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.33739200A>C | CA402176355 | ASXL3 | c.1799A>C (p.Glu600Ala) c.1796A>C (p.Glu599Ala) c.*920A>C (n.*920A>C) c.*1455A>C (n.*1455A>C) c.2008A>C (n.2008A>C) c.1628A>C (p.Glu543Ala) c.1676A>C (p.Glu559Ala) c.1772A>C (p.Glu591Ala) c.1718A>C (p.Glu573Ala) c.1679A>C (p.Glu560Ala) | |
18 | g.33739200A>G | CA402176356 | ASXL3 | c.1799A>G (p.Glu600Gly) c.1796A>G (p.Glu599Gly) c.*920A>G (n.*920A>G) c.*1455A>G (n.*1455A>G) c.2008A>G (n.2008A>G) c.1628A>G (p.Glu543Gly) c.1676A>G (p.Glu559Gly) c.1772A>G (p.Glu591Gly) c.1718A>G (p.Glu573Gly) c.1679A>G (p.Glu560Gly) | |
18 | g.33739200A>T | CA402176357 | ASXL3 | c.1799A>T (p.Glu600Val) c.1796A>T (p.Glu599Val) c.*920A>T (n.*920A>T) c.*1455A>T (n.*1455A>T) c.2008A>T (n.2008A>T) c.1628A>T (p.Glu543Val) c.1676A>T (p.Glu559Val) c.1772A>T (p.Glu591Val) c.1718A>T (p.Glu573Val) c.1679A>T (p.Glu560Val) | |
18 | g.33739201A>C | CA402176358 | ASXL3 | c.1800A>C (p.Glu600Asp) c.1797A>C (p.Glu599Asp) c.*921A>C (n.*921A>C) c.*1456A>C (n.*1456A>C) c.2009A>C (n.2009A>C) c.1629A>C (p.Glu543Asp) c.1677A>C (p.Glu559Asp) c.1773A>C (p.Glu591Asp) c.1719A>C (p.Glu573Asp) c.1680A>C (p.Glu560Asp) | |
18 | g.33739201A>G | CA503768740 | ASXL3 | c.1800A>G (p.Glu600=) c.1797A>G (p.Glu599=) c.*921A>G (n.*921A>G) c.*1456A>G (n.*1456A>G) c.2009A>G (n.2009A>G) c.1629A>G (p.Glu543=) c.1677A>G (p.Glu559=) c.1773A>G (p.Glu591=) c.1719A>G (p.Glu573=) c.1680A>G (p.Glu560=) | |
18 | g.33739201A>T | CA402176359 | ASXL3 | c.1800A>T (p.Glu600Asp) c.1797A>T (p.Glu599Asp) c.*921A>T (n.*921A>T) c.*1456A>T (n.*1456A>T) c.2009A>T (n.2009A>T) c.1629A>T (p.Glu543Asp) c.1677A>T (p.Glu559Asp) c.1773A>T (p.Glu591Asp) c.1719A>T (p.Glu573Asp) c.1680A>T (p.Glu560Asp) | |
18 | g.33739202G>A | CA297787020 | ASXL3 | c.1801G>A (p.Glu601Lys) c.1798G>A (p.Glu600Lys) c.*922G>A (n.*922G>A) c.*1457G>A (n.*1457G>A) c.2010G>A (n.2010G>A) c.1630G>A (p.Glu544Lys) c.1678G>A (p.Glu560Lys) c.1774G>A (p.Glu592Lys) c.1720G>A (p.Glu574Lys) c.1681G>A (p.Glu561Lys) | dbSNP gnomAD v2 COSMIC COSMIC |
18 | g.33739202G>C | CA402176361 | ASXL3 | c.1801G>C (p.Glu601Gln) c.1798G>C (p.Glu600Gln) c.*922G>C (n.*922G>C) c.*1457G>C (n.*1457G>C) c.2010G>C (n.2010G>C) c.1630G>C (p.Glu544Gln) c.1678G>C (p.Glu560Gln) c.1774G>C (p.Glu592Gln) c.1720G>C (p.Glu574Gln) c.1681G>C (p.Glu561Gln) | |
18 | g.33739202G= | CA2294855868 | ASXL3 | c.1801G= (p.Glu601=) c.1798G= (p.Glu600=) c.*922G= (n.*922G=) c.*1457G= (n.*1457G=) c.2010G= (n.2010G=) c.1630G= (p.Glu544=) c.1678G= (p.Glu560=) c.1774G= (p.Glu592=) c.1720G= (p.Glu574=) c.1681G= (p.Glu561=) | |
18 | g.33739202G>T | CA402176360 | ASXL3 | c.1801G>T (p.Glu601Ter) c.1798G>T (p.Glu600Ter) c.*922G>T (n.*922G>T) c.*1457G>T (n.*1457G>T) c.2010G>T (n.2010G>T) c.1630G>T (p.Glu544Ter) c.1678G>T (p.Glu560Ter) c.1774G>T (p.Glu592Ter) c.1720G>T (p.Glu574Ter) c.1681G>T (p.Glu561Ter) | |
18 | g.33739203A>C | CA402176362 | ASXL3 | c.1802A>C (p.Glu601Ala) c.1799A>C (p.Glu600Ala) c.*923A>C (n.*923A>C) c.*1458A>C (n.*1458A>C) c.2011A>C (n.2011A>C) c.1631A>C (p.Glu544Ala) c.1679A>C (p.Glu560Ala) c.1775A>C (p.Glu592Ala) c.1721A>C (p.Glu574Ala) c.1682A>C (p.Glu561Ala) | |
18 | g.33739203A>G | CA402176363 | ASXL3 | c.1802A>G (p.Glu601Gly) c.1799A>G (p.Glu600Gly) c.*923A>G (n.*923A>G) c.*1458A>G (n.*1458A>G) c.2011A>G (n.2011A>G) c.1631A>G (p.Glu544Gly) c.1679A>G (p.Glu560Gly) c.1775A>G (p.Glu592Gly) c.1721A>G (p.Glu574Gly) c.1682A>G (p.Glu561Gly) | |
18 | g.33739203A>T | CA402176364 | ASXL3 | c.1802A>T (p.Glu601Val) c.1799A>T (p.Glu600Val) c.*923A>T (n.*923A>T) c.*1458A>T (n.*1458A>T) c.2011A>T (n.2011A>T) c.1631A>T (p.Glu544Val) c.1679A>T (p.Glu560Val) c.1775A>T (p.Glu592Val) c.1721A>T (p.Glu574Val) c.1682A>T (p.Glu561Val) | |
18 | g.33739204A>C | CA402176365 | ASXL3 | c.1803A>C (p.Glu601Asp) c.1800A>C (p.Glu600Asp) c.*924A>C (n.*924A>C) c.*1459A>C (n.*1459A>C) c.2012A>C (n.2012A>C) c.1632A>C (p.Glu544Asp) c.1680A>C (p.Glu560Asp) c.1776A>C (p.Glu592Asp) c.1722A>C (p.Glu574Asp) c.1683A>C (p.Glu561Asp) | |
18 | g.33739204A>G | CA503768744 | ASXL3 | c.1803A>G (p.Glu601=) c.1800A>G (p.Glu600=) c.*924A>G (n.*924A>G) c.*1459A>G (n.*1459A>G) c.2012A>G (n.2012A>G) c.1632A>G (p.Glu544=) c.1680A>G (p.Glu560=) c.1776A>G (p.Glu592=) c.1722A>G (p.Glu574=) c.1683A>G (p.Glu561=) | COSMIC COSMIC |
18 | g.33739204A>T | CA402176366 | ASXL3 | c.1803A>T (p.Glu601Asp) c.1800A>T (p.Glu600Asp) c.*924A>T (n.*924A>T) c.*1459A>T (n.*1459A>T) c.2012A>T (n.2012A>T) c.1632A>T (p.Glu544Asp) c.1680A>T (p.Glu560Asp) c.1776A>T (p.Glu592Asp) c.1722A>T (p.Glu574Asp) c.1683A>T (p.Glu561Asp) | |
18 | g.33739205C>A | CA402176367 | ASXL3 | c.1804C>A (p.Gln602Lys) c.1801C>A (p.Gln601Lys) c.*925C>A (n.*925C>A) c.*1460C>A (n.*1460C>A) c.2013C>A (n.2013C>A) c.1633C>A (p.Gln545Lys) c.1681C>A (p.Gln561Lys) c.1777C>A (p.Gln593Lys) c.1723C>A (p.Gln575Lys) c.1684C>A (p.Gln562Lys) | |
18 | g.33739205C= | CA2294855869 | ASXL3 | c.1804C= (p.Gln602=) c.1801C= (p.Gln601=) c.*925C= (n.*925C=) c.*1460C= (n.*1460C=) c.2013C= (n.2013C=) c.1633C= (p.Gln545=) c.1681C= (p.Gln561=) c.1777C= (p.Gln593=) c.1723C= (p.Gln575=) c.1684C= (p.Gln562=) | |
18 | g.33739205C>G | CA402176368 | ASXL3 | c.1804C>G (p.Gln602Glu) c.1801C>G (p.Gln601Glu) c.*925C>G (n.*925C>G) c.*1460C>G (n.*1460C>G) c.2013C>G (n.2013C>G) c.1633C>G (p.Gln545Glu) c.1681C>G (p.Gln561Glu) c.1777C>G (p.Gln593Glu) c.1723C>G (p.Gln575Glu) c.1684C>G (p.Gln562Glu) | gnomAD v4 |
18 | g.33739205C>T | CA402176369 | ASXL3 | c.1804C>T (p.Gln602Ter) c.1801C>T (p.Gln601Ter) c.*925C>T (n.*925C>T) c.*1460C>T (n.*1460C>T) c.2013C>T (n.2013C>T) c.1633C>T (p.Gln545Ter) c.1681C>T (p.Gln561Ter) c.1777C>T (p.Gln593Ter) c.1723C>T (p.Gln575Ter) c.1684C>T (p.Gln562Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.33739206A>C | CA402176370 | ASXL3 | c.1805A>C (p.Gln602Pro) c.1802A>C (p.Gln601Pro) c.*926A>C (n.*926A>C) c.*1461A>C (n.*1461A>C) c.2014A>C (n.2014A>C) c.1634A>C (p.Gln545Pro) c.1682A>C (p.Gln561Pro) c.1778A>C (p.Gln593Pro) c.1724A>C (p.Gln575Pro) c.1685A>C (p.Gln562Pro) | |
18 | g.33739206A>G | CA402176371 | ASXL3 | c.1805A>G (p.Gln602Arg) c.1802A>G (p.Gln601Arg) c.*926A>G (n.*926A>G) c.*1461A>G (n.*1461A>G) c.2014A>G (n.2014A>G) c.1634A>G (p.Gln545Arg) c.1682A>G (p.Gln561Arg) c.1778A>G (p.Gln593Arg) c.1724A>G (p.Gln575Arg) c.1685A>G (p.Gln562Arg) | |
18 | g.33739206A>T | CA402176372 | ASXL3 | c.1805A>T (p.Gln602Leu) c.1802A>T (p.Gln601Leu) c.*926A>T (n.*926A>T) c.*1461A>T (n.*1461A>T) c.2014A>T (n.2014A>T) c.1634A>T (p.Gln545Leu) c.1682A>T (p.Gln561Leu) c.1778A>T (p.Gln593Leu) c.1724A>T (p.Gln575Leu) c.1685A>T (p.Gln562Leu) | |
18 | g.33739206dup | CA1139666022 | ASXL3 | c.1805dup (p.Leu603AlafsTer9) c.1802dup (p.Leu602AlafsTer9) c.*926dup (n.*926dup) c.*1461dup (n.*1461dup) c.2014dup (n.2014dup) c.1634dup (p.Leu546AlafsTer9) c.1682dup (p.Leu562AlafsTer9) c.1778dup (p.Leu594AlafsTer9) c.1724dup (p.Leu576AlafsTer9) c.1685dup (p.Leu563AlafsTer9) | ClinVar dbSNP |
18 | g.33739207G>A | CA503768750 | ASXL3 | c.1806G>A (p.Gln602=) c.1803G>A (p.Gln601=) c.*927G>A (n.*927G>A) c.*1462G>A (n.*1462G>A) c.2015G>A (n.2015G>A) c.1635G>A (p.Gln545=) c.1683G>A (p.Gln561=) c.1779G>A (p.Gln593=) c.1725G>A (p.Gln575=) c.1686G>A (p.Gln562=) | |
18 | g.33739207G>C | CA402176373 | ASXL3 | c.1806G>C (p.Gln602His) c.1803G>C (p.Gln601His) c.*927G>C (n.*927G>C) c.*1462G>C (n.*1462G>C) c.2015G>C (n.2015G>C) c.1635G>C (p.Gln545His) c.1683G>C (p.Gln561His) c.1779G>C (p.Gln593His) c.1725G>C (p.Gln575His) c.1686G>C (p.Gln562His) | |
18 | g.33739207G>T | CA402176374 | ASXL3 | c.1806G>T (p.Gln602His) c.1803G>T (p.Gln601His) c.*927G>T (n.*927G>T) c.*1462G>T (n.*1462G>T) c.2015G>T (n.2015G>T) c.1635G>T (p.Gln545His) c.1683G>T (p.Gln561His) c.1779G>T (p.Gln593His) c.1725G>T (p.Gln575His) c.1686G>T (p.Gln562His) | COSMIC COSMIC |
18 | g.33739208C>A | CA402176375 | ASXL3 | c.1807C>A (p.Leu603Ile) c.1804C>A (p.Leu602Ile) c.*928C>A (n.*928C>A) c.*1463C>A (n.*1463C>A) c.2016C>A (n.2016C>A) c.1636C>A (p.Leu546Ile) c.1684C>A (p.Leu562Ile) c.1780C>A (p.Leu594Ile) c.1726C>A (p.Leu576Ile) c.1687C>A (p.Leu563Ile) | |
18 | g.33739208C>G | CA402176377 | ASXL3 | c.1807C>G (p.Leu603Val) c.1804C>G (p.Leu602Val) c.*928C>G (n.*928C>G) c.*1463C>G (n.*1463C>G) c.2016C>G (n.2016C>G) c.1636C>G (p.Leu546Val) c.1684C>G (p.Leu562Val) c.1780C>G (p.Leu594Val) c.1726C>G (p.Leu576Val) c.1687C>G (p.Leu563Val) | |
18 | g.33739208C>T | CA402176376 | ASXL3 | c.1807C>T (p.Leu603Phe) c.1804C>T (p.Leu602Phe) c.*928C>T (n.*928C>T) c.*1463C>T (n.*1463C>T) c.2016C>T (n.2016C>T) c.1636C>T (p.Leu546Phe) c.1684C>T (p.Leu562Phe) c.1780C>T (p.Leu594Phe) c.1726C>T (p.Leu576Phe) c.1687C>T (p.Leu563Phe) | gnomAD v4 |
18 | g.33739209T>A | CA402176378 | ASXL3 | c.1808T>A (p.Leu603His) c.1805T>A (p.Leu602His) c.*929T>A (n.*929T>A) c.*1464T>A (n.*1464T>A) c.2017T>A (n.2017T>A) c.1637T>A (p.Leu546His) c.1685T>A (p.Leu562His) c.1781T>A (p.Leu594His) c.1727T>A (p.Leu576His) c.1688T>A (p.Leu563His) | |
18 | g.33739209T>C | CA402176379 | ASXL3 | c.1808T>C (p.Leu603Pro) c.1805T>C (p.Leu602Pro) c.*929T>C (n.*929T>C) c.*1464T>C (n.*1464T>C) c.2017T>C (n.2017T>C) c.1637T>C (p.Leu546Pro) c.1685T>C (p.Leu562Pro) c.1781T>C (p.Leu594Pro) c.1727T>C (p.Leu576Pro) c.1688T>C (p.Leu563Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739209T>G | CA402176380 | ASXL3 | c.1808T>G (p.Leu603Arg) c.1805T>G (p.Leu602Arg) c.*929T>G (n.*929T>G) c.*1464T>G (n.*1464T>G) c.2017T>G (n.2017T>G) c.1637T>G (p.Leu546Arg) c.1685T>G (p.Leu562Arg) c.1781T>G (p.Leu594Arg) c.1727T>G (p.Leu576Arg) c.1688T>G (p.Leu563Arg) | |
18 | g.33739209T= | CA2294855870 | ASXL3 | c.1808T= (p.Leu603=) c.1805T= (p.Leu602=) c.*929T= (n.*929T=) c.*1464T= (n.*1464T=) c.2017T= (n.2017T=) c.1637T= (p.Leu546=) c.1685T= (p.Leu562=) c.1781T= (p.Leu594=) c.1727T= (p.Leu576=) c.1688T= (p.Leu563=) | |
18 | g.33739210T>A | CA503768755 | ASXL3 | c.1809T>A (p.Leu603=) c.1806T>A (p.Leu602=) c.*930T>A (n.*930T>A) c.*1465T>A (n.*1465T>A) c.2018T>A (n.2018T>A) c.1638T>A (p.Leu546=) c.1686T>A (p.Leu562=) c.1782T>A (p.Leu594=) c.1728T>A (p.Leu576=) c.1689T>A (p.Leu563=) | |
18 | g.33739210T>C | CA503768756 | ASXL3 | c.1809T>C (p.Leu603=) c.1806T>C (p.Leu602=) c.*930T>C (n.*930T>C) c.*1465T>C (n.*1465T>C) c.2018T>C (n.2018T>C) c.1638T>C (p.Leu546=) c.1686T>C (p.Leu562=) c.1782T>C (p.Leu594=) c.1728T>C (p.Leu576=) c.1689T>C (p.Leu563=) | |
18 | g.33739210T>G | CA503768758 | ASXL3 | c.1809T>G (p.Leu603=) c.1806T>G (p.Leu602=) c.*930T>G (n.*930T>G) c.*1465T>G (n.*1465T>G) c.2018T>G (n.2018T>G) c.1638T>G (p.Leu546=) c.1686T>G (p.Leu562=) c.1782T>G (p.Leu594=) c.1728T>G (p.Leu576=) c.1689T>G (p.Leu563=) | gnomAD v4 |
18 | g.33739211T>A | CA402176381 | ASXL3 | c.1810T>A (p.Ser604Thr) c.1807T>A (p.Ser603Thr) c.*931T>A (n.*931T>A) c.*1466T>A (n.*1466T>A) c.2019T>A (n.2019T>A) c.1639T>A (p.Ser547Thr) c.1687T>A (p.Ser563Thr) c.1783T>A (p.Ser595Thr) c.1729T>A (p.Ser577Thr) c.1690T>A (p.Ser564Thr) | dbSNP gnomAD v4 |
18 | g.33739211T>C | CA402176382 | ASXL3 | c.1810T>C (p.Ser604Pro) c.1807T>C (p.Ser603Pro) c.*931T>C (n.*931T>C) c.*1466T>C (n.*1466T>C) c.2019T>C (n.2019T>C) c.1639T>C (p.Ser547Pro) c.1687T>C (p.Ser563Pro) c.1783T>C (p.Ser595Pro) c.1729T>C (p.Ser577Pro) c.1690T>C (p.Ser564Pro) | |
18 | g.33739211T>G | CA8933814 | ASXL3 | c.1810T>G (p.Ser604Ala) c.1807T>G (p.Ser603Ala) c.*931T>G (n.*931T>G) c.*1466T>G (n.*1466T>G) c.2019T>G (n.2019T>G) c.1639T>G (p.Ser547Ala) c.1687T>G (p.Ser563Ala) c.1783T>G (p.Ser595Ala) c.1729T>G (p.Ser577Ala) c.1690T>G (p.Ser564Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739211T= | CA2294855871 | ASXL3 | c.1810T= (p.Ser604=) c.1807T= (p.Ser603=) c.*931T= (n.*931T=) c.*1466T= (n.*1466T=) c.2019T= (n.2019T=) c.1639T= (p.Ser547=) c.1687T= (p.Ser563=) c.1783T= (p.Ser595=) c.1729T= (p.Ser577=) c.1690T= (p.Ser564=) | |
18 | g.33739212C>A | CA402176383 | ASXL3 | c.1811C>A (p.Ser604Ter) c.1808C>A (p.Ser603Ter) c.*932C>A (n.*932C>A) c.*1467C>A (n.*1467C>A) c.2020C>A (n.2020C>A) c.1640C>A (p.Ser547Ter) c.1688C>A (p.Ser563Ter) c.1784C>A (p.Ser595Ter) c.1730C>A (p.Ser577Ter) c.1691C>A (p.Ser564Ter) | dbSNP gnomAD v4 |
18 | g.33739212C= | CA2294855872 | ASXL3 | c.1811C= (p.Ser604=) c.1808C= (p.Ser603=) c.*932C= (n.*932C=) c.*1467C= (n.*1467C=) c.2020C= (n.2020C=) c.1640C= (p.Ser547=) c.1688C= (p.Ser563=) c.1784C= (p.Ser595=) c.1730C= (p.Ser577=) c.1691C= (p.Ser564=) | |
18 | g.33739212C>G | CA402176384 | ASXL3 | c.1811C>G (p.Ser604Ter) c.1808C>G (p.Ser603Ter) c.*932C>G (n.*932C>G) c.*1467C>G (n.*1467C>G) c.2020C>G (n.2020C>G) c.1640C>G (p.Ser547Ter) c.1688C>G (p.Ser563Ter) c.1784C>G (p.Ser595Ter) c.1730C>G (p.Ser577Ter) c.1691C>G (p.Ser564Ter) | ClinVar dbSNP |
18 | g.33739212C>T | CA8933815 | ASXL3 | c.1811C>T (p.Ser604Leu) c.1808C>T (p.Ser603Leu) c.*932C>T (n.*932C>T) c.*1467C>T (n.*1467C>T) c.2020C>T (n.2020C>T) c.1640C>T (p.Ser547Leu) c.1688C>T (p.Ser563Leu) c.1784C>T (p.Ser595Leu) c.1730C>T (p.Ser577Leu) c.1691C>T (p.Ser564Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739213A>C | CA503768761 | ASXL3 | c.1812A>C (p.Ser604=) c.1809A>C (p.Ser603=) c.*933A>C (n.*933A>C) c.*1468A>C (n.*1468A>C) c.2021A>C (n.2021A>C) c.1641A>C (p.Ser547=) c.1689A>C (p.Ser563=) c.1785A>C (p.Ser595=) c.1731A>C (p.Ser577=) c.1692A>C (p.Ser564=) | |
18 | g.33739213A>G | CA503768765 | ASXL3 | c.1812A>G (p.Ser604=) c.1809A>G (p.Ser603=) c.*933A>G (n.*933A>G) c.*1468A>G (n.*1468A>G) c.2021A>G (n.2021A>G) c.1641A>G (p.Ser547=) c.1689A>G (p.Ser563=) c.1785A>G (p.Ser595=) c.1731A>G (p.Ser577=) c.1692A>G (p.Ser564=) | |
18 | g.33739213A>T | CA503768763 | ASXL3 | c.1812A>T (p.Ser604=) c.1809A>T (p.Ser603=) c.*933A>T (n.*933A>T) c.*1468A>T (n.*1468A>T) c.2021A>T (n.2021A>T) c.1641A>T (p.Ser547=) c.1689A>T (p.Ser563=) c.1785A>T (p.Ser595=) c.1731A>T (p.Ser577=) c.1692A>T (p.Ser564=) | COSMIC COSMIC |
18 | g.33739214G>A | CA402176385 | ASXL3 | c.1813G>A (p.Glu605Lys) c.1810G>A (p.Glu604Lys) c.*934G>A (n.*934G>A) c.*1469G>A (n.*1469G>A) c.2022G>A (n.2022G>A) c.1642G>A (p.Glu548Lys) c.1690G>A (p.Glu564Lys) c.1786G>A (p.Glu596Lys) c.1732G>A (p.Glu578Lys) c.1693G>A (p.Glu565Lys) | |
18 | g.33739214G>C | CA402176386 | ASXL3 | c.1813G>C (p.Glu605Gln) c.1810G>C (p.Glu604Gln) c.*934G>C (n.*934G>C) c.*1469G>C (n.*1469G>C) c.2022G>C (n.2022G>C) c.1642G>C (p.Glu548Gln) c.1690G>C (p.Glu564Gln) c.1786G>C (p.Glu596Gln) c.1732G>C (p.Glu578Gln) c.1693G>C (p.Glu565Gln) | |
18 | g.33739214G>T | CA402176387 | ASXL3 | c.1813G>T (p.Glu605Ter) c.1810G>T (p.Glu604Ter) c.*934G>T (n.*934G>T) c.*1469G>T (n.*1469G>T) c.2022G>T (n.2022G>T) c.1642G>T (p.Glu548Ter) c.1690G>T (p.Glu564Ter) c.1786G>T (p.Glu596Ter) c.1732G>T (p.Glu578Ter) c.1693G>T (p.Glu565Ter) | |
18 | g.33739215A>C | CA402176388 | ASXL3 | c.1814A>C (p.Glu605Ala) c.1811A>C (p.Glu604Ala) c.*935A>C (n.*935A>C) c.*1470A>C (n.*1470A>C) c.2023A>C (n.2023A>C) c.1643A>C (p.Glu548Ala) c.1691A>C (p.Glu564Ala) c.1787A>C (p.Glu596Ala) c.1733A>C (p.Glu578Ala) c.1694A>C (p.Glu565Ala) | |
18 | g.33739215A>G | CA402176390 | ASXL3 | c.1814A>G (p.Glu605Gly) c.1811A>G (p.Glu604Gly) c.*935A>G (n.*935A>G) c.*1470A>G (n.*1470A>G) c.2023A>G (n.2023A>G) c.1643A>G (p.Glu548Gly) c.1691A>G (p.Glu564Gly) c.1787A>G (p.Glu596Gly) c.1733A>G (p.Glu578Gly) c.1694A>G (p.Glu565Gly) | gnomAD v4 |
18 | g.33739215A>T | CA402176389 | ASXL3 | c.1814A>T (p.Glu605Val) c.1811A>T (p.Glu604Val) c.*935A>T (n.*935A>T) c.*1470A>T (n.*1470A>T) c.2023A>T (n.2023A>T) c.1643A>T (p.Glu548Val) c.1691A>T (p.Glu564Val) c.1787A>T (p.Glu596Val) c.1733A>T (p.Glu578Val) c.1694A>T (p.Glu565Val) | |
18 | g.33739216A>C | CA402176391 | ASXL3 | c.1815A>C (p.Glu605Asp) c.1812A>C (p.Glu604Asp) c.*936A>C (n.*936A>C) c.*1471A>C (n.*1471A>C) c.2024A>C (n.2024A>C) c.1644A>C (p.Glu548Asp) c.1692A>C (p.Glu564Asp) c.1788A>C (p.Glu596Asp) c.1734A>C (p.Glu578Asp) c.1695A>C (p.Glu565Asp) | |
18 | g.33739216A>G | CA503768769 | ASXL3 | c.1815A>G (p.Glu605=) c.1812A>G (p.Glu604=) c.*936A>G (n.*936A>G) c.*1471A>G (n.*1471A>G) c.2024A>G (n.2024A>G) c.1644A>G (p.Glu548=) c.1692A>G (p.Glu564=) c.1788A>G (p.Glu596=) c.1734A>G (p.Glu578=) c.1695A>G (p.Glu565=) | |
18 | g.33739216A>T | CA402176392 | ASXL3 | c.1815A>T (p.Glu605Asp) c.1812A>T (p.Glu604Asp) c.*936A>T (n.*936A>T) c.*1471A>T (n.*1471A>T) c.2024A>T (n.2024A>T) c.1644A>T (p.Glu548Asp) c.1692A>T (p.Glu564Asp) c.1788A>T (p.Glu596Asp) c.1734A>T (p.Glu578Asp) c.1695A>T (p.Glu565Asp) | |
18 | g.33739217A>C | CA402176393 | ASXL3 | c.1816A>C (p.Asn606His) c.1813A>C (p.Asn605His) c.*937A>C (n.*937A>C) c.*1472A>C (n.*1472A>C) c.2025A>C (n.2025A>C) c.1645A>C (p.Asn549His) c.1693A>C (p.Asn565His) c.1789A>C (p.Asn597His) c.1735A>C (p.Asn579His) c.1696A>C (p.Asn566His) | |
18 | g.33739217A>G | CA402176394 | ASXL3 | c.1816A>G (p.Asn606Asp) c.1813A>G (p.Asn605Asp) c.*937A>G (n.*937A>G) c.*1472A>G (n.*1472A>G) c.2025A>G (n.2025A>G) c.1645A>G (p.Asn549Asp) c.1693A>G (p.Asn565Asp) c.1789A>G (p.Asn597Asp) c.1735A>G (p.Asn579Asp) c.1696A>G (p.Asn566Asp) | |
18 | g.33739217A>T | CA402176395 | ASXL3 | c.1816A>T (p.Asn606Tyr) c.1813A>T (p.Asn605Tyr) c.*937A>T (n.*937A>T) c.*1472A>T (n.*1472A>T) c.2025A>T (n.2025A>T) c.1645A>T (p.Asn549Tyr) c.1693A>T (p.Asn565Tyr) c.1789A>T (p.Asn597Tyr) c.1735A>T (p.Asn579Tyr) c.1696A>T (p.Asn566Tyr) | |
18 | g.33739218A= | CA2294855873 | ASXL3 | c.1817A= (p.Asn606=) c.1814A= (p.Asn605=) c.*938A= (n.*938A=) c.*1473A= (n.*1473A=) c.2026A= (n.2026A=) c.1646A= (p.Asn549=) c.1694A= (p.Asn565=) c.1790A= (p.Asn597=) c.1736A= (p.Asn579=) c.1697A= (p.Asn566=) | |
18 | g.33739218A>C | CA402176396 | ASXL3 | c.1817A>C (p.Asn606Thr) c.1814A>C (p.Asn605Thr) c.*938A>C (n.*938A>C) c.*1473A>C (n.*1473A>C) c.2026A>C (n.2026A>C) c.1646A>C (p.Asn549Thr) c.1694A>C (p.Asn565Thr) c.1790A>C (p.Asn597Thr) c.1736A>C (p.Asn579Thr) c.1697A>C (p.Asn566Thr) | |
18 | g.33739218A>G | CA402176397 | ASXL3 | c.1817A>G (p.Asn606Ser) c.1814A>G (p.Asn605Ser) c.*938A>G (n.*938A>G) c.*1473A>G (n.*1473A>G) c.2026A>G (n.2026A>G) c.1646A>G (p.Asn549Ser) c.1694A>G (p.Asn565Ser) c.1790A>G (p.Asn597Ser) c.1736A>G (p.Asn579Ser) c.1697A>G (p.Asn566Ser) | dbSNP |
18 | g.33739218A>T | CA402176398 | ASXL3 | c.1817A>T (p.Asn606Ile) c.1814A>T (p.Asn605Ile) c.*938A>T (n.*938A>T) c.*1473A>T (n.*1473A>T) c.2026A>T (n.2026A>T) c.1646A>T (p.Asn549Ile) c.1694A>T (p.Asn565Ile) c.1790A>T (p.Asn597Ile) c.1736A>T (p.Asn579Ile) c.1697A>T (p.Asn566Ile) | gnomAD v4 |
18 | g.33739219T>A | CA402176399 | ASXL3 | c.1818T>A (p.Asn606Lys) c.1815T>A (p.Asn605Lys) c.*939T>A (n.*939T>A) c.*1474T>A (n.*1474T>A) c.2027T>A (n.2027T>A) c.1647T>A (p.Asn549Lys) c.1695T>A (p.Asn565Lys) c.1791T>A (p.Asn597Lys) c.1737T>A (p.Asn579Lys) c.1698T>A (p.Asn566Lys) | |
18 | g.33739219T>C | CA503768774 | ASXL3 | c.1818T>C (p.Asn606=) c.1815T>C (p.Asn605=) c.*939T>C (n.*939T>C) c.*1474T>C (n.*1474T>C) c.2027T>C (n.2027T>C) c.1647T>C (p.Asn549=) c.1695T>C (p.Asn565=) c.1791T>C (p.Asn597=) c.1737T>C (p.Asn579=) c.1698T>C (p.Asn566=) | |
18 | g.33739219T>G | CA402176400 | ASXL3 | c.1818T>G (p.Asn606Lys) c.1815T>G (p.Asn605Lys) c.*939T>G (n.*939T>G) c.*1474T>G (n.*1474T>G) c.2027T>G (n.2027T>G) c.1647T>G (p.Asn549Lys) c.1695T>G (p.Asn565Lys) c.1791T>G (p.Asn597Lys) c.1737T>G (p.Asn579Lys) c.1698T>G (p.Asn566Lys) | |
18 | g.33739220G>A | CA402176401 | ASXL3 | c.1819G>A (p.Ala607Thr) c.1816G>A (p.Ala606Thr) c.*940G>A (n.*940G>A) c.*1475G>A (n.*1475G>A) c.2028G>A (n.2028G>A) c.1648G>A (p.Ala550Thr) c.1696G>A (p.Ala566Thr) c.1792G>A (p.Ala598Thr) c.1738G>A (p.Ala580Thr) c.1699G>A (p.Ala567Thr) | |
18 | g.33739220G>C | CA402176402 | ASXL3 | c.1819G>C (p.Ala607Pro) c.1816G>C (p.Ala606Pro) c.*940G>C (n.*940G>C) c.*1475G>C (n.*1475G>C) c.2028G>C (n.2028G>C) c.1648G>C (p.Ala550Pro) c.1696G>C (p.Ala566Pro) c.1792G>C (p.Ala598Pro) c.1738G>C (p.Ala580Pro) c.1699G>C (p.Ala567Pro) | gnomAD v4 |
18 | g.33739220G= | CA2294855874 | ASXL3 | c.1819G= (p.Ala607=) c.1816G= (p.Ala606=) c.*940G= (n.*940G=) c.*1475G= (n.*1475G=) c.2028G= (n.2028G=) c.1648G= (p.Ala550=) c.1696G= (p.Ala566=) c.1792G= (p.Ala598=) c.1738G= (p.Ala580=) c.1699G= (p.Ala567=) | |
18 | g.33739220G>T | CA8933816 | ASXL3 | c.1819G>T (p.Ala607Ser) c.1816G>T (p.Ala606Ser) c.*940G>T (n.*940G>T) c.*1475G>T (n.*1475G>T) c.2028G>T (n.2028G>T) c.1648G>T (p.Ala550Ser) c.1696G>T (p.Ala566Ser) c.1792G>T (p.Ala598Ser) c.1738G>T (p.Ala580Ser) c.1699G>T (p.Ala567Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739221C>A | CA402176403 | ASXL3 | c.1820C>A (p.Ala607Asp) c.1817C>A (p.Ala606Asp) c.*941C>A (n.*941C>A) c.*1476C>A (n.*1476C>A) c.2029C>A (n.2029C>A) c.1649C>A (p.Ala550Asp) c.1697C>A (p.Ala566Asp) c.1793C>A (p.Ala598Asp) c.1739C>A (p.Ala580Asp) c.1700C>A (p.Ala567Asp) | |
18 | g.33739221C>G | CA402176404 | ASXL3 | c.1820C>G (p.Ala607Gly) c.1817C>G (p.Ala606Gly) c.*941C>G (n.*941C>G) c.*1476C>G (n.*1476C>G) c.2029C>G (n.2029C>G) c.1649C>G (p.Ala550Gly) c.1697C>G (p.Ala566Gly) c.1793C>G (p.Ala598Gly) c.1739C>G (p.Ala580Gly) c.1700C>G (p.Ala567Gly) | |
18 | g.33739221C>T | CA402176405 | ASXL3 | c.1820C>T (p.Ala607Val) c.1817C>T (p.Ala606Val) c.*941C>T (n.*941C>T) c.*1476C>T (n.*1476C>T) c.2029C>T (n.2029C>T) c.1649C>T (p.Ala550Val) c.1697C>T (p.Ala566Val) c.1793C>T (p.Ala598Val) c.1739C>T (p.Ala580Val) c.1700C>T (p.Ala567Val) | gnomAD v4 |
18 | g.33739222C>A | CA503768777 | ASXL3 | c.1821C>A (p.Ala607=) c.1818C>A (p.Ala606=) c.*942C>A (n.*942C>A) c.*1477C>A (n.*1477C>A) c.2030C>A (n.2030C>A) c.1650C>A (p.Ala550=) c.1698C>A (p.Ala566=) c.1794C>A (p.Ala598=) c.1740C>A (p.Ala580=) c.1701C>A (p.Ala567=) | gnomAD v4 |
18 | g.33739222C>G | CA503768779 | ASXL3 | c.1821C>G (p.Ala607=) c.1818C>G (p.Ala606=) c.*942C>G (n.*942C>G) c.*1477C>G (n.*1477C>G) c.2030C>G (n.2030C>G) c.1650C>G (p.Ala550=) c.1698C>G (p.Ala566=) c.1794C>G (p.Ala598=) c.1740C>G (p.Ala580=) c.1701C>G (p.Ala567=) | |
18 | g.33739222C>T | CA503768781 | ASXL3 | c.1821C>T (p.Ala607=) c.1818C>T (p.Ala606=) c.*942C>T (n.*942C>T) c.*1477C>T (n.*1477C>T) c.2030C>T (n.2030C>T) c.1650C>T (p.Ala550=) c.1698C>T (p.Ala566=) c.1794C>T (p.Ala598=) c.1740C>T (p.Ala580=) c.1701C>T (p.Ala567=) | |
18 | g.33739223T>A | CA402176406 | ASXL3 | c.1822T>A (p.Cys608Ser) c.1819T>A (p.Cys607Ser) c.*943T>A (n.*943T>A) c.*1478T>A (n.*1478T>A) c.2031T>A (n.2031T>A) c.1651T>A (p.Cys551Ser) c.1699T>A (p.Cys567Ser) c.1795T>A (p.Cys599Ser) c.1741T>A (p.Cys581Ser) c.1702T>A (p.Cys568Ser) | |
18 | g.33739223T>C | CA402176407 | ASXL3 | c.1822T>C (p.Cys608Arg) c.1819T>C (p.Cys607Arg) c.*943T>C (n.*943T>C) c.*1478T>C (n.*1478T>C) c.2031T>C (n.2031T>C) c.1651T>C (p.Cys551Arg) c.1699T>C (p.Cys567Arg) c.1795T>C (p.Cys599Arg) c.1741T>C (p.Cys581Arg) c.1702T>C (p.Cys568Arg) | |
18 | g.33739223T>G | CA8933817 | ASXL3 | c.1822T>G (p.Cys608Gly) c.1819T>G (p.Cys607Gly) c.*943T>G (n.*943T>G) c.*1478T>G (n.*1478T>G) c.2031T>G (n.2031T>G) c.1651T>G (p.Cys551Gly) c.1699T>G (p.Cys567Gly) c.1795T>G (p.Cys599Gly) c.1741T>G (p.Cys581Gly) c.1702T>G (p.Cys568Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739223T= | CA2294855875 | ASXL3 | c.1822T= (p.Cys608=) c.1819T= (p.Cys607=) c.*943T= (n.*943T=) c.*1478T= (n.*1478T=) c.2031T= (n.2031T=) c.1651T= (p.Cys551=) c.1699T= (p.Cys567=) c.1795T= (p.Cys599=) c.1741T= (p.Cys581=) c.1702T= (p.Cys568=) | |
18 | g.33739224G>A | CA402176410 | ASXL3 | c.1823G>A (p.Cys608Tyr) c.1820G>A (p.Cys607Tyr) c.*944G>A (n.*944G>A) c.*1479G>A (n.*1479G>A) c.2032G>A (n.2032G>A) c.1652G>A (p.Cys551Tyr) c.1700G>A (p.Cys567Tyr) c.1796G>A (p.Cys599Tyr) c.1742G>A (p.Cys581Tyr) c.1703G>A (p.Cys568Tyr) | |
18 | g.33739224G>C | CA402176408 | ASXL3 | c.1823G>C (p.Cys608Ser) c.1820G>C (p.Cys607Ser) c.*944G>C (n.*944G>C) c.*1479G>C (n.*1479G>C) c.2032G>C (n.2032G>C) c.1652G>C (p.Cys551Ser) c.1700G>C (p.Cys567Ser) c.1796G>C (p.Cys599Ser) c.1742G>C (p.Cys581Ser) c.1703G>C (p.Cys568Ser) | gnomAD v3 gnomAD v4 |
18 | g.33739224G>T | CA402176409 | ASXL3 | c.1823G>T (p.Cys608Phe) c.1820G>T (p.Cys607Phe) c.*944G>T (n.*944G>T) c.*1479G>T (n.*1479G>T) c.2032G>T (n.2032G>T) c.1652G>T (p.Cys551Phe) c.1700G>T (p.Cys567Phe) c.1796G>T (p.Cys599Phe) c.1742G>T (p.Cys581Phe) c.1703G>T (p.Cys568Phe) | |
18 | g.33739224_33739225delinsGC | CA2294855876 | ASXL3 | c.1823_1824delinsGC (p.Cys608=) c.1820_1821delinsGC (p.Cys607=) c.*944_*945delinsGC (n.*944_*945delinsGC) c.*1479_*1480delinsGC (n.*1479_*1480delinsGC) c.2032_2033delinsGC (n.2032_2033delinsGC) c.1652_1653delinsGC (p.Cys551=) c.1700_1701delinsGC (p.Cys567=) c.1796_1797delinsGC (p.Cys599=) c.1742_1743delinsGC (p.Cys581=) c.1703_1704delinsGC (p.Cys568=) | |
18 | g.33739225del | CA1139666023 | ASXL3 | c.1824del (p.Cys608Ter) c.1821del (p.Cys607Ter) c.*945del (n.*945del) c.*1480del (n.*1480del) c.2033del (n.2033del) c.1653del (p.Cys551Ter) c.1701del (p.Cys567Ter) c.1797del (p.Cys599Ter) c.1743del (p.Cys581Ter) c.1704del (p.Cys568Ter) | ClinVar dbSNP |
18 | g.33739225C>A | CA402176411 | ASXL3 | c.1824C>A (p.Cys608Ter) c.1821C>A (p.Cys607Ter) c.*945C>A (n.*945C>A) c.*1480C>A (n.*1480C>A) c.2033C>A (n.2033C>A) c.1653C>A (p.Cys551Ter) c.1701C>A (p.Cys567Ter) c.1797C>A (p.Cys599Ter) c.1743C>A (p.Cys581Ter) c.1704C>A (p.Cys568Ter) | |
18 | g.33739225C>G | CA402176412 | ASXL3 | c.1824C>G (p.Cys608Trp) c.1821C>G (p.Cys607Trp) c.*945C>G (n.*945C>G) c.*1480C>G (n.*1480C>G) c.2033C>G (n.2033C>G) c.1653C>G (p.Cys551Trp) c.1701C>G (p.Cys567Trp) c.1797C>G (p.Cys599Trp) c.1743C>G (p.Cys581Trp) c.1704C>G (p.Cys568Trp) | |
18 | g.33739225C>T | CA503768787 | ASXL3 | c.1824C>T (p.Cys608=) c.1821C>T (p.Cys607=) c.*945C>T (n.*945C>T) c.*1480C>T (n.*1480C>T) c.2033C>T (n.2033C>T) c.1653C>T (p.Cys551=) c.1701C>T (p.Cys567=) c.1797C>T (p.Cys599=) c.1743C>T (p.Cys581=) c.1704C>T (p.Cys568=) | gnomAD v4 |
18 | g.33739226A>C | CA402176413 | ASXL3 | c.1825A>C (p.Ile609Leu) c.1822A>C (p.Ile608Leu) c.*946A>C (n.*946A>C) c.*1481A>C (n.*1481A>C) c.2034A>C (n.2034A>C) c.1654A>C (p.Ile552Leu) c.1702A>C (p.Ile568Leu) c.1798A>C (p.Ile600Leu) c.1744A>C (p.Ile582Leu) c.1705A>C (p.Ile569Leu) | |
18 | g.33739226A>G | CA402176414 | ASXL3 | c.1825A>G (p.Ile609Val) c.1822A>G (p.Ile608Val) c.*946A>G (n.*946A>G) c.*1481A>G (n.*1481A>G) c.2034A>G (n.2034A>G) c.1654A>G (p.Ile552Val) c.1702A>G (p.Ile568Val) c.1798A>G (p.Ile600Val) c.1744A>G (p.Ile582Val) c.1705A>G (p.Ile569Val) | |
18 | g.33739226A>T | CA402176415 | ASXL3 | c.1825A>T (p.Ile609Phe) c.1822A>T (p.Ile608Phe) c.*946A>T (n.*946A>T) c.*1481A>T (n.*1481A>T) c.2034A>T (n.2034A>T) c.1654A>T (p.Ile552Phe) c.1702A>T (p.Ile568Phe) c.1798A>T (p.Ile600Phe) c.1744A>T (p.Ile582Phe) c.1705A>T (p.Ile569Phe) | |
18 | g.33739227T>A | CA297787038 | ASXL3 | c.1826T>A (p.Ile609Asn) c.1823T>A (p.Ile608Asn) c.*947T>A (n.*947T>A) c.*1482T>A (n.*1482T>A) c.2035T>A (n.2035T>A) c.1655T>A (p.Ile552Asn) c.1703T>A (p.Ile568Asn) c.1799T>A (p.Ile600Asn) c.1745T>A (p.Ile582Asn) c.1706T>A (p.Ile569Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739227T>C | CA402176418 | ASXL3 | c.1826T>C (p.Ile609Thr) c.1823T>C (p.Ile608Thr) c.*947T>C (n.*947T>C) c.*1482T>C (n.*1482T>C) c.2035T>C (n.2035T>C) c.1655T>C (p.Ile552Thr) c.1703T>C (p.Ile568Thr) c.1799T>C (p.Ile600Thr) c.1745T>C (p.Ile582Thr) c.1706T>C (p.Ile569Thr) | |
18 | g.33739227T>G | CA402176416 | ASXL3 | c.1826T>G (p.Ile609Ser) c.1823T>G (p.Ile608Ser) c.*947T>G (n.*947T>G) c.*1482T>G (n.*1482T>G) c.2035T>G (n.2035T>G) c.1655T>G (p.Ile552Ser) c.1703T>G (p.Ile568Ser) c.1799T>G (p.Ile600Ser) c.1745T>G (p.Ile582Ser) c.1706T>G (p.Ile569Ser) | |
18 | g.33739227T= | CA2294855877 | ASXL3 | c.1826T= (p.Ile609=) c.1823T= (p.Ile608=) c.*947T= (n.*947T=) c.*1482T= (n.*1482T=) c.2035T= (n.2035T=) c.1655T= (p.Ile552=) c.1703T= (p.Ile568=) c.1799T= (p.Ile600=) c.1745T= (p.Ile582=) c.1706T= (p.Ile569=) | |
18 | g.33739228C>A | CA503768790 | ASXL3 | c.1827C>A (p.Ile609=) c.1824C>A (p.Ile608=) c.*948C>A (n.*948C>A) c.*1483C>A (n.*1483C>A) c.2036C>A (n.2036C>A) c.1656C>A (p.Ile552=) c.1704C>A (p.Ile568=) c.1800C>A (p.Ile600=) c.1746C>A (p.Ile582=) c.1707C>A (p.Ile569=) | gnomAD v4 |
18 | g.33739228C= | CA2294855878 | ASXL3 | c.1827C= (p.Ile609=) c.1824C= (p.Ile608=) c.*948C= (n.*948C=) c.*1483C= (n.*1483C=) c.2036C= (n.2036C=) c.1656C= (p.Ile552=) c.1704C= (p.Ile568=) c.1800C= (p.Ile600=) c.1746C= (p.Ile582=) c.1707C= (p.Ile569=) | |
18 | g.33739228C>G | CA8933818 | ASXL3 | c.1827C>G (p.Ile609Met) c.1824C>G (p.Ile608Met) c.*948C>G (n.*948C>G) c.*1483C>G (n.*1483C>G) c.2036C>G (n.2036C>G) c.1656C>G (p.Ile552Met) c.1704C>G (p.Ile568Met) c.1800C>G (p.Ile600Met) c.1746C>G (p.Ile582Met) c.1707C>G (p.Ile569Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739228C>T | CA503768791 | ASXL3 | c.1827C>T (p.Ile609=) c.1824C>T (p.Ile608=) c.*948C>T (n.*948C>T) c.*1483C>T (n.*1483C>T) c.2036C>T (n.2036C>T) c.1656C>T (p.Ile552=) c.1704C>T (p.Ile568=) c.1800C>T (p.Ile600=) c.1746C>T (p.Ile582=) c.1707C>T (p.Ile569=) | gnomAD v4 |
18 | g.33739229T>A | CA402176422 | ASXL3 | c.1828T>A (p.Ser610Thr) c.1825T>A (p.Ser609Thr) c.*949T>A (n.*949T>A) c.*1484T>A (n.*1484T>A) c.2037T>A (n.2037T>A) c.1657T>A (p.Ser553Thr) c.1705T>A (p.Ser569Thr) c.1801T>A (p.Ser601Thr) c.1747T>A (p.Ser583Thr) c.1708T>A (p.Ser570Thr) | |
18 | g.33739229T>C | CA402176425 | ASXL3 | c.1828T>C (p.Ser610Pro) c.1825T>C (p.Ser609Pro) c.*949T>C (n.*949T>C) c.*1484T>C (n.*1484T>C) c.2037T>C (n.2037T>C) c.1657T>C (p.Ser553Pro) c.1705T>C (p.Ser569Pro) c.1801T>C (p.Ser601Pro) c.1747T>C (p.Ser583Pro) c.1708T>C (p.Ser570Pro) | |
18 | g.33739229T>G | CA402176427 | ASXL3 | c.1828T>G (p.Ser610Ala) c.1825T>G (p.Ser609Ala) c.*949T>G (n.*949T>G) c.*1484T>G (n.*1484T>G) c.2037T>G (n.2037T>G) c.1657T>G (p.Ser553Ala) c.1705T>G (p.Ser569Ala) c.1801T>G (p.Ser601Ala) c.1747T>G (p.Ser583Ala) c.1708T>G (p.Ser570Ala) | |
18 | g.33739230C>A | CA402176431 | ASXL3 | c.1829C>A (p.Ser610Tyr) c.1826C>A (p.Ser609Tyr) c.*950C>A (n.*950C>A) c.*1485C>A (n.*1485C>A) c.2038C>A (n.2038C>A) c.1658C>A (p.Ser553Tyr) c.1706C>A (p.Ser569Tyr) c.1802C>A (p.Ser601Tyr) c.1748C>A (p.Ser583Tyr) c.1709C>A (p.Ser570Tyr) | |
18 | g.33739230C>G | CA402176438 | ASXL3 | c.1829C>G (p.Ser610Cys) c.1826C>G (p.Ser609Cys) c.*950C>G (n.*950C>G) c.*1485C>G (n.*1485C>G) c.2038C>G (n.2038C>G) c.1658C>G (p.Ser553Cys) c.1706C>G (p.Ser569Cys) c.1802C>G (p.Ser601Cys) c.1748C>G (p.Ser583Cys) c.1709C>G (p.Ser570Cys) | |
18 | g.33739230C>T | CA402176441 | ASXL3 | c.1829C>T (p.Ser610Phe) c.1826C>T (p.Ser609Phe) c.*950C>T (n.*950C>T) c.*1485C>T (n.*1485C>T) c.2038C>T (n.2038C>T) c.1658C>T (p.Ser553Phe) c.1706C>T (p.Ser569Phe) c.1802C>T (p.Ser601Phe) c.1748C>T (p.Ser583Phe) c.1709C>T (p.Ser570Phe) | gnomAD v4 |
18 | g.33739231T>A | CA503768795 | ASXL3 | c.1830T>A (p.Ser610=) c.1827T>A (p.Ser609=) c.*951T>A (n.*951T>A) c.*1486T>A (n.*1486T>A) c.2039T>A (n.2039T>A) c.1659T>A (p.Ser553=) c.1707T>A (p.Ser569=) c.1803T>A (p.Ser601=) c.1749T>A (p.Ser583=) c.1710T>A (p.Ser570=) | |
18 | g.33739231T>C | CA503768797 | ASXL3 | c.1830T>C (p.Ser610=) c.1827T>C (p.Ser609=) c.*951T>C (n.*951T>C) c.*1486T>C (n.*1486T>C) c.2039T>C (n.2039T>C) c.1659T>C (p.Ser553=) c.1707T>C (p.Ser569=) c.1803T>C (p.Ser601=) c.1749T>C (p.Ser583=) c.1710T>C (p.Ser570=) | |
18 | g.33739231T>G | CA503768799 | ASXL3 | c.1830T>G (p.Ser610=) c.1827T>G (p.Ser609=) c.*951T>G (n.*951T>G) c.*1486T>G (n.*1486T>G) c.2039T>G (n.2039T>G) c.1659T>G (p.Ser553=) c.1707T>G (p.Ser569=) c.1803T>G (p.Ser601=) c.1749T>G (p.Ser583=) c.1710T>G (p.Ser570=) | |
18 | g.33739232G>A | CA402176444 | ASXL3 | c.1831G>A (p.Glu611Lys) c.1828G>A (p.Glu610Lys) c.*952G>A (n.*952G>A) c.*1487G>A (n.*1487G>A) c.2040G>A (n.2040G>A) c.1660G>A (p.Glu554Lys) c.1708G>A (p.Glu570Lys) c.1804G>A (p.Glu602Lys) c.1750G>A (p.Glu584Lys) c.1711G>A (p.Glu571Lys) | ClinVar dbSNP |
18 | g.33739232G>C | CA402176445 | ASXL3 | c.1831G>C (p.Glu611Gln) c.1828G>C (p.Glu610Gln) c.*952G>C (n.*952G>C) c.*1487G>C (n.*1487G>C) c.2040G>C (n.2040G>C) c.1660G>C (p.Glu554Gln) c.1708G>C (p.Glu570Gln) c.1804G>C (p.Glu602Gln) c.1750G>C (p.Glu584Gln) c.1711G>C (p.Glu571Gln) | |
18 | g.33739232G>T | CA402176447 | ASXL3 | c.1831G>T (p.Glu611Ter) c.1828G>T (p.Glu610Ter) c.*952G>T (n.*952G>T) c.*1487G>T (n.*1487G>T) c.2040G>T (n.2040G>T) c.1660G>T (p.Glu554Ter) c.1708G>T (p.Glu570Ter) c.1804G>T (p.Glu602Ter) c.1750G>T (p.Glu584Ter) c.1711G>T (p.Glu571Ter) | |
18 | g.33739233A>C | CA402176450 | ASXL3 | c.1832A>C (p.Glu611Ala) c.1829A>C (p.Glu610Ala) c.*953A>C (n.*953A>C) c.*1488A>C (n.*1488A>C) c.2041A>C (n.2041A>C) c.1661A>C (p.Glu554Ala) c.1709A>C (p.Glu570Ala) c.1805A>C (p.Glu602Ala) c.1751A>C (p.Glu584Ala) c.1712A>C (p.Glu571Ala) | |
18 | g.33739233A>G | CA402176452 | ASXL3 | c.1832A>G (p.Glu611Gly) c.1829A>G (p.Glu610Gly) c.*953A>G (n.*953A>G) c.*1488A>G (n.*1488A>G) c.2041A>G (n.2041A>G) c.1661A>G (p.Glu554Gly) c.1709A>G (p.Glu570Gly) c.1805A>G (p.Glu602Gly) c.1751A>G (p.Glu584Gly) c.1712A>G (p.Glu571Gly) | |
18 | g.33739233A>T | CA402176455 | ASXL3 | c.1832A>T (p.Glu611Val) c.1829A>T (p.Glu610Val) c.*953A>T (n.*953A>T) c.*1488A>T (n.*1488A>T) c.2041A>T (n.2041A>T) c.1661A>T (p.Glu554Val) c.1709A>T (p.Glu570Val) c.1805A>T (p.Glu602Val) c.1751A>T (p.Glu584Val) c.1712A>T (p.Glu571Val) | |
18 | g.33739234A>C | CA402176458 | ASXL3 | c.1833A>C (p.Glu611Asp) c.1830A>C (p.Glu610Asp) c.*954A>C (n.*954A>C) c.*1489A>C (n.*1489A>C) c.2042A>C (n.2042A>C) c.1662A>C (p.Glu554Asp) c.1710A>C (p.Glu570Asp) c.1806A>C (p.Glu602Asp) c.1752A>C (p.Glu584Asp) c.1713A>C (p.Glu571Asp) | |
18 | g.33739234A>G | CA503768803 | ASXL3 | c.1833A>G (p.Glu611=) c.1830A>G (p.Glu610=) c.*954A>G (n.*954A>G) c.*1489A>G (n.*1489A>G) c.2042A>G (n.2042A>G) c.1662A>G (p.Glu554=) c.1710A>G (p.Glu570=) c.1806A>G (p.Glu602=) c.1752A>G (p.Glu584=) c.1713A>G (p.Glu571=) | |
18 | g.33739234A>T | CA402176460 | ASXL3 | c.1833A>T (p.Glu611Asp) c.1830A>T (p.Glu610Asp) c.*954A>T (n.*954A>T) c.*1489A>T (n.*1489A>T) c.2042A>T (n.2042A>T) c.1662A>T (p.Glu554Asp) c.1710A>T (p.Glu570Asp) c.1806A>T (p.Glu602Asp) c.1752A>T (p.Glu584Asp) c.1713A>T (p.Glu571Asp) | |
18 | g.33739235A>C | CA402176465 | ASXL3 | c.1834A>C (p.Thr612Pro) c.1831A>C (p.Thr611Pro) c.*955A>C (n.*955A>C) c.*1490A>C (n.*1490A>C) c.2043A>C (n.2043A>C) c.1663A>C (p.Thr555Pro) c.1711A>C (p.Thr571Pro) c.1807A>C (p.Thr603Pro) c.1753A>C (p.Thr585Pro) c.1714A>C (p.Thr572Pro) | |
18 | g.33739235A>G | CA402176469 | ASXL3 | c.1834A>G (p.Thr612Ala) c.1831A>G (p.Thr611Ala) c.*955A>G (n.*955A>G) c.*1490A>G (n.*1490A>G) c.2043A>G (n.2043A>G) c.1663A>G (p.Thr555Ala) c.1711A>G (p.Thr571Ala) c.1807A>G (p.Thr603Ala) c.1753A>G (p.Thr585Ala) c.1714A>G (p.Thr572Ala) | |
18 | g.33739235A>T | CA402176467 | ASXL3 | c.1834A>T (p.Thr612Ser) c.1831A>T (p.Thr611Ser) c.*955A>T (n.*955A>T) c.*1490A>T (n.*1490A>T) c.2043A>T (n.2043A>T) c.1663A>T (p.Thr555Ser) c.1711A>T (p.Thr571Ser) c.1807A>T (p.Thr603Ser) c.1753A>T (p.Thr585Ser) c.1714A>T (p.Thr572Ser) | |
18 | g.33739236C>A | CA402176472 | ASXL3 | c.1835C>A (p.Thr612Lys) c.1832C>A (p.Thr611Lys) c.*956C>A (n.*956C>A) c.*1491C>A (n.*1491C>A) c.2044C>A (n.2044C>A) c.1664C>A (p.Thr555Lys) c.1712C>A (p.Thr571Lys) c.1808C>A (p.Thr603Lys) c.1754C>A (p.Thr585Lys) c.1715C>A (p.Thr572Lys) | |
18 | g.33739236C= | CA2294855879 | ASXL3 | c.1835C= (p.Thr612=) c.1832C= (p.Thr611=) c.*956C= (n.*956C=) c.*1491C= (n.*1491C=) c.2044C= (n.2044C=) c.1664C= (p.Thr555=) c.1712C= (p.Thr571=) c.1808C= (p.Thr603=) c.1754C= (p.Thr585=) c.1715C= (p.Thr572=) | |
18 | g.33739236C>G | CA402176476 | ASXL3 | c.1835C>G (p.Thr612Arg) c.1832C>G (p.Thr611Arg) c.*956C>G (n.*956C>G) c.*1491C>G (n.*1491C>G) c.2044C>G (n.2044C>G) c.1664C>G (p.Thr555Arg) c.1712C>G (p.Thr571Arg) c.1808C>G (p.Thr603Arg) c.1754C>G (p.Thr585Arg) c.1715C>G (p.Thr572Arg) | |
18 | g.33739236C>T | CA8933819 | ASXL3 | c.1835C>T (p.Thr612Met) c.1832C>T (p.Thr611Met) c.*956C>T (n.*956C>T) c.*1491C>T (n.*1491C>T) c.2044C>T (n.2044C>T) c.1664C>T (p.Thr555Met) c.1712C>T (p.Thr571Met) c.1808C>T (p.Thr603Met) c.1754C>T (p.Thr585Met) c.1715C>T (p.Thr572Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739237G>A | CA8933820 | ASXL3 | c.1836G>A (p.Thr612=) c.1833G>A (p.Thr611=) c.*957G>A (n.*957G>A) c.*1492G>A (n.*1492G>A) c.2045G>A (n.2045G>A) c.1665G>A (p.Thr555=) c.1713G>A (p.Thr571=) c.1809G>A (p.Thr603=) c.1755G>A (p.Thr585=) c.1716G>A (p.Thr572=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739237G>C | CA503768807 | ASXL3 | c.1836G>C (p.Thr612=) c.1833G>C (p.Thr611=) c.*957G>C (n.*957G>C) c.*1492G>C (n.*1492G>C) c.2045G>C (n.2045G>C) c.1665G>C (p.Thr555=) c.1713G>C (p.Thr571=) c.1809G>C (p.Thr603=) c.1755G>C (p.Thr585=) c.1716G>C (p.Thr572=) | |
18 | g.33739237G= | CA2294855880 | ASXL3 | c.1836G= (p.Thr612=) c.1833G= (p.Thr611=) c.*957G= (n.*957G=) c.*1492G= (n.*1492G=) c.2045G= (n.2045G=) c.1665G= (p.Thr555=) c.1713G= (p.Thr571=) c.1809G= (p.Thr603=) c.1755G= (p.Thr585=) c.1716G= (p.Thr572=) | |
18 | g.33739237G>T | CA503768805 | ASXL3 | c.1836G>T (p.Thr612=) c.1833G>T (p.Thr611=) c.*957G>T (n.*957G>T) c.*1492G>T (n.*1492G>T) c.2045G>T (n.2045G>T) c.1665G>T (p.Thr555=) c.1713G>T (p.Thr571=) c.1809G>T (p.Thr603=) c.1755G>T (p.Thr585=) c.1716G>T (p.Thr572=) | |
18 | g.33739238T>A | CA402176483 | ASXL3 | c.1837T>A (p.Ser613Thr) c.1834T>A (p.Ser612Thr) c.*958T>A (n.*958T>A) c.*1493T>A (n.*1493T>A) c.2046T>A (n.2046T>A) c.1666T>A (p.Ser556Thr) c.1714T>A (p.Ser572Thr) c.1810T>A (p.Ser604Thr) c.1756T>A (p.Ser586Thr) c.1717T>A (p.Ser573Thr) | |
18 | g.33739238T>C | CA402176481 | ASXL3 | c.1837T>C (p.Ser613Pro) c.1834T>C (p.Ser612Pro) c.*958T>C (n.*958T>C) c.*1493T>C (n.*1493T>C) c.2046T>C (n.2046T>C) c.1666T>C (p.Ser556Pro) c.1714T>C (p.Ser572Pro) c.1810T>C (p.Ser604Pro) c.1756T>C (p.Ser586Pro) c.1717T>C (p.Ser573Pro) | |
18 | g.33739238T>G | CA402176485 | ASXL3 | c.1837T>G (p.Ser613Ala) c.1834T>G (p.Ser612Ala) c.*958T>G (n.*958T>G) c.*1493T>G (n.*1493T>G) c.2046T>G (n.2046T>G) c.1666T>G (p.Ser556Ala) c.1714T>G (p.Ser572Ala) c.1810T>G (p.Ser604Ala) c.1756T>G (p.Ser586Ala) c.1717T>G (p.Ser573Ala) | |
18 | g.33739239C>A | CA402176488 | ASXL3 | c.1838C>A (p.Ser613Tyr) c.1835C>A (p.Ser612Tyr) c.*959C>A (n.*959C>A) c.*1494C>A (n.*1494C>A) c.2047C>A (n.2047C>A) c.1667C>A (p.Ser556Tyr) c.1715C>A (p.Ser572Tyr) c.1811C>A (p.Ser604Tyr) c.1757C>A (p.Ser586Tyr) c.1718C>A (p.Ser573Tyr) | |
18 | g.33739239C>G | CA402176491 | ASXL3 | c.1838C>G (p.Ser613Cys) c.1835C>G (p.Ser612Cys) c.*959C>G (n.*959C>G) c.*1494C>G (n.*1494C>G) c.2047C>G (n.2047C>G) c.1667C>G (p.Ser556Cys) c.1715C>G (p.Ser572Cys) c.1811C>G (p.Ser604Cys) c.1757C>G (p.Ser586Cys) c.1718C>G (p.Ser573Cys) | |
18 | g.33739239C>T | CA402176490 | ASXL3 | c.1838C>T (p.Ser613Phe) c.1835C>T (p.Ser612Phe) c.*959C>T (n.*959C>T) c.*1494C>T (n.*1494C>T) c.2047C>T (n.2047C>T) c.1667C>T (p.Ser556Phe) c.1715C>T (p.Ser572Phe) c.1811C>T (p.Ser604Phe) c.1757C>T (p.Ser586Phe) c.1718C>T (p.Ser573Phe) | gnomAD v4 |
18 | g.33739240C>A | CA503768811 | ASXL3 | c.1839C>A (p.Ser613=) c.1836C>A (p.Ser612=) c.*960C>A (n.*960C>A) c.*1495C>A (n.*1495C>A) c.2048C>A (n.2048C>A) c.1668C>A (p.Ser556=) c.1716C>A (p.Ser572=) c.1812C>A (p.Ser604=) c.1758C>A (p.Ser586=) c.1719C>A (p.Ser573=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739240C= | CA2294855881 | ASXL3 | c.1839C= (p.Ser613=) c.1836C= (p.Ser612=) c.*960C= (n.*960C=) c.*1495C= (n.*1495C=) c.2048C= (n.2048C=) c.1668C= (p.Ser556=) c.1716C= (p.Ser572=) c.1812C= (p.Ser604=) c.1758C= (p.Ser586=) c.1719C= (p.Ser573=) | |
18 | g.33739240C>G | CA503768815 | ASXL3 | c.1839C>G (p.Ser613=) c.1836C>G (p.Ser612=) c.*960C>G (n.*960C>G) c.*1495C>G (n.*1495C>G) c.2048C>G (n.2048C>G) c.1668C>G (p.Ser556=) c.1716C>G (p.Ser572=) c.1812C>G (p.Ser604=) c.1758C>G (p.Ser586=) c.1719C>G (p.Ser573=) | dbSNP |
18 | g.33739240C>T | CA503768814 | ASXL3 | c.1839C>T (p.Ser613=) c.1836C>T (p.Ser612=) c.*960C>T (n.*960C>T) c.*1495C>T (n.*1495C>T) c.2048C>T (n.2048C>T) c.1668C>T (p.Ser556=) c.1716C>T (p.Ser572=) c.1812C>T (p.Ser604=) c.1758C>T (p.Ser586=) c.1719C>T (p.Ser573=) | dbSNP |
18 | g.33739241T>A | CA402176492 | ASXL3 | c.1840T>A (p.Phe614Ile) c.1837T>A (p.Phe613Ile) c.*961T>A (n.*961T>A) c.*1496T>A (n.*1496T>A) c.2049T>A (n.2049T>A) c.1669T>A (p.Phe557Ile) c.1717T>A (p.Phe573Ile) c.1813T>A (p.Phe605Ile) c.1759T>A (p.Phe587Ile) c.1720T>A (p.Phe574Ile) | |
18 | g.33739241T>C | CA402176493 | ASXL3 | c.1840T>C (p.Phe614Leu) c.1837T>C (p.Phe613Leu) c.*961T>C (n.*961T>C) c.*1496T>C (n.*1496T>C) c.2049T>C (n.2049T>C) c.1669T>C (p.Phe557Leu) c.1717T>C (p.Phe573Leu) c.1813T>C (p.Phe605Leu) c.1759T>C (p.Phe587Leu) c.1720T>C (p.Phe574Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739241T>G | CA402176494 | ASXL3 | c.1840T>G (p.Phe614Val) c.1837T>G (p.Phe613Val) c.*961T>G (n.*961T>G) c.*1496T>G (n.*1496T>G) c.2049T>G (n.2049T>G) c.1669T>G (p.Phe557Val) c.1717T>G (p.Phe573Val) c.1813T>G (p.Phe605Val) c.1759T>G (p.Phe587Val) c.1720T>G (p.Phe574Val) | dbSNP |
18 | g.33739241T= | CA2294855882 | ASXL3 | c.1840T= (p.Phe614=) c.1837T= (p.Phe613=) c.*961T= (n.*961T=) c.*1496T= (n.*1496T=) c.2049T= (n.2049T=) c.1669T= (p.Phe557=) c.1717T= (p.Phe573=) c.1813T= (p.Phe605=) c.1759T= (p.Phe587=) c.1720T= (p.Phe574=) | |
18 | g.33739244del | CA2641457415 | ASXL3 | c.1843del (p.Ser615LeufsTer?) c.1840del (p.Ser614LeufsTer?) c.*964del (n.*964del) c.*1499del (n.*1499del) c.2052del (n.2052del) c.1672del (p.Ser558LeufsTer?) c.1720del (p.Ser574LeufsTer?) c.1816del (p.Ser606LeufsTer?) c.1762del (p.Ser588LeufsTer?) c.1723del (p.Ser575LeufsTer?) | gnomAD v4 |
18 | g.33739242T>A | CA402176495 | ASXL3 | c.1841T>A (p.Phe614Tyr) c.1838T>A (p.Phe613Tyr) c.*962T>A (n.*962T>A) c.*1497T>A (n.*1497T>A) c.2050T>A (n.2050T>A) c.1670T>A (p.Phe557Tyr) c.1718T>A (p.Phe573Tyr) c.1814T>A (p.Phe605Tyr) c.1760T>A (p.Phe587Tyr) c.1721T>A (p.Phe574Tyr) | |
18 | g.33739242T>C | CA402176497 | ASXL3 | c.1841T>C (p.Phe614Ser) c.1838T>C (p.Phe613Ser) c.*962T>C (n.*962T>C) c.*1497T>C (n.*1497T>C) c.2050T>C (n.2050T>C) c.1670T>C (p.Phe557Ser) c.1718T>C (p.Phe573Ser) c.1814T>C (p.Phe605Ser) c.1760T>C (p.Phe587Ser) c.1721T>C (p.Phe574Ser) | |
18 | g.33739242T>G | CA402176499 | ASXL3 | c.1841T>G (p.Phe614Cys) c.1838T>G (p.Phe613Cys) c.*962T>G (n.*962T>G) c.*1497T>G (n.*1497T>G) c.2050T>G (n.2050T>G) c.1670T>G (p.Phe557Cys) c.1718T>G (p.Phe573Cys) c.1814T>G (p.Phe605Cys) c.1760T>G (p.Phe587Cys) c.1721T>G (p.Phe574Cys) | |
18 | g.33739243T>A | CA402176501 | ASXL3 | c.1842T>A (p.Phe614Leu) c.1839T>A (p.Phe613Leu) c.*963T>A (n.*963T>A) c.*1498T>A (n.*1498T>A) c.2051T>A (n.2051T>A) c.1671T>A (p.Phe557Leu) c.1719T>A (p.Phe573Leu) c.1815T>A (p.Phe605Leu) c.1761T>A (p.Phe587Leu) c.1722T>A (p.Phe574Leu) | |
18 | g.33739243T>C | CA503768817 | ASXL3 | c.1842T>C (p.Phe614=) c.1839T>C (p.Phe613=) c.*963T>C (n.*963T>C) c.*1498T>C (n.*1498T>C) c.2051T>C (n.2051T>C) c.1671T>C (p.Phe557=) c.1719T>C (p.Phe573=) c.1815T>C (p.Phe605=) c.1761T>C (p.Phe587=) c.1722T>C (p.Phe574=) | |
18 | g.33739243T>G | CA402176503 | ASXL3 | c.1842T>G (p.Phe614Leu) c.1839T>G (p.Phe613Leu) c.*963T>G (n.*963T>G) c.*1498T>G (n.*1498T>G) c.2051T>G (n.2051T>G) c.1671T>G (p.Phe557Leu) c.1719T>G (p.Phe573Leu) c.1815T>G (p.Phe605Leu) c.1761T>G (p.Phe587Leu) c.1722T>G (p.Phe574Leu) | |
18 | g.33739244T>A | CA402176507 | ASXL3 | c.1843T>A (p.Ser615Thr) c.1840T>A (p.Ser614Thr) c.*964T>A (n.*964T>A) c.*1499T>A (n.*1499T>A) c.2052T>A (n.2052T>A) c.1672T>A (p.Ser558Thr) c.1720T>A (p.Ser574Thr) c.1816T>A (p.Ser606Thr) c.1762T>A (p.Ser588Thr) c.1723T>A (p.Ser575Thr) | |
18 | g.33739244T>C | CA402176509 | ASXL3 | c.1843T>C (p.Ser615Pro) c.1840T>C (p.Ser614Pro) c.*964T>C (n.*964T>C) c.*1499T>C (n.*1499T>C) c.2052T>C (n.2052T>C) c.1672T>C (p.Ser558Pro) c.1720T>C (p.Ser574Pro) c.1816T>C (p.Ser606Pro) c.1762T>C (p.Ser588Pro) c.1723T>C (p.Ser575Pro) | |
18 | g.33739244T>G | CA402176511 | ASXL3 | c.1843T>G (p.Ser615Ala) c.1840T>G (p.Ser614Ala) c.*964T>G (n.*964T>G) c.*1499T>G (n.*1499T>G) c.2052T>G (n.2052T>G) c.1672T>G (p.Ser558Ala) c.1720T>G (p.Ser574Ala) c.1816T>G (p.Ser606Ala) c.1762T>G (p.Ser588Ala) c.1723T>G (p.Ser575Ala) | |
18 | g.33739245C>A | CA402176518 | ASXL3 | c.1844C>A (p.Ser615Tyr) c.1841C>A (p.Ser614Tyr) c.*965C>A (n.*965C>A) c.*1500C>A (n.*1500C>A) c.2053C>A (n.2053C>A) c.1673C>A (p.Ser558Tyr) c.1721C>A (p.Ser574Tyr) c.1817C>A (p.Ser606Tyr) c.1763C>A (p.Ser588Tyr) c.1724C>A (p.Ser575Tyr) | |
18 | g.33739245C= | CA2294855883 | ASXL3 | c.1844C= (p.Ser615=) c.1841C= (p.Ser614=) c.*965C= (n.*965C=) c.*1500C= (n.*1500C=) c.2053C= (n.2053C=) c.1673C= (p.Ser558=) c.1721C= (p.Ser574=) c.1817C= (p.Ser606=) c.1763C= (p.Ser588=) c.1724C= (p.Ser575=) | |
18 | g.33739245C>G | CA402176517 | ASXL3 | c.1844C>G (p.Ser615Cys) c.1841C>G (p.Ser614Cys) c.*965C>G (n.*965C>G) c.*1500C>G (n.*1500C>G) c.2053C>G (n.2053C>G) c.1673C>G (p.Ser558Cys) c.1721C>G (p.Ser574Cys) c.1817C>G (p.Ser606Cys) c.1763C>G (p.Ser588Cys) c.1724C>G (p.Ser575Cys) | |
18 | g.33739245C>T | CA402176515 | ASXL3 | c.1844C>T (p.Ser615Phe) c.1841C>T (p.Ser614Phe) c.*965C>T (n.*965C>T) c.*1500C>T (n.*1500C>T) c.2053C>T (n.2053C>T) c.1673C>T (p.Ser558Phe) c.1721C>T (p.Ser574Phe) c.1817C>T (p.Ser606Phe) c.1763C>T (p.Ser588Phe) c.1724C>T (p.Ser575Phe) | ClinVar dbSNP |
18 | g.33739246T>A | CA503768819 | ASXL3 | c.1845T>A (p.Ser615=) c.1842T>A (p.Ser614=) c.*966T>A (n.*966T>A) c.*1501T>A (n.*1501T>A) c.2054T>A (n.2054T>A) c.1674T>A (p.Ser558=) c.1722T>A (p.Ser574=) c.1818T>A (p.Ser606=) c.1764T>A (p.Ser588=) c.1725T>A (p.Ser575=) | |
18 | g.33739246T>C | CA503768821 | ASXL3 | c.1845T>C (p.Ser615=) c.1842T>C (p.Ser614=) c.*966T>C (n.*966T>C) c.*1501T>C (n.*1501T>C) c.2054T>C (n.2054T>C) c.1674T>C (p.Ser558=) c.1722T>C (p.Ser574=) c.1818T>C (p.Ser606=) c.1764T>C (p.Ser588=) c.1725T>C (p.Ser575=) | |
18 | g.33739246T>G | CA503768823 | ASXL3 | c.1845T>G (p.Ser615=) c.1842T>G (p.Ser614=) c.*966T>G (n.*966T>G) c.*1501T>G (n.*1501T>G) c.2054T>G (n.2054T>G) c.1674T>G (p.Ser558=) c.1722T>G (p.Ser574=) c.1818T>G (p.Ser606=) c.1764T>G (p.Ser588=) c.1725T>G (p.Ser575=) | |
18 | g.33739247T>A | CA402176521 | ASXL3 | c.1846T>A (p.Ser616Thr) c.1843T>A (p.Ser615Thr) c.*967T>A (n.*967T>A) c.*1502T>A (n.*1502T>A) c.2055T>A (n.2055T>A) c.1675T>A (p.Ser559Thr) c.1723T>A (p.Ser575Thr) c.1819T>A (p.Ser607Thr) c.1765T>A (p.Ser589Thr) c.1726T>A (p.Ser576Thr) | |
18 | g.33739247T>C | CA402176523 | ASXL3 | c.1846T>C (p.Ser616Pro) c.1843T>C (p.Ser615Pro) c.*967T>C (n.*967T>C) c.*1502T>C (n.*1502T>C) c.2055T>C (n.2055T>C) c.1675T>C (p.Ser559Pro) c.1723T>C (p.Ser575Pro) c.1819T>C (p.Ser607Pro) c.1765T>C (p.Ser589Pro) c.1726T>C (p.Ser576Pro) | |
18 | g.33739247T>G | CA402176525 | ASXL3 | c.1846T>G (p.Ser616Ala) c.1843T>G (p.Ser615Ala) c.*967T>G (n.*967T>G) c.*1502T>G (n.*1502T>G) c.2055T>G (n.2055T>G) c.1675T>G (p.Ser559Ala) c.1723T>G (p.Ser575Ala) c.1819T>G (p.Ser607Ala) c.1765T>G (p.Ser589Ala) c.1726T>G (p.Ser576Ala) | |
18 | g.33739248C>A | CA402176528 | ASXL3 | c.1847C>A (p.Ser616Tyr) c.1844C>A (p.Ser615Tyr) c.*968C>A (n.*968C>A) c.*1503C>A (n.*1503C>A) c.2056C>A (n.2056C>A) c.1676C>A (p.Ser559Tyr) c.1724C>A (p.Ser575Tyr) c.1820C>A (p.Ser607Tyr) c.1766C>A (p.Ser589Tyr) c.1727C>A (p.Ser576Tyr) | |
18 | g.33739248C= | CA2294855884 | ASXL3 | c.1847C= (p.Ser616=) c.1844C= (p.Ser615=) c.*968C= (n.*968C=) c.*1503C= (n.*1503C=) c.2056C= (n.2056C=) c.1676C= (p.Ser559=) c.1724C= (p.Ser575=) c.1820C= (p.Ser607=) c.1766C= (p.Ser589=) c.1727C= (p.Ser576=) | |
18 | g.33739248C>G | CA402176531 | ASXL3 | c.1847C>G (p.Ser616Cys) c.1844C>G (p.Ser615Cys) c.*968C>G (n.*968C>G) c.*1503C>G (n.*1503C>G) c.2056C>G (n.2056C>G) c.1676C>G (p.Ser559Cys) c.1724C>G (p.Ser575Cys) c.1820C>G (p.Ser607Cys) c.1766C>G (p.Ser589Cys) c.1727C>G (p.Ser576Cys) | dbSNP gnomAD v4 |
18 | g.33739248C>T | CA402176536 | ASXL3 | c.1847C>T (p.Ser616Phe) c.1844C>T (p.Ser615Phe) c.*968C>T (n.*968C>T) c.*1503C>T (n.*1503C>T) c.2056C>T (n.2056C>T) c.1676C>T (p.Ser559Phe) c.1724C>T (p.Ser575Phe) c.1820C>T (p.Ser607Phe) c.1766C>T (p.Ser589Phe) c.1727C>T (p.Ser576Phe) | dbSNP gnomAD v4 |
18 | g.33739249T>A | CA503768827 | ASXL3 | c.1848T>A (p.Ser616=) c.1845T>A (p.Ser615=) c.*969T>A (n.*969T>A) c.*1504T>A (n.*1504T>A) c.2057T>A (n.2057T>A) c.1677T>A (p.Ser559=) c.1725T>A (p.Ser575=) c.1821T>A (p.Ser607=) c.1767T>A (p.Ser589=) c.1728T>A (p.Ser576=) | |
18 | g.33739249T>C | CA503768829 | ASXL3 | c.1848T>C (p.Ser616=) c.1845T>C (p.Ser615=) c.*969T>C (n.*969T>C) c.*1504T>C (n.*1504T>C) c.2057T>C (n.2057T>C) c.1677T>C (p.Ser559=) c.1725T>C (p.Ser575=) c.1821T>C (p.Ser607=) c.1767T>C (p.Ser589=) c.1728T>C (p.Ser576=) | |
18 | g.33739249T>G | CA503768831 | ASXL3 | c.1848T>G (p.Ser616=) c.1845T>G (p.Ser615=) c.*969T>G (n.*969T>G) c.*1504T>G (n.*1504T>G) c.2057T>G (n.2057T>G) c.1677T>G (p.Ser559=) c.1725T>G (p.Ser575=) c.1821T>G (p.Ser607=) c.1767T>G (p.Ser589=) c.1728T>G (p.Ser576=) | |
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.33739250G>A | CA402176539 | ASXL3 | c.1849G>A (p.Glu617Lys) c.1846G>A (p.Glu616Lys) c.*970G>A (n.*970G>A) c.*1505G>A (n.*1505G>A) c.2058G>A (n.2058G>A) c.1678G>A (p.Glu560Lys) c.1726G>A (p.Glu576Lys) c.1822G>A (p.Glu608Lys) c.1768G>A (p.Glu590Lys) c.1729G>A (p.Glu577Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739250G>C | CA402176540 | ASXL3 | c.1849G>C (p.Glu617Gln) c.1846G>C (p.Glu616Gln) c.*970G>C (n.*970G>C) c.*1505G>C (n.*1505G>C) c.2058G>C (n.2058G>C) c.1678G>C (p.Glu560Gln) c.1726G>C (p.Glu576Gln) c.1822G>C (p.Glu608Gln) c.1768G>C (p.Glu590Gln) c.1729G>C (p.Glu577Gln) | COSMIC COSMIC |
18 | g.33739250G= | CA2294855886 | ASXL3 | c.1849G= (p.Glu617=) c.1846G= (p.Glu616=) c.*970G= (n.*970G=) c.*1505G= (n.*1505G=) c.2058G= (n.2058G=) c.1678G= (p.Glu560=) c.1726G= (p.Glu576=) c.1822G= (p.Glu608=) c.1768G= (p.Glu590=) c.1729G= (p.Glu577=) | |
18 | g.33739250G>T | CA402176545 | ASXL3 | c.1849G>T (p.Glu617Ter) c.1846G>T (p.Glu616Ter) c.*970G>T (n.*970G>T) c.*1505G>T (n.*1505G>T) c.2058G>T (n.2058G>T) c.1678G>T (p.Glu560Ter) c.1726G>T (p.Glu576Ter) c.1822G>T (p.Glu608Ter) c.1768G>T (p.Glu590Ter) c.1729G>T (p.Glu577Ter) | |
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=) |