Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
18 | g.33738935_33738976dup | CA629454084 | ASXL3 | c.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 |
18 | g.33738936_33738953del | CA2576484111 | ASXL3 | c.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 |
18 | g.33738938_33738939del | CA658799027 | ASXL3 | c.1537_1538del (p.Leu513AlafsTer4) c.1534_1535del (p.Leu512AlafsTer4) c.*658_*659del (n.*658_*659del) c.*1193_*1194del (n.*1193_*1194del) c.1746_1747del (n.1746_1747del) c.1366_1367del (p.Leu456AlafsTer4) c.1414_1415del (p.Leu472AlafsTer4) c.1510_1511del (p.Leu504AlafsTer4) c.1456_1457del (p.Leu486AlafsTer4) c.1417_1418del (p.Leu473AlafsTer4) | ClinVar dbSNP |
18 | g.33738939T>A | CA402175788 | ASXL3 | c.1538T>A (p.Leu513Ter) c.1535T>A (p.Leu512Ter) c.*659T>A (n.*659T>A) c.*1194T>A (n.*1194T>A) c.1747T>A (n.1747T>A) c.1367T>A (p.Leu456Ter) c.1415T>A (p.Leu472Ter) c.1511T>A (p.Leu504Ter) c.1457T>A (p.Leu486Ter) c.1418T>A (p.Leu473Ter) | ClinVar dbSNP |
18 | g.33738939T>C | CA402175789 | ASXL3 | c.1538T>C (p.Leu513Ser) c.1535T>C (p.Leu512Ser) c.*659T>C (n.*659T>C) c.*1194T>C (n.*1194T>C) c.1747T>C (n.1747T>C) c.1367T>C (p.Leu456Ser) c.1415T>C (p.Leu472Ser) c.1511T>C (p.Leu504Ser) c.1457T>C (p.Leu486Ser) c.1418T>C (p.Leu473Ser) | |
18 | g.33738939T>G | CA402175790 | ASXL3 | c.1538T>G (p.Leu513Trp) c.1535T>G (p.Leu512Trp) c.*659T>G (n.*659T>G) c.*1194T>G (n.*1194T>G) c.1747T>G (n.1747T>G) c.1367T>G (p.Leu456Trp) c.1415T>G (p.Leu472Trp) c.1511T>G (p.Leu504Trp) c.1457T>G (p.Leu486Trp) c.1418T>G (p.Leu473Trp) | |
18 | g.33738939T= | CA2294855752 | ASXL3 | c.1538T= (p.Leu513=) c.1535T= (p.Leu512=) c.*659T= (n.*659T=) c.*1194T= (n.*1194T=) c.1747T= (n.1747T=) c.1367T= (p.Leu456=) c.1415T= (p.Leu472=) c.1511T= (p.Leu504=) c.1457T= (p.Leu486=) c.1418T= (p.Leu473=) | |
18 | g.33738940G>A | CA503768447 | ASXL3 | c.1539G>A (p.Leu513=) c.1536G>A (p.Leu512=) c.*660G>A (n.*660G>A) c.*1195G>A (n.*1195G>A) c.1748G>A (n.1748G>A) c.1368G>A (p.Leu456=) c.1416G>A (p.Leu472=) c.1512G>A (p.Leu504=) c.1458G>A (p.Leu486=) c.1419G>A (p.Leu473=) | |
18 | g.33738940G>C | CA402175791 | ASXL3 | c.1539G>C (p.Leu513Phe) c.1536G>C (p.Leu512Phe) c.*660G>C (n.*660G>C) c.*1195G>C (n.*1195G>C) c.1748G>C (n.1748G>C) c.1368G>C (p.Leu456Phe) c.1416G>C (p.Leu472Phe) c.1512G>C (p.Leu504Phe) c.1458G>C (p.Leu486Phe) c.1419G>C (p.Leu473Phe) | |
18 | g.33738940G>T | CA402175792 | ASXL3 | c.1539G>T (p.Leu513Phe) c.1536G>T (p.Leu512Phe) c.*660G>T (n.*660G>T) c.*1195G>T (n.*1195G>T) c.1748G>T (n.1748G>T) c.1368G>T (p.Leu456Phe) c.1416G>T (p.Leu472Phe) c.1512G>T (p.Leu504Phe) c.1458G>T (p.Leu486Phe) c.1419G>T (p.Leu473Phe) | gnomAD v4 |
18 | g.33738941C>A | CA402175795 | ASXL3 | c.1540C>A (p.Pro514Thr) c.1537C>A (p.Pro513Thr) c.*661C>A (n.*661C>A) c.*1196C>A (n.*1196C>A) c.1749C>A (n.1749C>A) c.1369C>A (p.Pro457Thr) c.1417C>A (p.Pro473Thr) c.1513C>A (p.Pro505Thr) c.1459C>A (p.Pro487Thr) c.1420C>A (p.Pro474Thr) | gnomAD v4 |
18 | g.33738941C= | CA2294855753 | ASXL3 | c.1540C= (p.Pro514=) c.1537C= (p.Pro513=) c.*661C= (n.*661C=) c.*1196C= (n.*1196C=) c.1749C= (n.1749C=) c.1369C= (p.Pro457=) c.1417C= (p.Pro473=) c.1513C= (p.Pro505=) c.1459C= (p.Pro487=) c.1420C= (p.Pro474=) | |
18 | g.33738941C>G | CA402175794 | ASXL3 | c.1540C>G (p.Pro514Ala) c.1537C>G (p.Pro513Ala) c.*661C>G (n.*661C>G) c.*1196C>G (n.*1196C>G) c.1749C>G (n.1749C>G) c.1369C>G (p.Pro457Ala) c.1417C>G (p.Pro473Ala) c.1513C>G (p.Pro505Ala) c.1459C>G (p.Pro487Ala) c.1420C>G (p.Pro474Ala) | dbSNP gnomAD v4 |
18 | g.33738941C>T | CA402175793 | ASXL3 | c.1540C>T (p.Pro514Ser) c.1537C>T (p.Pro513Ser) c.*661C>T (n.*661C>T) c.*1196C>T (n.*1196C>T) c.1749C>T (n.1749C>T) c.1369C>T (p.Pro457Ser) c.1417C>T (p.Pro473Ser) c.1513C>T (p.Pro505Ser) c.1459C>T (p.Pro487Ser) c.1420C>T (p.Pro474Ser) | gnomAD v4 |
18 | g.33738942C>A | CA402175796 | ASXL3 | c.1541C>A (p.Pro514His) c.1538C>A (p.Pro513His) c.*662C>A (n.*662C>A) c.*1197C>A (n.*1197C>A) c.1750C>A (n.1750C>A) c.1370C>A (p.Pro457His) c.1418C>A (p.Pro473His) c.1514C>A (p.Pro505His) c.1460C>A (p.Pro487His) c.1421C>A (p.Pro474His) | |
18 | g.33738942C= | CA2294855754 | ASXL3 | c.1541C= (p.Pro514=) c.1538C= (p.Pro513=) c.*662C= (n.*662C=) c.*1197C= (n.*1197C=) c.1750C= (n.1750C=) c.1370C= (p.Pro457=) c.1418C= (p.Pro473=) c.1514C= (p.Pro505=) c.1460C= (p.Pro487=) c.1421C= (p.Pro474=) | |
18 | g.33738942C>G | CA402175798 | ASXL3 | c.1541C>G (p.Pro514Arg) c.1538C>G (p.Pro513Arg) c.*662C>G (n.*662C>G) c.*1197C>G (n.*1197C>G) c.1750C>G (n.1750C>G) c.1370C>G (p.Pro457Arg) c.1418C>G (p.Pro473Arg) c.1514C>G (p.Pro505Arg) c.1460C>G (p.Pro487Arg) c.1421C>G (p.Pro474Arg) | gnomAD v4 |
18 | g.33738942C>T | CA402175797 | ASXL3 | c.1541C>T (p.Pro514Leu) c.1538C>T (p.Pro513Leu) c.*662C>T (n.*662C>T) c.*1197C>T (n.*1197C>T) c.1750C>T (n.1750C>T) c.1370C>T (p.Pro457Leu) c.1418C>T (p.Pro473Leu) c.1514C>T (p.Pro505Leu) c.1460C>T (p.Pro487Leu) c.1421C>T (p.Pro474Leu) | dbSNP gnomAD v4 |
18 | g.33738943T>A | CA503768449 | ASXL3 | c.1542T>A (p.Pro514=) c.1539T>A (p.Pro513=) c.*663T>A (n.*663T>A) c.*1198T>A (n.*1198T>A) c.1751T>A (n.1751T>A) c.1371T>A (p.Pro457=) c.1419T>A (p.Pro473=) c.1515T>A (p.Pro505=) c.1461T>A (p.Pro487=) c.1422T>A (p.Pro474=) | |
18 | g.33738943T>C | CA503768451 | ASXL3 | c.1542T>C (p.Pro514=) c.1539T>C (p.Pro513=) c.*663T>C (n.*663T>C) c.*1198T>C (n.*1198T>C) c.1751T>C (n.1751T>C) c.1371T>C (p.Pro457=) c.1419T>C (p.Pro473=) c.1515T>C (p.Pro505=) c.1461T>C (p.Pro487=) c.1422T>C (p.Pro474=) | |
18 | g.33738943T>G | CA503768453 | ASXL3 | c.1542T>G (p.Pro514=) c.1539T>G (p.Pro513=) c.*663T>G (n.*663T>G) c.*1198T>G (n.*1198T>G) c.1751T>G (n.1751T>G) c.1371T>G (p.Pro457=) c.1419T>G (p.Pro473=) c.1515T>G (p.Pro505=) c.1461T>G (p.Pro487=) c.1422T>G (p.Pro474=) | |
18 | g.33738944C>A | CA402175799 | ASXL3 | c.1543C>A (p.His515Asn) c.1540C>A (p.His514Asn) c.*664C>A (n.*664C>A) c.*1199C>A (n.*1199C>A) c.1752C>A (n.1752C>A) c.1372C>A (p.His458Asn) c.1420C>A (p.His474Asn) c.1516C>A (p.His506Asn) c.1462C>A (p.His488Asn) c.1423C>A (p.His475Asn) | |
18 | g.33738944C= | CA2294855755 | ASXL3 | c.1543C= (p.His515=) c.1540C= (p.His514=) c.*664C= (n.*664C=) c.*1199C= (n.*1199C=) c.1752C= (n.1752C=) c.1372C= (p.His458=) c.1420C= (p.His474=) c.1516C= (p.His506=) c.1462C= (p.His488=) c.1423C= (p.His475=) | |
18 | g.33738944C>G | CA402175800 | ASXL3 | c.1543C>G (p.His515Asp) c.1540C>G (p.His514Asp) c.*664C>G (n.*664C>G) c.*1199C>G (n.*1199C>G) c.1752C>G (n.1752C>G) c.1372C>G (p.His458Asp) c.1420C>G (p.His474Asp) c.1516C>G (p.His506Asp) c.1462C>G (p.His488Asp) c.1423C>G (p.His475Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738944C>T | CA297786760 | ASXL3 | c.1543C>T (p.His515Tyr) c.1540C>T (p.His514Tyr) c.*664C>T (n.*664C>T) c.*1199C>T (n.*1199C>T) c.1752C>T (n.1752C>T) c.1372C>T (p.His458Tyr) c.1420C>T (p.His474Tyr) c.1516C>T (p.His506Tyr) c.1462C>T (p.His488Tyr) c.1423C>T (p.His475Tyr) | dbSNP gnomAD v4 |
18 | g.33738945A>C | CA402175801 | ASXL3 | c.1544A>C (p.His515Pro) c.1541A>C (p.His514Pro) c.*665A>C (n.*665A>C) c.*1200A>C (n.*1200A>C) c.1753A>C (n.1753A>C) c.1373A>C (p.His458Pro) c.1421A>C (p.His474Pro) c.1517A>C (p.His506Pro) c.1463A>C (p.His488Pro) c.1424A>C (p.His475Pro) | |
18 | g.33738945A>G | CA402175802 | ASXL3 | c.1544A>G (p.His515Arg) c.1541A>G (p.His514Arg) c.*665A>G (n.*665A>G) c.*1200A>G (n.*1200A>G) c.1753A>G (n.1753A>G) c.1373A>G (p.His458Arg) c.1421A>G (p.His474Arg) c.1517A>G (p.His506Arg) c.1463A>G (p.His488Arg) c.1424A>G (p.His475Arg) | |
18 | g.33738945A>T | CA402175803 | ASXL3 | c.1544A>T (p.His515Leu) c.1541A>T (p.His514Leu) c.*665A>T (n.*665A>T) c.*1200A>T (n.*1200A>T) c.1753A>T (n.1753A>T) c.1373A>T (p.His458Leu) c.1421A>T (p.His474Leu) c.1517A>T (p.His506Leu) c.1463A>T (p.His488Leu) c.1424A>T (p.His475Leu) | |
18 | g.33738946T>A | CA402175804 | ASXL3 | c.1545T>A (p.His515Gln) c.1542T>A (p.His514Gln) c.*666T>A (n.*666T>A) c.*1201T>A (n.*1201T>A) c.1754T>A (n.1754T>A) c.1374T>A (p.His458Gln) c.1422T>A (p.His474Gln) c.1518T>A (p.His506Gln) c.1464T>A (p.His488Gln) c.1425T>A (p.His475Gln) | |
18 | g.33738946T>C | CA503768459 | ASXL3 | c.1545T>C (p.His515=) c.1542T>C (p.His514=) c.*666T>C (n.*666T>C) c.*1201T>C (n.*1201T>C) c.1754T>C (n.1754T>C) c.1374T>C (p.His458=) c.1422T>C (p.His474=) c.1518T>C (p.His506=) c.1464T>C (p.His488=) c.1425T>C (p.His475=) | |
18 | g.33738946T>G | CA402175805 | ASXL3 | c.1545T>G (p.His515Gln) c.1542T>G (p.His514Gln) c.*666T>G (n.*666T>G) c.*1201T>G (n.*1201T>G) c.1754T>G (n.1754T>G) c.1374T>G (p.His458Gln) c.1422T>G (p.His474Gln) c.1518T>G (p.His506Gln) c.1464T>G (p.His488Gln) c.1425T>G (p.His475Gln) | |
18 | g.33738947A>C | CA402175806 | ASXL3 | c.1546A>C (p.Ile516Leu) c.1543A>C (p.Ile515Leu) c.*667A>C (n.*667A>C) c.*1202A>C (n.*1202A>C) c.1755A>C (n.1755A>C) c.1375A>C (p.Ile459Leu) c.1423A>C (p.Ile475Leu) c.1519A>C (p.Ile507Leu) c.1465A>C (p.Ile489Leu) c.1426A>C (p.Ile476Leu) | |
18 | g.33738947A>G | CA402175807 | ASXL3 | c.1546A>G (p.Ile516Val) c.1543A>G (p.Ile515Val) c.*667A>G (n.*667A>G) c.*1202A>G (n.*1202A>G) c.1755A>G (n.1755A>G) c.1375A>G (p.Ile459Val) c.1423A>G (p.Ile475Val) c.1519A>G (p.Ile507Val) c.1465A>G (p.Ile489Val) c.1426A>G (p.Ile476Val) | COSMIC COSMIC |
18 | g.33738947A>T | CA402175808 | ASXL3 | c.1546A>T (p.Ile516Phe) c.1543A>T (p.Ile515Phe) c.*667A>T (n.*667A>T) c.*1202A>T (n.*1202A>T) c.1755A>T (n.1755A>T) c.1375A>T (p.Ile459Phe) c.1423A>T (p.Ile475Phe) c.1519A>T (p.Ile507Phe) c.1465A>T (p.Ile489Phe) c.1426A>T (p.Ile476Phe) | |
18 | g.33738948T>A | CA402175811 | ASXL3 | c.1547T>A (p.Ile516Asn) c.1544T>A (p.Ile515Asn) c.*668T>A (n.*668T>A) c.*1203T>A (n.*1203T>A) c.1756T>A (n.1756T>A) c.1376T>A (p.Ile459Asn) c.1424T>A (p.Ile475Asn) c.1520T>A (p.Ile507Asn) c.1466T>A (p.Ile489Asn) c.1427T>A (p.Ile476Asn) | |
18 | g.33738948T>C | CA402175809 | ASXL3 | c.1547T>C (p.Ile516Thr) c.1544T>C (p.Ile515Thr) c.*668T>C (n.*668T>C) c.*1203T>C (n.*1203T>C) c.1756T>C (n.1756T>C) c.1376T>C (p.Ile459Thr) c.1424T>C (p.Ile475Thr) c.1520T>C (p.Ile507Thr) c.1466T>C (p.Ile489Thr) c.1427T>C (p.Ile476Thr) | |
18 | g.33738948T>G | CA402175810 | ASXL3 | c.1547T>G (p.Ile516Ser) c.1544T>G (p.Ile515Ser) c.*668T>G (n.*668T>G) c.*1203T>G (n.*1203T>G) c.1756T>G (n.1756T>G) c.1376T>G (p.Ile459Ser) c.1424T>G (p.Ile475Ser) c.1520T>G (p.Ile507Ser) c.1466T>G (p.Ile489Ser) c.1427T>G (p.Ile476Ser) | |
18 | g.33738948T= | CA2294855756 | ASXL3 | c.1547T= (p.Ile516=) c.1544T= (p.Ile515=) c.*668T= (n.*668T=) c.*1203T= (n.*1203T=) c.1756T= (n.1756T=) c.1376T= (p.Ile459=) c.1424T= (p.Ile475=) c.1520T= (p.Ile507=) c.1466T= (p.Ile489=) c.1427T= (p.Ile476=) | |
18 | g.33738949T>A | CA503768465 | ASXL3 | c.1548T>A (p.Ile516=) c.1545T>A (p.Ile515=) c.*669T>A (n.*669T>A) c.*1204T>A (n.*1204T>A) c.1757T>A (n.1757T>A) c.1377T>A (p.Ile459=) c.1425T>A (p.Ile475=) c.1521T>A (p.Ile507=) c.1467T>A (p.Ile489=) c.1428T>A (p.Ile476=) | |
18 | g.33738949T>C | CA503768466 | ASXL3 | c.1548T>C (p.Ile516=) c.1545T>C (p.Ile515=) c.*669T>C (n.*669T>C) c.*1204T>C (n.*1204T>C) c.1757T>C (n.1757T>C) c.1377T>C (p.Ile459=) c.1425T>C (p.Ile475=) c.1521T>C (p.Ile507=) c.1467T>C (p.Ile489=) c.1428T>C (p.Ile476=) | |
18 | g.33738949T>G | CA402175812 | ASXL3 | c.1548T>G (p.Ile516Met) c.1545T>G (p.Ile515Met) c.*669T>G (n.*669T>G) c.*1204T>G (n.*1204T>G) c.1757T>G (n.1757T>G) c.1377T>G (p.Ile459Met) c.1425T>G (p.Ile475Met) c.1521T>G (p.Ile507Met) c.1467T>G (p.Ile489Met) c.1428T>G (p.Ile476Met) | |
18 | g.33738949_33738957dup | CA8933769 | ASXL3 | c.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 |
18 | g.33738950G>A | CA402175813 | ASXL3 | c.1549G>A (p.Glu517Lys) c.1546G>A (p.Glu516Lys) c.*670G>A (n.*670G>A) c.*1205G>A (n.*1205G>A) c.1758G>A (n.1758G>A) c.1378G>A (p.Glu460Lys) c.1426G>A (p.Glu476Lys) c.1522G>A (p.Glu508Lys) c.1468G>A (p.Glu490Lys) c.1429G>A (p.Glu477Lys) | |
18 | g.33738950G>C | CA402175814 | ASXL3 | c.1549G>C (p.Glu517Gln) c.1546G>C (p.Glu516Gln) c.*670G>C (n.*670G>C) c.*1205G>C (n.*1205G>C) c.1758G>C (n.1758G>C) c.1378G>C (p.Glu460Gln) c.1426G>C (p.Glu476Gln) c.1522G>C (p.Glu508Gln) c.1468G>C (p.Glu490Gln) c.1429G>C (p.Glu477Gln) | |
18 | g.33738950G>T | CA402175815 | ASXL3 | c.1549G>T (p.Glu517Ter) c.1546G>T (p.Glu516Ter) c.*670G>T (n.*670G>T) c.*1205G>T (n.*1205G>T) c.1758G>T (n.1758G>T) c.1378G>T (p.Glu460Ter) c.1426G>T (p.Glu476Ter) c.1522G>T (p.Glu508Ter) c.1468G>T (p.Glu490Ter) c.1429G>T (p.Glu477Ter) | |
18 | g.33738951A>C | CA402175816 | ASXL3 | c.1550A>C (p.Glu517Ala) c.1547A>C (p.Glu516Ala) c.*671A>C (n.*671A>C) c.*1206A>C (n.*1206A>C) c.1759A>C (n.1759A>C) c.1379A>C (p.Glu460Ala) c.1427A>C (p.Glu476Ala) c.1523A>C (p.Glu508Ala) c.1469A>C (p.Glu490Ala) c.1430A>C (p.Glu477Ala) | |
18 | g.33738951A>G | CA402175817 | ASXL3 | c.1550A>G (p.Glu517Gly) c.1547A>G (p.Glu516Gly) c.*671A>G (n.*671A>G) c.*1206A>G (n.*1206A>G) c.1759A>G (n.1759A>G) c.1379A>G (p.Glu460Gly) c.1427A>G (p.Glu476Gly) c.1523A>G (p.Glu508Gly) c.1469A>G (p.Glu490Gly) c.1430A>G (p.Glu477Gly) | |
18 | g.33738951A>T | CA402175818 | ASXL3 | c.1550A>T (p.Glu517Val) c.1547A>T (p.Glu516Val) c.*671A>T (n.*671A>T) c.*1206A>T (n.*1206A>T) c.1759A>T (n.1759A>T) c.1379A>T (p.Glu460Val) c.1427A>T (p.Glu476Val) c.1523A>T (p.Glu508Val) c.1469A>T (p.Glu490Val) c.1430A>T (p.Glu477Val) | |
18 | g.33738952A>C | CA402175819 | ASXL3 | c.1551A>C (p.Glu517Asp) c.1548A>C (p.Glu516Asp) c.*672A>C (n.*672A>C) c.*1207A>C (n.*1207A>C) c.1760A>C (n.1760A>C) c.1380A>C (p.Glu460Asp) c.1428A>C (p.Glu476Asp) c.1524A>C (p.Glu508Asp) c.1470A>C (p.Glu490Asp) c.1431A>C (p.Glu477Asp) | |
18 | g.33738952A>G | CA503768469 | ASXL3 | c.1551A>G (p.Glu517=) c.1548A>G (p.Glu516=) c.*672A>G (n.*672A>G) c.*1207A>G (n.*1207A>G) c.1760A>G (n.1760A>G) c.1380A>G (p.Glu460=) c.1428A>G (p.Glu476=) c.1524A>G (p.Glu508=) c.1470A>G (p.Glu490=) c.1431A>G (p.Glu477=) | |
18 | g.33738952A>T | CA402175820 | ASXL3 | c.1551A>T (p.Glu517Asp) c.1548A>T (p.Glu516Asp) c.*672A>T (n.*672A>T) c.*1207A>T (n.*1207A>T) c.1760A>T (n.1760A>T) c.1380A>T (p.Glu460Asp) c.1428A>T (p.Glu476Asp) c.1524A>T (p.Glu508Asp) c.1470A>T (p.Glu490Asp) c.1431A>T (p.Glu477Asp) | |
18 | g.33738953G>A | CA402175822 | ASXL3 | c.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 |
18 | g.33738953G>C | CA402175823 | ASXL3 | c.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) | |
18 | g.33738953G>T | CA402175821 | ASXL3 | c.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 |
18 | g.33738954T>A | CA402175824 | ASXL3 | c.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) | |
18 | g.33738954T>C | CA402175825 | ASXL3 | c.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) | |
18 | g.33738954T>G | CA402175826 | ASXL3 | c.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) | |
18 | g.33738955T>A | CA503768473 | ASXL3 | c.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=) | |
18 | g.33738955T>C | CA503768474 | ASXL3 | c.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=) | |
18 | g.33738955T>G | CA503768475 | ASXL3 | c.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 |
18 | g.33738956A>C | CA402175827 | ASXL3 | c.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) | |
18 | g.33738956A>G | CA402175828 | ASXL3 | c.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) | |
18 | g.33738956A>T | CA402175829 | ASXL3 | c.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) | |
18 | g.33738956_33738959del | CA2825002679 | ASXL3 | c.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 |
18 | g.33738957A>C | CA402175832 | ASXL3 | c.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) | |
18 | g.33738957A>G | CA402175830 | ASXL3 | c.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) | |
18 | g.33738957A>T | CA402175831 | ASXL3 | c.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) | |
18 | g.33738958G>A | CA503768482 | ASXL3 | c.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=) | |
18 | g.33738958G>C | CA402175833 | ASXL3 | c.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) | |
18 | g.33738958G>T | CA402175834 | ASXL3 | c.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) | |
18 | g.33738959A>C | CA402175835 | ASXL3 | c.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) | |
18 | g.33738959A>G | CA402175836 | ASXL3 | c.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 |
18 | g.33738959A>T | CA402175837 | ASXL3 | c.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) | |
18 | g.33738960T>A | CA402175838 | ASXL3 | c.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) | |
18 | g.33738960T>C | CA8933770 | ASXL3 | c.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 |
18 | g.33738960T>G | CA402175839 | ASXL3 | c.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) | |
18 | g.33738960T= | CA2294855757 | ASXL3 | c.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=) | |
18 | g.33738961A>C | CA503768487 | ASXL3 | c.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=) | |
18 | g.33738961A>G | CA402175840 | ASXL3 | c.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) | |
18 | g.33738961A>T | CA503768488 | ASXL3 | c.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=) | |
18 | g.33738962G>A | CA402175841 | ASXL3 | c.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 |
18 | g.33738962G>C | CA402175842 | ASXL3 | c.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) | |
18 | g.33738962G>T | CA402175843 | ASXL3 | c.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) | |
18 | g.33738963A>C | CA402175844 | ASXL3 | c.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) | |
18 | g.33738963A>G | CA402175845 | ASXL3 | c.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) | |
18 | g.33738963A>T | CA402175846 | ASXL3 | c.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) | |
18 | g.33738964A>C | CA402175847 | ASXL3 | c.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) | |
18 | g.33738964A>G | CA503768492 | ASXL3 | c.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=) | |
18 | g.33738964A>T | CA402175848 | ASXL3 | c.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) | |
18 | g.33738965G>A | CA402175849 | ASXL3 | c.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 |
18 | g.33738965G>C | CA402175850 | ASXL3 | c.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) | |
18 | g.33738965G= | CA2294855758 | ASXL3 | c.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=) | |
18 | g.33738965G>T | CA402175851 | ASXL3 | c.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) | |
18 | g.33738966G>A | CA402175853 | ASXL3 | c.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 |
18 | g.33738966G>C | CA402175854 | ASXL3 | c.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 |
18 | g.33738966G>T | CA402175852 | ASXL3 | c.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) | |
18 | g.33738967G>A | CA297786776 | ASXL3 | c.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 |
18 | g.33738967G>C | CA503768616 | ASXL3 | c.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=) | |
18 | g.33738967G= | CA2294855759 | ASXL3 | c.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=) | |
18 | g.33738967G>T | CA503768615 | ASXL3 | c.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=) | |
18 | g.33738968A>C | CA402175855 | ASXL3 | c.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) | |
18 | g.33738968A>G | CA402175856 | ASXL3 | c.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) | |
18 | g.33738968A>T | CA402175857 | ASXL3 | c.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) | |
18 | g.33738969A>C | CA402175858 | ASXL3 | c.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 |
18 | g.33738969A>G | CA402175859 | ASXL3 | c.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 |
18 | g.33738969A>T | CA402175860 | ASXL3 | c.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) | |
18 | g.33738970G>A | CA503768618 | ASXL3 | c.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 |
18 | g.33738970G>C | CA402175862 | ASXL3 | c.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) | |
18 | g.33738970G= | CA2294855760 | ASXL3 | c.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=) | |
18 | g.33738970G>T | CA402175861 | ASXL3 | c.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 |
18 | g.33738971T>A | CA402175863 | ASXL3 | c.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) | |
18 | g.33738971T>C | CA402175864 | ASXL3 | c.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) | |
18 | g.33738971T>G | CA402175865 | ASXL3 | c.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) | |
18 | g.33738972C>A | CA402175866 | ASXL3 | c.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) | |
18 | g.33738972C= | CA2294855761 | ASXL3 | c.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=) | |
18 | g.33738972C>G | CA402175867 | ASXL3 | c.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) | |
18 | g.33738972C>T | CA402175868 | ASXL3 | c.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 |
18 | g.33738973A>C | CA503768619 | ASXL3 | c.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=) | |
18 | g.33738973A>G | CA503768620 | ASXL3 | c.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 |
18 | g.33738973A>T | CA503768621 | ASXL3 | c.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=) | |
18 | g.33738974G>A | CA402175870 | ASXL3 | c.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 |
18 | g.33738974G>C | CA8933771 | ASXL3 | c.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 |
18 | g.33738974G= | CA2294855762 | ASXL3 | c.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=) | |
18 | g.33738974G>T | CA402175869 | ASXL3 | c.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) | |
18 | g.33738975A>C | CA402175871 | ASXL3 | c.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 |
18 | g.33738975A>G | CA402175872 | ASXL3 | c.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) | |
18 | g.33738975A>T | CA402175873 | ASXL3 | c.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) | |
18 | g.33738976A>C | CA402175874 | ASXL3 | c.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) | |
18 | g.33738976A>G | CA503768624 | ASXL3 | c.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=) | |
18 | g.33738976A>T | CA402175875 | ASXL3 | c.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) | |
18 | g.33738977T>A | CA402175878 | ASXL3 | c.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 |
18 | g.33738977T>C | CA402175877 | ASXL3 | c.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) | |
18 | g.33738977T>G | CA402175876 | ASXL3 | c.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) | |
18 | g.33738977T= | CA2294855763 | ASXL3 | c.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=) | |
18 | g.33738978C>A | CA402175879 | ASXL3 | c.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) | |
18 | g.33738978C>G | CA402175880 | ASXL3 | c.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) | |
18 | g.33738978C>T | CA402175881 | ASXL3 | c.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 |
18 | g.33738979A>C | CA503768634 | ASXL3 | c.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=) | |
18 | g.33738979A>G | CA503768635 | ASXL3 | c.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=) | |
18 | g.33738979A>T | CA503768636 | ASXL3 | c.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=) | |
18 | g.33738979_33738980delinsAC | CA2294855764 | ASXL3 | c.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=) | |
18 | g.33738980C>A | CA8933772 | ASXL3 | c.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 |
18 | g.33738980C= | CA2294855765 | ASXL3 | c.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=) | |
18 | g.33738980C>G | CA402175882 | ASXL3 | c.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) | |
18 | g.33738980C>T | CA402175883 | ASXL3 | c.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) | |
18 | g.33738983dup | CA1139666020 | ASXL3 | c.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 |
18 | g.33738983del | CA915951349 | ASXL3 | c.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 |
18 | g.33738981C>A | CA402175884 | ASXL3 | c.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) | |
18 | g.33738981C= | CA2294855766 | ASXL3 | c.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=) | |
18 | g.33738981C>G | CA402175885 | ASXL3 | c.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) | |
18 | g.33738981C>T | CA8933773 | ASXL3 | c.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 |
18 | g.33738982C>A | CA503768640 | ASXL3 | c.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=) | |
18 | g.33738982C= | CA2294855767 | ASXL3 | c.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=) | |
18 | g.33738982C>G | CA503768641 | ASXL3 | c.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 |
18 | g.33738982C>T | CA503768643 | ASXL3 | c.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=) | |
18 | g.33738983C>A | CA402175886 | ASXL3 | c.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) | |
18 | g.33738983C>G | CA402175887 | ASXL3 | c.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) | |
18 | g.33738983C>T | CA402175888 | ASXL3 | c.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 |
18 | g.33738984A= | CA2294855768 | ASXL3 | c.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=) | |
18 | g.33738984A>C | CA402175889 | ASXL3 | c.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) | |
18 | g.33738984A>G | CA402175890 | ASXL3 | c.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 |
18 | g.33738984A>T | CA402175891 | ASXL3 | c.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 |
18 | g.33738984_33738985delinsAG | CA2294855769 | ASXL3 | c.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=) | |
18 | g.33738985G>A | CA8933774 | ASXL3 | c.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 |
18 | g.33738985G>C | CA402175892 | ASXL3 | c.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) | |
18 | g.33738985G= | CA2294855770 | ASXL3 | c.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=) | |
18 | g.33738985G>T | CA402175893 | ASXL3 | c.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) | |
18 | g.33738986del | CA1139666021 | ASXL3 | c.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 |
18 | g.33738986G>A | CA402175894 | ASXL3 | c.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) | |
18 | g.33738986G>C | CA402175895 | ASXL3 | c.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) | |
18 | g.33738986G= | CA2294855771 | ASXL3 | c.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=) | |
18 | g.33738986G>T | CA402175896 | ASXL3 | c.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 |
18 | g.33738987A= | CA2294855772 | ASXL3 | c.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=) | |
18 | g.33738987A>C | CA402175898 | ASXL3 | c.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) | |
18 | g.33738987A>G | CA402175899 | ASXL3 | c.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 |
18 | g.33738987A>T | CA402175897 | ASXL3 | c.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) | |
18 | g.33738988A>C | CA402175900 | ASXL3 | c.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) | |
18 | g.33738988A>G | CA503768664 | ASXL3 | c.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 |
18 | g.33738988A>T | CA402175901 | ASXL3 | c.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) | |
18 | g.33738989G>A | CA402175902 | ASXL3 | c.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) | |
18 | g.33738989G>C | CA402175903 | ASXL3 | c.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) | |
18 | g.33738989G= | CA2294855773 | ASXL3 | c.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=) | |
18 | g.33738989G>T | CA402175904 | ASXL3 | c.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 |
18 | g.33738990A>C | CA402175907 | ASXL3 | c.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) | |
18 | g.33738990A>G | CA402175905 | ASXL3 | c.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 |
18 | g.33738990A>T | CA402175906 | ASXL3 | c.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) | |
18 | g.33738991A>C | CA402175908 | ASXL3 | c.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) | |
18 | g.33738991A>G | CA503768669 | ASXL3 | c.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=) | |
18 | g.33738991A>T | CA402175909 | ASXL3 | c.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) | |
18 | g.33738992A>C | CA402175910 | ASXL3 | c.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) | |
18 | g.33738992A>G | CA402175911 | ASXL3 | c.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 |
18 | g.33738992A>T | CA402175912 | ASXL3 | c.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) | |
18 | g.33738993T>A | CA402175913 | ASXL3 | c.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) | |
18 | g.33738993T>C | CA8933775 | ASXL3 | c.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 |
18 | g.33738993T>G | CA402175914 | ASXL3 | c.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) | |
18 | g.33738993T= | CA2294855774 | ASXL3 | c.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=) | |
18 | g.33738994G>A | CA402175915 | ASXL3 | c.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) | |
18 | g.33738994G>C | CA402175917 | ASXL3 | c.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) | |
18 | g.33738994G>T | CA402175916 | ASXL3 | c.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) | |
18 | g.33738995A= | CA2294855775 | ASXL3 | c.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=) | |
18 | g.33738995A>C | CA402175918 | ASXL3 | c.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) | |
18 | g.33738995A>G | CA8933776 | ASXL3 | c.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 |
18 | g.33738995A>T | CA402175919 | ASXL3 | c.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) | |
18 | g.33738996C>A | CA402175920 | ASXL3 | c.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) | |
18 | g.33738996C>G | CA402175921 | ASXL3 | c.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) | |
18 | g.33738996C>T | CA402175922 | ASXL3 | c.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) | |
18 | g.33738997A= | CA2294855776 | ASXL3 | c.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=) | |
18 | g.33738997A>C | CA503768682 | ASXL3 | c.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 |
18 | g.33738997A>G | CA503768683 | ASXL3 | c.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 |
18 | g.33738997A>T | CA503768684 | ASXL3 | c.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=) | |
18 | g.33738997_33739000delinsAGTT | CA2294855777 | ASXL3 | c.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=) | |
18 | g.33738998G>A | CA402175923 | ASXL3 | c.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 |
18 | g.33738998G>C | CA402175924 | ASXL3 | c.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) | |
18 | g.33738998G>T | CA402175925 | ASXL3 | c.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) | |
18 | g.33739001_33739003del | CA503768685 | ASXL3 | c.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 |
18 | g.33738999T>A | CA402175926 | ASXL3 | c.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) | |
18 | g.33738999T>C | CA402175927 | ASXL3 | c.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) | |
18 | g.33738999T>G | CA402175928 | ASXL3 | c.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) | |
18 | g.33739000T>A | CA503768689 | ASXL3 | c.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=) | |
18 | g.33739000T>C | CA503768691 | ASXL3 | c.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 |
18 | g.33739000T>G | CA503768693 | ASXL3 | c.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=) | |
18 | g.33739000T= | CA2294855778 | ASXL3 | c.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=) | |
18 | g.33739001G>A | CA402175931 | ASXL3 | c.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 |
18 | g.33739001G>C | CA402175929 | ASXL3 | c.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) | |
18 | g.33739001G>T | CA402175930 | ASXL3 | c.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 |
18 | g.33739002T>A | CA402175932 | ASXL3 | c.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) | |
18 | g.33739002T>C | CA402175933 | ASXL3 | c.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 |
18 | g.33739002T>G | CA402175934 | ASXL3 | c.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) | |
18 | g.33739002T= | CA2294855779 | ASXL3 | c.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=) | |
18 | g.33739003T>A | CA503768700 | ASXL3 | c.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=) | |
18 | g.33739003T>C | CA503768702 | ASXL3 | c.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=) | |
18 | g.33739003T>G | CA503768704 | ASXL3 | c.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=) | |
18 | g.33739004A>C | CA402175935 | ASXL3 | c.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) | |
18 | g.33739004A>G | CA402175936 | ASXL3 | c.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 |
18 | g.33739004A>T | CA402175937 | ASXL3 | c.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) | |
18 | g.33739005T>A | CA402175938 | ASXL3 | c.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) | |
18 | g.33739005T>C | CA402175939 | ASXL3 | c.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) | |
18 | g.33739005T>G | CA402175940 | ASXL3 | c.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) | |
18 | g.33739006C>A | CA503768710 | ASXL3 | c.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=) | |
18 | g.33739006C= | CA2294855780 | ASXL3 | c.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=) | |
18 | g.33739006C>G | CA402175941 | ASXL3 | c.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 |
18 | g.33739006C>T | CA8933777 | ASXL3 | c.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 |
18 | g.33739007G>A | CA8933779 | ASXL3 | c.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 |
18 | g.33739007G>C | CA402175942 | ASXL3 | c.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 |
18 | g.33739007G= | CA2294855781 | ASXL3 | c.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=) | |
18 | g.33739007G>T | CA8933778 | ASXL3 | c.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 |
18 | g.33739008A>C | CA402175943 | ASXL3 | c.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) | |
18 | g.33739008A>G | CA402175944 | ASXL3 | c.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) | |
18 | g.33739008A>T | CA402175945 | ASXL3 | c.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) | |
18 | g.33739009T>A | CA402175946 | ASXL3 | c.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) | |
18 | g.33739009T>C | CA503768713 | ASXL3 | c.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=) | |
18 | g.33739009T>G | CA402175947 | ASXL3 | c.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) | |
18 | g.33739010C>A | CA402175948 | ASXL3 | c.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) | |
18 | g.33739010C>G | CA402175949 | ASXL3 | c.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) | |
18 | g.33739010C>T | CA402175950 | ASXL3 | c.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) | |
18 | g.33739010_33739011del | CA2740097816 | ASXL3 | c.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 |
18 | g.33739011A>C | CA402175951 | ASXL3 | c.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) | |
18 | g.33739011A>G | CA402175952 | ASXL3 | c.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) | |
18 | g.33739011A>T | CA402175953 | ASXL3 | c.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) | |
18 | g.33739013_33739016dup | CA2740097817 | ASXL3 | c.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 |
18 | g.33739013_33739016del | CA2697555379 | ASXL3 | c.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 |
18 | g.33739012G>A | CA8933780 | ASXL3 | c.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 |
18 | g.33739012G>C | CA402175954 | ASXL3 | c.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) | |
18 | g.33739012G= | CA2294855782 | ASXL3 | c.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=) | |
18 | g.33739012G>T | CA402175955 | ASXL3 | c.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) | |
18 | g.33739013T>A | CA402175956 | ASXL3 | c.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) | |
18 | g.33739013T>C | CA503768722 | ASXL3 | c.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=) | |
18 | g.33739013T>G | CA402175957 | ASXL3 | c.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) | |
18 | g.33739013_33739014insACA | CA2812055521 | ASXL3 | c.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) | |
18 | g.33739014T>A | CA402175958 | ASXL3 | c.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) | |
18 | g.33739014T>C | CA402175959 | ASXL3 | c.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) | |
18 | g.33739014T>G | CA402175960 | ASXL3 | c.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) | |
18 | g.33739015A>C | CA402175961 | ASXL3 | c.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 |
18 | g.33739015A>G | CA503768725 | ASXL3 | c.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=) | |
18 | g.33739015A>T | CA402175962 | ASXL3 | c.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) | |
18 | g.33739016G>A | CA402175963 | ASXL3 | c.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) | |
18 | g.33739016G>C | CA402175964 | ASXL3 | c.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) | |
18 | g.33739016G= | CA2294855783 | ASXL3 | c.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=) | |
18 | g.33739016G>T | CA402175965 | ASXL3 | c.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 |
18 | g.33739017A>C | CA402175966 | ASXL3 | c.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) | |
18 | g.33739017A>G | CA402175967 | ASXL3 | c.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) | |
18 | g.33739017A>T | CA402175968 | ASXL3 | c.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) | |
18 | g.33739018A>C | CA402175969 | ASXL3 | c.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 |
18 | g.33739018A>G | CA503768727 | ASXL3 | c.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=) | |
18 | g.33739018A>T | CA402175970 | ASXL3 | c.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) | |
18 | g.33739019G>A | CA8933781 | ASXL3 | c.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 |
18 | g.33739019G>C | CA402175972 | ASXL3 | c.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) | |
18 | g.33739019G= | CA2294855784 | ASXL3 | c.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=) | |
18 | g.33739019G>T | CA402175971 | ASXL3 | c.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) | |
18 | g.33739020T>A | CA402175973 | ASXL3 | c.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) | |
18 | g.33739020T>C | CA8933782 | ASXL3 | c.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 |
18 | g.33739020T>G | CA402175974 | ASXL3 | c.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 |
18 | g.33739020T= | CA2294855785 | ASXL3 | c.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=) | |
18 | g.33739021C>A | CA503768731 | ASXL3 | c.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=) | |
18 | g.33739021C>G | CA503768732 | ASXL3 | c.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 |
18 | g.33739021C>T | CA503768733 | ASXL3 | c.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=) | |
18 | g.33739022T>A | CA402175975 | ASXL3 | c.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) | |
18 | g.33739022T>C | CA402175977 | ASXL3 | c.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 |
18 | g.33739022T>G | CA402175976 | ASXL3 | c.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 |
18 | g.33739022T= | CA2294855786 | ASXL3 | c.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=) | |
18 | g.33739023G>A | CA402175978 | ASXL3 | c.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) | |
18 | g.33739023G>C | CA402175980 | ASXL3 | c.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) | |
18 | g.33739023G>T | CA402175979 | ASXL3 | c.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) | |
18 | g.33739024T>A | CA402175981 | ASXL3 | c.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) | |
18 | g.33739024T>C | CA503768737 | ASXL3 | c.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=) | |
18 | g.33739024T>G | CA402175982 | ASXL3 | c.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) | |
18 | g.33739025G>A | CA8933783 | ASXL3 | c.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 |
18 | g.33739025G>C | CA402175983 | ASXL3 | c.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) | |
18 | g.33739025G= | CA2294855787 | ASXL3 | c.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=) | |
18 | g.33739025G>T | CA402175984 | ASXL3 | c.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) | |
18 | g.33739026A>C | CA402175985 | ASXL3 | c.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 |
18 | g.33739026A>G | CA402175986 | ASXL3 | c.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) | |
18 | g.33739026A>T | CA402175987 | ASXL3 | c.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) | |
18 | g.33739026_33739028delinsACT | CA2294855788 | ASXL3 | c.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=) | |
18 | g.33739027C>A | CA402175988 | ASXL3 | c.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) | |
18 | g.33739027C= | CA2294855789 | ASXL3 | c.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=) | |
18 | g.33739027C>G | CA402175989 | ASXL3 | c.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) | |
18 | g.33739027C>T | CA503768741 | ASXL3 | c.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 |
18 | g.33739031_33739032del | CA645294121 | ASXL3 | c.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 |
18 | g.33739028T>A | CA402175990 | ASXL3 | c.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) | |
18 | g.33739028T>C | CA402175991 | ASXL3 | c.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) | |
18 | g.33739028T>G | CA402175992 | ASXL3 | c.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 |
18 | g.33739028T= | CA2294855790 | ASXL3 | c.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=) | |
18 | g.33739029C>A | CA402175995 | ASXL3 | c.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) | |
18 | g.33739029C>G | CA402175994 | ASXL3 | c.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) | |
18 | g.33739029C>T | CA402175993 | ASXL3 | c.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) | |
18 | g.33739030T>A | CA503768743 | ASXL3 | c.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=) | |
18 | g.33739030T>C | CA503768745 | ASXL3 | c.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=) | |
18 | g.33739030T>G | CA503768746 | ASXL3 | c.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=) | |
18 | g.33739031C>A | CA402175996 | ASXL3 | c.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) | |
18 | g.33739031C>G | CA402175997 | ASXL3 | c.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) | |
18 | g.33739031C>T | CA402175998 | ASXL3 | c.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) | |
18 | g.33739032T>A | CA402175999 | ASXL3 | c.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) | |
18 | g.33739032T>C | CA402176000 | ASXL3 | c.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) | |
18 | g.33739032T>G | CA402176001 | ASXL3 | c.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) | |
18 | g.33739032_33739033del | CA2580095657 | ASXL3 | c.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 |
18 | g.33739033T>A | CA503768751 | ASXL3 | c.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=) | |
18 | g.33739033T>C | CA503768752 | ASXL3 | c.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=) | |
18 | g.33739033T>G | CA503768753 | ASXL3 | c.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=) | |
18 | g.33739034A>C | CA402176002 | ASXL3 | c.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) | |
18 | g.33739034A>G | CA402176003 | ASXL3 | c.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 |
18 | g.33739034A>T | CA402176004 | ASXL3 | c.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) | |
18 | g.33739035T>A | CA402176005 | ASXL3 | c.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) | |
18 | g.33739035T>C | CA402176006 | ASXL3 | c.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 |
18 | g.33739035T>G | CA402176007 | ASXL3 | c.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) | |
18 | g.33739036del | CA658791349 | ASXL3 | c.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) | |
18 | g.33739036T>A | CA503768760 | ASXL3 | c.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=) | |
18 | g.33739036T>C | CA503768757 | ASXL3 | c.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 |
18 | g.33739036T>G | CA402176008 | ASXL3 | c.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) | |
18 | g.33739036T= | CA2294855791 | ASXL3 | c.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=) | |
18 | g.33739037C>A | CA402176010 | ASXL3 | c.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) | |
18 | g.33739037C= | CA2294855792 | ASXL3 | c.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=) | |
18 | g.33739037C>G | CA402176009 | ASXL3 | c.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) | |
18 | g.33739037C>T | CA297786859 | ASXL3 | c.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 |
18 | g.33739038C>A | CA402176011 | ASXL3 | c.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) | |
18 | g.33739038C= | CA2294855793 | ASXL3 | c.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=) | |
18 | g.33739038C>G | CA402176012 | ASXL3 | c.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) | |
18 | g.33739038C>T | CA402176013 | ASXL3 | c.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 |
18 | g.33739042_33739047del | CA2576484112 | ASXL3 | c.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 |
18 | g.33739039T>A | CA503768762 | ASXL3 | c.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=) | |
18 | g.33739039T>C | CA503768764 | ASXL3 | c.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 |
18 | g.33739039T>G | CA503768767 | ASXL3 | c.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=) |