Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33736196_33741393delCA1139666016ASXL3c.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
18g.33736199_33741395delCA915951347ASXL3c.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
18g.33738935_33738976dupCA629454084ASXL3c.1534_1575dup (p.Glu525_Ser526insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1531_1572dup (p.Glu524_Ser525insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.*655_*696dup (n.*655_*696dup)
c.*1190_*1231dup (n.*1190_*1231dup)
c.1743_1784dup (n.1743_1784dup)
c.1363_1404dup (p.Glu468_Ser469insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1411_1452dup (p.Glu484_Ser485insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1507_1548dup (p.Glu516_Ser517insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1453_1494dup (p.Glu498_Ser499insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1414_1455dup (p.Glu485_Ser486insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738936_33738953delCA2576484111ASXL3c.1535_1552del (p.Thr512_Val518delinsIle)
c.1532_1549del (p.Thr511_Val517delinsIle)
c.*656_*673del (n.*656_*673del)
c.*1191_*1208del (n.*1191_*1208del)
c.1744_1761del (n.1744_1761del)
c.1364_1381del (p.Thr455_Val461delinsIle)
c.1412_1429del (p.Thr471_Val477delinsIle)
c.1508_1525del (p.Thr503_Val509delinsIle)
c.1454_1471del (p.Thr485_Val491delinsIle)
c.1415_1432del (p.Thr472_Val478delinsIle)
gnomAD v4
18g.33738949_33738957dupCA8933769ASXL3c.1548_1556dup (p.Val518_Lys519insAsnGluVal)
c.1545_1553dup (p.Val517_Lys518insAsnGluVal)
c.*669_*677dup (n.*669_*677dup)
c.*1204_*1212dup (n.*1204_*1212dup)
c.1757_1765dup (n.1757_1765dup)
c.1377_1385dup (p.Val461_Lys462insAsnGluVal)
c.1425_1433dup (p.Val477_Lys478insAsnGluVal)
c.1521_1529dup (p.Val509_Lys510insAsnGluVal)
c.1467_1475dup (p.Val491_Lys492insAsnGluVal)
c.1428_1436dup (p.Val478_Lys479insAsnGluVal)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738953G>ACA402175822ASXL3c.1552G>A (p.Val518Ile)
c.1549G>A (p.Val517Ile)
c.*673G>A (n.*673G>A)
c.*1208G>A (n.*1208G>A)
c.1761G>A (n.1761G>A)
c.1381G>A (p.Val461Ile)
c.1429G>A (p.Val477Ile)
c.1525G>A (p.Val509Ile)
c.1471G>A (p.Val491Ile)
c.1432G>A (p.Val478Ile)
dbSNP gnomAD v4
18g.33738953G>CCA402175823ASXL3c.1552G>C (p.Val518Leu)
c.1549G>C (p.Val517Leu)
c.*673G>C (n.*673G>C)
c.*1208G>C (n.*1208G>C)
c.1761G>C (n.1761G>C)
c.1381G>C (p.Val461Leu)
c.1429G>C (p.Val477Leu)
c.1525G>C (p.Val509Leu)
c.1471G>C (p.Val491Leu)
c.1432G>C (p.Val478Leu)
18g.33738953G>TCA402175821ASXL3c.1552G>T (p.Val518Phe)
c.1549G>T (p.Val517Phe)
c.*673G>T (n.*673G>T)
c.*1208G>T (n.*1208G>T)
c.1761G>T (n.1761G>T)
c.1381G>T (p.Val461Phe)
c.1429G>T (p.Val477Phe)
c.1525G>T (p.Val509Phe)
c.1471G>T (p.Val491Phe)
c.1432G>T (p.Val478Phe)
gnomAD v4
18g.33738954T>ACA402175824ASXL3c.1553T>A (p.Val518Asp)
c.1550T>A (p.Val517Asp)
c.*674T>A (n.*674T>A)
c.*1209T>A (n.*1209T>A)
c.1762T>A (n.1762T>A)
c.1382T>A (p.Val461Asp)
c.1430T>A (p.Val477Asp)
c.1526T>A (p.Val509Asp)
c.1472T>A (p.Val491Asp)
c.1433T>A (p.Val478Asp)
18g.33738954T>CCA402175825ASXL3c.1553T>C (p.Val518Ala)
c.1550T>C (p.Val517Ala)
c.*674T>C (n.*674T>C)
c.*1209T>C (n.*1209T>C)
c.1762T>C (n.1762T>C)
c.1382T>C (p.Val461Ala)
c.1430T>C (p.Val477Ala)
c.1526T>C (p.Val509Ala)
c.1472T>C (p.Val491Ala)
c.1433T>C (p.Val478Ala)
18g.33738954T>GCA402175826ASXL3c.1553T>G (p.Val518Gly)
c.1550T>G (p.Val517Gly)
c.*674T>G (n.*674T>G)
c.*1209T>G (n.*1209T>G)
c.1762T>G (n.1762T>G)
c.1382T>G (p.Val461Gly)
c.1430T>G (p.Val477Gly)
c.1526T>G (p.Val509Gly)
c.1472T>G (p.Val491Gly)
c.1433T>G (p.Val478Gly)
18g.33738955T>ACA503768473ASXL3c.1554T>A (p.Val518=)
c.1551T>A (p.Val517=)
c.*675T>A (n.*675T>A)
c.*1210T>A (n.*1210T>A)
c.1763T>A (n.1763T>A)
c.1383T>A (p.Val461=)
c.1431T>A (p.Val477=)
c.1527T>A (p.Val509=)
c.1473T>A (p.Val491=)
c.1434T>A (p.Val478=)
18g.33738955T>CCA503768474ASXL3c.1554T>C (p.Val518=)
c.1551T>C (p.Val517=)
c.*675T>C (n.*675T>C)
c.*1210T>C (n.*1210T>C)
c.1763T>C (n.1763T>C)
c.1383T>C (p.Val461=)
c.1431T>C (p.Val477=)
c.1527T>C (p.Val509=)
c.1473T>C (p.Val491=)
c.1434T>C (p.Val478=)
18g.33738955T>GCA503768475ASXL3c.1554T>G (p.Val518=)
c.1551T>G (p.Val517=)
c.*675T>G (n.*675T>G)
c.*1210T>G (n.*1210T>G)
c.1763T>G (n.1763T>G)
c.1383T>G (p.Val461=)
c.1431T>G (p.Val477=)
c.1527T>G (p.Val509=)
c.1473T>G (p.Val491=)
c.1434T>G (p.Val478=)
gnomAD v4
18g.33738956A>CCA402175827ASXL3c.1555A>C (p.Lys519Gln)
c.1552A>C (p.Lys518Gln)
c.*676A>C (n.*676A>C)
c.*1211A>C (n.*1211A>C)
c.1764A>C (n.1764A>C)
c.1384A>C (p.Lys462Gln)
c.1432A>C (p.Lys478Gln)
c.1528A>C (p.Lys510Gln)
c.1474A>C (p.Lys492Gln)
c.1435A>C (p.Lys479Gln)
18g.33738956A>GCA402175828ASXL3c.1555A>G (p.Lys519Glu)
c.1552A>G (p.Lys518Glu)
c.*676A>G (n.*676A>G)
c.*1211A>G (n.*1211A>G)
c.1764A>G (n.1764A>G)
c.1384A>G (p.Lys462Glu)
c.1432A>G (p.Lys478Glu)
c.1528A>G (p.Lys510Glu)
c.1474A>G (p.Lys492Glu)
c.1435A>G (p.Lys479Glu)
18g.33738956A>TCA402175829ASXL3c.1555A>T (p.Lys519Ter)
c.1552A>T (p.Lys518Ter)
c.*676A>T (n.*676A>T)
c.*1211A>T (n.*1211A>T)
c.1764A>T (n.1764A>T)
c.1384A>T (p.Lys462Ter)
c.1432A>T (p.Lys478Ter)
c.1528A>T (p.Lys510Ter)
c.1474A>T (p.Lys492Ter)
c.1435A>T (p.Lys479Ter)
18g.33738956_33738959delCA2825002679ASXL3c.1555_1558del (p.Lys519Ter)
c.1552_1555del (p.Lys518Ter)
c.*676_*679del (n.*676_*679del)
c.*1211_*1214del (n.*1211_*1214del)
c.1764_1767del (n.1764_1767del)
c.1384_1387del (p.Lys462Ter)
c.1432_1435del (p.Lys478Ter)
c.1528_1531del (p.Lys510Ter)
c.1474_1477del (p.Lys492Ter)
c.1435_1438del (p.Lys479Ter)
ClinVar
18g.33738957A>CCA402175832ASXL3c.1556A>C (p.Lys519Thr)
c.1553A>C (p.Lys518Thr)
c.*677A>C (n.*677A>C)
c.*1212A>C (n.*1212A>C)
c.1765A>C (n.1765A>C)
c.1385A>C (p.Lys462Thr)
c.1433A>C (p.Lys478Thr)
c.1529A>C (p.Lys510Thr)
c.1475A>C (p.Lys492Thr)
c.1436A>C (p.Lys479Thr)
18g.33738957A>GCA402175830ASXL3c.1556A>G (p.Lys519Arg)
c.1553A>G (p.Lys518Arg)
c.*677A>G (n.*677A>G)
c.*1212A>G (n.*1212A>G)
c.1765A>G (n.1765A>G)
c.1385A>G (p.Lys462Arg)
c.1433A>G (p.Lys478Arg)
c.1529A>G (p.Lys510Arg)
c.1475A>G (p.Lys492Arg)
c.1436A>G (p.Lys479Arg)
18g.33738957A>TCA402175831ASXL3c.1556A>T (p.Lys519Met)
c.1553A>T (p.Lys518Met)
c.*677A>T (n.*677A>T)
c.*1212A>T (n.*1212A>T)
c.1765A>T (n.1765A>T)
c.1385A>T (p.Lys462Met)
c.1433A>T (p.Lys478Met)
c.1529A>T (p.Lys510Met)
c.1475A>T (p.Lys492Met)
c.1436A>T (p.Lys479Met)
18g.33738958G>ACA503768482ASXL3c.1557G>A (p.Lys519=)
c.1554G>A (p.Lys518=)
c.*678G>A (n.*678G>A)
c.*1213G>A (n.*1213G>A)
c.1766G>A (n.1766G>A)
c.1386G>A (p.Lys462=)
c.1434G>A (p.Lys478=)
c.1530G>A (p.Lys510=)
c.1476G>A (p.Lys492=)
c.1437G>A (p.Lys479=)
18g.33738958G>CCA402175833ASXL3c.1557G>C (p.Lys519Asn)
c.1554G>C (p.Lys518Asn)
c.*678G>C (n.*678G>C)
c.*1213G>C (n.*1213G>C)
c.1766G>C (n.1766G>C)
c.1386G>C (p.Lys462Asn)
c.1434G>C (p.Lys478Asn)
c.1530G>C (p.Lys510Asn)
c.1476G>C (p.Lys492Asn)
c.1437G>C (p.Lys479Asn)
18g.33738958G>TCA402175834ASXL3c.1557G>T (p.Lys519Asn)
c.1554G>T (p.Lys518Asn)
c.*678G>T (n.*678G>T)
c.*1213G>T (n.*1213G>T)
c.1766G>T (n.1766G>T)
c.1386G>T (p.Lys462Asn)
c.1434G>T (p.Lys478Asn)
c.1530G>T (p.Lys510Asn)
c.1476G>T (p.Lys492Asn)
c.1437G>T (p.Lys479Asn)
18g.33738959A>CCA402175835ASXL3c.1558A>C (p.Ile520Leu)
c.1555A>C (p.Ile519Leu)
c.*679A>C (n.*679A>C)
c.*1214A>C (n.*1214A>C)
c.1767A>C (n.1767A>C)
c.1387A>C (p.Ile463Leu)
c.1435A>C (p.Ile479Leu)
c.1531A>C (p.Ile511Leu)
c.1477A>C (p.Ile493Leu)
c.1438A>C (p.Ile480Leu)
18g.33738959A>GCA402175836ASXL3c.1558A>G (p.Ile520Val)
c.1555A>G (p.Ile519Val)
c.*679A>G (n.*679A>G)
c.*1214A>G (n.*1214A>G)
c.1767A>G (n.1767A>G)
c.1387A>G (p.Ile463Val)
c.1435A>G (p.Ile479Val)
c.1531A>G (p.Ile511Val)
c.1477A>G (p.Ile493Val)
c.1438A>G (p.Ile480Val)
dbSNP gnomAD v4
18g.33738959A>TCA402175837ASXL3c.1558A>T (p.Ile520Leu)
c.1555A>T (p.Ile519Leu)
c.*679A>T (n.*679A>T)
c.*1214A>T (n.*1214A>T)
c.1767A>T (n.1767A>T)
c.1387A>T (p.Ile463Leu)
c.1435A>T (p.Ile479Leu)
c.1531A>T (p.Ile511Leu)
c.1477A>T (p.Ile493Leu)
c.1438A>T (p.Ile480Leu)
18g.33738960T>ACA402175838ASXL3c.1559T>A (p.Ile520Lys)
c.1556T>A (p.Ile519Lys)
c.*680T>A (n.*680T>A)
c.*1215T>A (n.*1215T>A)
c.1768T>A (n.1768T>A)
c.1388T>A (p.Ile463Lys)
c.1436T>A (p.Ile479Lys)
c.1532T>A (p.Ile511Lys)
c.1478T>A (p.Ile493Lys)
c.1439T>A (p.Ile480Lys)
18g.33738960T>CCA8933770ASXL3c.1559T>C (p.Ile520Thr)
c.1556T>C (p.Ile519Thr)
c.*680T>C (n.*680T>C)
c.*1215T>C (n.*1215T>C)
c.1768T>C (n.1768T>C)
c.1388T>C (p.Ile463Thr)
c.1436T>C (p.Ile479Thr)
c.1532T>C (p.Ile511Thr)
c.1478T>C (p.Ile493Thr)
c.1439T>C (p.Ile480Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738960T>GCA402175839ASXL3c.1559T>G (p.Ile520Arg)
c.1556T>G (p.Ile519Arg)
c.*680T>G (n.*680T>G)
c.*1215T>G (n.*1215T>G)
c.1768T>G (n.1768T>G)
c.1388T>G (p.Ile463Arg)
c.1436T>G (p.Ile479Arg)
c.1532T>G (p.Ile511Arg)
c.1478T>G (p.Ile493Arg)
c.1439T>G (p.Ile480Arg)
18g.33738960T=CA2294855757ASXL3c.1559T= (p.Ile520=)
c.1556T= (p.Ile519=)
c.*680T= (n.*680T=)
c.*1215T= (n.*1215T=)
c.1768T= (n.1768T=)
c.1388T= (p.Ile463=)
c.1436T= (p.Ile479=)
c.1532T= (p.Ile511=)
c.1478T= (p.Ile493=)
c.1439T= (p.Ile480=)
18g.33738961A>CCA503768487ASXL3c.1560A>C (p.Ile520=)
c.1557A>C (p.Ile519=)
c.*681A>C (n.*681A>C)
c.*1216A>C (n.*1216A>C)
c.1769A>C (n.1769A>C)
c.1389A>C (p.Ile463=)
c.1437A>C (p.Ile479=)
c.1533A>C (p.Ile511=)
c.1479A>C (p.Ile493=)
c.1440A>C (p.Ile480=)
18g.33738961A>GCA402175840ASXL3c.1560A>G (p.Ile520Met)
c.1557A>G (p.Ile519Met)
c.*681A>G (n.*681A>G)
c.*1216A>G (n.*1216A>G)
c.1769A>G (n.1769A>G)
c.1389A>G (p.Ile463Met)
c.1437A>G (p.Ile479Met)
c.1533A>G (p.Ile511Met)
c.1479A>G (p.Ile493Met)
c.1440A>G (p.Ile480Met)
18g.33738961A>TCA503768488ASXL3c.1560A>T (p.Ile520=)
c.1557A>T (p.Ile519=)
c.*681A>T (n.*681A>T)
c.*1216A>T (n.*1216A>T)
c.1769A>T (n.1769A>T)
c.1389A>T (p.Ile463=)
c.1437A>T (p.Ile479=)
c.1533A>T (p.Ile511=)
c.1479A>T (p.Ile493=)
c.1440A>T (p.Ile480=)
18g.33738962G>ACA402175841ASXL3c.1561G>A (p.Glu521Lys)
c.1558G>A (p.Glu520Lys)
c.*682G>A (n.*682G>A)
c.*1217G>A (n.*1217G>A)
c.1770G>A (n.1770G>A)
c.1390G>A (p.Glu464Lys)
c.1438G>A (p.Glu480Lys)
c.1534G>A (p.Glu512Lys)
c.1480G>A (p.Glu494Lys)
c.1441G>A (p.Glu481Lys)
COSMIC COSMIC
18g.33738962G>CCA402175842ASXL3c.1561G>C (p.Glu521Gln)
c.1558G>C (p.Glu520Gln)
c.*682G>C (n.*682G>C)
c.*1217G>C (n.*1217G>C)
c.1770G>C (n.1770G>C)
c.1390G>C (p.Glu464Gln)
c.1438G>C (p.Glu480Gln)
c.1534G>C (p.Glu512Gln)
c.1480G>C (p.Glu494Gln)
c.1441G>C (p.Glu481Gln)
18g.33738962G>TCA402175843ASXL3c.1561G>T (p.Glu521Ter)
c.1558G>T (p.Glu520Ter)
c.*682G>T (n.*682G>T)
c.*1217G>T (n.*1217G>T)
c.1770G>T (n.1770G>T)
c.1390G>T (p.Glu464Ter)
c.1438G>T (p.Glu480Ter)
c.1534G>T (p.Glu512Ter)
c.1480G>T (p.Glu494Ter)
c.1441G>T (p.Glu481Ter)
18g.33738963A>CCA402175844ASXL3c.1562A>C (p.Glu521Ala)
c.1559A>C (p.Glu520Ala)
c.*683A>C (n.*683A>C)
c.*1218A>C (n.*1218A>C)
c.1771A>C (n.1771A>C)
c.1391A>C (p.Glu464Ala)
c.1439A>C (p.Glu480Ala)
c.1535A>C (p.Glu512Ala)
c.1481A>C (p.Glu494Ala)
c.1442A>C (p.Glu481Ala)
18g.33738963A>GCA402175845ASXL3c.1562A>G (p.Glu521Gly)
c.1559A>G (p.Glu520Gly)
c.*683A>G (n.*683A>G)
c.*1218A>G (n.*1218A>G)
c.1771A>G (n.1771A>G)
c.1391A>G (p.Glu464Gly)
c.1439A>G (p.Glu480Gly)
c.1535A>G (p.Glu512Gly)
c.1481A>G (p.Glu494Gly)
c.1442A>G (p.Glu481Gly)
18g.33738963A>TCA402175846ASXL3c.1562A>T (p.Glu521Val)
c.1559A>T (p.Glu520Val)
c.*683A>T (n.*683A>T)
c.*1218A>T (n.*1218A>T)
c.1771A>T (n.1771A>T)
c.1391A>T (p.Glu464Val)
c.1439A>T (p.Glu480Val)
c.1535A>T (p.Glu512Val)
c.1481A>T (p.Glu494Val)
c.1442A>T (p.Glu481Val)
18g.33738964A>CCA402175847ASXL3c.1563A>C (p.Glu521Asp)
c.1560A>C (p.Glu520Asp)
c.*684A>C (n.*684A>C)
c.*1219A>C (n.*1219A>C)
c.1772A>C (n.1772A>C)
c.1392A>C (p.Glu464Asp)
c.1440A>C (p.Glu480Asp)
c.1536A>C (p.Glu512Asp)
c.1482A>C (p.Glu494Asp)
c.1443A>C (p.Glu481Asp)
18g.33738964A>GCA503768492ASXL3c.1563A>G (p.Glu521=)
c.1560A>G (p.Glu520=)
c.*684A>G (n.*684A>G)
c.*1219A>G (n.*1219A>G)
c.1772A>G (n.1772A>G)
c.1392A>G (p.Glu464=)
c.1440A>G (p.Glu480=)
c.1536A>G (p.Glu512=)
c.1482A>G (p.Glu494=)
c.1443A>G (p.Glu481=)
18g.33738964A>TCA402175848ASXL3c.1563A>T (p.Glu521Asp)
c.1560A>T (p.Glu520Asp)
c.*684A>T (n.*684A>T)
c.*1219A>T (n.*1219A>T)
c.1772A>T (n.1772A>T)
c.1392A>T (p.Glu464Asp)
c.1440A>T (p.Glu480Asp)
c.1536A>T (p.Glu512Asp)
c.1482A>T (p.Glu494Asp)
c.1443A>T (p.Glu481Asp)
18g.33738965G>ACA402175849ASXL3c.1564G>A (p.Gly522Arg)
c.1561G>A (p.Gly521Arg)
c.*685G>A (n.*685G>A)
c.*1220G>A (n.*1220G>A)
c.1773G>A (n.1773G>A)
c.1393G>A (p.Gly465Arg)
c.1441G>A (p.Gly481Arg)
c.1537G>A (p.Gly513Arg)
c.1483G>A (p.Gly495Arg)
c.1444G>A (p.Gly482Arg)
dbSNP gnomAD v3 gnomAD v4
18g.33738965G>CCA402175850ASXL3c.1564G>C (p.Gly522Arg)
c.1561G>C (p.Gly521Arg)
c.*685G>C (n.*685G>C)
c.*1220G>C (n.*1220G>C)
c.1773G>C (n.1773G>C)
c.1393G>C (p.Gly465Arg)
c.1441G>C (p.Gly481Arg)
c.1537G>C (p.Gly513Arg)
c.1483G>C (p.Gly495Arg)
c.1444G>C (p.Gly482Arg)
18g.33738965G=CA2294855758ASXL3c.1564G= (p.Gly522=)
c.1561G= (p.Gly521=)
c.*685G= (n.*685G=)
c.*1220G= (n.*1220G=)
c.1773G= (n.1773G=)
c.1393G= (p.Gly465=)
c.1441G= (p.Gly481=)
c.1537G= (p.Gly513=)
c.1483G= (p.Gly495=)
c.1444G= (p.Gly482=)
18g.33738965G>TCA402175851ASXL3c.1564G>T (p.Gly522Trp)
c.1561G>T (p.Gly521Trp)
c.*685G>T (n.*685G>T)
c.*1220G>T (n.*1220G>T)
c.1773G>T (n.1773G>T)
c.1393G>T (p.Gly465Trp)
c.1441G>T (p.Gly481Trp)
c.1537G>T (p.Gly513Trp)
c.1483G>T (p.Gly495Trp)
c.1444G>T (p.Gly482Trp)
18g.33738966G>ACA402175853ASXL3c.1565G>A (p.Gly522Glu)
c.1562G>A (p.Gly521Glu)
c.*686G>A (n.*686G>A)
c.*1221G>A (n.*1221G>A)
c.1774G>A (n.1774G>A)
c.1394G>A (p.Gly465Glu)
c.1442G>A (p.Gly481Glu)
c.1538G>A (p.Gly513Glu)
c.1484G>A (p.Gly495Glu)
c.1445G>A (p.Gly482Glu)
dbSNP gnomAD v3 gnomAD v4
18g.33738966G>CCA402175854ASXL3c.1565G>C (p.Gly522Ala)
c.1562G>C (p.Gly521Ala)
c.*686G>C (n.*686G>C)
c.*1221G>C (n.*1221G>C)
c.1774G>C (n.1774G>C)
c.1394G>C (p.Gly465Ala)
c.1442G>C (p.Gly481Ala)
c.1538G>C (p.Gly513Ala)
c.1484G>C (p.Gly495Ala)
c.1445G>C (p.Gly482Ala)
gnomAD v4
18g.33738966G>TCA402175852ASXL3c.1565G>T (p.Gly522Val)
c.1562G>T (p.Gly521Val)
c.*686G>T (n.*686G>T)
c.*1221G>T (n.*1221G>T)
c.1774G>T (n.1774G>T)
c.1394G>T (p.Gly465Val)
c.1442G>T (p.Gly481Val)
c.1538G>T (p.Gly513Val)
c.1484G>T (p.Gly495Val)
c.1445G>T (p.Gly482Val)
18g.33738967G>ACA297786776ASXL3c.1566G>A (p.Gly522=)
c.1563G>A (p.Gly521=)
c.*687G>A (n.*687G>A)
c.*1222G>A (n.*1222G>A)
c.1775G>A (n.1775G>A)
c.1395G>A (p.Gly465=)
c.1443G>A (p.Gly481=)
c.1539G>A (p.Gly513=)
c.1485G>A (p.Gly495=)
c.1446G>A (p.Gly482=)
dbSNP
18g.33738967G>CCA503768616ASXL3c.1566G>C (p.Gly522=)
c.1563G>C (p.Gly521=)
c.*687G>C (n.*687G>C)
c.*1222G>C (n.*1222G>C)
c.1775G>C (n.1775G>C)
c.1395G>C (p.Gly465=)
c.1443G>C (p.Gly481=)
c.1539G>C (p.Gly513=)
c.1485G>C (p.Gly495=)
c.1446G>C (p.Gly482=)
18g.33738967G=CA2294855759ASXL3c.1566G= (p.Gly522=)
c.1563G= (p.Gly521=)
c.*687G= (n.*687G=)
c.*1222G= (n.*1222G=)
c.1775G= (n.1775G=)
c.1395G= (p.Gly465=)
c.1443G= (p.Gly481=)
c.1539G= (p.Gly513=)
c.1485G= (p.Gly495=)
c.1446G= (p.Gly482=)
18g.33738967G>TCA503768615ASXL3c.1566G>T (p.Gly522=)
c.1563G>T (p.Gly521=)
c.*687G>T (n.*687G>T)
c.*1222G>T (n.*1222G>T)
c.1775G>T (n.1775G>T)
c.1395G>T (p.Gly465=)
c.1443G>T (p.Gly481=)
c.1539G>T (p.Gly513=)
c.1485G>T (p.Gly495=)
c.1446G>T (p.Gly482=)
18g.33738968A>CCA402175855ASXL3c.1567A>C (p.Lys523Gln)
c.1564A>C (p.Lys522Gln)
c.*688A>C (n.*688A>C)
c.*1223A>C (n.*1223A>C)
c.1776A>C (n.1776A>C)
c.1396A>C (p.Lys466Gln)
c.1444A>C (p.Lys482Gln)
c.1540A>C (p.Lys514Gln)
c.1486A>C (p.Lys496Gln)
c.1447A>C (p.Lys483Gln)
18g.33738968A>GCA402175856ASXL3c.1567A>G (p.Lys523Glu)
c.1564A>G (p.Lys522Glu)
c.*688A>G (n.*688A>G)
c.*1223A>G (n.*1223A>G)
c.1776A>G (n.1776A>G)
c.1396A>G (p.Lys466Glu)
c.1444A>G (p.Lys482Glu)
c.1540A>G (p.Lys514Glu)
c.1486A>G (p.Lys496Glu)
c.1447A>G (p.Lys483Glu)
18g.33738968A>TCA402175857ASXL3c.1567A>T (p.Lys523Ter)
c.1564A>T (p.Lys522Ter)
c.*688A>T (n.*688A>T)
c.*1223A>T (n.*1223A>T)
c.1776A>T (n.1776A>T)
c.1396A>T (p.Lys466Ter)
c.1444A>T (p.Lys482Ter)
c.1540A>T (p.Lys514Ter)
c.1486A>T (p.Lys496Ter)
c.1447A>T (p.Lys483Ter)
18g.33738969A>CCA402175858ASXL3c.1568A>C (p.Lys523Thr)
c.1565A>C (p.Lys522Thr)
c.*689A>C (n.*689A>C)
c.*1224A>C (n.*1224A>C)
c.1777A>C (n.1777A>C)
c.1397A>C (p.Lys466Thr)
c.1445A>C (p.Lys482Thr)
c.1541A>C (p.Lys514Thr)
c.1487A>C (p.Lys496Thr)
c.1448A>C (p.Lys483Thr)
COSMIC COSMIC
18g.33738969A>GCA402175859ASXL3c.1568A>G (p.Lys523Arg)
c.1565A>G (p.Lys522Arg)
c.*689A>G (n.*689A>G)
c.*1224A>G (n.*1224A>G)
c.1777A>G (n.1777A>G)
c.1397A>G (p.Lys466Arg)
c.1445A>G (p.Lys482Arg)
c.1541A>G (p.Lys514Arg)
c.1487A>G (p.Lys496Arg)
c.1448A>G (p.Lys483Arg)
gnomAD v4
18g.33738969A>TCA402175860ASXL3c.1568A>T (p.Lys523Met)
c.1565A>T (p.Lys522Met)
c.*689A>T (n.*689A>T)
c.*1224A>T (n.*1224A>T)
c.1777A>T (n.1777A>T)
c.1397A>T (p.Lys466Met)
c.1445A>T (p.Lys482Met)
c.1541A>T (p.Lys514Met)
c.1487A>T (p.Lys496Met)
c.1448A>T (p.Lys483Met)
18g.33738970G>ACA503768618ASXL3c.1569G>A (p.Lys523=)
c.1566G>A (p.Lys522=)
c.*690G>A (n.*690G>A)
c.*1225G>A (n.*1225G>A)
c.1778G>A (n.1778G>A)
c.1398G>A (p.Lys466=)
c.1446G>A (p.Lys482=)
c.1542G>A (p.Lys514=)
c.1488G>A (p.Lys496=)
c.1449G>A (p.Lys483=)
gnomAD v4
18g.33738970G>CCA402175862ASXL3c.1569G>C (p.Lys523Asn)
c.1566G>C (p.Lys522Asn)
c.*690G>C (n.*690G>C)
c.*1225G>C (n.*1225G>C)
c.1778G>C (n.1778G>C)
c.1398G>C (p.Lys466Asn)
c.1446G>C (p.Lys482Asn)
c.1542G>C (p.Lys514Asn)
c.1488G>C (p.Lys496Asn)
c.1449G>C (p.Lys483Asn)
18g.33738970G=CA2294855760ASXL3c.1569G= (p.Lys523=)
c.1566G= (p.Lys522=)
c.*690G= (n.*690G=)
c.*1225G= (n.*1225G=)
c.1778G= (n.1778G=)
c.1398G= (p.Lys466=)
c.1446G= (p.Lys482=)
c.1542G= (p.Lys514=)
c.1488G= (p.Lys496=)
c.1449G= (p.Lys483=)
18g.33738970G>TCA402175861ASXL3c.1569G>T (p.Lys523Asn)
c.1566G>T (p.Lys522Asn)
c.*690G>T (n.*690G>T)
c.*1225G>T (n.*1225G>T)
c.1778G>T (n.1778G>T)
c.1398G>T (p.Lys466Asn)
c.1446G>T (p.Lys482Asn)
c.1542G>T (p.Lys514Asn)
c.1488G>T (p.Lys496Asn)
c.1449G>T (p.Lys483Asn)
dbSNP
18g.33738971T>ACA402175863ASXL3c.1570T>A (p.Ser524Thr)
c.1567T>A (p.Ser523Thr)
c.*691T>A (n.*691T>A)
c.*1226T>A (n.*1226T>A)
c.1779T>A (n.1779T>A)
c.1399T>A (p.Ser467Thr)
c.1447T>A (p.Ser483Thr)
c.1543T>A (p.Ser515Thr)
c.1489T>A (p.Ser497Thr)
c.1450T>A (p.Ser484Thr)
18g.33738971T>CCA402175864ASXL3c.1570T>C (p.Ser524Pro)
c.1567T>C (p.Ser523Pro)
c.*691T>C (n.*691T>C)
c.*1226T>C (n.*1226T>C)
c.1779T>C (n.1779T>C)
c.1399T>C (p.Ser467Pro)
c.1447T>C (p.Ser483Pro)
c.1543T>C (p.Ser515Pro)
c.1489T>C (p.Ser497Pro)
c.1450T>C (p.Ser484Pro)
18g.33738971T>GCA402175865ASXL3c.1570T>G (p.Ser524Ala)
c.1567T>G (p.Ser523Ala)
c.*691T>G (n.*691T>G)
c.*1226T>G (n.*1226T>G)
c.1779T>G (n.1779T>G)
c.1399T>G (p.Ser467Ala)
c.1447T>G (p.Ser483Ala)
c.1543T>G (p.Ser515Ala)
c.1489T>G (p.Ser497Ala)
c.1450T>G (p.Ser484Ala)
18g.33738972C>ACA402175866ASXL3c.1571C>A (p.Ser524Ter)
c.1568C>A (p.Ser523Ter)
c.*692C>A (n.*692C>A)
c.*1227C>A (n.*1227C>A)
c.1780C>A (n.1780C>A)
c.1400C>A (p.Ser467Ter)
c.1448C>A (p.Ser483Ter)
c.1544C>A (p.Ser515Ter)
c.1490C>A (p.Ser497Ter)
c.1451C>A (p.Ser484Ter)
18g.33738972C=CA2294855761ASXL3c.1571C= (p.Ser524=)
c.1568C= (p.Ser523=)
c.*692C= (n.*692C=)
c.*1227C= (n.*1227C=)
c.1780C= (n.1780C=)
c.1400C= (p.Ser467=)
c.1448C= (p.Ser483=)
c.1544C= (p.Ser515=)
c.1490C= (p.Ser497=)
c.1451C= (p.Ser484=)
18g.33738972C>GCA402175867ASXL3c.1571C>G (p.Ser524Ter)
c.1568C>G (p.Ser523Ter)
c.*692C>G (n.*692C>G)
c.*1227C>G (n.*1227C>G)
c.1780C>G (n.1780C>G)
c.1400C>G (p.Ser467Ter)
c.1448C>G (p.Ser483Ter)
c.1544C>G (p.Ser515Ter)
c.1490C>G (p.Ser497Ter)
c.1451C>G (p.Ser484Ter)
18g.33738972C>TCA402175868ASXL3c.1571C>T (p.Ser524Leu)
c.1568C>T (p.Ser523Leu)
c.*692C>T (n.*692C>T)
c.*1227C>T (n.*1227C>T)
c.1780C>T (n.1780C>T)
c.1400C>T (p.Ser467Leu)
c.1448C>T (p.Ser483Leu)
c.1544C>T (p.Ser515Leu)
c.1490C>T (p.Ser497Leu)
c.1451C>T (p.Ser484Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.33738973A>CCA503768619ASXL3c.1572A>C (p.Ser524=)
c.1569A>C (p.Ser523=)
c.*693A>C (n.*693A>C)
c.*1228A>C (n.*1228A>C)
c.1781A>C (n.1781A>C)
c.1401A>C (p.Ser467=)
c.1449A>C (p.Ser483=)
c.1545A>C (p.Ser515=)
c.1491A>C (p.Ser497=)
c.1452A>C (p.Ser484=)
18g.33738973A>GCA503768620ASXL3c.1572A>G (p.Ser524=)
c.1569A>G (p.Ser523=)
c.*693A>G (n.*693A>G)
c.*1228A>G (n.*1228A>G)
c.1781A>G (n.1781A>G)
c.1401A>G (p.Ser467=)
c.1449A>G (p.Ser483=)
c.1545A>G (p.Ser515=)
c.1491A>G (p.Ser497=)
c.1452A>G (p.Ser484=)
COSMIC COSMIC
18g.33738973A>TCA503768621ASXL3c.1572A>T (p.Ser524=)
c.1569A>T (p.Ser523=)
c.*693A>T (n.*693A>T)
c.*1228A>T (n.*1228A>T)
c.1781A>T (n.1781A>T)
c.1401A>T (p.Ser467=)
c.1449A>T (p.Ser483=)
c.1545A>T (p.Ser515=)
c.1491A>T (p.Ser497=)
c.1452A>T (p.Ser484=)
18g.33738974G>ACA402175870ASXL3c.1573G>A (p.Glu525Lys)
c.1570G>A (p.Glu524Lys)
c.*694G>A (n.*694G>A)
c.*1229G>A (n.*1229G>A)
c.1782G>A (n.1782G>A)
c.1402G>A (p.Glu468Lys)
c.1450G>A (p.Glu484Lys)
c.1546G>A (p.Glu516Lys)
c.1492G>A (p.Glu498Lys)
c.1453G>A (p.Glu485Lys)
COSMIC COSMIC
18g.33738974G>CCA8933771ASXL3c.1573G>C (p.Glu525Gln)
c.1570G>C (p.Glu524Gln)
c.*694G>C (n.*694G>C)
c.*1229G>C (n.*1229G>C)
c.1782G>C (n.1782G>C)
c.1402G>C (p.Glu468Gln)
c.1450G>C (p.Glu484Gln)
c.1546G>C (p.Glu516Gln)
c.1492G>C (p.Glu498Gln)
c.1453G>C (p.Glu485Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738974G=CA2294855762ASXL3c.1573G= (p.Glu525=)
c.1570G= (p.Glu524=)
c.*694G= (n.*694G=)
c.*1229G= (n.*1229G=)
c.1782G= (n.1782G=)
c.1402G= (p.Glu468=)
c.1450G= (p.Glu484=)
c.1546G= (p.Glu516=)
c.1492G= (p.Glu498=)
c.1453G= (p.Glu485=)
18g.33738974G>TCA402175869ASXL3c.1573G>T (p.Glu525Ter)
c.1570G>T (p.Glu524Ter)
c.*694G>T (n.*694G>T)
c.*1229G>T (n.*1229G>T)
c.1782G>T (n.1782G>T)
c.1402G>T (p.Glu468Ter)
c.1450G>T (p.Glu484Ter)
c.1546G>T (p.Glu516Ter)
c.1492G>T (p.Glu498Ter)
c.1453G>T (p.Glu485Ter)
18g.33738975A>CCA402175871ASXL3c.1574A>C (p.Glu525Ala)
c.1571A>C (p.Glu524Ala)
c.*695A>C (n.*695A>C)
c.*1230A>C (n.*1230A>C)
c.1783A>C (n.1783A>C)
c.1403A>C (p.Glu468Ala)
c.1451A>C (p.Glu484Ala)
c.1547A>C (p.Glu516Ala)
c.1493A>C (p.Glu498Ala)
c.1454A>C (p.Glu485Ala)
gnomAD v4
18g.33738975A>GCA402175872ASXL3c.1574A>G (p.Glu525Gly)
c.1571A>G (p.Glu524Gly)
c.*695A>G (n.*695A>G)
c.*1230A>G (n.*1230A>G)
c.1783A>G (n.1783A>G)
c.1403A>G (p.Glu468Gly)
c.1451A>G (p.Glu484Gly)
c.1547A>G (p.Glu516Gly)
c.1493A>G (p.Glu498Gly)
c.1454A>G (p.Glu485Gly)
18g.33738975A>TCA402175873ASXL3c.1574A>T (p.Glu525Val)
c.1571A>T (p.Glu524Val)
c.*695A>T (n.*695A>T)
c.*1230A>T (n.*1230A>T)
c.1783A>T (n.1783A>T)
c.1403A>T (p.Glu468Val)
c.1451A>T (p.Glu484Val)
c.1547A>T (p.Glu516Val)
c.1493A>T (p.Glu498Val)
c.1454A>T (p.Glu485Val)
18g.33738976A>CCA402175874ASXL3c.1575A>C (p.Glu525Asp)
c.1572A>C (p.Glu524Asp)
c.*696A>C (n.*696A>C)
c.*1231A>C (n.*1231A>C)
c.1784A>C (n.1784A>C)
c.1404A>C (p.Glu468Asp)
c.1452A>C (p.Glu484Asp)
c.1548A>C (p.Glu516Asp)
c.1494A>C (p.Glu498Asp)
c.1455A>C (p.Glu485Asp)
18g.33738976A>GCA503768624ASXL3c.1575A>G (p.Glu525=)
c.1572A>G (p.Glu524=)
c.*696A>G (n.*696A>G)
c.*1231A>G (n.*1231A>G)
c.1784A>G (n.1784A>G)
c.1404A>G (p.Glu468=)
c.1452A>G (p.Glu484=)
c.1548A>G (p.Glu516=)
c.1494A>G (p.Glu498=)
c.1455A>G (p.Glu485=)
18g.33738976A>TCA402175875ASXL3c.1575A>T (p.Glu525Asp)
c.1572A>T (p.Glu524Asp)
c.*696A>T (n.*696A>T)
c.*1231A>T (n.*1231A>T)
c.1784A>T (n.1784A>T)
c.1404A>T (p.Glu468Asp)
c.1452A>T (p.Glu484Asp)
c.1548A>T (p.Glu516Asp)
c.1494A>T (p.Glu498Asp)
c.1455A>T (p.Glu485Asp)
18g.33738977T>ACA402175878ASXL3c.1576T>A (p.Ser526Thr)
c.1573T>A (p.Ser525Thr)
c.*697T>A (n.*697T>A)
c.*1232T>A (n.*1232T>A)
c.1785T>A (n.1785T>A)
c.1405T>A (p.Ser469Thr)
c.1453T>A (p.Ser485Thr)
c.1549T>A (p.Ser517Thr)
c.1495T>A (p.Ser499Thr)
c.1456T>A (p.Ser486Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738977T>CCA402175877ASXL3c.1576T>C (p.Ser526Pro)
c.1573T>C (p.Ser525Pro)
c.*697T>C (n.*697T>C)
c.*1232T>C (n.*1232T>C)
c.1785T>C (n.1785T>C)
c.1405T>C (p.Ser469Pro)
c.1453T>C (p.Ser485Pro)
c.1549T>C (p.Ser517Pro)
c.1495T>C (p.Ser499Pro)
c.1456T>C (p.Ser486Pro)
18g.33738977T>GCA402175876ASXL3c.1576T>G (p.Ser526Ala)
c.1573T>G (p.Ser525Ala)
c.*697T>G (n.*697T>G)
c.*1232T>G (n.*1232T>G)
c.1785T>G (n.1785T>G)
c.1405T>G (p.Ser469Ala)
c.1453T>G (p.Ser485Ala)
c.1549T>G (p.Ser517Ala)
c.1495T>G (p.Ser499Ala)
c.1456T>G (p.Ser486Ala)
18g.33738977T=CA2294855763ASXL3c.1576T= (p.Ser526=)
c.1573T= (p.Ser525=)
c.*697T= (n.*697T=)
c.*1232T= (n.*1232T=)
c.1785T= (n.1785T=)
c.1405T= (p.Ser469=)
c.1453T= (p.Ser485=)
c.1549T= (p.Ser517=)
c.1495T= (p.Ser499=)
c.1456T= (p.Ser486=)
18g.33738978C>ACA402175879ASXL3c.1577C>A (p.Ser526Ter)
c.1574C>A (p.Ser525Ter)
c.*698C>A (n.*698C>A)
c.*1233C>A (n.*1233C>A)
c.1786C>A (n.1786C>A)
c.1406C>A (p.Ser469Ter)
c.1454C>A (p.Ser485Ter)
c.1550C>A (p.Ser517Ter)
c.1496C>A (p.Ser499Ter)
c.1457C>A (p.Ser486Ter)
18g.33738978C>GCA402175880ASXL3c.1577C>G (p.Ser526Ter)
c.1574C>G (p.Ser525Ter)
c.*698C>G (n.*698C>G)
c.*1233C>G (n.*1233C>G)
c.1786C>G (n.1786C>G)
c.1406C>G (p.Ser469Ter)
c.1454C>G (p.Ser485Ter)
c.1550C>G (p.Ser517Ter)
c.1496C>G (p.Ser499Ter)
c.1457C>G (p.Ser486Ter)
18g.33738978C>TCA402175881ASXL3c.1577C>T (p.Ser526Leu)
c.1574C>T (p.Ser525Leu)
c.*698C>T (n.*698C>T)
c.*1233C>T (n.*1233C>T)
c.1786C>T (n.1786C>T)
c.1406C>T (p.Ser469Leu)
c.1454C>T (p.Ser485Leu)
c.1550C>T (p.Ser517Leu)
c.1496C>T (p.Ser499Leu)
c.1457C>T (p.Ser486Leu)
COSMIC COSMIC
18g.33738979A>CCA503768634ASXL3c.1578A>C (p.Ser526=)
c.1575A>C (p.Ser525=)
c.*699A>C (n.*699A>C)
c.*1234A>C (n.*1234A>C)
c.1787A>C (n.1787A>C)
c.1407A>C (p.Ser469=)
c.1455A>C (p.Ser485=)
c.1551A>C (p.Ser517=)
c.1497A>C (p.Ser499=)
c.1458A>C (p.Ser486=)
18g.33738979A>GCA503768635ASXL3c.1578A>G (p.Ser526=)
c.1575A>G (p.Ser525=)
c.*699A>G (n.*699A>G)
c.*1234A>G (n.*1234A>G)
c.1787A>G (n.1787A>G)
c.1407A>G (p.Ser469=)
c.1455A>G (p.Ser485=)
c.1551A>G (p.Ser517=)
c.1497A>G (p.Ser499=)
c.1458A>G (p.Ser486=)
18g.33738979A>TCA503768636ASXL3c.1578A>T (p.Ser526=)
c.1575A>T (p.Ser525=)
c.*699A>T (n.*699A>T)
c.*1234A>T (n.*1234A>T)
c.1787A>T (n.1787A>T)
c.1407A>T (p.Ser469=)
c.1455A>T (p.Ser485=)
c.1551A>T (p.Ser517=)
c.1497A>T (p.Ser499=)
c.1458A>T (p.Ser486=)
18g.33738979_33738980delinsACCA2294855764ASXL3c.1578_1579delinsAC (p.Ser526=)
c.1575_1576delinsAC (p.Ser525=)
c.*699_*700delinsAC (n.*699_*700delinsAC)
c.*1234_*1235delinsAC (n.*1234_*1235delinsAC)
c.1787_1788delinsAC (n.1787_1788delinsAC)
c.1407_1408delinsAC (p.Ser469=)
c.1455_1456delinsAC (p.Ser485=)
c.1551_1552delinsAC (p.Ser517=)
c.1497_1498delinsAC (p.Ser499=)
c.1458_1459delinsAC (p.Ser486=)
18g.33738980C>ACA8933772ASXL3c.1579C>A (p.Pro527Thr)
c.1576C>A (p.Pro526Thr)
c.*700C>A (n.*700C>A)
c.*1235C>A (n.*1235C>A)
c.1788C>A (n.1788C>A)
c.1408C>A (p.Pro470Thr)
c.1456C>A (p.Pro486Thr)
c.1552C>A (p.Pro518Thr)
c.1498C>A (p.Pro500Thr)
c.1459C>A (p.Pro487Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738980C=CA2294855765ASXL3c.1579C= (p.Pro527=)
c.1576C= (p.Pro526=)
c.*700C= (n.*700C=)
c.*1235C= (n.*1235C=)
c.1788C= (n.1788C=)
c.1408C= (p.Pro470=)
c.1456C= (p.Pro486=)
c.1552C= (p.Pro518=)
c.1498C= (p.Pro500=)
c.1459C= (p.Pro487=)
18g.33738980C>GCA402175882ASXL3c.1579C>G (p.Pro527Ala)
c.1576C>G (p.Pro526Ala)
c.*700C>G (n.*700C>G)
c.*1235C>G (n.*1235C>G)
c.1788C>G (n.1788C>G)
c.1408C>G (p.Pro470Ala)
c.1456C>G (p.Pro486Ala)
c.1552C>G (p.Pro518Ala)
c.1498C>G (p.Pro500Ala)
c.1459C>G (p.Pro487Ala)
18g.33738980C>TCA402175883ASXL3c.1579C>T (p.Pro527Ser)
c.1576C>T (p.Pro526Ser)
c.*700C>T (n.*700C>T)
c.*1235C>T (n.*1235C>T)
c.1788C>T (n.1788C>T)
c.1408C>T (p.Pro470Ser)
c.1456C>T (p.Pro486Ser)
c.1552C>T (p.Pro518Ser)
c.1498C>T (p.Pro500Ser)
c.1459C>T (p.Pro487Ser)
18g.33738983dupCA1139666020ASXL3c.1582dup (p.Gln528ProfsTer15)
c.1579dup (p.Gln527ProfsTer15)
c.*703dup (n.*703dup)
c.*1238dup (n.*1238dup)
c.1791dup (n.1791dup)
c.1411dup (p.Gln471ProfsTer15)
c.1459dup (p.Gln487ProfsTer15)
c.1555dup (p.Gln519ProfsTer15)
c.1501dup (p.Gln501ProfsTer15)
c.1462dup (p.Gln488ProfsTer15)
ClinVar dbSNP
18g.33738983delCA915951349ASXL3c.1582del (p.Gln528ArgfsTer4)
c.1579del (p.Gln527ArgfsTer4)
c.*703del (n.*703del)
c.*1238del (n.*1238del)
c.1791del (n.1791del)
c.1411del (p.Gln471ArgfsTer4)
c.1459del (p.Gln487ArgfsTer4)
c.1555del (p.Gln519ArgfsTer4)
c.1501del (p.Gln501ArgfsTer4)
c.1462del (p.Gln488ArgfsTer4)
ClinVar dbSNP
18g.33738981C>ACA402175884ASXL3c.1580C>A (p.Pro527His)
c.1577C>A (p.Pro526His)
c.*701C>A (n.*701C>A)
c.*1236C>A (n.*1236C>A)
c.1789C>A (n.1789C>A)
c.1409C>A (p.Pro470His)
c.1457C>A (p.Pro486His)
c.1553C>A (p.Pro518His)
c.1499C>A (p.Pro500His)
c.1460C>A (p.Pro487His)
18g.33738981C=CA2294855766ASXL3c.1580C= (p.Pro527=)
c.1577C= (p.Pro526=)
c.*701C= (n.*701C=)
c.*1236C= (n.*1236C=)
c.1789C= (n.1789C=)
c.1409C= (p.Pro470=)
c.1457C= (p.Pro486=)
c.1553C= (p.Pro518=)
c.1499C= (p.Pro500=)
c.1460C= (p.Pro487=)
18g.33738981C>GCA402175885ASXL3c.1580C>G (p.Pro527Arg)
c.1577C>G (p.Pro526Arg)
c.*701C>G (n.*701C>G)
c.*1236C>G (n.*1236C>G)
c.1789C>G (n.1789C>G)
c.1409C>G (p.Pro470Arg)
c.1457C>G (p.Pro486Arg)
c.1553C>G (p.Pro518Arg)
c.1499C>G (p.Pro500Arg)
c.1460C>G (p.Pro487Arg)
18g.33738981C>TCA8933773ASXL3c.1580C>T (p.Pro527Leu)
c.1577C>T (p.Pro526Leu)
c.*701C>T (n.*701C>T)
c.*1236C>T (n.*1236C>T)
c.1789C>T (n.1789C>T)
c.1409C>T (p.Pro470Leu)
c.1457C>T (p.Pro486Leu)
c.1553C>T (p.Pro518Leu)
c.1499C>T (p.Pro500Leu)
c.1460C>T (p.Pro487Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738982C>ACA503768640ASXL3c.1581C>A (p.Pro527=)
c.1578C>A (p.Pro526=)
c.*702C>A (n.*702C>A)
c.*1237C>A (n.*1237C>A)
c.1790C>A (n.1790C>A)
c.1410C>A (p.Pro470=)
c.1458C>A (p.Pro486=)
c.1554C>A (p.Pro518=)
c.1500C>A (p.Pro500=)
c.1461C>A (p.Pro487=)
18g.33738982C=CA2294855767ASXL3c.1581C= (p.Pro527=)
c.1578C= (p.Pro526=)
c.*702C= (n.*702C=)
c.*1237C= (n.*1237C=)
c.1790C= (n.1790C=)
c.1410C= (p.Pro470=)
c.1458C= (p.Pro486=)
c.1554C= (p.Pro518=)
c.1500C= (p.Pro500=)
c.1461C= (p.Pro487=)
18g.33738982C>GCA503768641ASXL3c.1581C>G (p.Pro527=)
c.1578C>G (p.Pro526=)
c.*702C>G (n.*702C>G)
c.*1237C>G (n.*1237C>G)
c.1790C>G (n.1790C>G)
c.1410C>G (p.Pro470=)
c.1458C>G (p.Pro486=)
c.1554C>G (p.Pro518=)
c.1500C>G (p.Pro500=)
c.1461C>G (p.Pro487=)
dbSNP gnomAD v3 gnomAD v4
18g.33738982C>TCA503768643ASXL3c.1581C>T (p.Pro527=)
c.1578C>T (p.Pro526=)
c.*702C>T (n.*702C>T)
c.*1237C>T (n.*1237C>T)
c.1790C>T (n.1790C>T)
c.1410C>T (p.Pro470=)
c.1458C>T (p.Pro486=)
c.1554C>T (p.Pro518=)
c.1500C>T (p.Pro500=)
c.1461C>T (p.Pro487=)
18g.33738983C>ACA402175886ASXL3c.1582C>A (p.Gln528Lys)
c.1579C>A (p.Gln527Lys)
c.*703C>A (n.*703C>A)
c.*1238C>A (n.*1238C>A)
c.1791C>A (n.1791C>A)
c.1411C>A (p.Gln471Lys)
c.1459C>A (p.Gln487Lys)
c.1555C>A (p.Gln519Lys)
c.1501C>A (p.Gln501Lys)
c.1462C>A (p.Gln488Lys)
18g.33738983C>GCA402175887ASXL3c.1582C>G (p.Gln528Glu)
c.1579C>G (p.Gln527Glu)
c.*703C>G (n.*703C>G)
c.*1238C>G (n.*1238C>G)
c.1791C>G (n.1791C>G)
c.1411C>G (p.Gln471Glu)
c.1459C>G (p.Gln487Glu)
c.1555C>G (p.Gln519Glu)
c.1501C>G (p.Gln501Glu)
c.1462C>G (p.Gln488Glu)
18g.33738983C>TCA402175888ASXL3c.1582C>T (p.Gln528Ter)
c.1579C>T (p.Gln527Ter)
c.*703C>T (n.*703C>T)
c.*1238C>T (n.*1238C>T)
c.1791C>T (n.1791C>T)
c.1411C>T (p.Gln471Ter)
c.1459C>T (p.Gln487Ter)
c.1555C>T (p.Gln519Ter)
c.1501C>T (p.Gln501Ter)
c.1462C>T (p.Gln488Ter)
ClinVar
18g.33738984A=CA2294855768ASXL3c.1583A= (p.Gln528=)
c.1580A= (p.Gln527=)
c.*704A= (n.*704A=)
c.*1239A= (n.*1239A=)
c.1792A= (n.1792A=)
c.1412A= (p.Gln471=)
c.1460A= (p.Gln487=)
c.1556A= (p.Gln519=)
c.1502A= (p.Gln501=)
c.1463A= (p.Gln488=)
18g.33738984A>CCA402175889ASXL3c.1583A>C (p.Gln528Pro)
c.1580A>C (p.Gln527Pro)
c.*704A>C (n.*704A>C)
c.*1239A>C (n.*1239A>C)
c.1792A>C (n.1792A>C)
c.1412A>C (p.Gln471Pro)
c.1460A>C (p.Gln487Pro)
c.1556A>C (p.Gln519Pro)
c.1502A>C (p.Gln501Pro)
c.1463A>C (p.Gln488Pro)
18g.33738984A>GCA402175890ASXL3c.1583A>G (p.Gln528Arg)
c.1580A>G (p.Gln527Arg)
c.*704A>G (n.*704A>G)
c.*1239A>G (n.*1239A>G)
c.1792A>G (n.1792A>G)
c.1412A>G (p.Gln471Arg)
c.1460A>G (p.Gln487Arg)
c.1556A>G (p.Gln519Arg)
c.1502A>G (p.Gln501Arg)
c.1463A>G (p.Gln488Arg)
dbSNP gnomAD v2 gnomAD v4
18g.33738984A>TCA402175891ASXL3c.1583A>T (p.Gln528Leu)
c.1580A>T (p.Gln527Leu)
c.*704A>T (n.*704A>T)
c.*1239A>T (n.*1239A>T)
c.1792A>T (n.1792A>T)
c.1412A>T (p.Gln471Leu)
c.1460A>T (p.Gln487Leu)
c.1556A>T (p.Gln519Leu)
c.1502A>T (p.Gln501Leu)
c.1463A>T (p.Gln488Leu)
gnomAD v4
18g.33738984_33738985delinsAGCA2294855769ASXL3c.1583_1584delinsAG (p.Gln528=)
c.1580_1581delinsAG (p.Gln527=)
c.*704_*705delinsAG (n.*704_*705delinsAG)
c.*1239_*1240delinsAG (n.*1239_*1240delinsAG)
c.1792_1793delinsAG (n.1792_1793delinsAG)
c.1412_1413delinsAG (p.Gln471=)
c.1460_1461delinsAG (p.Gln487=)
c.1556_1557delinsAG (p.Gln519=)
c.1502_1503delinsAG (p.Gln501=)
c.1463_1464delinsAG (p.Gln488=)
18g.33738985G>ACA8933774ASXL3c.1584G>A (p.Gln528=)
c.1581G>A (p.Gln527=)
c.*705G>A (n.*705G>A)
c.*1240G>A (n.*1240G>A)
c.1793G>A (n.1793G>A)
c.1413G>A (p.Gln471=)
c.1461G>A (p.Gln487=)
c.1557G>A (p.Gln519=)
c.1503G>A (p.Gln501=)
c.1464G>A (p.Gln488=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738985G>CCA402175892ASXL3c.1584G>C (p.Gln528His)
c.1581G>C (p.Gln527His)
c.*705G>C (n.*705G>C)
c.*1240G>C (n.*1240G>C)
c.1793G>C (n.1793G>C)
c.1413G>C (p.Gln471His)
c.1461G>C (p.Gln487His)
c.1557G>C (p.Gln519His)
c.1503G>C (p.Gln501His)
c.1464G>C (p.Gln488His)
18g.33738985G=CA2294855770ASXL3c.1584G= (p.Gln528=)
c.1581G= (p.Gln527=)
c.*705G= (n.*705G=)
c.*1240G= (n.*1240G=)
c.1793G= (n.1793G=)
c.1413G= (p.Gln471=)
c.1461G= (p.Gln487=)
c.1557G= (p.Gln519=)
c.1503G= (p.Gln501=)
c.1464G= (p.Gln488=)
18g.33738985G>TCA402175893ASXL3c.1584G>T (p.Gln528His)
c.1581G>T (p.Gln527His)
c.*705G>T (n.*705G>T)
c.*1240G>T (n.*1240G>T)
c.1793G>T (n.1793G>T)
c.1413G>T (p.Gln471His)
c.1461G>T (p.Gln487His)
c.1557G>T (p.Gln519His)
c.1503G>T (p.Gln501His)
c.1464G>T (p.Gln488His)
18g.33738986delCA1139666021ASXL3c.1585del (p.Glu529LysfsTer3)
c.1582del (p.Glu528LysfsTer3)
c.*706del (n.*706del)
c.*1241del (n.*1241del)
c.1794del (n.1794del)
c.1414del (p.Glu472LysfsTer3)
c.1462del (p.Glu488LysfsTer3)
c.1558del (p.Glu520LysfsTer3)
c.1504del (p.Glu502LysfsTer3)
c.1465del (p.Glu489LysfsTer3)
ClinVar dbSNP
18g.33738986G>ACA402175894ASXL3c.1585G>A (p.Glu529Lys)
c.1582G>A (p.Glu528Lys)
c.*706G>A (n.*706G>A)
c.*1241G>A (n.*1241G>A)
c.1794G>A (n.1794G>A)
c.1414G>A (p.Glu472Lys)
c.1462G>A (p.Glu488Lys)
c.1558G>A (p.Glu520Lys)
c.1504G>A (p.Glu502Lys)
c.1465G>A (p.Glu489Lys)
18g.33738986G>CCA402175895ASXL3c.1585G>C (p.Glu529Gln)
c.1582G>C (p.Glu528Gln)
c.*706G>C (n.*706G>C)
c.*1241G>C (n.*1241G>C)
c.1794G>C (n.1794G>C)
c.1414G>C (p.Glu472Gln)
c.1462G>C (p.Glu488Gln)
c.1558G>C (p.Glu520Gln)
c.1504G>C (p.Glu502Gln)
c.1465G>C (p.Glu489Gln)
18g.33738986G=CA2294855771ASXL3c.1585G= (p.Glu529=)
c.1582G= (p.Glu528=)
c.*706G= (n.*706G=)
c.*1241G= (n.*1241G=)
c.1794G= (n.1794G=)
c.1414G= (p.Glu472=)
c.1462G= (p.Glu488=)
c.1558G= (p.Glu520=)
c.1504G= (p.Glu502=)
c.1465G= (p.Glu489=)
18g.33738986G>TCA402175896ASXL3c.1585G>T (p.Glu529Ter)
c.1582G>T (p.Glu528Ter)
c.*706G>T (n.*706G>T)
c.*1241G>T (n.*1241G>T)
c.1794G>T (n.1794G>T)
c.1414G>T (p.Glu472Ter)
c.1462G>T (p.Glu488Ter)
c.1558G>T (p.Glu520Ter)
c.1504G>T (p.Glu502Ter)
c.1465G>T (p.Glu489Ter)
ClinVar dbSNP
18g.33738987A=CA2294855772ASXL3c.1586A= (p.Glu529=)
c.1583A= (p.Glu528=)
c.*707A= (n.*707A=)
c.*1242A= (n.*1242A=)
c.1795A= (n.1795A=)
c.1415A= (p.Glu472=)
c.1463A= (p.Glu488=)
c.1559A= (p.Glu520=)
c.1505A= (p.Glu502=)
c.1466A= (p.Glu489=)
18g.33738987A>CCA402175898ASXL3c.1586A>C (p.Glu529Ala)
c.1583A>C (p.Glu528Ala)
c.*707A>C (n.*707A>C)
c.*1242A>C (n.*1242A>C)
c.1795A>C (n.1795A>C)
c.1415A>C (p.Glu472Ala)
c.1463A>C (p.Glu488Ala)
c.1559A>C (p.Glu520Ala)
c.1505A>C (p.Glu502Ala)
c.1466A>C (p.Glu489Ala)
18g.33738987A>GCA402175899ASXL3c.1586A>G (p.Glu529Gly)
c.1583A>G (p.Glu528Gly)
c.*707A>G (n.*707A>G)
c.*1242A>G (n.*1242A>G)
c.1795A>G (n.1795A>G)
c.1415A>G (p.Glu472Gly)
c.1463A>G (p.Glu488Gly)
c.1559A>G (p.Glu520Gly)
c.1505A>G (p.Glu502Gly)
c.1466A>G (p.Glu489Gly)
dbSNP
18g.33738987A>TCA402175897ASXL3c.1586A>T (p.Glu529Val)
c.1583A>T (p.Glu528Val)
c.*707A>T (n.*707A>T)
c.*1242A>T (n.*1242A>T)
c.1795A>T (n.1795A>T)
c.1415A>T (p.Glu472Val)
c.1463A>T (p.Glu488Val)
c.1559A>T (p.Glu520Val)
c.1505A>T (p.Glu502Val)
c.1466A>T (p.Glu489Val)
18g.33738988A>CCA402175900ASXL3c.1587A>C (p.Glu529Asp)
c.1584A>C (p.Glu528Asp)
c.*708A>C (n.*708A>C)
c.*1243A>C (n.*1243A>C)
c.1796A>C (n.1796A>C)
c.1416A>C (p.Glu472Asp)
c.1464A>C (p.Glu488Asp)
c.1560A>C (p.Glu520Asp)
c.1506A>C (p.Glu502Asp)
c.1467A>C (p.Glu489Asp)
18g.33738988A>GCA503768664ASXL3c.1587A>G (p.Glu529=)
c.1584A>G (p.Glu528=)
c.*708A>G (n.*708A>G)
c.*1243A>G (n.*1243A>G)
c.1796A>G (n.1796A>G)
c.1416A>G (p.Glu472=)
c.1464A>G (p.Glu488=)
c.1560A>G (p.Glu520=)
c.1506A>G (p.Glu502=)
c.1467A>G (p.Glu489=)
gnomAD v4
18g.33738988A>TCA402175901ASXL3c.1587A>T (p.Glu529Asp)
c.1584A>T (p.Glu528Asp)
c.*708A>T (n.*708A>T)
c.*1243A>T (n.*1243A>T)
c.1796A>T (n.1796A>T)
c.1416A>T (p.Glu472Asp)
c.1464A>T (p.Glu488Asp)
c.1560A>T (p.Glu520Asp)
c.1506A>T (p.Glu502Asp)
c.1467A>T (p.Glu489Asp)
18g.33738989G>ACA402175902ASXL3c.1588G>A (p.Glu530Lys)
c.1585G>A (p.Glu529Lys)
c.*709G>A (n.*709G>A)
c.*1244G>A (n.*1244G>A)
c.1797G>A (n.1797G>A)
c.1417G>A (p.Glu473Lys)
c.1465G>A (p.Glu489Lys)
c.1561G>A (p.Glu521Lys)
c.1507G>A (p.Glu503Lys)
c.1468G>A (p.Glu490Lys)
18g.33738989G>CCA402175903ASXL3c.1588G>C (p.Glu530Gln)
c.1585G>C (p.Glu529Gln)
c.*709G>C (n.*709G>C)
c.*1244G>C (n.*1244G>C)
c.1797G>C (n.1797G>C)
c.1417G>C (p.Glu473Gln)
c.1465G>C (p.Glu489Gln)
c.1561G>C (p.Glu521Gln)
c.1507G>C (p.Glu503Gln)
c.1468G>C (p.Glu490Gln)
18g.33738989G=CA2294855773ASXL3c.1588G= (p.Glu530=)
c.1585G= (p.Glu529=)
c.*709G= (n.*709G=)
c.*1244G= (n.*1244G=)
c.1797G= (n.1797G=)
c.1417G= (p.Glu473=)
c.1465G= (p.Glu489=)
c.1561G= (p.Glu521=)
c.1507G= (p.Glu503=)
c.1468G= (p.Glu490=)
18g.33738989G>TCA402175904ASXL3c.1588G>T (p.Glu530Ter)
c.1585G>T (p.Glu529Ter)
c.*709G>T (n.*709G>T)
c.*1244G>T (n.*1244G>T)
c.1797G>T (n.1797G>T)
c.1417G>T (p.Glu473Ter)
c.1465G>T (p.Glu489Ter)
c.1561G>T (p.Glu521Ter)
c.1507G>T (p.Glu503Ter)
c.1468G>T (p.Glu490Ter)
ClinVar dbSNP COSMIC COSMIC
18g.33738990A>CCA402175907ASXL3c.1589A>C (p.Glu530Ala)
c.1586A>C (p.Glu529Ala)
c.*710A>C (n.*710A>C)
c.*1245A>C (n.*1245A>C)
c.1798A>C (n.1798A>C)
c.1418A>C (p.Glu473Ala)
c.1466A>C (p.Glu489Ala)
c.1562A>C (p.Glu521Ala)
c.1508A>C (p.Glu503Ala)
c.1469A>C (p.Glu490Ala)
18g.33738990A>GCA402175905ASXL3c.1589A>G (p.Glu530Gly)
c.1586A>G (p.Glu529Gly)
c.*710A>G (n.*710A>G)
c.*1245A>G (n.*1245A>G)
c.1798A>G (n.1798A>G)
c.1418A>G (p.Glu473Gly)
c.1466A>G (p.Glu489Gly)
c.1562A>G (p.Glu521Gly)
c.1508A>G (p.Glu503Gly)
c.1469A>G (p.Glu490Gly)
gnomAD v4
18g.33738990A>TCA402175906ASXL3c.1589A>T (p.Glu530Val)
c.1586A>T (p.Glu529Val)
c.*710A>T (n.*710A>T)
c.*1245A>T (n.*1245A>T)
c.1798A>T (n.1798A>T)
c.1418A>T (p.Glu473Val)
c.1466A>T (p.Glu489Val)
c.1562A>T (p.Glu521Val)
c.1508A>T (p.Glu503Val)
c.1469A>T (p.Glu490Val)
18g.33738991A>CCA402175908ASXL3c.1590A>C (p.Glu530Asp)
c.1587A>C (p.Glu529Asp)
c.*711A>C (n.*711A>C)
c.*1246A>C (n.*1246A>C)
c.1799A>C (n.1799A>C)
c.1419A>C (p.Glu473Asp)
c.1467A>C (p.Glu489Asp)
c.1563A>C (p.Glu521Asp)
c.1509A>C (p.Glu503Asp)
c.1470A>C (p.Glu490Asp)
18g.33738991A>GCA503768669ASXL3c.1590A>G (p.Glu530=)
c.1587A>G (p.Glu529=)
c.*711A>G (n.*711A>G)
c.*1246A>G (n.*1246A>G)
c.1799A>G (n.1799A>G)
c.1419A>G (p.Glu473=)
c.1467A>G (p.Glu489=)
c.1563A>G (p.Glu521=)
c.1509A>G (p.Glu503=)
c.1470A>G (p.Glu490=)
18g.33738991A>TCA402175909ASXL3c.1590A>T (p.Glu530Asp)
c.1587A>T (p.Glu529Asp)
c.*711A>T (n.*711A>T)
c.*1246A>T (n.*1246A>T)
c.1799A>T (n.1799A>T)
c.1419A>T (p.Glu473Asp)
c.1467A>T (p.Glu489Asp)
c.1563A>T (p.Glu521Asp)
c.1509A>T (p.Glu503Asp)
c.1470A>T (p.Glu490Asp)
18g.33738992A>CCA402175910ASXL3c.1591A>C (p.Met531Leu)
c.1588A>C (p.Met530Leu)
c.*712A>C (n.*712A>C)
c.*1247A>C (n.*1247A>C)
c.1800A>C (n.1800A>C)
c.1420A>C (p.Met474Leu)
c.1468A>C (p.Met490Leu)
c.1564A>C (p.Met522Leu)
c.1510A>C (p.Met504Leu)
c.1471A>C (p.Met491Leu)
18g.33738992A>GCA402175911ASXL3c.1591A>G (p.Met531Val)
c.1588A>G (p.Met530Val)
c.*712A>G (n.*712A>G)
c.*1247A>G (n.*1247A>G)
c.1800A>G (n.1800A>G)
c.1420A>G (p.Met474Val)
c.1468A>G (p.Met490Val)
c.1564A>G (p.Met522Val)
c.1510A>G (p.Met504Val)
c.1471A>G (p.Met491Val)
gnomAD v4
18g.33738992A>TCA402175912ASXL3c.1591A>T (p.Met531Leu)
c.1588A>T (p.Met530Leu)
c.*712A>T (n.*712A>T)
c.*1247A>T (n.*1247A>T)
c.1800A>T (n.1800A>T)
c.1420A>T (p.Met474Leu)
c.1468A>T (p.Met490Leu)
c.1564A>T (p.Met522Leu)
c.1510A>T (p.Met504Leu)
c.1471A>T (p.Met491Leu)
18g.33738993T>ACA402175913ASXL3c.1592T>A (p.Met531Lys)
c.1589T>A (p.Met530Lys)
c.*713T>A (n.*713T>A)
c.*1248T>A (n.*1248T>A)
c.1801T>A (n.1801T>A)
c.1421T>A (p.Met474Lys)
c.1469T>A (p.Met490Lys)
c.1565T>A (p.Met522Lys)
c.1511T>A (p.Met504Lys)
c.1472T>A (p.Met491Lys)
18g.33738993T>CCA8933775ASXL3c.1592T>C (p.Met531Thr)
c.1589T>C (p.Met530Thr)
c.*713T>C (n.*713T>C)
c.*1248T>C (n.*1248T>C)
c.1801T>C (n.1801T>C)
c.1421T>C (p.Met474Thr)
c.1469T>C (p.Met490Thr)
c.1565T>C (p.Met522Thr)
c.1511T>C (p.Met504Thr)
c.1472T>C (p.Met491Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738993T>GCA402175914ASXL3c.1592T>G (p.Met531Arg)
c.1589T>G (p.Met530Arg)
c.*713T>G (n.*713T>G)
c.*1248T>G (n.*1248T>G)
c.1801T>G (n.1801T>G)
c.1421T>G (p.Met474Arg)
c.1469T>G (p.Met490Arg)
c.1565T>G (p.Met522Arg)
c.1511T>G (p.Met504Arg)
c.1472T>G (p.Met491Arg)
18g.33738993T=CA2294855774ASXL3c.1592T= (p.Met531=)
c.1589T= (p.Met530=)
c.*713T= (n.*713T=)
c.*1248T= (n.*1248T=)
c.1801T= (n.1801T=)
c.1421T= (p.Met474=)
c.1469T= (p.Met490=)
c.1565T= (p.Met522=)
c.1511T= (p.Met504=)
c.1472T= (p.Met491=)
18g.33738994G>ACA402175915ASXL3c.1593G>A (p.Met531Ile)
c.1590G>A (p.Met530Ile)
c.*714G>A (n.*714G>A)
c.*1249G>A (n.*1249G>A)
c.1802G>A (n.1802G>A)
c.1422G>A (p.Met474Ile)
c.1470G>A (p.Met490Ile)
c.1566G>A (p.Met522Ile)
c.1512G>A (p.Met504Ile)
c.1473G>A (p.Met491Ile)
18g.33738994G>CCA402175917ASXL3c.1593G>C (p.Met531Ile)
c.1590G>C (p.Met530Ile)
c.*714G>C (n.*714G>C)
c.*1249G>C (n.*1249G>C)
c.1802G>C (n.1802G>C)
c.1422G>C (p.Met474Ile)
c.1470G>C (p.Met490Ile)
c.1566G>C (p.Met522Ile)
c.1512G>C (p.Met504Ile)
c.1473G>C (p.Met491Ile)
18g.33738994G>TCA402175916ASXL3c.1593G>T (p.Met531Ile)
c.1590G>T (p.Met530Ile)
c.*714G>T (n.*714G>T)
c.*1249G>T (n.*1249G>T)
c.1802G>T (n.1802G>T)
c.1422G>T (p.Met474Ile)
c.1470G>T (p.Met490Ile)
c.1566G>T (p.Met522Ile)
c.1512G>T (p.Met504Ile)
c.1473G>T (p.Met491Ile)
18g.33738995A=CA2294855775ASXL3c.1594A= (p.Thr532=)
c.1591A= (p.Thr531=)
c.*715A= (n.*715A=)
c.*1250A= (n.*1250A=)
c.1803A= (n.1803A=)
c.1423A= (p.Thr475=)
c.1471A= (p.Thr491=)
c.1567A= (p.Thr523=)
c.1513A= (p.Thr505=)
c.1474A= (p.Thr492=)
18g.33738995A>CCA402175918ASXL3c.1594A>C (p.Thr532Pro)
c.1591A>C (p.Thr531Pro)
c.*715A>C (n.*715A>C)
c.*1250A>C (n.*1250A>C)
c.1803A>C (n.1803A>C)
c.1423A>C (p.Thr475Pro)
c.1471A>C (p.Thr491Pro)
c.1567A>C (p.Thr523Pro)
c.1513A>C (p.Thr505Pro)
c.1474A>C (p.Thr492Pro)
18g.33738995A>GCA8933776ASXL3c.1594A>G (p.Thr532Ala)
c.1591A>G (p.Thr531Ala)
c.*715A>G (n.*715A>G)
c.*1250A>G (n.*1250A>G)
c.1803A>G (n.1803A>G)
c.1423A>G (p.Thr475Ala)
c.1471A>G (p.Thr491Ala)
c.1567A>G (p.Thr523Ala)
c.1513A>G (p.Thr505Ala)
c.1474A>G (p.Thr492Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738995A>TCA402175919ASXL3c.1594A>T (p.Thr532Ser)
c.1591A>T (p.Thr531Ser)
c.*715A>T (n.*715A>T)
c.*1250A>T (n.*1250A>T)
c.1803A>T (n.1803A>T)
c.1423A>T (p.Thr475Ser)
c.1471A>T (p.Thr491Ser)
c.1567A>T (p.Thr523Ser)
c.1513A>T (p.Thr505Ser)
c.1474A>T (p.Thr492Ser)
18g.33738996C>ACA402175920ASXL3c.1595C>A (p.Thr532Lys)
c.1592C>A (p.Thr531Lys)
c.*716C>A (n.*716C>A)
c.*1251C>A (n.*1251C>A)
c.1804C>A (n.1804C>A)
c.1424C>A (p.Thr475Lys)
c.1472C>A (p.Thr491Lys)
c.1568C>A (p.Thr523Lys)
c.1514C>A (p.Thr505Lys)
c.1475C>A (p.Thr492Lys)
18g.33738996C>GCA402175921ASXL3c.1595C>G (p.Thr532Arg)
c.1592C>G (p.Thr531Arg)
c.*716C>G (n.*716C>G)
c.*1251C>G (n.*1251C>G)
c.1804C>G (n.1804C>G)
c.1424C>G (p.Thr475Arg)
c.1472C>G (p.Thr491Arg)
c.1568C>G (p.Thr523Arg)
c.1514C>G (p.Thr505Arg)
c.1475C>G (p.Thr492Arg)
18g.33738996C>TCA402175922ASXL3c.1595C>T (p.Thr532Ile)
c.1592C>T (p.Thr531Ile)
c.*716C>T (n.*716C>T)
c.*1251C>T (n.*1251C>T)
c.1804C>T (n.1804C>T)
c.1424C>T (p.Thr475Ile)
c.1472C>T (p.Thr491Ile)
c.1568C>T (p.Thr523Ile)
c.1514C>T (p.Thr505Ile)
c.1475C>T (p.Thr492Ile)
18g.33738997A=CA2294855776ASXL3c.1596A= (p.Thr532=)
c.1593A= (p.Thr531=)
c.*717A= (n.*717A=)
c.*1252A= (n.*1252A=)
c.1805A= (n.1805A=)
c.1425A= (p.Thr475=)
c.1473A= (p.Thr491=)
c.1569A= (p.Thr523=)
c.1515A= (p.Thr505=)
c.1476A= (p.Thr492=)
18g.33738997A>CCA503768682ASXL3c.1596A>C (p.Thr532=)
c.1593A>C (p.Thr531=)
c.*717A>C (n.*717A>C)
c.*1252A>C (n.*1252A>C)
c.1805A>C (n.1805A>C)
c.1425A>C (p.Thr475=)
c.1473A>C (p.Thr491=)
c.1569A>C (p.Thr523=)
c.1515A>C (p.Thr505=)
c.1476A>C (p.Thr492=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738997A>GCA503768683ASXL3c.1596A>G (p.Thr532=)
c.1593A>G (p.Thr531=)
c.*717A>G (n.*717A>G)
c.*1252A>G (n.*1252A>G)
c.1805A>G (n.1805A>G)
c.1425A>G (p.Thr475=)
c.1473A>G (p.Thr491=)
c.1569A>G (p.Thr523=)
c.1515A>G (p.Thr505=)
c.1476A>G (p.Thr492=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33738997A>TCA503768684ASXL3c.1596A>T (p.Thr532=)
c.1593A>T (p.Thr531=)
c.*717A>T (n.*717A>T)
c.*1252A>T (n.*1252A>T)
c.1805A>T (n.1805A>T)
c.1425A>T (p.Thr475=)
c.1473A>T (p.Thr491=)
c.1569A>T (p.Thr523=)
c.1515A>T (p.Thr505=)
c.1476A>T (p.Thr492=)
18g.33738997_33739000delinsAGTTCA2294855777ASXL3c.1596_1599delinsAGTT (p.Thr532=)
c.1593_1596delinsAGTT (p.Thr531=)
c.*717_*720delinsAGTT (n.*717_*720delinsAGTT)
c.*1252_*1255delinsAGTT (n.*1252_*1255delinsAGTT)
c.1805_1808delinsAGTT (n.1805_1808delinsAGTT)
c.1425_1428delinsAGTT (p.Thr475=)
c.1473_1476delinsAGTT (p.Thr491=)
c.1569_1572delinsAGTT (p.Thr523=)
c.1515_1518delinsAGTT (p.Thr505=)
c.1476_1479delinsAGTT (p.Thr492=)
18g.33738998G>ACA402175923ASXL3c.1597G>A (p.Val533Ile)
c.1594G>A (p.Val532Ile)
c.*718G>A (n.*718G>A)
c.*1253G>A (n.*1253G>A)
c.1806G>A (n.1806G>A)
c.1426G>A (p.Val476Ile)
c.1474G>A (p.Val492Ile)
c.1570G>A (p.Val524Ile)
c.1516G>A (p.Val506Ile)
c.1477G>A (p.Val493Ile)
gnomAD v4
18g.33738998G>CCA402175924ASXL3c.1597G>C (p.Val533Leu)
c.1594G>C (p.Val532Leu)
c.*718G>C (n.*718G>C)
c.*1253G>C (n.*1253G>C)
c.1806G>C (n.1806G>C)
c.1426G>C (p.Val476Leu)
c.1474G>C (p.Val492Leu)
c.1570G>C (p.Val524Leu)
c.1516G>C (p.Val506Leu)
c.1477G>C (p.Val493Leu)
18g.33738998G>TCA402175925ASXL3c.1597G>T (p.Val533Phe)
c.1594G>T (p.Val532Phe)
c.*718G>T (n.*718G>T)
c.*1253G>T (n.*1253G>T)
c.1806G>T (n.1806G>T)
c.1426G>T (p.Val476Phe)
c.1474G>T (p.Val492Phe)
c.1570G>T (p.Val524Phe)
c.1516G>T (p.Val506Phe)
c.1477G>T (p.Val493Phe)
18g.33739001_33739003delCA503768685ASXL3c.1600_1602del (p.Val534del)
c.1597_1599del (p.Val533del)
c.*721_*723del (n.*721_*723del)
c.*1256_*1258del (n.*1256_*1258del)
c.1809_1811del (n.1809_1811del)
c.1429_1431del (p.Val477del)
c.1477_1479del (p.Val493del)
c.1573_1575del (p.Val525del)
c.1519_1521del (p.Val507del)
c.1480_1482del (p.Val494del)
dbSNP gnomAD v4
18g.33738999T>ACA402175926ASXL3c.1598T>A (p.Val533Asp)
c.1595T>A (p.Val532Asp)
c.*719T>A (n.*719T>A)
c.*1254T>A (n.*1254T>A)
c.1807T>A (n.1807T>A)
c.1427T>A (p.Val476Asp)
c.1475T>A (p.Val492Asp)
c.1571T>A (p.Val524Asp)
c.1517T>A (p.Val506Asp)
c.1478T>A (p.Val493Asp)
18g.33738999T>CCA402175927ASXL3c.1598T>C (p.Val533Ala)
c.1595T>C (p.Val532Ala)
c.*719T>C (n.*719T>C)
c.*1254T>C (n.*1254T>C)
c.1807T>C (n.1807T>C)
c.1427T>C (p.Val476Ala)
c.1475T>C (p.Val492Ala)
c.1571T>C (p.Val524Ala)
c.1517T>C (p.Val506Ala)
c.1478T>C (p.Val493Ala)
18g.33738999T>GCA402175928ASXL3c.1598T>G (p.Val533Gly)
c.1595T>G (p.Val532Gly)
c.*719T>G (n.*719T>G)
c.*1254T>G (n.*1254T>G)
c.1807T>G (n.1807T>G)
c.1427T>G (p.Val476Gly)
c.1475T>G (p.Val492Gly)
c.1571T>G (p.Val524Gly)
c.1517T>G (p.Val506Gly)
c.1478T>G (p.Val493Gly)
18g.33739000T>ACA503768689ASXL3c.1599T>A (p.Val533=)
c.1596T>A (p.Val532=)
c.*720T>A (n.*720T>A)
c.*1255T>A (n.*1255T>A)
c.1808T>A (n.1808T>A)
c.1428T>A (p.Val476=)
c.1476T>A (p.Val492=)
c.1572T>A (p.Val524=)
c.1518T>A (p.Val506=)
c.1479T>A (p.Val493=)
18g.33739000T>CCA503768691ASXL3c.1599T>C (p.Val533=)
c.1596T>C (p.Val532=)
c.*720T>C (n.*720T>C)
c.*1255T>C (n.*1255T>C)
c.1808T>C (n.1808T>C)
c.1428T>C (p.Val476=)
c.1476T>C (p.Val492=)
c.1572T>C (p.Val524=)
c.1518T>C (p.Val506=)
c.1479T>C (p.Val493=)
dbSNP
18g.33739000T>GCA503768693ASXL3c.1599T>G (p.Val533=)
c.1596T>G (p.Val532=)
c.*720T>G (n.*720T>G)
c.*1255T>G (n.*1255T>G)
c.1808T>G (n.1808T>G)
c.1428T>G (p.Val476=)
c.1476T>G (p.Val492=)
c.1572T>G (p.Val524=)
c.1518T>G (p.Val506=)
c.1479T>G (p.Val493=)
18g.33739000T=CA2294855778ASXL3c.1599T= (p.Val533=)
c.1596T= (p.Val532=)
c.*720T= (n.*720T=)
c.*1255T= (n.*1255T=)
c.1808T= (n.1808T=)
c.1428T= (p.Val476=)
c.1476T= (p.Val492=)
c.1572T= (p.Val524=)
c.1518T= (p.Val506=)
c.1479T= (p.Val493=)
18g.33739001G>ACA402175931ASXL3c.1600G>A (p.Val534Ile)
c.1597G>A (p.Val533Ile)
c.*721G>A (n.*721G>A)
c.*1256G>A (n.*1256G>A)
c.1809G>A (n.1809G>A)
c.1429G>A (p.Val477Ile)
c.1477G>A (p.Val493Ile)
c.1573G>A (p.Val525Ile)
c.1519G>A (p.Val507Ile)
c.1480G>A (p.Val494Ile)
gnomAD v4
18g.33739001G>CCA402175929ASXL3c.1600G>C (p.Val534Leu)
c.1597G>C (p.Val533Leu)
c.*721G>C (n.*721G>C)
c.*1256G>C (n.*1256G>C)
c.1809G>C (n.1809G>C)
c.1429G>C (p.Val477Leu)
c.1477G>C (p.Val493Leu)
c.1573G>C (p.Val525Leu)
c.1519G>C (p.Val507Leu)
c.1480G>C (p.Val494Leu)
18g.33739001G>TCA402175930ASXL3c.1600G>T (p.Val534Phe)
c.1597G>T (p.Val533Phe)
c.*721G>T (n.*721G>T)
c.*1256G>T (n.*1256G>T)
c.1809G>T (n.1809G>T)
c.1429G>T (p.Val477Phe)
c.1477G>T (p.Val493Phe)
c.1573G>T (p.Val525Phe)
c.1519G>T (p.Val507Phe)
c.1480G>T (p.Val494Phe)
ClinVar dbSNP
18g.33739002T>ACA402175932ASXL3c.1601T>A (p.Val534Asp)
c.1598T>A (p.Val533Asp)
c.*722T>A (n.*722T>A)
c.*1257T>A (n.*1257T>A)
c.1810T>A (n.1810T>A)
c.1430T>A (p.Val477Asp)
c.1478T>A (p.Val493Asp)
c.1574T>A (p.Val525Asp)
c.1520T>A (p.Val507Asp)
c.1481T>A (p.Val494Asp)
18g.33739002T>CCA402175933ASXL3c.1601T>C (p.Val534Ala)
c.1598T>C (p.Val533Ala)
c.*722T>C (n.*722T>C)
c.*1257T>C (n.*1257T>C)
c.1810T>C (n.1810T>C)
c.1430T>C (p.Val477Ala)
c.1478T>C (p.Val493Ala)
c.1574T>C (p.Val525Ala)
c.1520T>C (p.Val507Ala)
c.1481T>C (p.Val494Ala)
dbSNP gnomAD v3 gnomAD v4
18g.33739002T>GCA402175934ASXL3c.1601T>G (p.Val534Gly)
c.1598T>G (p.Val533Gly)
c.*722T>G (n.*722T>G)
c.*1257T>G (n.*1257T>G)
c.1810T>G (n.1810T>G)
c.1430T>G (p.Val477Gly)
c.1478T>G (p.Val493Gly)
c.1574T>G (p.Val525Gly)
c.1520T>G (p.Val507Gly)
c.1481T>G (p.Val494Gly)
18g.33739002T=CA2294855779ASXL3c.1601T= (p.Val534=)
c.1598T= (p.Val533=)
c.*722T= (n.*722T=)
c.*1257T= (n.*1257T=)
c.1810T= (n.1810T=)
c.1430T= (p.Val477=)
c.1478T= (p.Val493=)
c.1574T= (p.Val525=)
c.1520T= (p.Val507=)
c.1481T= (p.Val494=)
18g.33739003T>ACA503768700ASXL3c.1602T>A (p.Val534=)
c.1599T>A (p.Val533=)
c.*723T>A (n.*723T>A)
c.*1258T>A (n.*1258T>A)
c.1811T>A (n.1811T>A)
c.1431T>A (p.Val477=)
c.1479T>A (p.Val493=)
c.1575T>A (p.Val525=)
c.1521T>A (p.Val507=)
c.1482T>A (p.Val494=)
18g.33739003T>CCA503768702ASXL3c.1602T>C (p.Val534=)
c.1599T>C (p.Val533=)
c.*723T>C (n.*723T>C)
c.*1258T>C (n.*1258T>C)
c.1811T>C (n.1811T>C)
c.1431T>C (p.Val477=)
c.1479T>C (p.Val493=)
c.1575T>C (p.Val525=)
c.1521T>C (p.Val507=)
c.1482T>C (p.Val494=)
18g.33739003T>GCA503768704ASXL3c.1602T>G (p.Val534=)
c.1599T>G (p.Val533=)
c.*723T>G (n.*723T>G)
c.*1258T>G (n.*1258T>G)
c.1811T>G (n.1811T>G)
c.1431T>G (p.Val477=)
c.1479T>G (p.Val493=)
c.1575T>G (p.Val525=)
c.1521T>G (p.Val507=)
c.1482T>G (p.Val494=)
18g.33739004A>CCA402175935ASXL3c.1603A>C (p.Ile535Leu)
c.1600A>C (p.Ile534Leu)
c.*724A>C (n.*724A>C)
c.*1259A>C (n.*1259A>C)
c.1812A>C (n.1812A>C)
c.1432A>C (p.Ile478Leu)
c.1480A>C (p.Ile494Leu)
c.1576A>C (p.Ile526Leu)
c.1522A>C (p.Ile508Leu)
c.1483A>C (p.Ile495Leu)
18g.33739004A>GCA402175936ASXL3c.1603A>G (p.Ile535Val)
c.1600A>G (p.Ile534Val)
c.*724A>G (n.*724A>G)
c.*1259A>G (n.*1259A>G)
c.1812A>G (n.1812A>G)
c.1432A>G (p.Ile478Val)
c.1480A>G (p.Ile494Val)
c.1576A>G (p.Ile526Val)
c.1522A>G (p.Ile508Val)
c.1483A>G (p.Ile495Val)
gnomAD v4
18g.33739004A>TCA402175937ASXL3c.1603A>T (p.Ile535Phe)
c.1600A>T (p.Ile534Phe)
c.*724A>T (n.*724A>T)
c.*1259A>T (n.*1259A>T)
c.1812A>T (n.1812A>T)
c.1432A>T (p.Ile478Phe)
c.1480A>T (p.Ile494Phe)
c.1576A>T (p.Ile526Phe)
c.1522A>T (p.Ile508Phe)
c.1483A>T (p.Ile495Phe)
18g.33739005T>ACA402175938ASXL3c.1604T>A (p.Ile535Asn)
c.1601T>A (p.Ile534Asn)
c.*725T>A (n.*725T>A)
c.*1260T>A (n.*1260T>A)
c.1813T>A (n.1813T>A)
c.1433T>A (p.Ile478Asn)
c.1481T>A (p.Ile494Asn)
c.1577T>A (p.Ile526Asn)
c.1523T>A (p.Ile508Asn)
c.1484T>A (p.Ile495Asn)
18g.33739005T>CCA402175939ASXL3c.1604T>C (p.Ile535Thr)
c.1601T>C (p.Ile534Thr)
c.*725T>C (n.*725T>C)
c.*1260T>C (n.*1260T>C)
c.1813T>C (n.1813T>C)
c.1433T>C (p.Ile478Thr)
c.1481T>C (p.Ile494Thr)
c.1577T>C (p.Ile526Thr)
c.1523T>C (p.Ile508Thr)
c.1484T>C (p.Ile495Thr)
18g.33739005T>GCA402175940ASXL3c.1604T>G (p.Ile535Ser)
c.1601T>G (p.Ile534Ser)
c.*725T>G (n.*725T>G)
c.*1260T>G (n.*1260T>G)
c.1813T>G (n.1813T>G)
c.1433T>G (p.Ile478Ser)
c.1481T>G (p.Ile494Ser)
c.1577T>G (p.Ile526Ser)
c.1523T>G (p.Ile508Ser)
c.1484T>G (p.Ile495Ser)
18g.33739006C>ACA503768710ASXL3c.1605C>A (p.Ile535=)
c.1602C>A (p.Ile534=)
c.*726C>A (n.*726C>A)
c.*1261C>A (n.*1261C>A)
c.1814C>A (n.1814C>A)
c.1434C>A (p.Ile478=)
c.1482C>A (p.Ile494=)
c.1578C>A (p.Ile526=)
c.1524C>A (p.Ile508=)
c.1485C>A (p.Ile495=)
18g.33739006C=CA2294855780ASXL3c.1605C= (p.Ile535=)
c.1602C= (p.Ile534=)
c.*726C= (n.*726C=)
c.*1261C= (n.*1261C=)
c.1814C= (n.1814C=)
c.1434C= (p.Ile478=)
c.1482C= (p.Ile494=)
c.1578C= (p.Ile526=)
c.1524C= (p.Ile508=)
c.1485C= (p.Ile495=)
18g.33739006C>GCA402175941ASXL3c.1605C>G (p.Ile535Met)
c.1602C>G (p.Ile534Met)
c.*726C>G (n.*726C>G)
c.*1261C>G (n.*1261C>G)
c.1814C>G (n.1814C>G)
c.1434C>G (p.Ile478Met)
c.1482C>G (p.Ile494Met)
c.1578C>G (p.Ile526Met)
c.1524C>G (p.Ile508Met)
c.1485C>G (p.Ile495Met)
dbSNP gnomAD v2 gnomAD v4
18g.33739006C>TCA8933777ASXL3c.1605C>T (p.Ile535=)
c.1602C>T (p.Ile534=)
c.*726C>T (n.*726C>T)
c.*1261C>T (n.*1261C>T)
c.1814C>T (n.1814C>T)
c.1434C>T (p.Ile478=)
c.1482C>T (p.Ile494=)
c.1578C>T (p.Ile526=)
c.1524C>T (p.Ile508=)
c.1485C>T (p.Ile495=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739007G>ACA8933779ASXL3c.1606G>A (p.Asp536Asn)
c.1603G>A (p.Asp535Asn)
c.*727G>A (n.*727G>A)
c.*1262G>A (n.*1262G>A)
c.1815G>A (n.1815G>A)
c.1435G>A (p.Asp479Asn)
c.1483G>A (p.Asp495Asn)
c.1579G>A (p.Asp527Asn)
c.1525G>A (p.Asp509Asn)
c.1486G>A (p.Asp496Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.33739007G>CCA402175942ASXL3c.1606G>C (p.Asp536His)
c.1603G>C (p.Asp535His)
c.*727G>C (n.*727G>C)
c.*1262G>C (n.*1262G>C)
c.1815G>C (n.1815G>C)
c.1435G>C (p.Asp479His)
c.1483G>C (p.Asp495His)
c.1579G>C (p.Asp527His)
c.1525G>C (p.Asp509His)
c.1486G>C (p.Asp496His)
dbSNP gnomAD v2
18g.33739007G=CA2294855781ASXL3c.1606G= (p.Asp536=)
c.1603G= (p.Asp535=)
c.*727G= (n.*727G=)
c.*1262G= (n.*1262G=)
c.1815G= (n.1815G=)
c.1435G= (p.Asp479=)
c.1483G= (p.Asp495=)
c.1579G= (p.Asp527=)
c.1525G= (p.Asp509=)
c.1486G= (p.Asp496=)
18g.33739007G>TCA8933778ASXL3c.1606G>T (p.Asp536Tyr)
c.1603G>T (p.Asp535Tyr)
c.*727G>T (n.*727G>T)
c.*1262G>T (n.*1262G>T)
c.1815G>T (n.1815G>T)
c.1435G>T (p.Asp479Tyr)
c.1483G>T (p.Asp495Tyr)
c.1579G>T (p.Asp527Tyr)
c.1525G>T (p.Asp509Tyr)
c.1486G>T (p.Asp496Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739008A>CCA402175943ASXL3c.1607A>C (p.Asp536Ala)
c.1604A>C (p.Asp535Ala)
c.*728A>C (n.*728A>C)
c.*1263A>C (n.*1263A>C)
c.1816A>C (n.1816A>C)
c.1436A>C (p.Asp479Ala)
c.1484A>C (p.Asp495Ala)
c.1580A>C (p.Asp527Ala)
c.1526A>C (p.Asp509Ala)
c.1487A>C (p.Asp496Ala)
18g.33739008A>GCA402175944ASXL3c.1607A>G (p.Asp536Gly)
c.1604A>G (p.Asp535Gly)
c.*728A>G (n.*728A>G)
c.*1263A>G (n.*1263A>G)
c.1816A>G (n.1816A>G)
c.1436A>G (p.Asp479Gly)
c.1484A>G (p.Asp495Gly)
c.1580A>G (p.Asp527Gly)
c.1526A>G (p.Asp509Gly)
c.1487A>G (p.Asp496Gly)
18g.33739008A>TCA402175945ASXL3c.1607A>T (p.Asp536Val)
c.1604A>T (p.Asp535Val)
c.*728A>T (n.*728A>T)
c.*1263A>T (n.*1263A>T)
c.1816A>T (n.1816A>T)
c.1436A>T (p.Asp479Val)
c.1484A>T (p.Asp495Val)
c.1580A>T (p.Asp527Val)
c.1526A>T (p.Asp509Val)
c.1487A>T (p.Asp496Val)
18g.33739009T>ACA402175946ASXL3c.1608T>A (p.Asp536Glu)
c.1605T>A (p.Asp535Glu)
c.*729T>A (n.*729T>A)
c.*1264T>A (n.*1264T>A)
c.1817T>A (n.1817T>A)
c.1437T>A (p.Asp479Glu)
c.1485T>A (p.Asp495Glu)
c.1581T>A (p.Asp527Glu)
c.1527T>A (p.Asp509Glu)
c.1488T>A (p.Asp496Glu)
18g.33739009T>CCA503768713ASXL3c.1608T>C (p.Asp536=)
c.1605T>C (p.Asp535=)
c.*729T>C (n.*729T>C)
c.*1264T>C (n.*1264T>C)
c.1817T>C (n.1817T>C)
c.1437T>C (p.Asp479=)
c.1485T>C (p.Asp495=)
c.1581T>C (p.Asp527=)
c.1527T>C (p.Asp509=)
c.1488T>C (p.Asp496=)
18g.33739009T>GCA402175947ASXL3c.1608T>G (p.Asp536Glu)
c.1605T>G (p.Asp535Glu)
c.*729T>G (n.*729T>G)
c.*1264T>G (n.*1264T>G)
c.1817T>G (n.1817T>G)
c.1437T>G (p.Asp479Glu)
c.1485T>G (p.Asp495Glu)
c.1581T>G (p.Asp527Glu)
c.1527T>G (p.Asp509Glu)
c.1488T>G (p.Asp496Glu)
18g.33739010C>ACA402175948ASXL3c.1609C>A (p.Gln537Lys)
c.1606C>A (p.Gln536Lys)
c.*730C>A (n.*730C>A)
c.*1265C>A (n.*1265C>A)
c.1818C>A (n.1818C>A)
c.1438C>A (p.Gln480Lys)
c.1486C>A (p.Gln496Lys)
c.1582C>A (p.Gln528Lys)
c.1528C>A (p.Gln510Lys)
c.1489C>A (p.Gln497Lys)
18g.33739010C>GCA402175949ASXL3c.1609C>G (p.Gln537Glu)
c.1606C>G (p.Gln536Glu)
c.*730C>G (n.*730C>G)
c.*1265C>G (n.*1265C>G)
c.1818C>G (n.1818C>G)
c.1438C>G (p.Gln480Glu)
c.1486C>G (p.Gln496Glu)
c.1582C>G (p.Gln528Glu)
c.1528C>G (p.Gln510Glu)
c.1489C>G (p.Gln497Glu)
18g.33739010C>TCA402175950ASXL3c.1609C>T (p.Gln537Ter)
c.1606C>T (p.Gln536Ter)
c.*730C>T (n.*730C>T)
c.*1265C>T (n.*1265C>T)
c.1818C>T (n.1818C>T)
c.1438C>T (p.Gln480Ter)
c.1486C>T (p.Gln496Ter)
c.1582C>T (p.Gln528Ter)
c.1528C>T (p.Gln510Ter)
c.1489C>T (p.Gln497Ter)
18g.33739010_33739011delCA2740097816ASXL3c.1609_1610del (p.Gln537ValfsTer5)
c.1606_1607del (p.Gln536ValfsTer5)
c.*730_*731del (n.*730_*731del)
c.*1265_*1266del (n.*1265_*1266del)
c.1818_1819del (n.1818_1819del)
c.1438_1439del (p.Gln480ValfsTer5)
c.1486_1487del (p.Gln496ValfsTer5)
c.1582_1583del (p.Gln528ValfsTer5)
c.1528_1529del (p.Gln510ValfsTer5)
c.1489_1490del (p.Gln497ValfsTer5)
ClinVar
18g.33739011A>CCA402175951ASXL3c.1610A>C (p.Gln537Pro)
c.1607A>C (p.Gln536Pro)
c.*731A>C (n.*731A>C)
c.*1266A>C (n.*1266A>C)
c.1819A>C (n.1819A>C)
c.1439A>C (p.Gln480Pro)
c.1487A>C (p.Gln496Pro)
c.1583A>C (p.Gln528Pro)
c.1529A>C (p.Gln510Pro)
c.1490A>C (p.Gln497Pro)
18g.33739011A>GCA402175952ASXL3c.1610A>G (p.Gln537Arg)
c.1607A>G (p.Gln536Arg)
c.*731A>G (n.*731A>G)
c.*1266A>G (n.*1266A>G)
c.1819A>G (n.1819A>G)
c.1439A>G (p.Gln480Arg)
c.1487A>G (p.Gln496Arg)
c.1583A>G (p.Gln528Arg)
c.1529A>G (p.Gln510Arg)
c.1490A>G (p.Gln497Arg)
18g.33739011A>TCA402175953ASXL3c.1610A>T (p.Gln537Leu)
c.1607A>T (p.Gln536Leu)
c.*731A>T (n.*731A>T)
c.*1266A>T (n.*1266A>T)
c.1819A>T (n.1819A>T)
c.1439A>T (p.Gln480Leu)
c.1487A>T (p.Gln496Leu)
c.1583A>T (p.Gln528Leu)
c.1529A>T (p.Gln510Leu)
c.1490A>T (p.Gln497Leu)
18g.33739013_33739016dupCA2740097817ASXL3c.1612_1615dup (p.Glu539ValfsTer5)
c.1609_1612dup (p.Glu538ValfsTer5)
c.*733_*736dup (n.*733_*736dup)
c.*1268_*1271dup (n.*1268_*1271dup)
c.1821_1824dup (n.1821_1824dup)
c.1441_1444dup (p.Glu482ValfsTer5)
c.1489_1492dup (p.Glu498ValfsTer5)
c.1585_1588dup (p.Glu530ValfsTer5)
c.1531_1534dup (p.Glu512ValfsTer5)
c.1492_1495dup (p.Glu499ValfsTer5)
ClinVar
18g.33739013_33739016delCA2697555379ASXL3c.1612_1615del (p.Leu538LysfsTer13)
c.1609_1612del (p.Leu537LysfsTer13)
c.*733_*736del (n.*733_*736del)
c.*1268_*1271del (n.*1268_*1271del)
c.1821_1824del (n.1821_1824del)
c.1441_1444del (p.Leu481LysfsTer13)
c.1489_1492del (p.Leu497LysfsTer13)
c.1585_1588del (p.Leu529LysfsTer13)
c.1531_1534del (p.Leu511LysfsTer13)
c.1492_1495del (p.Leu498LysfsTer13)
ClinVar
18g.33739012G>ACA8933780ASXL3c.1611G>A (p.Gln537=)
c.1608G>A (p.Gln536=)
c.*732G>A (n.*732G>A)
c.*1267G>A (n.*1267G>A)
c.1820G>A (n.1820G>A)
c.1440G>A (p.Gln480=)
c.1488G>A (p.Gln496=)
c.1584G>A (p.Gln528=)
c.1530G>A (p.Gln510=)
c.1491G>A (p.Gln497=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739012G>CCA402175954ASXL3c.1611G>C (p.Gln537His)
c.1608G>C (p.Gln536His)
c.*732G>C (n.*732G>C)
c.*1267G>C (n.*1267G>C)
c.1820G>C (n.1820G>C)
c.1440G>C (p.Gln480His)
c.1488G>C (p.Gln496His)
c.1584G>C (p.Gln528His)
c.1530G>C (p.Gln510His)
c.1491G>C (p.Gln497His)
18g.33739012G=CA2294855782ASXL3c.1611G= (p.Gln537=)
c.1608G= (p.Gln536=)
c.*732G= (n.*732G=)
c.*1267G= (n.*1267G=)
c.1820G= (n.1820G=)
c.1440G= (p.Gln480=)
c.1488G= (p.Gln496=)
c.1584G= (p.Gln528=)
c.1530G= (p.Gln510=)
c.1491G= (p.Gln497=)
18g.33739012G>TCA402175955ASXL3c.1611G>T (p.Gln537His)
c.1608G>T (p.Gln536His)
c.*732G>T (n.*732G>T)
c.*1267G>T (n.*1267G>T)
c.1820G>T (n.1820G>T)
c.1440G>T (p.Gln480His)
c.1488G>T (p.Gln496His)
c.1584G>T (p.Gln528His)
c.1530G>T (p.Gln510His)
c.1491G>T (p.Gln497His)
18g.33739013T>ACA402175956ASXL3c.1612T>A (p.Leu538Ile)
c.1609T>A (p.Leu537Ile)
c.*733T>A (n.*733T>A)
c.*1268T>A (n.*1268T>A)
c.1821T>A (n.1821T>A)
c.1441T>A (p.Leu481Ile)
c.1489T>A (p.Leu497Ile)
c.1585T>A (p.Leu529Ile)
c.1531T>A (p.Leu511Ile)
c.1492T>A (p.Leu498Ile)
18g.33739013T>CCA503768722ASXL3c.1612T>C (p.Leu538=)
c.1609T>C (p.Leu537=)
c.*733T>C (n.*733T>C)
c.*1268T>C (n.*1268T>C)
c.1821T>C (n.1821T>C)
c.1441T>C (p.Leu481=)
c.1489T>C (p.Leu497=)
c.1585T>C (p.Leu529=)
c.1531T>C (p.Leu511=)
c.1492T>C (p.Leu498=)
18g.33739013T>GCA402175957ASXL3c.1612T>G (p.Leu538Val)
c.1609T>G (p.Leu537Val)
c.*733T>G (n.*733T>G)
c.*1268T>G (n.*1268T>G)
c.1821T>G (n.1821T>G)
c.1441T>G (p.Leu481Val)
c.1489T>G (p.Leu497Val)
c.1585T>G (p.Leu529Val)
c.1531T>G (p.Leu511Val)
c.1492T>G (p.Leu498Val)
18g.33739013_33739014insACACA2812055521ASXL3c.1612_1613insACA (p.Leu538delinsTyrIle)
c.1609_1610insACA (p.Leu537delinsTyrIle)
c.*733_*734insACA (n.*733_*734insACA)
c.*1268_*1269insACA (n.*1268_*1269insACA)
c.1821_1822insACA (n.1821_1822insACA)
c.1441_1442insACA (p.Leu481delinsTyrIle)
c.1489_1490insACA (p.Leu497delinsTyrIle)
c.1585_1586insACA (p.Leu529delinsTyrIle)
c.1531_1532insACA (p.Leu511delinsTyrIle)
c.1492_1493insACA (p.Leu498delinsTyrIle)
18g.33739014T>ACA402175958ASXL3c.1613T>A (p.Leu538Ter)
c.1610T>A (p.Leu537Ter)
c.*734T>A (n.*734T>A)
c.*1269T>A (n.*1269T>A)
c.1822T>A (n.1822T>A)
c.1442T>A (p.Leu481Ter)
c.1490T>A (p.Leu497Ter)
c.1586T>A (p.Leu529Ter)
c.1532T>A (p.Leu511Ter)
c.1493T>A (p.Leu498Ter)
18g.33739014T>CCA402175959ASXL3c.1613T>C (p.Leu538Ser)
c.1610T>C (p.Leu537Ser)
c.*734T>C (n.*734T>C)
c.*1269T>C (n.*1269T>C)
c.1822T>C (n.1822T>C)
c.1442T>C (p.Leu481Ser)
c.1490T>C (p.Leu497Ser)
c.1586T>C (p.Leu529Ser)
c.1532T>C (p.Leu511Ser)
c.1493T>C (p.Leu498Ser)
18g.33739014T>GCA402175960ASXL3c.1613T>G (p.Leu538Ter)
c.1610T>G (p.Leu537Ter)
c.*734T>G (n.*734T>G)
c.*1269T>G (n.*1269T>G)
c.1822T>G (n.1822T>G)
c.1442T>G (p.Leu481Ter)
c.1490T>G (p.Leu497Ter)
c.1586T>G (p.Leu529Ter)
c.1532T>G (p.Leu511Ter)
c.1493T>G (p.Leu498Ter)
18g.33739015A>CCA402175961ASXL3c.1614A>C (p.Leu538Phe)
c.1611A>C (p.Leu537Phe)
c.*735A>C (n.*735A>C)
c.*1270A>C (n.*1270A>C)
c.1823A>C (n.1823A>C)
c.1443A>C (p.Leu481Phe)
c.1491A>C (p.Leu497Phe)
c.1587A>C (p.Leu529Phe)
c.1533A>C (p.Leu511Phe)
c.1494A>C (p.Leu498Phe)
gnomAD v4
18g.33739015A>GCA503768725ASXL3c.1614A>G (p.Leu538=)
c.1611A>G (p.Leu537=)
c.*735A>G (n.*735A>G)
c.*1270A>G (n.*1270A>G)
c.1823A>G (n.1823A>G)
c.1443A>G (p.Leu481=)
c.1491A>G (p.Leu497=)
c.1587A>G (p.Leu529=)
c.1533A>G (p.Leu511=)
c.1494A>G (p.Leu498=)
18g.33739015A>TCA402175962ASXL3c.1614A>T (p.Leu538Phe)
c.1611A>T (p.Leu537Phe)
c.*735A>T (n.*735A>T)
c.*1270A>T (n.*1270A>T)
c.1823A>T (n.1823A>T)
c.1443A>T (p.Leu481Phe)
c.1491A>T (p.Leu497Phe)
c.1587A>T (p.Leu529Phe)
c.1533A>T (p.Leu511Phe)
c.1494A>T (p.Leu498Phe)
18g.33739016G>ACA402175963ASXL3c.1615G>A (p.Glu539Lys)
c.1612G>A (p.Glu538Lys)
c.*736G>A (n.*736G>A)
c.*1271G>A (n.*1271G>A)
c.1824G>A (n.1824G>A)
c.1444G>A (p.Glu482Lys)
c.1492G>A (p.Glu498Lys)
c.1588G>A (p.Glu530Lys)
c.1534G>A (p.Glu512Lys)
c.1495G>A (p.Glu499Lys)
18g.33739016G>CCA402175964ASXL3c.1615G>C (p.Glu539Gln)
c.1612G>C (p.Glu538Gln)
c.*736G>C (n.*736G>C)
c.*1271G>C (n.*1271G>C)
c.1824G>C (n.1824G>C)
c.1444G>C (p.Glu482Gln)
c.1492G>C (p.Glu498Gln)
c.1588G>C (p.Glu530Gln)
c.1534G>C (p.Glu512Gln)
c.1495G>C (p.Glu499Gln)
18g.33739016G=CA2294855783ASXL3c.1615G= (p.Glu539=)
c.1612G= (p.Glu538=)
c.*736G= (n.*736G=)
c.*1271G= (n.*1271G=)
c.1824G= (n.1824G=)
c.1444G= (p.Glu482=)
c.1492G= (p.Glu498=)
c.1588G= (p.Glu530=)
c.1534G= (p.Glu512=)
c.1495G= (p.Glu499=)
18g.33739016G>TCA402175965ASXL3c.1615G>T (p.Glu539Ter)
c.1612G>T (p.Glu538Ter)
c.*736G>T (n.*736G>T)
c.*1271G>T (n.*1271G>T)
c.1824G>T (n.1824G>T)
c.1444G>T (p.Glu482Ter)
c.1492G>T (p.Glu498Ter)
c.1588G>T (p.Glu530Ter)
c.1534G>T (p.Glu512Ter)
c.1495G>T (p.Glu499Ter)
ClinVar dbSNP
18g.33739017A>CCA402175966ASXL3c.1616A>C (p.Glu539Ala)
c.1613A>C (p.Glu538Ala)
c.*737A>C (n.*737A>C)
c.*1272A>C (n.*1272A>C)
c.1825A>C (n.1825A>C)
c.1445A>C (p.Glu482Ala)
c.1493A>C (p.Glu498Ala)
c.1589A>C (p.Glu530Ala)
c.1535A>C (p.Glu512Ala)
c.1496A>C (p.Glu499Ala)
18g.33739017A>GCA402175967ASXL3c.1616A>G (p.Glu539Gly)
c.1613A>G (p.Glu538Gly)
c.*737A>G (n.*737A>G)
c.*1272A>G (n.*1272A>G)
c.1825A>G (n.1825A>G)
c.1445A>G (p.Glu482Gly)
c.1493A>G (p.Glu498Gly)
c.1589A>G (p.Glu530Gly)
c.1535A>G (p.Glu512Gly)
c.1496A>G (p.Glu499Gly)
18g.33739017A>TCA402175968ASXL3c.1616A>T (p.Glu539Val)
c.1613A>T (p.Glu538Val)
c.*737A>T (n.*737A>T)
c.*1272A>T (n.*1272A>T)
c.1825A>T (n.1825A>T)
c.1445A>T (p.Glu482Val)
c.1493A>T (p.Glu498Val)
c.1589A>T (p.Glu530Val)
c.1535A>T (p.Glu512Val)
c.1496A>T (p.Glu499Val)
18g.33739018A>CCA402175969ASXL3c.1617A>C (p.Glu539Asp)
c.1614A>C (p.Glu538Asp)
c.*738A>C (n.*738A>C)
c.*1273A>C (n.*1273A>C)
c.1826A>C (n.1826A>C)
c.1446A>C (p.Glu482Asp)
c.1494A>C (p.Glu498Asp)
c.1590A>C (p.Glu530Asp)
c.1536A>C (p.Glu512Asp)
c.1497A>C (p.Glu499Asp)
COSMIC COSMIC
18g.33739018A>GCA503768727ASXL3c.1617A>G (p.Glu539=)
c.1614A>G (p.Glu538=)
c.*738A>G (n.*738A>G)
c.*1273A>G (n.*1273A>G)
c.1826A>G (n.1826A>G)
c.1446A>G (p.Glu482=)
c.1494A>G (p.Glu498=)
c.1590A>G (p.Glu530=)
c.1536A>G (p.Glu512=)
c.1497A>G (p.Glu499=)
18g.33739018A>TCA402175970ASXL3c.1617A>T (p.Glu539Asp)
c.1614A>T (p.Glu538Asp)
c.*738A>T (n.*738A>T)
c.*1273A>T (n.*1273A>T)
c.1826A>T (n.1826A>T)
c.1446A>T (p.Glu482Asp)
c.1494A>T (p.Glu498Asp)
c.1590A>T (p.Glu530Asp)
c.1536A>T (p.Glu512Asp)
c.1497A>T (p.Glu499Asp)
18g.33739019G>ACA8933781ASXL3c.1618G>A (p.Val540Ile)
c.1615G>A (p.Val539Ile)
c.*739G>A (n.*739G>A)
c.*1274G>A (n.*1274G>A)
c.1827G>A (n.1827G>A)
c.1447G>A (p.Val483Ile)
c.1495G>A (p.Val499Ile)
c.1591G>A (p.Val531Ile)
c.1537G>A (p.Val513Ile)
c.1498G>A (p.Val500Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739019G>CCA402175972ASXL3c.1618G>C (p.Val540Leu)
c.1615G>C (p.Val539Leu)
c.*739G>C (n.*739G>C)
c.*1274G>C (n.*1274G>C)
c.1827G>C (n.1827G>C)
c.1447G>C (p.Val483Leu)
c.1495G>C (p.Val499Leu)
c.1591G>C (p.Val531Leu)
c.1537G>C (p.Val513Leu)
c.1498G>C (p.Val500Leu)
18g.33739019G=CA2294855784ASXL3c.1618G= (p.Val540=)
c.1615G= (p.Val539=)
c.*739G= (n.*739G=)
c.*1274G= (n.*1274G=)
c.1827G= (n.1827G=)
c.1447G= (p.Val483=)
c.1495G= (p.Val499=)
c.1591G= (p.Val531=)
c.1537G= (p.Val513=)
c.1498G= (p.Val500=)
18g.33739019G>TCA402175971ASXL3c.1618G>T (p.Val540Phe)
c.1615G>T (p.Val539Phe)
c.*739G>T (n.*739G>T)
c.*1274G>T (n.*1274G>T)
c.1827G>T (n.1827G>T)
c.1447G>T (p.Val483Phe)
c.1495G>T (p.Val499Phe)
c.1591G>T (p.Val531Phe)
c.1537G>T (p.Val513Phe)
c.1498G>T (p.Val500Phe)
18g.33739020T>ACA402175973ASXL3c.1619T>A (p.Val540Asp)
c.1616T>A (p.Val539Asp)
c.*740T>A (n.*740T>A)
c.*1275T>A (n.*1275T>A)
c.1828T>A (n.1828T>A)
c.1448T>A (p.Val483Asp)
c.1496T>A (p.Val499Asp)
c.1592T>A (p.Val531Asp)
c.1538T>A (p.Val513Asp)
c.1499T>A (p.Val500Asp)
18g.33739020T>CCA8933782ASXL3c.1619T>C (p.Val540Ala)
c.1616T>C (p.Val539Ala)
c.*740T>C (n.*740T>C)
c.*1275T>C (n.*1275T>C)
c.1828T>C (n.1828T>C)
c.1448T>C (p.Val483Ala)
c.1496T>C (p.Val499Ala)
c.1592T>C (p.Val531Ala)
c.1538T>C (p.Val513Ala)
c.1499T>C (p.Val500Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739020T>GCA402175974ASXL3c.1619T>G (p.Val540Gly)
c.1616T>G (p.Val539Gly)
c.*740T>G (n.*740T>G)
c.*1275T>G (n.*1275T>G)
c.1828T>G (n.1828T>G)
c.1448T>G (p.Val483Gly)
c.1496T>G (p.Val499Gly)
c.1592T>G (p.Val531Gly)
c.1538T>G (p.Val513Gly)
c.1499T>G (p.Val500Gly)
gnomAD v4
18g.33739020T=CA2294855785ASXL3c.1619T= (p.Val540=)
c.1616T= (p.Val539=)
c.*740T= (n.*740T=)
c.*1275T= (n.*1275T=)
c.1828T= (n.1828T=)
c.1448T= (p.Val483=)
c.1496T= (p.Val499=)
c.1592T= (p.Val531=)
c.1538T= (p.Val513=)
c.1499T= (p.Val500=)
18g.33739021C>ACA503768731ASXL3c.1620C>A (p.Val540=)
c.1617C>A (p.Val539=)
c.*741C>A (n.*741C>A)
c.*1276C>A (n.*1276C>A)
c.1829C>A (n.1829C>A)
c.1449C>A (p.Val483=)
c.1497C>A (p.Val499=)
c.1593C>A (p.Val531=)
c.1539C>A (p.Val513=)
c.1500C>A (p.Val500=)
18g.33739021C>GCA503768732ASXL3c.1620C>G (p.Val540=)
c.1617C>G (p.Val539=)
c.*741C>G (n.*741C>G)
c.*1276C>G (n.*1276C>G)
c.1829C>G (n.1829C>G)
c.1449C>G (p.Val483=)
c.1497C>G (p.Val499=)
c.1593C>G (p.Val531=)
c.1539C>G (p.Val513=)
c.1500C>G (p.Val500=)
gnomAD v4
18g.33739021C>TCA503768733ASXL3c.1620C>T (p.Val540=)
c.1617C>T (p.Val539=)
c.*741C>T (n.*741C>T)
c.*1276C>T (n.*1276C>T)
c.1829C>T (n.1829C>T)
c.1449C>T (p.Val483=)
c.1497C>T (p.Val499=)
c.1593C>T (p.Val531=)
c.1539C>T (p.Val513=)
c.1500C>T (p.Val500=)
18g.33739022T>ACA402175975ASXL3c.1621T>A (p.Cys541Ser)
c.1618T>A (p.Cys540Ser)
c.*742T>A (n.*742T>A)
c.*1277T>A (n.*1277T>A)
c.1830T>A (n.1830T>A)
c.1450T>A (p.Cys484Ser)
c.1498T>A (p.Cys500Ser)
c.1594T>A (p.Cys532Ser)
c.1540T>A (p.Cys514Ser)
c.1501T>A (p.Cys501Ser)
18g.33739022T>CCA402175977ASXL3c.1621T>C (p.Cys541Arg)
c.1618T>C (p.Cys540Arg)
c.*742T>C (n.*742T>C)
c.*1277T>C (n.*1277T>C)
c.1830T>C (n.1830T>C)
c.1450T>C (p.Cys484Arg)
c.1498T>C (p.Cys500Arg)
c.1594T>C (p.Cys532Arg)
c.1540T>C (p.Cys514Arg)
c.1501T>C (p.Cys501Arg)
dbSNP gnomAD v2 gnomAD v4
18g.33739022T>GCA402175976ASXL3c.1621T>G (p.Cys541Gly)
c.1618T>G (p.Cys540Gly)
c.*742T>G (n.*742T>G)
c.*1277T>G (n.*1277T>G)
c.1830T>G (n.1830T>G)
c.1450T>G (p.Cys484Gly)
c.1498T>G (p.Cys500Gly)
c.1594T>G (p.Cys532Gly)
c.1540T>G (p.Cys514Gly)
c.1501T>G (p.Cys501Gly)
gnomAD v4
18g.33739022T=CA2294855786ASXL3c.1621T= (p.Cys541=)
c.1618T= (p.Cys540=)
c.*742T= (n.*742T=)
c.*1277T= (n.*1277T=)
c.1830T= (n.1830T=)
c.1450T= (p.Cys484=)
c.1498T= (p.Cys500=)
c.1594T= (p.Cys532=)
c.1540T= (p.Cys514=)
c.1501T= (p.Cys501=)
18g.33739023G>ACA402175978ASXL3c.1622G>A (p.Cys541Tyr)
c.1619G>A (p.Cys540Tyr)
c.*743G>A (n.*743G>A)
c.*1278G>A (n.*1278G>A)
c.1831G>A (n.1831G>A)
c.1451G>A (p.Cys484Tyr)
c.1499G>A (p.Cys500Tyr)
c.1595G>A (p.Cys532Tyr)
c.1541G>A (p.Cys514Tyr)
c.1502G>A (p.Cys501Tyr)
18g.33739023G>CCA402175980ASXL3c.1622G>C (p.Cys541Ser)
c.1619G>C (p.Cys540Ser)
c.*743G>C (n.*743G>C)
c.*1278G>C (n.*1278G>C)
c.1831G>C (n.1831G>C)
c.1451G>C (p.Cys484Ser)
c.1499G>C (p.Cys500Ser)
c.1595G>C (p.Cys532Ser)
c.1541G>C (p.Cys514Ser)
c.1502G>C (p.Cys501Ser)
18g.33739023G>TCA402175979ASXL3c.1622G>T (p.Cys541Phe)
c.1619G>T (p.Cys540Phe)
c.*743G>T (n.*743G>T)
c.*1278G>T (n.*1278G>T)
c.1831G>T (n.1831G>T)
c.1451G>T (p.Cys484Phe)
c.1499G>T (p.Cys500Phe)
c.1595G>T (p.Cys532Phe)
c.1541G>T (p.Cys514Phe)
c.1502G>T (p.Cys501Phe)
18g.33739024T>ACA402175981ASXL3c.1623T>A (p.Cys541Ter)
c.1620T>A (p.Cys540Ter)
c.*744T>A (n.*744T>A)
c.*1279T>A (n.*1279T>A)
c.1832T>A (n.1832T>A)
c.1452T>A (p.Cys484Ter)
c.1500T>A (p.Cys500Ter)
c.1596T>A (p.Cys532Ter)
c.1542T>A (p.Cys514Ter)
c.1503T>A (p.Cys501Ter)
18g.33739024T>CCA503768737ASXL3c.1623T>C (p.Cys541=)
c.1620T>C (p.Cys540=)
c.*744T>C (n.*744T>C)
c.*1279T>C (n.*1279T>C)
c.1832T>C (n.1832T>C)
c.1452T>C (p.Cys484=)
c.1500T>C (p.Cys500=)
c.1596T>C (p.Cys532=)
c.1542T>C (p.Cys514=)
c.1503T>C (p.Cys501=)
18g.33739024T>GCA402175982ASXL3c.1623T>G (p.Cys541Trp)
c.1620T>G (p.Cys540Trp)
c.*744T>G (n.*744T>G)
c.*1279T>G (n.*1279T>G)
c.1832T>G (n.1832T>G)
c.1452T>G (p.Cys484Trp)
c.1500T>G (p.Cys500Trp)
c.1596T>G (p.Cys532Trp)
c.1542T>G (p.Cys514Trp)
c.1503T>G (p.Cys501Trp)
18g.33739025G>ACA8933783ASXL3c.1624G>A (p.Asp542Asn)
c.1621G>A (p.Asp541Asn)
c.*745G>A (n.*745G>A)
c.*1280G>A (n.*1280G>A)
c.1833G>A (n.1833G>A)
c.1453G>A (p.Asp485Asn)
c.1501G>A (p.Asp501Asn)
c.1597G>A (p.Asp533Asn)
c.1543G>A (p.Asp515Asn)
c.1504G>A (p.Asp502Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739025G>CCA402175983ASXL3c.1624G>C (p.Asp542His)
c.1621G>C (p.Asp541His)
c.*745G>C (n.*745G>C)
c.*1280G>C (n.*1280G>C)
c.1833G>C (n.1833G>C)
c.1453G>C (p.Asp485His)
c.1501G>C (p.Asp501His)
c.1597G>C (p.Asp533His)
c.1543G>C (p.Asp515His)
c.1504G>C (p.Asp502His)
18g.33739025G=CA2294855787ASXL3c.1624G= (p.Asp542=)
c.1621G= (p.Asp541=)
c.*745G= (n.*745G=)
c.*1280G= (n.*1280G=)
c.1833G= (n.1833G=)
c.1453G= (p.Asp485=)
c.1501G= (p.Asp501=)
c.1597G= (p.Asp533=)
c.1543G= (p.Asp515=)
c.1504G= (p.Asp502=)
18g.33739025G>TCA402175984ASXL3c.1624G>T (p.Asp542Tyr)
c.1621G>T (p.Asp541Tyr)
c.*745G>T (n.*745G>T)
c.*1280G>T (n.*1280G>T)
c.1833G>T (n.1833G>T)
c.1453G>T (p.Asp485Tyr)
c.1501G>T (p.Asp501Tyr)
c.1597G>T (p.Asp533Tyr)
c.1543G>T (p.Asp515Tyr)
c.1504G>T (p.Asp502Tyr)
18g.33739026A>CCA402175985ASXL3c.1625A>C (p.Asp542Ala)
c.1622A>C (p.Asp541Ala)
c.*746A>C (n.*746A>C)
c.*1281A>C (n.*1281A>C)
c.1834A>C (n.1834A>C)
c.1454A>C (p.Asp485Ala)
c.1502A>C (p.Asp501Ala)
c.1598A>C (p.Asp533Ala)
c.1544A>C (p.Asp515Ala)
c.1505A>C (p.Asp502Ala)
gnomAD v4
18g.33739026A>GCA402175986ASXL3c.1625A>G (p.Asp542Gly)
c.1622A>G (p.Asp541Gly)
c.*746A>G (n.*746A>G)
c.*1281A>G (n.*1281A>G)
c.1834A>G (n.1834A>G)
c.1454A>G (p.Asp485Gly)
c.1502A>G (p.Asp501Gly)
c.1598A>G (p.Asp533Gly)
c.1544A>G (p.Asp515Gly)
c.1505A>G (p.Asp502Gly)
18g.33739026A>TCA402175987ASXL3c.1625A>T (p.Asp542Val)
c.1622A>T (p.Asp541Val)
c.*746A>T (n.*746A>T)
c.*1281A>T (n.*1281A>T)
c.1834A>T (n.1834A>T)
c.1454A>T (p.Asp485Val)
c.1502A>T (p.Asp501Val)
c.1598A>T (p.Asp533Val)
c.1544A>T (p.Asp515Val)
c.1505A>T (p.Asp502Val)
18g.33739026_33739028delinsACTCA2294855788ASXL3c.1625_1627delinsACT (p.Asp542=)
c.1622_1624delinsACT (p.Asp541=)
c.*746_*748delinsACT (n.*746_*748delinsACT)
c.*1281_*1283delinsACT (n.*1281_*1283delinsACT)
c.1834_1836delinsACT (n.1834_1836delinsACT)
c.1454_1456delinsACT (p.Asp485=)
c.1502_1504delinsACT (p.Asp501=)
c.1598_1600delinsACT (p.Asp533=)
c.1544_1546delinsACT (p.Asp515=)
c.1505_1507delinsACT (p.Asp502=)
18g.33739027C>ACA402175988ASXL3c.1626C>A (p.Asp542Glu)
c.1623C>A (p.Asp541Glu)
c.*747C>A (n.*747C>A)
c.*1282C>A (n.*1282C>A)
c.1835C>A (n.1835C>A)
c.1455C>A (p.Asp485Glu)
c.1503C>A (p.Asp501Glu)
c.1599C>A (p.Asp533Glu)
c.1545C>A (p.Asp515Glu)
c.1506C>A (p.Asp502Glu)
18g.33739027C=CA2294855789ASXL3c.1626C= (p.Asp542=)
c.1623C= (p.Asp541=)
c.*747C= (n.*747C=)
c.*1282C= (n.*1282C=)
c.1835C= (n.1835C=)
c.1455C= (p.Asp485=)
c.1503C= (p.Asp501=)
c.1599C= (p.Asp533=)
c.1545C= (p.Asp515=)
c.1506C= (p.Asp502=)
18g.33739027C>GCA402175989ASXL3c.1626C>G (p.Asp542Glu)
c.1623C>G (p.Asp541Glu)
c.*747C>G (n.*747C>G)
c.*1282C>G (n.*1282C>G)
c.1835C>G (n.1835C>G)
c.1455C>G (p.Asp485Glu)
c.1503C>G (p.Asp501Glu)
c.1599C>G (p.Asp533Glu)
c.1545C>G (p.Asp515Glu)
c.1506C>G (p.Asp502Glu)
18g.33739027C>TCA503768741ASXL3c.1626C>T (p.Asp542=)
c.1623C>T (p.Asp541=)
c.*747C>T (n.*747C>T)
c.*1282C>T (n.*1282C>T)
c.1835C>T (n.1835C>T)
c.1455C>T (p.Asp485=)
c.1503C>T (p.Asp501=)
c.1599C>T (p.Asp533=)
c.1545C>T (p.Asp515=)
c.1506C>T (p.Asp502=)
dbSNP
18g.33739031_33739032delCA645294121ASXL3c.1630_1631del (p.Leu544TyrfsTer12)
c.1627_1628del (p.Leu543TyrfsTer12)
c.*751_*752del (n.*751_*752del)
c.*1286_*1287del (n.*1286_*1287del)
c.1839_1840del (n.1839_1840del)
c.1459_1460del (p.Leu487TyrfsTer12)
c.1507_1508del (p.Leu503TyrfsTer12)
c.1603_1604del (p.Leu535TyrfsTer12)
c.1549_1550del (p.Leu517TyrfsTer12)
c.1510_1511del (p.Leu504TyrfsTer12)
ClinVar dbSNP
18g.33739028T>ACA402175990ASXL3c.1627T>A (p.Ser543Thr)
c.1624T>A (p.Ser542Thr)
c.*748T>A (n.*748T>A)
c.*1283T>A (n.*1283T>A)
c.1836T>A (n.1836T>A)
c.1456T>A (p.Ser486Thr)
c.1504T>A (p.Ser502Thr)
c.1600T>A (p.Ser534Thr)
c.1546T>A (p.Ser516Thr)
c.1507T>A (p.Ser503Thr)
18g.33739028T>CCA402175991ASXL3c.1627T>C (p.Ser543Pro)
c.1624T>C (p.Ser542Pro)
c.*748T>C (n.*748T>C)
c.*1283T>C (n.*1283T>C)
c.1836T>C (n.1836T>C)
c.1456T>C (p.Ser486Pro)
c.1504T>C (p.Ser502Pro)
c.1600T>C (p.Ser534Pro)
c.1546T>C (p.Ser516Pro)
c.1507T>C (p.Ser503Pro)
18g.33739028T>GCA402175992ASXL3c.1627T>G (p.Ser543Ala)
c.1624T>G (p.Ser542Ala)
c.*748T>G (n.*748T>G)
c.*1283T>G (n.*1283T>G)
c.1836T>G (n.1836T>G)
c.1456T>G (p.Ser486Ala)
c.1504T>G (p.Ser502Ala)
c.1600T>G (p.Ser534Ala)
c.1546T>G (p.Ser516Ala)
c.1507T>G (p.Ser503Ala)
dbSNP
18g.33739028T=CA2294855790ASXL3c.1627T= (p.Ser543=)
c.1624T= (p.Ser542=)
c.*748T= (n.*748T=)
c.*1283T= (n.*1283T=)
c.1836T= (n.1836T=)
c.1456T= (p.Ser486=)
c.1504T= (p.Ser502=)
c.1600T= (p.Ser534=)
c.1546T= (p.Ser516=)
c.1507T= (p.Ser503=)
18g.33739029C>ACA402175995ASXL3c.1628C>A (p.Ser543Tyr)
c.1625C>A (p.Ser542Tyr)
c.*749C>A (n.*749C>A)
c.*1284C>A (n.*1284C>A)
c.1837C>A (n.1837C>A)
c.1457C>A (p.Ser486Tyr)
c.1505C>A (p.Ser502Tyr)
c.1601C>A (p.Ser534Tyr)
c.1547C>A (p.Ser516Tyr)
c.1508C>A (p.Ser503Tyr)
18g.33739029C>GCA402175994ASXL3c.1628C>G (p.Ser543Cys)
c.1625C>G (p.Ser542Cys)
c.*749C>G (n.*749C>G)
c.*1284C>G (n.*1284C>G)
c.1837C>G (n.1837C>G)
c.1457C>G (p.Ser486Cys)
c.1505C>G (p.Ser502Cys)
c.1601C>G (p.Ser534Cys)
c.1547C>G (p.Ser516Cys)
c.1508C>G (p.Ser503Cys)
18g.33739029C>TCA402175993ASXL3c.1628C>T (p.Ser543Phe)
c.1625C>T (p.Ser542Phe)
c.*749C>T (n.*749C>T)
c.*1284C>T (n.*1284C>T)
c.1837C>T (n.1837C>T)
c.1457C>T (p.Ser486Phe)
c.1505C>T (p.Ser502Phe)
c.1601C>T (p.Ser534Phe)
c.1547C>T (p.Ser516Phe)
c.1508C>T (p.Ser503Phe)
18g.33739030T>ACA503768743ASXL3c.1629T>A (p.Ser543=)
c.1626T>A (p.Ser542=)
c.*750T>A (n.*750T>A)
c.*1285T>A (n.*1285T>A)
c.1838T>A (n.1838T>A)
c.1458T>A (p.Ser486=)
c.1506T>A (p.Ser502=)
c.1602T>A (p.Ser534=)
c.1548T>A (p.Ser516=)
c.1509T>A (p.Ser503=)
18g.33739030T>CCA503768745ASXL3c.1629T>C (p.Ser543=)
c.1626T>C (p.Ser542=)
c.*750T>C (n.*750T>C)
c.*1285T>C (n.*1285T>C)
c.1838T>C (n.1838T>C)
c.1458T>C (p.Ser486=)
c.1506T>C (p.Ser502=)
c.1602T>C (p.Ser534=)
c.1548T>C (p.Ser516=)
c.1509T>C (p.Ser503=)
18g.33739030T>GCA503768746ASXL3c.1629T>G (p.Ser543=)
c.1626T>G (p.Ser542=)
c.*750T>G (n.*750T>G)
c.*1285T>G (n.*1285T>G)
c.1838T>G (n.1838T>G)
c.1458T>G (p.Ser486=)
c.1506T>G (p.Ser502=)
c.1602T>G (p.Ser534=)
c.1548T>G (p.Ser516=)
c.1509T>G (p.Ser503=)
18g.33739031C>ACA402175996ASXL3c.1630C>A (p.Leu544Ile)
c.1627C>A (p.Leu543Ile)
c.*751C>A (n.*751C>A)
c.*1286C>A (n.*1286C>A)
c.1839C>A (n.1839C>A)
c.1459C>A (p.Leu487Ile)
c.1507C>A (p.Leu503Ile)
c.1603C>A (p.Leu535Ile)
c.1549C>A (p.Leu517Ile)
c.1510C>A (p.Leu504Ile)
18g.33739031C>GCA402175997ASXL3c.1630C>G (p.Leu544Val)
c.1627C>G (p.Leu543Val)
c.*751C>G (n.*751C>G)
c.*1286C>G (n.*1286C>G)
c.1839C>G (n.1839C>G)
c.1459C>G (p.Leu487Val)
c.1507C>G (p.Leu503Val)
c.1603C>G (p.Leu535Val)
c.1549C>G (p.Leu517Val)
c.1510C>G (p.Leu504Val)
18g.33739031C>TCA402175998ASXL3c.1630C>T (p.Leu544Phe)
c.1627C>T (p.Leu543Phe)
c.*751C>T (n.*751C>T)
c.*1286C>T (n.*1286C>T)
c.1839C>T (n.1839C>T)
c.1459C>T (p.Leu487Phe)
c.1507C>T (p.Leu503Phe)
c.1603C>T (p.Leu535Phe)
c.1549C>T (p.Leu517Phe)
c.1510C>T (p.Leu504Phe)
18g.33739032T>ACA402175999ASXL3c.1631T>A (p.Leu544His)
c.1628T>A (p.Leu543His)
c.*752T>A (n.*752T>A)
c.*1287T>A (n.*1287T>A)
c.1840T>A (n.1840T>A)
c.1460T>A (p.Leu487His)
c.1508T>A (p.Leu503His)
c.1604T>A (p.Leu535His)
c.1550T>A (p.Leu517His)
c.1511T>A (p.Leu504His)
18g.33739032T>CCA402176000ASXL3c.1631T>C (p.Leu544Pro)
c.1628T>C (p.Leu543Pro)
c.*752T>C (n.*752T>C)
c.*1287T>C (n.*1287T>C)
c.1840T>C (n.1840T>C)
c.1460T>C (p.Leu487Pro)
c.1508T>C (p.Leu503Pro)
c.1604T>C (p.Leu535Pro)
c.1550T>C (p.Leu517Pro)
c.1511T>C (p.Leu504Pro)
18g.33739032T>GCA402176001ASXL3c.1631T>G (p.Leu544Arg)
c.1628T>G (p.Leu543Arg)
c.*752T>G (n.*752T>G)
c.*1287T>G (n.*1287T>G)
c.1840T>G (n.1840T>G)
c.1460T>G (p.Leu487Arg)
c.1508T>G (p.Leu503Arg)
c.1604T>G (p.Leu535Arg)
c.1550T>G (p.Leu517Arg)
c.1511T>G (p.Leu504Arg)
18g.33739032_33739033delCA2580095657ASXL3c.1631_1632del (p.Leu544HisfsTer12)
c.1628_1629del (p.Leu543HisfsTer12)
c.*752_*753del (n.*752_*753del)
c.*1287_*1288del (n.*1287_*1288del)
c.1840_1841del (n.1840_1841del)
c.1460_1461del (p.Leu487HisfsTer12)
c.1508_1509del (p.Leu503HisfsTer12)
c.1604_1605del (p.Leu535HisfsTer12)
c.1550_1551del (p.Leu517HisfsTer12)
c.1511_1512del (p.Leu504HisfsTer12)
ClinVar
18g.33739033T>ACA503768751ASXL3c.1632T>A (p.Leu544=)
c.1629T>A (p.Leu543=)
c.*753T>A (n.*753T>A)
c.*1288T>A (n.*1288T>A)
c.1841T>A (n.1841T>A)
c.1461T>A (p.Leu487=)
c.1509T>A (p.Leu503=)
c.1605T>A (p.Leu535=)
c.1551T>A (p.Leu517=)
c.1512T>A (p.Leu504=)
18g.33739033T>CCA503768752ASXL3c.1632T>C (p.Leu544=)
c.1629T>C (p.Leu543=)
c.*753T>C (n.*753T>C)
c.*1288T>C (n.*1288T>C)
c.1841T>C (n.1841T>C)
c.1461T>C (p.Leu487=)
c.1509T>C (p.Leu503=)
c.1605T>C (p.Leu535=)
c.1551T>C (p.Leu517=)
c.1512T>C (p.Leu504=)
18g.33739033T>GCA503768753ASXL3c.1632T>G (p.Leu544=)
c.1629T>G (p.Leu543=)
c.*753T>G (n.*753T>G)
c.*1288T>G (n.*1288T>G)
c.1841T>G (n.1841T>G)
c.1461T>G (p.Leu487=)
c.1509T>G (p.Leu503=)
c.1605T>G (p.Leu535=)
c.1551T>G (p.Leu517=)
c.1512T>G (p.Leu504=)
18g.33739034A>CCA402176002ASXL3c.1633A>C (p.Ile545Leu)
c.1630A>C (p.Ile544Leu)
c.*754A>C (n.*754A>C)
c.*1289A>C (n.*1289A>C)
c.1842A>C (n.1842A>C)
c.1462A>C (p.Ile488Leu)
c.1510A>C (p.Ile504Leu)
c.1606A>C (p.Ile536Leu)
c.1552A>C (p.Ile518Leu)
c.1513A>C (p.Ile505Leu)
18g.33739034A>GCA402176003ASXL3c.1633A>G (p.Ile545Val)
c.1630A>G (p.Ile544Val)
c.*754A>G (n.*754A>G)
c.*1289A>G (n.*1289A>G)
c.1842A>G (n.1842A>G)
c.1462A>G (p.Ile488Val)
c.1510A>G (p.Ile504Val)
c.1606A>G (p.Ile536Val)
c.1552A>G (p.Ile518Val)
c.1513A>G (p.Ile505Val)
gnomAD v4
18g.33739034A>TCA402176004ASXL3c.1633A>T (p.Ile545Phe)
c.1630A>T (p.Ile544Phe)
c.*754A>T (n.*754A>T)
c.*1289A>T (n.*1289A>T)
c.1842A>T (n.1842A>T)
c.1462A>T (p.Ile488Phe)
c.1510A>T (p.Ile504Phe)
c.1606A>T (p.Ile536Phe)
c.1552A>T (p.Ile518Phe)
c.1513A>T (p.Ile505Phe)
18g.33739035T>ACA402176005ASXL3c.1634T>A (p.Ile545Asn)
c.1631T>A (p.Ile544Asn)
c.*755T>A (n.*755T>A)
c.*1290T>A (n.*1290T>A)
c.1843T>A (n.1843T>A)
c.1463T>A (p.Ile488Asn)
c.1511T>A (p.Ile504Asn)
c.1607T>A (p.Ile536Asn)
c.1553T>A (p.Ile518Asn)
c.1514T>A (p.Ile505Asn)
18g.33739035T>CCA402176006ASXL3c.1634T>C (p.Ile545Thr)
c.1631T>C (p.Ile544Thr)
c.*755T>C (n.*755T>C)
c.*1290T>C (n.*1290T>C)
c.1843T>C (n.1843T>C)
c.1463T>C (p.Ile488Thr)
c.1511T>C (p.Ile504Thr)
c.1607T>C (p.Ile536Thr)
c.1553T>C (p.Ile518Thr)
c.1514T>C (p.Ile505Thr)
gnomAD v4
18g.33739035T>GCA402176007ASXL3c.1634T>G (p.Ile545Ser)
c.1631T>G (p.Ile544Ser)
c.*755T>G (n.*755T>G)
c.*1290T>G (n.*1290T>G)
c.1843T>G (n.1843T>G)
c.1463T>G (p.Ile488Ser)
c.1511T>G (p.Ile504Ser)
c.1607T>G (p.Ile536Ser)
c.1553T>G (p.Ile518Ser)
c.1514T>G (p.Ile505Ser)
18g.33739036delCA658791349ASXL3c.1635del (p.Pro546LeufsTer6)
c.1632del (p.Pro545LeufsTer6)
c.*756del (n.*756del)
c.*1291del (n.*1291del)
c.1844del (n.1844del)
c.1464del (p.Pro489LeufsTer6)
c.1512del (p.Pro505LeufsTer6)
c.1608del (p.Pro537LeufsTer6)
c.1554del (p.Pro519LeufsTer6)
c.1515del (p.Pro506LeufsTer6)
18g.33739036T>ACA503768760ASXL3c.1635T>A (p.Ile545=)
c.1632T>A (p.Ile544=)
c.*756T>A (n.*756T>A)
c.*1291T>A (n.*1291T>A)
c.1844T>A (n.1844T>A)
c.1464T>A (p.Ile488=)
c.1512T>A (p.Ile504=)
c.1608T>A (p.Ile536=)
c.1554T>A (p.Ile518=)
c.1515T>A (p.Ile505=)
18g.33739036T>CCA503768757ASXL3c.1635T>C (p.Ile545=)
c.1632T>C (p.Ile544=)
c.*756T>C (n.*756T>C)
c.*1291T>C (n.*1291T>C)
c.1844T>C (n.1844T>C)
c.1464T>C (p.Ile488=)
c.1512T>C (p.Ile504=)
c.1608T>C (p.Ile536=)
c.1554T>C (p.Ile518=)
c.1515T>C (p.Ile505=)
dbSNP gnomAD v2 gnomAD v4
18g.33739036T>GCA402176008ASXL3c.1635T>G (p.Ile545Met)
c.1632T>G (p.Ile544Met)
c.*756T>G (n.*756T>G)
c.*1291T>G (n.*1291T>G)
c.1844T>G (n.1844T>G)
c.1464T>G (p.Ile488Met)
c.1512T>G (p.Ile504Met)
c.1608T>G (p.Ile536Met)
c.1554T>G (p.Ile518Met)
c.1515T>G (p.Ile505Met)
18g.33739036T=CA2294855791ASXL3c.1635T= (p.Ile545=)
c.1632T= (p.Ile544=)
c.*756T= (n.*756T=)
c.*1291T= (n.*1291T=)
c.1844T= (n.1844T=)
c.1464T= (p.Ile488=)
c.1512T= (p.Ile504=)
c.1608T= (p.Ile536=)
c.1554T= (p.Ile518=)
c.1515T= (p.Ile505=)
18g.33739037C>ACA402176010ASXL3c.1636C>A (p.Pro546Thr)
c.1633C>A (p.Pro545Thr)
c.*757C>A (n.*757C>A)
c.*1292C>A (n.*1292C>A)
c.1845C>A (n.1845C>A)
c.1465C>A (p.Pro489Thr)
c.1513C>A (p.Pro505Thr)
c.1609C>A (p.Pro537Thr)
c.1555C>A (p.Pro519Thr)
c.1516C>A (p.Pro506Thr)
18g.33739037C=CA2294855792ASXL3c.1636C= (p.Pro546=)
c.1633C= (p.Pro545=)
c.*757C= (n.*757C=)
c.*1292C= (n.*1292C=)
c.1845C= (n.1845C=)
c.1465C= (p.Pro489=)
c.1513C= (p.Pro505=)
c.1609C= (p.Pro537=)
c.1555C= (p.Pro519=)
c.1516C= (p.Pro506=)
18g.33739037C>GCA402176009ASXL3c.1636C>G (p.Pro546Ala)
c.1633C>G (p.Pro545Ala)
c.*757C>G (n.*757C>G)
c.*1292C>G (n.*1292C>G)
c.1845C>G (n.1845C>G)
c.1465C>G (p.Pro489Ala)
c.1513C>G (p.Pro505Ala)
c.1609C>G (p.Pro537Ala)
c.1555C>G (p.Pro519Ala)
c.1516C>G (p.Pro506Ala)
18g.33739037C>TCA297786859ASXL3c.1636C>T (p.Pro546Ser)
c.1633C>T (p.Pro545Ser)
c.*757C>T (n.*757C>T)
c.*1292C>T (n.*1292C>T)
c.1845C>T (n.1845C>T)
c.1465C>T (p.Pro489Ser)
c.1513C>T (p.Pro505Ser)
c.1609C>T (p.Pro537Ser)
c.1555C>T (p.Pro519Ser)
c.1516C>T (p.Pro506Ser)
dbSNP
18g.33739038C>ACA402176011ASXL3c.1637C>A (p.Pro546His)
c.1634C>A (p.Pro545His)
c.*758C>A (n.*758C>A)
c.*1293C>A (n.*1293C>A)
c.1846C>A (n.1846C>A)
c.1466C>A (p.Pro489His)
c.1514C>A (p.Pro505His)
c.1610C>A (p.Pro537His)
c.1556C>A (p.Pro519His)
c.1517C>A (p.Pro506His)
18g.33739038C=CA2294855793ASXL3c.1637C= (p.Pro546=)
c.1634C= (p.Pro545=)
c.*758C= (n.*758C=)
c.*1293C= (n.*1293C=)
c.1846C= (n.1846C=)
c.1466C= (p.Pro489=)
c.1514C= (p.Pro505=)
c.1610C= (p.Pro537=)
c.1556C= (p.Pro519=)
c.1517C= (p.Pro506=)
18g.33739038C>GCA402176012ASXL3c.1637C>G (p.Pro546Arg)
c.1634C>G (p.Pro545Arg)
c.*758C>G (n.*758C>G)
c.*1293C>G (n.*1293C>G)
c.1846C>G (n.1846C>G)
c.1466C>G (p.Pro489Arg)
c.1514C>G (p.Pro505Arg)
c.1610C>G (p.Pro537Arg)
c.1556C>G (p.Pro519Arg)
c.1517C>G (p.Pro506Arg)
18g.33739038C>TCA402176013ASXL3c.1637C>T (p.Pro546Leu)
c.1634C>T (p.Pro545Leu)
c.*758C>T (n.*758C>T)
c.*1293C>T (n.*1293C>T)
c.1846C>T (n.1846C>T)
c.1466C>T (p.Pro489Leu)
c.1514C>T (p.Pro505Leu)
c.1610C>T (p.Pro537Leu)
c.1556C>T (p.Pro519Leu)
c.1517C>T (p.Pro506Leu)
dbSNP gnomAD v4
18g.33739042_33739047delCA2576484112ASXL3c.1641_1646del (p.Thr548_Ser549del)
c.1638_1643del (p.Thr547_Ser548del)
c.*762_*767del (n.*762_*767del)
c.*1297_*1302del (n.*1297_*1302del)
c.1850_1855del (n.1850_1855del)
c.1470_1475del (p.Thr491_Ser492del)
c.1518_1523del (p.Thr507_Ser508del)
c.1614_1619del (p.Thr539_Ser540del)
c.1560_1565del (p.Thr521_Ser522del)
c.1521_1526del (p.Thr508_Ser509del)
gnomAD v4
18g.33739039T>ACA503768762ASXL3c.1638T>A (p.Pro546=)
c.1635T>A (p.Pro545=)
c.*759T>A (n.*759T>A)
c.*1294T>A (n.*1294T>A)
c.1847T>A (n.1847T>A)
c.1467T>A (p.Pro489=)
c.1515T>A (p.Pro505=)
c.1611T>A (p.Pro537=)
c.1557T>A (p.Pro519=)
c.1518T>A (p.Pro506=)
18g.33739039T>CCA503768764ASXL3c.1638T>C (p.Pro546=)
c.1635T>C (p.Pro545=)
c.*759T>C (n.*759T>C)
c.*1294T>C (n.*1294T>C)
c.1847T>C (n.1847T>C)
c.1467T>C (p.Pro489=)
c.1515T>C (p.Pro505=)
c.1611T>C (p.Pro537=)
c.1557T>C (p.Pro519=)
c.1518T>C (p.Pro506=)
gnomAD v4
18g.33739039T>GCA503768767ASXL3c.1638T>G (p.Pro546=)
c.1635T>G (p.Pro545=)
c.*759T>G (n.*759T>G)
c.*1294T>G (n.*1294T>G)
c.1847T>G (n.1847T>G)
c.1467T>G (p.Pro489=)
c.1515T>G (p.Pro505=)
c.1611T>G (p.Pro537=)
c.1557T>G (p.Pro519=)
c.1518T>G (p.Pro506=)
18g.33739040T>ACA402176014ASXL3c.1639T>A (p.Ser547Thr)
c.1636T>A (p.Ser546Thr)
c.*760T>A (n.*760T>A)
c.*1295T>A (n.*1295T>A)
c.1848T>A (n.1848T>A)
c.1468T>A (p.Ser490Thr)
c.1516T>A (p.Ser506Thr)
c.1612T>A (p.Ser538Thr)
c.1558T>A (p.Ser520Thr)
c.1519T>A (p.Ser507Thr)
18g.33739040T>CCA402176015ASXL3c.1639T>C (p.Ser547Pro)
c.1636T>C (p.Ser546Pro)
c.*760T>C (n.*760T>C)
c.*1295T>C (n.*1295T>C)
c.1848T>C (n.1848T>C)
c.1468T>C (p.Ser490Pro)
c.1516T>C (p.Ser506Pro)
c.1612T>C (p.Ser538Pro)
c.1558T>C (p.Ser520Pro)
c.1519T>C (p.Ser507Pro)
18g.33739040T>GCA402176016ASXL3c.1639T>G (p.Ser547Ala)
c.1636T>G (p.Ser546Ala)
c.*760T>G (n.*760T>G)
c.*1295T>G (n.*1295T>G)
c.1848T>G (n.1848T>G)
c.1468T>G (p.Ser490Ala)
c.1516T>G (p.Ser506Ala)
c.1612T>G (p.Ser538Ala)
c.1558T>G (p.Ser520Ala)
c.1519T>G (p.Ser507Ala)
18g.33739041C>ACA402176017ASXL3c.1640C>A (p.Ser547Tyr)
c.1637C>A (p.Ser546Tyr)
c.*761C>A (n.*761C>A)
c.*1296C>A (n.*1296C>A)
c.1849C>A (n.1849C>A)
c.1469C>A (p.Ser490Tyr)
c.1517C>A (p.Ser506Tyr)
c.1613C>A (p.Ser538Tyr)
c.1559C>A (p.Ser520Tyr)
c.1520C>A (p.Ser507Tyr)
18g.33739041C>GCA402176018ASXL3c.1640C>G (p.Ser547Cys)
c.1637C>G (p.Ser546Cys)
c.*761C>G (n.*761C>G)
c.*1296C>G (n.*1296C>G)
c.1849C>G (n.1849C>G)
c.1469C>G (p.Ser490Cys)
c.1517C>G (p.Ser506Cys)
c.1613C>G (p.Ser538Cys)
c.1559C>G (p.Ser520Cys)
c.1520C>G (p.Ser507Cys)
gnomAD v4
18g.33739041C>TCA402176019ASXL3c.1640C>T (p.Ser547Phe)
c.1637C>T (p.Ser546Phe)
c.*761C>T (n.*761C>T)
c.*1296C>T (n.*1296C>T)
c.1849C>T (n.1849C>T)
c.1469C>T (p.Ser490Phe)
c.1517C>T (p.Ser506Phe)
c.1613C>T (p.Ser538Phe)
c.1559C>T (p.Ser520Phe)
c.1520C>T (p.Ser507Phe)
gnomAD v4
18g.33739042C>ACA503768768ASXL3c.1641C>A (p.Ser547=)
c.1638C>A (p.Ser546=)
c.*762C>A (n.*762C>A)
c.*1297C>A (n.*1297C>A)
c.1850C>A (n.1850C>A)
c.1470C>A (p.Ser490=)
c.1518C>A (p.Ser506=)
c.1614C>A (p.Ser538=)
c.1560C>A (p.Ser520=)
c.1521C>A (p.Ser507=)
18g.33739042C=CA2294855794ASXL3c.1641C= (p.Ser547=)
c.1638C= (p.Ser546=)
c.*762C= (n.*762C=)
c.*1297C= (n.*1297C=)
c.1850C= (n.1850C=)
c.1470C= (p.Ser490=)
c.1518C= (p.Ser506=)
c.1614C= (p.Ser538=)
c.1560C= (p.Ser520=)
c.1521C= (p.Ser507=)
18g.33739042C>GCA503768771ASXL3c.1641C>G (p.Ser547=)
c.1638C>G (p.Ser546=)
c.*762C>G (n.*762C>G)
c.*1297C>G (n.*1297C>G)
c.1850C>G (n.1850C>G)
c.1470C>G (p.Ser490=)
c.1518C>G (p.Ser506=)
c.1614C>G (p.Ser538=)
c.1560C>G (p.Ser520=)
c.1521C>G (p.Ser507=)
dbSNP
18g.33739042C>TCA8933784ASXL3c.1641C>T (p.Ser547=)
c.1638C>T (p.Ser546=)
c.*762C>T (n.*762C>T)
c.*1297C>T (n.*1297C>T)
c.1850C>T (n.1850C>T)
c.1470C>T (p.Ser490=)
c.1518C>T (p.Ser506=)
c.1614C>T (p.Ser538=)
c.1560C>T (p.Ser520=)
c.1521C>T (p.Ser507=)
dbSNP ExAC gnomAD v2
18g.33739043A>CCA402176022ASXL3c.1642A>C (p.Thr548Pro)
c.1639A>C (p.Thr547Pro)
c.*763A>C (n.*763A>C)
c.*1298A>C (n.*1298A>C)
c.1851A>C (n.1851A>C)
c.1471A>C (p.Thr491Pro)
c.1519A>C (p.Thr507Pro)
c.1615A>C (p.Thr539Pro)
c.1561A>C (p.Thr521Pro)
c.1522A>C (p.Thr508Pro)
18g.33739043A>GCA402176020ASXL3c.1642A>G (p.Thr548Ala)
c.1639A>G (p.Thr547Ala)
c.*763A>G (n.*763A>G)
c.*1298A>G (n.*1298A>G)
c.1851A>G (n.1851A>G)
c.1471A>G (p.Thr491Ala)
c.1519A>G (p.Thr507Ala)
c.1615A>G (p.Thr539Ala)
c.1561A>G (p.Thr521Ala)
c.1522A>G (p.Thr508Ala)
18g.33739043A>TCA402176021ASXL3c.1642A>T (p.Thr548Ser)
c.1639A>T (p.Thr547Ser)
c.*763A>T (n.*763A>T)
c.*1298A>T (n.*1298A>T)
c.1851A>T (n.1851A>T)
c.1471A>T (p.Thr491Ser)
c.1519A>T (p.Thr507Ser)
c.1615A>T (p.Thr539Ser)
c.1561A>T (p.Thr521Ser)
c.1522A>T (p.Thr508Ser)
gnomAD v4
18g.33739044C>ACA402176023ASXL3c.1643C>A (p.Thr548Asn)
c.1640C>A (p.Thr547Asn)
c.*764C>A (n.*764C>A)
c.*1299C>A (n.*1299C>A)
c.1852C>A (n.1852C>A)
c.1472C>A (p.Thr491Asn)
c.1520C>A (p.Thr507Asn)
c.1616C>A (p.Thr539Asn)
c.1562C>A (p.Thr521Asn)
c.1523C>A (p.Thr508Asn)
18g.33739044C=CA2294855795ASXL3c.1643C= (p.Thr548=)
c.1640C= (p.Thr547=)
c.*764C= (n.*764C=)
c.*1299C= (n.*1299C=)
c.1852C= (n.1852C=)
c.1472C= (p.Thr491=)
c.1520C= (p.Thr507=)
c.1616C= (p.Thr539=)
c.1562C= (p.Thr521=)
c.1523C= (p.Thr508=)
18g.33739044C>GCA402176024ASXL3c.1643C>G (p.Thr548Ser)
c.1640C>G (p.Thr547Ser)
c.*764C>G (n.*764C>G)
c.*1299C>G (n.*1299C>G)
c.1852C>G (n.1852C>G)
c.1472C>G (p.Thr491Ser)
c.1520C>G (p.Thr507Ser)
c.1616C>G (p.Thr539Ser)
c.1562C>G (p.Thr521Ser)
c.1523C>G (p.Thr508Ser)
18g.33739044C>TCA402176025ASXL3c.1643C>T (p.Thr548Ile)
c.1640C>T (p.Thr547Ile)
c.*764C>T (n.*764C>T)
c.*1299C>T (n.*1299C>T)
c.1852C>T (n.1852C>T)
c.1472C>T (p.Thr491Ile)
c.1520C>T (p.Thr507Ile)
c.1616C>T (p.Thr539Ile)
c.1562C>T (p.Thr521Ile)
c.1523C>T (p.Thr508Ile)
dbSNP gnomAD v2 gnomAD v4
18g.33739045T>ACA503768772ASXL3c.1644T>A (p.Thr548=)
c.1641T>A (p.Thr547=)
c.*765T>A (n.*765T>A)
c.*1300T>A (n.*1300T>A)
c.1853T>A (n.1853T>A)
c.1473T>A (p.Thr491=)
c.1521T>A (p.Thr507=)
c.1617T>A (p.Thr539=)
c.1563T>A (p.Thr521=)
c.1524T>A (p.Thr508=)
18g.33739045T>CCA503768773ASXL3c.1644T>C (p.Thr548=)
c.1641T>C (p.Thr547=)
c.*765T>C (n.*765T>C)
c.*1300T>C (n.*1300T>C)
c.1853T>C (n.1853T>C)
c.1473T>C (p.Thr491=)
c.1521T>C (p.Thr507=)
c.1617T>C (p.Thr539=)
c.1563T>C (p.Thr521=)
c.1524T>C (p.Thr508=)
18g.33739045T>GCA297786867ASXL3c.1644T>G (p.Thr548=)
c.1641T>G (p.Thr547=)
c.*765T>G (n.*765T>G)
c.*1300T>G (n.*1300T>G)
c.1853T>G (n.1853T>G)
c.1473T>G (p.Thr491=)
c.1521T>G (p.Thr507=)
c.1617T>G (p.Thr539=)
c.1563T>G (p.Thr521=)
c.1524T>G (p.Thr508=)
dbSNP gnomAD v4
18g.33739045T=CA2294855796ASXL3c.1644T= (p.Thr548=)
c.1641T= (p.Thr547=)
c.*765T= (n.*765T=)
c.*1300T= (n.*1300T=)
c.1853T= (n.1853T=)
c.1473T= (p.Thr491=)
c.1521T= (p.Thr507=)
c.1617T= (p.Thr539=)
c.1563T= (p.Thr521=)
c.1524T= (p.Thr508=)
18g.33739046T>ACA402176026ASXL3c.1645T>A (p.Ser549Thr)
c.1642T>A (p.Ser548Thr)
c.*766T>A (n.*766T>A)
c.*1301T>A (n.*1301T>A)
c.1854T>A (n.1854T>A)
c.1474T>A (p.Ser492Thr)
c.1522T>A (p.Ser508Thr)
c.1618T>A (p.Ser540Thr)
c.1564T>A (p.Ser522Thr)
c.1525T>A (p.Ser509Thr)
18g.33739046T>CCA402176027ASXL3c.1645T>C (p.Ser549Pro)
c.1642T>C (p.Ser548Pro)
c.*766T>C (n.*766T>C)
c.*1301T>C (n.*1301T>C)
c.1854T>C (n.1854T>C)
c.1474T>C (p.Ser492Pro)
c.1522T>C (p.Ser508Pro)
c.1618T>C (p.Ser540Pro)
c.1564T>C (p.Ser522Pro)
c.1525T>C (p.Ser509Pro)
18g.33739046T>GCA402176028ASXL3c.1645T>G (p.Ser549Ala)
c.1642T>G (p.Ser548Ala)
c.*766T>G (n.*766T>G)
c.*1301T>G (n.*1301T>G)
c.1854T>G (n.1854T>G)
c.1474T>G (p.Ser492Ala)
c.1522T>G (p.Ser508Ala)
c.1618T>G (p.Ser540Ala)
c.1564T>G (p.Ser522Ala)
c.1525T>G (p.Ser509Ala)
18g.33739048_33739050dupCA8933785ASXL3c.1647_1649dup (p.Ser550_Met551insSer)
c.1644_1646dup (p.Ser549_Met550insSer)
c.*768_*770dup (n.*768_*770dup)
c.*1303_*1305dup (n.*1303_*1305dup)
c.1856_1858dup (n.1856_1858dup)
c.1476_1478dup (p.Ser493_Met494insSer)
c.1524_1526dup (p.Ser509_Met510insSer)
c.1620_1622dup (p.Ser541_Met542insSer)
c.1566_1568dup (p.Ser523_Met524insSer)
c.1527_1529dup (p.Ser510_Met511insSer)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739047C>ACA402176029ASXL3c.1646C>A (p.Ser549Ter)
c.1643C>A (p.Ser548Ter)
c.*767C>A (n.*767C>A)
c.*1302C>A (n.*1302C>A)
c.1855C>A (n.1855C>A)
c.1475C>A (p.Ser492Ter)
c.1523C>A (p.Ser508Ter)
c.1619C>A (p.Ser540Ter)
c.1565C>A (p.Ser522Ter)
c.1526C>A (p.Ser509Ter)
18g.33739047C=CA2294855797ASXL3c.1646C= (p.Ser549=)
c.1643C= (p.Ser548=)
c.*767C= (n.*767C=)
c.*1302C= (n.*1302C=)
c.1855C= (n.1855C=)
c.1475C= (p.Ser492=)
c.1523C= (p.Ser508=)
c.1619C= (p.Ser540=)
c.1565C= (p.Ser522=)
c.1526C= (p.Ser509=)
18g.33739047C>GCA402176030ASXL3c.1646C>G (p.Ser549Ter)
c.1643C>G (p.Ser548Ter)
c.*767C>G (n.*767C>G)
c.*1302C>G (n.*1302C>G)
c.1855C>G (n.1855C>G)
c.1475C>G (p.Ser492Ter)
c.1523C>G (p.Ser508Ter)
c.1619C>G (p.Ser540Ter)
c.1565C>G (p.Ser522Ter)
c.1526C>G (p.Ser509Ter)
18g.33739047C>TCA8933786ASXL3c.1646C>T (p.Ser549Leu)
c.1643C>T (p.Ser548Leu)
c.*767C>T (n.*767C>T)
c.*1302C>T (n.*1302C>T)
c.1855C>T (n.1855C>T)
c.1475C>T (p.Ser492Leu)
c.1523C>T (p.Ser508Leu)
c.1619C>T (p.Ser540Leu)
c.1565C>T (p.Ser522Leu)
c.1526C>T (p.Ser509Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739048A>CCA503768778ASXL3c.1647A>C (p.Ser549=)
c.1644A>C (p.Ser548=)
c.*768A>C (n.*768A>C)
c.*1303A>C (n.*1303A>C)
c.1856A>C (n.1856A>C)
c.1476A>C (p.Ser492=)
c.1524A>C (p.Ser508=)
c.1620A>C (p.Ser540=)
c.1566A>C (p.Ser522=)
c.1527A>C (p.Ser509=)
18g.33739048A>GCA503768780ASXL3c.1647A>G (p.Ser549=)
c.1644A>G (p.Ser548=)
c.*768A>G (n.*768A>G)
c.*1303A>G (n.*1303A>G)
c.1856A>G (n.1856A>G)
c.1476A>G (p.Ser492=)
c.1524A>G (p.Ser508=)
c.1620A>G (p.Ser540=)
c.1566A>G (p.Ser522=)
c.1527A>G (p.Ser509=)
18g.33739048A>TCA503768782ASXL3c.1647A>T (p.Ser549=)
c.1644A>T (p.Ser548=)
c.*768A>T (n.*768A>T)
c.*1303A>T (n.*1303A>T)
c.1856A>T (n.1856A>T)
c.1476A>T (p.Ser492=)
c.1524A>T (p.Ser508=)
c.1620A>T (p.Ser540=)
c.1566A>T (p.Ser522=)
c.1527A>T (p.Ser509=)
18g.33739049T>ACA402176033ASXL3c.1648T>A (p.Ser550Thr)
c.1645T>A (p.Ser549Thr)
c.*769T>A (n.*769T>A)
c.*1304T>A (n.*1304T>A)
c.1857T>A (n.1857T>A)
c.1477T>A (p.Ser493Thr)
c.1525T>A (p.Ser509Thr)
c.1621T>A (p.Ser541Thr)
c.1567T>A (p.Ser523Thr)
c.1528T>A (p.Ser510Thr)
18g.33739049T>CCA402176032ASXL3c.1648T>C (p.Ser550Pro)
c.1645T>C (p.Ser549Pro)
c.*769T>C (n.*769T>C)
c.*1304T>C (n.*1304T>C)
c.1857T>C (n.1857T>C)
c.1477T>C (p.Ser493Pro)
c.1525T>C (p.Ser509Pro)
c.1621T>C (p.Ser541Pro)
c.1567T>C (p.Ser523Pro)
c.1528T>C (p.Ser510Pro)
18g.33739049T>GCA402176031ASXL3c.1648T>G (p.Ser550Ala)
c.1645T>G (p.Ser549Ala)
c.*769T>G (n.*769T>G)
c.*1304T>G (n.*1304T>G)
c.1857T>G (n.1857T>G)
c.1477T>G (p.Ser493Ala)
c.1525T>G (p.Ser509Ala)
c.1621T>G (p.Ser541Ala)
c.1567T>G (p.Ser523Ala)
c.1528T>G (p.Ser510Ala)
18g.33739050C>ACA402176034ASXL3c.1649C>A (p.Ser550Tyr)
c.1646C>A (p.Ser549Tyr)
c.*770C>A (n.*770C>A)
c.*1305C>A (n.*1305C>A)
c.1858C>A (n.1858C>A)
c.1478C>A (p.Ser493Tyr)
c.1526C>A (p.Ser509Tyr)
c.1622C>A (p.Ser541Tyr)
c.1568C>A (p.Ser523Tyr)
c.1529C>A (p.Ser510Tyr)
COSMIC COSMIC
18g.33739050C=CA2294855798ASXL3c.1649C= (p.Ser550=)
c.1646C= (p.Ser549=)
c.*770C= (n.*770C=)
c.*1305C= (n.*1305C=)
c.1858C= (n.1858C=)
c.1478C= (p.Ser493=)
c.1526C= (p.Ser509=)
c.1622C= (p.Ser541=)
c.1568C= (p.Ser523=)
c.1529C= (p.Ser510=)
18g.33739050C>GCA402176035ASXL3c.1649C>G (p.Ser550Cys)
c.1646C>G (p.Ser549Cys)
c.*770C>G (n.*770C>G)
c.*1305C>G (n.*1305C>G)
c.1858C>G (n.1858C>G)
c.1478C>G (p.Ser493Cys)
c.1526C>G (p.Ser509Cys)
c.1622C>G (p.Ser541Cys)
c.1568C>G (p.Ser523Cys)
c.1529C>G (p.Ser510Cys)
18g.33739050C>TCA8933787ASXL3c.1649C>T (p.Ser550Phe)
c.1646C>T (p.Ser549Phe)
c.*770C>T (n.*770C>T)
c.*1305C>T (n.*1305C>T)
c.1858C>T (n.1858C>T)
c.1478C>T (p.Ser493Phe)
c.1526C>T (p.Ser509Phe)
c.1622C>T (p.Ser541Phe)
c.1568C>T (p.Ser523Phe)
c.1529C>T (p.Ser510Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739051T>ACA503768783ASXL3c.1650T>A (p.Ser550=)
c.1647T>A (p.Ser549=)
c.*771T>A (n.*771T>A)
c.*1306T>A (n.*1306T>A)
c.1859T>A (n.1859T>A)
c.1479T>A (p.Ser493=)
c.1527T>A (p.Ser509=)
c.1623T>A (p.Ser541=)
c.1569T>A (p.Ser523=)
c.1530T>A (p.Ser510=)
18g.33739051T>CCA503768785ASXL3c.1650T>C (p.Ser550=)
c.1647T>C (p.Ser549=)
c.*771T>C (n.*771T>C)
c.*1306T>C (n.*1306T>C)
c.1859T>C (n.1859T>C)
c.1479T>C (p.Ser493=)
c.1527T>C (p.Ser509=)
c.1623T>C (p.Ser541=)
c.1569T>C (p.Ser523=)
c.1530T>C (p.Ser510=)
18g.33739051T>GCA503768786ASXL3c.1650T>G (p.Ser550=)
c.1647T>G (p.Ser549=)
c.*771T>G (n.*771T>G)
c.*1306T>G (n.*1306T>G)
c.1859T>G (n.1859T>G)
c.1479T>G (p.Ser493=)
c.1527T>G (p.Ser509=)
c.1623T>G (p.Ser541=)
c.1569T>G (p.Ser523=)
c.1530T>G (p.Ser510=)
18g.33739052A=CA2294855799ASXL3c.1651A= (p.Met551=)
c.1648A= (p.Met550=)
c.*772A= (n.*772A=)
c.*1307A= (n.*1307A=)
c.1860A= (n.1860A=)
c.1480A= (p.Met494=)
c.1528A= (p.Met510=)
c.1624A= (p.Met542=)
c.1570A= (p.Met524=)
c.1531A= (p.Met511=)
18g.33739052A>CCA402176036ASXL3c.1651A>C (p.Met551Leu)
c.1648A>C (p.Met550Leu)
c.*772A>C (n.*772A>C)
c.*1307A>C (n.*1307A>C)
c.1860A>C (n.1860A>C)
c.1480A>C (p.Met494Leu)
c.1528A>C (p.Met510Leu)
c.1624A>C (p.Met542Leu)
c.1570A>C (p.Met524Leu)
c.1531A>C (p.Met511Leu)
18g.33739052A>GCA8933788ASXL3c.1651A>G (p.Met551Val)
c.1648A>G (p.Met550Val)
c.*772A>G (n.*772A>G)
c.*1307A>G (n.*1307A>G)
c.1860A>G (n.1860A>G)
c.1480A>G (p.Met494Val)
c.1528A>G (p.Met510Val)
c.1624A>G (p.Met542Val)
c.1570A>G (p.Met524Val)
c.1531A>G (p.Met511Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739052A>TCA402176037ASXL3c.1651A>T (p.Met551Leu)
c.1648A>T (p.Met550Leu)
c.*772A>T (n.*772A>T)
c.*1307A>T (n.*1307A>T)
c.1860A>T (n.1860A>T)
c.1480A>T (p.Met494Leu)
c.1528A>T (p.Met510Leu)
c.1624A>T (p.Met542Leu)
c.1570A>T (p.Met524Leu)
c.1531A>T (p.Met511Leu)
18g.33739053T>ACA402176039ASXL3c.1652T>A (p.Met551Lys)
c.1649T>A (p.Met550Lys)
c.*773T>A (n.*773T>A)
c.*1308T>A (n.*1308T>A)
c.1861T>A (n.1861T>A)
c.1481T>A (p.Met494Lys)
c.1529T>A (p.Met510Lys)
c.1625T>A (p.Met542Lys)
c.1571T>A (p.Met524Lys)
c.1532T>A (p.Met511Lys)
18g.33739053T>CCA8933789ASXL3c.1652T>C (p.Met551Thr)
c.1649T>C (p.Met550Thr)
c.*773T>C (n.*773T>C)
c.*1308T>C (n.*1308T>C)
c.1861T>C (n.1861T>C)
c.1481T>C (p.Met494Thr)
c.1529T>C (p.Met510Thr)
c.1625T>C (p.Met542Thr)
c.1571T>C (p.Met524Thr)
c.1532T>C (p.Met511Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739053T>GCA402176038ASXL3c.1652T>G (p.Met551Arg)
c.1649T>G (p.Met550Arg)
c.*773T>G (n.*773T>G)
c.*1308T>G (n.*1308T>G)
c.1861T>G (n.1861T>G)
c.1481T>G (p.Met494Arg)
c.1529T>G (p.Met510Arg)
c.1625T>G (p.Met542Arg)
c.1571T>G (p.Met524Arg)
c.1532T>G (p.Met511Arg)
18g.33739053T=CA2294855800ASXL3c.1652T= (p.Met551=)
c.1649T= (p.Met550=)
c.*773T= (n.*773T=)
c.*1308T= (n.*1308T=)
c.1861T= (n.1861T=)
c.1481T= (p.Met494=)
c.1529T= (p.Met510=)
c.1625T= (p.Met542=)
c.1571T= (p.Met524=)
c.1532T= (p.Met511=)

Number of alleles fetched