556C>G) c.2109C>G (n.2109C>G) c.1729C>G (p.Gln577Glu) c.1777C>G (p.Gln593Glu) c.1873C>G (p.Gln625Glu) c.1819C>G (p.Gln607Glu) c.1780C>G (p.Gln594Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739301C>T | CA402176818 | ASXL3 | c.1900C>T (p.Gln634Ter) c.1897C>T (p.Gln633Ter) c.*1021C>T (n.*1021C>T) c.*1556C>T (n.*1556C>T) c.2109C>T (n.2109C>T) c.1729C>T (p.Gln577Ter) c.1777C>T (p.Gln593Ter) c.1873C>T (p.Gln625Ter) c.1819C>T (p.Gln607Ter) c.1780C>T (p.Gln594Ter) | |
18 | g.33739302A= | CA2294855912 | ASXL3 | c.1901A= (p.Gln634=) c.1898A= (p.Gln633=) c.*1022A= (n.*1022A=) c.*1557A= (n.*1557A=) c.2110A= (n.2110A=) c.1730A= (p.Gln577=) c.1778A= (p.Gln593=) c.1874A= (p.Gln625=) c.1820A= (p.Gln607=) c.1781A= (p.Gln594=) | |
18 | g.33739302A>C | CA402176824 | ASXL3 | c.1901A>C (p.Gln634Pro) c.1898A>C (p.Gln633Pro) c.*1022A>C (n.*1022A>C) c.*1557A>C (n.*1557A>C) c.2110A>C (n.2110A>C) c.1730A>C (p.Gln577Pro) c.1778A>C (p.Gln593Pro) c.1874A>C (p.Gln625Pro) c.1820A>C (p.Gln607Pro) c.1781A>C (p.Gln594Pro) | |
18 | g.33739302A>G | CA402176821 | ASXL3 | c.1901A>G (p.Gln634Arg) c.1898A>G (p.Gln633Arg) c.*1022A>G (n.*1022A>G) c.*1557A>G (n.*1557A>G) c.2110A>G (n.2110A>G) c.1730A>G (p.Gln577Arg) c.1778A>G (p.Gln593Arg) c.1874A>G (p.Gln625Arg) c.1820A>G (p.Gln607Arg) c.1781A>G (p.Gln594Arg) | |
18 | g.33739302A>T | CA8933831 | ASXL3 | c.1901A>T (p.Gln634Leu) c.1898A>T (p.Gln633Leu) c.*1022A>T (n.*1022A>T) c.*1557A>T (n.*1557A>T) c.2110A>T (n.2110A>T) c.1730A>T (p.Gln577Leu) c.1778A>T (p.Gln593Leu) c.1874A>T (p.Gln625Leu) c.1820A>T (p.Gln607Leu) c.1781A>T (p.Gln594Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739303G>A | CA503768915 | ASXL3 | c.1902G>A (p.Gln634=) c.1899G>A (p.Gln633=) c.*1023G>A (n.*1023G>A) c.*1558G>A (n.*1558G>A) c.2111G>A (n.2111G>A) c.1731G>A (p.Gln577=) c.1779G>A (p.Gln593=) c.1875G>A (p.Gln625=) c.1821G>A (p.Gln607=) c.1782G>A (p.Gln594=) | dbSNP |
18 | g.33739303G>C | CA402176826 | ASXL3 | c.1902G>C (p.Gln634His) c.1899G>C (p.Gln633His) c.*1023G>C (n.*1023G>C) c.*1558G>C (n.*1558G>C) c.2111G>C (n.2111G>C) c.1731G>C (p.Gln577His) c.1779G>C (p.Gln593His) c.1875G>C (p.Gln625His) c.1821G>C (p.Gln607His) c.1782G>C (p.Gln594His) | |
18 | g.33739303G= | CA2294855913 | ASXL3 | c.1902G= (p.Gln634=) c.1899G= (p.Gln633=) c.*1023G= (n.*1023G=) c.*1558G= (n.*1558G=) c.2111G= (n.2111G=) c.1731G= (p.Gln577=) c.1779G= (p.Gln593=) c.1875G= (p.Gln625=) c.1821G= (p.Gln607=) c.1782G= (p.Gln594=) | |
18 | g.33739303G>T | CA402176828 | ASXL3 | c.1902G>T (p.Gln634His) c.1899G>T (p.Gln633His) c.*1023G>T (n.*1023G>T) c.*1558G>T (n.*1558G>T) c.2111G>T (n.2111G>T) c.1731G>T (p.Gln577His) c.1779G>T (p.Gln593His) c.1875G>T (p.Gln625His) c.1821G>T (p.Gln607His) c.1782G>T (p.Gln594His) | |
18 | g.33739304T>A | CA402176832 | ASXL3 | c.1903T>A (p.Ser635Thr) c.1900T>A (p.Ser634Thr) c.*1024T>A (n.*1024T>A) c.*1559T>A (n.*1559T>A) c.2112T>A (n.2112T>A) c.1732T>A (p.Ser578Thr) c.1780T>A (p.Ser594Thr) c.1876T>A (p.Ser626Thr) c.1822T>A (p.Ser608Thr) c.1783T>A (p.Ser595Thr) | dbSNP gnomAD v2 |
18 | g.33739304T>C | CA402176834 | ASXL3 | c.1903T>C (p.Ser635Pro) c.1900T>C (p.Ser634Pro) c.*1024T>C (n.*1024T>C) c.*1559T>C (n.*1559T>C) c.2112T>C (n.2112T>C) c.1732T>C (p.Ser578Pro) c.1780T>C (p.Ser594Pro) c.1876T>C (p.Ser626Pro) c.1822T>C (p.Ser608Pro) c.1783T>C (p.Ser595Pro) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739304T>G | CA402176836 | ASXL3 | c.1903T>G (p.Ser635Ala) c.1900T>G (p.Ser634Ala) c.*1024T>G (n.*1024T>G) c.*1559T>G (n.*1559T>G) c.2112T>G (n.2112T>G) c.1732T>G (p.Ser578Ala) c.1780T>G (p.Ser594Ala) c.1876T>G (p.Ser626Ala) c.1822T>G (p.Ser608Ala) c.1783T>G (p.Ser595Ala) | |
18 | g.33739304T= | CA2294855914 | ASXL3 | c.1903T= (p.Ser635=) c.1900T= (p.Ser634=) c.*1024T= (n.*1024T=) c.*1559T= (n.*1559T=) c.2112T= (n.2112T=) c.1732T= (p.Ser578=) c.1780T= (p.Ser594=) c.1876T= (p.Ser626=) c.1822T= (p.Ser608=) c.1783T= (p.Ser595=) | |
18 | g.33739305C>A | CA402176839 | ASXL3 | c.1904C>A (p.Ser635Tyr) c.1901C>A (p.Ser634Tyr) c.*1025C>A (n.*1025C>A) c.*1560C>A (n.*1560C>A) c.2113C>A (n.2113C>A) c.1733C>A (p.Ser578Tyr) c.1781C>A (p.Ser594Tyr) c.1877C>A (p.Ser626Tyr) c.1823C>A (p.Ser608Tyr) c.1784C>A (p.Ser595Tyr) | |
18 | g.33739305C>G | CA402176841 | ASXL3 | c.1904C>G (p.Ser635Cys) c.1901C>G (p.Ser634Cys) c.*1025C>G (n.*1025C>G) c.*1560C>G (n.*1560C>G) c.2113C>G (n.2113C>G) c.1733C>G (p.Ser578Cys) c.1781C>G (p.Ser594Cys) c.1877C>G (p.Ser626Cys) c.1823C>G (p.Ser608Cys) c.1784C>G (p.Ser595Cys) | |
18 | g.33739305C>T | CA402176844 | ASXL3 | c.1904C>T (p.Ser635Phe) c.1901C>T (p.Ser634Phe) c.*1025C>T (n.*1025C>T) c.*1560C>T (n.*1560C>T) c.2113C>T (n.2113C>T) c.1733C>T (p.Ser578Phe) c.1781C>T (p.Ser594Phe) c.1877C>T (p.Ser626Phe) c.1823C>T (p.Ser608Phe) c.1784C>T (p.Ser595Phe) | |
18 | g.33739306C>A | CA503768916 | ASXL3 | c.1905C>A (p.Ser635=) c.1902C>A (p.Ser634=) c.*1026C>A (n.*1026C>A) c.*1561C>A (n.*1561C>A) c.2114C>A (n.2114C>A) c.1734C>A (p.Ser578=) c.1782C>A (p.Ser594=) c.1878C>A (p.Ser626=) c.1824C>A (p.Ser608=) c.1785C>A (p.Ser595=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739306C= | CA2294855915 | ASXL3 | c.1905C= (p.Ser635=) c.1902C= (p.Ser634=) c.*1026C= (n.*1026C=) c.*1561C= (n.*1561C=) c.2114C= (n.2114C=) c.1734C= (p.Ser578=) c.1782C= (p.Ser594=) c.1878C= (p.Ser626=) c.1824C= (p.Ser608=) c.1785C= (p.Ser595=) | |
18 | g.33739306C>G | CA503768917 | ASXL3 | c.1905C>G (p.Ser635=) c.1902C>G (p.Ser634=) c.*1026C>G (n.*1026C>G) c.*1561C>G (n.*1561C>G) c.2114C>G (n.2114C>G) c.1734C>G (p.Ser578=) c.1782C>G (p.Ser594=) c.1878C>G (p.Ser626=) c.1824C>G (p.Ser608=) c.1785C>G (p.Ser595=) | gnomAD v4 |
18 | g.33739306C>T | CA503768918 | ASXL3 | c.1905C>T (p.Ser635=) c.1902C>T (p.Ser634=) c.*1026C>T (n.*1026C>T) c.*1561C>T (n.*1561C>T) c.2114C>T (n.2114C>T) c.1734C>T (p.Ser578=) c.1782C>T (p.Ser594=) c.1878C>T (p.Ser626=) c.1824C>T (p.Ser608=) c.1785C>T (p.Ser595=) | COSMIC COSMIC |
18 | g.33739307A>C | CA402176847 | ASXL3 | c.1906A>C (p.Thr636Pro) c.1903A>C (p.Thr635Pro) c.*1027A>C (n.*1027A>C) c.*1562A>C (n.*1562A>C) c.2115A>C (n.2115A>C) c.1735A>C (p.Thr579Pro) c.1783A>C (p.Thr595Pro) c.1879A>C (p.Thr627Pro) c.1825A>C (p.Thr609Pro) c.1786A>C (p.Thr596Pro) | ClinVar |
18 | g.33739307A>G | CA402176848 | ASXL3 | c.1906A>G (p.Thr636Ala) c.1903A>G (p.Thr635Ala) c.*1027A>G (n.*1027A>G) c.*1562A>G (n.*1562A>G) c.2115A>G (n.2115A>G) c.1735A>G (p.Thr579Ala) c.1783A>G (p.Thr595Ala) c.1879A>G (p.Thr627Ala) c.1825A>G (p.Thr609Ala) c.1786A>G (p.Thr596Ala) | gnomAD v4 |
18 | g.33739307A>T | CA402176849 | ASXL3 | c.1906A>T (p.Thr636Ser) c.1903A>T (p.Thr635Ser) c.*1027A>T (n.*1027A>T) c.*1562A>T (n.*1562A>T) c.2115A>T (n.2115A>T) c.1735A>T (p.Thr579Ser) c.1783A>T (p.Thr595Ser) c.1879A>T (p.Thr627Ser) c.1825A>T (p.Thr609Ser) c.1786A>T (p.Thr596Ser) | |
18 | g.33739308C>A | CA402176851 | ASXL3 | c.1907C>A (p.Thr636Lys) c.1904C>A (p.Thr635Lys) c.*1028C>A (n.*1028C>A) c.*1563C>A (n.*1563C>A) c.2116C>A (n.2116C>A) c.1736C>A (p.Thr579Lys) c.1784C>A (p.Thr595Lys) c.1880C>A (p.Thr627Lys) c.1826C>A (p.Thr609Lys) c.1787C>A (p.Thr596Lys) | |
18 | g.33739308C= | CA2294855916 | ASXL3 | c.1907C= (p.Thr636=) c.1904C= (p.Thr635=) c.*1028C= (n.*1028C=) c.*1563C= (n.*1563C=) c.2116C= (n.2116C=) c.1736C= (p.Thr579=) c.1784C= (p.Thr595=) c.1880C= (p.Thr627=) c.1826C= (p.Thr609=) c.1787C= (p.Thr596=) | |
18 | g.33739308C>G | CA402176852 | ASXL3 | c.1907C>G (p.Thr636Arg) c.1904C>G (p.Thr635Arg) c.*1028C>G (n.*1028C>G) c.*1563C>G (n.*1563C>G) c.2116C>G (n.2116C>G) c.1736C>G (p.Thr579Arg) c.1784C>G (p.Thr595Arg) c.1880C>G (p.Thr627Arg) c.1826C>G (p.Thr609Arg) c.1787C>G (p.Thr596Arg) | |
18 | g.33739308C>T | CA8933832 | ASXL3 | c.1907C>T (p.Thr636Ile) c.1904C>T (p.Thr635Ile) c.*1028C>T (n.*1028C>T) c.*1563C>T (n.*1563C>T) c.2116C>T (n.2116C>T) c.1736C>T (p.Thr579Ile) c.1784C>T (p.Thr595Ile) c.1880C>T (p.Thr627Ile) c.1826C>T (p.Thr609Ile) c.1787C>T (p.Thr596Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739309A>C | CA503768920 | ASXL3 | c.1908A>C (p.Thr636=) c.1905A>C (p.Thr635=) c.*1029A>C (n.*1029A>C) c.*1564A>C (n.*1564A>C) c.2117A>C (n.2117A>C) c.1737A>C (p.Thr579=) c.1785A>C (p.Thr595=) c.1881A>C (p.Thr627=) c.1827A>C (p.Thr609=) c.1788A>C (p.Thr596=) | |
18 | g.33739309A>G | CA503768922 | ASXL3 | c.1908A>G (p.Thr636=) c.1905A>G (p.Thr635=) c.*1029A>G (n.*1029A>G) c.*1564A>G (n.*1564A>G) c.2117A>G (n.2117A>G) c.1737A>G (p.Thr579=) c.1785A>G (p.Thr595=) c.1881A>G (p.Thr627=) c.1827A>G (p.Thr609=) c.1788A>G (p.Thr596=) | |
18 | g.33739309A>T | CA503768919 | ASXL3 | c.1908A>T (p.Thr636=) c.1905A>T (p.Thr635=) c.*1029A>T (n.*1029A>T) c.*1564A>T (n.*1564A>T) c.2117A>T (n.2117A>T) c.1737A>T (p.Thr579=) c.1785A>T (p.Thr595=) c.1881A>T (p.Thr627=) c.1827A>T (p.Thr609=) c.1788A>T (p.Thr596=) | |
18 | g.33739310T>A | CA402176853 | ASXL3 | c.1909T>A (p.Ser637Thr) c.1906T>A (p.Ser636Thr) c.*1030T>A (n.*1030T>A) c.*1565T>A (n.*1565T>A) c.2118T>A (n.2118T>A) c.1738T>A (p.Ser580Thr) c.1786T>A (p.Ser596Thr) c.1882T>A (p.Ser628Thr) c.1828T>A (p.Ser610Thr) c.1789T>A (p.Ser597Thr) | |
18 | g.33739310T>C | CA402176854 | ASXL3 | c.1909T>C (p.Ser637Pro) c.1906T>C (p.Ser636Pro) c.*1030T>C (n.*1030T>C) c.*1565T>C (n.*1565T>C) c.2118T>C (n.2118T>C) c.1738T>C (p.Ser580Pro) c.1786T>C (p.Ser596Pro) c.1882T>C (p.Ser628Pro) c.1828T>C (p.Ser610Pro) c.1789T>C (p.Ser597Pro) | |
18 | g.33739310T>G | CA402176855 | ASXL3 | c.1909T>G (p.Ser637Ala) c.1906T>G (p.Ser636Ala) c.*1030T>G (n.*1030T>G) c.*1565T>G (n.*1565T>G) c.2118T>G (n.2118T>G) c.1738T>G (p.Ser580Ala) c.1786T>G (p.Ser596Ala) c.1882T>G (p.Ser628Ala) c.1828T>G (p.Ser610Ala) c.1789T>G (p.Ser597Ala) | |
18 | g.33739311C>A | CA402176856 | ASXL3 | c.1910C>A (p.Ser637Ter) c.1907C>A (p.Ser636Ter) c.*1031C>A (n.*1031C>A) c.*1566C>A (n.*1566C>A) c.2119C>A (n.2119C>A) c.1739C>A (p.Ser580Ter) c.1787C>A (p.Ser596Ter) c.1883C>A (p.Ser628Ter) c.1829C>A (p.Ser610Ter) c.1790C>A (p.Ser597Ter) | |
18 | g.33739311C= | CA2294855917 | ASXL3 | c.1910C= (p.Ser637=) c.1907C= (p.Ser636=) c.*1031C= (n.*1031C=) c.*1566C= (n.*1566C=) c.2119C= (n.2119C=) c.1739C= (p.Ser580=) c.1787C= (p.Ser596=) c.1883C= (p.Ser628=) c.1829C= (p.Ser610=) c.1790C= (p.Ser597=) | |
18 | g.33739311C>G | CA402176857 | ASXL3 | c.1910C>G (p.Ser637Ter) c.1907C>G (p.Ser636Ter) c.*1031C>G (n.*1031C>G) c.*1566C>G (n.*1566C>G) c.2119C>G (n.2119C>G) c.1739C>G (p.Ser580Ter) c.1787C>G (p.Ser596Ter) c.1883C>G (p.Ser628Ter) c.1829C>G (p.Ser610Ter) c.1790C>G (p.Ser597Ter) | |
18 | g.33739311C>T | CA402176858 | ASXL3 | c.1910C>T (p.Ser637Leu) c.1907C>T (p.Ser636Leu) c.*1031C>T (n.*1031C>T) c.*1566C>T (n.*1566C>T) c.2119C>T (n.2119C>T) c.1739C>T (p.Ser580Leu) c.1787C>T (p.Ser596Leu) c.1883C>T (p.Ser628Leu) c.1829C>T (p.Ser610Leu) c.1790C>T (p.Ser597Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739312A>C | CA503768924 | ASXL3 | c.1911A>C (p.Ser637=) c.1908A>C (p.Ser636=) c.*1032A>C (n.*1032A>C) c.*1567A>C (n.*1567A>C) c.2120A>C (n.2120A>C) c.1740A>C (p.Ser580=) c.1788A>C (p.Ser596=) c.1884A>C (p.Ser628=) c.1830A>C (p.Ser610=) c.1791A>C (p.Ser597=) | |
18 | g.33739312A>G | CA503768925 | ASXL3 | c.1911A>G (p.Ser637=) c.1908A>G (p.Ser636=) c.*1032A>G (n.*1032A>G) c.*1567A>G (n.*1567A>G) c.2120A>G (n.2120A>G) c.1740A>G (p.Ser580=) c.1788A>G (p.Ser596=) c.1884A>G (p.Ser628=) c.1830A>G (p.Ser610=) c.1791A>G (p.Ser597=) | gnomAD v4 |
18 | g.33739312A>T | CA503768926 | ASXL3 | c.1911A>T (p.Ser637=) c.1908A>T (p.Ser636=) c.*1032A>T (n.*1032A>T) c.*1567A>T (n.*1567A>T) c.2120A>T (n.2120A>T) c.1740A>T (p.Ser580=) c.1788A>T (p.Ser596=) c.1884A>T (p.Ser628=) c.1830A>T (p.Ser610=) c.1791A>T (p.Ser597=) | |
18 | g.33739313G>A | CA402176861 | ASXL3 | c.1912G>A (p.Glu638Lys) c.1909G>A (p.Glu637Lys) c.*1033G>A (n.*1033G>A) c.*1568G>A (n.*1568G>A) c.2121G>A (n.2121G>A) c.1741G>A (p.Glu581Lys) c.1789G>A (p.Glu597Lys) c.1885G>A (p.Glu629Lys) c.1831G>A (p.Glu611Lys) c.1792G>A (p.Glu598Lys) | |
18 | g.33739313G>C | CA402176859 | ASXL3 | c.1912G>C (p.Glu638Gln) c.1909G>C (p.Glu637Gln) c.*1033G>C (n.*1033G>C) c.*1568G>C (n.*1568G>C) c.2121G>C (n.2121G>C) c.1741G>C (p.Glu581Gln) c.1789G>C (p.Glu597Gln) c.1885G>C (p.Glu629Gln) c.1831G>C (p.Glu611Gln) c.1792G>C (p.Glu598Gln) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739313G= | CA2294855918 | ASXL3 | c.1912G= (p.Glu638=) c.1909G= (p.Glu637=) c.*1033G= (n.*1033G=) c.*1568G= (n.*1568G=) c.2121G= (n.2121G=) c.1741G= (p.Glu581=) c.1789G= (p.Glu597=) c.1885G= (p.Glu629=) c.1831G= (p.Glu611=) c.1792G= (p.Glu598=) | |
18 | g.33739313G>T | CA402176860 | ASXL3 | c.1912G>T (p.Glu638Ter) c.1909G>T (p.Glu637Ter) c.*1033G>T (n.*1033G>T) c.*1568G>T (n.*1568G>T) c.2121G>T (n.2121G>T) c.1741G>T (p.Glu581Ter) c.1789G>T (p.Glu597Ter) c.1885G>T (p.Glu629Ter) c.1831G>T (p.Glu611Ter) c.1792G>T (p.Glu598Ter) | |
18 | g.33739314A>C | CA402176862 | ASXL3 | c.1913A>C (p.Glu638Ala) c.1910A>C (p.Glu637Ala) c.*1034A>C (n.*1034A>C) c.*1569A>C (n.*1569A>C) c.2122A>C (n.2122A>C) c.1742A>C (p.Glu581Ala) c.1790A>C (p.Glu597Ala) c.1886A>C (p.Glu629Ala) c.1832A>C (p.Glu611Ala) c.1793A>C (p.Glu598Ala) | gnomAD v4 |
18 | g.33739314A>G | CA402176863 | ASXL3 | c.1913A>G (p.Glu638Gly) c.1910A>G (p.Glu637Gly) c.*1034A>G (n.*1034A>G) c.*1569A>G (n.*1569A>G) c.2122A>G (n.2122A>G) c.1742A>G (p.Glu581Gly) c.1790A>G (p.Glu597Gly) c.1886A>G (p.Glu629Gly) c.1832A>G (p.Glu611Gly) c.1793A>G (p.Glu598Gly) | |
18 | g.33739314A>T | CA402176864 | ASXL3 | c.1913A>T (p.Glu638Val) c.1910A>T (p.Glu637Val) c.*1034A>T (n.*1034A>T) c.*1569A>T (n.*1569A>T) c.2122A>T (n.2122A>T) c.1742A>T (p.Glu581Val) c.1790A>T (p.Glu597Val) c.1886A>T (p.Glu629Val) c.1832A>T (p.Glu611Val) c.1793A>T (p.Glu598Val) | |
18 | g.33739315A>C | CA402176865 | ASXL3 | c.1914A>C (p.Glu638Asp) c.1911A>C (p.Glu637Asp) c.*1035A>C (n.*1035A>C) c.*1570A>C (n.*1570A>C) c.2123A>C (n.2123A>C) c.1743A>C (p.Glu581Asp) c.1791A>C (p.Glu597Asp) c.1887A>C (p.Glu629Asp) c.1833A>C (p.Glu611Asp) c.1794A>C (p.Glu598Asp) | |
18 | g.33739315A>G | CA503768928 | ASXL3 | c.1914A>G (p.Glu638=) c.1911A>G (p.Glu637=) c.*1035A>G (n.*1035A>G) c.*1570A>G (n.*1570A>G) c.2123A>G (n.2123A>G) c.1743A>G (p.Glu581=) c.1791A>G (p.Glu597=) c.1887A>G (p.Glu629=) c.1833A>G (p.Glu611=) c.1794A>G (p.Glu598=) | gnomAD v4 |
18 | g.33739315A>T | CA402176866 | ASXL3 | c.1914A>T (p.Glu638Asp) c.1911A>T (p.Glu637Asp) c.*1035A>T (n.*1035A>T) c.*1570A>T (n.*1570A>T) c.2123A>T (n.2123A>T) c.1743A>T (p.Glu581Asp) c.1791A>T (p.Glu597Asp) c.1887A>T (p.Glu629Asp) c.1833A>T (p.Glu611Asp) c.1794A>T (p.Glu598Asp) | |
18 | g.33739316G>A | CA402176867 | ASXL3 | c.1915G>A (p.Glu639Lys) c.1912G>A (p.Glu638Lys) c.*1036G>A (n.*1036G>A) c.*1571G>A (n.*1571G>A) c.2124G>A (n.2124G>A) c.1744G>A (p.Glu582Lys) c.1792G>A (p.Glu598Lys) c.1888G>A (p.Glu630Lys) c.1834G>A (p.Glu612Lys) c.1795G>A (p.Glu599Lys) | gnomAD v4 |
18 | g.33739316G>C | CA402176869 | ASXL3 | c.1915G>C (p.Glu639Gln) c.1912G>C (p.Glu638Gln) c.*1036G>C (n.*1036G>C) c.*1571G>C (n.*1571G>C) c.2124G>C (n.2124G>C) c.1744G>C (p.Glu582Gln) c.1792G>C (p.Glu598Gln) c.1888G>C (p.Glu630Gln) c.1834G>C (p.Glu612Gln) c.1795G>C (p.Glu599Gln) | |
18 | g.33739316G>T | CA402176868 | ASXL3 | c.1915G>T (p.Glu639Ter) c.1912G>T (p.Glu638Ter) c.*1036G>T (n.*1036G>T) c.*1571G>T (n.*1571G>T) c.2124G>T (n.2124G>T) c.1744G>T (p.Glu582Ter) c.1792G>T (p.Glu598Ter) c.1888G>T (p.Glu630Ter) c.1834G>T (p.Glu612Ter) c.1795G>T (p.Glu599Ter) | |
18 | g.33739317A>C | CA402176870 | ASXL3 | c.1916A>C (p.Glu639Ala) c.1913A>C (p.Glu638Ala) c.*1037A>C (n.*1037A>C) c.*1572A>C (n.*1572A>C) c.2125A>C (n.2125A>C) c.1745A>C (p.Glu582Ala) c.1793A>C (p.Glu598Ala) c.1889A>C (p.Glu630Ala) c.1835A>C (p.Glu612Ala) c.1796A>C (p.Glu599Ala) | |
18 | g.33739317A>G | CA402176871 | ASXL3 | c.1916A>G (p.Glu639Gly) c.1913A>G (p.Glu638Gly) c.*1037A>G (n.*1037A>G) c.*1572A>G (n.*1572A>G) c.2125A>G (n.2125A>G) c.1745A>G (p.Glu582Gly) c.1793A>G (p.Glu598Gly) c.1889A>G (p.Glu630Gly) c.1835A>G (p.Glu612Gly) c.1796A>G (p.Glu599Gly) | |
18 | g.33739317A>T | CA402176872 | ASXL3 | c.1916A>T (p.Glu639Val) c.1913A>T (p.Glu638Val) c.*1037A>T (n.*1037A>T) c.*1572A>T (n.*1572A>T) c.2125A>T (n.2125A>T) c.1745A>T (p.Glu582Val) c.1793A>T (p.Glu598Val) c.1889A>T (p.Glu630Val) c.1835A>T (p.Glu612Val) c.1796A>T (p.Glu599Val) | |
18 | g.33739318A= | CA2294855919 | ASXL3 | c.1917A= (p.Glu639=) c.1914A= (p.Glu638=) c.*1038A= (n.*1038A=) c.*1573A= (n.*1573A=) c.2126A= (n.2126A=) c.1746A= (p.Glu582=) c.1794A= (p.Glu598=) c.1890A= (p.Glu630=) c.1836A= (p.Glu612=) c.1797A= (p.Glu599=) | |
18 | g.33739318A>C | CA402176873 | ASXL3 | c.1917A>C (p.Glu639Asp) c.1914A>C (p.Glu638Asp) c.*1038A>C (n.*1038A>C) c.*1573A>C (n.*1573A>C) c.2126A>C (n.2126A>C) c.1746A>C (p.Glu582Asp) c.1794A>C (p.Glu598Asp) c.1890A>C (p.Glu630Asp) c.1836A>C (p.Glu612Asp) c.1797A>C (p.Glu599Asp) | |
18 | g.33739318A>G | CA8933833 | ASXL3 | c.1917A>G (p.Glu639=) c.1914A>G (p.Glu638=) c.*1038A>G (n.*1038A>G) c.*1573A>G (n.*1573A>G) c.2126A>G (n.2126A>G) c.1746A>G (p.Glu582=) c.1794A>G (p.Glu598=) c.1890A>G (p.Glu630=) c.1836A>G (p.Glu612=) c.1797A>G (p.Glu599=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739318A>T | CA402176874 | ASXL3 | c.1917A>T (p.Glu639Asp) c.1914A>T (p.Glu638Asp) c.*1038A>T (n.*1038A>T) c.*1573A>T (n.*1573A>T) c.2126A>T (n.2126A>T) c.1746A>T (p.Glu582Asp) c.1794A>T (p.Glu598Asp) c.1890A>T (p.Glu630Asp) c.1836A>T (p.Glu612Asp) c.1797A>T (p.Glu599Asp) | |
18 | g.33739319T>A | CA402176875 | ASXL3 | c.1918T>A (p.Ser640Thr) c.1915T>A (p.Ser639Thr) c.*1039T>A (n.*1039T>A) c.*1574T>A (n.*1574T>A) c.2127T>A (n.2127T>A) c.1747T>A (p.Ser583Thr) c.1795T>A (p.Ser599Thr) c.1891T>A (p.Ser631Thr) c.1837T>A (p.Ser613Thr) c.1798T>A (p.Ser600Thr) | gnomAD v4 |
18 | g.33739319T>C | CA402176876 | ASXL3 | c.1918T>C (p.Ser640Pro) c.1915T>C (p.Ser639Pro) c.*1039T>C (n.*1039T>C) c.*1574T>C (n.*1574T>C) c.2127T>C (n.2127T>C) c.1747T>C (p.Ser583Pro) c.1795T>C (p.Ser599Pro) c.1891T>C (p.Ser631Pro) c.1837T>C (p.Ser613Pro) c.1798T>C (p.Ser600Pro) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739319T>G | CA402176877 | ASXL3 | c.1918T>G (p.Ser640Ala) c.1915T>G (p.Ser639Ala) c.*1039T>G (n.*1039T>G) c.*1574T>G (n.*1574T>G) c.2127T>G (n.2127T>G) c.1747T>G (p.Ser583Ala) c.1795T>G (p.Ser599Ala) c.1891T>G (p.Ser631Ala) c.1837T>G (p.Ser613Ala) c.1798T>G (p.Ser600Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739319T= | CA2294855920 | ASXL3 | c.1918T= (p.Ser640=) c.1915T= (p.Ser639=) c.*1039T= (n.*1039T=) c.*1574T= (n.*1574T=) c.2127T= (n.2127T=) c.1747T= (p.Ser583=) c.1795T= (p.Ser599=) c.1891T= (p.Ser631=) c.1837T= (p.Ser613=) c.1798T= (p.Ser600=) | |
18 | g.33739320C>A | CA402176878 | ASXL3 | c.1919C>A (p.Ser640Ter) c.1916C>A (p.Ser639Ter) c.*1040C>A (n.*1040C>A) c.*1575C>A (n.*1575C>A) c.2128C>A (n.2128C>A) c.1748C>A (p.Ser583Ter) c.1796C>A (p.Ser599Ter) c.1892C>A (p.Ser631Ter) c.1838C>A (p.Ser613Ter) c.1799C>A (p.Ser600Ter) | |
18 | g.33739320C= | CA2294855921 | ASXL3 | c.1919C= (p.Ser640=) c.1916C= (p.Ser639=) c.*1040C= (n.*1040C=) c.*1575C= (n.*1575C=) c.2128C= (n.2128C=) c.1748C= (p.Ser583=) c.1796C= (p.Ser599=) c.1892C= (p.Ser631=) c.1838C= (p.Ser613=) c.1799C= (p.Ser600=) | |
18 | g.33739320C>G | CA402176879 | ASXL3 | c.1919C>G (p.Ser640Ter) c.1916C>G (p.Ser639Ter) c.*1040C>G (n.*1040C>G) c.*1575C>G (n.*1575C>G) c.2128C>G (n.2128C>G) c.1748C>G (p.Ser583Ter) c.1796C>G (p.Ser599Ter) c.1892C>G (p.Ser631Ter) c.1838C>G (p.Ser613Ter) c.1799C>G (p.Ser600Ter) | |
18 | g.33739320C>T | CA297787100 | ASXL3 | c.1919C>T (p.Ser640Leu) c.1916C>T (p.Ser639Leu) c.*1040C>T (n.*1040C>T) c.*1575C>T (n.*1575C>T) c.2128C>T (n.2128C>T) c.1748C>T (p.Ser583Leu) c.1796C>T (p.Ser599Leu) c.1892C>T (p.Ser631Leu) c.1838C>T (p.Ser613Leu) c.1799C>T (p.Ser600Leu) | dbSNP |
18 | g.33739321A= | CA2294855922 | ASXL3 | c.1920A= (p.Ser640=) c.1917A= (p.Ser639=) c.*1041A= (n.*1041A=) c.*1576A= (n.*1576A=) c.2129A= (n.2129A=) c.1749A= (p.Ser583=) c.1797A= (p.Ser599=) c.1893A= (p.Ser631=) c.1839A= (p.Ser613=) c.1800A= (p.Ser600=) | |
18 | g.33739321A>C | CA503768932 | ASXL3 | c.1920A>C (p.Ser640=) c.1917A>C (p.Ser639=) c.*1041A>C (n.*1041A>C) c.*1576A>C (n.*1576A>C) c.2129A>C (n.2129A>C) c.1749A>C (p.Ser583=) c.1797A>C (p.Ser599=) c.1893A>C (p.Ser631=) c.1839A>C (p.Ser613=) c.1800A>C (p.Ser600=) | |
18 | g.33739321A>G | CA8933834 | ASXL3 | c.1920A>G (p.Ser640=) c.1917A>G (p.Ser639=) c.*1041A>G (n.*1041A>G) c.*1576A>G (n.*1576A>G) c.2129A>G (n.2129A>G) c.1749A>G (p.Ser583=) c.1797A>G (p.Ser599=) c.1893A>G (p.Ser631=) c.1839A>G (p.Ser613=) c.1800A>G (p.Ser600=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739321A>T | CA503768934 | ASXL3 | c.1920A>T (p.Ser640=) c.1917A>T (p.Ser639=) c.*1041A>T (n.*1041A>T) c.*1576A>T (n.*1576A>T) c.2129A>T (n.2129A>T) c.1749A>T (p.Ser583=) c.1797A>T (p.Ser599=) c.1893A>T (p.Ser631=) c.1839A>T (p.Ser613=) c.1800A>T (p.Ser600=) | |
18 | g.33739322T>A | CA402176881 | ASXL3 | c.1921T>A (p.Cys641Ser) c.1918T>A (p.Cys640Ser) c.*1042T>A (n.*1042T>A) c.*1577T>A (n.*1577T>A) c.2130T>A (n.2130T>A) c.1750T>A (p.Cys584Ser) c.1798T>A (p.Cys600Ser) c.1894T>A (p.Cys632Ser) c.1840T>A (p.Cys614Ser) c.1801T>A (p.Cys601Ser) | |
18 | g.33739322T>C | CA402176880 | ASXL3 | c.1921T>C (p.Cys641Arg) c.1918T>C (p.Cys640Arg) c.*1042T>C (n.*1042T>C) c.*1577T>C (n.*1577T>C) c.2130T>C (n.2130T>C) c.1750T>C (p.Cys584Arg) c.1798T>C (p.Cys600Arg) c.1894T>C (p.Cys632Arg) c.1840T>C (p.Cys614Arg) c.1801T>C (p.Cys601Arg) | ClinVar dbSNP gnomAD v4 |
18 | g.33739322T>G | CA8933835 | ASXL3 | c.1921T>G (p.Cys641Gly) c.1918T>G (p.Cys640Gly) c.*1042T>G (n.*1042T>G) c.*1577T>G (n.*1577T>G) c.2130T>G (n.2130T>G) c.1750T>G (p.Cys584Gly) c.1798T>G (p.Cys600Gly) c.1894T>G (p.Cys632Gly) c.1840T>G (p.Cys614Gly) c.1801T>G (p.Cys601Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739322T= | CA2294855923 | ASXL3 | c.1921T= (p.Cys641=) c.1918T= (p.Cys640=) c.*1042T= (n.*1042T=) c.*1577T= (n.*1577T=) c.2130T= (n.2130T=) c.1750T= (p.Cys584=) c.1798T= (p.Cys600=) c.1894T= (p.Cys632=) c.1840T= (p.Cys614=) c.1801T= (p.Cys601=) | |
18 | g.33739323G>A | CA8933836 | ASXL3 | c.1922G>A (p.Cys641Tyr) c.1919G>A (p.Cys640Tyr) c.*1043G>A (n.*1043G>A) c.*1578G>A (n.*1578G>A) c.2131G>A (n.2131G>A) c.1751G>A (p.Cys584Tyr) c.1799G>A (p.Cys600Tyr) c.1895G>A (p.Cys632Tyr) c.1841G>A (p.Cys614Tyr) c.1802G>A (p.Cys601Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739323G>C | CA402176882 | ASXL3 | c.1922G>C (p.Cys641Ser) c.1919G>C (p.Cys640Ser) c.*1043G>C (n.*1043G>C) c.*1578G>C (n.*1578G>C) c.2131G>C (n.2131G>C) c.1751G>C (p.Cys584Ser) c.1799G>C (p.Cys600Ser) c.1895G>C (p.Cys632Ser) c.1841G>C (p.Cys614Ser) c.1802G>C (p.Cys601Ser) | |
18 | g.33739323G= | CA2294855924 | ASXL3 | c.1922G= (p.Cys641=) c.1919G= (p.Cys640=) c.*1043G= (n.*1043G=) c.*1578G= (n.*1578G=) c.2131G= (n.2131G=) c.1751G= (p.Cys584=) c.1799G= (p.Cys600=) c.1895G= (p.Cys632=) c.1841G= (p.Cys614=) c.1802G= (p.Cys601=) | |
18 | g.33739323G>T | CA402176883 | ASXL3 | c.1922G>T (p.Cys641Phe) c.1919G>T (p.Cys640Phe) c.*1043G>T (n.*1043G>T) c.*1578G>T (n.*1578G>T) c.2131G>T (n.2131G>T) c.1751G>T (p.Cys584Phe) c.1799G>T (p.Cys600Phe) c.1895G>T (p.Cys632Phe) c.1841G>T (p.Cys614Phe) c.1802G>T (p.Cys601Phe) | |
18 | g.33739324T>A | CA402176884 | ASXL3 | c.1923T>A (p.Cys641Ter) c.1920T>A (p.Cys640Ter) c.*1044T>A (n.*1044T>A) c.*1579T>A (n.*1579T>A) c.2132T>A (n.2132T>A) c.1752T>A (p.Cys584Ter) c.1800T>A (p.Cys600Ter) c.1896T>A (p.Cys632Ter) c.1842T>A (p.Cys614Ter) c.1803T>A (p.Cys601Ter) | |
18 | g.33739324T>C | CA503768935 | ASXL3 | c.1923T>C (p.Cys641=) c.1920T>C (p.Cys640=) c.*1044T>C (n.*1044T>C) c.*1579T>C (n.*1579T>C) c.2132T>C (n.2132T>C) c.1752T>C (p.Cys584=) c.1800T>C (p.Cys600=) c.1896T>C (p.Cys632=) c.1842T>C (p.Cys614=) c.1803T>C (p.Cys601=) | dbSNP |
18 | g.33739324T>G | CA402176885 | ASXL3 | c.1923T>G (p.Cys641Trp) c.1920T>G (p.Cys640Trp) c.*1044T>G (n.*1044T>G) c.*1579T>G (n.*1579T>G) c.2132T>G (n.2132T>G) c.1752T>G (p.Cys584Trp) c.1800T>G (p.Cys600Trp) c.1896T>G (p.Cys632Trp) c.1842T>G (p.Cys614Trp) c.1803T>G (p.Cys601Trp) | |
18 | g.33739324T= | CA2294855925 | ASXL3 | c.1923T= (p.Cys641=) c.1920T= (p.Cys640=) c.*1044T= (n.*1044T=) c.*1579T= (n.*1579T=) c.2132T= (n.2132T=) c.1752T= (p.Cys584=) c.1800T= (p.Cys600=) c.1896T= (p.Cys632=) c.1842T= (p.Cys614=) c.1803T= (p.Cys601=) | |
18 | g.33739325A= | CA2294855926 | ASXL3 | c.1924A= (p.Thr642=) c.1921A= (p.Thr641=) c.*1045A= (n.*1045A=) c.*1580A= (n.*1580A=) c.2133A= (n.2133A=) c.1753A= (p.Thr585=) c.1801A= (p.Thr601=) c.1897A= (p.Thr633=) c.1843A= (p.Thr615=) c.1804A= (p.Thr602=) | |
18 | g.33739325A>C | CA402176886 | ASXL3 | c.1924A>C (p.Thr642Pro) c.1921A>C (p.Thr641Pro) c.*1045A>C (n.*1045A>C) c.*1580A>C (n.*1580A>C) c.2133A>C (n.2133A>C) c.1753A>C (p.Thr585Pro) c.1801A>C (p.Thr601Pro) c.1897A>C (p.Thr633Pro) c.1843A>C (p.Thr615Pro) c.1804A>C (p.Thr602Pro) | |
18 | g.33739325A>G | CA402176887 | ASXL3 | c.1924A>G (p.Thr642Ala) c.1921A>G (p.Thr641Ala) c.*1045A>G (n.*1045A>G) c.*1580A>G (n.*1580A>G) c.2133A>G (n.2133A>G) c.1753A>G (p.Thr585Ala) c.1801A>G (p.Thr601Ala) c.1897A>G (p.Thr633Ala) c.1843A>G (p.Thr615Ala) c.1804A>G (p.Thr602Ala) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739325A>T | CA402176888 | ASXL3 | c.1924A>T (p.Thr642Ser) c.1921A>T (p.Thr641Ser) c.*1045A>T (n.*1045A>T) c.*1580A>T (n.*1580A>T) c.2133A>T (n.2133A>T) c.1753A>T (p.Thr585Ser) c.1801A>T (p.Thr601Ser) c.1897A>T (p.Thr633Ser) c.1843A>T (p.Thr615Ser) c.1804A>T (p.Thr602Ser) | |
18 | g.33739325_33739328dup | CA2695227383 | ASXL3 | c.1924_1927dup (p.Pro643HisfsTer6) c.1921_1924dup (p.Pro642HisfsTer6) c.*1045_*1048dup (n.*1045_*1048dup) c.*1580_*1583dup (n.*1580_*1583dup) c.2133_2136dup (n.2133_2136dup) c.1753_1756dup (p.Pro586HisfsTer6) c.1801_1804dup (p.Pro602HisfsTer6) c.1897_1900dup (p.Pro634HisfsTer6) c.1843_1846dup (p.Pro616HisfsTer6) c.1804_1807dup (p.Pro603HisfsTer6) | |
18 | g.33739326C>A | CA402176889 | ASXL3 | c.1925C>A (p.Thr642Asn) c.1922C>A (p.Thr641Asn) c.*1046C>A (n.*1046C>A) c.*1581C>A (n.*1581C>A) c.2134C>A (n.2134C>A) c.1754C>A (p.Thr585Asn) c.1802C>A (p.Thr601Asn) c.1898C>A (p.Thr633Asn) c.1844C>A (p.Thr615Asn) c.1805C>A (p.Thr602Asn) | |
18 | g.33739326C>G | CA402176890 | ASXL3 | c.1925C>G (p.Thr642Ser) c.1922C>G (p.Thr641Ser) c.*1046C>G (n.*1046C>G) c.*1581C>G (n.*1581C>G) c.2134C>G (n.2134C>G) c.1754C>G (p.Thr585Ser) c.1802C>G (p.Thr601Ser) c.1898C>G (p.Thr633Ser) c.1844C>G (p.Thr615Ser) c.1805C>G (p.Thr602Ser) | |
18 | g.33739326C>T | CA402176891 | ASXL3 | c.1925C>T (p.Thr642Ile) c.1922C>T (p.Thr641Ile) c.*1046C>T (n.*1046C>T) c.*1581C>T (n.*1581C>T) c.2134C>T (n.2134C>T) c.1754C>T (p.Thr585Ile) c.1802C>T (p.Thr601Ile) c.1898C>T (p.Thr633Ile) c.1844C>T (p.Thr615Ile) c.1805C>T (p.Thr602Ile) | gnomAD v4 |
18 | g.33739327T>A | CA503768939 | ASXL3 | c.1926T>A (p.Thr642=) c.1923T>A (p.Thr641=) c.*1047T>A (n.*1047T>A) c.*1582T>A (n.*1582T>A) c.2135T>A (n.2135T>A) c.1755T>A (p.Thr585=) c.1803T>A (p.Thr601=) c.1899T>A (p.Thr633=) c.1845T>A (p.Thr615=) c.1806T>A (p.Thr602=) | gnomAD v4 |
18 | g.33739327T>C | CA503768940 | ASXL3 | c.1926T>C (p.Thr642=) c.1923T>C (p.Thr641=) c.*1047T>C (n.*1047T>C) c.*1582T>C (n.*1582T>C) c.2135T>C (n.2135T>C) c.1755T>C (p.Thr585=) c.1803T>C (p.Thr601=) c.1899T>C (p.Thr633=) c.1845T>C (p.Thr615=) c.1806T>C (p.Thr602=) | |
18 | g.33739327T>G | CA503768941 | ASXL3 | c.1926T>G (p.Thr642=) c.1923T>G (p.Thr641=) c.*1047T>G (n.*1047T>G) c.*1582T>G (n.*1582T>G) c.2135T>G (n.2135T>G) c.1755T>G (p.Thr585=) c.1803T>G (p.Thr601=) c.1899T>G (p.Thr633=) c.1845T>G (p.Thr615=) c.1806T>G (p.Thr602=) | |
18 | g.33739328C>A | CA402176893 | ASXL3 | c.1927C>A (p.Pro643Thr) c.1924C>A (p.Pro642Thr) c.*1048C>A (n.*1048C>A) c.*1583C>A (n.*1583C>A) c.2136C>A (n.2136C>A) c.1756C>A (p.Pro586Thr) c.1804C>A (p.Pro602Thr) c.1900C>A (p.Pro634Thr) c.1846C>A (p.Pro616Thr) c.1807C>A (p.Pro603Thr) | gnomAD v4 |
18 | g.33739328C= | CA2294855927 | ASXL3 | c.1927C= (p.Pro643=) c.1924C= (p.Pro642=) c.*1048C= (n.*1048C=) c.*1583C= (n.*1583C=) c.2136C= (n.2136C=) c.1756C= (p.Pro586=) c.1804C= (p.Pro602=) c.1900C= (p.Pro634=) c.1846C= (p.Pro616=) c.1807C= (p.Pro603=) | |
18 | g.33739328C>G | CA402176892 | ASXL3 | c.1927C>G (p.Pro643Ala) c.1924C>G (p.Pro642Ala) c.*1048C>G (n.*1048C>G) c.*1583C>G (n.*1583C>G) c.2136C>G (n.2136C>G) c.1756C>G (p.Pro586Ala) c.1804C>G (p.Pro602Ala) c.1900C>G (p.Pro634Ala) c.1846C>G (p.Pro616Ala) c.1807C>G (p.Pro603Ala) | gnomAD v4 |
18 | g.33739328C>T | CA8933837 | ASXL3 | c.1927C>T (p.Pro643Ser) c.1924C>T (p.Pro642Ser) c.*1048C>T (n.*1048C>T) c.*1583C>T (n.*1583C>T) c.2136C>T (n.2136C>T) c.1756C>T (p.Pro586Ser) c.1804C>T (p.Pro602Ser) c.1900C>T (p.Pro634Ser) c.1846C>T (p.Pro616Ser) c.1807C>T (p.Pro603Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739329del | CA2812055554 | ASXL3 | c.1928del (p.Pro643GlnfsTer?) c.1925del (p.Pro642GlnfsTer?) c.*1049del (n.*1049del) c.*1584del (n.*1584del) c.2137del (n.2137del) c.1757del (p.Pro586GlnfsTer?) c.1805del (p.Pro602GlnfsTer?) c.1901del (p.Pro634GlnfsTer?) c.1847del (p.Pro616GlnfsTer?) c.1808del (p.Pro603GlnfsTer?) | |
18 | g.33739328_33739329insT | CA2812055556 | ASXL3 | c.1927_1928insT (p.Pro643LeufsTer5) c.1924_1925insT (p.Pro642LeufsTer5) c.*1048_*1049insT (n.*1048_*1049insT) c.*1583_*1584insT (n.*1583_*1584insT) c.2136_2137insT (n.2136_2137insT) c.1756_1757insT (p.Pro586LeufsTer5) c.1804_1805insT (p.Pro602LeufsTer5) c.1900_1901insT (p.Pro634LeufsTer5) c.1846_1847insT (p.Pro616LeufsTer5) c.1807_1808insT (p.Pro603LeufsTer5) | |
18 | g.33739329C>A | CA402176894 | ASXL3 | c.1928C>A (p.Pro643Gln) c.1925C>A (p.Pro642Gln) c.*1049C>A (n.*1049C>A) c.*1584C>A (n.*1584C>A) c.2137C>A (n.2137C>A) c.1757C>A (p.Pro586Gln) c.1805C>A (p.Pro602Gln) c.1901C>A (p.Pro634Gln) c.1847C>A (p.Pro616Gln) c.1808C>A (p.Pro603Gln) | |
18 | g.33739329C= | CA2294855928 | ASXL3 | c.1928C= (p.Pro643=) c.1925C= (p.Pro642=) c.*1049C= (n.*1049C=) c.*1584C= (n.*1584C=) c.2137C= (n.2137C=) c.1757C= (p.Pro586=) c.1805C= (p.Pro602=) c.1901C= (p.Pro634=) c.1847C= (p.Pro616=) c.1808C= (p.Pro603=) | |
18 | g.33739329C>G | CA402176895 | ASXL3 | c.1928C>G (p.Pro643Arg) c.1925C>G (p.Pro642Arg) c.*1049C>G (n.*1049C>G) c.*1584C>G (n.*1584C>G) c.2137C>G (n.2137C>G) c.1757C>G (p.Pro586Arg) c.1805C>G (p.Pro602Arg) c.1901C>G (p.Pro634Arg) c.1847C>G (p.Pro616Arg) c.1808C>G (p.Pro603Arg) | |
18 | g.33739329C>T | CA209303 | ASXL3 | c.1928C>T (p.Pro643Leu) c.1925C>T (p.Pro642Leu) c.*1049C>T (n.*1049C>T) c.*1584C>T (n.*1584C>T) c.2137C>T (n.2137C>T) c.1757C>T (p.Pro586Leu) c.1805C>T (p.Pro602Leu) c.1901C>T (p.Pro634Leu) c.1847C>T (p.Pro616Leu) c.1808C>T (p.Pro603Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739330A= | CA2294855929 | ASXL3 | c.1929A= (p.Pro643=) c.1926A= (p.Pro642=) c.*1050A= (n.*1050A=) c.*1585A= (n.*1585A=) c.2138A= (n.2138A=) c.1758A= (p.Pro586=) c.1806A= (p.Pro602=) c.1902A= (p.Pro634=) c.1848A= (p.Pro616=) c.1809A= (p.Pro603=) | |
18 | g.33739330A>C | CA503768943 | ASXL3 | c.1929A>C (p.Pro643=) c.1926A>C (p.Pro642=) c.*1050A>C (n.*1050A>C) c.*1585A>C (n.*1585A>C) c.2138A>C (n.2138A>C) c.1758A>C (p.Pro586=) c.1806A>C (p.Pro602=) c.1902A>C (p.Pro634=) c.1848A>C (p.Pro616=) c.1809A>C (p.Pro603=) | |
18 | g.33739330A>G | CA503768947 | ASXL3 | c.1929A>G (p.Pro643=) c.1926A>G (p.Pro642=) c.*1050A>G (n.*1050A>G) c.*1585A>G (n.*1585A>G) c.2138A>G (n.2138A>G) c.1758A>G (p.Pro586=) c.1806A>G (p.Pro602=) c.1902A>G (p.Pro634=) c.1848A>G (p.Pro616=) c.1809A>G (p.Pro603=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739330A>T | CA503768945 | ASXL3 | c.1929A>T (p.Pro643=) c.1926A>T (p.Pro642=) c.*1050A>T (n.*1050A>T) c.*1585A>T (n.*1585A>T) c.2138A>T (n.2138A>T) c.1758A>T (p.Pro586=) c.1806A>T (p.Pro602=) c.1902A>T (p.Pro634=) c.1848A>T (p.Pro616=) c.1809A>T (p.Pro603=) | |
18 | g.33739330_33739331insAGGGAG | CA2812055557 | ASXL3 | c.1929_1930insAGGGAG (p.Pro643_Ala644insArgGlu) c.1926_1927insAGGGAG (p.Pro642_Ala643insArgGlu) c.*1050_*1051insAGGGAG (n.*1050_*1051insAGGGAG) c.*1585_*1586insAGGGAG (n.*1585_*1586insAGGGAG) c.2138_2139insAGGGAG (n.2138_2139insAGGGAG) c.1758_1759insAGGGAG (p.Pro586_Ala587insArgGlu) c.1806_1807insAGGGAG (p.Pro602_Ala603insArgGlu) c.1902_1903insAGGGAG (p.Pro634_Ala635insArgGlu) c.1848_1849insAGGGAG (p.Pro616_Ala617insArgGlu) c.1809_1810insAGGGAG (p.Pro603_Ala604insArgGlu) | |
18 | g.33739331G>A | CA402176896 | ASXL3 | c.1930G>A (p.Ala644Thr) c.1927G>A (p.Ala643Thr) c.*1051G>A (n.*1051G>A) c.*1586G>A (n.*1586G>A) c.2139G>A (n.2139G>A) c.1759G>A (p.Ala587Thr) c.1807G>A (p.Ala603Thr) c.1903G>A (p.Ala635Thr) c.1849G>A (p.Ala617Thr) c.1810G>A (p.Ala604Thr) | |
18 | g.33739331G>C | CA402176897 | ASXL3 | c.1930G>C (p.Ala644Pro) c.1927G>C (p.Ala643Pro) c.*1051G>C (n.*1051G>C) c.*1586G>C (n.*1586G>C) c.2139G>C (n.2139G>C) c.1759G>C (p.Ala587Pro) c.1807G>C (p.Ala603Pro) c.1903G>C (p.Ala635Pro) c.1849G>C (p.Ala617Pro) c.1810G>C (p.Ala604Pro) | |
18 | g.33739331G= | CA2294855930 | ASXL3 | c.1930G= (p.Ala644=) c.1927G= (p.Ala643=) c.*1051G= (n.*1051G=) c.*1586G= (n.*1586G=) c.2139G= (n.2139G=) c.1759G= (p.Ala587=) c.1807G= (p.Ala603=) c.1903G= (p.Ala635=) c.1849G= (p.Ala617=) c.1810G= (p.Ala604=) | |
18 | g.33739331G>T | CA8933838 | ASXL3 | c.1930G>T (p.Ala644Ser) c.1927G>T (p.Ala643Ser) c.*1051G>T (n.*1051G>T) c.*1586G>T (n.*1586G>T) c.2139G>T (n.2139G>T) c.1759G>T (p.Ala587Ser) c.1807G>T (p.Ala603Ser) c.1903G>T (p.Ala635Ser) c.1849G>T (p.Ala617Ser) c.1810G>T (p.Ala604Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739332C>A | CA402176898 | ASXL3 | c.1931C>A (p.Ala644Asp) c.1928C>A (p.Ala643Asp) c.*1052C>A (n.*1052C>A) c.*1587C>A (n.*1587C>A) c.2140C>A (n.2140C>A) c.1760C>A (p.Ala587Asp) c.1808C>A (p.Ala603Asp) c.1904C>A (p.Ala635Asp) c.1850C>A (p.Ala617Asp) c.1811C>A (p.Ala604Asp) | gnomAD v4 |
18 | g.33739332C= | CA2294855931 | ASXL3 | c.1931C= (p.Ala644=) c.1928C= (p.Ala643=) c.*1052C= (n.*1052C=) c.*1587C= (n.*1587C=) c.2140C= (n.2140C=) c.1760C= (p.Ala587=) c.1808C= (p.Ala603=) c.1904C= (p.Ala635=) c.1850C= (p.Ala617=) c.1811C= (p.Ala604=) | |
18 | g.33739332C>G | CA402176899 | ASXL3 | c.1931C>G (p.Ala644Gly) c.1928C>G (p.Ala643Gly) c.*1052C>G (n.*1052C>G) c.*1587C>G (n.*1587C>G) c.2140C>G (n.2140C>G) c.1760C>G (p.Ala587Gly) c.1808C>G (p.Ala603Gly) c.1904C>G (p.Ala635Gly) c.1850C>G (p.Ala617Gly) c.1811C>G (p.Ala604Gly) | |
18 | g.33739332C>T | CA402176900 | ASXL3 | c.1931C>T (p.Ala644Val) c.1928C>T (p.Ala643Val) c.*1052C>T (n.*1052C>T) c.*1587C>T (n.*1587C>T) c.2140C>T (n.2140C>T) c.1760C>T (p.Ala587Val) c.1808C>T (p.Ala603Val) c.1904C>T (p.Ala635Val) c.1850C>T (p.Ala617Val) c.1811C>T (p.Ala604Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739333C>A | CA503768948 | ASXL3 | c.1932C>A (p.Ala644=) c.1929C>A (p.Ala643=) c.*1053C>A (n.*1053C>A) c.*1588C>A (n.*1588C>A) c.2141C>A (n.2141C>A) c.1761C>A (p.Ala587=) c.1809C>A (p.Ala603=) c.1905C>A (p.Ala635=) c.1851C>A (p.Ala617=) c.1812C>A (p.Ala604=) | |
18 | g.33739333C>G | CA503768949 | ASXL3 | c.1932C>G (p.Ala644=) c.1929C>G (p.Ala643=) c.*1053C>G (n.*1053C>G) c.*1588C>G (n.*1588C>G) c.2141C>G (n.2141C>G) c.1761C>G (p.Ala587=) c.1809C>G (p.Ala603=) c.1905C>G (p.Ala635=) c.1851C>G (p.Ala617=) c.1812C>G (p.Ala604=) | |
18 | g.33739333C>T | CA503768950 | ASXL3 | c.1932C>T (p.Ala644=) c.1929C>T (p.Ala643=) c.*1053C>T (n.*1053C>T) c.*1588C>T (n.*1588C>T) c.2141C>T (n.2141C>T) c.1761C>T (p.Ala587=) c.1809C>T (p.Ala603=) c.1905C>T (p.Ala635=) c.1851C>T (p.Ala617=) c.1812C>T (p.Ala604=) | gnomAD v4 |
18 | g.33739333_33739338del | CA2812055559 | ASXL3 | c.1932_1937del (p.Ser645_Leu646del) c.1929_1934del (p.Ser644_Leu645del) c.*1053_*1058del (n.*1053_*1058del) c.*1588_*1593del (n.*1588_*1593del) c.2141_2146del (n.2141_2146del) c.1761_1766del (p.Ser588_Leu589del) c.1809_1814del (p.Ser604_Leu605del) c.1905_1910del (p.Ser636_Leu637del) c.1851_1856del (p.Ser618_Leu619del) c.1812_1817del (p.Ser605_Leu606del) | |
18 | g.33739334T>A | CA402176901 | ASXL3 | c.1933T>A (p.Ser645Thr) c.1930T>A (p.Ser644Thr) c.*1054T>A (n.*1054T>A) c.*1589T>A (n.*1589T>A) c.2142T>A (n.2142T>A) c.1762T>A (p.Ser588Thr) c.1810T>A (p.Ser604Thr) c.1906T>A (p.Ser636Thr) c.1852T>A (p.Ser618Thr) c.1813T>A (p.Ser605Thr) | |
18 | g.33739334T>C | CA402176902 | ASXL3 | c.1933T>C (p.Ser645Pro) c.1930T>C (p.Ser644Pro) c.*1054T>C (n.*1054T>C) c.*1589T>C (n.*1589T>C) c.2142T>C (n.2142T>C) c.1762T>C (p.Ser588Pro) c.1810T>C (p.Ser604Pro) c.1906T>C (p.Ser636Pro) c.1852T>C (p.Ser618Pro) c.1813T>C (p.Ser605Pro) | |
18 | g.33739334T>G | CA402176903 | ASXL3 | c.1933T>G (p.Ser645Ala) c.1930T>G (p.Ser644Ala) c.*1054T>G (n.*1054T>G) c.*1589T>G (n.*1589T>G) c.2142T>G (n.2142T>G) c.1762T>G (p.Ser588Ala) c.1810T>G (p.Ser604Ala) c.1906T>G (p.Ser636Ala) c.1852T>G (p.Ser618Ala) c.1813T>G (p.Ser605Ala) | |
18 | g.33739335C>A | CA402176905 | ASXL3 | c.1934C>A (p.Ser645Tyr) c.1931C>A (p.Ser644Tyr) c.*1055C>A (n.*1055C>A) c.*1590C>A (n.*1590C>A) c.2143C>A (n.2143C>A) c.1763C>A (p.Ser588Tyr) c.1811C>A (p.Ser604Tyr) c.1907C>A (p.Ser636Tyr) c.1853C>A (p.Ser618Tyr) c.1814C>A (p.Ser605Tyr) | |
18 | g.33739335C= | CA2294855932 | ASXL3 | c.1934C= (p.Ser645=) c.1931C= (p.Ser644=) c.*1055C= (n.*1055C=) c.*1590C= (n.*1590C=) c.2143C= (n.2143C=) c.1763C= (p.Ser588=) c.1811C= (p.Ser604=) c.1907C= (p.Ser636=) c.1853C= (p.Ser618=) c.1814C= (p.Ser605=) | |
18 | g.33739335C>G | CA8933839 | ASXL3 | c.1934C>G (p.Ser645Cys) c.1931C>G (p.Ser644Cys) c.*1055C>G (n.*1055C>G) c.*1590C>G (n.*1590C>G) c.2143C>G (n.2143C>G) c.1763C>G (p.Ser588Cys) c.1811C>G (p.Ser604Cys) c.1907C>G (p.Ser636Cys) c.1853C>G (p.Ser618Cys) c.1814C>G (p.Ser605Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739335C>T | CA402176904 | ASXL3 | c.1934C>T (p.Ser645Phe) c.1931C>T (p.Ser644Phe) c.*1055C>T (n.*1055C>T) c.*1590C>T (n.*1590C>T) c.2143C>T (n.2143C>T) c.1763C>T (p.Ser588Phe) c.1811C>T (p.Ser604Phe) c.1907C>T (p.Ser636Phe) c.1853C>T (p.Ser618Phe) c.1814C>T (p.Ser605Phe) | |
18 | g.33739336C>A | CA503768952 | ASXL3 | c.1935C>A (p.Ser645=) c.1932C>A (p.Ser644=) c.*1056C>A (n.*1056C>A) c.*1591C>A (n.*1591C>A) c.2144C>A (n.2144C>A) c.1764C>A (p.Ser588=) c.1812C>A (p.Ser604=) c.1908C>A (p.Ser636=) c.1854C>A (p.Ser618=) c.1815C>A (p.Ser605=) | |
18 | g.33739336C>G | CA503768953 | ASXL3 | c.1935C>G (p.Ser645=) c.1932C>G (p.Ser644=) c.*1056C>G (n.*1056C>G) c.*1591C>G (n.*1591C>G) c.2144C>G (n.2144C>G) c.1764C>G (p.Ser588=) c.1812C>G (p.Ser604=) c.1908C>G (p.Ser636=) c.1854C>G (p.Ser618=) c.1815C>G (p.Ser605=) | |
18 | g.33739336C>T | CA503768954 | ASXL3 | c.1935C>T (p.Ser645=) c.1932C>T (p.Ser644=) c.*1056C>T (n.*1056C>T) c.*1591C>T (n.*1591C>T) c.2144C>T (n.2144C>T) c.1764C>T (p.Ser588=) c.1812C>T (p.Ser604=) c.1908C>T (p.Ser636=) c.1854C>T (p.Ser618=) c.1815C>T (p.Ser605=) | |
18 | g.33739337C>A | CA402176906 | ASXL3 | c.1936C>A (p.Leu646Ile) c.1933C>A (p.Leu645Ile) c.*1057C>A (n.*1057C>A) c.*1592C>A (n.*1592C>A) c.2145C>A (n.2145C>A) c.1765C>A (p.Leu589Ile) c.1813C>A (p.Leu605Ile) c.1909C>A (p.Leu637Ile) c.1855C>A (p.Leu619Ile) c.1816C>A (p.Leu606Ile) | gnomAD v4 |
18 | g.33739337C>G | CA402176907 | ASXL3 | c.1936C>G (p.Leu646Val) c.1933C>G (p.Leu645Val) c.*1057C>G (n.*1057C>G) c.*1592C>G (n.*1592C>G) c.2145C>G (n.2145C>G) c.1765C>G (p.Leu589Val) c.1813C>G (p.Leu605Val) c.1909C>G (p.Leu637Val) c.1855C>G (p.Leu619Val) c.1816C>G (p.Leu606Val) | |
18 | g.33739337C>T | CA402176908 | ASXL3 | c.1936C>T (p.Leu646Phe) c.1933C>T (p.Leu645Phe) c.*1057C>T (n.*1057C>T) c.*1592C>T (n.*1592C>T) c.2145C>T (n.2145C>T) c.1765C>T (p.Leu589Phe) c.1813C>T (p.Leu605Phe) c.1909C>T (p.Leu637Phe) c.1855C>T (p.Leu619Phe) c.1816C>T (p.Leu606Phe) | |
18 | g.33739338T>A | CA402176909 | ASXL3 | c.1937T>A (p.Leu646His) c.1934T>A (p.Leu645His) c.*1058T>A (n.*1058T>A) c.*1593T>A (n.*1593T>A) c.2146T>A (n.2146T>A) c.1766T>A (p.Leu589His) c.1814T>A (p.Leu605His) c.1910T>A (p.Leu637His) c.1856T>A (p.Leu619His) c.1817T>A (p.Leu606His) | |
18 | g.33739338T>C | CA8933840 | ASXL3 | c.1937T>C (p.Leu646Pro) c.1934T>C (p.Leu645Pro) c.*1058T>C (n.*1058T>C) c.*1593T>C (n.*1593T>C) c.2146T>C (n.2146T>C) c.1766T>C (p.Leu589Pro) c.1814T>C (p.Leu605Pro) c.1910T>C (p.Leu637Pro) c.1856T>C (p.Leu619Pro) c.1817T>C (p.Leu606Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739338T>G | CA8933841 | ASXL3 | c.1937T>G (p.Leu646Arg) c.1934T>G (p.Leu645Arg) c.*1058T>G (n.*1058T>G) c.*1593T>G (n.*1593T>G) c.2146T>G (n.2146T>G) c.1766T>G (p.Leu589Arg) c.1814T>G (p.Leu605Arg) c.1910T>G (p.Leu637Arg) c.1856T>G (p.Leu619Arg) c.1817T>G (p.Leu606Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739338T= | CA2294855933 | ASXL3 | c.1937T= (p.Leu646=) c.1934T= (p.Leu645=) c.*1058T= (n.*1058T=) c.*1593T= (n.*1593T=) c.2146T= (n.2146T=) c.1766T= (p.Leu589=) c.1814T= (p.Leu605=) c.1910T= (p.Leu637=) c.1856T= (p.Leu619=) c.1817T= (p.Leu606=) | |
18 | g.33739339T>A | CA503768958 | ASXL3 | c.1938T>A (p.Leu646=) c.1935T>A (p.Leu645=) c.*1059T>A (n.*1059T>A) c.*1594T>A (n.*1594T>A) c.2147T>A (n.2147T>A) c.1767T>A (p.Leu589=) c.1815T>A (p.Leu605=) c.1911T>A (p.Leu637=) c.1857T>A (p.Leu619=) c.1818T>A (p.Leu606=) | |
18 | g.33739339T>C | CA503768959 | ASXL3 | c.1938T>C (p.Leu646=) c.1935T>C (p.Leu645=) c.*1059T>C (n.*1059T>C) c.*1594T>C (n.*1594T>C) c.2147T>C (n.2147T>C) c.1767T>C (p.Leu589=) c.1815T>C (p.Leu605=) c.1911T>C (p.Leu637=) c.1857T>C (p.Leu619=) c.1818T>C (p.Leu606=) | |
18 | g.33739339T>G | CA503768960 | ASXL3 | c.1938T>G (p.Leu646=) c.1935T>G (p.Leu645=) c.*1059T>G (n.*1059T>G) c.*1594T>G (n.*1594T>G) c.2147T>G (n.2147T>G) c.1767T>G (p.Leu589=) c.1815T>G (p.Leu605=) c.1911T>G (p.Leu637=) c.1857T>G (p.Leu619=) c.1818T>G (p.Leu606=) | gnomAD v4 |
18 | g.33739340G>A | CA402176912 | ASXL3 | c.1939G>A (p.Glu647Lys) c.1936G>A (p.Glu646Lys) c.*1060G>A (n.*1060G>A) c.*1595G>A (n.*1595G>A) c.2148G>A (n.2148G>A) c.1768G>A (p.Glu590Lys) c.1816G>A (p.Glu606Lys) c.1912G>A (p.Glu638Lys) c.1858G>A (p.Glu620Lys) c.1819G>A (p.Glu607Lys) | gnomAD v4 |
18 | g.33739340G>C | CA402176910 | ASXL3 | c.1939G>C (p.Glu647Gln) c.1936G>C (p.Glu646Gln) c.*1060G>C (n.*1060G>C) c.*1595G>C (n.*1595G>C) c.2148G>C (n.2148G>C) c.1768G>C (p.Glu590Gln) c.1816G>C (p.Glu606Gln) c.1912G>C (p.Glu638Gln) c.1858G>C (p.Glu620Gln) c.1819G>C (p.Glu607Gln) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739340G= | CA2294855934 | ASXL3 | c.1939G= (p.Glu647=) c.1936G= (p.Glu646=) c.*1060G= (n.*1060G=) c.*1595G= (n.*1595G=) c.2148G= (n.2148G=) c.1768G= (p.Glu590=) c.1816G= (p.Glu606=) c.1912G= (p.Glu638=) c.1858G= (p.Glu620=) c.1819G= (p.Glu607=) | |
18 | g.33739340G>T | CA402176911 | ASXL3 | c.1939G>T (p.Glu647Ter) c.1936G>T (p.Glu646Ter) c.*1060G>T (n.*1060G>T) c.*1595G>T (n.*1595G>T) c.2148G>T (n.2148G>T) c.1768G>T (p.Glu590Ter) c.1816G>T (p.Glu606Ter) c.1912G>T (p.Glu638Ter) c.1858G>T (p.Glu620Ter) c.1819G>T (p.Glu607Ter) | |
18 | g.33739340_33739341delinsGA | CA2294855935 | ASXL3 | c.1939_1940delinsGA (p.Glu647=) c.1936_1937delinsGA (p.Glu646=) c.*1060_*1061delinsGA (n.*1060_*1061delinsGA) c.*1595_*1596delinsGA (n.*1595_*1596delinsGA) c.2148_2149delinsGA (n.2148_2149delinsGA) c.1768_1769delinsGA (p.Glu590=) c.1816_1817delinsGA (p.Glu606=) c.1912_1913delinsGA (p.Glu638=) c.1858_1859delinsGA (p.Glu620=) c.1819_1820delinsGA (p.Glu607=) | |
18 | g.33739341del | CA629454103 | ASXL3 | c.1940del (p.Glu647GlyfsTer?) c.1937del (p.Glu646GlyfsTer?) c.*1061del (n.*1061del) c.*1596del (n.*1596del) c.2149del (n.2149del) c.1769del (p.Glu590GlyfsTer?) c.1817del (p.Glu606GlyfsTer?) c.1913del (p.Glu638GlyfsTer?) c.1859del (p.Glu620GlyfsTer?) c.1820del (p.Glu607GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739341A>C | CA402176913 | ASXL3 | c.1940A>C (p.Glu647Ala) c.1937A>C (p.Glu646Ala) c.*1061A>C (n.*1061A>C) c.*1596A>C (n.*1596A>C) c.2149A>C (n.2149A>C) c.1769A>C (p.Glu590Ala) c.1817A>C (p.Glu606Ala) c.1913A>C (p.Glu638Ala) c.1859A>C (p.Glu620Ala) c.1820A>C (p.Glu607Ala) | |
18 | g.33739341A>G | CA402176914 | ASXL3 | c.1940A>G (p.Glu647Gly) c.1937A>G (p.Glu646Gly) c.*1061A>G (n.*1061A>G) c.*1596A>G (n.*1596A>G) c.2149A>G (n.2149A>G) c.1769A>G (p.Glu590Gly) c.1817A>G (p.Glu606Gly) c.1913A>G (p.Glu638Gly) c.1859A>G (p.Glu620Gly) c.1820A>G (p.Glu607Gly) | |
18 | g.33739341A>T | CA402176915 | ASXL3 | c.1940A>T (p.Glu647Val) c.1937A>T (p.Glu646Val) c.*1061A>T (n.*1061A>T) c.*1596A>T (n.*1596A>T) c.2149A>T (n.2149A>T) c.1769A>T (p.Glu590Val) c.1817A>T (p.Glu606Val) c.1913A>T (p.Glu638Val) c.1859A>T (p.Glu620Val) c.1820A>T (p.Glu607Val) | |
18 | g.33739342G>A | CA503768964 | ASXL3 | c.1941G>A (p.Glu647=) c.1938G>A (p.Glu646=) c.*1062G>A (n.*1062G>A) c.*1597G>A (n.*1597G>A) c.2150G>A (n.2150G>A) c.1770G>A (p.Glu590=) c.1818G>A (p.Glu606=) c.1914G>A (p.Glu638=) c.1860G>A (p.Glu620=) c.1821G>A (p.Glu607=) | |
18 | g.33739342G>C | CA402176916 | ASXL3 | c.1941G>C (p.Glu647Asp) c.1938G>C (p.Glu646Asp) c.*1062G>C (n.*1062G>C) c.*1597G>C (n.*1597G>C) c.2150G>C (n.2150G>C) c.1770G>C (p.Glu590Asp) c.1818G>C (p.Glu606Asp) c.1914G>C (p.Glu638Asp) c.1860G>C (p.Glu620Asp) c.1821G>C (p.Glu607Asp) | |
18 | g.33739342G= | CA2294855936 | ASXL3 | c.1941G= (p.Glu647=) c.1938G= (p.Glu646=) c.*1062G= (n.*1062G=) c.*1597G= (n.*1597G=) c.2150G= (n.2150G=) c.1770G= (p.Glu590=) c.1818G= (p.Glu606=) c.1914G= (p.Glu638=) c.1860G= (p.Glu620=) c.1821G= (p.Glu607=) | |
18 | g.33739342G>T | CA402176917 | ASXL3 | c.1941G>T (p.Glu647Asp) c.1938G>T (p.Glu646Asp) c.*1062G>T (n.*1062G>T) c.*1597G>T (n.*1597G>T) c.2150G>T (n.2150G>T) c.1770G>T (p.Glu590Asp) c.1818G>T (p.Glu606Asp) c.1914G>T (p.Glu638Asp) c.1860G>T (p.Glu620Asp) c.1821G>T (p.Glu607Asp) | |
18 | g.33739343A>C | CA402176918 | ASXL3 | c.1942A>C (p.Thr648Pro) c.1939A>C (p.Thr647Pro) c.*1063A>C (n.*1063A>C) c.*1598A>C (n.*1598A>C) c.2151A>C (n.2151A>C) c.1771A>C (p.Thr591Pro) c.1819A>C (p.Thr607Pro) c.1915A>C (p.Thr639Pro) c.1861A>C (p.Thr621Pro) c.1822A>C (p.Thr608Pro) | |
18 | g.33739343A>G | CA402176920 | ASXL3 | c.1942A>G (p.Thr648Ala) c.1939A>G (p.Thr647Ala) c.*1063A>G (n.*1063A>G) c.*1598A>G (n.*1598A>G) c.2151A>G (n.2151A>G) c.1771A>G (p.Thr591Ala) c.1819A>G (p.Thr607Ala) c.1915A>G (p.Thr639Ala) c.1861A>G (p.Thr621Ala) c.1822A>G (p.Thr608Ala) | |
18 | g.33739343A>T | CA402176919 | ASXL3 | c.1942A>T (p.Thr648Ser) c.1939A>T (p.Thr647Ser) c.*1063A>T (n.*1063A>T) c.*1598A>T (n.*1598A>T) c.2151A>T (n.2151A>T) c.1771A>T (p.Thr591Ser) c.1819A>T (p.Thr607Ser) c.1915A>T (p.Thr639Ser) c.1861A>T (p.Thr621Ser) c.1822A>T (p.Thr608Ser) | gnomAD v4 |
18 | g.33739343dup | CA10603491 | ASXL3 | c.1942dup (p.Thr648AsnfsTer6) c.1939dup (p.Thr647AsnfsTer6) c.*1063dup (n.*1063dup) c.*1598dup (n.*1598dup) c.2151dup (n.2151dup) c.1771dup (p.Thr591AsnfsTer6) c.1819dup (p.Thr607AsnfsTer6) c.1915dup (p.Thr639AsnfsTer6) c.1861dup (p.Thr621AsnfsTer6) c.1822dup (p.Thr608AsnfsTer6) | ClinVar dbSNP |
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.33739344C>A | CA402176921 | ASXL3 | c.1943C>A (p.Thr648Lys) c.1940C>A (p.Thr647Lys) c.*1064C>A (n.*1064C>A) c.*1599C>A (n.*1599C>A) c.2152C>A (n.2152C>A) c.1772C>A (p.Thr591Lys) c.1820C>A (p.Thr607Lys) c.1916C>A (p.Thr639Lys) c.1862C>A (p.Thr621Lys) c.1823C>A (p.Thr608Lys) | |
18 | g.33739344C>G | CA402176922 | ASXL3 | c.1943C>G (p.Thr648Arg) c.1940C>G (p.Thr647Arg) c.*1064C>G (n.*1064C>G) c.*1599C>G (n.*1599C>G) c.2152C>G (n.2152C>G) c.1772C>G (p.Thr591Arg) c.1820C>G (p.Thr607Arg) c.1916C>G (p.Thr639Arg) c.1862C>G (p.Thr621Arg) c.1823C>G (p.Thr608Arg) | gnomAD v4 |
18 | g.33739344C>T | CA402176923 | ASXL3 | c.1943C>T (p.Thr648Ile) c.1940C>T (p.Thr647Ile) c.*1064C>T (n.*1064C>T) c.*1599C>T (n.*1599C>T) c.2152C>T (n.2152C>T) c.1772C>T (p.Thr591Ile) c.1820C>T (p.Thr607Ile) c.1916C>T (p.Thr639Ile) c.1862C>T (p.Thr621Ile) c.1823C>T (p.Thr608Ile) | |
18 | g.33739345A= | CA2294855937 | ASXL3 | c.1944A= (p.Thr648=) c.1941A= (p.Thr647=) c.*1065A= (n.*1065A=) c.*1600A= (n.*1600A=) c.2153A= (n.2153A=) c.1773A= (p.Thr591=) c.1821A= (p.Thr607=) c.1917A= (p.Thr639=) c.1863A= (p.Thr621=) c.1824A= (p.Thr608=) | |
18 | g.33739345A>C | CA503768968 | ASXL3 | c.1944A>C (p.Thr648=) c.1941A>C (p.Thr647=) c.*1065A>C (n.*1065A>C) c.*1600A>C (n.*1600A>C) c.2153A>C (n.2153A>C) c.1773A>C (p.Thr591=) c.1821A>C (p.Thr607=) c.1917A>C (p.Thr639=) c.1863A>C (p.Thr621=) c.1824A>C (p.Thr608=) | |
18 | g.33739345A>G | CA503768969 | ASXL3 | c.1944A>G (p.Thr648=) c.1941A>G (p.Thr647=) c.*1065A>G (n.*1065A>G) c.*1600A>G (n.*1600A>G) c.2153A>G (n.2153A>G) c.1773A>G (p.Thr591=) c.1821A>G (p.Thr607=) c.1917A>G (p.Thr639=) c.1863A>G (p.Thr621=) c.1824A>G (p.Thr608=) | dbSNP |
18 | g.33739345A>T | CA503768970 | ASXL3 | c.1944A>T (p.Thr648=) c.1941A>T (p.Thr647=) c.*1065A>T (n.*1065A>T) c.*1600A>T (n.*1600A>T) c.2153A>T (n.2153A>T) c.1773A>T (p.Thr591=) c.1821A>T (p.Thr607=) c.1917A>T (p.Thr639=) c.1863A>T (p.Thr621=) c.1824A>T (p.Thr608=) | |
18 | g.33739346A= | CA2294855938 | ASXL3 | c.1945A= (p.Thr649=) c.1942A= (p.Thr648=) c.*1066A= (n.*1066A=) c.*1601A= (n.*1601A=) c.2154A= (n.2154A=) c.1774A= (p.Thr592=) c.1822A= (p.Thr608=) c.1918A= (p.Thr640=) c.1864A= (p.Thr622=) c.1825A= (p.Thr609=) | |
18 | g.33739346A>C | CA402176924 | ASXL3 | c.1945A>C (p.Thr649Pro) c.1942A>C (p.Thr648Pro) c.*1066A>C (n.*1066A>C) c.*1601A>C (n.*1601A>C) c.2154A>C (n.2154A>C) c.1774A>C (p.Thr592Pro) c.1822A>C (p.Thr608Pro) c.1918A>C (p.Thr640Pro) c.1864A>C (p.Thr622Pro) c.1825A>C (p.Thr609Pro) | gnomAD v4 |
18 | g.33739346A>G | CA297787134 | ASXL3 | c.1945A>G (p.Thr649Ala) c.1942A>G (p.Thr648Ala) c.*1066A>G (n.*1066A>G) c.*1601A>G (n.*1601A>G) c.2154A>G (n.2154A>G) c.1774A>G (p.Thr592Ala) c.1822A>G (p.Thr608Ala) c.1918A>G (p.Thr640Ala) c.1864A>G (p.Thr622Ala) c.1825A>G (p.Thr609Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739346A>T | CA402176925 | ASXL3 | c.1945A>T (p.Thr649Ser) c.1942A>T (p.Thr648Ser) c.*1066A>T (n.*1066A>T) c.*1601A>T (n.*1601A>T) c.2154A>T (n.2154A>T) c.1774A>T (p.Thr592Ser) c.1822A>T (p.Thr608Ser) c.1918A>T (p.Thr640Ser) c.1864A>T (p.Thr622Ser) c.1825A>T (p.Thr609Ser) | |
18 | g.33739347C>A | CA402176926 | ASXL3 | c.1946C>A (p.Thr649Lys) c.1943C>A (p.Thr648Lys) c.*1067C>A (n.*1067C>A) c.*1602C>A (n.*1602C>A) c.2155C>A (n.2155C>A) c.1775C>A (p.Thr592Lys) c.1823C>A (p.Thr608Lys) c.1919C>A (p.Thr640Lys) c.1865C>A (p.Thr622Lys) c.1826C>A (p.Thr609Lys) | |
18 | g.33739347C= | CA2294855939 | ASXL3 | c.1946C= (p.Thr649=) c.1943C= (p.Thr648=) c.*1067C= (n.*1067C=) c.*1602C= (n.*1602C=) c.2155C= (n.2155C=) c.1775C= (p.Thr592=) c.1823C= (p.Thr608=) c.1919C= (p.Thr640=) c.1865C= (p.Thr622=) c.1826C= (p.Thr609=) | |
18 | g.33739347C>G | CA402176927 | ASXL3 | c.1946C>G (p.Thr649Arg) c.1943C>G (p.Thr648Arg) c.*1067C>G (n.*1067C>G) c.*1602C>G (n.*1602C>G) c.2155C>G (n.2155C>G) c.1775C>G (p.Thr592Arg) c.1823C>G (p.Thr608Arg) c.1919C>G (p.Thr640Arg) c.1865C>G (p.Thr622Arg) c.1826C>G (p.Thr609Arg) | |
18 | g.33739347C>T | CA297787137 | ASXL3 | c.1946C>T (p.Thr649Ile) c.1943C>T (p.Thr648Ile) c.*1067C>T (n.*1067C>T) c.*1602C>T (n.*1602C>T) c.2155C>T (n.2155C>T) c.1775C>T (p.Thr592Ile) c.1823C>T (p.Thr608Ile) c.1919C>T (p.Thr640Ile) c.1865C>T (p.Thr622Ile) c.1826C>T (p.Thr609Ile) | dbSNP gnomAD v4 |
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) |