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.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.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=) | |
18 | g.33739040T>A | CA402176014 | ASXL3 | c.1639T>A (p.Ser547Thr) c.1636T>A (p.Ser546Thr) c.*760T>A (n.*760T>A) c.*1295T>A (n.*1295T>A) c.1848T>A (n.1848T>A) c.1468T>A (p.Ser490Thr) c.1516T>A (p.Ser506Thr) c.1612T>A (p.Ser538Thr) c.1558T>A (p.Ser520Thr) c.1519T>A (p.Ser507Thr) | |
18 | g.33739040T>C | CA402176015 | ASXL3 | c.1639T>C (p.Ser547Pro) c.1636T>C (p.Ser546Pro) c.*760T>C (n.*760T>C) c.*1295T>C (n.*1295T>C) c.1848T>C (n.1848T>C) c.1468T>C (p.Ser490Pro) c.1516T>C (p.Ser506Pro) c.1612T>C (p.Ser538Pro) c.1558T>C (p.Ser520Pro) c.1519T>C (p.Ser507Pro) | |
18 | g.33739040T>G | CA402176016 | ASXL3 | c.1639T>G (p.Ser547Ala) c.1636T>G (p.Ser546Ala) c.*760T>G (n.*760T>G) c.*1295T>G (n.*1295T>G) c.1848T>G (n.1848T>G) c.1468T>G (p.Ser490Ala) c.1516T>G (p.Ser506Ala) c.1612T>G (p.Ser538Ala) c.1558T>G (p.Ser520Ala) c.1519T>G (p.Ser507Ala) | |
18 | g.33739041C>A | CA402176017 | ASXL3 | c.1640C>A (p.Ser547Tyr) c.1637C>A (p.Ser546Tyr) c.*761C>A (n.*761C>A) c.*1296C>A (n.*1296C>A) c.1849C>A (n.1849C>A) c.1469C>A (p.Ser490Tyr) c.1517C>A (p.Ser506Tyr) c.1613C>A (p.Ser538Tyr) c.1559C>A (p.Ser520Tyr) c.1520C>A (p.Ser507Tyr) | |
18 | g.33739041C>G | CA402176018 | ASXL3 | c.1640C>G (p.Ser547Cys) c.1637C>G (p.Ser546Cys) c.*761C>G (n.*761C>G) c.*1296C>G (n.*1296C>G) c.1849C>G (n.1849C>G) c.1469C>G (p.Ser490Cys) c.1517C>G (p.Ser506Cys) c.1613C>G (p.Ser538Cys) c.1559C>G (p.Ser520Cys) c.1520C>G (p.Ser507Cys) | gnomAD v4 |
18 | g.33739041C>T | CA402176019 | ASXL3 | c.1640C>T (p.Ser547Phe) c.1637C>T (p.Ser546Phe) c.*761C>T (n.*761C>T) c.*1296C>T (n.*1296C>T) c.1849C>T (n.1849C>T) c.1469C>T (p.Ser490Phe) c.1517C>T (p.Ser506Phe) c.1613C>T (p.Ser538Phe) c.1559C>T (p.Ser520Phe) c.1520C>T (p.Ser507Phe) | gnomAD v4 |
18 | g.33739042C>A | CA503768768 | ASXL3 | c.1641C>A (p.Ser547=) c.1638C>A (p.Ser546=) c.*762C>A (n.*762C>A) c.*1297C>A (n.*1297C>A) c.1850C>A (n.1850C>A) c.1470C>A (p.Ser490=) c.1518C>A (p.Ser506=) c.1614C>A (p.Ser538=) c.1560C>A (p.Ser520=) c.1521C>A (p.Ser507=) | |
18 | g.33739042C= | CA2294855794 | ASXL3 | c.1641C= (p.Ser547=) c.1638C= (p.Ser546=) c.*762C= (n.*762C=) c.*1297C= (n.*1297C=) c.1850C= (n.1850C=) c.1470C= (p.Ser490=) c.1518C= (p.Ser506=) c.1614C= (p.Ser538=) c.1560C= (p.Ser520=) c.1521C= (p.Ser507=) | |
18 | g.33739042C>G | CA503768771 | ASXL3 | c.1641C>G (p.Ser547=) c.1638C>G (p.Ser546=) c.*762C>G (n.*762C>G) c.*1297C>G (n.*1297C>G) c.1850C>G (n.1850C>G) c.1470C>G (p.Ser490=) c.1518C>G (p.Ser506=) c.1614C>G (p.Ser538=) c.1560C>G (p.Ser520=) c.1521C>G (p.Ser507=) | dbSNP |
18 | g.33739042C>T | CA8933784 | ASXL3 | c.1641C>T (p.Ser547=) c.1638C>T (p.Ser546=) c.*762C>T (n.*762C>T) c.*1297C>T (n.*1297C>T) c.1850C>T (n.1850C>T) c.1470C>T (p.Ser490=) c.1518C>T (p.Ser506=) c.1614C>T (p.Ser538=) c.1560C>T (p.Ser520=) c.1521C>T (p.Ser507=) | dbSNP ExAC gnomAD v2 |
18 | g.33739043A>C | CA402176022 | ASXL3 | c.1642A>C (p.Thr548Pro) c.1639A>C (p.Thr547Pro) c.*763A>C (n.*763A>C) c.*1298A>C (n.*1298A>C) c.1851A>C (n.1851A>C) c.1471A>C (p.Thr491Pro) c.1519A>C (p.Thr507Pro) c.1615A>C (p.Thr539Pro) c.1561A>C (p.Thr521Pro) c.1522A>C (p.Thr508Pro) | |
18 | g.33739043A>G | CA402176020 | ASXL3 | c.1642A>G (p.Thr548Ala) c.1639A>G (p.Thr547Ala) c.*763A>G (n.*763A>G) c.*1298A>G (n.*1298A>G) c.1851A>G (n.1851A>G) c.1471A>G (p.Thr491Ala) c.1519A>G (p.Thr507Ala) c.1615A>G (p.Thr539Ala) c.1561A>G (p.Thr521Ala) c.1522A>G (p.Thr508Ala) | |
18 | g.33739043A>T | CA402176021 | ASXL3 | c.1642A>T (p.Thr548Ser) c.1639A>T (p.Thr547Ser) c.*763A>T (n.*763A>T) c.*1298A>T (n.*1298A>T) c.1851A>T (n.1851A>T) c.1471A>T (p.Thr491Ser) c.1519A>T (p.Thr507Ser) c.1615A>T (p.Thr539Ser) c.1561A>T (p.Thr521Ser) c.1522A>T (p.Thr508Ser) | gnomAD v4 |
18 | g.33739044C>A | CA402176023 | ASXL3 | c.1643C>A (p.Thr548Asn) c.1640C>A (p.Thr547Asn) c.*764C>A (n.*764C>A) c.*1299C>A (n.*1299C>A) c.1852C>A (n.1852C>A) c.1472C>A (p.Thr491Asn) c.1520C>A (p.Thr507Asn) c.1616C>A (p.Thr539Asn) c.1562C>A (p.Thr521Asn) c.1523C>A (p.Thr508Asn) | |
18 | g.33739044C= | CA2294855795 | ASXL3 | c.1643C= (p.Thr548=) c.1640C= (p.Thr547=) c.*764C= (n.*764C=) c.*1299C= (n.*1299C=) c.1852C= (n.1852C=) c.1472C= (p.Thr491=) c.1520C= (p.Thr507=) c.1616C= (p.Thr539=) c.1562C= (p.Thr521=) c.1523C= (p.Thr508=) | |
18 | g.33739044C>G | CA402176024 | ASXL3 | c.1643C>G (p.Thr548Ser) c.1640C>G (p.Thr547Ser) c.*764C>G (n.*764C>G) c.*1299C>G (n.*1299C>G) c.1852C>G (n.1852C>G) c.1472C>G (p.Thr491Ser) c.1520C>G (p.Thr507Ser) c.1616C>G (p.Thr539Ser) c.1562C>G (p.Thr521Ser) c.1523C>G (p.Thr508Ser) | |
18 | g.33739044C>T | CA402176025 | ASXL3 | c.1643C>T (p.Thr548Ile) c.1640C>T (p.Thr547Ile) c.*764C>T (n.*764C>T) c.*1299C>T (n.*1299C>T) c.1852C>T (n.1852C>T) c.1472C>T (p.Thr491Ile) c.1520C>T (p.Thr507Ile) c.1616C>T (p.Thr539Ile) c.1562C>T (p.Thr521Ile) c.1523C>T (p.Thr508Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739045T>A | CA503768772 | ASXL3 | c.1644T>A (p.Thr548=) c.1641T>A (p.Thr547=) c.*765T>A (n.*765T>A) c.*1300T>A (n.*1300T>A) c.1853T>A (n.1853T>A) c.1473T>A (p.Thr491=) c.1521T>A (p.Thr507=) c.1617T>A (p.Thr539=) c.1563T>A (p.Thr521=) c.1524T>A (p.Thr508=) | |
18 | g.33739045T>C | CA503768773 | ASXL3 | c.1644T>C (p.Thr548=) c.1641T>C (p.Thr547=) c.*765T>C (n.*765T>C) c.*1300T>C (n.*1300T>C) c.1853T>C (n.1853T>C) c.1473T>C (p.Thr491=) c.1521T>C (p.Thr507=) c.1617T>C (p.Thr539=) c.1563T>C (p.Thr521=) c.1524T>C (p.Thr508=) | |
18 | g.33739045T>G | CA297786867 | ASXL3 | c.1644T>G (p.Thr548=) c.1641T>G (p.Thr547=) c.*765T>G (n.*765T>G) c.*1300T>G (n.*1300T>G) c.1853T>G (n.1853T>G) c.1473T>G (p.Thr491=) c.1521T>G (p.Thr507=) c.1617T>G (p.Thr539=) c.1563T>G (p.Thr521=) c.1524T>G (p.Thr508=) | dbSNP gnomAD v4 |
18 | g.33739045T= | CA2294855796 | ASXL3 | c.1644T= (p.Thr548=) c.1641T= (p.Thr547=) c.*765T= (n.*765T=) c.*1300T= (n.*1300T=) c.1853T= (n.1853T=) c.1473T= (p.Thr491=) c.1521T= (p.Thr507=) c.1617T= (p.Thr539=) c.1563T= (p.Thr521=) c.1524T= (p.Thr508=) | |
18 | g.33739046T>A | CA402176026 | ASXL3 | c.1645T>A (p.Ser549Thr) c.1642T>A (p.Ser548Thr) c.*766T>A (n.*766T>A) c.*1301T>A (n.*1301T>A) c.1854T>A (n.1854T>A) c.1474T>A (p.Ser492Thr) c.1522T>A (p.Ser508Thr) c.1618T>A (p.Ser540Thr) c.1564T>A (p.Ser522Thr) c.1525T>A (p.Ser509Thr) | |
18 | g.33739046T>C | CA402176027 | ASXL3 | c.1645T>C (p.Ser549Pro) c.1642T>C (p.Ser548Pro) c.*766T>C (n.*766T>C) c.*1301T>C (n.*1301T>C) c.1854T>C (n.1854T>C) c.1474T>C (p.Ser492Pro) c.1522T>C (p.Ser508Pro) c.1618T>C (p.Ser540Pro) c.1564T>C (p.Ser522Pro) c.1525T>C (p.Ser509Pro) | |
18 | g.33739046T>G | CA402176028 | ASXL3 | c.1645T>G (p.Ser549Ala) c.1642T>G (p.Ser548Ala) c.*766T>G (n.*766T>G) c.*1301T>G (n.*1301T>G) c.1854T>G (n.1854T>G) c.1474T>G (p.Ser492Ala) c.1522T>G (p.Ser508Ala) c.1618T>G (p.Ser540Ala) c.1564T>G (p.Ser522Ala) c.1525T>G (p.Ser509Ala) | |
18 | g.33739048_33739050dup | CA8933785 | ASXL3 | c.1647_1649dup (p.Ser550_Met551insSer) c.1644_1646dup (p.Ser549_Met550insSer) c.*768_*770dup (n.*768_*770dup) c.*1303_*1305dup (n.*1303_*1305dup) c.1856_1858dup (n.1856_1858dup) c.1476_1478dup (p.Ser493_Met494insSer) c.1524_1526dup (p.Ser509_Met510insSer) c.1620_1622dup (p.Ser541_Met542insSer) c.1566_1568dup (p.Ser523_Met524insSer) c.1527_1529dup (p.Ser510_Met511insSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739047C>A | CA402176029 | ASXL3 | c.1646C>A (p.Ser549Ter) c.1643C>A (p.Ser548Ter) c.*767C>A (n.*767C>A) c.*1302C>A (n.*1302C>A) c.1855C>A (n.1855C>A) c.1475C>A (p.Ser492Ter) c.1523C>A (p.Ser508Ter) c.1619C>A (p.Ser540Ter) c.1565C>A (p.Ser522Ter) c.1526C>A (p.Ser509Ter) | |
18 | g.33739047C= | CA2294855797 | ASXL3 | c.1646C= (p.Ser549=) c.1643C= (p.Ser548=) c.*767C= (n.*767C=) c.*1302C= (n.*1302C=) c.1855C= (n.1855C=) c.1475C= (p.Ser492=) c.1523C= (p.Ser508=) c.1619C= (p.Ser540=) c.1565C= (p.Ser522=) c.1526C= (p.Ser509=) | |
18 | g.33739047C>G | CA402176030 | ASXL3 | c.1646C>G (p.Ser549Ter) c.1643C>G (p.Ser548Ter) c.*767C>G (n.*767C>G) c.*1302C>G (n.*1302C>G) c.1855C>G (n.1855C>G) c.1475C>G (p.Ser492Ter) c.1523C>G (p.Ser508Ter) c.1619C>G (p.Ser540Ter) c.1565C>G (p.Ser522Ter) c.1526C>G (p.Ser509Ter) | |
18 | g.33739047C>T | CA8933786 | ASXL3 | c.1646C>T (p.Ser549Leu) c.1643C>T (p.Ser548Leu) c.*767C>T (n.*767C>T) c.*1302C>T (n.*1302C>T) c.1855C>T (n.1855C>T) c.1475C>T (p.Ser492Leu) c.1523C>T (p.Ser508Leu) c.1619C>T (p.Ser540Leu) c.1565C>T (p.Ser522Leu) c.1526C>T (p.Ser509Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739048A>C | CA503768778 | ASXL3 | c.1647A>C (p.Ser549=) c.1644A>C (p.Ser548=) c.*768A>C (n.*768A>C) c.*1303A>C (n.*1303A>C) c.1856A>C (n.1856A>C) c.1476A>C (p.Ser492=) c.1524A>C (p.Ser508=) c.1620A>C (p.Ser540=) c.1566A>C (p.Ser522=) c.1527A>C (p.Ser509=) | |
18 | g.33739048A>G | CA503768780 | ASXL3 | c.1647A>G (p.Ser549=) c.1644A>G (p.Ser548=) c.*768A>G (n.*768A>G) c.*1303A>G (n.*1303A>G) c.1856A>G (n.1856A>G) c.1476A>G (p.Ser492=) c.1524A>G (p.Ser508=) c.1620A>G (p.Ser540=) c.1566A>G (p.Ser522=) c.1527A>G (p.Ser509=) | |
18 | g.33739048A>T | CA503768782 | ASXL3 | c.1647A>T (p.Ser549=) c.1644A>T (p.Ser548=) c.*768A>T (n.*768A>T) c.*1303A>T (n.*1303A>T) c.1856A>T (n.1856A>T) c.1476A>T (p.Ser492=) c.1524A>T (p.Ser508=) c.1620A>T (p.Ser540=) c.1566A>T (p.Ser522=) c.1527A>T (p.Ser509=) | |
18 | g.33739049T>A | CA402176033 | ASXL3 | c.1648T>A (p.Ser550Thr) c.1645T>A (p.Ser549Thr) c.*769T>A (n.*769T>A) c.*1304T>A (n.*1304T>A) c.1857T>A (n.1857T>A) c.1477T>A (p.Ser493Thr) c.1525T>A (p.Ser509Thr) c.1621T>A (p.Ser541Thr) c.1567T>A (p.Ser523Thr) c.1528T>A (p.Ser510Thr) | |
18 | g.33739049T>C | CA402176032 | ASXL3 | c.1648T>C (p.Ser550Pro) c.1645T>C (p.Ser549Pro) c.*769T>C (n.*769T>C) c.*1304T>C (n.*1304T>C) c.1857T>C (n.1857T>C) c.1477T>C (p.Ser493Pro) c.1525T>C (p.Ser509Pro) c.1621T>C (p.Ser541Pro) c.1567T>C (p.Ser523Pro) c.1528T>C (p.Ser510Pro) | |
18 | g.33739049T>G | CA402176031 | ASXL3 | c.1648T>G (p.Ser550Ala) c.1645T>G (p.Ser549Ala) c.*769T>G (n.*769T>G) c.*1304T>G (n.*1304T>G) c.1857T>G (n.1857T>G) c.1477T>G (p.Ser493Ala) c.1525T>G (p.Ser509Ala) c.1621T>G (p.Ser541Ala) c.1567T>G (p.Ser523Ala) c.1528T>G (p.Ser510Ala) | |
18 | g.33739050C>A | CA402176034 | ASXL3 | c.1649C>A (p.Ser550Tyr) c.1646C>A (p.Ser549Tyr) c.*770C>A (n.*770C>A) c.*1305C>A (n.*1305C>A) c.1858C>A (n.1858C>A) c.1478C>A (p.Ser493Tyr) c.1526C>A (p.Ser509Tyr) c.1622C>A (p.Ser541Tyr) c.1568C>A (p.Ser523Tyr) c.1529C>A (p.Ser510Tyr) | COSMIC COSMIC |
18 | g.33739050C= | CA2294855798 | ASXL3 | c.1649C= (p.Ser550=) c.1646C= (p.Ser549=) c.*770C= (n.*770C=) c.*1305C= (n.*1305C=) c.1858C= (n.1858C=) c.1478C= (p.Ser493=) c.1526C= (p.Ser509=) c.1622C= (p.Ser541=) c.1568C= (p.Ser523=) c.1529C= (p.Ser510=) | |
18 | g.33739050C>G | CA402176035 | ASXL3 | c.1649C>G (p.Ser550Cys) c.1646C>G (p.Ser549Cys) c.*770C>G (n.*770C>G) c.*1305C>G (n.*1305C>G) c.1858C>G (n.1858C>G) c.1478C>G (p.Ser493Cys) c.1526C>G (p.Ser509Cys) c.1622C>G (p.Ser541Cys) c.1568C>G (p.Ser523Cys) c.1529C>G (p.Ser510Cys) | |
18 | g.33739050C>T | CA8933787 | ASXL3 | c.1649C>T (p.Ser550Phe) c.1646C>T (p.Ser549Phe) c.*770C>T (n.*770C>T) c.*1305C>T (n.*1305C>T) c.1858C>T (n.1858C>T) c.1478C>T (p.Ser493Phe) c.1526C>T (p.Ser509Phe) c.1622C>T (p.Ser541Phe) c.1568C>T (p.Ser523Phe) c.1529C>T (p.Ser510Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739051T>A | CA503768783 | ASXL3 | c.1650T>A (p.Ser550=) c.1647T>A (p.Ser549=) c.*771T>A (n.*771T>A) c.*1306T>A (n.*1306T>A) c.1859T>A (n.1859T>A) c.1479T>A (p.Ser493=) c.1527T>A (p.Ser509=) c.1623T>A (p.Ser541=) c.1569T>A (p.Ser523=) c.1530T>A (p.Ser510=) | |
18 | g.33739051T>C | CA503768785 | ASXL3 | c.1650T>C (p.Ser550=) c.1647T>C (p.Ser549=) c.*771T>C (n.*771T>C) c.*1306T>C (n.*1306T>C) c.1859T>C (n.1859T>C) c.1479T>C (p.Ser493=) c.1527T>C (p.Ser509=) c.1623T>C (p.Ser541=) c.1569T>C (p.Ser523=) c.1530T>C (p.Ser510=) | |
18 | g.33739051T>G | CA503768786 | ASXL3 | c.1650T>G (p.Ser550=) c.1647T>G (p.Ser549=) c.*771T>G (n.*771T>G) c.*1306T>G (n.*1306T>G) c.1859T>G (n.1859T>G) c.1479T>G (p.Ser493=) c.1527T>G (p.Ser509=) c.1623T>G (p.Ser541=) c.1569T>G (p.Ser523=) c.1530T>G (p.Ser510=) | |
18 | g.33739052A= | CA2294855799 | ASXL3 | c.1651A= (p.Met551=) c.1648A= (p.Met550=) c.*772A= (n.*772A=) c.*1307A= (n.*1307A=) c.1860A= (n.1860A=) c.1480A= (p.Met494=) c.1528A= (p.Met510=) c.1624A= (p.Met542=) c.1570A= (p.Met524=) c.1531A= (p.Met511=) | |
18 | g.33739052A>C | CA402176036 | ASXL3 | c.1651A>C (p.Met551Leu) c.1648A>C (p.Met550Leu) c.*772A>C (n.*772A>C) c.*1307A>C (n.*1307A>C) c.1860A>C (n.1860A>C) c.1480A>C (p.Met494Leu) c.1528A>C (p.Met510Leu) c.1624A>C (p.Met542Leu) c.1570A>C (p.Met524Leu) c.1531A>C (p.Met511Leu) | |
18 | g.33739052A>G | CA8933788 | ASXL3 | c.1651A>G (p.Met551Val) c.1648A>G (p.Met550Val) c.*772A>G (n.*772A>G) c.*1307A>G (n.*1307A>G) c.1860A>G (n.1860A>G) c.1480A>G (p.Met494Val) c.1528A>G (p.Met510Val) c.1624A>G (p.Met542Val) c.1570A>G (p.Met524Val) c.1531A>G (p.Met511Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739052A>T | CA402176037 | ASXL3 | c.1651A>T (p.Met551Leu) c.1648A>T (p.Met550Leu) c.*772A>T (n.*772A>T) c.*1307A>T (n.*1307A>T) c.1860A>T (n.1860A>T) c.1480A>T (p.Met494Leu) c.1528A>T (p.Met510Leu) c.1624A>T (p.Met542Leu) c.1570A>T (p.Met524Leu) c.1531A>T (p.Met511Leu) | |
18 | g.33739053T>A | CA402176039 | ASXL3 | c.1652T>A (p.Met551Lys) c.1649T>A (p.Met550Lys) c.*773T>A (n.*773T>A) c.*1308T>A (n.*1308T>A) c.1861T>A (n.1861T>A) c.1481T>A (p.Met494Lys) c.1529T>A (p.Met510Lys) c.1625T>A (p.Met542Lys) c.1571T>A (p.Met524Lys) c.1532T>A (p.Met511Lys) | |
18 | g.33739053T>C | CA8933789 | ASXL3 | c.1652T>C (p.Met551Thr) c.1649T>C (p.Met550Thr) c.*773T>C (n.*773T>C) c.*1308T>C (n.*1308T>C) c.1861T>C (n.1861T>C) c.1481T>C (p.Met494Thr) c.1529T>C (p.Met510Thr) c.1625T>C (p.Met542Thr) c.1571T>C (p.Met524Thr) c.1532T>C (p.Met511Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739053T>G | CA402176038 | ASXL3 | c.1652T>G (p.Met551Arg) c.1649T>G (p.Met550Arg) c.*773T>G (n.*773T>G) c.*1308T>G (n.*1308T>G) c.1861T>G (n.1861T>G) c.1481T>G (p.Met494Arg) c.1529T>G (p.Met510Arg) c.1625T>G (p.Met542Arg) c.1571T>G (p.Met524Arg) c.1532T>G (p.Met511Arg) | |
18 | g.33739053T= | CA2294855800 | ASXL3 | c.1652T= (p.Met551=) c.1649T= (p.Met550=) c.*773T= (n.*773T=) c.*1308T= (n.*1308T=) c.1861T= (n.1861T=) c.1481T= (p.Met494=) c.1529T= (p.Met510=) c.1625T= (p.Met542=) c.1571T= (p.Met524=) c.1532T= (p.Met511=) | |
18 | g.33739054G>A | CA402176040 | ASXL3 | c.1653G>A (p.Met551Ile) c.1650G>A (p.Met550Ile) c.*774G>A (n.*774G>A) c.*1309G>A (n.*1309G>A) c.1862G>A (n.1862G>A) c.1482G>A (p.Met494Ile) c.1530G>A (p.Met510Ile) c.1626G>A (p.Met542Ile) c.1572G>A (p.Met524Ile) c.1533G>A (p.Met511Ile) | |
18 | g.33739054G>C | CA402176041 | ASXL3 | c.1653G>C (p.Met551Ile) c.1650G>C (p.Met550Ile) c.*774G>C (n.*774G>C) c.*1309G>C (n.*1309G>C) c.1862G>C (n.1862G>C) c.1482G>C (p.Met494Ile) c.1530G>C (p.Met510Ile) c.1626G>C (p.Met542Ile) c.1572G>C (p.Met524Ile) c.1533G>C (p.Met511Ile) | |
18 | g.33739054G>T | CA402176042 | ASXL3 | c.1653G>T (p.Met551Ile) c.1650G>T (p.Met550Ile) c.*774G>T (n.*774G>T) c.*1309G>T (n.*1309G>T) c.1862G>T (n.1862G>T) c.1482G>T (p.Met494Ile) c.1530G>T (p.Met510Ile) c.1626G>T (p.Met542Ile) c.1572G>T (p.Met524Ile) c.1533G>T (p.Met511Ile) | gnomAD v4 |
18 | g.33739055A>C | CA402176043 | ASXL3 | c.1654A>C (p.Thr552Pro) c.1651A>C (p.Thr551Pro) c.*775A>C (n.*775A>C) c.*1310A>C (n.*1310A>C) c.1863A>C (n.1863A>C) c.1483A>C (p.Thr495Pro) c.1531A>C (p.Thr511Pro) c.1627A>C (p.Thr543Pro) c.1573A>C (p.Thr525Pro) c.1534A>C (p.Thr512Pro) | |
18 | g.33739055A>G | CA402176044 | ASXL3 | c.1654A>G (p.Thr552Ala) c.1651A>G (p.Thr551Ala) c.*775A>G (n.*775A>G) c.*1310A>G (n.*1310A>G) c.1863A>G (n.1863A>G) c.1483A>G (p.Thr495Ala) c.1531A>G (p.Thr511Ala) c.1627A>G (p.Thr543Ala) c.1573A>G (p.Thr525Ala) c.1534A>G (p.Thr512Ala) | |
18 | g.33739055A>T | CA402176045 | ASXL3 | c.1654A>T (p.Thr552Ser) c.1651A>T (p.Thr551Ser) c.*775A>T (n.*775A>T) c.*1310A>T (n.*1310A>T) c.1863A>T (n.1863A>T) c.1483A>T (p.Thr495Ser) c.1531A>T (p.Thr511Ser) c.1627A>T (p.Thr543Ser) c.1573A>T (p.Thr525Ser) c.1534A>T (p.Thr512Ser) | |
18 | g.33739056C>A | CA402176046 | ASXL3 | c.1655C>A (p.Thr552Asn) c.1652C>A (p.Thr551Asn) c.*776C>A (n.*776C>A) c.*1311C>A (n.*1311C>A) c.1864C>A (n.1864C>A) c.1484C>A (p.Thr495Asn) c.1532C>A (p.Thr511Asn) c.1628C>A (p.Thr543Asn) c.1574C>A (p.Thr525Asn) c.1535C>A (p.Thr512Asn) | |
18 | g.33739056C>G | CA402176048 | ASXL3 | c.1655C>G (p.Thr552Ser) c.1652C>G (p.Thr551Ser) c.*776C>G (n.*776C>G) c.*1311C>G (n.*1311C>G) c.1864C>G (n.1864C>G) c.1484C>G (p.Thr495Ser) c.1532C>G (p.Thr511Ser) c.1628C>G (p.Thr543Ser) c.1574C>G (p.Thr525Ser) c.1535C>G (p.Thr512Ser) | |
18 | g.33739056C>T | CA402176047 | ASXL3 | c.1655C>T (p.Thr552Ile) c.1652C>T (p.Thr551Ile) c.*776C>T (n.*776C>T) c.*1311C>T (n.*1311C>T) c.1864C>T (n.1864C>T) c.1484C>T (p.Thr495Ile) c.1532C>T (p.Thr511Ile) c.1628C>T (p.Thr543Ile) c.1574C>T (p.Thr525Ile) c.1535C>T (p.Thr512Ile) | |
18 | g.33739057T>A | CA503768793 | ASXL3 | c.1656T>A (p.Thr552=) c.1653T>A (p.Thr551=) c.*777T>A (n.*777T>A) c.*1312T>A (n.*1312T>A) c.1865T>A (n.1865T>A) c.1485T>A (p.Thr495=) c.1533T>A (p.Thr511=) c.1629T>A (p.Thr543=) c.1575T>A (p.Thr525=) c.1536T>A (p.Thr512=) | |
18 | g.33739057T>C | CA503768794 | ASXL3 | c.1656T>C (p.Thr552=) c.1653T>C (p.Thr551=) c.*777T>C (n.*777T>C) c.*1312T>C (n.*1312T>C) c.1865T>C (n.1865T>C) c.1485T>C (p.Thr495=) c.1533T>C (p.Thr511=) c.1629T>C (p.Thr543=) c.1575T>C (p.Thr525=) c.1536T>C (p.Thr512=) | |
18 | g.33739057T>G | CA503768796 | ASXL3 | c.1656T>G (p.Thr552=) c.1653T>G (p.Thr551=) c.*777T>G (n.*777T>G) c.*1312T>G (n.*1312T>G) c.1865T>G (n.1865T>G) c.1485T>G (p.Thr495=) c.1533T>G (p.Thr511=) c.1629T>G (p.Thr543=) c.1575T>G (p.Thr525=) c.1536T>G (p.Thr512=) | |
18 | g.33739058C>A | CA402176049 | ASXL3 | c.1657C>A (p.His553Asn) c.1654C>A (p.His552Asn) c.*778C>A (n.*778C>A) c.*1313C>A (n.*1313C>A) c.1866C>A (n.1866C>A) c.1486C>A (p.His496Asn) c.1534C>A (p.His512Asn) c.1630C>A (p.His544Asn) c.1576C>A (p.His526Asn) c.1537C>A (p.His513Asn) | COSMIC COSMIC |
18 | g.33739058C= | CA2294855801 | ASXL3 | c.1657C= (p.His553=) c.1654C= (p.His552=) c.*778C= (n.*778C=) c.*1313C= (n.*1313C=) c.1866C= (n.1866C=) c.1486C= (p.His496=) c.1534C= (p.His512=) c.1630C= (p.His544=) c.1576C= (p.His526=) c.1537C= (p.His513=) | |
18 | g.33739058C>G | CA402176050 | ASXL3 | c.1657C>G (p.His553Asp) c.1654C>G (p.His552Asp) c.*778C>G (n.*778C>G) c.*1313C>G (n.*1313C>G) c.1866C>G (n.1866C>G) c.1486C>G (p.His496Asp) c.1534C>G (p.His512Asp) c.1630C>G (p.His544Asp) c.1576C>G (p.His526Asp) c.1537C>G (p.His513Asp) | |
18 | g.33739058C>T | CA206097 | ASXL3 | c.1657C>T (p.His553Tyr) c.1654C>T (p.His552Tyr) c.*778C>T (n.*778C>T) c.*1313C>T (n.*1313C>T) c.1866C>T (n.1866C>T) c.1486C>T (p.His496Tyr) c.1534C>T (p.His512Tyr) c.1630C>T (p.His544Tyr) c.1576C>T (p.His526Tyr) c.1537C>T (p.His513Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.33739059A= | CA2294855802 | ASXL3 | c.1658A= (p.His553=) c.1655A= (p.His552=) c.*779A= (n.*779A=) c.*1314A= (n.*1314A=) c.1867A= (n.1867A=) c.1487A= (p.His496=) c.1535A= (p.His512=) c.1631A= (p.His544=) c.1577A= (p.His526=) c.1538A= (p.His513=) | |
18 | g.33739059A>C | CA402176051 | ASXL3 | c.1658A>C (p.His553Pro) c.1655A>C (p.His552Pro) c.*779A>C (n.*779A>C) c.*1314A>C (n.*1314A>C) c.1867A>C (n.1867A>C) c.1487A>C (p.His496Pro) c.1535A>C (p.His512Pro) c.1631A>C (p.His544Pro) c.1577A>C (p.His526Pro) c.1538A>C (p.His513Pro) | |
18 | g.33739059A>G | CA402176052 | ASXL3 | c.1658A>G (p.His553Arg) c.1655A>G (p.His552Arg) c.*779A>G (n.*779A>G) c.*1314A>G (n.*1314A>G) c.1867A>G (n.1867A>G) c.1487A>G (p.His496Arg) c.1535A>G (p.His512Arg) c.1631A>G (p.His544Arg) c.1577A>G (p.His526Arg) c.1538A>G (p.His513Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739059A>T | CA402176053 | ASXL3 | c.1658A>T (p.His553Leu) c.1655A>T (p.His552Leu) c.*779A>T (n.*779A>T) c.*1314A>T (n.*1314A>T) c.1867A>T (n.1867A>T) c.1487A>T (p.His496Leu) c.1535A>T (p.His512Leu) c.1631A>T (p.His544Leu) c.1577A>T (p.His526Leu) c.1538A>T (p.His513Leu) | gnomAD v4 |
18 | g.33739060T>A | CA402176054 | ASXL3 | c.1659T>A (p.His553Gln) c.1656T>A (p.His552Gln) c.*780T>A (n.*780T>A) c.*1315T>A (n.*1315T>A) c.1868T>A (n.1868T>A) c.1488T>A (p.His496Gln) c.1536T>A (p.His512Gln) c.1632T>A (p.His544Gln) c.1578T>A (p.His526Gln) c.1539T>A (p.His513Gln) | |
18 | g.33739060T>C | CA503768801 | ASXL3 | c.1659T>C (p.His553=) c.1656T>C (p.His552=) c.*780T>C (n.*780T>C) c.*1315T>C (n.*1315T>C) c.1868T>C (n.1868T>C) c.1488T>C (p.His496=) c.1536T>C (p.His512=) c.1632T>C (p.His544=) c.1578T>C (p.His526=) c.1539T>C (p.His513=) | |
18 | g.33739060T>G | CA402176055 | ASXL3 | c.1659T>G (p.His553Gln) c.1656T>G (p.His552Gln) c.*780T>G (n.*780T>G) c.*1315T>G (n.*1315T>G) c.1868T>G (n.1868T>G) c.1488T>G (p.His496Gln) c.1536T>G (p.His512Gln) c.1632T>G (p.His544Gln) c.1578T>G (p.His526Gln) c.1539T>G (p.His513Gln) | |
18 | g.33739061G>A | CA402176056 | ASXL3 | c.1660G>A (p.Val554Ile) c.1657G>A (p.Val553Ile) c.*781G>A (n.*781G>A) c.*1316G>A (n.*1316G>A) c.1869G>A (n.1869G>A) c.1489G>A (p.Val497Ile) c.1537G>A (p.Val513Ile) c.1633G>A (p.Val545Ile) c.1579G>A (p.Val527Ile) c.1540G>A (p.Val514Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739061G>C | CA402176057 | ASXL3 | c.1660G>C (p.Val554Leu) c.1657G>C (p.Val553Leu) c.*781G>C (n.*781G>C) c.*1316G>C (n.*1316G>C) c.1869G>C (n.1869G>C) c.1489G>C (p.Val497Leu) c.1537G>C (p.Val513Leu) c.1633G>C (p.Val545Leu) c.1579G>C (p.Val527Leu) c.1540G>C (p.Val514Leu) | |
18 | g.33739061G= | CA2294855803 | ASXL3 | c.1660G= (p.Val554=) c.1657G= (p.Val553=) c.*781G= (n.*781G=) c.*1316G= (n.*1316G=) c.1869G= (n.1869G=) c.1489G= (p.Val497=) c.1537G= (p.Val513=) c.1633G= (p.Val545=) c.1579G= (p.Val527=) c.1540G= (p.Val514=) | |
18 | g.33739061G>T | CA402176058 | ASXL3 | c.1660G>T (p.Val554Phe) c.1657G>T (p.Val553Phe) c.*781G>T (n.*781G>T) c.*1316G>T (n.*1316G>T) c.1869G>T (n.1869G>T) c.1489G>T (p.Val497Phe) c.1537G>T (p.Val513Phe) c.1633G>T (p.Val545Phe) c.1579G>T (p.Val527Phe) c.1540G>T (p.Val514Phe) | |
18 | g.33739062T>A | CA402176059 | ASXL3 | c.1661T>A (p.Val554Asp) c.1658T>A (p.Val553Asp) c.*782T>A (n.*782T>A) c.*1317T>A (n.*1317T>A) c.1870T>A (n.1870T>A) c.1490T>A (p.Val497Asp) c.1538T>A (p.Val513Asp) c.1634T>A (p.Val545Asp) c.1580T>A (p.Val527Asp) c.1541T>A (p.Val514Asp) | |
18 | g.33739062T>C | CA402176061 | ASXL3 | c.1661T>C (p.Val554Ala) c.1658T>C (p.Val553Ala) c.*782T>C (n.*782T>C) c.*1317T>C (n.*1317T>C) c.1870T>C (n.1870T>C) c.1490T>C (p.Val497Ala) c.1538T>C (p.Val513Ala) c.1634T>C (p.Val545Ala) c.1580T>C (p.Val527Ala) c.1541T>C (p.Val514Ala) | |
18 | g.33739062T>G | CA402176060 | ASXL3 | c.1661T>G (p.Val554Gly) c.1658T>G (p.Val553Gly) c.*782T>G (n.*782T>G) c.*1317T>G (n.*1317T>G) c.1870T>G (n.1870T>G) c.1490T>G (p.Val497Gly) c.1538T>G (p.Val513Gly) c.1634T>G (p.Val545Gly) c.1580T>G (p.Val527Gly) c.1541T>G (p.Val514Gly) | |
18 | g.33739063C>A | CA503768804 | ASXL3 | c.1662C>A (p.Val554=) c.1659C>A (p.Val553=) c.*783C>A (n.*783C>A) c.*1318C>A (n.*1318C>A) c.1871C>A (n.1871C>A) c.1491C>A (p.Val497=) c.1539C>A (p.Val513=) c.1635C>A (p.Val545=) c.1581C>A (p.Val527=) c.1542C>A (p.Val514=) | |
18 | g.33739063C= | CA2294855804 | ASXL3 | c.1662C= (p.Val554=) c.1659C= (p.Val553=) c.*783C= (n.*783C=) c.*1318C= (n.*1318C=) c.1871C= (n.1871C=) c.1491C= (p.Val497=) c.1539C= (p.Val513=) c.1635C= (p.Val545=) c.1581C= (p.Val527=) c.1542C= (p.Val514=) | |
18 | g.33739063C>G | CA503768806 | ASXL3 | c.1662C>G (p.Val554=) c.1659C>G (p.Val553=) c.*783C>G (n.*783C>G) c.*1318C>G (n.*1318C>G) c.1871C>G (n.1871C>G) c.1491C>G (p.Val497=) c.1539C>G (p.Val513=) c.1635C>G (p.Val545=) c.1581C>G (p.Val527=) c.1542C>G (p.Val514=) | |
18 | g.33739063C>T | CA503768808 | ASXL3 | c.1662C>T (p.Val554=) c.1659C>T (p.Val553=) c.*783C>T (n.*783C>T) c.*1318C>T (n.*1318C>T) c.1871C>T (n.1871C>T) c.1491C>T (p.Val497=) c.1539C>T (p.Val513=) c.1635C>T (p.Val545=) c.1581C>T (p.Val527=) c.1542C>T (p.Val514=) | dbSNP |
18 | g.33739064A= | CA2294855805 | ASXL3 | c.1663A= (p.Ser555=) c.1660A= (p.Ser554=) c.*784A= (n.*784A=) c.*1319A= (n.*1319A=) c.1872A= (n.1872A=) c.1492A= (p.Ser498=) c.1540A= (p.Ser514=) c.1636A= (p.Ser546=) c.1582A= (p.Ser528=) c.1543A= (p.Ser515=) | |
18 | g.33739064A>C | CA402176062 | ASXL3 | c.1663A>C (p.Ser555Arg) c.1660A>C (p.Ser554Arg) c.*784A>C (n.*784A>C) c.*1319A>C (n.*1319A>C) c.1872A>C (n.1872A>C) c.1492A>C (p.Ser498Arg) c.1540A>C (p.Ser514Arg) c.1636A>C (p.Ser546Arg) c.1582A>C (p.Ser528Arg) c.1543A>C (p.Ser515Arg) | |
18 | g.33739064A>G | CA402176063 | ASXL3 | c.1663A>G (p.Ser555Gly) c.1660A>G (p.Ser554Gly) c.*784A>G (n.*784A>G) c.*1319A>G (n.*1319A>G) c.1872A>G (n.1872A>G) c.1492A>G (p.Ser498Gly) c.1540A>G (p.Ser514Gly) c.1636A>G (p.Ser546Gly) c.1582A>G (p.Ser528Gly) c.1543A>G (p.Ser515Gly) | dbSNP |
18 | g.33739064A>T | CA402176064 | ASXL3 | c.1663A>T (p.Ser555Cys) c.1660A>T (p.Ser554Cys) c.*784A>T (n.*784A>T) c.*1319A>T (n.*1319A>T) c.1872A>T (n.1872A>T) c.1492A>T (p.Ser498Cys) c.1540A>T (p.Ser514Cys) c.1636A>T (p.Ser546Cys) c.1582A>T (p.Ser528Cys) c.1543A>T (p.Ser515Cys) | |
18 | g.33739065G>A | CA8933790 | ASXL3 | c.1664G>A (p.Ser555Asn) c.1661G>A (p.Ser554Asn) c.*785G>A (n.*785G>A) c.*1320G>A (n.*1320G>A) c.1873G>A (n.1873G>A) c.1493G>A (p.Ser498Asn) c.1541G>A (p.Ser514Asn) c.1637G>A (p.Ser546Asn) c.1583G>A (p.Ser528Asn) c.1544G>A (p.Ser515Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739065G>C | CA402176065 | ASXL3 | c.1664G>C (p.Ser555Thr) c.1661G>C (p.Ser554Thr) c.*785G>C (n.*785G>C) c.*1320G>C (n.*1320G>C) c.1873G>C (n.1873G>C) c.1493G>C (p.Ser498Thr) c.1541G>C (p.Ser514Thr) c.1637G>C (p.Ser546Thr) c.1583G>C (p.Ser528Thr) c.1544G>C (p.Ser515Thr) | |
18 | g.33739065G= | CA2294855806 | ASXL3 | c.1664G= (p.Ser555=) c.1661G= (p.Ser554=) c.*785G= (n.*785G=) c.*1320G= (n.*1320G=) c.1873G= (n.1873G=) c.1493G= (p.Ser498=) c.1541G= (p.Ser514=) c.1637G= (p.Ser546=) c.1583G= (p.Ser528=) c.1544G= (p.Ser515=) | |
18 | g.33739065G>T | CA402176066 | ASXL3 | c.1664G>T (p.Ser555Ile) c.1661G>T (p.Ser554Ile) c.*785G>T (n.*785G>T) c.*1320G>T (n.*1320G>T) c.1873G>T (n.1873G>T) c.1493G>T (p.Ser498Ile) c.1541G>T (p.Ser514Ile) c.1637G>T (p.Ser546Ile) c.1583G>T (p.Ser528Ile) c.1544G>T (p.Ser515Ile) | |
18 | g.33739066T>A | CA402176067 | ASXL3 | c.1665T>A (p.Ser555Arg) c.1662T>A (p.Ser554Arg) c.*786T>A (n.*786T>A) c.*1321T>A (n.*1321T>A) c.1874T>A (n.1874T>A) c.1494T>A (p.Ser498Arg) c.1542T>A (p.Ser514Arg) c.1638T>A (p.Ser546Arg) c.1584T>A (p.Ser528Arg) c.1545T>A (p.Ser515Arg) | dbSNP |
18 | g.33739066T>C | CA503768812 | ASXL3 | c.1665T>C (p.Ser555=) c.1662T>C (p.Ser554=) c.*786T>C (n.*786T>C) c.*1321T>C (n.*1321T>C) c.1874T>C (n.1874T>C) c.1494T>C (p.Ser498=) c.1542T>C (p.Ser514=) c.1638T>C (p.Ser546=) c.1584T>C (p.Ser528=) c.1545T>C (p.Ser515=) | |
18 | g.33739066T>G | CA402176068 | ASXL3 | c.1665T>G (p.Ser555Arg) c.1662T>G (p.Ser554Arg) c.*786T>G (n.*786T>G) c.*1321T>G (n.*1321T>G) c.1874T>G (n.1874T>G) c.1494T>G (p.Ser498Arg) c.1542T>G (p.Ser514Arg) c.1638T>G (p.Ser546Arg) c.1584T>G (p.Ser528Arg) c.1545T>G (p.Ser515Arg) | |
18 | g.33739067G>A | CA402176069 | ASXL3 | c.1666G>A (p.Asp556Asn) c.1663G>A (p.Asp555Asn) c.*787G>A (n.*787G>A) c.*1322G>A (n.*1322G>A) c.1875G>A (n.1875G>A) c.1495G>A (p.Asp499Asn) c.1543G>A (p.Asp515Asn) c.1639G>A (p.Asp547Asn) c.1585G>A (p.Asp529Asn) c.1546G>A (p.Asp516Asn) | |
18 | g.33739067G>C | CA402176070 | ASXL3 | c.1666G>C (p.Asp556His) c.1663G>C (p.Asp555His) c.*787G>C (n.*787G>C) c.*1322G>C (n.*1322G>C) c.1875G>C (n.1875G>C) c.1495G>C (p.Asp499His) c.1543G>C (p.Asp515His) c.1639G>C (p.Asp547His) c.1585G>C (p.Asp529His) c.1546G>C (p.Asp516His) | |
18 | g.33739067G>T | CA402176071 | ASXL3 | c.1666G>T (p.Asp556Tyr) c.1663G>T (p.Asp555Tyr) c.*787G>T (n.*787G>T) c.*1322G>T (n.*1322G>T) c.1875G>T (n.1875G>T) c.1495G>T (p.Asp499Tyr) c.1543G>T (p.Asp515Tyr) c.1639G>T (p.Asp547Tyr) c.1585G>T (p.Asp529Tyr) c.1546G>T (p.Asp516Tyr) | COSMIC COSMIC |
18 | g.33739068A>C | CA402176074 | ASXL3 | c.1667A>C (p.Asp556Ala) c.1664A>C (p.Asp555Ala) c.*788A>C (n.*788A>C) c.*1323A>C (n.*1323A>C) c.1876A>C (n.1876A>C) c.1496A>C (p.Asp499Ala) c.1544A>C (p.Asp515Ala) c.1640A>C (p.Asp547Ala) c.1586A>C (p.Asp529Ala) c.1547A>C (p.Asp516Ala) | |
18 | g.33739068A>G | CA402176073 | ASXL3 | c.1667A>G (p.Asp556Gly) c.1664A>G (p.Asp555Gly) c.*788A>G (n.*788A>G) c.*1323A>G (n.*1323A>G) c.1876A>G (n.1876A>G) c.1496A>G (p.Asp499Gly) c.1544A>G (p.Asp515Gly) c.1640A>G (p.Asp547Gly) c.1586A>G (p.Asp529Gly) c.1547A>G (p.Asp516Gly) | |
18 | g.33739068A>T | CA402176072 | ASXL3 | c.1667A>T (p.Asp556Val) c.1664A>T (p.Asp555Val) c.*788A>T (n.*788A>T) c.*1323A>T (n.*1323A>T) c.1876A>T (n.1876A>T) c.1496A>T (p.Asp499Val) c.1544A>T (p.Asp515Val) c.1640A>T (p.Asp547Val) c.1586A>T (p.Asp529Val) c.1547A>T (p.Asp516Val) | |
18 | g.33739071_33739072del | CA2580612975 | ASXL3 | c.1670_1671del (p.Thr557ArgfsTer3) c.1667_1668del (p.Thr556ArgfsTer3) c.*791_*792del (n.*791_*792del) c.*1326_*1327del (n.*1326_*1327del) c.1879_1880del (n.1879_1880del) c.1499_1500del (p.Thr500ArgfsTer3) c.1547_1548del (p.Thr516ArgfsTer3) c.1643_1644del (p.Thr548ArgfsTer3) c.1589_1590del (p.Thr530ArgfsTer3) c.1550_1551del (p.Thr517ArgfsTer3) | ClinVar dbSNP |
18 | g.33739069C>A | CA402176075 | ASXL3 | c.1668C>A (p.Asp556Glu) c.1665C>A (p.Asp555Glu) c.*789C>A (n.*789C>A) c.*1324C>A (n.*1324C>A) c.1877C>A (n.1877C>A) c.1497C>A (p.Asp499Glu) c.1545C>A (p.Asp515Glu) c.1641C>A (p.Asp547Glu) c.1587C>A (p.Asp529Glu) c.1548C>A (p.Asp516Glu) | |
18 | g.33739069C= | CA2294855807 | ASXL3 | c.1668C= (p.Asp556=) c.1665C= (p.Asp555=) c.*789C= (n.*789C=) c.*1324C= (n.*1324C=) c.1877C= (n.1877C=) c.1497C= (p.Asp499=) c.1545C= (p.Asp515=) c.1641C= (p.Asp547=) c.1587C= (p.Asp529=) c.1548C= (p.Asp516=) | |
18 | g.33739069C>G | CA402176076 | ASXL3 | c.1668C>G (p.Asp556Glu) c.1665C>G (p.Asp555Glu) c.*789C>G (n.*789C>G) c.*1324C>G (n.*1324C>G) c.1877C>G (n.1877C>G) c.1497C>G (p.Asp499Glu) c.1545C>G (p.Asp515Glu) c.1641C>G (p.Asp547Glu) c.1587C>G (p.Asp529Glu) c.1548C>G (p.Asp516Glu) | |
18 | g.33739069C>T | CA503768818 | ASXL3 | c.1668C>T (p.Asp556=) c.1665C>T (p.Asp555=) c.*789C>T (n.*789C>T) c.*1324C>T (n.*1324C>T) c.1877C>T (n.1877C>T) c.1497C>T (p.Asp499=) c.1545C>T (p.Asp515=) c.1641C>T (p.Asp547=) c.1587C>T (p.Asp529=) c.1548C>T (p.Asp516=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739070A>C | CA402176077 | ASXL3 | c.1669A>C (p.Thr557Pro) c.1666A>C (p.Thr556Pro) c.*790A>C (n.*790A>C) c.*1325A>C (n.*1325A>C) c.1878A>C (n.1878A>C) c.1498A>C (p.Thr500Pro) c.1546A>C (p.Thr516Pro) c.1642A>C (p.Thr548Pro) c.1588A>C (p.Thr530Pro) c.1549A>C (p.Thr517Pro) | |
18 | g.33739070A>G | CA402176078 | ASXL3 | c.1669A>G (p.Thr557Ala) c.1666A>G (p.Thr556Ala) c.*790A>G (n.*790A>G) c.*1325A>G (n.*1325A>G) c.1878A>G (n.1878A>G) c.1498A>G (p.Thr500Ala) c.1546A>G (p.Thr516Ala) c.1642A>G (p.Thr548Ala) c.1588A>G (p.Thr530Ala) c.1549A>G (p.Thr517Ala) | |
18 | g.33739070A>T | CA402176079 | ASXL3 | c.1669A>T (p.Thr557Ser) c.1666A>T (p.Thr556Ser) c.*790A>T (n.*790A>T) c.*1325A>T (n.*1325A>T) c.1878A>T (n.1878A>T) c.1498A>T (p.Thr500Ser) c.1546A>T (p.Thr516Ser) c.1642A>T (p.Thr548Ser) c.1588A>T (p.Thr530Ser) c.1549A>T (p.Thr517Ser) | |
18 | g.33739070_33739085delinsACAGAACATAAGGAGT | CA2294855808 | ASXL3 | c.1669_1684delinsACAGAACATAAGGAGT (p.Thr557=) c.1666_1681delinsACAGAACATAAGGAGT (p.Thr556=) c.*790_*805delinsACAGAACATAAGGAGT (n.*790_*805delinsACAGAACATAAGGAGT) c.*1325_*1340delinsACAGAACATAAGGAGT (n.*1325_*1340delinsACAGAACATAAGGAGT) c.1878_1893delinsACAGAACATAAGGAGT (n.1878_1893delinsACAGAACATAAGGAGT) c.1498_1513delinsACAGAACATAAGGAGT (p.Thr500=) c.1546_1561delinsACAGAACATAAGGAGT (p.Thr516=) c.1642_1657delinsACAGAACATAAGGAGT (p.Thr548=) c.1588_1603delinsACAGAACATAAGGAGT (p.Thr530=) c.1549_1564delinsACAGAACATAAGGAGT (p.Thr517=) | |
18 | g.33739071C>A | CA402176080 | ASXL3 | c.1670C>A (p.Thr557Lys) c.1667C>A (p.Thr556Lys) c.*791C>A (n.*791C>A) c.*1326C>A (n.*1326C>A) c.1879C>A (n.1879C>A) c.1499C>A (p.Thr500Lys) c.1547C>A (p.Thr516Lys) c.1643C>A (p.Thr548Lys) c.1589C>A (p.Thr530Lys) c.1550C>A (p.Thr517Lys) | |
18 | g.33739071C= | CA2294855809 | ASXL3 | c.1670C= (p.Thr557=) c.1667C= (p.Thr556=) c.*791C= (n.*791C=) c.*1326C= (n.*1326C=) c.1879C= (n.1879C=) c.1499C= (p.Thr500=) c.1547C= (p.Thr516=) c.1643C= (p.Thr548=) c.1589C= (p.Thr530=) c.1550C= (p.Thr517=) | |
18 | g.33739071C>G | CA402176081 | ASXL3 | c.1670C>G (p.Thr557Arg) c.1667C>G (p.Thr556Arg) c.*791C>G (n.*791C>G) c.*1326C>G (n.*1326C>G) c.1879C>G (n.1879C>G) c.1499C>G (p.Thr500Arg) c.1547C>G (p.Thr516Arg) c.1643C>G (p.Thr548Arg) c.1589C>G (p.Thr530Arg) c.1550C>G (p.Thr517Arg) | |
18 | g.33739071C>T | CA402176082 | ASXL3 | c.1670C>T (p.Thr557Ile) c.1667C>T (p.Thr556Ile) c.*791C>T (n.*791C>T) c.*1326C>T (n.*1326C>T) c.1879C>T (n.1879C>T) c.1499C>T (p.Thr500Ile) c.1547C>T (p.Thr516Ile) c.1643C>T (p.Thr548Ile) c.1589C>T (p.Thr530Ile) c.1550C>T (p.Thr517Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.33739076_33739090del | CA8933791 | ASXL3 | c.1675_1689del (p.His559_Glu563del) c.1672_1686del (p.His558_Glu562del) c.*796_*810del (n.*796_*810del) c.*1331_*1345del (n.*1331_*1345del) c.1884_1898del (n.1884_1898del) c.1504_1518del (p.His502_Glu506del) c.1552_1566del (p.His518_Glu522del) c.1648_1662del (p.His550_Glu554del) c.1594_1608del (p.His532_Glu536del) c.1555_1569del (p.His519_Glu523del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739072A= | CA2294855810 | ASXL3 | c.1671A= (p.Thr557=) c.1668A= (p.Thr556=) c.*792A= (n.*792A=) c.*1327A= (n.*1327A=) c.1880A= (n.1880A=) c.1500A= (p.Thr500=) c.1548A= (p.Thr516=) c.1644A= (p.Thr548=) c.1590A= (p.Thr530=) c.1551A= (p.Thr517=) | |
18 | g.33739072A>C | CA503768822 | ASXL3 | c.1671A>C (p.Thr557=) c.1668A>C (p.Thr556=) c.*792A>C (n.*792A>C) c.*1327A>C (n.*1327A>C) c.1880A>C (n.1880A>C) c.1500A>C (p.Thr500=) c.1548A>C (p.Thr516=) c.1644A>C (p.Thr548=) c.1590A>C (p.Thr530=) c.1551A>C (p.Thr517=) | |
18 | g.33739072A>G | CA503768824 | ASXL3 | c.1671A>G (p.Thr557=) c.1668A>G (p.Thr556=) c.*792A>G (n.*792A>G) c.*1327A>G (n.*1327A>G) c.1880A>G (n.1880A>G) c.1500A>G (p.Thr500=) c.1548A>G (p.Thr516=) c.1644A>G (p.Thr548=) c.1590A>G (p.Thr530=) c.1551A>G (p.Thr517=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739072A>T | CA503768826 | ASXL3 | c.1671A>T (p.Thr557=) c.1668A>T (p.Thr556=) c.*792A>T (n.*792A>T) c.*1327A>T (n.*1327A>T) c.1880A>T (n.1880A>T) c.1500A>T (p.Thr500=) c.1548A>T (p.Thr516=) c.1644A>T (p.Thr548=) c.1590A>T (p.Thr530=) c.1551A>T (p.Thr517=) | |
18 | g.33739073G>A | CA402176083 | ASXL3 | c.1672G>A (p.Glu558Lys) c.1669G>A (p.Glu557Lys) c.*793G>A (n.*793G>A) c.*1328G>A (n.*1328G>A) c.1881G>A (n.1881G>A) c.1501G>A (p.Glu501Lys) c.1549G>A (p.Glu517Lys) c.1645G>A (p.Glu549Lys) c.1591G>A (p.Glu531Lys) c.1552G>A (p.Glu518Lys) | |
18 | g.33739073G>C | CA402176084 | ASXL3 | c.1672G>C (p.Glu558Gln) c.1669G>C (p.Glu557Gln) c.*793G>C (n.*793G>C) c.*1328G>C (n.*1328G>C) c.1881G>C (n.1881G>C) c.1501G>C (p.Glu501Gln) c.1549G>C (p.Glu517Gln) c.1645G>C (p.Glu549Gln) c.1591G>C (p.Glu531Gln) c.1552G>C (p.Glu518Gln) | |
18 | g.33739073G= | CA2294855811 | ASXL3 | c.1672G= (p.Glu558=) c.1669G= (p.Glu557=) c.*793G= (n.*793G=) c.*1328G= (n.*1328G=) c.1881G= (n.1881G=) c.1501G= (p.Glu501=) c.1549G= (p.Glu517=) c.1645G= (p.Glu549=) c.1591G= (p.Glu531=) c.1552G= (p.Glu518=) | |
18 | g.33739073G>T | CA402176085 | ASXL3 | c.1672G>T (p.Glu558Ter) c.1669G>T (p.Glu557Ter) c.*793G>T (n.*793G>T) c.*1328G>T (n.*1328G>T) c.1881G>T (n.1881G>T) c.1501G>T (p.Glu501Ter) c.1549G>T (p.Glu517Ter) c.1645G>T (p.Glu549Ter) c.1591G>T (p.Glu531Ter) c.1552G>T (p.Glu518Ter) | ClinVar dbSNP |
18 | g.33739074A>C | CA402176087 | ASXL3 | c.1673A>C (p.Glu558Ala) c.1670A>C (p.Glu557Ala) c.*794A>C (n.*794A>C) c.*1329A>C (n.*1329A>C) c.1882A>C (n.1882A>C) c.1502A>C (p.Glu501Ala) c.1550A>C (p.Glu517Ala) c.1646A>C (p.Glu549Ala) c.1592A>C (p.Glu531Ala) c.1553A>C (p.Glu518Ala) | gnomAD v4 |
18 | g.33739074A>G | CA402176088 | ASXL3 | c.1673A>G (p.Glu558Gly) c.1670A>G (p.Glu557Gly) c.*794A>G (n.*794A>G) c.*1329A>G (n.*1329A>G) c.1882A>G (n.1882A>G) c.1502A>G (p.Glu501Gly) c.1550A>G (p.Glu517Gly) c.1646A>G (p.Glu549Gly) c.1592A>G (p.Glu531Gly) c.1553A>G (p.Glu518Gly) | |
18 | g.33739074A>T | CA402176086 | ASXL3 | c.1673A>T (p.Glu558Val) c.1670A>T (p.Glu557Val) c.*794A>T (n.*794A>T) c.*1329A>T (n.*1329A>T) c.1882A>T (n.1882A>T) c.1502A>T (p.Glu501Val) c.1550A>T (p.Glu517Val) c.1646A>T (p.Glu549Val) c.1592A>T (p.Glu531Val) c.1553A>T (p.Glu518Val) | |
18 | g.33739075A= | CA2294855812 | ASXL3 | c.1674A= (p.Glu558=) c.1671A= (p.Glu557=) c.*795A= (n.*795A=) c.*1330A= (n.*1330A=) c.1883A= (n.1883A=) c.1503A= (p.Glu501=) c.1551A= (p.Glu517=) c.1647A= (p.Glu549=) c.1593A= (p.Glu531=) c.1554A= (p.Glu518=) | |
18 | g.33739075A>C | CA402176089 | ASXL3 | c.1674A>C (p.Glu558Asp) c.1671A>C (p.Glu557Asp) c.*795A>C (n.*795A>C) c.*1330A>C (n.*1330A>C) c.1883A>C (n.1883A>C) c.1503A>C (p.Glu501Asp) c.1551A>C (p.Glu517Asp) c.1647A>C (p.Glu549Asp) c.1593A>C (p.Glu531Asp) c.1554A>C (p.Glu518Asp) | |
18 | g.33739075A>G | CA297786888 | ASXL3 | c.1674A>G (p.Glu558=) c.1671A>G (p.Glu557=) c.*795A>G (n.*795A>G) c.*1330A>G (n.*1330A>G) c.1883A>G (n.1883A>G) c.1503A>G (p.Glu501=) c.1551A>G (p.Glu517=) c.1647A>G (p.Glu549=) c.1593A>G (p.Glu531=) c.1554A>G (p.Glu518=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739075A>T | CA402176090 | ASXL3 | c.1674A>T (p.Glu558Asp) c.1671A>T (p.Glu557Asp) c.*795A>T (n.*795A>T) c.*1330A>T (n.*1330A>T) c.1883A>T (n.1883A>T) c.1503A>T (p.Glu501Asp) c.1551A>T (p.Glu517Asp) c.1647A>T (p.Glu549Asp) c.1593A>T (p.Glu531Asp) c.1554A>T (p.Glu518Asp) | |
18 | g.33739076C>A | CA402176091 | ASXL3 | c.1675C>A (p.His559Asn) c.1672C>A (p.His558Asn) c.*796C>A (n.*796C>A) c.*1331C>A (n.*1331C>A) c.1884C>A (n.1884C>A) c.1504C>A (p.His502Asn) c.1552C>A (p.His518Asn) c.1648C>A (p.His550Asn) c.1594C>A (p.His532Asn) c.1555C>A (p.His519Asn) | |
18 | g.33739076C>G | CA402176092 | ASXL3 | c.1675C>G (p.His559Asp) c.1672C>G (p.His558Asp) c.*796C>G (n.*796C>G) c.*1331C>G (n.*1331C>G) c.1884C>G (n.1884C>G) c.1504C>G (p.His502Asp) c.1552C>G (p.His518Asp) c.1648C>G (p.His550Asp) c.1594C>G (p.His532Asp) c.1555C>G (p.His519Asp) | |
18 | g.33739076C>T | CA402176093 | ASXL3 | c.1675C>T (p.His559Tyr) c.1672C>T (p.His558Tyr) c.*796C>T (n.*796C>T) c.*1331C>T (n.*1331C>T) c.1884C>T (n.1884C>T) c.1504C>T (p.His502Tyr) c.1552C>T (p.His518Tyr) c.1648C>T (p.His550Tyr) c.1594C>T (p.His532Tyr) c.1555C>T (p.His519Tyr) | gnomAD v4 |
18 | g.33739077A>C | CA402176094 | ASXL3 | c.1676A>C (p.His559Pro) c.1673A>C (p.His558Pro) c.*797A>C (n.*797A>C) c.*1332A>C (n.*1332A>C) c.1885A>C (n.1885A>C) c.1505A>C (p.His502Pro) c.1553A>C (p.His518Pro) c.1649A>C (p.His550Pro) c.1595A>C (p.His532Pro) c.1556A>C (p.His519Pro) | gnomAD v4 |
18 | g.33739077A>G | CA402176095 | ASXL3 | c.1676A>G (p.His559Arg) c.1673A>G (p.His558Arg) c.*797A>G (n.*797A>G) c.*1332A>G (n.*1332A>G) c.1885A>G (n.1885A>G) c.1505A>G (p.His502Arg) c.1553A>G (p.His518Arg) c.1649A>G (p.His550Arg) c.1595A>G (p.His532Arg) c.1556A>G (p.His519Arg) | gnomAD v4 |
18 | g.33739077A>T | CA402176096 | ASXL3 | c.1676A>T (p.His559Leu) c.1673A>T (p.His558Leu) c.*797A>T (n.*797A>T) c.*1332A>T (n.*1332A>T) c.1885A>T (n.1885A>T) c.1505A>T (p.His502Leu) c.1553A>T (p.His518Leu) c.1649A>T (p.His550Leu) c.1595A>T (p.His532Leu) c.1556A>T (p.His519Leu) | |
18 | g.33739078T>A | CA402176097 | ASXL3 | c.1677T>A (p.His559Gln) c.1674T>A (p.His558Gln) c.*798T>A (n.*798T>A) c.*1333T>A (n.*1333T>A) c.1886T>A (n.1886T>A) c.1506T>A (p.His502Gln) c.1554T>A (p.His518Gln) c.1650T>A (p.His550Gln) c.1596T>A (p.His532Gln) c.1557T>A (p.His519Gln) | |
18 | g.33739078T>C | CA503768837 | ASXL3 | c.1677T>C (p.His559=) c.1674T>C (p.His558=) c.*798T>C (n.*798T>C) c.*1333T>C (n.*1333T>C) c.1886T>C (n.1886T>C) c.1506T>C (p.His502=) c.1554T>C (p.His518=) c.1650T>C (p.His550=) c.1596T>C (p.His532=) c.1557T>C (p.His519=) | |
18 | g.33739078T>G | CA402176098 | ASXL3 | c.1677T>G (p.His559Gln) c.1674T>G (p.His558Gln) c.*798T>G (n.*798T>G) c.*1333T>G (n.*1333T>G) c.1886T>G (n.1886T>G) c.1506T>G (p.His502Gln) c.1554T>G (p.His518Gln) c.1650T>G (p.His550Gln) c.1596T>G (p.His532Gln) c.1557T>G (p.His519Gln) | |
18 | g.33739079A>C | CA402176099 | ASXL3 | c.1678A>C (p.Lys560Gln) c.1675A>C (p.Lys559Gln) c.*799A>C (n.*799A>C) c.*1334A>C (n.*1334A>C) c.1887A>C (n.1887A>C) c.1507A>C (p.Lys503Gln) c.1555A>C (p.Lys519Gln) c.1651A>C (p.Lys551Gln) c.1597A>C (p.Lys533Gln) c.1558A>C (p.Lys520Gln) | |
18 | g.33739079A>G | CA402176100 | ASXL3 | c.1678A>G (p.Lys560Glu) c.1675A>G (p.Lys559Glu) c.*799A>G (n.*799A>G) c.*1334A>G (n.*1334A>G) c.1887A>G (n.1887A>G) c.1507A>G (p.Lys503Glu) c.1555A>G (p.Lys519Glu) c.1651A>G (p.Lys551Glu) c.1597A>G (p.Lys533Glu) c.1558A>G (p.Lys520Glu) | |
18 | g.33739079A>T | CA402176101 | ASXL3 | c.1678A>T (p.Lys560Ter) c.1675A>T (p.Lys559Ter) c.*799A>T (n.*799A>T) c.*1334A>T (n.*1334A>T) c.1887A>T (n.1887A>T) c.1507A>T (p.Lys503Ter) c.1555A>T (p.Lys519Ter) c.1651A>T (p.Lys551Ter) c.1597A>T (p.Lys533Ter) c.1558A>T (p.Lys520Ter) | |
18 | g.33739080A>C | CA402176102 | ASXL3 | c.1679A>C (p.Lys560Thr) c.1676A>C (p.Lys559Thr) c.*800A>C (n.*800A>C) c.*1335A>C (n.*1335A>C) c.1888A>C (n.1888A>C) c.1508A>C (p.Lys503Thr) c.1556A>C (p.Lys519Thr) c.1652A>C (p.Lys551Thr) c.1598A>C (p.Lys533Thr) c.1559A>C (p.Lys520Thr) | |
18 | g.33739080A>G | CA402176103 | ASXL3 | c.1679A>G (p.Lys560Arg) c.1676A>G (p.Lys559Arg) c.*800A>G (n.*800A>G) c.*1335A>G (n.*1335A>G) c.1888A>G (n.1888A>G) c.1508A>G (p.Lys503Arg) c.1556A>G (p.Lys519Arg) c.1652A>G (p.Lys551Arg) c.1598A>G (p.Lys533Arg) c.1559A>G (p.Lys520Arg) | gnomAD v4 |
18 | g.33739080A>T | CA402176104 | ASXL3 | c.1679A>T (p.Lys560Met) c.1676A>T (p.Lys559Met) c.*800A>T (n.*800A>T) c.*1335A>T (n.*1335A>T) c.1888A>T (n.1888A>T) c.1508A>T (p.Lys503Met) c.1556A>T (p.Lys519Met) c.1652A>T (p.Lys551Met) c.1598A>T (p.Lys533Met) c.1559A>T (p.Lys520Met) | |
18 | g.33739081G>A | CA503768840 | ASXL3 | c.1680G>A (p.Lys560=) c.1677G>A (p.Lys559=) c.*801G>A (n.*801G>A) c.*1336G>A (n.*1336G>A) c.1889G>A (n.1889G>A) c.1509G>A (p.Lys503=) c.1557G>A (p.Lys519=) c.1653G>A (p.Lys551=) c.1599G>A (p.Lys533=) c.1560G>A (p.Lys520=) | dbSNP gnomAD v2 |
18 | g.33739081G>C | CA402176105 | ASXL3 | c.1680G>C (p.Lys560Asn) c.1677G>C (p.Lys559Asn) c.*801G>C (n.*801G>C) c.*1336G>C (n.*1336G>C) c.1889G>C (n.1889G>C) c.1509G>C (p.Lys503Asn) c.1557G>C (p.Lys519Asn) c.1653G>C (p.Lys551Asn) c.1599G>C (p.Lys533Asn) c.1560G>C (p.Lys520Asn) | |
18 | g.33739081G= | CA2294855813 | ASXL3 | c.1680G= (p.Lys560=) c.1677G= (p.Lys559=) c.*801G= (n.*801G=) c.*1336G= (n.*1336G=) c.1889G= (n.1889G=) c.1509G= (p.Lys503=) c.1557G= (p.Lys519=) c.1653G= (p.Lys551=) c.1599G= (p.Lys533=) c.1560G= (p.Lys520=) | |
18 | g.33739081G>T | CA402176106 | ASXL3 | c.1680G>T (p.Lys560Asn) c.1677G>T (p.Lys559Asn) c.*801G>T (n.*801G>T) c.*1336G>T (n.*1336G>T) c.1889G>T (n.1889G>T) c.1509G>T (p.Lys503Asn) c.1557G>T (p.Lys519Asn) c.1653G>T (p.Lys551Asn) c.1599G>T (p.Lys533Asn) c.1560G>T (p.Lys520Asn) | |
18 | g.33739082G>A | CA8933792 | ASXL3 | c.1681G>A (p.Glu561Lys) c.1678G>A (p.Glu560Lys) c.*802G>A (n.*802G>A) c.*1337G>A (n.*1337G>A) c.1890G>A (n.1890G>A) c.1510G>A (p.Glu504Lys) c.1558G>A (p.Glu520Lys) c.1654G>A (p.Glu552Lys) c.1600G>A (p.Glu534Lys) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739082G>C | CA402176107 | ASXL3 | c.1681G>C (p.Glu561Gln) c.1678G>C (p.Glu560Gln) c.*802G>C (n.*802G>C) c.*1337G>C (n.*1337G>C) c.1890G>C (n.1890G>C) c.1510G>C (p.Glu504Gln) c.1558G>C (p.Glu520Gln) c.1654G>C (p.Glu552Gln) c.1600G>C (p.Glu534Gln) c.1561G>C (p.Glu521Gln) | |
18 | g.33739082G= | CA2294855814 | ASXL3 | c.1681G= (p.Glu561=) c.1678G= (p.Glu560=) c.*802G= (n.*802G=) c.*1337G= (n.*1337G=) c.1890G= (n.1890G=) c.1510G= (p.Glu504=) c.1558G= (p.Glu520=) c.1654G= (p.Glu552=) c.1600G= (p.Glu534=) c.1561G= (p.Glu521=) | |
18 | g.33739082G>T | CA402176108 | ASXL3 | c.1681G>T (p.Glu561Ter) c.1678G>T (p.Glu560Ter) c.*802G>T (n.*802G>T) c.*1337G>T (n.*1337G>T) c.1890G>T (n.1890G>T) c.1510G>T (p.Glu504Ter) c.1558G>T (p.Glu520Ter) c.1654G>T (p.Glu552Ter) c.1600G>T (p.Glu534Ter) c.1561G>T (p.Glu521Ter) |