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.33739070_33739085delinsACAGAACATAAGGAGT | CA2294855808 | ASXL3 | c.1669_1684delinsACAGAACATAAGGAGT (p.Thr557=) c.1666_1681delinsACAGAACATAAGGAGT (p.Thr556=) c.*790_*805delinsACAGAACATAAGGAGT (n.*790_*805delinsACAGAACATAAGGAGT) c.*1325_*1340delinsACAGAACATAAGGAGT (n.*1325_*1340delinsACAGAACATAAGGAGT) c.1878_1893delinsACAGAACATAAGGAGT (n.1878_1893delinsACAGAACATAAGGAGT) c.1498_1513delinsACAGAACATAAGGAGT (p.Thr500=) c.1546_1561delinsACAGAACATAAGGAGT (p.Thr516=) c.1642_1657delinsACAGAACATAAGGAGT (p.Thr548=) c.1588_1603delinsACAGAACATAAGGAGT (p.Thr530=) c.1549_1564delinsACAGAACATAAGGAGT (p.Thr517=) | |
18 | g.33739076_33739090del | CA8933791 | ASXL3 | c.1675_1689del (p.His559_Glu563del) c.1672_1686del (p.His558_Glu562del) c.*796_*810del (n.*796_*810del) c.*1331_*1345del (n.*1331_*1345del) c.1884_1898del (n.1884_1898del) c.1504_1518del (p.His502_Glu506del) c.1552_1566del (p.His518_Glu522del) c.1648_1662del (p.His550_Glu554del) c.1594_1608del (p.His532_Glu536del) c.1555_1569del (p.His519_Glu523del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739077A>C | CA402176094 | ASXL3 | c.1676A>C (p.His559Pro) c.1673A>C (p.His558Pro) c.*797A>C (n.*797A>C) c.*1332A>C (n.*1332A>C) c.1885A>C (n.1885A>C) c.1505A>C (p.His502Pro) c.1553A>C (p.His518Pro) c.1649A>C (p.His550Pro) c.1595A>C (p.His532Pro) c.1556A>C (p.His519Pro) | gnomAD v4 |
18 | g.33739077A>G | CA402176095 | ASXL3 | c.1676A>G (p.His559Arg) c.1673A>G (p.His558Arg) c.*797A>G (n.*797A>G) c.*1332A>G (n.*1332A>G) c.1885A>G (n.1885A>G) c.1505A>G (p.His502Arg) c.1553A>G (p.His518Arg) c.1649A>G (p.His550Arg) c.1595A>G (p.His532Arg) c.1556A>G (p.His519Arg) | gnomAD v4 |
18 | g.33739077A>T | CA402176096 | ASXL3 | c.1676A>T (p.His559Leu) c.1673A>T (p.His558Leu) c.*797A>T (n.*797A>T) c.*1332A>T (n.*1332A>T) c.1885A>T (n.1885A>T) c.1505A>T (p.His502Leu) c.1553A>T (p.His518Leu) c.1649A>T (p.His550Leu) c.1595A>T (p.His532Leu) c.1556A>T (p.His519Leu) | |
18 | g.33739078T>A | CA402176097 | ASXL3 | c.1677T>A (p.His559Gln) c.1674T>A (p.His558Gln) c.*798T>A (n.*798T>A) c.*1333T>A (n.*1333T>A) c.1886T>A (n.1886T>A) c.1506T>A (p.His502Gln) c.1554T>A (p.His518Gln) c.1650T>A (p.His550Gln) c.1596T>A (p.His532Gln) c.1557T>A (p.His519Gln) | |
18 | g.33739078T>C | CA503768837 | ASXL3 | c.1677T>C (p.His559=) c.1674T>C (p.His558=) c.*798T>C (n.*798T>C) c.*1333T>C (n.*1333T>C) c.1886T>C (n.1886T>C) c.1506T>C (p.His502=) c.1554T>C (p.His518=) c.1650T>C (p.His550=) c.1596T>C (p.His532=) c.1557T>C (p.His519=) | |
18 | g.33739078T>G | CA402176098 | ASXL3 | c.1677T>G (p.His559Gln) c.1674T>G (p.His558Gln) c.*798T>G (n.*798T>G) c.*1333T>G (n.*1333T>G) c.1886T>G (n.1886T>G) c.1506T>G (p.His502Gln) c.1554T>G (p.His518Gln) c.1650T>G (p.His550Gln) c.1596T>G (p.His532Gln) c.1557T>G (p.His519Gln) | |
18 | g.33739079A>C | CA402176099 | ASXL3 | c.1678A>C (p.Lys560Gln) c.1675A>C (p.Lys559Gln) c.*799A>C (n.*799A>C) c.*1334A>C (n.*1334A>C) c.1887A>C (n.1887A>C) c.1507A>C (p.Lys503Gln) c.1555A>C (p.Lys519Gln) c.1651A>C (p.Lys551Gln) c.1597A>C (p.Lys533Gln) c.1558A>C (p.Lys520Gln) | |
18 | g.33739079A>G | CA402176100 | ASXL3 | c.1678A>G (p.Lys560Glu) c.1675A>G (p.Lys559Glu) c.*799A>G (n.*799A>G) c.*1334A>G (n.*1334A>G) c.1887A>G (n.1887A>G) c.1507A>G (p.Lys503Glu) c.1555A>G (p.Lys519Glu) c.1651A>G (p.Lys551Glu) c.1597A>G (p.Lys533Glu) c.1558A>G (p.Lys520Glu) | |
18 | g.33739079A>T | CA402176101 | ASXL3 | c.1678A>T (p.Lys560Ter) c.1675A>T (p.Lys559Ter) c.*799A>T (n.*799A>T) c.*1334A>T (n.*1334A>T) c.1887A>T (n.1887A>T) c.1507A>T (p.Lys503Ter) c.1555A>T (p.Lys519Ter) c.1651A>T (p.Lys551Ter) c.1597A>T (p.Lys533Ter) c.1558A>T (p.Lys520Ter) | |
18 | g.33739080A>C | CA402176102 | ASXL3 | c.1679A>C (p.Lys560Thr) c.1676A>C (p.Lys559Thr) c.*800A>C (n.*800A>C) c.*1335A>C (n.*1335A>C) c.1888A>C (n.1888A>C) c.1508A>C (p.Lys503Thr) c.1556A>C (p.Lys519Thr) c.1652A>C (p.Lys551Thr) c.1598A>C (p.Lys533Thr) c.1559A>C (p.Lys520Thr) | |
18 | g.33739080A>G | CA402176103 | ASXL3 | c.1679A>G (p.Lys560Arg) c.1676A>G (p.Lys559Arg) c.*800A>G (n.*800A>G) c.*1335A>G (n.*1335A>G) c.1888A>G (n.1888A>G) c.1508A>G (p.Lys503Arg) c.1556A>G (p.Lys519Arg) c.1652A>G (p.Lys551Arg) c.1598A>G (p.Lys533Arg) c.1559A>G (p.Lys520Arg) | gnomAD v4 |
18 | g.33739080A>T | CA402176104 | ASXL3 | c.1679A>T (p.Lys560Met) c.1676A>T (p.Lys559Met) c.*800A>T (n.*800A>T) c.*1335A>T (n.*1335A>T) c.1888A>T (n.1888A>T) c.1508A>T (p.Lys503Met) c.1556A>T (p.Lys519Met) c.1652A>T (p.Lys551Met) c.1598A>T (p.Lys533Met) c.1559A>T (p.Lys520Met) | |
18 | g.33739081G>A | CA503768840 | ASXL3 | c.1680G>A (p.Lys560=) c.1677G>A (p.Lys559=) c.*801G>A (n.*801G>A) c.*1336G>A (n.*1336G>A) c.1889G>A (n.1889G>A) c.1509G>A (p.Lys503=) c.1557G>A (p.Lys519=) c.1653G>A (p.Lys551=) c.1599G>A (p.Lys533=) c.1560G>A (p.Lys520=) | dbSNP gnomAD v2 |
18 | g.33739081G>C | CA402176105 | ASXL3 | c.1680G>C (p.Lys560Asn) c.1677G>C (p.Lys559Asn) c.*801G>C (n.*801G>C) c.*1336G>C (n.*1336G>C) c.1889G>C (n.1889G>C) c.1509G>C (p.Lys503Asn) c.1557G>C (p.Lys519Asn) c.1653G>C (p.Lys551Asn) c.1599G>C (p.Lys533Asn) c.1560G>C (p.Lys520Asn) | |
18 | g.33739081G= | CA2294855813 | ASXL3 | c.1680G= (p.Lys560=) c.1677G= (p.Lys559=) c.*801G= (n.*801G=) c.*1336G= (n.*1336G=) c.1889G= (n.1889G=) c.1509G= (p.Lys503=) c.1557G= (p.Lys519=) c.1653G= (p.Lys551=) c.1599G= (p.Lys533=) c.1560G= (p.Lys520=) | |
18 | g.33739081G>T | CA402176106 | ASXL3 | c.1680G>T (p.Lys560Asn) c.1677G>T (p.Lys559Asn) c.*801G>T (n.*801G>T) c.*1336G>T (n.*1336G>T) c.1889G>T (n.1889G>T) c.1509G>T (p.Lys503Asn) c.1557G>T (p.Lys519Asn) c.1653G>T (p.Lys551Asn) c.1599G>T (p.Lys533Asn) c.1560G>T (p.Lys520Asn) | |
18 | g.33739082G>A | CA8933792 | ASXL3 | c.1681G>A (p.Glu561Lys) c.1678G>A (p.Glu560Lys) c.*802G>A (n.*802G>A) c.*1337G>A (n.*1337G>A) c.1890G>A (n.1890G>A) c.1510G>A (p.Glu504Lys) c.1558G>A (p.Glu520Lys) c.1654G>A (p.Glu552Lys) c.1600G>A (p.Glu534Lys) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739082G>C | CA402176107 | ASXL3 | c.1681G>C (p.Glu561Gln) c.1678G>C (p.Glu560Gln) c.*802G>C (n.*802G>C) c.*1337G>C (n.*1337G>C) c.1890G>C (n.1890G>C) c.1510G>C (p.Glu504Gln) c.1558G>C (p.Glu520Gln) c.1654G>C (p.Glu552Gln) c.1600G>C (p.Glu534Gln) c.1561G>C (p.Glu521Gln) | |
18 | g.33739082G= | CA2294855814 | ASXL3 | c.1681G= (p.Glu561=) c.1678G= (p.Glu560=) c.*802G= (n.*802G=) c.*1337G= (n.*1337G=) c.1890G= (n.1890G=) c.1510G= (p.Glu504=) c.1558G= (p.Glu520=) c.1654G= (p.Glu552=) c.1600G= (p.Glu534=) c.1561G= (p.Glu521=) | |
18 | g.33739082G>T | CA402176108 | ASXL3 | c.1681G>T (p.Glu561Ter) c.1678G>T (p.Glu560Ter) c.*802G>T (n.*802G>T) c.*1337G>T (n.*1337G>T) c.1890G>T (n.1890G>T) c.1510G>T (p.Glu504Ter) c.1558G>T (p.Glu520Ter) c.1654G>T (p.Glu552Ter) c.1600G>T (p.Glu534Ter) c.1561G>T (p.Glu521Ter) | |
18 | g.33739083A>C | CA402176109 | ASXL3 | c.1682A>C (p.Glu561Ala) c.1679A>C (p.Glu560Ala) c.*803A>C (n.*803A>C) c.*1338A>C (n.*1338A>C) c.1891A>C (n.1891A>C) c.1511A>C (p.Glu504Ala) c.1559A>C (p.Glu520Ala) c.1655A>C (p.Glu552Ala) c.1601A>C (p.Glu534Ala) c.1562A>C (p.Glu521Ala) | |
18 | g.33739083A>G | CA402176110 | ASXL3 | c.1682A>G (p.Glu561Gly) c.1679A>G (p.Glu560Gly) c.*803A>G (n.*803A>G) c.*1338A>G (n.*1338A>G) c.1891A>G (n.1891A>G) c.1511A>G (p.Glu504Gly) c.1559A>G (p.Glu520Gly) c.1655A>G (p.Glu552Gly) c.1601A>G (p.Glu534Gly) c.1562A>G (p.Glu521Gly) | |
18 | g.33739083A>T | CA402176111 | ASXL3 | c.1682A>T (p.Glu561Val) c.1679A>T (p.Glu560Val) c.*803A>T (n.*803A>T) c.*1338A>T (n.*1338A>T) c.1891A>T (n.1891A>T) c.1511A>T (p.Glu504Val) c.1559A>T (p.Glu520Val) c.1655A>T (p.Glu552Val) c.1601A>T (p.Glu534Val) c.1562A>T (p.Glu521Val) | |
18 | g.33739084G>A | CA503768845 | ASXL3 | c.1683G>A (p.Glu561=) c.1680G>A (p.Glu560=) c.*804G>A (n.*804G>A) c.*1339G>A (n.*1339G>A) c.1892G>A (n.1892G>A) c.1512G>A (p.Glu504=) c.1560G>A (p.Glu520=) c.1656G>A (p.Glu552=) c.1602G>A (p.Glu534=) c.1563G>A (p.Glu521=) | gnomAD v4 |
18 | g.33739084G>C | CA402176112 | ASXL3 | c.1683G>C (p.Glu561Asp) c.1680G>C (p.Glu560Asp) c.*804G>C (n.*804G>C) c.*1339G>C (n.*1339G>C) c.1892G>C (n.1892G>C) c.1512G>C (p.Glu504Asp) c.1560G>C (p.Glu520Asp) c.1656G>C (p.Glu552Asp) c.1602G>C (p.Glu534Asp) c.1563G>C (p.Glu521Asp) | |
18 | g.33739084G>T | CA402176113 | ASXL3 | c.1683G>T (p.Glu561Asp) c.1680G>T (p.Glu560Asp) c.*804G>T (n.*804G>T) c.*1339G>T (n.*1339G>T) c.1892G>T (n.1892G>T) c.1512G>T (p.Glu504Asp) c.1560G>T (p.Glu520Asp) c.1656G>T (p.Glu552Asp) c.1602G>T (p.Glu534Asp) c.1563G>T (p.Glu521Asp) | |
18 | g.33739085T>A | CA402176114 | ASXL3 | c.1684T>A (p.Ser562Thr) c.1681T>A (p.Ser561Thr) c.*805T>A (n.*805T>A) c.*1340T>A (n.*1340T>A) c.1893T>A (n.1893T>A) c.1513T>A (p.Ser505Thr) c.1561T>A (p.Ser521Thr) c.1657T>A (p.Ser553Thr) c.1603T>A (p.Ser535Thr) c.1564T>A (p.Ser522Thr) | |
18 | g.33739085T>C | CA402176115 | ASXL3 | c.1684T>C (p.Ser562Pro) c.1681T>C (p.Ser561Pro) c.*805T>C (n.*805T>C) c.*1340T>C (n.*1340T>C) c.1893T>C (n.1893T>C) c.1513T>C (p.Ser505Pro) c.1561T>C (p.Ser521Pro) c.1657T>C (p.Ser553Pro) c.1603T>C (p.Ser535Pro) c.1564T>C (p.Ser522Pro) | |
18 | g.33739085T>G | CA402176116 | ASXL3 | c.1684T>G (p.Ser562Ala) c.1681T>G (p.Ser561Ala) c.*805T>G (n.*805T>G) c.*1340T>G (n.*1340T>G) c.1893T>G (n.1893T>G) c.1513T>G (p.Ser505Ala) c.1561T>G (p.Ser521Ala) c.1657T>G (p.Ser553Ala) c.1603T>G (p.Ser535Ala) c.1564T>G (p.Ser522Ala) | |
18 | g.33739086C>A | CA353436 | ASXL3 | c.1685C>A (p.Ser562Ter) c.1682C>A (p.Ser561Ter) c.*806C>A (n.*806C>A) c.*1341C>A (n.*1341C>A) c.1894C>A (n.1894C>A) c.1514C>A (p.Ser505Ter) c.1562C>A (p.Ser521Ter) c.1658C>A (p.Ser553Ter) c.1604C>A (p.Ser535Ter) c.1565C>A (p.Ser522Ter) | ClinVar dbSNP |
18 | g.33739086C= | CA2294855815 | ASXL3 | c.1685C= (p.Ser562=) c.1682C= (p.Ser561=) c.*806C= (n.*806C=) c.*1341C= (n.*1341C=) c.1894C= (n.1894C=) c.1514C= (p.Ser505=) c.1562C= (p.Ser521=) c.1658C= (p.Ser553=) c.1604C= (p.Ser535=) c.1565C= (p.Ser522=) | |
18 | g.33739086C>G | CA402176118 | ASXL3 | c.1685C>G (p.Ser562Ter) c.1682C>G (p.Ser561Ter) c.*806C>G (n.*806C>G) c.*1341C>G (n.*1341C>G) c.1894C>G (n.1894C>G) c.1514C>G (p.Ser505Ter) c.1562C>G (p.Ser521Ter) c.1658C>G (p.Ser553Ter) c.1604C>G (p.Ser535Ter) c.1565C>G (p.Ser522Ter) | |
18 | g.33739086C>T | CA402176117 | ASXL3 | c.1685C>T (p.Ser562Leu) c.1682C>T (p.Ser561Leu) c.*806C>T (n.*806C>T) c.*1341C>T (n.*1341C>T) c.1894C>T (n.1894C>T) c.1514C>T (p.Ser505Leu) c.1562C>T (p.Ser521Leu) c.1658C>T (p.Ser553Leu) c.1604C>T (p.Ser535Leu) c.1565C>T (p.Ser522Leu) | |
18 | g.33739087A>C | CA503768851 | ASXL3 | c.1686A>C (p.Ser562=) c.1683A>C (p.Ser561=) c.*807A>C (n.*807A>C) c.*1342A>C (n.*1342A>C) c.1895A>C (n.1895A>C) c.1515A>C (p.Ser505=) c.1563A>C (p.Ser521=) c.1659A>C (p.Ser553=) c.1605A>C (p.Ser535=) c.1566A>C (p.Ser522=) | |
18 | g.33739087A>G | CA503768853 | ASXL3 | c.1686A>G (p.Ser562=) c.1683A>G (p.Ser561=) c.*807A>G (n.*807A>G) c.*1342A>G (n.*1342A>G) c.1895A>G (n.1895A>G) c.1515A>G (p.Ser505=) c.1563A>G (p.Ser521=) c.1659A>G (p.Ser553=) c.1605A>G (p.Ser535=) c.1566A>G (p.Ser522=) | |
18 | g.33739087A>T | CA503768855 | ASXL3 | c.1686A>T (p.Ser562=) c.1683A>T (p.Ser561=) c.*807A>T (n.*807A>T) c.*1342A>T (n.*1342A>T) c.1895A>T (n.1895A>T) c.1515A>T (p.Ser505=) c.1563A>T (p.Ser521=) c.1659A>T (p.Ser553=) c.1605A>T (p.Ser535=) c.1566A>T (p.Ser522=) | |
18 | g.33739088G>A | CA402176119 | ASXL3 | c.1687G>A (p.Glu563Lys) c.1684G>A (p.Glu562Lys) c.*808G>A (n.*808G>A) c.*1343G>A (n.*1343G>A) c.1896G>A (n.1896G>A) c.1516G>A (p.Glu506Lys) c.1564G>A (p.Glu522Lys) c.1660G>A (p.Glu554Lys) c.1606G>A (p.Glu536Lys) c.1567G>A (p.Glu523Lys) | |
18 | g.33739088G>C | CA402176120 | ASXL3 | c.1687G>C (p.Glu563Gln) c.1684G>C (p.Glu562Gln) c.*808G>C (n.*808G>C) c.*1343G>C (n.*1343G>C) c.1896G>C (n.1896G>C) c.1516G>C (p.Glu506Gln) c.1564G>C (p.Glu522Gln) c.1660G>C (p.Glu554Gln) c.1606G>C (p.Glu536Gln) c.1567G>C (p.Glu523Gln) | |
18 | g.33739088G>T | CA402176121 | ASXL3 | c.1687G>T (p.Glu563Ter) c.1684G>T (p.Glu562Ter) c.*808G>T (n.*808G>T) c.*1343G>T (n.*1343G>T) c.1896G>T (n.1896G>T) c.1516G>T (p.Glu506Ter) c.1564G>T (p.Glu522Ter) c.1660G>T (p.Glu554Ter) c.1606G>T (p.Glu536Ter) c.1567G>T (p.Glu523Ter) | |
18 | g.33739089A>C | CA402176122 | ASXL3 | c.1688A>C (p.Glu563Ala) c.1685A>C (p.Glu562Ala) c.*809A>C (n.*809A>C) c.*1344A>C (n.*1344A>C) c.1897A>C (n.1897A>C) c.1517A>C (p.Glu506Ala) c.1565A>C (p.Glu522Ala) c.1661A>C (p.Glu554Ala) c.1607A>C (p.Glu536Ala) c.1568A>C (p.Glu523Ala) | |
18 | g.33739089A>G | CA402176123 | ASXL3 | c.1688A>G (p.Glu563Gly) c.1685A>G (p.Glu562Gly) c.*809A>G (n.*809A>G) c.*1344A>G (n.*1344A>G) c.1897A>G (n.1897A>G) c.1517A>G (p.Glu506Gly) c.1565A>G (p.Glu522Gly) c.1661A>G (p.Glu554Gly) c.1607A>G (p.Glu536Gly) c.1568A>G (p.Glu523Gly) | |
18 | g.33739089A>T | CA402176124 | ASXL3 | c.1688A>T (p.Glu563Val) c.1685A>T (p.Glu562Val) c.*809A>T (n.*809A>T) c.*1344A>T (n.*1344A>T) c.1897A>T (n.1897A>T) c.1517A>T (p.Glu506Val) c.1565A>T (p.Glu522Val) c.1661A>T (p.Glu554Val) c.1607A>T (p.Glu536Val) c.1568A>T (p.Glu523Val) | |
18 | g.33739090A>C | CA402176125 | ASXL3 | c.1689A>C (p.Glu563Asp) c.1686A>C (p.Glu562Asp) c.*810A>C (n.*810A>C) c.*1345A>C (n.*1345A>C) c.1898A>C (n.1898A>C) c.1518A>C (p.Glu506Asp) c.1566A>C (p.Glu522Asp) c.1662A>C (p.Glu554Asp) c.1608A>C (p.Glu536Asp) c.1569A>C (p.Glu523Asp) | |
18 | g.33739090A>G | CA503768859 | ASXL3 | c.1689A>G (p.Glu563=) c.1686A>G (p.Glu562=) c.*810A>G (n.*810A>G) c.*1345A>G (n.*1345A>G) c.1898A>G (n.1898A>G) c.1518A>G (p.Glu506=) c.1566A>G (p.Glu522=) c.1662A>G (p.Glu554=) c.1608A>G (p.Glu536=) c.1569A>G (p.Glu523=) | |
18 | g.33739090A>T | CA402176126 | ASXL3 | c.1689A>T (p.Glu563Asp) c.1686A>T (p.Glu562Asp) c.*810A>T (n.*810A>T) c.*1345A>T (n.*1345A>T) c.1898A>T (n.1898A>T) c.1518A>T (p.Glu506Asp) c.1566A>T (p.Glu522Asp) c.1662A>T (p.Glu554Asp) c.1608A>T (p.Glu536Asp) c.1569A>T (p.Glu523Asp) | |
18 | g.33739091A= | CA2294855816 | ASXL3 | c.1690A= (p.Thr564=) c.1687A= (p.Thr563=) c.*811A= (n.*811A=) c.*1346A= (n.*1346A=) c.1899A= (n.1899A=) c.1519A= (p.Thr507=) c.1567A= (p.Thr523=) c.1663A= (p.Thr555=) c.1609A= (p.Thr537=) c.1570A= (p.Thr524=) | |
18 | g.33739091A>C | CA402176127 | ASXL3 | c.1690A>C (p.Thr564Pro) c.1687A>C (p.Thr563Pro) c.*811A>C (n.*811A>C) c.*1346A>C (n.*1346A>C) c.1899A>C (n.1899A>C) c.1519A>C (p.Thr507Pro) c.1567A>C (p.Thr523Pro) c.1663A>C (p.Thr555Pro) c.1609A>C (p.Thr537Pro) c.1570A>C (p.Thr524Pro) | |
18 | g.33739091A>G | CA8933793 | ASXL3 | c.1690A>G (p.Thr564Ala) c.1687A>G (p.Thr563Ala) c.*811A>G (n.*811A>G) c.*1346A>G (n.*1346A>G) c.1899A>G (n.1899A>G) c.1519A>G (p.Thr507Ala) c.1567A>G (p.Thr523Ala) c.1663A>G (p.Thr555Ala) c.1609A>G (p.Thr537Ala) c.1570A>G (p.Thr524Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739091A>T | CA402176128 | ASXL3 | c.1690A>T (p.Thr564Ser) c.1687A>T (p.Thr563Ser) c.*811A>T (n.*811A>T) c.*1346A>T (n.*1346A>T) c.1899A>T (n.1899A>T) c.1519A>T (p.Thr507Ser) c.1567A>T (p.Thr523Ser) c.1663A>T (p.Thr555Ser) c.1609A>T (p.Thr537Ser) c.1570A>T (p.Thr524Ser) | |
18 | g.33739092C>A | CA402176129 | ASXL3 | c.1691C>A (p.Thr564Asn) c.1688C>A (p.Thr563Asn) c.*812C>A (n.*812C>A) c.*1347C>A (n.*1347C>A) c.1900C>A (n.1900C>A) c.1520C>A (p.Thr507Asn) c.1568C>A (p.Thr523Asn) c.1664C>A (p.Thr555Asn) c.1610C>A (p.Thr537Asn) c.1571C>A (p.Thr524Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739092C= | CA2294855817 | ASXL3 | c.1691C= (p.Thr564=) c.1688C= (p.Thr563=) c.*812C= (n.*812C=) c.*1347C= (n.*1347C=) c.1900C= (n.1900C=) c.1520C= (p.Thr507=) c.1568C= (p.Thr523=) c.1664C= (p.Thr555=) c.1610C= (p.Thr537=) c.1571C= (p.Thr524=) | |
18 | g.33739092C>G | CA402176130 | ASXL3 | c.1691C>G (p.Thr564Ser) c.1688C>G (p.Thr563Ser) c.*812C>G (n.*812C>G) c.*1347C>G (n.*1347C>G) c.1900C>G (n.1900C>G) c.1520C>G (p.Thr507Ser) c.1568C>G (p.Thr523Ser) c.1664C>G (p.Thr555Ser) c.1610C>G (p.Thr537Ser) c.1571C>G (p.Thr524Ser) | |
18 | g.33739092C>T | CA8933794 | ASXL3 | c.1691C>T (p.Thr564Ile) c.1688C>T (p.Thr563Ile) c.*812C>T (n.*812C>T) c.*1347C>T (n.*1347C>T) c.1900C>T (n.1900C>T) c.1520C>T (p.Thr507Ile) c.1568C>T (p.Thr523Ile) c.1664C>T (p.Thr555Ile) c.1610C>T (p.Thr537Ile) c.1571C>T (p.Thr524Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.33739093T>A | CA503768866 | ASXL3 | c.1692T>A (p.Thr564=) c.1689T>A (p.Thr563=) c.*813T>A (n.*813T>A) c.*1348T>A (n.*1348T>A) c.1901T>A (n.1901T>A) c.1521T>A (p.Thr507=) c.1569T>A (p.Thr523=) c.1665T>A (p.Thr555=) c.1611T>A (p.Thr537=) c.1572T>A (p.Thr524=) | |
18 | g.33739093T>C | CA503768867 | ASXL3 | c.1692T>C (p.Thr564=) c.1689T>C (p.Thr563=) c.*813T>C (n.*813T>C) c.*1348T>C (n.*1348T>C) c.1901T>C (n.1901T>C) c.1521T>C (p.Thr507=) c.1569T>C (p.Thr523=) c.1665T>C (p.Thr555=) c.1611T>C (p.Thr537=) c.1572T>C (p.Thr524=) | |
18 | g.33739093T>G | CA8933795 | ASXL3 | c.1692T>G (p.Thr564=) c.1689T>G (p.Thr563=) c.*813T>G (n.*813T>G) c.*1348T>G (n.*1348T>G) c.1901T>G (n.1901T>G) c.1521T>G (p.Thr507=) c.1569T>G (p.Thr523=) c.1665T>G (p.Thr555=) c.1611T>G (p.Thr537=) c.1572T>G (p.Thr524=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739093T= | CA2294855818 | ASXL3 | c.1692T= (p.Thr564=) c.1689T= (p.Thr563=) c.*813T= (n.*813T=) c.*1348T= (n.*1348T=) c.1901T= (n.1901T=) c.1521T= (p.Thr507=) c.1569T= (p.Thr523=) c.1665T= (p.Thr555=) c.1611T= (p.Thr537=) c.1572T= (p.Thr524=) | |
18 | g.33739094G>A | CA297786913 | ASXL3 | c.1693G>A (p.Ala565Thr) c.1690G>A (p.Ala564Thr) c.*814G>A (n.*814G>A) c.*1349G>A (n.*1349G>A) c.1902G>A (n.1902G>A) c.1522G>A (p.Ala508Thr) c.1570G>A (p.Ala524Thr) c.1666G>A (p.Ala556Thr) c.1612G>A (p.Ala538Thr) c.1573G>A (p.Ala525Thr) | dbSNP |
18 | g.33739094G>C | CA402176131 | ASXL3 | c.1693G>C (p.Ala565Pro) c.1690G>C (p.Ala564Pro) c.*814G>C (n.*814G>C) c.*1349G>C (n.*1349G>C) c.1902G>C (n.1902G>C) c.1522G>C (p.Ala508Pro) c.1570G>C (p.Ala524Pro) c.1666G>C (p.Ala556Pro) c.1612G>C (p.Ala538Pro) c.1573G>C (p.Ala525Pro) | |
18 | g.33739094G= | CA2294855819 | ASXL3 | c.1693G= (p.Ala565=) c.1690G= (p.Ala564=) c.*814G= (n.*814G=) c.*1349G= (n.*1349G=) c.1902G= (n.1902G=) c.1522G= (p.Ala508=) c.1570G= (p.Ala524=) c.1666G= (p.Ala556=) c.1612G= (p.Ala538=) c.1573G= (p.Ala525=) | |
18 | g.33739094G>T | CA402176132 | ASXL3 | c.1693G>T (p.Ala565Ser) c.1690G>T (p.Ala564Ser) c.*814G>T (n.*814G>T) c.*1349G>T (n.*1349G>T) c.1902G>T (n.1902G>T) c.1522G>T (p.Ala508Ser) c.1570G>T (p.Ala524Ser) c.1666G>T (p.Ala556Ser) c.1612G>T (p.Ala538Ser) c.1573G>T (p.Ala525Ser) | gnomAD v4 |
18 | g.33739095C>A | CA297786917 | ASXL3 | c.1694C>A (p.Ala565Glu) c.1691C>A (p.Ala564Glu) c.*815C>A (n.*815C>A) c.*1350C>A (n.*1350C>A) c.1903C>A (n.1903C>A) c.1523C>A (p.Ala508Glu) c.1571C>A (p.Ala524Glu) c.1667C>A (p.Ala556Glu) c.1613C>A (p.Ala538Glu) c.1574C>A (p.Ala525Glu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739095C= | CA2294855820 | ASXL3 | c.1694C= (p.Ala565=) c.1691C= (p.Ala564=) c.*815C= (n.*815C=) c.*1350C= (n.*1350C=) c.1903C= (n.1903C=) c.1523C= (p.Ala508=) c.1571C= (p.Ala524=) c.1667C= (p.Ala556=) c.1613C= (p.Ala538=) c.1574C= (p.Ala525=) | |
18 | g.33739095C>G | CA402176133 | ASXL3 | c.1694C>G (p.Ala565Gly) c.1691C>G (p.Ala564Gly) c.*815C>G (n.*815C>G) c.*1350C>G (n.*1350C>G) c.1903C>G (n.1903C>G) c.1523C>G (p.Ala508Gly) c.1571C>G (p.Ala524Gly) c.1667C>G (p.Ala556Gly) c.1613C>G (p.Ala538Gly) c.1574C>G (p.Ala525Gly) | |
18 | g.33739095C>T | CA297786947 | ASXL3 | c.1694C>T (p.Ala565Val) c.1691C>T (p.Ala564Val) c.*815C>T (n.*815C>T) c.*1350C>T (n.*1350C>T) c.1903C>T (n.1903C>T) c.1523C>T (p.Ala508Val) c.1571C>T (p.Ala524Val) c.1667C>T (p.Ala556Val) c.1613C>T (p.Ala538Val) c.1574C>T (p.Ala525Val) | dbSNP gnomAD v4 |
18 | g.33739096A>C | CA503768508 | ASXL3 | c.1695A>C (p.Ala565=) c.1692A>C (p.Ala564=) c.*816A>C (n.*816A>C) c.*1351A>C (n.*1351A>C) c.1904A>C (n.1904A>C) c.1524A>C (p.Ala508=) c.1572A>C (p.Ala524=) c.1668A>C (p.Ala556=) c.1614A>C (p.Ala538=) c.1575A>C (p.Ala525=) | |
18 | g.33739096A>G | CA503768509 | ASXL3 | c.1695A>G (p.Ala565=) c.1692A>G (p.Ala564=) c.*816A>G (n.*816A>G) c.*1351A>G (n.*1351A>G) c.1904A>G (n.1904A>G) c.1524A>G (p.Ala508=) c.1572A>G (p.Ala524=) c.1668A>G (p.Ala556=) c.1614A>G (p.Ala538=) c.1575A>G (p.Ala525=) | |
18 | g.33739096A>T | CA503768511 | ASXL3 | c.1695A>T (p.Ala565=) c.1692A>T (p.Ala564=) c.*816A>T (n.*816A>T) c.*1351A>T (n.*1351A>T) c.1904A>T (n.1904A>T) c.1524A>T (p.Ala508=) c.1572A>T (p.Ala524=) c.1668A>T (p.Ala556=) c.1614A>T (p.Ala538=) c.1575A>T (p.Ala525=) | |
18 | g.33739097G>A | CA402176134 | ASXL3 | c.1696G>A (p.Val566Ile) c.1693G>A (p.Val565Ile) c.*817G>A (n.*817G>A) c.*1352G>A (n.*1352G>A) c.1905G>A (n.1905G>A) c.1525G>A (p.Val509Ile) c.1573G>A (p.Val525Ile) c.1669G>A (p.Val557Ile) c.1615G>A (p.Val539Ile) c.1576G>A (p.Val526Ile) | gnomAD v4 |
18 | g.33739097G>C | CA402176135 | ASXL3 | c.1696G>C (p.Val566Leu) c.1693G>C (p.Val565Leu) c.*817G>C (n.*817G>C) c.*1352G>C (n.*1352G>C) c.1905G>C (n.1905G>C) c.1525G>C (p.Val509Leu) c.1573G>C (p.Val525Leu) c.1669G>C (p.Val557Leu) c.1615G>C (p.Val539Leu) c.1576G>C (p.Val526Leu) | gnomAD v4 COSMIC COSMIC |
18 | g.33739097G>T | CA402176136 | ASXL3 | c.1696G>T (p.Val566Leu) c.1693G>T (p.Val565Leu) c.*817G>T (n.*817G>T) c.*1352G>T (n.*1352G>T) c.1905G>T (n.1905G>T) c.1525G>T (p.Val509Leu) c.1573G>T (p.Val525Leu) c.1669G>T (p.Val557Leu) c.1615G>T (p.Val539Leu) c.1576G>T (p.Val526Leu) | |
18 | g.33739098T>A | CA402176137 | ASXL3 | c.1697T>A (p.Val566Glu) c.1694T>A (p.Val565Glu) c.*818T>A (n.*818T>A) c.*1353T>A (n.*1353T>A) c.1906T>A (n.1906T>A) c.1526T>A (p.Val509Glu) c.1574T>A (p.Val525Glu) c.1670T>A (p.Val557Glu) c.1616T>A (p.Val539Glu) c.1577T>A (p.Val526Glu) | |
18 | g.33739098T>C | CA402176138 | ASXL3 | c.1697T>C (p.Val566Ala) c.1694T>C (p.Val565Ala) c.*818T>C (n.*818T>C) c.*1353T>C (n.*1353T>C) c.1906T>C (n.1906T>C) c.1526T>C (p.Val509Ala) c.1574T>C (p.Val525Ala) c.1670T>C (p.Val557Ala) c.1616T>C (p.Val539Ala) c.1577T>C (p.Val526Ala) | |
18 | g.33739098T>G | CA402176139 | ASXL3 | c.1697T>G (p.Val566Gly) c.1694T>G (p.Val565Gly) c.*818T>G (n.*818T>G) c.*1353T>G (n.*1353T>G) c.1906T>G (n.1906T>G) c.1526T>G (p.Val509Gly) c.1574T>G (p.Val525Gly) c.1670T>G (p.Val557Gly) c.1616T>G (p.Val539Gly) c.1577T>G (p.Val526Gly) | |
18 | g.33739098_33739100delinsTAG | CA2294855821 | ASXL3 | c.1697_1699delinsTAG (p.Val566=) c.1694_1696delinsTAG (p.Val565=) c.*818_*820delinsTAG (n.*818_*820delinsTAG) c.*1353_*1355delinsTAG (n.*1353_*1355delinsTAG) c.1906_1908delinsTAG (n.1906_1908delinsTAG) c.1526_1528delinsTAG (p.Val509=) c.1574_1576delinsTAG (p.Val525=) c.1670_1672delinsTAG (p.Val557=) c.1616_1618delinsTAG (p.Val539=) c.1577_1579delinsTAG (p.Val526=) | |
18 | g.33739099A>C | CA503768518 | ASXL3 | c.1698A>C (p.Val566=) c.1695A>C (p.Val565=) c.*819A>C (n.*819A>C) c.*1354A>C (n.*1354A>C) c.1907A>C (n.1907A>C) c.1527A>C (p.Val509=) c.1575A>C (p.Val525=) c.1671A>C (p.Val557=) c.1617A>C (p.Val539=) c.1578A>C (p.Val526=) | |
18 | g.33739099A>G | CA503768521 | ASXL3 | c.1698A>G (p.Val566=) c.1695A>G (p.Val565=) c.*819A>G (n.*819A>G) c.*1354A>G (n.*1354A>G) c.1907A>G (n.1907A>G) c.1527A>G (p.Val509=) c.1575A>G (p.Val525=) c.1671A>G (p.Val557=) c.1617A>G (p.Val539=) c.1578A>G (p.Val526=) | |
18 | g.33739099A>T | CA503768522 | ASXL3 | c.1698A>T (p.Val566=) c.1695A>T (p.Val565=) c.*819A>T (n.*819A>T) c.*1354A>T (n.*1354A>T) c.1907A>T (n.1907A>T) c.1527A>T (p.Val509=) c.1575A>T (p.Val525=) c.1671A>T (p.Val557=) c.1617A>T (p.Val539=) c.1578A>T (p.Val526=) | |
18 | g.33739102_33739103del | CA915951350 | ASXL3 | c.1701_1702del (p.Glu567AspfsTer20) c.1698_1699del (p.Glu566AspfsTer20) c.*822_*823del (n.*822_*823del) c.*1357_*1358del (n.*1357_*1358del) c.1910_1911del (n.1910_1911del) c.1530_1531del (p.Glu510AspfsTer20) c.1578_1579del (p.Glu526AspfsTer20) c.1674_1675del (p.Glu558AspfsTer20) c.1620_1621del (p.Glu540AspfsTer20) c.1581_1582del (p.Glu527AspfsTer20) | ClinVar dbSNP |
18 | g.33739100G>A | CA402176142 | ASXL3 | c.1699G>A (p.Glu567Lys) c.1696G>A (p.Glu566Lys) c.*820G>A (n.*820G>A) c.*1355G>A (n.*1355G>A) c.1908G>A (n.1908G>A) c.1528G>A (p.Glu510Lys) c.1576G>A (p.Glu526Lys) c.1672G>A (p.Glu558Lys) c.1618G>A (p.Glu540Lys) c.1579G>A (p.Glu527Lys) | |
18 | g.33739100G>C | CA402176141 | ASXL3 | c.1699G>C (p.Glu567Gln) c.1696G>C (p.Glu566Gln) c.*820G>C (n.*820G>C) c.*1355G>C (n.*1355G>C) c.1908G>C (n.1908G>C) c.1528G>C (p.Glu510Gln) c.1576G>C (p.Glu526Gln) c.1672G>C (p.Glu558Gln) c.1618G>C (p.Glu540Gln) c.1579G>C (p.Glu527Gln) | |
18 | g.33739100G>T | CA402176140 | ASXL3 | c.1699G>T (p.Glu567Ter) c.1696G>T (p.Glu566Ter) c.*820G>T (n.*820G>T) c.*1355G>T (n.*1355G>T) c.1908G>T (n.1908G>T) c.1528G>T (p.Glu510Ter) c.1576G>T (p.Glu526Ter) c.1672G>T (p.Glu558Ter) c.1618G>T (p.Glu540Ter) c.1579G>T (p.Glu527Ter) | |
18 | g.33739101A>C | CA402176143 | ASXL3 | c.1700A>C (p.Glu567Ala) c.1697A>C (p.Glu566Ala) c.*821A>C (n.*821A>C) c.*1356A>C (n.*1356A>C) c.1909A>C (n.1909A>C) c.1529A>C (p.Glu510Ala) c.1577A>C (p.Glu526Ala) c.1673A>C (p.Glu558Ala) c.1619A>C (p.Glu540Ala) c.1580A>C (p.Glu527Ala) | |
18 | g.33739101A>G | CA402176145 | ASXL3 | c.1700A>G (p.Glu567Gly) c.1697A>G (p.Glu566Gly) c.*821A>G (n.*821A>G) c.*1356A>G (n.*1356A>G) c.1909A>G (n.1909A>G) c.1529A>G (p.Glu510Gly) c.1577A>G (p.Glu526Gly) c.1673A>G (p.Glu558Gly) c.1619A>G (p.Glu540Gly) c.1580A>G (p.Glu527Gly) | |
18 | g.33739101A>T | CA402176144 | ASXL3 | c.1700A>T (p.Glu567Val) c.1697A>T (p.Glu566Val) c.*821A>T (n.*821A>T) c.*1356A>T (n.*1356A>T) c.1909A>T (n.1909A>T) c.1529A>T (p.Glu510Val) c.1577A>T (p.Glu526Val) c.1673A>T (p.Glu558Val) c.1619A>T (p.Glu540Val) c.1580A>T (p.Glu527Val) | |
18 | g.33739102G>A | CA503768523 | ASXL3 | c.1701G>A (p.Glu567=) c.1698G>A (p.Glu566=) c.*822G>A (n.*822G>A) c.*1357G>A (n.*1357G>A) c.1910G>A (n.1910G>A) c.1530G>A (p.Glu510=) c.1578G>A (p.Glu526=) c.1674G>A (p.Glu558=) c.1620G>A (p.Glu540=) c.1581G>A (p.Glu527=) | gnomAD v4 |
18 | g.33739102G>C | CA402176146 | ASXL3 | c.1701G>C (p.Glu567Asp) c.1698G>C (p.Glu566Asp) c.*822G>C (n.*822G>C) c.*1357G>C (n.*1357G>C) c.1910G>C (n.1910G>C) c.1530G>C (p.Glu510Asp) c.1578G>C (p.Glu526Asp) c.1674G>C (p.Glu558Asp) c.1620G>C (p.Glu540Asp) c.1581G>C (p.Glu527Asp) | COSMIC COSMIC |
18 | g.33739102G>T | CA402176147 | ASXL3 | c.1701G>T (p.Glu567Asp) c.1698G>T (p.Glu566Asp) c.*822G>T (n.*822G>T) c.*1357G>T (n.*1357G>T) c.1910G>T (n.1910G>T) c.1530G>T (p.Glu510Asp) c.1578G>T (p.Glu526Asp) c.1674G>T (p.Glu558Asp) c.1620G>T (p.Glu540Asp) c.1581G>T (p.Glu527Asp) | |
18 | g.33739103A>C | CA402176148 | ASXL3 | c.1702A>C (p.Thr568Pro) c.1699A>C (p.Thr567Pro) c.*823A>C (n.*823A>C) c.*1358A>C (n.*1358A>C) c.1911A>C (n.1911A>C) c.1531A>C (p.Thr511Pro) c.1579A>C (p.Thr527Pro) c.1675A>C (p.Thr559Pro) c.1621A>C (p.Thr541Pro) c.1582A>C (p.Thr528Pro) | |
18 | g.33739103A>G | CA402176149 | ASXL3 | c.1702A>G (p.Thr568Ala) c.1699A>G (p.Thr567Ala) c.*823A>G (n.*823A>G) c.*1358A>G (n.*1358A>G) c.1911A>G (n.1911A>G) c.1531A>G (p.Thr511Ala) c.1579A>G (p.Thr527Ala) c.1675A>G (p.Thr559Ala) c.1621A>G (p.Thr541Ala) c.1582A>G (p.Thr528Ala) | |
18 | g.33739103A>T | CA402176150 | ASXL3 | c.1702A>T (p.Thr568Ser) c.1699A>T (p.Thr567Ser) c.*823A>T (n.*823A>T) c.*1358A>T (n.*1358A>T) c.1911A>T (n.1911A>T) c.1531A>T (p.Thr511Ser) c.1579A>T (p.Thr527Ser) c.1675A>T (p.Thr559Ser) c.1621A>T (p.Thr541Ser) c.1582A>T (p.Thr528Ser) | |
18 | g.33739104C>A | CA402176151 | ASXL3 | c.1703C>A (p.Thr568Asn) c.1700C>A (p.Thr567Asn) c.*824C>A (n.*824C>A) c.*1359C>A (n.*1359C>A) c.1912C>A (n.1912C>A) c.1532C>A (p.Thr511Asn) c.1580C>A (p.Thr527Asn) c.1676C>A (p.Thr559Asn) c.1622C>A (p.Thr541Asn) c.1583C>A (p.Thr528Asn) | |
18 | g.33739104C= | CA2294855822 | ASXL3 | c.1703C= (p.Thr568=) c.1700C= (p.Thr567=) c.*824C= (n.*824C=) c.*1359C= (n.*1359C=) c.1912C= (n.1912C=) c.1532C= (p.Thr511=) c.1580C= (p.Thr527=) c.1676C= (p.Thr559=) c.1622C= (p.Thr541=) c.1583C= (p.Thr528=) | |
18 | g.33739104C>G | CA402176152 | ASXL3 | c.1703C>G (p.Thr568Ser) c.1700C>G (p.Thr567Ser) c.*824C>G (n.*824C>G) c.*1359C>G (n.*1359C>G) c.1912C>G (n.1912C>G) c.1532C>G (p.Thr511Ser) c.1580C>G (p.Thr527Ser) c.1676C>G (p.Thr559Ser) c.1622C>G (p.Thr541Ser) c.1583C>G (p.Thr528Ser) | dbSNP |
18 | g.33739104C>T | CA402176153 | ASXL3 | c.1703C>T (p.Thr568Ile) c.1700C>T (p.Thr567Ile) c.*824C>T (n.*824C>T) c.*1359C>T (n.*1359C>T) c.1912C>T (n.1912C>T) c.1532C>T (p.Thr511Ile) c.1580C>T (p.Thr527Ile) c.1676C>T (p.Thr559Ile) c.1622C>T (p.Thr541Ile) c.1583C>T (p.Thr528Ile) | |
18 | g.33739105C>A | CA503768530 | ASXL3 | c.1704C>A (p.Thr568=) c.1701C>A (p.Thr567=) c.*825C>A (n.*825C>A) c.*1360C>A (n.*1360C>A) c.1913C>A (n.1913C>A) c.1533C>A (p.Thr511=) c.1581C>A (p.Thr527=) c.1677C>A (p.Thr559=) c.1623C>A (p.Thr541=) c.1584C>A (p.Thr528=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739105C= | CA2294855823 | ASXL3 | c.1704C= (p.Thr568=) c.1701C= (p.Thr567=) c.*825C= (n.*825C=) c.*1360C= (n.*1360C=) c.1913C= (n.1913C=) c.1533C= (p.Thr511=) c.1581C= (p.Thr527=) c.1677C= (p.Thr559=) c.1623C= (p.Thr541=) c.1584C= (p.Thr528=) | |
18 | g.33739105C>G | CA503768532 | ASXL3 | c.1704C>G (p.Thr568=) c.1701C>G (p.Thr567=) c.*825C>G (n.*825C>G) c.*1360C>G (n.*1360C>G) c.1913C>G (n.1913C>G) c.1533C>G (p.Thr511=) c.1581C>G (p.Thr527=) c.1677C>G (p.Thr559=) c.1623C>G (p.Thr541=) c.1584C>G (p.Thr528=) | |
18 | g.33739105C>T | CA503768528 | ASXL3 | c.1704C>T (p.Thr568=) c.1701C>T (p.Thr567=) c.*825C>T (n.*825C>T) c.*1360C>T (n.*1360C>T) c.1913C>T (n.1913C>T) c.1533C>T (p.Thr511=) c.1581C>T (p.Thr527=) c.1677C>T (p.Thr559=) c.1623C>T (p.Thr541=) c.1584C>T (p.Thr528=) | |
18 | g.33739106A>C | CA402176154 | ASXL3 | c.1705A>C (p.Ser569Arg) c.1702A>C (p.Ser568Arg) c.*826A>C (n.*826A>C) c.*1361A>C (n.*1361A>C) c.1914A>C (n.1914A>C) c.1534A>C (p.Ser512Arg) c.1582A>C (p.Ser528Arg) c.1678A>C (p.Ser560Arg) c.1624A>C (p.Ser542Arg) c.1585A>C (p.Ser529Arg) | |
18 | g.33739106A>G | CA402176155 | ASXL3 | c.1705A>G (p.Ser569Gly) c.1702A>G (p.Ser568Gly) c.*826A>G (n.*826A>G) c.*1361A>G (n.*1361A>G) c.1914A>G (n.1914A>G) c.1534A>G (p.Ser512Gly) c.1582A>G (p.Ser528Gly) c.1678A>G (p.Ser560Gly) c.1624A>G (p.Ser542Gly) c.1585A>G (p.Ser529Gly) | |
18 | g.33739106A>T | CA402176156 | ASXL3 | c.1705A>T (p.Ser569Cys) c.1702A>T (p.Ser568Cys) c.*826A>T (n.*826A>T) c.*1361A>T (n.*1361A>T) c.1914A>T (n.1914A>T) c.1534A>T (p.Ser512Cys) c.1582A>T (p.Ser528Cys) c.1678A>T (p.Ser560Cys) c.1624A>T (p.Ser542Cys) c.1585A>T (p.Ser529Cys) | |
18 | g.33739107G>A | CA402176158 | ASXL3 | c.1706G>A (p.Ser569Asn) c.1703G>A (p.Ser568Asn) c.*827G>A (n.*827G>A) c.*1362G>A (n.*1362G>A) c.1915G>A (n.1915G>A) c.1535G>A (p.Ser512Asn) c.1583G>A (p.Ser528Asn) c.1679G>A (p.Ser560Asn) c.1625G>A (p.Ser542Asn) c.1586G>A (p.Ser529Asn) | |
18 | g.33739107G>C | CA8933796 | ASXL3 | c.1706G>C (p.Ser569Thr) c.1703G>C (p.Ser568Thr) c.*827G>C (n.*827G>C) c.*1362G>C (n.*1362G>C) c.1915G>C (n.1915G>C) c.1535G>C (p.Ser512Thr) c.1583G>C (p.Ser528Thr) c.1679G>C (p.Ser560Thr) c.1625G>C (p.Ser542Thr) c.1586G>C (p.Ser529Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739107G= | CA2294855824 | ASXL3 | c.1706G= (p.Ser569=) c.1703G= (p.Ser568=) c.*827G= (n.*827G=) c.*1362G= (n.*1362G=) c.1915G= (n.1915G=) c.1535G= (p.Ser512=) c.1583G= (p.Ser528=) c.1679G= (p.Ser560=) c.1625G= (p.Ser542=) c.1586G= (p.Ser529=) | |
18 | g.33739107G>T | CA402176157 | ASXL3 | c.1706G>T (p.Ser569Ile) c.1703G>T (p.Ser568Ile) c.*827G>T (n.*827G>T) c.*1362G>T (n.*1362G>T) c.1915G>T (n.1915G>T) c.1535G>T (p.Ser512Ile) c.1583G>T (p.Ser528Ile) c.1679G>T (p.Ser560Ile) c.1625G>T (p.Ser542Ile) c.1586G>T (p.Ser529Ile) | |
18 | g.33739107_33739108insGCTC | CA2521101698 | ASXL3 | c.1706_1707insGCTC (p.Ser569ArgfsTer20) c.1703_1704insGCTC (p.Ser568ArgfsTer20) c.*827_*828insGCTC (n.*827_*828insGCTC) c.*1362_*1363insGCTC (n.*1362_*1363insGCTC) c.1915_1916insGCTC (n.1915_1916insGCTC) c.1535_1536insGCTC (p.Ser512ArgfsTer20) c.1583_1584insGCTC (p.Ser528ArgfsTer20) c.1679_1680insGCTC (p.Ser560ArgfsTer20) c.1625_1626insGCTC (p.Ser542ArgfsTer20) c.1586_1587insGCTC (p.Ser529ArgfsTer20) | |
18 | g.33739108T>A | CA402176159 | ASXL3 | c.1707T>A (p.Ser569Arg) c.1704T>A (p.Ser568Arg) c.*828T>A (n.*828T>A) c.*1363T>A (n.*1363T>A) c.1916T>A (n.1916T>A) c.1536T>A (p.Ser512Arg) c.1584T>A (p.Ser528Arg) c.1680T>A (p.Ser560Arg) c.1626T>A (p.Ser542Arg) c.1587T>A (p.Ser529Arg) | |
18 | g.33739108T>C | CA503768535 | ASXL3 | c.1707T>C (p.Ser569=) c.1704T>C (p.Ser568=) c.*828T>C (n.*828T>C) c.*1363T>C (n.*1363T>C) c.1916T>C (n.1916T>C) c.1536T>C (p.Ser512=) c.1584T>C (p.Ser528=) c.1680T>C (p.Ser560=) c.1626T>C (p.Ser542=) c.1587T>C (p.Ser529=) | |
18 | g.33739108T>G | CA402176160 | ASXL3 | c.1707T>G (p.Ser569Arg) c.1704T>G (p.Ser568Arg) c.*828T>G (n.*828T>G) c.*1363T>G (n.*1363T>G) c.1916T>G (n.1916T>G) c.1536T>G (p.Ser512Arg) c.1584T>G (p.Ser528Arg) c.1680T>G (p.Ser560Arg) c.1626T>G (p.Ser542Arg) c.1587T>G (p.Ser529Arg) | |
18 | g.33739109A= | CA2294855825 | ASXL3 | c.1708A= (p.Thr570=) c.1705A= (p.Thr569=) c.*829A= (n.*829A=) c.*1364A= (n.*1364A=) c.1917A= (n.1917A=) c.1537A= (p.Thr513=) c.1585A= (p.Thr529=) c.1681A= (p.Thr561=) c.1627A= (p.Thr543=) c.1588A= (p.Thr530=) | |
18 | g.33739109A>C | CA402176161 | ASXL3 | c.1708A>C (p.Thr570Pro) c.1705A>C (p.Thr569Pro) c.*829A>C (n.*829A>C) c.*1364A>C (n.*1364A>C) c.1917A>C (n.1917A>C) c.1537A>C (p.Thr513Pro) c.1585A>C (p.Thr529Pro) c.1681A>C (p.Thr561Pro) c.1627A>C (p.Thr543Pro) c.1588A>C (p.Thr530Pro) | |
18 | g.33739109A>G | CA402176162 | ASXL3 | c.1708A>G (p.Thr570Ala) c.1705A>G (p.Thr569Ala) c.*829A>G (n.*829A>G) c.*1364A>G (n.*1364A>G) c.1917A>G (n.1917A>G) c.1537A>G (p.Thr513Ala) c.1585A>G (p.Thr529Ala) c.1681A>G (p.Thr561Ala) c.1627A>G (p.Thr543Ala) c.1588A>G (p.Thr530Ala) | |
18 | g.33739109A>T | CA8933797 | ASXL3 | c.1708A>T (p.Thr570Ser) c.1705A>T (p.Thr569Ser) c.*829A>T (n.*829A>T) c.*1364A>T (n.*1364A>T) c.1917A>T (n.1917A>T) c.1537A>T (p.Thr513Ser) c.1585A>T (p.Thr529Ser) c.1681A>T (p.Thr561Ser) c.1627A>T (p.Thr543Ser) c.1588A>T (p.Thr530Ser) | dbSNP ExAC gnomAD v2 |
18 | g.33739109_33739110delinsAC | CA2294855826 | ASXL3 | c.1708_1709delinsAC (p.Thr570=) c.1705_1706delinsAC (p.Thr569=) c.*829_*830delinsAC (n.*829_*830delinsAC) c.*1364_*1365delinsAC (n.*1364_*1365delinsAC) c.1917_1918delinsAC (n.1917_1918delinsAC) c.1537_1538delinsAC (p.Thr513=) c.1585_1586delinsAC (p.Thr529=) c.1681_1682delinsAC (p.Thr561=) c.1627_1628delinsAC (p.Thr543=) c.1588_1589delinsAC (p.Thr530=) | |
18 | g.33739110C>A | CA8933798 | ASXL3 | c.1709C>A (p.Thr570Asn) c.1706C>A (p.Thr569Asn) c.*830C>A (n.*830C>A) c.*1365C>A (n.*1365C>A) c.1918C>A (n.1918C>A) c.1538C>A (p.Thr513Asn) c.1586C>A (p.Thr529Asn) c.1682C>A (p.Thr561Asn) c.1628C>A (p.Thr543Asn) c.1589C>A (p.Thr530Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739110C= | CA2294855827 | ASXL3 | c.1709C= (p.Thr570=) c.1706C= (p.Thr569=) c.*830C= (n.*830C=) c.*1365C= (n.*1365C=) c.1918C= (n.1918C=) c.1538C= (p.Thr513=) c.1586C= (p.Thr529=) c.1682C= (p.Thr561=) c.1628C= (p.Thr543=) c.1589C= (p.Thr530=) | |
18 | g.33739110C>G | CA402176163 | ASXL3 | c.1709C>G (p.Thr570Ser) c.1706C>G (p.Thr569Ser) c.*830C>G (n.*830C>G) c.*1365C>G (n.*1365C>G) c.1918C>G (n.1918C>G) c.1538C>G (p.Thr513Ser) c.1586C>G (p.Thr529Ser) c.1682C>G (p.Thr561Ser) c.1628C>G (p.Thr543Ser) c.1589C>G (p.Thr530Ser) | |
18 | g.33739110C>T | CA402176164 | ASXL3 | c.1709C>T (p.Thr570Ile) c.1706C>T (p.Thr569Ile) c.*830C>T (n.*830C>T) c.*1365C>T (n.*1365C>T) c.1918C>T (n.1918C>T) c.1538C>T (p.Thr513Ile) c.1586C>T (p.Thr529Ile) c.1682C>T (p.Thr561Ile) c.1628C>T (p.Thr543Ile) c.1589C>T (p.Thr530Ile) | COSMIC COSMIC |
18 | g.33739114del | CA919961547 | ASXL3 | c.1713del (p.Ile573Ter) c.1710del (p.Ile572Ter) c.*834del (n.*834del) c.*1369del (n.*1369del) c.1922del (n.1922del) c.1542del (p.Ile516Ter) c.1590del (p.Ile532Ter) c.1686del (p.Ile564Ter) c.1632del (p.Ile546Ter) c.1593del (p.Ile533Ter) | dbSNP |
18 | g.33739111C>A | CA503768539 | ASXL3 | c.1710C>A (p.Thr570=) c.1707C>A (p.Thr569=) c.*831C>A (n.*831C>A) c.*1366C>A (n.*1366C>A) c.1919C>A (n.1919C>A) c.1539C>A (p.Thr513=) c.1587C>A (p.Thr529=) c.1683C>A (p.Thr561=) c.1629C>A (p.Thr543=) c.1590C>A (p.Thr530=) | dbSNP |
18 | g.33739111C= | CA2294855828 | ASXL3 | c.1710C= (p.Thr570=) c.1707C= (p.Thr569=) c.*831C= (n.*831C=) c.*1366C= (n.*1366C=) c.1919C= (n.1919C=) c.1539C= (p.Thr513=) c.1587C= (p.Thr529=) c.1683C= (p.Thr561=) c.1629C= (p.Thr543=) c.1590C= (p.Thr530=) | |
18 | g.33739111C>G | CA503768540 | ASXL3 | c.1710C>G (p.Thr570=) c.1707C>G (p.Thr569=) c.*831C>G (n.*831C>G) c.*1366C>G (n.*1366C>G) c.1919C>G (n.1919C>G) c.1539C>G (p.Thr513=) c.1587C>G (p.Thr529=) c.1683C>G (p.Thr561=) c.1629C>G (p.Thr543=) c.1590C>G (p.Thr530=) | |
18 | g.33739111C>T | CA207793 | ASXL3 | c.1710C>T (p.Thr570=) c.1707C>T (p.Thr569=) c.*831C>T (n.*831C>T) c.*1366C>T (n.*1366C>T) c.1919C>T (n.1919C>T) c.1539C>T (p.Thr513=) c.1587C>T (p.Thr529=) c.1683C>T (p.Thr561=) c.1629C>T (p.Thr543=) c.1590C>T (p.Thr530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739112C>A | CA402176165 | ASXL3 | c.1711C>A (p.Pro571Thr) c.1708C>A (p.Pro570Thr) c.*832C>A (n.*832C>A) c.*1367C>A (n.*1367C>A) c.1920C>A (n.1920C>A) c.1540C>A (p.Pro514Thr) c.1588C>A (p.Pro530Thr) c.1684C>A (p.Pro562Thr) c.1630C>A (p.Pro544Thr) c.1591C>A (p.Pro531Thr) | |
18 | g.33739112C>G | CA402176166 | ASXL3 | c.1711C>G (p.Pro571Ala) c.1708C>G (p.Pro570Ala) c.*832C>G (n.*832C>G) c.*1367C>G (n.*1367C>G) c.1920C>G (n.1920C>G) c.1540C>G (p.Pro514Ala) c.1588C>G (p.Pro530Ala) c.1684C>G (p.Pro562Ala) c.1630C>G (p.Pro544Ala) c.1591C>G (p.Pro531Ala) | |
18 | g.33739112C>T | CA402176167 | ASXL3 | c.1711C>T (p.Pro571Ser) c.1708C>T (p.Pro570Ser) c.*832C>T (n.*832C>T) c.*1367C>T (n.*1367C>T) c.1920C>T (n.1920C>T) c.1540C>T (p.Pro514Ser) c.1588C>T (p.Pro530Ser) c.1684C>T (p.Pro562Ser) c.1630C>T (p.Pro544Ser) c.1591C>T (p.Pro531Ser) | |
18 | g.33739113C>A | CA402176169 | ASXL3 | c.1712C>A (p.Pro571His) c.1709C>A (p.Pro570His) c.*833C>A (n.*833C>A) c.*1368C>A (n.*1368C>A) c.1921C>A (n.1921C>A) c.1541C>A (p.Pro514His) c.1589C>A (p.Pro530His) c.1685C>A (p.Pro562His) c.1631C>A (p.Pro544His) c.1592C>A (p.Pro531His) | |
18 | g.33739113C= | CA2294855829 | ASXL3 | c.1712C= (p.Pro571=) c.1709C= (p.Pro570=) c.*833C= (n.*833C=) c.*1368C= (n.*1368C=) c.1921C= (n.1921C=) c.1541C= (p.Pro514=) c.1589C= (p.Pro530=) c.1685C= (p.Pro562=) c.1631C= (p.Pro544=) c.1592C= (p.Pro531=) | |
18 | g.33739113C>G | CA402176168 | ASXL3 | c.1712C>G (p.Pro571Arg) c.1709C>G (p.Pro570Arg) c.*833C>G (n.*833C>G) c.*1368C>G (n.*1368C>G) c.1921C>G (n.1921C>G) c.1541C>G (p.Pro514Arg) c.1589C>G (p.Pro530Arg) c.1685C>G (p.Pro562Arg) c.1631C>G (p.Pro544Arg) c.1592C>G (p.Pro531Arg) | |
18 | g.33739113C>T | CA8933799 | ASXL3 | c.1712C>T (p.Pro571Leu) c.1709C>T (p.Pro570Leu) c.*833C>T (n.*833C>T) c.*1368C>T (n.*1368C>T) c.1921C>T (n.1921C>T) c.1541C>T (p.Pro514Leu) c.1589C>T (p.Pro530Leu) c.1685C>T (p.Pro562Leu) c.1631C>T (p.Pro544Leu) c.1592C>T (p.Pro531Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739114C>A | CA503768547 | ASXL3 | c.1713C>A (p.Pro571=) c.1710C>A (p.Pro570=) c.*834C>A (n.*834C>A) c.*1369C>A (n.*1369C>A) c.1922C>A (n.1922C>A) c.1542C>A (p.Pro514=) c.1590C>A (p.Pro530=) c.1686C>A (p.Pro562=) c.1632C>A (p.Pro544=) c.1593C>A (p.Pro531=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739114C= | CA2294855830 | ASXL3 | c.1713C= (p.Pro571=) c.1710C= (p.Pro570=) c.*834C= (n.*834C=) c.*1369C= (n.*1369C=) c.1922C= (n.1922C=) c.1542C= (p.Pro514=) c.1590C= (p.Pro530=) c.1686C= (p.Pro562=) c.1632C= (p.Pro544=) c.1593C= (p.Pro531=) | |
18 | g.33739114C>G | CA503768548 | ASXL3 | c.1713C>G (p.Pro571=) c.1710C>G (p.Pro570=) c.*834C>G (n.*834C>G) c.*1369C>G (n.*1369C>G) c.1922C>G (n.1922C>G) c.1542C>G (p.Pro514=) c.1590C>G (p.Pro530=) c.1686C>G (p.Pro562=) c.1632C>G (p.Pro544=) c.1593C>G (p.Pro531=) | |
18 | g.33739114C>T | CA503768549 | ASXL3 | c.1713C>T (p.Pro571=) c.1710C>T (p.Pro570=) c.*834C>T (n.*834C>T) c.*1369C>T (n.*1369C>T) c.1922C>T (n.1922C>T) c.1542C>T (p.Pro514=) c.1590C>T (p.Pro530=) c.1686C>T (p.Pro562=) c.1632C>T (p.Pro544=) c.1593C>T (p.Pro531=) | |
18 | g.33739115A= | CA2294855831 | ASXL3 | c.1714A= (p.Lys572=) c.1711A= (p.Lys571=) c.*835A= (n.*835A=) c.*1370A= (n.*1370A=) c.1923A= (n.1923A=) c.1543A= (p.Lys515=) c.1591A= (p.Lys531=) c.1687A= (p.Lys563=) c.1633A= (p.Lys545=) c.1594A= (p.Lys532=) | |
18 | g.33739115A>C | CA402176170 | ASXL3 | c.1714A>C (p.Lys572Gln) c.1711A>C (p.Lys571Gln) c.*835A>C (n.*835A>C) c.*1370A>C (n.*1370A>C) c.1923A>C (n.1923A>C) c.1543A>C (p.Lys515Gln) c.1591A>C (p.Lys531Gln) c.1687A>C (p.Lys563Gln) c.1633A>C (p.Lys545Gln) c.1594A>C (p.Lys532Gln) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739115A>G | CA402176171 | ASXL3 | c.1714A>G (p.Lys572Glu) c.1711A>G (p.Lys571Glu) c.*835A>G (n.*835A>G) c.*1370A>G (n.*1370A>G) c.1923A>G (n.1923A>G) c.1543A>G (p.Lys515Glu) c.1591A>G (p.Lys531Glu) c.1687A>G (p.Lys563Glu) c.1633A>G (p.Lys545Glu) c.1594A>G (p.Lys532Glu) | |
18 | g.33739115A>T | CA402176172 | ASXL3 | c.1714A>T (p.Lys572Ter) c.1711A>T (p.Lys571Ter) c.*835A>T (n.*835A>T) c.*1370A>T (n.*1370A>T) c.1923A>T (n.1923A>T) c.1543A>T (p.Lys515Ter) c.1591A>T (p.Lys531Ter) c.1687A>T (p.Lys563Ter) c.1633A>T (p.Lys545Ter) c.1594A>T (p.Lys532Ter) | COSMIC COSMIC |
18 | g.33739118del | CA2499225133 | ASXL3 | c.1717del (p.Ile573Ter) c.1714del (p.Ile572Ter) c.*838del (n.*838del) c.*1373del (n.*1373del) c.1926del (n.1926del) c.1546del (p.Ile516Ter) c.1594del (p.Ile532Ter) c.1690del (p.Ile564Ter) c.1636del (p.Ile546Ter) c.1597del (p.Ile533Ter) | ClinVar dbSNP |
18 | g.33739116A>C | CA402176173 | ASXL3 | c.1715A>C (p.Lys572Thr) c.1712A>C (p.Lys571Thr) c.*836A>C (n.*836A>C) c.*1371A>C (n.*1371A>C) c.1924A>C (n.1924A>C) c.1544A>C (p.Lys515Thr) c.1592A>C (p.Lys531Thr) c.1688A>C (p.Lys563Thr) c.1634A>C (p.Lys545Thr) c.1595A>C (p.Lys532Thr) | |
18 | g.33739116A>G | CA402176174 | ASXL3 | c.1715A>G (p.Lys572Arg) c.1712A>G (p.Lys571Arg) c.*836A>G (n.*836A>G) c.*1371A>G (n.*1371A>G) c.1924A>G (n.1924A>G) c.1544A>G (p.Lys515Arg) c.1592A>G (p.Lys531Arg) c.1688A>G (p.Lys563Arg) c.1634A>G (p.Lys545Arg) c.1595A>G (p.Lys532Arg) | |
18 | g.33739116A>T | CA402176175 | ASXL3 | c.1715A>T (p.Lys572Ile) c.1712A>T (p.Lys571Ile) c.*836A>T (n.*836A>T) c.*1371A>T (n.*1371A>T) c.1924A>T (n.1924A>T) c.1544A>T (p.Lys515Ile) c.1592A>T (p.Lys531Ile) c.1688A>T (p.Lys563Ile) c.1634A>T (p.Lys545Ile) c.1595A>T (p.Lys532Ile) | |
18 | g.33739117A>C | CA402176176 | ASXL3 | c.1716A>C (p.Lys572Asn) c.1713A>C (p.Lys571Asn) c.*837A>C (n.*837A>C) c.*1372A>C (n.*1372A>C) c.1925A>C (n.1925A>C) c.1545A>C (p.Lys515Asn) c.1593A>C (p.Lys531Asn) c.1689A>C (p.Lys563Asn) c.1635A>C (p.Lys545Asn) c.1596A>C (p.Lys532Asn) | |
18 | g.33739117A>G | CA503768554 | ASXL3 | c.1716A>G (p.Lys572=) c.1713A>G (p.Lys571=) c.*837A>G (n.*837A>G) c.*1372A>G (n.*1372A>G) c.1925A>G (n.1925A>G) c.1545A>G (p.Lys515=) c.1593A>G (p.Lys531=) c.1689A>G (p.Lys563=) c.1635A>G (p.Lys545=) c.1596A>G (p.Lys532=) | |
18 | g.33739117A>T | CA402176177 | ASXL3 | c.1716A>T (p.Lys572Asn) c.1713A>T (p.Lys571Asn) c.*837A>T (n.*837A>T) c.*1372A>T (n.*1372A>T) c.1925A>T (n.1925A>T) c.1545A>T (p.Lys515Asn) c.1593A>T (p.Lys531Asn) c.1689A>T (p.Lys563Asn) c.1635A>T (p.Lys545Asn) c.1596A>T (p.Lys532Asn) | |
18 | g.33739117_33739118insCACACCCAACAC | CA2812055530 | ASXL3 | c.1716_1717insCACACCCAACAC (p.Lys572_Ile573insHisThrGlnHis) c.1713_1714insCACACCCAACAC (p.Lys571_Ile572insHisThrGlnHis) c.*837_*838insCACACCCAACAC (n.*837_*838insCACACCCAACAC) c.*1372_*1373insCACACCCAACAC (n.*1372_*1373insCACACCCAACAC) c.1925_1926insCACACCCAACAC (n.1925_1926insCACACCCAACAC) c.1545_1546insCACACCCAACAC (p.Lys515_Ile516insHisThrGlnHis) c.1593_1594insCACACCCAACAC (p.Lys531_Ile532insHisThrGlnHis) c.1689_1690insCACACCCAACAC (p.Lys563_Ile564insHisThrGlnHis) c.1635_1636insCACACCCAACAC (p.Lys545_Ile546insHisThrGlnHis) c.1596_1597insCACACCCAACAC (p.Lys532_Ile533insHisThrGlnHis) | |
18 | g.33739118A>C | CA402176178 | ASXL3 | c.1717A>C (p.Ile573Leu) c.1714A>C (p.Ile572Leu) c.*838A>C (n.*838A>C) c.*1373A>C (n.*1373A>C) c.1926A>C (n.1926A>C) c.1546A>C (p.Ile516Leu) c.1594A>C (p.Ile532Leu) c.1690A>C (p.Ile564Leu) c.1636A>C (p.Ile546Leu) c.1597A>C (p.Ile533Leu) | |
18 | g.33739118A>G | CA402176179 | ASXL3 | c.1717A>G (p.Ile573Val) c.1714A>G (p.Ile572Val) c.*838A>G (n.*838A>G) c.*1373A>G (n.*1373A>G) c.1926A>G (n.1926A>G) c.1546A>G (p.Ile516Val) c.1594A>G (p.Ile532Val) c.1690A>G (p.Ile564Val) c.1636A>G (p.Ile546Val) c.1597A>G (p.Ile533Val) | |
18 | g.33739118A>T | CA402176180 | ASXL3 | c.1717A>T (p.Ile573Leu) c.1714A>T (p.Ile572Leu) c.*838A>T (n.*838A>T) c.*1373A>T (n.*1373A>T) c.1926A>T (n.1926A>T) c.1546A>T (p.Ile516Leu) c.1594A>T (p.Ile532Leu) c.1690A>T (p.Ile564Leu) c.1636A>T (p.Ile546Leu) c.1597A>T (p.Ile533Leu) | |
18 | g.33739119T>A | CA402176181 | ASXL3 | c.1718T>A (p.Ile573Lys) c.1715T>A (p.Ile572Lys) c.*839T>A (n.*839T>A) c.*1374T>A (n.*1374T>A) c.1927T>A (n.1927T>A) c.1547T>A (p.Ile516Lys) c.1595T>A (p.Ile532Lys) c.1691T>A (p.Ile564Lys) c.1637T>A (p.Ile546Lys) c.1598T>A (p.Ile533Lys) | |
18 | g.33739119T>C | CA8933800 | ASXL3 | c.1718T>C (p.Ile573Thr) c.1715T>C (p.Ile572Thr) c.*839T>C (n.*839T>C) c.*1374T>C (n.*1374T>C) c.1927T>C (n.1927T>C) c.1547T>C (p.Ile516Thr) c.1595T>C (p.Ile532Thr) c.1691T>C (p.Ile564Thr) c.1637T>C (p.Ile546Thr) c.1598T>C (p.Ile533Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739119T>G | CA402176182 | ASXL3 | c.1718T>G (p.Ile573Arg) c.1715T>G (p.Ile572Arg) c.*839T>G (n.*839T>G) c.*1374T>G (n.*1374T>G) c.1927T>G (n.1927T>G) c.1547T>G (p.Ile516Arg) c.1595T>G (p.Ile532Arg) c.1691T>G (p.Ile564Arg) c.1637T>G (p.Ile546Arg) c.1598T>G (p.Ile533Arg) | |
18 | g.33739119T= | CA2294855832 | ASXL3 | c.1718T= (p.Ile573=) c.1715T= (p.Ile572=) c.*839T= (n.*839T=) c.*1374T= (n.*1374T=) c.1927T= (n.1927T=) c.1547T= (p.Ile516=) c.1595T= (p.Ile532=) c.1691T= (p.Ile564=) c.1637T= (p.Ile546=) c.1598T= (p.Ile533=) | |
18 | g.33739120A= | CA2294855833 | ASXL3 | c.1719A= (p.Ile573=) c.1716A= (p.Ile572=) c.*840A= (n.*840A=) c.*1375A= (n.*1375A=) c.1928A= (n.1928A=) c.1548A= (p.Ile516=) c.1596A= (p.Ile532=) c.1692A= (p.Ile564=) c.1638A= (p.Ile546=) c.1599A= (p.Ile533=) | |
18 | g.33739120A>C | CA503768558 | ASXL3 | c.1719A>C (p.Ile573=) c.1716A>C (p.Ile572=) c.*840A>C (n.*840A>C) c.*1375A>C (n.*1375A>C) c.1928A>C (n.1928A>C) c.1548A>C (p.Ile516=) c.1596A>C (p.Ile532=) c.1692A>C (p.Ile564=) c.1638A>C (p.Ile546=) c.1599A>C (p.Ile533=) | |
18 | g.33739120A>G | CA402176183 | ASXL3 | c.1719A>G (p.Ile573Met) c.1716A>G (p.Ile572Met) c.*840A>G (n.*840A>G) c.*1375A>G (n.*1375A>G) c.1928A>G (n.1928A>G) c.1548A>G (p.Ile516Met) c.1596A>G (p.Ile532Met) c.1692A>G (p.Ile564Met) c.1638A>G (p.Ile546Met) c.1599A>G (p.Ile533Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739120A>T | CA503768559 | ASXL3 | c.1719A>T (p.Ile573=) c.1716A>T (p.Ile572=) c.*840A>T (n.*840A>T) c.*1375A>T (n.*1375A>T) c.1928A>T (n.1928A>T) c.1548A>T (p.Ile516=) c.1596A>T (p.Ile532=) c.1692A>T (p.Ile564=) c.1638A>T (p.Ile546=) c.1599A>T (p.Ile533=) | |
18 | g.33739121A>C | CA402176184 | ASXL3 | c.1720A>C (p.Lys574Gln) c.1717A>C (p.Lys573Gln) c.*841A>C (n.*841A>C) c.*1376A>C (n.*1376A>C) c.1929A>C (n.1929A>C) c.1549A>C (p.Lys517Gln) c.1597A>C (p.Lys533Gln) c.1693A>C (p.Lys565Gln) c.1639A>C (p.Lys547Gln) c.1600A>C (p.Lys534Gln) | |
18 | g.33739121A>G | CA402176185 | ASXL3 | c.1720A>G (p.Lys574Glu) c.1717A>G (p.Lys573Glu) c.*841A>G (n.*841A>G) c.*1376A>G (n.*1376A>G) c.1929A>G (n.1929A>G) c.1549A>G (p.Lys517Glu) c.1597A>G (p.Lys533Glu) c.1693A>G (p.Lys565Glu) c.1639A>G (p.Lys547Glu) c.1600A>G (p.Lys534Glu) | |
18 | g.33739121A>T | CA402176186 | ASXL3 | c.1720A>T (p.Lys574Ter) c.1717A>T (p.Lys573Ter) c.*841A>T (n.*841A>T) c.*1376A>T (n.*1376A>T) c.1929A>T (n.1929A>T) c.1549A>T (p.Lys517Ter) c.1597A>T (p.Lys533Ter) c.1693A>T (p.Lys565Ter) c.1639A>T (p.Lys547Ter) c.1600A>T (p.Lys534Ter) | |
18 | g.33739121_33739122insCC | CA2812055531 | ASXL3 | c.1720_1721insCC (p.Lys574ThrfsTer8) c.1717_1718insCC (p.Lys573ThrfsTer8) c.*841_*842insCC (n.*841_*842insCC) c.*1376_*1377insCC (n.*1376_*1377insCC) c.1929_1930insCC (n.1929_1930insCC) c.1549_1550insCC (p.Lys517ThrfsTer8) c.1597_1598insCC (p.Lys533ThrfsTer8) c.1693_1694insCC (p.Lys565ThrfsTer8) c.1639_1640insCC (p.Lys547ThrfsTer8) c.1600_1601insCC (p.Lys534ThrfsTer8) | |
18 | g.33739122A>C | CA402176187 | ASXL3 | c.1721A>C (p.Lys574Thr) c.1718A>C (p.Lys573Thr) c.*842A>C (n.*842A>C) c.*1377A>C (n.*1377A>C) c.1930A>C (n.1930A>C) c.1550A>C (p.Lys517Thr) c.1598A>C (p.Lys533Thr) c.1694A>C (p.Lys565Thr) c.1640A>C (p.Lys547Thr) c.1601A>C (p.Lys534Thr) | |
18 | g.33739122A>G | CA402176188 | ASXL3 | c.1721A>G (p.Lys574Arg) c.1718A>G (p.Lys573Arg) c.*842A>G (n.*842A>G) c.*1377A>G (n.*1377A>G) c.1930A>G (n.1930A>G) c.1550A>G (p.Lys517Arg) c.1598A>G (p.Lys533Arg) c.1694A>G (p.Lys565Arg) c.1640A>G (p.Lys547Arg) c.1601A>G (p.Lys534Arg) | |
18 | g.33739122A>T | CA402176189 | ASXL3 | c.1721A>T (p.Lys574Ile) c.1718A>T (p.Lys573Ile) c.*842A>T (n.*842A>T) c.*1377A>T (n.*1377A>T) c.1930A>T (n.1930A>T) c.1550A>T (p.Lys517Ile) c.1598A>T (p.Lys533Ile) c.1694A>T (p.Lys565Ile) c.1640A>T (p.Lys547Ile) c.1601A>T (p.Lys534Ile) | |
18 | g.33739123A>C | CA402176190 | ASXL3 | c.1722A>C (p.Lys574Asn) c.1719A>C (p.Lys573Asn) c.*843A>C (n.*843A>C) c.*1378A>C (n.*1378A>C) c.1931A>C (n.1931A>C) c.1551A>C (p.Lys517Asn) c.1599A>C (p.Lys533Asn) c.1695A>C (p.Lys565Asn) c.1641A>C (p.Lys547Asn) c.1602A>C (p.Lys534Asn) | |
18 | g.33739123A>G | CA503768563 | ASXL3 | c.1722A>G (p.Lys574=) c.1719A>G (p.Lys573=) c.*843A>G (n.*843A>G) c.*1378A>G (n.*1378A>G) c.1931A>G (n.1931A>G) c.1551A>G (p.Lys517=) c.1599A>G (p.Lys533=) c.1695A>G (p.Lys565=) c.1641A>G (p.Lys547=) c.1602A>G (p.Lys534=) | |
18 | g.33739123A>T | CA402176191 | ASXL3 | c.1722A>T (p.Lys574Asn) c.1719A>T (p.Lys573Asn) c.*843A>T (n.*843A>T) c.*1378A>T (n.*1378A>T) c.1931A>T (n.1931A>T) c.1551A>T (p.Lys517Asn) c.1599A>T (p.Lys533Asn) c.1695A>T (p.Lys565Asn) c.1641A>T (p.Lys547Asn) c.1602A>T (p.Lys534Asn) | |
18 | g.33739123_33739124insCCAAACACACCCAAC | CA2812055533 | ASXL3 | c.1722_1723insCCAAACACACCCAAC (p.Lys574_Thr575insProAsnThrProAsn) c.1719_1720insCCAAACACACCCAAC (p.Lys573_Thr574insProAsnThrProAsn) c.*843_*844insCCAAACACACCCAAC (n.*843_*844insCCAAACACACCCAAC) c.*1378_*1379insCCAAACACACCCAAC (n.*1378_*1379insCCAAACACACCCAAC) c.1931_1932insCCAAACACACCCAAC (n.1931_1932insCCAAACACACCCAAC) c.1551_1552insCCAAACACACCCAAC (p.Lys517_Thr518insProAsnThrProAsn) c.1599_1600insCCAAACACACCCAAC (p.Lys533_Thr534insProAsnThrProAsn) c.1695_1696insCCAAACACACCCAAC (p.Lys565_Thr566insProAsnThrProAsn) c.1641_1642insCCAAACACACCCAAC (p.Lys547_Thr548insProAsnThrProAsn) c.1602_1603insCCAAACACACCCAAC (p.Lys534_Thr535insProAsnThrProAsn) | |
18 | g.33739124A>C | CA402176192 | ASXL3 | c.1723A>C (p.Thr575Pro) c.1720A>C (p.Thr574Pro) c.*844A>C (n.*844A>C) c.*1379A>C (n.*1379A>C) c.1932A>C (n.1932A>C) c.1552A>C (p.Thr518Pro) c.1600A>C (p.Thr534Pro) c.1696A>C (p.Thr566Pro) c.1642A>C (p.Thr548Pro) c.1603A>C (p.Thr535Pro) | |
18 | g.33739124A>G | CA402176193 | ASXL3 | c.1723A>G (p.Thr575Ala) c.1720A>G (p.Thr574Ala) c.*844A>G (n.*844A>G) c.*1379A>G (n.*1379A>G) c.1932A>G (n.1932A>G) c.1552A>G (p.Thr518Ala) c.1600A>G (p.Thr534Ala) c.1696A>G (p.Thr566Ala) c.1642A>G (p.Thr548Ala) c.1603A>G (p.Thr535Ala) | |
18 | g.33739124A>T | CA402176194 | ASXL3 | c.1723A>T (p.Thr575Ser) c.1720A>T (p.Thr574Ser) c.*844A>T (n.*844A>T) c.*1379A>T (n.*1379A>T) c.1932A>T (n.1932A>T) c.1552A>T (p.Thr518Ser) c.1600A>T (p.Thr534Ser) c.1696A>T (p.Thr566Ser) c.1642A>T (p.Thr548Ser) c.1603A>T (p.Thr535Ser) | |
18 | g.33739126_33739127insCACCCAACACA | CA2812055532 | ASXL3 | c.1725_1726insCACCCAACACA (p.Gly576HisfsTer9) c.1722_1723insCACCCAACACA (p.Gly575HisfsTer9) c.*846_*847insCACCCAACACA (n.*846_*847insCACCCAACACA) c.*1381_*1382insCACCCAACACA (n.*1381_*1382insCACCCAACACA) c.1934_1935insCACCCAACACA (n.1934_1935insCACCCAACACA) c.1554_1555insCACCCAACACA (p.Gly519HisfsTer9) c.1602_1603insCACCCAACACA (p.Gly535HisfsTer9) c.1698_1699insCACCCAACACA (p.Gly567HisfsTer9) c.1644_1645insCACCCAACACA (p.Gly549HisfsTer9) c.1605_1606insCACCCAACACA (p.Gly536HisfsTer9) | |
18 | g.33739125C>A | CA402176195 | ASXL3 | c.1724C>A (p.Thr575Lys) c.1721C>A (p.Thr574Lys) c.*845C>A (n.*845C>A) c.*1380C>A (n.*1380C>A) c.1933C>A (n.1933C>A) c.1553C>A (p.Thr518Lys) c.1601C>A (p.Thr534Lys) c.1697C>A (p.Thr566Lys) c.1643C>A (p.Thr548Lys) c.1604C>A (p.Thr535Lys) | |
18 | g.33739125C>G | CA402176196 | ASXL3 | c.1724C>G (p.Thr575Arg) c.1721C>G (p.Thr574Arg) c.*845C>G (n.*845C>G) c.*1380C>G (n.*1380C>G) c.1933C>G (n.1933C>G) c.1553C>G (p.Thr518Arg) c.1601C>G (p.Thr534Arg) c.1697C>G (p.Thr566Arg) c.1643C>G (p.Thr548Arg) c.1604C>G (p.Thr535Arg) | |
18 | g.33739125C>T | CA402176197 | ASXL3 | c.1724C>T (p.Thr575Ile) c.1721C>T (p.Thr574Ile) c.*845C>T (n.*845C>T) c.*1380C>T (n.*1380C>T) c.1933C>T (n.1933C>T) c.1553C>T (p.Thr518Ile) c.1601C>T (p.Thr534Ile) c.1697C>T (p.Thr566Ile) c.1643C>T (p.Thr548Ile) c.1604C>T (p.Thr535Ile) | |
18 | g.33739126A>C | CA503768573 | ASXL3 | c.1725A>C (p.Thr575=) c.1722A>C (p.Thr574=) c.*846A>C (n.*846A>C) c.*1381A>C (n.*1381A>C) c.1934A>C (n.1934A>C) c.1554A>C (p.Thr518=) c.1602A>C (p.Thr534=) c.1698A>C (p.Thr566=) c.1644A>C (p.Thr548=) c.1605A>C (p.Thr535=) | |
18 | g.33739126A>G | CA503768572 | ASXL3 | c.1725A>G (p.Thr575=) c.1722A>G (p.Thr574=) c.*846A>G (n.*846A>G) c.*1381A>G (n.*1381A>G) c.1934A>G (n.1934A>G) c.1554A>G (p.Thr518=) c.1602A>G (p.Thr534=) c.1698A>G (p.Thr566=) c.1644A>G (p.Thr548=) c.1605A>G (p.Thr535=) | |
18 | g.33739126A>T | CA503768571 | ASXL3 | c.1725A>T (p.Thr575=) c.1722A>T (p.Thr574=) c.*846A>T (n.*846A>T) c.*1381A>T (n.*1381A>T) c.1934A>T (n.1934A>T) c.1554A>T (p.Thr518=) c.1602A>T (p.Thr534=) c.1698A>T (p.Thr566=) c.1644A>T (p.Thr548=) c.1605A>T (p.Thr535=) | |
18 | g.33739127G>A | CA8933801 | ASXL3 | c.1726G>A (p.Gly576Arg) c.1723G>A (p.Gly575Arg) c.*847G>A (n.*847G>A) c.*1382G>A (n.*1382G>A) c.1935G>A (n.1935G>A) c.1555G>A (p.Gly519Arg) c.1603G>A (p.Gly535Arg) c.1699G>A (p.Gly567Arg) c.1645G>A (p.Gly549Arg) c.1606G>A (p.Gly536Arg) | dbSNP ExAC gnomAD v2 |
18 | g.33739127G>C | CA402176199 | ASXL3 | c.1726G>C (p.Gly576Arg) c.1723G>C (p.Gly575Arg) c.*847G>C (n.*847G>C) c.*1382G>C (n.*1382G>C) c.1935G>C (n.1935G>C) c.1555G>C (p.Gly519Arg) c.1603G>C (p.Gly535Arg) c.1699G>C (p.Gly567Arg) c.1645G>C (p.Gly549Arg) c.1606G>C (p.Gly536Arg) | |
18 | g.33739127G= | CA2294855834 | ASXL3 | c.1726G= (p.Gly576=) c.1723G= (p.Gly575=) c.*847G= (n.*847G=) c.*1382G= (n.*1382G=) c.1935G= (n.1935G=) c.1555G= (p.Gly519=) c.1603G= (p.Gly535=) c.1699G= (p.Gly567=) c.1645G= (p.Gly549=) c.1606G= (p.Gly536=) | |
18 | g.33739127G>T | CA402176198 | ASXL3 | c.1726G>T (p.Gly576Trp) c.1723G>T (p.Gly575Trp) c.*847G>T (n.*847G>T) c.*1382G>T (n.*1382G>T) c.1935G>T (n.1935G>T) c.1555G>T (p.Gly519Trp) c.1603G>T (p.Gly535Trp) c.1699G>T (p.Gly567Trp) c.1645G>T (p.Gly549Trp) c.1606G>T (p.Gly536Trp) | gnomAD v4 |
18 | g.33739128G>A | CA402176201 | ASXL3 | c.1727G>A (p.Gly576Glu) c.1724G>A (p.Gly575Glu) c.*848G>A (n.*848G>A) c.*1383G>A (n.*1383G>A) c.1936G>A (n.1936G>A) c.1556G>A (p.Gly519Glu) c.1604G>A (p.Gly535Glu) c.1700G>A (p.Gly567Glu) c.1646G>A (p.Gly549Glu) c.1607G>A (p.Gly536Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739128G>C | CA402176200 | ASXL3 | c.1727G>C (p.Gly576Ala) c.1724G>C (p.Gly575Ala) c.*848G>C (n.*848G>C) c.*1383G>C (n.*1383G>C) c.1936G>C (n.1936G>C) c.1556G>C (p.Gly519Ala) c.1604G>C (p.Gly535Ala) c.1700G>C (p.Gly567Ala) c.1646G>C (p.Gly549Ala) c.1607G>C (p.Gly536Ala) | |
18 | g.33739128G= | CA2294855835 | ASXL3 | c.1727G= (p.Gly576=) c.1724G= (p.Gly575=) c.*848G= (n.*848G=) c.*1383G= (n.*1383G=) c.1936G= (n.1936G=) c.1556G= (p.Gly519=) c.1604G= (p.Gly535=) c.1700G= (p.Gly567=) c.1646G= (p.Gly549=) c.1607G= (p.Gly536=) | |
18 | g.33739128G>T | CA402176202 | ASXL3 | c.1727G>T (p.Gly576Val) c.1724G>T (p.Gly575Val) c.*848G>T (n.*848G>T) c.*1383G>T (n.*1383G>T) c.1936G>T (n.1936G>T) c.1556G>T (p.Gly519Val) c.1604G>T (p.Gly535Val) c.1700G>T (p.Gly567Val) c.1646G>T (p.Gly549Val) c.1607G>T (p.Gly536Val) | dbSNP gnomAD v4 |
18 | g.33739129G>A | CA503768574 | ASXL3 | c.1728G>A (p.Gly576=) c.1725G>A (p.Gly575=) c.*849G>A (n.*849G>A) c.*1384G>A (n.*1384G>A) c.1937G>A (n.1937G>A) c.1557G>A (p.Gly519=) c.1605G>A (p.Gly535=) c.1701G>A (p.Gly567=) c.1647G>A (p.Gly549=) c.1608G>A (p.Gly536=) | gnomAD v4 |
18 | g.33739129G>C | CA503768576 | ASXL3 | c.1728G>C (p.Gly576=) c.1725G>C (p.Gly575=) c.*849G>C (n.*849G>C) c.*1384G>C (n.*1384G>C) c.1937G>C (n.1937G>C) c.1557G>C (p.Gly519=) c.1605G>C (p.Gly535=) c.1701G>C (p.Gly567=) c.1647G>C (p.Gly549=) c.1608G>C (p.Gly536=) | |
18 | g.33739129G= | CA2294855836 | ASXL3 | c.1728G= (p.Gly576=) c.1725G= (p.Gly575=) c.*849G= (n.*849G=) c.*1384G= (n.*1384G=) c.1937G= (n.1937G=) c.1557G= (p.Gly519=) c.1605G= (p.Gly535=) c.1701G= (p.Gly567=) c.1647G= (p.Gly549=) c.1608G= (p.Gly536=) | |
18 | g.33739129G>T | CA8933802 | ASXL3 | c.1728G>T (p.Gly576=) c.1725G>T (p.Gly575=) c.*849G>T (n.*849G>T) c.*1384G>T (n.*1384G>T) c.1937G>T (n.1937G>T) c.1557G>T (p.Gly519=) c.1605G>T (p.Gly535=) c.1701G>T (p.Gly567=) c.1647G>T (p.Gly549=) c.1608G>T (p.Gly536=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739130T>A | CA402176204 | ASXL3 | c.1729T>A (p.Ser577Thr) c.1726T>A (p.Ser576Thr) c.*850T>A (n.*850T>A) c.*1385T>A (n.*1385T>A) c.1938T>A (n.1938T>A) c.1558T>A (p.Ser520Thr) c.1606T>A (p.Ser536Thr) c.1702T>A (p.Ser568Thr) c.1648T>A (p.Ser550Thr) c.1609T>A (p.Ser537Thr) | |
18 | g.33739130T>C | CA402176203 | ASXL3 | c.1729T>C (p.Ser577Pro) c.1726T>C (p.Ser576Pro) c.*850T>C (n.*850T>C) c.*1385T>C (n.*1385T>C) c.1938T>C (n.1938T>C) c.1558T>C (p.Ser520Pro) c.1606T>C (p.Ser536Pro) c.1702T>C (p.Ser568Pro) c.1648T>C (p.Ser550Pro) c.1609T>C (p.Ser537Pro) | |
18 | g.33739130T>G | CA8933803 | ASXL3 | c.1729T>G (p.Ser577Ala) c.1726T>G (p.Ser576Ala) c.*850T>G (n.*850T>G) c.*1385T>G (n.*1385T>G) c.1938T>G (n.1938T>G) c.1558T>G (p.Ser520Ala) c.1606T>G (p.Ser536Ala) c.1702T>G (p.Ser568Ala) c.1648T>G (p.Ser550Ala) c.1609T>G (p.Ser537Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739130T= | CA2294855837 | ASXL3 | c.1729T= (p.Ser577=) c.1726T= (p.Ser576=) c.*850T= (n.*850T=) c.*1385T= (n.*1385T=) c.1938T= (n.1938T=) c.1558T= (p.Ser520=) c.1606T= (p.Ser536=) c.1702T= (p.Ser568=) c.1648T= (p.Ser550=) c.1609T= (p.Ser537=) | |
18 | g.33739132_33739134del | CA2641457188 | ASXL3 | c.1731_1733del (p.Ser578del) c.1728_1730del (p.Ser577del) c.*852_*854del (n.*852_*854del) c.*1387_*1389del (n.*1387_*1389del) c.1940_1942del (n.1940_1942del) c.1560_1562del (p.Ser521del) c.1608_1610del (p.Ser537del) c.1704_1706del (p.Ser569del) c.1650_1652del (p.Ser551del) c.1611_1613del (p.Ser538del) | gnomAD v4 |
18 | g.33739131C>A | CA402176205 | ASXL3 | c.1730C>A (p.Ser577Ter) c.1727C>A (p.Ser576Ter) c.*851C>A (n.*851C>A) c.*1386C>A (n.*1386C>A) c.1939C>A (n.1939C>A) c.1559C>A (p.Ser520Ter) c.1607C>A (p.Ser536Ter) c.1703C>A (p.Ser568Ter) c.1649C>A (p.Ser550Ter) c.1610C>A (p.Ser537Ter) | COSMIC COSMIC |
18 | g.33739131C= | CA2294855838 | ASXL3 | c.1730C= (p.Ser577=) c.1727C= (p.Ser576=) c.*851C= (n.*851C=) c.*1386C= (n.*1386C=) c.1939C= (n.1939C=) c.1559C= (p.Ser520=) c.1607C= (p.Ser536=) c.1703C= (p.Ser568=) c.1649C= (p.Ser550=) c.1610C= (p.Ser537=) | |
18 | g.33739131C>G | CA402176206 | ASXL3 | c.1730C>G (p.Ser577Ter) c.1727C>G (p.Ser576Ter) c.*851C>G (n.*851C>G) c.*1386C>G (n.*1386C>G) c.1939C>G (n.1939C>G) c.1559C>G (p.Ser520Ter) c.1607C>G (p.Ser536Ter) c.1703C>G (p.Ser568Ter) c.1649C>G (p.Ser550Ter) c.1610C>G (p.Ser537Ter) | |
18 | g.33739131C>T | CA402176207 | ASXL3 | c.1730C>T (p.Ser577Leu) c.1727C>T (p.Ser576Leu) c.*851C>T (n.*851C>T) c.*1386C>T (n.*1386C>T) c.1939C>T (n.1939C>T) c.1559C>T (p.Ser520Leu) c.1607C>T (p.Ser536Leu) c.1703C>T (p.Ser568Leu) c.1649C>T (p.Ser550Leu) c.1610C>T (p.Ser537Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.33739132A>C | CA503768579 | ASXL3 | c.1731A>C (p.Ser577=) c.1728A>C (p.Ser576=) c.*852A>C (n.*852A>C) c.*1387A>C (n.*1387A>C) c.1940A>C (n.1940A>C) c.1560A>C (p.Ser520=) c.1608A>C (p.Ser536=) c.1704A>C (p.Ser568=) c.1650A>C (p.Ser550=) c.1611A>C (p.Ser537=) | |
18 | g.33739132A>G | CA503768580 | ASXL3 | c.1731A>G (p.Ser577=) c.1728A>G (p.Ser576=) c.*852A>G (n.*852A>G) c.*1387A>G (n.*1387A>G) c.1940A>G (n.1940A>G) c.1560A>G (p.Ser520=) c.1608A>G (p.Ser536=) c.1704A>G (p.Ser568=) c.1650A>G (p.Ser550=) c.1611A>G (p.Ser537=) | |
18 | g.33739132A>T | CA503768581 | ASXL3 | c.1731A>T (p.Ser577=) c.1728A>T (p.Ser576=) c.*852A>T (n.*852A>T) c.*1387A>T (n.*1387A>T) c.1940A>T (n.1940A>T) c.1560A>T (p.Ser520=) c.1608A>T (p.Ser536=) c.1704A>T (p.Ser568=) c.1650A>T (p.Ser550=) c.1611A>T (p.Ser537=) | |
18 | g.33739132_33739135delinsATCT | CA2294855839 | ASXL3 | c.1731_1734delinsATCT (p.Ser577=) c.1728_1731delinsATCT (p.Ser576=) c.*852_*855delinsATCT (n.*852_*855delinsATCT) c.*1387_*1390delinsATCT (n.*1387_*1390delinsATCT) c.1940_1943delinsATCT (n.1940_1943delinsATCT) c.1560_1563delinsATCT (p.Ser520=) c.1608_1611delinsATCT (p.Ser536=) c.1704_1707delinsATCT (p.Ser568=) c.1650_1653delinsATCT (p.Ser550=) c.1611_1614delinsATCT (p.Ser537=) | |
18 | g.33739133T>A | CA402176208 | ASXL3 | c.1732T>A (p.Ser578Thr) c.1729T>A (p.Ser577Thr) c.*853T>A (n.*853T>A) c.*1388T>A (n.*1388T>A) c.1941T>A (n.1941T>A) c.1561T>A (p.Ser521Thr) c.1609T>A (p.Ser537Thr) c.1705T>A (p.Ser569Thr) c.1651T>A (p.Ser551Thr) c.1612T>A (p.Ser538Thr) | |
18 | g.33739133T>C | CA402176209 | ASXL3 | c.1732T>C (p.Ser578Pro) c.1729T>C (p.Ser577Pro) c.*853T>C (n.*853T>C) c.*1388T>C (n.*1388T>C) c.1941T>C (n.1941T>C) c.1561T>C (p.Ser521Pro) c.1609T>C (p.Ser537Pro) c.1705T>C (p.Ser569Pro) c.1651T>C (p.Ser551Pro) c.1612T>C (p.Ser538Pro) | |
18 | g.33739133T>G | CA402176210 | ASXL3 | c.1732T>G (p.Ser578Ala) c.1729T>G (p.Ser577Ala) c.*853T>G (n.*853T>G) c.*1388T>G (n.*1388T>G) c.1941T>G (n.1941T>G) c.1561T>G (p.Ser521Ala) c.1609T>G (p.Ser537Ala) c.1705T>G (p.Ser569Ala) c.1651T>G (p.Ser551Ala) c.1612T>G (p.Ser538Ala) | |
18 | g.33739136_33739138del | CA8933804 | ASXL3 | c.1735_1737del (p.Ser579del) c.1732_1734del (p.Ser578del) c.*856_*858del (n.*856_*858del) c.*1391_*1393del (n.*1391_*1393del) c.1944_1946del (n.1944_1946del) c.1564_1566del (p.Ser522del) c.1612_1614del (p.Ser538del) c.1708_1710del (p.Ser570del) c.1654_1656del (p.Ser552del) c.1615_1617del (p.Ser539del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739134C>A | CA402176211 | ASXL3 | c.1733C>A (p.Ser578Tyr) c.1730C>A (p.Ser577Tyr) c.*854C>A (n.*854C>A) c.*1389C>A (n.*1389C>A) c.1942C>A (n.1942C>A) c.1562C>A (p.Ser521Tyr) c.1610C>A (p.Ser537Tyr) c.1706C>A (p.Ser569Tyr) c.1652C>A (p.Ser551Tyr) c.1613C>A (p.Ser538Tyr) | |
18 | g.33739134C= | CA2294855840 | ASXL3 | c.1733C= (p.Ser578=) c.1730C= (p.Ser577=) c.*854C= (n.*854C=) c.*1389C= (n.*1389C=) c.1942C= (n.1942C=) c.1562C= (p.Ser521=) c.1610C= (p.Ser537=) c.1706C= (p.Ser569=) c.1652C= (p.Ser551=) c.1613C= (p.Ser538=) | |
18 | g.33739134C>G | CA8933806 | ASXL3 | c.1733C>G (p.Ser578Cys) c.1730C>G (p.Ser577Cys) c.*854C>G (n.*854C>G) c.*1389C>G (n.*1389C>G) c.1942C>G (n.1942C>G) c.1562C>G (p.Ser521Cys) c.1610C>G (p.Ser537Cys) c.1706C>G (p.Ser569Cys) c.1652C>G (p.Ser551Cys) c.1613C>G (p.Ser538Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739134C>T | CA8933805 | ASXL3 | c.1733C>T (p.Ser578Phe) c.1730C>T (p.Ser577Phe) c.*854C>T (n.*854C>T) c.*1389C>T (n.*1389C>T) c.1942C>T (n.1942C>T) c.1562C>T (p.Ser521Phe) c.1610C>T (p.Ser537Phe) c.1706C>T (p.Ser569Phe) c.1652C>T (p.Ser551Phe) c.1613C>T (p.Ser538Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739135T>A | CA503768585 | ASXL3 | c.1734T>A (p.Ser578=) c.1731T>A (p.Ser577=) c.*855T>A (n.*855T>A) c.*1390T>A (n.*1390T>A) c.1943T>A (n.1943T>A) c.1563T>A (p.Ser521=) c.1611T>A (p.Ser537=) c.1707T>A (p.Ser569=) c.1653T>A (p.Ser551=) c.1614T>A (p.Ser538=) | |
18 | g.33739135T>C | CA503768586 | ASXL3 | c.1734T>C (p.Ser578=) c.1731T>C (p.Ser577=) c.*855T>C (n.*855T>C) c.*1390T>C (n.*1390T>C) c.1943T>C (n.1943T>C) c.1563T>C (p.Ser521=) c.1611T>C (p.Ser537=) c.1707T>C (p.Ser569=) c.1653T>C (p.Ser551=) c.1614T>C (p.Ser538=) | |
18 | g.33739135T>G | CA503768588 | ASXL3 | c.1734T>G (p.Ser578=) c.1731T>G (p.Ser577=) c.*855T>G (n.*855T>G) c.*1390T>G (n.*1390T>G) c.1943T>G (n.1943T>G) c.1563T>G (p.Ser521=) c.1611T>G (p.Ser537=) c.1707T>G (p.Ser569=) c.1653T>G (p.Ser551=) c.1614T>G (p.Ser538=) | |
18 | g.33739136T>A | CA402176214 | ASXL3 | c.1735T>A (p.Ser579Thr) c.1732T>A (p.Ser578Thr) c.*856T>A (n.*856T>A) c.*1391T>A (n.*1391T>A) c.1944T>A (n.1944T>A) c.1564T>A (p.Ser522Thr) c.1612T>A (p.Ser538Thr) c.1708T>A (p.Ser570Thr) c.1654T>A (p.Ser552Thr) c.1615T>A (p.Ser539Thr) | |
18 | g.33739136T>C | CA402176212 | ASXL3 | c.1735T>C (p.Ser579Pro) c.1732T>C (p.Ser578Pro) c.*856T>C (n.*856T>C) c.*1391T>C (n.*1391T>C) c.1944T>C (n.1944T>C) c.1564T>C (p.Ser522Pro) c.1612T>C (p.Ser538Pro) c.1708T>C (p.Ser570Pro) c.1654T>C (p.Ser552Pro) c.1615T>C (p.Ser539Pro) | gnomAD v4 |
18 | g.33739136T>G | CA402176213 | ASXL3 | c.1735T>G (p.Ser579Ala) c.1732T>G (p.Ser578Ala) c.*856T>G (n.*856T>G) c.*1391T>G (n.*1391T>G) c.1944T>G (n.1944T>G) c.1564T>G (p.Ser522Ala) c.1612T>G (p.Ser538Ala) c.1708T>G (p.Ser570Ala) c.1654T>G (p.Ser552Ala) c.1615T>G (p.Ser539Ala) | |
18 | g.33739137C>A | CA402176215 | ASXL3 | c.1736C>A (p.Ser579Tyr) c.1733C>A (p.Ser578Tyr) c.*857C>A (n.*857C>A) c.*1392C>A (n.*1392C>A) c.1945C>A (n.1945C>A) c.1565C>A (p.Ser522Tyr) c.1613C>A (p.Ser538Tyr) c.1709C>A (p.Ser570Tyr) c.1655C>A (p.Ser552Tyr) c.1616C>A (p.Ser539Tyr) | |
18 | g.33739137C= | CA2294855841 | ASXL3 | c.1736C= (p.Ser579=) c.1733C= (p.Ser578=) c.*857C= (n.*857C=) c.*1392C= (n.*1392C=) c.1945C= (n.1945C=) c.1565C= (p.Ser522=) c.1613C= (p.Ser538=) c.1709C= (p.Ser570=) c.1655C= (p.Ser552=) c.1616C= (p.Ser539=) | |
18 | g.33739137C>G | CA402176216 | ASXL3 | c.1736C>G (p.Ser579Cys) c.1733C>G (p.Ser578Cys) c.*857C>G (n.*857C>G) c.*1392C>G (n.*1392C>G) c.1945C>G (n.1945C>G) c.1565C>G (p.Ser522Cys) c.1613C>G (p.Ser538Cys) c.1709C>G (p.Ser570Cys) c.1655C>G (p.Ser552Cys) c.1616C>G (p.Ser539Cys) | |
18 | g.33739137C>T | CA8933807 | ASXL3 | c.1736C>T (p.Ser579Phe) c.1733C>T (p.Ser578Phe) c.*857C>T (n.*857C>T) c.*1392C>T (n.*1392C>T) c.1945C>T (n.1945C>T) c.1565C>T (p.Ser522Phe) c.1613C>T (p.Ser538Phe) c.1709C>T (p.Ser570Phe) c.1655C>T (p.Ser552Phe) c.1616C>T (p.Ser539Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739138T>A | CA503768593 | ASXL3 | c.1737T>A (p.Ser579=) c.1734T>A (p.Ser578=) c.*858T>A (n.*858T>A) c.*1393T>A (n.*1393T>A) c.1946T>A (n.1946T>A) c.1566T>A (p.Ser522=) c.1614T>A (p.Ser538=) c.1710T>A (p.Ser570=) c.1656T>A (p.Ser552=) c.1617T>A (p.Ser539=) | |
18 | g.33739138T>C | CA503768594 | ASXL3 | c.1737T>C (p.Ser579=) c.1734T>C (p.Ser578=) c.*858T>C (n.*858T>C) c.*1393T>C (n.*1393T>C) c.1946T>C (n.1946T>C) c.1566T>C (p.Ser522=) c.1614T>C (p.Ser538=) c.1710T>C (p.Ser570=) c.1656T>C (p.Ser552=) c.1617T>C (p.Ser539=) | |
18 | g.33739138T>G | CA503768596 | ASXL3 | c.1737T>G (p.Ser579=) c.1734T>G (p.Ser578=) c.*858T>G (n.*858T>G) c.*1393T>G (n.*1393T>G) c.1946T>G (n.1946T>G) c.1566T>G (p.Ser522=) c.1614T>G (p.Ser538=) c.1710T>G (p.Ser570=) c.1656T>G (p.Ser552=) c.1617T>G (p.Ser539=) | |
18 | g.33739139C>A | CA402176217 | ASXL3 | c.1738C>A (p.Leu580Ile) c.1735C>A (p.Leu579Ile) c.*859C>A (n.*859C>A) c.*1394C>A (n.*1394C>A) c.1947C>A (n.1947C>A) c.1567C>A (p.Leu523Ile) c.1615C>A (p.Leu539Ile) c.1711C>A (p.Leu571Ile) c.1657C>A (p.Leu553Ile) c.1618C>A (p.Leu540Ile) | |
18 | g.33739139C>G | CA402176218 | ASXL3 | c.1738C>G (p.Leu580Val) c.1735C>G (p.Leu579Val) c.*859C>G (n.*859C>G) c.*1394C>G (n.*1394C>G) c.1947C>G (n.1947C>G) c.1567C>G (p.Leu523Val) c.1615C>G (p.Leu539Val) c.1711C>G (p.Leu571Val) c.1657C>G (p.Leu553Val) c.1618C>G (p.Leu540Val) | |
18 | g.33739139C>T | CA503768600 | ASXL3 | c.1738C>T (p.Leu580=) c.1735C>T (p.Leu579=) c.*859C>T (n.*859C>T) c.*1394C>T (n.*1394C>T) c.1947C>T (n.1947C>T) c.1567C>T (p.Leu523=) c.1615C>T (p.Leu539=) c.1711C>T (p.Leu571=) c.1657C>T (p.Leu553=) c.1618C>T (p.Leu540=) | |
18 | g.33739140T>A | CA402176219 | ASXL3 | c.1739T>A (p.Leu580Gln) c.1736T>A (p.Leu579Gln) c.*860T>A (n.*860T>A) c.*1395T>A (n.*1395T>A) c.1948T>A (n.1948T>A) c.1568T>A (p.Leu523Gln) c.1616T>A (p.Leu539Gln) c.1712T>A (p.Leu571Gln) c.1658T>A (p.Leu553Gln) c.1619T>A (p.Leu540Gln) | |
18 | g.33739140T>C | CA402176220 | ASXL3 | c.1739T>C (p.Leu580Pro) c.1736T>C (p.Leu579Pro) c.*860T>C (n.*860T>C) c.*1395T>C (n.*1395T>C) c.1948T>C (n.1948T>C) c.1568T>C (p.Leu523Pro) c.1616T>C (p.Leu539Pro) c.1712T>C (p.Leu571Pro) c.1658T>C (p.Leu553Pro) c.1619T>C (p.Leu540Pro) | |
18 | g.33739140T>G | CA402176221 | ASXL3 | c.1739T>G (p.Leu580Arg) c.1736T>G (p.Leu579Arg) c.*860T>G (n.*860T>G) c.*1395T>G (n.*1395T>G) c.1948T>G (n.1948T>G) c.1568T>G (p.Leu523Arg) c.1616T>G (p.Leu539Arg) c.1712T>G (p.Leu571Arg) c.1658T>G (p.Leu553Arg) c.1619T>G (p.Leu540Arg) | |
18 | g.33739141A>C | CA503768601 | ASXL3 | c.1740A>C (p.Leu580=) c.1737A>C (p.Leu579=) c.*861A>C (n.*861A>C) c.*1396A>C (n.*1396A>C) c.1949A>C (n.1949A>C) c.1569A>C (p.Leu523=) c.1617A>C (p.Leu539=) c.1713A>C (p.Leu571=) c.1659A>C (p.Leu553=) c.1620A>C (p.Leu540=) | |
18 | g.33739141A>G | CA503768602 | ASXL3 | c.1740A>G (p.Leu580=) c.1737A>G (p.Leu579=) c.*861A>G (n.*861A>G) c.*1396A>G (n.*1396A>G) c.1949A>G (n.1949A>G) c.1569A>G (p.Leu523=) c.1617A>G (p.Leu539=) c.1713A>G (p.Leu571=) c.1659A>G (p.Leu553=) c.1620A>G (p.Leu540=) | |
18 | g.33739141A>T | CA503768603 | ASXL3 | c.1740A>T (p.Leu580=) c.1737A>T (p.Leu579=) c.*861A>T (n.*861A>T) c.*1396A>T (n.*1396A>T) c.1949A>T (n.1949A>T) c.1569A>T (p.Leu523=) c.1617A>T (p.Leu539=) c.1713A>T (p.Leu571=) c.1659A>T (p.Leu553=) c.1620A>T (p.Leu540=) | |
18 | g.33739142G>A | CA402176222 | ASXL3 | c.1741G>A (p.Glu581Lys) c.1738G>A (p.Glu580Lys) c.*862G>A (n.*862G>A) c.*1397G>A (n.*1397G>A) c.1950G>A (n.1950G>A) c.1570G>A (p.Glu524Lys) c.1618G>A (p.Glu540Lys) c.1714G>A (p.Glu572Lys) c.1660G>A (p.Glu554Lys) c.1621G>A (p.Glu541Lys) | |
18 | g.33739142G>C | CA402176223 | ASXL3 | c.1741G>C (p.Glu581Gln) c.1738G>C (p.Glu580Gln) c.*862G>C (n.*862G>C) c.*1397G>C (n.*1397G>C) c.1950G>C (n.1950G>C) c.1570G>C (p.Glu524Gln) c.1618G>C (p.Glu540Gln) c.1714G>C (p.Glu572Gln) c.1660G>C (p.Glu554Gln) c.1621G>C (p.Glu541Gln) | gnomAD v4 |
18 | g.33739142G= | CA2294855842 | ASXL3 | c.1741G= (p.Glu581=) c.1738G= (p.Glu580=) c.*862G= (n.*862G=) c.*1397G= (n.*1397G=) c.1950G= (n.1950G=) c.1570G= (p.Glu524=) c.1618G= (p.Glu540=) c.1714G= (p.Glu572=) c.1660G= (p.Glu554=) c.1621G= (p.Glu541=) | |
18 | g.33739142G>T | CA402176224 | ASXL3 | c.1741G>T (p.Glu581Ter) c.1738G>T (p.Glu580Ter) c.*862G>T (n.*862G>T) c.*1397G>T (n.*1397G>T) c.1950G>T (n.1950G>T) c.1570G>T (p.Glu524Ter) c.1618G>T (p.Glu540Ter) c.1714G>T (p.Glu572Ter) c.1660G>T (p.Glu554Ter) c.1621G>T (p.Glu541Ter) | ClinVar dbSNP |
18 | g.33739143A= | CA2294855843 | ASXL3 | c.1742A= (p.Glu581=) c.1739A= (p.Glu580=) c.*863A= (n.*863A=) c.*1398A= (n.*1398A=) c.1951A= (n.1951A=) c.1571A= (p.Glu524=) c.1619A= (p.Glu540=) c.1715A= (p.Glu572=) c.1661A= (p.Glu554=) c.1622A= (p.Glu541=) | |
18 | g.33739143A>C | CA402176226 | ASXL3 | c.1742A>C (p.Glu581Ala) c.1739A>C (p.Glu580Ala) c.*863A>C (n.*863A>C) c.*1398A>C (n.*1398A>C) c.1951A>C (n.1951A>C) c.1571A>C (p.Glu524Ala) c.1619A>C (p.Glu540Ala) c.1715A>C (p.Glu572Ala) c.1661A>C (p.Glu554Ala) c.1622A>C (p.Glu541Ala) | |
18 | g.33739143A>G | CA402176227 | ASXL3 | c.1742A>G (p.Glu581Gly) c.1739A>G (p.Glu580Gly) c.*863A>G (n.*863A>G) c.*1398A>G (n.*1398A>G) c.1951A>G (n.1951A>G) c.1571A>G (p.Glu524Gly) c.1619A>G (p.Glu540Gly) c.1715A>G (p.Glu572Gly) c.1661A>G (p.Glu554Gly) c.1622A>G (p.Glu541Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739143A>T | CA402176225 | ASXL3 | c.1742A>T (p.Glu581Val) c.1739A>T (p.Glu580Val) c.*863A>T (n.*863A>T) c.*1398A>T (n.*1398A>T) c.1951A>T (n.1951A>T) c.1571A>T (p.Glu524Val) c.1619A>T (p.Glu540Val) c.1715A>T (p.Glu572Val) c.1661A>T (p.Glu554Val) c.1622A>T (p.Glu541Val) | |
18 | g.33739144A>C | CA402176228 | ASXL3 | c.1743A>C (p.Glu581Asp) c.1740A>C (p.Glu580Asp) c.*864A>C (n.*864A>C) c.*1399A>C (n.*1399A>C) c.1952A>C (n.1952A>C) c.1572A>C (p.Glu524Asp) c.1620A>C (p.Glu540Asp) c.1716A>C (p.Glu572Asp) c.1662A>C (p.Glu554Asp) c.1623A>C (p.Glu541Asp) | |
18 | g.33739144A>G | CA503768607 | ASXL3 | c.1743A>G (p.Glu581=) c.1740A>G (p.Glu580=) c.*864A>G (n.*864A>G) c.*1399A>G (n.*1399A>G) c.1952A>G (n.1952A>G) c.1572A>G (p.Glu524=) c.1620A>G (p.Glu540=) c.1716A>G (p.Glu572=) c.1662A>G (p.Glu554=) c.1623A>G (p.Glu541=) | |
18 | g.33739144A>T | CA402176229 | ASXL3 | c.1743A>T (p.Glu581Asp) c.1740A>T (p.Glu580Asp) c.*864A>T (n.*864A>T) c.*1399A>T (n.*1399A>T) c.1952A>T (n.1952A>T) c.1572A>T (p.Glu524Asp) c.1620A>T (p.Glu540Asp) c.1716A>T (p.Glu572Asp) c.1662A>T (p.Glu554Asp) c.1623A>T (p.Glu541Asp) | |
18 | g.33739145G>A | CA402176230 | ASXL3 | c.1744G>A (p.Gly582Ser) c.1741G>A (p.Gly581Ser) c.*865G>A (n.*865G>A) c.*1400G>A (n.*1400G>A) c.1953G>A (n.1953G>A) c.1573G>A (p.Gly525Ser) c.1621G>A (p.Gly541Ser) c.1717G>A (p.Gly573Ser) c.1663G>A (p.Gly555Ser) c.1624G>A (p.Gly542Ser) | gnomAD v4 COSMIC COSMIC |
18 | g.33739145G>C | CA402176231 | ASXL3 | c.1744G>C (p.Gly582Arg) c.1741G>C (p.Gly581Arg) c.*865G>C (n.*865G>C) c.*1400G>C (n.*1400G>C) c.1953G>C (n.1953G>C) c.1573G>C (p.Gly525Arg) c.1621G>C (p.Gly541Arg) c.1717G>C (p.Gly573Arg) c.1663G>C (p.Gly555Arg) c.1624G>C (p.Gly542Arg) | |
18 | g.33739145G>T | CA402176232 | ASXL3 | c.1744G>T (p.Gly582Cys) c.1741G>T (p.Gly581Cys) c.*865G>T (n.*865G>T) c.*1400G>T (n.*1400G>T) c.1953G>T (n.1953G>T) c.1573G>T (p.Gly525Cys) c.1621G>T (p.Gly541Cys) c.1717G>T (p.Gly573Cys) c.1663G>T (p.Gly555Cys) c.1624G>T (p.Gly542Cys) | |
18 | g.33739146G>A | CA297787002 | ASXL3 | c.1745G>A (p.Gly582Asp) c.1742G>A (p.Gly581Asp) c.*866G>A (n.*866G>A) c.*1401G>A (n.*1401G>A) c.1954G>A (n.1954G>A) c.1574G>A (p.Gly525Asp) c.1622G>A (p.Gly541Asp) c.1718G>A (p.Gly573Asp) c.1664G>A (p.Gly555Asp) c.1625G>A (p.Gly542Asp) | dbSNP |
18 | g.33739146G>C | CA402176234 | ASXL3 | c.1745G>C (p.Gly582Ala) c.1742G>C (p.Gly581Ala) c.*866G>C (n.*866G>C) c.*1401G>C (n.*1401G>C) c.1954G>C (n.1954G>C) c.1574G>C (p.Gly525Ala) c.1622G>C (p.Gly541Ala) c.1718G>C (p.Gly573Ala) c.1664G>C (p.Gly555Ala) c.1625G>C (p.Gly542Ala) | |
18 | g.33739146G= | CA2294855844 | ASXL3 | c.1745G= (p.Gly582=) c.1742G= (p.Gly581=) c.*866G= (n.*866G=) c.*1401G= (n.*1401G=) c.1954G= (n.1954G=) c.1574G= (p.Gly525=) c.1622G= (p.Gly541=) c.1718G= (p.Gly573=) c.1664G= (p.Gly555=) c.1625G= (p.Gly542=) | |
18 | g.33739146G>T | CA402176233 | ASXL3 | c.1745G>T (p.Gly582Val) c.1742G>T (p.Gly581Val) c.*866G>T (n.*866G>T) c.*1401G>T (n.*1401G>T) c.1954G>T (n.1954G>T) c.1574G>T (p.Gly525Val) c.1622G>T (p.Gly541Val) c.1718G>T (p.Gly573Val) c.1664G>T (p.Gly555Val) c.1625G>T (p.Gly542Val) | |
18 | g.33739147C>A | CA503768611 | ASXL3 | c.1746C>A (p.Gly582=) c.1743C>A (p.Gly581=) c.*867C>A (n.*867C>A) c.*1402C>A (n.*1402C>A) c.1955C>A (n.1955C>A) c.1575C>A (p.Gly525=) c.1623C>A (p.Gly541=) c.1719C>A (p.Gly573=) c.1665C>A (p.Gly555=) c.1626C>A (p.Gly542=) | |
18 | g.33739147C>G | CA503768612 | ASXL3 | c.1746C>G (p.Gly582=) c.1743C>G (p.Gly581=) c.*867C>G (n.*867C>G) c.*1402C>G (n.*1402C>G) c.1955C>G (n.1955C>G) c.1575C>G (p.Gly525=) c.1623C>G (p.Gly541=) c.1719C>G (p.Gly573=) c.1665C>G (p.Gly555=) c.1626C>G (p.Gly542=) | |
18 | g.33739147C>T | CA503768610 | ASXL3 | c.1746C>T (p.Gly582=) c.1743C>T (p.Gly581=) c.*867C>T (n.*867C>T) c.*1402C>T (n.*1402C>T) c.1955C>T (n.1955C>T) c.1575C>T (p.Gly525=) c.1623C>T (p.Gly541=) c.1719C>T (p.Gly573=) c.1665C>T (p.Gly555=) c.1626C>T (p.Gly542=) | dbSNP gnomAD v4 |
18 | g.33739148C>A | CA402176235 | ASXL3 | c.1747C>A (p.Gln583Lys) c.1744C>A (p.Gln582Lys) c.*868C>A (n.*868C>A) c.*1403C>A (n.*1403C>A) c.1956C>A (n.1956C>A) c.1576C>A (p.Gln526Lys) c.1624C>A (p.Gln542Lys) c.1720C>A (p.Gln574Lys) c.1666C>A (p.Gln556Lys) c.1627C>A (p.Gln543Lys) | dbSNP |
18 | g.33739148C= | CA2294855845 | ASXL3 | c.1747C= (p.Gln583=) c.1744C= (p.Gln582=) c.*868C= (n.*868C=) c.*1403C= (n.*1403C=) c.1956C= (n.1956C=) c.1576C= (p.Gln526=) c.1624C= (p.Gln542=) c.1720C= (p.Gln574=) c.1666C= (p.Gln556=) c.1627C= (p.Gln543=) | |
18 | g.33739148C>G | CA402176236 | ASXL3 | c.1747C>G (p.Gln583Glu) c.1744C>G (p.Gln582Glu) c.*868C>G (n.*868C>G) c.*1403C>G (n.*1403C>G) c.1956C>G (n.1956C>G) c.1576C>G (p.Gln526Glu) c.1624C>G (p.Gln542Glu) c.1720C>G (p.Gln574Glu) c.1666C>G (p.Gln556Glu) c.1627C>G (p.Gln543Glu) | gnomAD v4 |
18 | g.33739148C>T | CA402176237 | ASXL3 | c.1747C>T (p.Gln583Ter) c.1744C>T (p.Gln582Ter) c.*868C>T (n.*868C>T) c.*1403C>T (n.*1403C>T) c.1956C>T (n.1956C>T) c.1576C>T (p.Gln526Ter) c.1624C>T (p.Gln542Ter) c.1720C>T (p.Gln574Ter) c.1666C>T (p.Gln556Ter) c.1627C>T (p.Gln543Ter) | ClinVar |
18 | g.33739149A>C | CA402176238 | ASXL3 | c.1748A>C (p.Gln583Pro) c.1745A>C (p.Gln582Pro) c.*869A>C (n.*869A>C) c.*1404A>C (n.*1404A>C) c.1957A>C (n.1957A>C) c.1577A>C (p.Gln526Pro) c.1625A>C (p.Gln542Pro) c.1721A>C (p.Gln574Pro) c.1667A>C (p.Gln556Pro) c.1628A>C (p.Gln543Pro) | |
18 | g.33739149A>G | CA402176239 | ASXL3 | c.1748A>G (p.Gln583Arg) c.1745A>G (p.Gln582Arg) c.*869A>G (n.*869A>G) c.*1404A>G (n.*1404A>G) c.1957A>G (n.1957A>G) c.1577A>G (p.Gln526Arg) c.1625A>G (p.Gln542Arg) c.1721A>G (p.Gln574Arg) c.1667A>G (p.Gln556Arg) c.1628A>G (p.Gln543Arg) | |
18 | g.33739149A>T | CA402176240 | ASXL3 | c.1748A>T (p.Gln583Leu) c.1745A>T (p.Gln582Leu) c.*869A>T (n.*869A>T) c.*1404A>T (n.*1404A>T) c.1957A>T (n.1957A>T) c.1577A>T (p.Gln526Leu) c.1625A>T (p.Gln542Leu) c.1721A>T (p.Gln574Leu) c.1667A>T (p.Gln556Leu) c.1628A>T (p.Gln543Leu) | |
18 | g.33739150G>A | CA8933808 | ASXL3 | c.1749G>A (p.Gln583=) c.1746G>A (p.Gln582=) c.*870G>A (n.*870G>A) c.*1405G>A (n.*1405G>A) c.1958G>A (n.1958G>A) c.1578G>A (p.Gln526=) c.1626G>A (p.Gln542=) c.1722G>A (p.Gln574=) c.1668G>A (p.Gln556=) c.1629G>A (p.Gln543=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739150G>C | CA402176242 | ASXL3 | c.1749G>C (p.Gln583His) c.1746G>C (p.Gln582His) c.*870G>C (n.*870G>C) c.*1405G>C (n.*1405G>C) c.1958G>C (n.1958G>C) c.1578G>C (p.Gln526His) c.1626G>C (p.Gln542His) c.1722G>C (p.Gln574His) c.1668G>C (p.Gln556His) c.1629G>C (p.Gln543His) | |
18 | g.33739150G= | CA2294855846 | ASXL3 | c.1749G= (p.Gln583=) c.1746G= (p.Gln582=) c.*870G= (n.*870G=) c.*1405G= (n.*1405G=) c.1958G= (n.1958G=) c.1578G= (p.Gln526=) c.1626G= (p.Gln542=) c.1722G= (p.Gln574=) c.1668G= (p.Gln556=) c.1629G= (p.Gln543=) | |
18 | g.33739150G>T | CA402176241 | ASXL3 | c.1749G>T (p.Gln583His) c.1746G>T (p.Gln582His) c.*870G>T (n.*870G>T) c.*1405G>T (n.*1405G>T) c.1958G>T (n.1958G>T) c.1578G>T (p.Gln526His) c.1626G>T (p.Gln542His) c.1722G>T (p.Gln574His) c.1668G>T (p.Gln556His) c.1629G>T (p.Gln543His) | |
18 | g.33739151T>A | CA402176243 | ASXL3 | c.1750T>A (p.Phe584Ile) c.1747T>A (p.Phe583Ile) c.*871T>A (n.*871T>A) c.*1406T>A (n.*1406T>A) c.1959T>A (n.1959T>A) c.1579T>A (p.Phe527Ile) c.1627T>A (p.Phe543Ile) c.1723T>A (p.Phe575Ile) c.1669T>A (p.Phe557Ile) c.1630T>A (p.Phe544Ile) | gnomAD v4 |
18 | g.33739151T>C | CA8933809 | ASXL3 | c.1750T>C (p.Phe584Leu) c.1747T>C (p.Phe583Leu) c.*871T>C (n.*871T>C) c.*1406T>C (n.*1406T>C) c.1959T>C (n.1959T>C) c.1579T>C (p.Phe527Leu) c.1627T>C (p.Phe543Leu) c.1723T>C (p.Phe575Leu) c.1669T>C (p.Phe557Leu) c.1630T>C (p.Phe544Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739151T>G | CA402176244 | ASXL3 | c.1750T>G (p.Phe584Val) c.1747T>G (p.Phe583Val) c.*871T>G (n.*871T>G) c.*1406T>G (n.*1406T>G) c.1959T>G (n.1959T>G) c.1579T>G (p.Phe527Val) c.1627T>G (p.Phe543Val) c.1723T>G (p.Phe575Val) c.1669T>G (p.Phe557Val) c.1630T>G (p.Phe544Val) | |
18 | g.33739151T= | CA2294855847 | ASXL3 | c.1750T= (p.Phe584=) c.1747T= (p.Phe583=) c.*871T= (n.*871T=) c.*1406T= (n.*1406T=) c.1959T= (n.1959T=) c.1579T= (p.Phe527=) c.1627T= (p.Phe543=) c.1723T= (p.Phe575=) c.1669T= (p.Phe557=) c.1630T= (p.Phe544=) | |
18 | g.33739152T>A | CA402176245 | ASXL3 | c.1751T>A (p.Phe584Tyr) c.1748T>A (p.Phe583Tyr) c.*872T>A (n.*872T>A) c.*1407T>A (n.*1407T>A) c.1960T>A (n.1960T>A) c.1580T>A (p.Phe527Tyr) c.1628T>A (p.Phe543Tyr) c.1724T>A (p.Phe575Tyr) c.1670T>A (p.Phe557Tyr) c.1631T>A (p.Phe544Tyr) | |
18 | g.33739152T>C | CA402176246 | ASXL3 | c.1751T>C (p.Phe584Ser) c.1748T>C (p.Phe583Ser) c.*872T>C (n.*872T>C) c.*1407T>C (n.*1407T>C) c.1960T>C (n.1960T>C) c.1580T>C (p.Phe527Ser) c.1628T>C (p.Phe543Ser) c.1724T>C (p.Phe575Ser) c.1670T>C (p.Phe557Ser) c.1631T>C (p.Phe544Ser) | |
18 | g.33739152T>G | CA402176247 | ASXL3 | c.1751T>G (p.Phe584Cys) c.1748T>G (p.Phe583Cys) c.*872T>G (n.*872T>G) c.*1407T>G (n.*1407T>G) c.1960T>G (n.1960T>G) c.1580T>G (p.Phe527Cys) c.1628T>G (p.Phe543Cys) c.1724T>G (p.Phe575Cys) c.1670T>G (p.Phe557Cys) c.1631T>G (p.Phe544Cys) | |
18 | g.33739153T>A | CA402176248 | ASXL3 | c.1752T>A (p.Phe584Leu) c.1749T>A (p.Phe583Leu) c.*873T>A (n.*873T>A) c.*1408T>A (n.*1408T>A) c.1961T>A (n.1961T>A) c.1581T>A (p.Phe527Leu) c.1629T>A (p.Phe543Leu) c.1725T>A (p.Phe575Leu) c.1671T>A (p.Phe557Leu) c.1632T>A (p.Phe544Leu) | |
18 | g.33739153T>C | CA503768622 | ASXL3 | c.1752T>C (p.Phe584=) c.1749T>C (p.Phe583=) c.*873T>C (n.*873T>C) c.*1408T>C (n.*1408T>C) c.1961T>C (n.1961T>C) c.1581T>C (p.Phe527=) c.1629T>C (p.Phe543=) c.1725T>C (p.Phe575=) c.1671T>C (p.Phe557=) c.1632T>C (p.Phe544=) | dbSNP gnomAD v4 |
18 | g.33739153T>G | CA402176249 | ASXL3 | c.1752T>G (p.Phe584Leu) c.1749T>G (p.Phe583Leu) c.*873T>G (n.*873T>G) c.*1408T>G (n.*1408T>G) c.1961T>G (n.1961T>G) c.1581T>G (p.Phe527Leu) c.1629T>G (p.Phe543Leu) c.1725T>G (p.Phe575Leu) c.1671T>G (p.Phe557Leu) c.1632T>G (p.Phe544Leu) | |
18 | g.33739153T= | CA2294855848 | ASXL3 | c.1752T= (p.Phe584=) c.1749T= (p.Phe583=) c.*873T= (n.*873T=) c.*1408T= (n.*1408T=) c.1961T= (n.1961T=) c.1581T= (p.Phe527=) c.1629T= (p.Phe543=) c.1725T= (p.Phe575=) c.1671T= (p.Phe557=) c.1632T= (p.Phe544=) | |
18 | g.33739154C>A | CA402176250 | ASXL3 | c.1753C>A (p.Pro585Thr) c.1750C>A (p.Pro584Thr) c.*874C>A (n.*874C>A) c.*1409C>A (n.*1409C>A) c.1962C>A (n.1962C>A) c.1582C>A (p.Pro528Thr) c.1630C>A (p.Pro544Thr) c.1726C>A (p.Pro576Thr) c.1672C>A (p.Pro558Thr) c.1633C>A (p.Pro545Thr) | |
18 | g.33739154C>G | CA402176251 | ASXL3 | c.1753C>G (p.Pro585Ala) c.1750C>G (p.Pro584Ala) c.*874C>G (n.*874C>G) c.*1409C>G (n.*1409C>G) c.1962C>G (n.1962C>G) c.1582C>G (p.Pro528Ala) c.1630C>G (p.Pro544Ala) c.1726C>G (p.Pro576Ala) c.1672C>G (p.Pro558Ala) c.1633C>G (p.Pro545Ala) | |
18 | g.33739154C>T | CA402176252 | ASXL3 | c.1753C>T (p.Pro585Ser) c.1750C>T (p.Pro584Ser) c.*874C>T (n.*874C>T) c.*1409C>T (n.*1409C>T) c.1962C>T (n.1962C>T) c.1582C>T (p.Pro528Ser) c.1630C>T (p.Pro544Ser) c.1726C>T (p.Pro576Ser) c.1672C>T (p.Pro558Ser) c.1633C>T (p.Pro545Ser) | COSMIC COSMIC |
18 | g.33739155C>A | CA402176255 | ASXL3 | c.1754C>A (p.Pro585Gln) c.1751C>A (p.Pro584Gln) c.*875C>A (n.*875C>A) c.*1410C>A (n.*1410C>A) c.1963C>A (n.1963C>A) c.1583C>A (p.Pro528Gln) c.1631C>A (p.Pro544Gln) c.1727C>A (p.Pro576Gln) c.1673C>A (p.Pro558Gln) c.1634C>A (p.Pro545Gln) | |
18 | g.33739155C>G | CA402176254 | ASXL3 | c.1754C>G (p.Pro585Arg) c.1751C>G (p.Pro584Arg) c.*875C>G (n.*875C>G) c.*1410C>G (n.*1410C>G) c.1963C>G (n.1963C>G) c.1583C>G (p.Pro528Arg) c.1631C>G (p.Pro544Arg) c.1727C>G (p.Pro576Arg) c.1673C>G (p.Pro558Arg) c.1634C>G (p.Pro545Arg) | |
18 | g.33739155C>T | CA402176253 | ASXL3 | c.1754C>T (p.Pro585Leu) c.1751C>T (p.Pro584Leu) c.*875C>T (n.*875C>T) c.*1410C>T (n.*1410C>T) c.1963C>T (n.1963C>T) c.1583C>T (p.Pro528Leu) c.1631C>T (p.Pro544Leu) c.1727C>T (p.Pro576Leu) c.1673C>T (p.Pro558Leu) c.1634C>T (p.Pro545Leu) | |
18 | g.33739156A>C | CA503768627 | ASXL3 | c.1755A>C (p.Pro585=) c.1752A>C (p.Pro584=) c.*876A>C (n.*876A>C) c.*1411A>C (n.*1411A>C) c.1964A>C (n.1964A>C) c.1584A>C (p.Pro528=) c.1632A>C (p.Pro544=) c.1728A>C (p.Pro576=) c.1674A>C (p.Pro558=) c.1635A>C (p.Pro545=) | |
18 | g.33739156A>G | CA503768629 | ASXL3 | c.1755A>G (p.Pro585=) c.1752A>G (p.Pro584=) c.*876A>G (n.*876A>G) c.*1411A>G (n.*1411A>G) c.1964A>G (n.1964A>G) c.1584A>G (p.Pro528=) c.1632A>G (p.Pro544=) c.1728A>G (p.Pro576=) c.1674A>G (p.Pro558=) c.1635A>G (p.Pro545=) | |
18 | g.33739156A>T | CA503768630 | ASXL3 | c.1755A>T (p.Pro585=) c.1752A>T (p.Pro584=) c.*876A>T (n.*876A>T) c.*1411A>T (n.*1411A>T) c.1964A>T (n.1964A>T) c.1584A>T (p.Pro528=) c.1632A>T (p.Pro544=) c.1728A>T (p.Pro576=) c.1674A>T (p.Pro558=) c.1635A>T (p.Pro545=) | |
18 | g.33739158del | CA2739291099 | ASXL3 | c.1757del (p.Asn586MetfsTer6) c.1754del (p.Asn585MetfsTer6) c.*878del (n.*878del) c.*1413del (n.*1413del) c.1966del (n.1966del) c.1586del (p.Asn529MetfsTer6) c.1634del (p.Asn545MetfsTer6) c.1730del (p.Asn577MetfsTer6) c.1676del (p.Asn559MetfsTer6) c.1637del (p.Asn546MetfsTer6) | |
18 | g.33739157A= | CA2294855849 | ASXL3 | c.1756A= (p.Asn586=) c.1753A= (p.Asn585=) c.*877A= (n.*877A=) c.*1412A= (n.*1412A=) c.1965A= (n.1965A=) c.1585A= (p.Asn529=) c.1633A= (p.Asn545=) c.1729A= (p.Asn577=) c.1675A= (p.Asn559=) c.1636A= (p.Asn546=) | |
18 | g.33739157A>C | CA402176256 | ASXL3 | c.1756A>C (p.Asn586His) c.1753A>C (p.Asn585His) c.*877A>C (n.*877A>C) c.*1412A>C (n.*1412A>C) c.1965A>C (n.1965A>C) c.1585A>C (p.Asn529His) c.1633A>C (p.Asn545His) c.1729A>C (p.Asn577His) c.1675A>C (p.Asn559His) c.1636A>C (p.Asn546His) | |
18 | g.33739157A>G | CA402176257 | ASXL3 | c.1756A>G (p.Asn586Asp) c.1753A>G (p.Asn585Asp) c.*877A>G (n.*877A>G) c.*1412A>G (n.*1412A>G) c.1965A>G (n.1965A>G) c.1585A>G (p.Asn529Asp) c.1633A>G (p.Asn545Asp) c.1729A>G (p.Asn577Asp) c.1675A>G (p.Asn559Asp) c.1636A>G (p.Asn546Asp) | dbSNP |
18 | g.33739157A>T | CA402176258 | ASXL3 | c.1756A>T (p.Asn586Tyr) c.1753A>T (p.Asn585Tyr) c.*877A>T (n.*877A>T) c.*1412A>T (n.*1412A>T) c.1965A>T (n.1965A>T) c.1585A>T (p.Asn529Tyr) c.1633A>T (p.Asn545Tyr) c.1729A>T (p.Asn577Tyr) c.1675A>T (p.Asn559Tyr) c.1636A>T (p.Asn546Tyr) | |
18 | g.33739158A= | CA2294855850 | ASXL3 | c.1757A= (p.Asn586=) c.1754A= (p.Asn585=) c.*878A= (n.*878A=) c.*1413A= (n.*1413A=) c.1966A= (n.1966A=) c.1586A= (p.Asn529=) c.1634A= (p.Asn545=) c.1730A= (p.Asn577=) c.1676A= (p.Asn559=) c.1637A= (p.Asn546=) | |
18 | g.33739158A>C | CA402176259 | ASXL3 | c.1757A>C (p.Asn586Thr) c.1754A>C (p.Asn585Thr) c.*878A>C (n.*878A>C) c.*1413A>C (n.*1413A>C) c.1966A>C (n.1966A>C) c.1586A>C (p.Asn529Thr) c.1634A>C (p.Asn545Thr) c.1730A>C (p.Asn577Thr) c.1676A>C (p.Asn559Thr) c.1637A>C (p.Asn546Thr) | gnomAD v4 |
18 | g.33739158A>G | CA402176260 | ASXL3 | c.1757A>G (p.Asn586Ser) c.1754A>G (p.Asn585Ser) c.*878A>G (n.*878A>G) c.*1413A>G (n.*1413A>G) c.1966A>G (n.1966A>G) c.1586A>G (p.Asn529Ser) c.1634A>G (p.Asn545Ser) c.1730A>G (p.Asn577Ser) c.1676A>G (p.Asn559Ser) c.1637A>G (p.Asn546Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739158A>T | CA402176261 | ASXL3 | c.1757A>T (p.Asn586Ile) c.1754A>T (p.Asn585Ile) c.*878A>T (n.*878A>T) c.*1413A>T (n.*1413A>T) c.1966A>T (n.1966A>T) c.1586A>T (p.Asn529Ile) c.1634A>T (p.Asn545Ile) c.1730A>T (p.Asn577Ile) c.1676A>T (p.Asn559Ile) c.1637A>T (p.Asn546Ile) | gnomAD v4 |
18 | g.33739159T>A | CA402176262 | ASXL3 | c.1758T>A (p.Asn586Lys) c.1755T>A (p.Asn585Lys) c.*879T>A (n.*879T>A) c.*1414T>A (n.*1414T>A) c.1967T>A (n.1967T>A) c.1587T>A (p.Asn529Lys) c.1635T>A (p.Asn545Lys) c.1731T>A (p.Asn577Lys) c.1677T>A (p.Asn559Lys) c.1638T>A (p.Asn546Lys) | |
18 | g.33739159T>C | CA503768637 | ASXL3 | c.1758T>C (p.Asn586=) c.1755T>C (p.Asn585=) c.*879T>C (n.*879T>C) c.*1414T>C (n.*1414T>C) c.1967T>C (n.1967T>C) c.1587T>C (p.Asn529=) c.1635T>C (p.Asn545=) c.1731T>C (p.Asn577=) c.1677T>C (p.Asn559=) c.1638T>C (p.Asn546=) | dbSNP gnomAD v4 |
18 | g.33739159T>G | CA402176263 | ASXL3 | c.1758T>G (p.Asn586Lys) c.1755T>G (p.Asn585Lys) c.*879T>G (n.*879T>G) c.*1414T>G (n.*1414T>G) c.1967T>G (n.1967T>G) c.1587T>G (p.Asn529Lys) c.1635T>G (p.Asn545Lys) c.1731T>G (p.Asn577Lys) c.1677T>G (p.Asn559Lys) c.1638T>G (p.Asn546Lys) | |
18 | g.33739159T= | CA2294855851 | ASXL3 | c.1758T= (p.Asn586=) c.1755T= (p.Asn585=) c.*879T= (n.*879T=) c.*1414T= (n.*1414T=) c.1967T= (n.1967T=) c.1587T= (p.Asn529=) c.1635T= (p.Asn545=) c.1731T= (p.Asn577=) c.1677T= (p.Asn559=) c.1638T= (p.Asn546=) | |
18 | g.33739160G>A | CA402176264 | ASXL3 | c.1759G>A (p.Glu587Lys) c.1756G>A (p.Glu586Lys) c.*880G>A (n.*880G>A) c.*1415G>A (n.*1415G>A) c.1968G>A (n.1968G>A) c.1588G>A (p.Glu530Lys) c.1636G>A (p.Glu546Lys) c.1732G>A (p.Glu578Lys) c.1678G>A (p.Glu560Lys) c.1639G>A (p.Glu547Lys) | COSMIC COSMIC |
18 | g.33739160G>C | CA402176265 | ASXL3 | c.1759G>C (p.Glu587Gln) c.1756G>C (p.Glu586Gln) c.*880G>C (n.*880G>C) c.*1415G>C (n.*1415G>C) c.1968G>C (n.1968G>C) c.1588G>C (p.Glu530Gln) c.1636G>C (p.Glu546Gln) c.1732G>C (p.Glu578Gln) c.1678G>C (p.Glu560Gln) c.1639G>C (p.Glu547Gln) | |
18 | g.33739160G>T | CA402176266 | ASXL3 | c.1759G>T (p.Glu587Ter) c.1756G>T (p.Glu586Ter) c.*880G>T (n.*880G>T) c.*1415G>T (n.*1415G>T) c.1968G>T (n.1968G>T) c.1588G>T (p.Glu530Ter) c.1636G>T (p.Glu546Ter) c.1732G>T (p.Glu578Ter) c.1678G>T (p.Glu560Ter) c.1639G>T (p.Glu547Ter) | |
18 | g.33739161A>C | CA402176267 | ASXL3 | c.1760A>C (p.Glu587Ala) c.1757A>C (p.Glu586Ala) c.*881A>C (n.*881A>C) c.*1416A>C (n.*1416A>C) c.1969A>C (n.1969A>C) c.1589A>C (p.Glu530Ala) c.1637A>C (p.Glu546Ala) c.1733A>C (p.Glu578Ala) c.1679A>C (p.Glu560Ala) c.1640A>C (p.Glu547Ala) | |
18 | g.33739161A>G | CA402176268 | ASXL3 | c.1760A>G (p.Glu587Gly) c.1757A>G (p.Glu586Gly) c.*881A>G (n.*881A>G) c.*1416A>G (n.*1416A>G) c.1969A>G (n.1969A>G) c.1589A>G (p.Glu530Gly) c.1637A>G (p.Glu546Gly) c.1733A>G (p.Glu578Gly) c.1679A>G (p.Glu560Gly) c.1640A>G (p.Glu547Gly) | |
18 | g.33739161A>T | CA402176269 | ASXL3 | c.1760A>T (p.Glu587Val) c.1757A>T (p.Glu586Val) c.*881A>T (n.*881A>T) c.*1416A>T (n.*1416A>T) c.1969A>T (n.1969A>T) c.1589A>T (p.Glu530Val) c.1637A>T (p.Glu546Val) c.1733A>T (p.Glu578Val) c.1679A>T (p.Glu560Val) c.1640A>T (p.Glu547Val) | |
18 | g.33739162A>C | CA402176271 | ASXL3 | c.1761A>C (p.Glu587Asp) c.1758A>C (p.Glu586Asp) c.*882A>C (n.*882A>C) c.*1417A>C (n.*1417A>C) c.1970A>C (n.1970A>C) c.1590A>C (p.Glu530Asp) c.1638A>C (p.Glu546Asp) c.1734A>C (p.Glu578Asp) c.1680A>C (p.Glu560Asp) c.1641A>C (p.Glu547Asp) | |
18 | g.33739162A>G | CA503768642 | ASXL3 | c.1761A>G (p.Glu587=) c.1758A>G (p.Glu586=) c.*882A>G (n.*882A>G) c.*1417A>G (n.*1417A>G) c.1970A>G (n.1970A>G) c.1590A>G (p.Glu530=) c.1638A>G (p.Glu546=) c.1734A>G (p.Glu578=) c.1680A>G (p.Glu560=) c.1641A>G (p.Glu547=) | gnomAD v4 |
18 | g.33739162A>T | CA402176270 | ASXL3 | c.1761A>T (p.Glu587Asp) c.1758A>T (p.Glu586Asp) c.*882A>T (n.*882A>T) c.*1417A>T (n.*1417A>T) c.1970A>T (n.1970A>T) c.1590A>T (p.Glu530Asp) c.1638A>T (p.Glu546Asp) c.1734A>T (p.Glu578Asp) c.1680A>T (p.Glu560Asp) c.1641A>T (p.Glu547Asp) | |
18 | g.33739163G>A | CA402176272 | ASXL3 | c.1762G>A (p.Gly588Arg) c.1759G>A (p.Gly587Arg) c.*883G>A (n.*883G>A) c.*1418G>A (n.*1418G>A) c.1971G>A (n.1971G>A) c.1591G>A (p.Gly531Arg) c.1639G>A (p.Gly547Arg) c.1735G>A (p.Gly579Arg) c.1681G>A (p.Gly561Arg) c.1642G>A (p.Gly548Arg) | gnomAD v4 |
18 | g.33739163G>C | CA402176273 | ASXL3 | c.1762G>C (p.Gly588Arg) c.1759G>C (p.Gly587Arg) c.*883G>C (n.*883G>C) c.*1418G>C (n.*1418G>C) c.1971G>C (n.1971G>C) c.1591G>C (p.Gly531Arg) c.1639G>C (p.Gly547Arg) c.1735G>C (p.Gly579Arg) c.1681G>C (p.Gly561Arg) c.1642G>C (p.Gly548Arg) | |
18 | g.33739163G>T | CA402176274 | ASXL3 | c.1762G>T (p.Gly588Ter) c.1759G>T (p.Gly587Ter) c.*883G>T (n.*883G>T) c.*1418G>T (n.*1418G>T) c.1971G>T (n.1971G>T) c.1591G>T (p.Gly531Ter) c.1639G>T (p.Gly547Ter) c.1735G>T (p.Gly579Ter) c.1681G>T (p.Gly561Ter) c.1642G>T (p.Gly548Ter) | COSMIC COSMIC |
18 | g.33739164G>A | CA8933810 | ASXL3 | c.1763G>A (p.Gly588Glu) c.1760G>A (p.Gly587Glu) c.*884G>A (n.*884G>A) c.*1419G>A (n.*1419G>A) c.1972G>A (n.1972G>A) c.1592G>A (p.Gly531Glu) c.1640G>A (p.Gly547Glu) c.1736G>A (p.Gly579Glu) c.1682G>A (p.Gly561Glu) c.1643G>A (p.Gly548Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739164G>C | CA402176275 | ASXL3 | c.1763G>C (p.Gly588Ala) c.1760G>C (p.Gly587Ala) c.*884G>C (n.*884G>C) c.*1419G>C (n.*1419G>C) c.1972G>C (n.1972G>C) c.1592G>C (p.Gly531Ala) c.1640G>C (p.Gly547Ala) c.1736G>C (p.Gly579Ala) c.1682G>C (p.Gly561Ala) c.1643G>C (p.Gly548Ala) | |
18 | g.33739164G= | CA2294855852 | ASXL3 | c.1763G= (p.Gly588=) c.1760G= (p.Gly587=) c.*884G= (n.*884G=) c.*1419G= (n.*1419G=) c.1972G= (n.1972G=) c.1592G= (p.Gly531=) c.1640G= (p.Gly547=) c.1736G= (p.Gly579=) c.1682G= (p.Gly561=) c.1643G= (p.Gly548=) | |
18 | g.33739164G>T | CA402176276 | ASXL3 | c.1763G>T (p.Gly588Val) c.1760G>T (p.Gly587Val) c.*884G>T (n.*884G>T) c.*1419G>T (n.*1419G>T) c.1972G>T (n.1972G>T) c.1592G>T (p.Gly531Val) c.1640G>T (p.Gly547Val) c.1736G>T (p.Gly579Val) c.1682G>T (p.Gly561Val) c.1643G>T (p.Gly548Val) | COSMIC COSMIC |
18 | g.33739165A>C | CA503768650 | ASXL3 | c.1764A>C (p.Gly588=) c.1761A>C (p.Gly587=) c.*885A>C (n.*885A>C) c.*1420A>C (n.*1420A>C) c.1973A>C (n.1973A>C) c.1593A>C (p.Gly531=) c.1641A>C (p.Gly547=) c.1737A>C (p.Gly579=) c.1683A>C (p.Gly561=) c.1644A>C (p.Gly548=) | |
18 | g.33739165A>G | CA503768646 | ASXL3 | c.1764A>G (p.Gly588=) c.1761A>G (p.Gly587=) c.*885A>G (n.*885A>G) c.*1420A>G (n.*1420A>G) c.1973A>G (n.1973A>G) c.1593A>G (p.Gly531=) c.1641A>G (p.Gly547=) c.1737A>G (p.Gly579=) c.1683A>G (p.Gly561=) c.1644A>G (p.Gly548=) | |
18 | g.33739165A>T | CA503768649 | ASXL3 | c.1764A>T (p.Gly588=) c.1761A>T (p.Gly587=) c.*885A>T (n.*885A>T) c.*1420A>T (n.*1420A>T) c.1973A>T (n.1973A>T) c.1593A>T (p.Gly531=) c.1641A>T (p.Gly547=) c.1737A>T (p.Gly579=) c.1683A>T (p.Gly561=) c.1644A>T (p.Gly548=) | |
18 | g.33739166A= | CA2294855853 | ASXL3 | c.1765A= (p.Ile589=) c.1762A= (p.Ile588=) c.*886A= (n.*886A=) c.*1421A= (n.*1421A=) c.1974A= (n.1974A=) c.1594A= (p.Ile532=) c.1642A= (p.Ile548=) c.1738A= (p.Ile580=) c.1684A= (p.Ile562=) c.1645A= (p.Ile549=) | |
18 | g.33739166A>C | CA402176278 | ASXL3 | c.1765A>C (p.Ile589Leu) c.1762A>C (p.Ile588Leu) c.*886A>C (n.*886A>C) c.*1421A>C (n.*1421A>C) c.1974A>C (n.1974A>C) c.1594A>C (p.Ile532Leu) c.1642A>C (p.Ile548Leu) c.1738A>C (p.Ile580Leu) c.1684A>C (p.Ile562Leu) c.1645A>C (p.Ile549Leu) | gnomAD v4 |
18 | g.33739166A>G | CA8933811 | ASXL3 | c.1765A>G (p.Ile589Val) c.1762A>G (p.Ile588Val) c.*886A>G (n.*886A>G) c.*1421A>G (n.*1421A>G) c.1974A>G (n.1974A>G) c.1594A>G (p.Ile532Val) c.1642A>G (p.Ile548Val) c.1738A>G (p.Ile580Val) c.1684A>G (p.Ile562Val) c.1645A>G (p.Ile549Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739166A>T | CA402176277 | ASXL3 | c.1765A>T (p.Ile589Phe) c.1762A>T (p.Ile588Phe) c.*886A>T (n.*886A>T) c.*1421A>T (n.*1421A>T) c.1974A>T (n.1974A>T) c.1594A>T (p.Ile532Phe) c.1642A>T (p.Ile548Phe) c.1738A>T (p.Ile580Phe) c.1684A>T (p.Ile562Phe) c.1645A>T (p.Ile549Phe) | |
18 | g.33739167T>A | CA402176279 | ASXL3 | c.1766T>A (p.Ile589Asn) c.1763T>A (p.Ile588Asn) c.*887T>A (n.*887T>A) c.*1422T>A (n.*1422T>A) c.1975T>A (n.1975T>A) c.1595T>A (p.Ile532Asn) c.1643T>A (p.Ile548Asn) c.1739T>A (p.Ile580Asn) c.1685T>A (p.Ile562Asn) c.1646T>A (p.Ile549Asn) | |
18 | g.33739167T>C | CA402176280 | ASXL3 | c.1766T>C (p.Ile589Thr) c.1763T>C (p.Ile588Thr) c.*887T>C (n.*887T>C) c.*1422T>C (n.*1422T>C) c.1975T>C (n.1975T>C) c.1595T>C (p.Ile532Thr) c.1643T>C (p.Ile548Thr) c.1739T>C (p.Ile580Thr) c.1685T>C (p.Ile562Thr) c.1646T>C (p.Ile549Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739167T>G | CA402176281 | ASXL3 | c.1766T>G (p.Ile589Ser) c.1763T>G (p.Ile588Ser) c.*887T>G (n.*887T>G) c.*1422T>G (n.*1422T>G) c.1975T>G (n.1975T>G) c.1595T>G (p.Ile532Ser) c.1643T>G (p.Ile548Ser) c.1739T>G (p.Ile580Ser) c.1685T>G (p.Ile562Ser) c.1646T>G (p.Ile549Ser) | |
18 | g.33739167T= | CA2294855854 | ASXL3 | c.1766T= (p.Ile589=) c.1763T= (p.Ile588=) c.*887T= (n.*887T=) c.*1422T= (n.*1422T=) c.1975T= (n.1975T=) c.1595T= (p.Ile532=) c.1643T= (p.Ile548=) c.1739T= (p.Ile580=) c.1685T= (p.Ile562=) c.1646T= (p.Ile549=) | |
18 | g.33739168T>A | CA503768666 | ASXL3 | c.1767T>A (p.Ile589=) c.1764T>A (p.Ile588=) c.*888T>A (n.*888T>A) c.*1423T>A (n.*1423T>A) c.1976T>A (n.1976T>A) c.1596T>A (p.Ile532=) c.1644T>A (p.Ile548=) c.1740T>A (p.Ile580=) c.1686T>A (p.Ile562=) c.1647T>A (p.Ile549=) | |
18 | g.33739168T>C | CA297787009 | ASXL3 | c.1767T>C (p.Ile589=) c.1764T>C (p.Ile588=) c.*888T>C (n.*888T>C) c.*1423T>C (n.*1423T>C) c.1976T>C (n.1976T>C) c.1596T>C (p.Ile532=) c.1644T>C (p.Ile548=) c.1740T>C (p.Ile580=) c.1686T>C (p.Ile562=) c.1647T>C (p.Ile549=) | dbSNP gnomAD v4 |
18 | g.33739168T>G | CA402176282 | ASXL3 | c.1767T>G (p.Ile589Met) c.1764T>G (p.Ile588Met) c.*888T>G (n.*888T>G) c.*1423T>G (n.*1423T>G) c.1976T>G (n.1976T>G) c.1596T>G (p.Ile532Met) c.1644T>G (p.Ile548Met) c.1740T>G (p.Ile580Met) c.1686T>G (p.Ile562Met) c.1647T>G (p.Ile549Met) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739168T= | CA2294855855 | ASXL3 | c.1767T= (p.Ile589=) c.1764T= (p.Ile588=) c.*888T= (n.*888T=) c.*1423T= (n.*1423T=) c.1976T= (n.1976T=) c.1596T= (p.Ile532=) c.1644T= (p.Ile548=) c.1740T= (p.Ile580=) c.1686T= (p.Ile562=) c.1647T= (p.Ile549=) | |
18 | g.33739169G>A | CA402176283 | ASXL3 | c.1768G>A (p.Ala590Thr) c.1765G>A (p.Ala589Thr) c.*889G>A (n.*889G>A) c.*1424G>A (n.*1424G>A) c.1977G>A (n.1977G>A) c.1597G>A (p.Ala533Thr) c.1645G>A (p.Ala549Thr) c.1741G>A (p.Ala581Thr) c.1687G>A (p.Ala563Thr) c.1648G>A (p.Ala550Thr) | |
18 | g.33739169G>C | CA402176285 | ASXL3 | c.1768G>C (p.Ala590Pro) c.1765G>C (p.Ala589Pro) c.*889G>C (n.*889G>C) c.*1424G>C (n.*1424G>C) c.1977G>C (n.1977G>C) c.1597G>C (p.Ala533Pro) c.1645G>C (p.Ala549Pro) c.1741G>C (p.Ala581Pro) c.1687G>C (p.Ala563Pro) c.1648G>C (p.Ala550Pro) | |
18 | g.33739169G>T | CA402176284 | ASXL3 | c.1768G>T (p.Ala590Ser) c.1765G>T (p.Ala589Ser) c.*889G>T (n.*889G>T) c.*1424G>T (n.*1424G>T) c.1977G>T (n.1977G>T) c.1597G>T (p.Ala533Ser) c.1645G>T (p.Ala549Ser) c.1741G>T (p.Ala581Ser) c.1687G>T (p.Ala563Ser) c.1648G>T (p.Ala550Ser) | gnomAD v4 |
18 | g.33739170C>A | CA402176286 | ASXL3 | c.1769C>A (p.Ala590Asp) c.1766C>A (p.Ala589Asp) c.*890C>A (n.*890C>A) c.*1425C>A (n.*1425C>A) c.1978C>A (n.1978C>A) c.1598C>A (p.Ala533Asp) c.1646C>A (p.Ala549Asp) c.1742C>A (p.Ala581Asp) c.1688C>A (p.Ala563Asp) c.1649C>A (p.Ala550Asp) | |
18 | g.33739170C>G | CA402176287 | ASXL3 | c.1769C>G (p.Ala590Gly) c.1766C>G (p.Ala589Gly) c.*890C>G (n.*890C>G) c.*1425C>G (n.*1425C>G) c.1978C>G (n.1978C>G) c.1598C>G (p.Ala533Gly) c.1646C>G (p.Ala549Gly) c.1742C>G (p.Ala581Gly) c.1688C>G (p.Ala563Gly) c.1649C>G (p.Ala550Gly) | gnomAD v4 |
18 | g.33739170C>T | CA402176288 | ASXL3 | c.1769C>T (p.Ala590Val) c.1766C>T (p.Ala589Val) c.*890C>T (n.*890C>T) c.*1425C>T (n.*1425C>T) c.1978C>T (n.1978C>T) c.1598C>T (p.Ala533Val) c.1646C>T (p.Ala549Val) c.1742C>T (p.Ala581Val) c.1688C>T (p.Ala563Val) c.1649C>T (p.Ala550Val) | |
18 | g.33739171T>A | CA503768676 | ASXL3 | c.1770T>A (p.Ala590=) c.1767T>A (p.Ala589=) c.*891T>A (n.*891T>A) c.*1426T>A (n.*1426T>A) c.1979T>A (n.1979T>A) c.1599T>A (p.Ala533=) c.1647T>A (p.Ala549=) c.1743T>A (p.Ala581=) c.1689T>A (p.Ala563=) c.1650T>A (p.Ala550=) | |
18 | g.33739171T>C | CA503768675 | ASXL3 | c.1770T>C (p.Ala590=) c.1767T>C (p.Ala589=) c.*891T>C (n.*891T>C) c.*1426T>C (n.*1426T>C) c.1979T>C (n.1979T>C) c.1599T>C (p.Ala533=) c.1647T>C (p.Ala549=) c.1743T>C (p.Ala581=) c.1689T>C (p.Ala563=) c.1650T>C (p.Ala550=) | |
18 | g.33739171T>G | CA503768674 | ASXL3 | c.1770T>G (p.Ala590=) c.1767T>G (p.Ala589=) c.*891T>G (n.*891T>G) c.*1426T>G (n.*1426T>G) c.1979T>G (n.1979T>G) c.1599T>G (p.Ala533=) c.1647T>G (p.Ala549=) c.1743T>G (p.Ala581=) c.1689T>G (p.Ala563=) c.1650T>G (p.Ala550=) | |
18 | g.33739172A= | CA2294855856 | ASXL3 | c.1771A= (p.Ile591=) c.1768A= (p.Ile590=) c.*892A= (n.*892A=) c.*1427A= (n.*1427A=) c.1980A= (n.1980A=) c.1600A= (p.Ile534=) c.1648A= (p.Ile550=) c.1744A= (p.Ile582=) c.1690A= (p.Ile564=) c.1651A= (p.Ile551=) | |
18 | g.33739172A>C | CA402176289 | ASXL3 | c.1771A>C (p.Ile591Leu) c.1768A>C (p.Ile590Leu) c.*892A>C (n.*892A>C) c.*1427A>C (n.*1427A>C) c.1980A>C (n.1980A>C) c.1600A>C (p.Ile534Leu) c.1648A>C (p.Ile550Leu) c.1744A>C (p.Ile582Leu) c.1690A>C (p.Ile564Leu) c.1651A>C (p.Ile551Leu) | |
18 | g.33739172A>G | CA402176290 | ASXL3 | c.1771A>G (p.Ile591Val) c.1768A>G (p.Ile590Val) c.*892A>G (n.*892A>G) c.*1427A>G (n.*1427A>G) c.1980A>G (n.1980A>G) c.1600A>G (p.Ile534Val) c.1648A>G (p.Ile550Val) c.1744A>G (p.Ile582Val) c.1690A>G (p.Ile564Val) c.1651A>G (p.Ile551Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739172A>T | CA402176291 | ASXL3 | c.1771A>T (p.Ile591Leu) c.1768A>T (p.Ile590Leu) c.*892A>T (n.*892A>T) c.*1427A>T (n.*1427A>T) c.1980A>T (n.1980A>T) c.1600A>T (p.Ile534Leu) c.1648A>T (p.Ile550Leu) c.1744A>T (p.Ile582Leu) c.1690A>T (p.Ile564Leu) c.1651A>T (p.Ile551Leu) | |
18 | g.33739173T>A | CA402176292 | ASXL3 | c.1772T>A (p.Ile591Lys) c.1769T>A (p.Ile590Lys) c.*893T>A (n.*893T>A) c.*1428T>A (n.*1428T>A) c.1981T>A (n.1981T>A) c.1601T>A (p.Ile534Lys) c.1649T>A (p.Ile550Lys) c.1745T>A (p.Ile582Lys) c.1691T>A (p.Ile564Lys) c.1652T>A (p.Ile551Lys) | |
18 | g.33739173T>C | CA8933812 | ASXL3 | c.1772T>C (p.Ile591Thr) c.1769T>C (p.Ile590Thr) c.*893T>C (n.*893T>C) c.*1428T>C (n.*1428T>C) c.1981T>C (n.1981T>C) c.1601T>C (p.Ile534Thr) c.1649T>C (p.Ile550Thr) c.1745T>C (p.Ile582Thr) c.1691T>C (p.Ile564Thr) c.1652T>C (p.Ile551Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739173T>G | CA402176293 | ASXL3 | c.1772T>G (p.Ile591Arg) c.1769T>G (p.Ile590Arg) c.*893T>G (n.*893T>G) c.*1428T>G (n.*1428T>G) c.1981T>G (n.1981T>G) c.1601T>G (p.Ile534Arg) c.1649T>G (p.Ile550Arg) c.1745T>G (p.Ile582Arg) c.1691T>G (p.Ile564Arg) c.1652T>G (p.Ile551Arg) | |
18 | g.33739173T= | CA2294855857 | ASXL3 | c.1772T= (p.Ile591=) c.1769T= (p.Ile590=) c.*893T= (n.*893T=) c.*1428T= (n.*1428T=) c.1981T= (n.1981T=) c.1601T= (p.Ile534=) c.1649T= (p.Ile550=) c.1745T= (p.Ile582=) c.1691T= (p.Ile564=) c.1652T= (p.Ile551=) | |
18 | g.33739174A>C | CA503768687 | ASXL3 | c.1773A>C (p.Ile591=) c.1770A>C (p.Ile590=) c.*894A>C (n.*894A>C) c.*1429A>C (n.*1429A>C) c.1982A>C (n.1982A>C) c.1602A>C (p.Ile534=) c.1650A>C (p.Ile550=) c.1746A>C (p.Ile582=) c.1692A>C (p.Ile564=) c.1653A>C (p.Ile551=) | |
18 | g.33739174A>G | CA402176294 | ASXL3 | c.1773A>G (p.Ile591Met) c.1770A>G (p.Ile590Met) c.*894A>G (n.*894A>G) c.*1429A>G (n.*1429A>G) c.1982A>G (n.1982A>G) c.1602A>G (p.Ile534Met) c.1650A>G (p.Ile550Met) c.1746A>G (p.Ile582Met) c.1692A>G (p.Ile564Met) c.1653A>G (p.Ile551Met) | |
18 | g.33739174A>T | CA503768686 | ASXL3 | c.1773A>T (p.Ile591=) c.1770A>T (p.Ile590=) c.*894A>T (n.*894A>T) c.*1429A>T (n.*1429A>T) c.1982A>T (n.1982A>T) c.1602A>T (p.Ile534=) c.1650A>T (p.Ile550=) c.1746A>T (p.Ile582=) c.1692A>T (p.Ile564=) c.1653A>T (p.Ile551=) | |
18 | g.33739175G>A | CA402176295 | ASXL3 | c.1774G>A (p.Asp592Asn) c.1771G>A (p.Asp591Asn) c.*895G>A (n.*895G>A) c.*1430G>A (n.*1430G>A) c.1983G>A (n.1983G>A) c.1603G>A (p.Asp535Asn) c.1651G>A (p.Asp551Asn) c.1747G>A (p.Asp583Asn) c.1693G>A (p.Asp565Asn) c.1654G>A (p.Asp552Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739175G>C | CA402176296 | ASXL3 | c.1774G>C (p.Asp592His) c.1771G>C (p.Asp591His) c.*895G>C (n.*895G>C) c.*1430G>C (n.*1430G>C) c.1983G>C (n.1983G>C) c.1603G>C (p.Asp535His) c.1651G>C (p.Asp551His) c.1747G>C (p.Asp583His) c.1693G>C (p.Asp565His) c.1654G>C (p.Asp552His) | |
18 | g.33739175G= | CA2294855858 | ASXL3 | c.1774G= (p.Asp592=) c.1771G= (p.Asp591=) c.*895G= (n.*895G=) c.*1430G= (n.*1430G=) c.1983G= (n.1983G=) c.1603G= (p.Asp535=) c.1651G= (p.Asp551=) c.1747G= (p.Asp583=) c.1693G= (p.Asp565=) c.1654G= (p.Asp552=) | |
18 | g.33739175G>T | CA402176297 | ASXL3 | c.1774G>T (p.Asp592Tyr) c.1771G>T (p.Asp591Tyr) c.*895G>T (n.*895G>T) c.*1430G>T (n.*1430G>T) c.1983G>T (n.1983G>T) c.1603G>T (p.Asp535Tyr) c.1651G>T (p.Asp551Tyr) c.1747G>T (p.Asp583Tyr) c.1693G>T (p.Asp565Tyr) c.1654G>T (p.Asp552Tyr) | |
18 | g.33739176A>C | CA402176300 | ASXL3 | c.1775A>C (p.Asp592Ala) c.1772A>C (p.Asp591Ala) c.*896A>C (n.*896A>C) c.*1431A>C (n.*1431A>C) c.1984A>C (n.1984A>C) c.1604A>C (p.Asp535Ala) c.1652A>C (p.Asp551Ala) c.1748A>C (p.Asp583Ala) c.1694A>C (p.Asp565Ala) c.1655A>C (p.Asp552Ala) | |
18 | g.33739176A>G | CA402176298 | ASXL3 | c.1775A>G (p.Asp592Gly) c.1772A>G (p.Asp591Gly) c.*896A>G (n.*896A>G) c.*1431A>G (n.*1431A>G) c.1984A>G (n.1984A>G) c.1604A>G (p.Asp535Gly) c.1652A>G (p.Asp551Gly) c.1748A>G (p.Asp583Gly) c.1694A>G (p.Asp565Gly) c.1655A>G (p.Asp552Gly) | |
18 | g.33739176A>T | CA402176299 | ASXL3 | c.1775A>T (p.Asp592Val) c.1772A>T (p.Asp591Val) c.*896A>T (n.*896A>T) c.*1431A>T (n.*1431A>T) c.1984A>T (n.1984A>T) c.1604A>T (p.Asp535Val) c.1652A>T (p.Asp551Val) c.1748A>T (p.Asp583Val) c.1694A>T (p.Asp565Val) c.1655A>T (p.Asp552Val) | |
18 | g.33739177T>A | CA402176301 | ASXL3 | c.1776T>A (p.Asp592Glu) c.1773T>A (p.Asp591Glu) c.*897T>A (n.*897T>A) c.*1432T>A (n.*1432T>A) c.1985T>A (n.1985T>A) c.1605T>A (p.Asp535Glu) c.1653T>A (p.Asp551Glu) c.1749T>A (p.Asp583Glu) c.1695T>A (p.Asp565Glu) c.1656T>A (p.Asp552Glu) | |
18 | g.33739177T>C | CA503768698 | ASXL3 | c.1776T>C (p.Asp592=) c.1773T>C (p.Asp591=) c.*897T>C (n.*897T>C) c.*1432T>C (n.*1432T>C) c.1985T>C (n.1985T>C) c.1605T>C (p.Asp535=) c.1653T>C (p.Asp551=) c.1749T>C (p.Asp583=) c.1695T>C (p.Asp565=) c.1656T>C (p.Asp552=) | |
18 | g.33739177T>G | CA402176302 | ASXL3 | c.1776T>G (p.Asp592Glu) c.1773T>G (p.Asp591Glu) c.*897T>G (n.*897T>G) c.*1432T>G (n.*1432T>G) c.1985T>G (n.1985T>G) c.1605T>G (p.Asp535Glu) c.1653T>G (p.Asp551Glu) c.1749T>G (p.Asp583Glu) c.1695T>G (p.Asp565Glu) c.1656T>G (p.Asp552Glu) |