Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33736196_33741393delCA1139666016ASXL3c.1085+1781_3042+950del
c.1082+1781_3039+950del
c.*206+1781_*2163+950del
c.*741+1781_*2698+950del
c.1294+1781_3251+950del
c.914+1781_2871+950del
c.962+1781_2919+950del
c.1058+1781_3015+950del
c.1004+1781_2961+950del
c.965+1781_2922+950del
ClinVar
18g.33736199_33741395delCA915951347ASXL3c.1085+1784_3042+952del
c.1082+1784_3039+952del
c.*206+1784_*2163+952del
c.*741+1784_*2698+952del
c.1294+1784_3251+952del
c.914+1784_2871+952del
c.962+1784_2919+952del
c.1058+1784_3015+952del
c.1004+1784_2961+952del
c.965+1784_2922+952del
18g.33739130T>ACA402176204ASXL3c.1729T>A (p.Ser577Thr)
c.1726T>A (p.Ser576Thr)
c.*850T>A (n.*850T>A)
c.*1385T>A (n.*1385T>A)
c.1938T>A (n.1938T>A)
c.1558T>A (p.Ser520Thr)
c.1606T>A (p.Ser536Thr)
c.1702T>A (p.Ser568Thr)
c.1648T>A (p.Ser550Thr)
c.1609T>A (p.Ser537Thr)
18g.33739130T>CCA402176203ASXL3c.1729T>C (p.Ser577Pro)
c.1726T>C (p.Ser576Pro)
c.*850T>C (n.*850T>C)
c.*1385T>C (n.*1385T>C)
c.1938T>C (n.1938T>C)
c.1558T>C (p.Ser520Pro)
c.1606T>C (p.Ser536Pro)
c.1702T>C (p.Ser568Pro)
c.1648T>C (p.Ser550Pro)
c.1609T>C (p.Ser537Pro)
18g.33739130T>GCA8933803ASXL3c.1729T>G (p.Ser577Ala)
c.1726T>G (p.Ser576Ala)
c.*850T>G (n.*850T>G)
c.*1385T>G (n.*1385T>G)
c.1938T>G (n.1938T>G)
c.1558T>G (p.Ser520Ala)
c.1606T>G (p.Ser536Ala)
c.1702T>G (p.Ser568Ala)
c.1648T>G (p.Ser550Ala)
c.1609T>G (p.Ser537Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739130T=CA2294855837ASXL3c.1729T= (p.Ser577=)
c.1726T= (p.Ser576=)
c.*850T= (n.*850T=)
c.*1385T= (n.*1385T=)
c.1938T= (n.1938T=)
c.1558T= (p.Ser520=)
c.1606T= (p.Ser536=)
c.1702T= (p.Ser568=)
c.1648T= (p.Ser550=)
c.1609T= (p.Ser537=)
18g.33739132_33739134delCA2641457188ASXL3c.1731_1733del (p.Ser578del)
c.1728_1730del (p.Ser577del)
c.*852_*854del (n.*852_*854del)
c.*1387_*1389del (n.*1387_*1389del)
c.1940_1942del (n.1940_1942del)
c.1560_1562del (p.Ser521del)
c.1608_1610del (p.Ser537del)
c.1704_1706del (p.Ser569del)
c.1650_1652del (p.Ser551del)
c.1611_1613del (p.Ser538del)
gnomAD v4
18g.33739131C>ACA402176205ASXL3c.1730C>A (p.Ser577Ter)
c.1727C>A (p.Ser576Ter)
c.*851C>A (n.*851C>A)
c.*1386C>A (n.*1386C>A)
c.1939C>A (n.1939C>A)
c.1559C>A (p.Ser520Ter)
c.1607C>A (p.Ser536Ter)
c.1703C>A (p.Ser568Ter)
c.1649C>A (p.Ser550Ter)
c.1610C>A (p.Ser537Ter)
COSMIC COSMIC
18g.33739131C=CA2294855838ASXL3c.1730C= (p.Ser577=)
c.1727C= (p.Ser576=)
c.*851C= (n.*851C=)
c.*1386C= (n.*1386C=)
c.1939C= (n.1939C=)
c.1559C= (p.Ser520=)
c.1607C= (p.Ser536=)
c.1703C= (p.Ser568=)
c.1649C= (p.Ser550=)
c.1610C= (p.Ser537=)
18g.33739131C>GCA402176206ASXL3c.1730C>G (p.Ser577Ter)
c.1727C>G (p.Ser576Ter)
c.*851C>G (n.*851C>G)
c.*1386C>G (n.*1386C>G)
c.1939C>G (n.1939C>G)
c.1559C>G (p.Ser520Ter)
c.1607C>G (p.Ser536Ter)
c.1703C>G (p.Ser568Ter)
c.1649C>G (p.Ser550Ter)
c.1610C>G (p.Ser537Ter)
18g.33739131C>TCA402176207ASXL3c.1730C>T (p.Ser577Leu)
c.1727C>T (p.Ser576Leu)
c.*851C>T (n.*851C>T)
c.*1386C>T (n.*1386C>T)
c.1939C>T (n.1939C>T)
c.1559C>T (p.Ser520Leu)
c.1607C>T (p.Ser536Leu)
c.1703C>T (p.Ser568Leu)
c.1649C>T (p.Ser550Leu)
c.1610C>T (p.Ser537Leu)
dbSNP gnomAD v4 COSMIC COSMIC
18g.33739132A>CCA503768579ASXL3c.1731A>C (p.Ser577=)
c.1728A>C (p.Ser576=)
c.*852A>C (n.*852A>C)
c.*1387A>C (n.*1387A>C)
c.1940A>C (n.1940A>C)
c.1560A>C (p.Ser520=)
c.1608A>C (p.Ser536=)
c.1704A>C (p.Ser568=)
c.1650A>C (p.Ser550=)
c.1611A>C (p.Ser537=)
18g.33739132A>GCA503768580ASXL3c.1731A>G (p.Ser577=)
c.1728A>G (p.Ser576=)
c.*852A>G (n.*852A>G)
c.*1387A>G (n.*1387A>G)
c.1940A>G (n.1940A>G)
c.1560A>G (p.Ser520=)
c.1608A>G (p.Ser536=)
c.1704A>G (p.Ser568=)
c.1650A>G (p.Ser550=)
c.1611A>G (p.Ser537=)
18g.33739132A>TCA503768581ASXL3c.1731A>T (p.Ser577=)
c.1728A>T (p.Ser576=)
c.*852A>T (n.*852A>T)
c.*1387A>T (n.*1387A>T)
c.1940A>T (n.1940A>T)
c.1560A>T (p.Ser520=)
c.1608A>T (p.Ser536=)
c.1704A>T (p.Ser568=)
c.1650A>T (p.Ser550=)
c.1611A>T (p.Ser537=)
18g.33739132_33739135delinsATCTCA2294855839ASXL3c.1731_1734delinsATCT (p.Ser577=)
c.1728_1731delinsATCT (p.Ser576=)
c.*852_*855delinsATCT (n.*852_*855delinsATCT)
c.*1387_*1390delinsATCT (n.*1387_*1390delinsATCT)
c.1940_1943delinsATCT (n.1940_1943delinsATCT)
c.1560_1563delinsATCT (p.Ser520=)
c.1608_1611delinsATCT (p.Ser536=)
c.1704_1707delinsATCT (p.Ser568=)
c.1650_1653delinsATCT (p.Ser550=)
c.1611_1614delinsATCT (p.Ser537=)
18g.33739133T>ACA402176208ASXL3c.1732T>A (p.Ser578Thr)
c.1729T>A (p.Ser577Thr)
c.*853T>A (n.*853T>A)
c.*1388T>A (n.*1388T>A)
c.1941T>A (n.1941T>A)
c.1561T>A (p.Ser521Thr)
c.1609T>A (p.Ser537Thr)
c.1705T>A (p.Ser569Thr)
c.1651T>A (p.Ser551Thr)
c.1612T>A (p.Ser538Thr)
18g.33739133T>CCA402176209ASXL3c.1732T>C (p.Ser578Pro)
c.1729T>C (p.Ser577Pro)
c.*853T>C (n.*853T>C)
c.*1388T>C (n.*1388T>C)
c.1941T>C (n.1941T>C)
c.1561T>C (p.Ser521Pro)
c.1609T>C (p.Ser537Pro)
c.1705T>C (p.Ser569Pro)
c.1651T>C (p.Ser551Pro)
c.1612T>C (p.Ser538Pro)
18g.33739133T>GCA402176210ASXL3c.1732T>G (p.Ser578Ala)
c.1729T>G (p.Ser577Ala)
c.*853T>G (n.*853T>G)
c.*1388T>G (n.*1388T>G)
c.1941T>G (n.1941T>G)
c.1561T>G (p.Ser521Ala)
c.1609T>G (p.Ser537Ala)
c.1705T>G (p.Ser569Ala)
c.1651T>G (p.Ser551Ala)
c.1612T>G (p.Ser538Ala)
18g.33739136_33739138delCA8933804ASXL3c.1735_1737del (p.Ser579del)
c.1732_1734del (p.Ser578del)
c.*856_*858del (n.*856_*858del)
c.*1391_*1393del (n.*1391_*1393del)
c.1944_1946del (n.1944_1946del)
c.1564_1566del (p.Ser522del)
c.1612_1614del (p.Ser538del)
c.1708_1710del (p.Ser570del)
c.1654_1656del (p.Ser552del)
c.1615_1617del (p.Ser539del)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739134C>ACA402176211ASXL3c.1733C>A (p.Ser578Tyr)
c.1730C>A (p.Ser577Tyr)
c.*854C>A (n.*854C>A)
c.*1389C>A (n.*1389C>A)
c.1942C>A (n.1942C>A)
c.1562C>A (p.Ser521Tyr)
c.1610C>A (p.Ser537Tyr)
c.1706C>A (p.Ser569Tyr)
c.1652C>A (p.Ser551Tyr)
c.1613C>A (p.Ser538Tyr)
18g.33739134C=CA2294855840ASXL3c.1733C= (p.Ser578=)
c.1730C= (p.Ser577=)
c.*854C= (n.*854C=)
c.*1389C= (n.*1389C=)
c.1942C= (n.1942C=)
c.1562C= (p.Ser521=)
c.1610C= (p.Ser537=)
c.1706C= (p.Ser569=)
c.1652C= (p.Ser551=)
c.1613C= (p.Ser538=)
18g.33739134C>GCA8933806ASXL3c.1733C>G (p.Ser578Cys)
c.1730C>G (p.Ser577Cys)
c.*854C>G (n.*854C>G)
c.*1389C>G (n.*1389C>G)
c.1942C>G (n.1942C>G)
c.1562C>G (p.Ser521Cys)
c.1610C>G (p.Ser537Cys)
c.1706C>G (p.Ser569Cys)
c.1652C>G (p.Ser551Cys)
c.1613C>G (p.Ser538Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739134C>TCA8933805ASXL3c.1733C>T (p.Ser578Phe)
c.1730C>T (p.Ser577Phe)
c.*854C>T (n.*854C>T)
c.*1389C>T (n.*1389C>T)
c.1942C>T (n.1942C>T)
c.1562C>T (p.Ser521Phe)
c.1610C>T (p.Ser537Phe)
c.1706C>T (p.Ser569Phe)
c.1652C>T (p.Ser551Phe)
c.1613C>T (p.Ser538Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739135T>ACA503768585ASXL3c.1734T>A (p.Ser578=)
c.1731T>A (p.Ser577=)
c.*855T>A (n.*855T>A)
c.*1390T>A (n.*1390T>A)
c.1943T>A (n.1943T>A)
c.1563T>A (p.Ser521=)
c.1611T>A (p.Ser537=)
c.1707T>A (p.Ser569=)
c.1653T>A (p.Ser551=)
c.1614T>A (p.Ser538=)
18g.33739135T>CCA503768586ASXL3c.1734T>C (p.Ser578=)
c.1731T>C (p.Ser577=)
c.*855T>C (n.*855T>C)
c.*1390T>C (n.*1390T>C)
c.1943T>C (n.1943T>C)
c.1563T>C (p.Ser521=)
c.1611T>C (p.Ser537=)
c.1707T>C (p.Ser569=)
c.1653T>C (p.Ser551=)
c.1614T>C (p.Ser538=)
18g.33739135T>GCA503768588ASXL3c.1734T>G (p.Ser578=)
c.1731T>G (p.Ser577=)
c.*855T>G (n.*855T>G)
c.*1390T>G (n.*1390T>G)
c.1943T>G (n.1943T>G)
c.1563T>G (p.Ser521=)
c.1611T>G (p.Ser537=)
c.1707T>G (p.Ser569=)
c.1653T>G (p.Ser551=)
c.1614T>G (p.Ser538=)
18g.33739136T>ACA402176214ASXL3c.1735T>A (p.Ser579Thr)
c.1732T>A (p.Ser578Thr)
c.*856T>A (n.*856T>A)
c.*1391T>A (n.*1391T>A)
c.1944T>A (n.1944T>A)
c.1564T>A (p.Ser522Thr)
c.1612T>A (p.Ser538Thr)
c.1708T>A (p.Ser570Thr)
c.1654T>A (p.Ser552Thr)
c.1615T>A (p.Ser539Thr)
18g.33739136T>CCA402176212ASXL3c.1735T>C (p.Ser579Pro)
c.1732T>C (p.Ser578Pro)
c.*856T>C (n.*856T>C)
c.*1391T>C (n.*1391T>C)
c.1944T>C (n.1944T>C)
c.1564T>C (p.Ser522Pro)
c.1612T>C (p.Ser538Pro)
c.1708T>C (p.Ser570Pro)
c.1654T>C (p.Ser552Pro)
c.1615T>C (p.Ser539Pro)
gnomAD v4
18g.33739136T>GCA402176213ASXL3c.1735T>G (p.Ser579Ala)
c.1732T>G (p.Ser578Ala)
c.*856T>G (n.*856T>G)
c.*1391T>G (n.*1391T>G)
c.1944T>G (n.1944T>G)
c.1564T>G (p.Ser522Ala)
c.1612T>G (p.Ser538Ala)
c.1708T>G (p.Ser570Ala)
c.1654T>G (p.Ser552Ala)
c.1615T>G (p.Ser539Ala)
18g.33739137C>ACA402176215ASXL3c.1736C>A (p.Ser579Tyr)
c.1733C>A (p.Ser578Tyr)
c.*857C>A (n.*857C>A)
c.*1392C>A (n.*1392C>A)
c.1945C>A (n.1945C>A)
c.1565C>A (p.Ser522Tyr)
c.1613C>A (p.Ser538Tyr)
c.1709C>A (p.Ser570Tyr)
c.1655C>A (p.Ser552Tyr)
c.1616C>A (p.Ser539Tyr)
18g.33739137C=CA2294855841ASXL3c.1736C= (p.Ser579=)
c.1733C= (p.Ser578=)
c.*857C= (n.*857C=)
c.*1392C= (n.*1392C=)
c.1945C= (n.1945C=)
c.1565C= (p.Ser522=)
c.1613C= (p.Ser538=)
c.1709C= (p.Ser570=)
c.1655C= (p.Ser552=)
c.1616C= (p.Ser539=)
18g.33739137C>GCA402176216ASXL3c.1736C>G (p.Ser579Cys)
c.1733C>G (p.Ser578Cys)
c.*857C>G (n.*857C>G)
c.*1392C>G (n.*1392C>G)
c.1945C>G (n.1945C>G)
c.1565C>G (p.Ser522Cys)
c.1613C>G (p.Ser538Cys)
c.1709C>G (p.Ser570Cys)
c.1655C>G (p.Ser552Cys)
c.1616C>G (p.Ser539Cys)
18g.33739137C>TCA8933807ASXL3c.1736C>T (p.Ser579Phe)
c.1733C>T (p.Ser578Phe)
c.*857C>T (n.*857C>T)
c.*1392C>T (n.*1392C>T)
c.1945C>T (n.1945C>T)
c.1565C>T (p.Ser522Phe)
c.1613C>T (p.Ser538Phe)
c.1709C>T (p.Ser570Phe)
c.1655C>T (p.Ser552Phe)
c.1616C>T (p.Ser539Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739138T>ACA503768593ASXL3c.1737T>A (p.Ser579=)
c.1734T>A (p.Ser578=)
c.*858T>A (n.*858T>A)
c.*1393T>A (n.*1393T>A)
c.1946T>A (n.1946T>A)
c.1566T>A (p.Ser522=)
c.1614T>A (p.Ser538=)
c.1710T>A (p.Ser570=)
c.1656T>A (p.Ser552=)
c.1617T>A (p.Ser539=)
18g.33739138T>CCA503768594ASXL3c.1737T>C (p.Ser579=)
c.1734T>C (p.Ser578=)
c.*858T>C (n.*858T>C)
c.*1393T>C (n.*1393T>C)
c.1946T>C (n.1946T>C)
c.1566T>C (p.Ser522=)
c.1614T>C (p.Ser538=)
c.1710T>C (p.Ser570=)
c.1656T>C (p.Ser552=)
c.1617T>C (p.Ser539=)
18g.33739138T>GCA503768596ASXL3c.1737T>G (p.Ser579=)
c.1734T>G (p.Ser578=)
c.*858T>G (n.*858T>G)
c.*1393T>G (n.*1393T>G)
c.1946T>G (n.1946T>G)
c.1566T>G (p.Ser522=)
c.1614T>G (p.Ser538=)
c.1710T>G (p.Ser570=)
c.1656T>G (p.Ser552=)
c.1617T>G (p.Ser539=)
18g.33739139C>ACA402176217ASXL3c.1738C>A (p.Leu580Ile)
c.1735C>A (p.Leu579Ile)
c.*859C>A (n.*859C>A)
c.*1394C>A (n.*1394C>A)
c.1947C>A (n.1947C>A)
c.1567C>A (p.Leu523Ile)
c.1615C>A (p.Leu539Ile)
c.1711C>A (p.Leu571Ile)
c.1657C>A (p.Leu553Ile)
c.1618C>A (p.Leu540Ile)
18g.33739139C>GCA402176218ASXL3c.1738C>G (p.Leu580Val)
c.1735C>G (p.Leu579Val)
c.*859C>G (n.*859C>G)
c.*1394C>G (n.*1394C>G)
c.1947C>G (n.1947C>G)
c.1567C>G (p.Leu523Val)
c.1615C>G (p.Leu539Val)
c.1711C>G (p.Leu571Val)
c.1657C>G (p.Leu553Val)
c.1618C>G (p.Leu540Val)
18g.33739139C>TCA503768600ASXL3c.1738C>T (p.Leu580=)
c.1735C>T (p.Leu579=)
c.*859C>T (n.*859C>T)
c.*1394C>T (n.*1394C>T)
c.1947C>T (n.1947C>T)
c.1567C>T (p.Leu523=)
c.1615C>T (p.Leu539=)
c.1711C>T (p.Leu571=)
c.1657C>T (p.Leu553=)
c.1618C>T (p.Leu540=)
18g.33739140T>ACA402176219ASXL3c.1739T>A (p.Leu580Gln)
c.1736T>A (p.Leu579Gln)
c.*860T>A (n.*860T>A)
c.*1395T>A (n.*1395T>A)
c.1948T>A (n.1948T>A)
c.1568T>A (p.Leu523Gln)
c.1616T>A (p.Leu539Gln)
c.1712T>A (p.Leu571Gln)
c.1658T>A (p.Leu553Gln)
c.1619T>A (p.Leu540Gln)
18g.33739140T>CCA402176220ASXL3c.1739T>C (p.Leu580Pro)
c.1736T>C (p.Leu579Pro)
c.*860T>C (n.*860T>C)
c.*1395T>C (n.*1395T>C)
c.1948T>C (n.1948T>C)
c.1568T>C (p.Leu523Pro)
c.1616T>C (p.Leu539Pro)
c.1712T>C (p.Leu571Pro)
c.1658T>C (p.Leu553Pro)
c.1619T>C (p.Leu540Pro)
18g.33739140T>GCA402176221ASXL3c.1739T>G (p.Leu580Arg)
c.1736T>G (p.Leu579Arg)
c.*860T>G (n.*860T>G)
c.*1395T>G (n.*1395T>G)
c.1948T>G (n.1948T>G)
c.1568T>G (p.Leu523Arg)
c.1616T>G (p.Leu539Arg)
c.1712T>G (p.Leu571Arg)
c.1658T>G (p.Leu553Arg)
c.1619T>G (p.Leu540Arg)
18g.33739141A>CCA503768601ASXL3c.1740A>C (p.Leu580=)
c.1737A>C (p.Leu579=)
c.*861A>C (n.*861A>C)
c.*1396A>C (n.*1396A>C)
c.1949A>C (n.1949A>C)
c.1569A>C (p.Leu523=)
c.1617A>C (p.Leu539=)
c.1713A>C (p.Leu571=)
c.1659A>C (p.Leu553=)
c.1620A>C (p.Leu540=)
18g.33739141A>GCA503768602ASXL3c.1740A>G (p.Leu580=)
c.1737A>G (p.Leu579=)
c.*861A>G (n.*861A>G)
c.*1396A>G (n.*1396A>G)
c.1949A>G (n.1949A>G)
c.1569A>G (p.Leu523=)
c.1617A>G (p.Leu539=)
c.1713A>G (p.Leu571=)
c.1659A>G (p.Leu553=)
c.1620A>G (p.Leu540=)
18g.33739141A>TCA503768603ASXL3c.1740A>T (p.Leu580=)
c.1737A>T (p.Leu579=)
c.*861A>T (n.*861A>T)
c.*1396A>T (n.*1396A>T)
c.1949A>T (n.1949A>T)
c.1569A>T (p.Leu523=)
c.1617A>T (p.Leu539=)
c.1713A>T (p.Leu571=)
c.1659A>T (p.Leu553=)
c.1620A>T (p.Leu540=)
18g.33739142G>ACA402176222ASXL3c.1741G>A (p.Glu581Lys)
c.1738G>A (p.Glu580Lys)
c.*862G>A (n.*862G>A)
c.*1397G>A (n.*1397G>A)
c.1950G>A (n.1950G>A)
c.1570G>A (p.Glu524Lys)
c.1618G>A (p.Glu540Lys)
c.1714G>A (p.Glu572Lys)
c.1660G>A (p.Glu554Lys)
c.1621G>A (p.Glu541Lys)
18g.33739142G>CCA402176223ASXL3c.1741G>C (p.Glu581Gln)
c.1738G>C (p.Glu580Gln)
c.*862G>C (n.*862G>C)
c.*1397G>C (n.*1397G>C)
c.1950G>C (n.1950G>C)
c.1570G>C (p.Glu524Gln)
c.1618G>C (p.Glu540Gln)
c.1714G>C (p.Glu572Gln)
c.1660G>C (p.Glu554Gln)
c.1621G>C (p.Glu541Gln)
gnomAD v4
18g.33739142G=CA2294855842ASXL3c.1741G= (p.Glu581=)
c.1738G= (p.Glu580=)
c.*862G= (n.*862G=)
c.*1397G= (n.*1397G=)
c.1950G= (n.1950G=)
c.1570G= (p.Glu524=)
c.1618G= (p.Glu540=)
c.1714G= (p.Glu572=)
c.1660G= (p.Glu554=)
c.1621G= (p.Glu541=)
18g.33739142G>TCA402176224ASXL3c.1741G>T (p.Glu581Ter)
c.1738G>T (p.Glu580Ter)
c.*862G>T (n.*862G>T)
c.*1397G>T (n.*1397G>T)
c.1950G>T (n.1950G>T)
c.1570G>T (p.Glu524Ter)
c.1618G>T (p.Glu540Ter)
c.1714G>T (p.Glu572Ter)
c.1660G>T (p.Glu554Ter)
c.1621G>T (p.Glu541Ter)
ClinVar dbSNP
18g.33739143A=CA2294855843ASXL3c.1742A= (p.Glu581=)
c.1739A= (p.Glu580=)
c.*863A= (n.*863A=)
c.*1398A= (n.*1398A=)
c.1951A= (n.1951A=)
c.1571A= (p.Glu524=)
c.1619A= (p.Glu540=)
c.1715A= (p.Glu572=)
c.1661A= (p.Glu554=)
c.1622A= (p.Glu541=)
18g.33739143A>CCA402176226ASXL3c.1742A>C (p.Glu581Ala)
c.1739A>C (p.Glu580Ala)
c.*863A>C (n.*863A>C)
c.*1398A>C (n.*1398A>C)
c.1951A>C (n.1951A>C)
c.1571A>C (p.Glu524Ala)
c.1619A>C (p.Glu540Ala)
c.1715A>C (p.Glu572Ala)
c.1661A>C (p.Glu554Ala)
c.1622A>C (p.Glu541Ala)
18g.33739143A>GCA402176227ASXL3c.1742A>G (p.Glu581Gly)
c.1739A>G (p.Glu580Gly)
c.*863A>G (n.*863A>G)
c.*1398A>G (n.*1398A>G)
c.1951A>G (n.1951A>G)
c.1571A>G (p.Glu524Gly)
c.1619A>G (p.Glu540Gly)
c.1715A>G (p.Glu572Gly)
c.1661A>G (p.Glu554Gly)
c.1622A>G (p.Glu541Gly)
dbSNP gnomAD v2 gnomAD v4
18g.33739143A>TCA402176225ASXL3c.1742A>T (p.Glu581Val)
c.1739A>T (p.Glu580Val)
c.*863A>T (n.*863A>T)
c.*1398A>T (n.*1398A>T)
c.1951A>T (n.1951A>T)
c.1571A>T (p.Glu524Val)
c.1619A>T (p.Glu540Val)
c.1715A>T (p.Glu572Val)
c.1661A>T (p.Glu554Val)
c.1622A>T (p.Glu541Val)
18g.33739144A>CCA402176228ASXL3c.1743A>C (p.Glu581Asp)
c.1740A>C (p.Glu580Asp)
c.*864A>C (n.*864A>C)
c.*1399A>C (n.*1399A>C)
c.1952A>C (n.1952A>C)
c.1572A>C (p.Glu524Asp)
c.1620A>C (p.Glu540Asp)
c.1716A>C (p.Glu572Asp)
c.1662A>C (p.Glu554Asp)
c.1623A>C (p.Glu541Asp)
18g.33739144A>GCA503768607ASXL3c.1743A>G (p.Glu581=)
c.1740A>G (p.Glu580=)
c.*864A>G (n.*864A>G)
c.*1399A>G (n.*1399A>G)
c.1952A>G (n.1952A>G)
c.1572A>G (p.Glu524=)
c.1620A>G (p.Glu540=)
c.1716A>G (p.Glu572=)
c.1662A>G (p.Glu554=)
c.1623A>G (p.Glu541=)
18g.33739144A>TCA402176229ASXL3c.1743A>T (p.Glu581Asp)
c.1740A>T (p.Glu580Asp)
c.*864A>T (n.*864A>T)
c.*1399A>T (n.*1399A>T)
c.1952A>T (n.1952A>T)
c.1572A>T (p.Glu524Asp)
c.1620A>T (p.Glu540Asp)
c.1716A>T (p.Glu572Asp)
c.1662A>T (p.Glu554Asp)
c.1623A>T (p.Glu541Asp)
18g.33739145G>ACA402176230ASXL3c.1744G>A (p.Gly582Ser)
c.1741G>A (p.Gly581Ser)
c.*865G>A (n.*865G>A)
c.*1400G>A (n.*1400G>A)
c.1953G>A (n.1953G>A)
c.1573G>A (p.Gly525Ser)
c.1621G>A (p.Gly541Ser)
c.1717G>A (p.Gly573Ser)
c.1663G>A (p.Gly555Ser)
c.1624G>A (p.Gly542Ser)
gnomAD v4 COSMIC COSMIC
18g.33739145G>CCA402176231ASXL3c.1744G>C (p.Gly582Arg)
c.1741G>C (p.Gly581Arg)
c.*865G>C (n.*865G>C)
c.*1400G>C (n.*1400G>C)
c.1953G>C (n.1953G>C)
c.1573G>C (p.Gly525Arg)
c.1621G>C (p.Gly541Arg)
c.1717G>C (p.Gly573Arg)
c.1663G>C (p.Gly555Arg)
c.1624G>C (p.Gly542Arg)
18g.33739145G>TCA402176232ASXL3c.1744G>T (p.Gly582Cys)
c.1741G>T (p.Gly581Cys)
c.*865G>T (n.*865G>T)
c.*1400G>T (n.*1400G>T)
c.1953G>T (n.1953G>T)
c.1573G>T (p.Gly525Cys)
c.1621G>T (p.Gly541Cys)
c.1717G>T (p.Gly573Cys)
c.1663G>T (p.Gly555Cys)
c.1624G>T (p.Gly542Cys)
18g.33739146G>ACA297787002ASXL3c.1745G>A (p.Gly582Asp)
c.1742G>A (p.Gly581Asp)
c.*866G>A (n.*866G>A)
c.*1401G>A (n.*1401G>A)
c.1954G>A (n.1954G>A)
c.1574G>A (p.Gly525Asp)
c.1622G>A (p.Gly541Asp)
c.1718G>A (p.Gly573Asp)
c.1664G>A (p.Gly555Asp)
c.1625G>A (p.Gly542Asp)
dbSNP
18g.33739146G>CCA402176234ASXL3c.1745G>C (p.Gly582Ala)
c.1742G>C (p.Gly581Ala)
c.*866G>C (n.*866G>C)
c.*1401G>C (n.*1401G>C)
c.1954G>C (n.1954G>C)
c.1574G>C (p.Gly525Ala)
c.1622G>C (p.Gly541Ala)
c.1718G>C (p.Gly573Ala)
c.1664G>C (p.Gly555Ala)
c.1625G>C (p.Gly542Ala)
18g.33739146G=CA2294855844ASXL3c.1745G= (p.Gly582=)
c.1742G= (p.Gly581=)
c.*866G= (n.*866G=)
c.*1401G= (n.*1401G=)
c.1954G= (n.1954G=)
c.1574G= (p.Gly525=)
c.1622G= (p.Gly541=)
c.1718G= (p.Gly573=)
c.1664G= (p.Gly555=)
c.1625G= (p.Gly542=)
18g.33739146G>TCA402176233ASXL3c.1745G>T (p.Gly582Val)
c.1742G>T (p.Gly581Val)
c.*866G>T (n.*866G>T)
c.*1401G>T (n.*1401G>T)
c.1954G>T (n.1954G>T)
c.1574G>T (p.Gly525Val)
c.1622G>T (p.Gly541Val)
c.1718G>T (p.Gly573Val)
c.1664G>T (p.Gly555Val)
c.1625G>T (p.Gly542Val)
18g.33739147C>ACA503768611ASXL3c.1746C>A (p.Gly582=)
c.1743C>A (p.Gly581=)
c.*867C>A (n.*867C>A)
c.*1402C>A (n.*1402C>A)
c.1955C>A (n.1955C>A)
c.1575C>A (p.Gly525=)
c.1623C>A (p.Gly541=)
c.1719C>A (p.Gly573=)
c.1665C>A (p.Gly555=)
c.1626C>A (p.Gly542=)
18g.33739147C>GCA503768612ASXL3c.1746C>G (p.Gly582=)
c.1743C>G (p.Gly581=)
c.*867C>G (n.*867C>G)
c.*1402C>G (n.*1402C>G)
c.1955C>G (n.1955C>G)
c.1575C>G (p.Gly525=)
c.1623C>G (p.Gly541=)
c.1719C>G (p.Gly573=)
c.1665C>G (p.Gly555=)
c.1626C>G (p.Gly542=)
18g.33739147C>TCA503768610ASXL3c.1746C>T (p.Gly582=)
c.1743C>T (p.Gly581=)
c.*867C>T (n.*867C>T)
c.*1402C>T (n.*1402C>T)
c.1955C>T (n.1955C>T)
c.1575C>T (p.Gly525=)
c.1623C>T (p.Gly541=)
c.1719C>T (p.Gly573=)
c.1665C>T (p.Gly555=)
c.1626C>T (p.Gly542=)
dbSNP gnomAD v4
18g.33739148C>ACA402176235ASXL3c.1747C>A (p.Gln583Lys)
c.1744C>A (p.Gln582Lys)
c.*868C>A (n.*868C>A)
c.*1403C>A (n.*1403C>A)
c.1956C>A (n.1956C>A)
c.1576C>A (p.Gln526Lys)
c.1624C>A (p.Gln542Lys)
c.1720C>A (p.Gln574Lys)
c.1666C>A (p.Gln556Lys)
c.1627C>A (p.Gln543Lys)
dbSNP
18g.33739148C=CA2294855845ASXL3c.1747C= (p.Gln583=)
c.1744C= (p.Gln582=)
c.*868C= (n.*868C=)
c.*1403C= (n.*1403C=)
c.1956C= (n.1956C=)
c.1576C= (p.Gln526=)
c.1624C= (p.Gln542=)
c.1720C= (p.Gln574=)
c.1666C= (p.Gln556=)
c.1627C= (p.Gln543=)
18g.33739148C>GCA402176236ASXL3c.1747C>G (p.Gln583Glu)
c.1744C>G (p.Gln582Glu)
c.*868C>G (n.*868C>G)
c.*1403C>G (n.*1403C>G)
c.1956C>G (n.1956C>G)
c.1576C>G (p.Gln526Glu)
c.1624C>G (p.Gln542Glu)
c.1720C>G (p.Gln574Glu)
c.1666C>G (p.Gln556Glu)
c.1627C>G (p.Gln543Glu)
gnomAD v4
18g.33739148C>TCA402176237ASXL3c.1747C>T (p.Gln583Ter)
c.1744C>T (p.Gln582Ter)
c.*868C>T (n.*868C>T)
c.*1403C>T (n.*1403C>T)
c.1956C>T (n.1956C>T)
c.1576C>T (p.Gln526Ter)
c.1624C>T (p.Gln542Ter)
c.1720C>T (p.Gln574Ter)
c.1666C>T (p.Gln556Ter)
c.1627C>T (p.Gln543Ter)
ClinVar
18g.33739149A>CCA402176238ASXL3c.1748A>C (p.Gln583Pro)
c.1745A>C (p.Gln582Pro)
c.*869A>C (n.*869A>C)
c.*1404A>C (n.*1404A>C)
c.1957A>C (n.1957A>C)
c.1577A>C (p.Gln526Pro)
c.1625A>C (p.Gln542Pro)
c.1721A>C (p.Gln574Pro)
c.1667A>C (p.Gln556Pro)
c.1628A>C (p.Gln543Pro)
18g.33739149A>GCA402176239ASXL3c.1748A>G (p.Gln583Arg)
c.1745A>G (p.Gln582Arg)
c.*869A>G (n.*869A>G)
c.*1404A>G (n.*1404A>G)
c.1957A>G (n.1957A>G)
c.1577A>G (p.Gln526Arg)
c.1625A>G (p.Gln542Arg)
c.1721A>G (p.Gln574Arg)
c.1667A>G (p.Gln556Arg)
c.1628A>G (p.Gln543Arg)
18g.33739149A>TCA402176240ASXL3c.1748A>T (p.Gln583Leu)
c.1745A>T (p.Gln582Leu)
c.*869A>T (n.*869A>T)
c.*1404A>T (n.*1404A>T)
c.1957A>T (n.1957A>T)
c.1577A>T (p.Gln526Leu)
c.1625A>T (p.Gln542Leu)
c.1721A>T (p.Gln574Leu)
c.1667A>T (p.Gln556Leu)
c.1628A>T (p.Gln543Leu)
18g.33739150G>ACA8933808ASXL3c.1749G>A (p.Gln583=)
c.1746G>A (p.Gln582=)
c.*870G>A (n.*870G>A)
c.*1405G>A (n.*1405G>A)
c.1958G>A (n.1958G>A)
c.1578G>A (p.Gln526=)
c.1626G>A (p.Gln542=)
c.1722G>A (p.Gln574=)
c.1668G>A (p.Gln556=)
c.1629G>A (p.Gln543=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739150G>CCA402176242ASXL3c.1749G>C (p.Gln583His)
c.1746G>C (p.Gln582His)
c.*870G>C (n.*870G>C)
c.*1405G>C (n.*1405G>C)
c.1958G>C (n.1958G>C)
c.1578G>C (p.Gln526His)
c.1626G>C (p.Gln542His)
c.1722G>C (p.Gln574His)
c.1668G>C (p.Gln556His)
c.1629G>C (p.Gln543His)
18g.33739150G=CA2294855846ASXL3c.1749G= (p.Gln583=)
c.1746G= (p.Gln582=)
c.*870G= (n.*870G=)
c.*1405G= (n.*1405G=)
c.1958G= (n.1958G=)
c.1578G= (p.Gln526=)
c.1626G= (p.Gln542=)
c.1722G= (p.Gln574=)
c.1668G= (p.Gln556=)
c.1629G= (p.Gln543=)
18g.33739150G>TCA402176241ASXL3c.1749G>T (p.Gln583His)
c.1746G>T (p.Gln582His)
c.*870G>T (n.*870G>T)
c.*1405G>T (n.*1405G>T)
c.1958G>T (n.1958G>T)
c.1578G>T (p.Gln526His)
c.1626G>T (p.Gln542His)
c.1722G>T (p.Gln574His)
c.1668G>T (p.Gln556His)
c.1629G>T (p.Gln543His)
18g.33739151T>ACA402176243ASXL3c.1750T>A (p.Phe584Ile)
c.1747T>A (p.Phe583Ile)
c.*871T>A (n.*871T>A)
c.*1406T>A (n.*1406T>A)
c.1959T>A (n.1959T>A)
c.1579T>A (p.Phe527Ile)
c.1627T>A (p.Phe543Ile)
c.1723T>A (p.Phe575Ile)
c.1669T>A (p.Phe557Ile)
c.1630T>A (p.Phe544Ile)
gnomAD v4
18g.33739151T>CCA8933809ASXL3c.1750T>C (p.Phe584Leu)
c.1747T>C (p.Phe583Leu)
c.*871T>C (n.*871T>C)
c.*1406T>C (n.*1406T>C)
c.1959T>C (n.1959T>C)
c.1579T>C (p.Phe527Leu)
c.1627T>C (p.Phe543Leu)
c.1723T>C (p.Phe575Leu)
c.1669T>C (p.Phe557Leu)
c.1630T>C (p.Phe544Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739151T>GCA402176244ASXL3c.1750T>G (p.Phe584Val)
c.1747T>G (p.Phe583Val)
c.*871T>G (n.*871T>G)
c.*1406T>G (n.*1406T>G)
c.1959T>G (n.1959T>G)
c.1579T>G (p.Phe527Val)
c.1627T>G (p.Phe543Val)
c.1723T>G (p.Phe575Val)
c.1669T>G (p.Phe557Val)
c.1630T>G (p.Phe544Val)
18g.33739151T=CA2294855847ASXL3c.1750T= (p.Phe584=)
c.1747T= (p.Phe583=)
c.*871T= (n.*871T=)
c.*1406T= (n.*1406T=)
c.1959T= (n.1959T=)
c.1579T= (p.Phe527=)
c.1627T= (p.Phe543=)
c.1723T= (p.Phe575=)
c.1669T= (p.Phe557=)
c.1630T= (p.Phe544=)
18g.33739152T>ACA402176245ASXL3c.1751T>A (p.Phe584Tyr)
c.1748T>A (p.Phe583Tyr)
c.*872T>A (n.*872T>A)
c.*1407T>A (n.*1407T>A)
c.1960T>A (n.1960T>A)
c.1580T>A (p.Phe527Tyr)
c.1628T>A (p.Phe543Tyr)
c.1724T>A (p.Phe575Tyr)
c.1670T>A (p.Phe557Tyr)
c.1631T>A (p.Phe544Tyr)
18g.33739152T>CCA402176246ASXL3c.1751T>C (p.Phe584Ser)
c.1748T>C (p.Phe583Ser)
c.*872T>C (n.*872T>C)
c.*1407T>C (n.*1407T>C)
c.1960T>C (n.1960T>C)
c.1580T>C (p.Phe527Ser)
c.1628T>C (p.Phe543Ser)
c.1724T>C (p.Phe575Ser)
c.1670T>C (p.Phe557Ser)
c.1631T>C (p.Phe544Ser)
18g.33739152T>GCA402176247ASXL3c.1751T>G (p.Phe584Cys)
c.1748T>G (p.Phe583Cys)
c.*872T>G (n.*872T>G)
c.*1407T>G (n.*1407T>G)
c.1960T>G (n.1960T>G)
c.1580T>G (p.Phe527Cys)
c.1628T>G (p.Phe543Cys)
c.1724T>G (p.Phe575Cys)
c.1670T>G (p.Phe557Cys)
c.1631T>G (p.Phe544Cys)
18g.33739153T>ACA402176248ASXL3c.1752T>A (p.Phe584Leu)
c.1749T>A (p.Phe583Leu)
c.*873T>A (n.*873T>A)
c.*1408T>A (n.*1408T>A)
c.1961T>A (n.1961T>A)
c.1581T>A (p.Phe527Leu)
c.1629T>A (p.Phe543Leu)
c.1725T>A (p.Phe575Leu)
c.1671T>A (p.Phe557Leu)
c.1632T>A (p.Phe544Leu)
18g.33739153T>CCA503768622ASXL3c.1752T>C (p.Phe584=)
c.1749T>C (p.Phe583=)
c.*873T>C (n.*873T>C)
c.*1408T>C (n.*1408T>C)
c.1961T>C (n.1961T>C)
c.1581T>C (p.Phe527=)
c.1629T>C (p.Phe543=)
c.1725T>C (p.Phe575=)
c.1671T>C (p.Phe557=)
c.1632T>C (p.Phe544=)
dbSNP gnomAD v4
18g.33739153T>GCA402176249ASXL3c.1752T>G (p.Phe584Leu)
c.1749T>G (p.Phe583Leu)
c.*873T>G (n.*873T>G)
c.*1408T>G (n.*1408T>G)
c.1961T>G (n.1961T>G)
c.1581T>G (p.Phe527Leu)
c.1629T>G (p.Phe543Leu)
c.1725T>G (p.Phe575Leu)
c.1671T>G (p.Phe557Leu)
c.1632T>G (p.Phe544Leu)
18g.33739153T=CA2294855848ASXL3c.1752T= (p.Phe584=)
c.1749T= (p.Phe583=)
c.*873T= (n.*873T=)
c.*1408T= (n.*1408T=)
c.1961T= (n.1961T=)
c.1581T= (p.Phe527=)
c.1629T= (p.Phe543=)
c.1725T= (p.Phe575=)
c.1671T= (p.Phe557=)
c.1632T= (p.Phe544=)
18g.33739154C>ACA402176250ASXL3c.1753C>A (p.Pro585Thr)
c.1750C>A (p.Pro584Thr)
c.*874C>A (n.*874C>A)
c.*1409C>A (n.*1409C>A)
c.1962C>A (n.1962C>A)
c.1582C>A (p.Pro528Thr)
c.1630C>A (p.Pro544Thr)
c.1726C>A (p.Pro576Thr)
c.1672C>A (p.Pro558Thr)
c.1633C>A (p.Pro545Thr)
18g.33739154C>GCA402176251ASXL3c.1753C>G (p.Pro585Ala)
c.1750C>G (p.Pro584Ala)
c.*874C>G (n.*874C>G)
c.*1409C>G (n.*1409C>G)
c.1962C>G (n.1962C>G)
c.1582C>G (p.Pro528Ala)
c.1630C>G (p.Pro544Ala)
c.1726C>G (p.Pro576Ala)
c.1672C>G (p.Pro558Ala)
c.1633C>G (p.Pro545Ala)
18g.33739154C>TCA402176252ASXL3c.1753C>T (p.Pro585Ser)
c.1750C>T (p.Pro584Ser)
c.*874C>T (n.*874C>T)
c.*1409C>T (n.*1409C>T)
c.1962C>T (n.1962C>T)
c.1582C>T (p.Pro528Ser)
c.1630C>T (p.Pro544Ser)
c.1726C>T (p.Pro576Ser)
c.1672C>T (p.Pro558Ser)
c.1633C>T (p.Pro545Ser)
COSMIC COSMIC
18g.33739155C>ACA402176255ASXL3c.1754C>A (p.Pro585Gln)
c.1751C>A (p.Pro584Gln)
c.*875C>A (n.*875C>A)
c.*1410C>A (n.*1410C>A)
c.1963C>A (n.1963C>A)
c.1583C>A (p.Pro528Gln)
c.1631C>A (p.Pro544Gln)
c.1727C>A (p.Pro576Gln)
c.1673C>A (p.Pro558Gln)
c.1634C>A (p.Pro545Gln)
18g.33739155C>GCA402176254ASXL3c.1754C>G (p.Pro585Arg)
c.1751C>G (p.Pro584Arg)
c.*875C>G (n.*875C>G)
c.*1410C>G (n.*1410C>G)
c.1963C>G (n.1963C>G)
c.1583C>G (p.Pro528Arg)
c.1631C>G (p.Pro544Arg)
c.1727C>G (p.Pro576Arg)
c.1673C>G (p.Pro558Arg)
c.1634C>G (p.Pro545Arg)
18g.33739155C>TCA402176253ASXL3c.1754C>T (p.Pro585Leu)
c.1751C>T (p.Pro584Leu)
c.*875C>T (n.*875C>T)
c.*1410C>T (n.*1410C>T)
c.1963C>T (n.1963C>T)
c.1583C>T (p.Pro528Leu)
c.1631C>T (p.Pro544Leu)
c.1727C>T (p.Pro576Leu)
c.1673C>T (p.Pro558Leu)
c.1634C>T (p.Pro545Leu)
18g.33739156A>CCA503768627ASXL3c.1755A>C (p.Pro585=)
c.1752A>C (p.Pro584=)
c.*876A>C (n.*876A>C)
c.*1411A>C (n.*1411A>C)
c.1964A>C (n.1964A>C)
c.1584A>C (p.Pro528=)
c.1632A>C (p.Pro544=)
c.1728A>C (p.Pro576=)
c.1674A>C (p.Pro558=)
c.1635A>C (p.Pro545=)
18g.33739156A>GCA503768629ASXL3c.1755A>G (p.Pro585=)
c.1752A>G (p.Pro584=)
c.*876A>G (n.*876A>G)
c.*1411A>G (n.*1411A>G)
c.1964A>G (n.1964A>G)
c.1584A>G (p.Pro528=)
c.1632A>G (p.Pro544=)
c.1728A>G (p.Pro576=)
c.1674A>G (p.Pro558=)
c.1635A>G (p.Pro545=)
18g.33739156A>TCA503768630ASXL3c.1755A>T (p.Pro585=)
c.1752A>T (p.Pro584=)
c.*876A>T (n.*876A>T)
c.*1411A>T (n.*1411A>T)
c.1964A>T (n.1964A>T)
c.1584A>T (p.Pro528=)
c.1632A>T (p.Pro544=)
c.1728A>T (p.Pro576=)
c.1674A>T (p.Pro558=)
c.1635A>T (p.Pro545=)
18g.33739158delCA2739291099ASXL3c.1757del (p.Asn586MetfsTer6)
c.1754del (p.Asn585MetfsTer6)
c.*878del (n.*878del)
c.*1413del (n.*1413del)
c.1966del (n.1966del)
c.1586del (p.Asn529MetfsTer6)
c.1634del (p.Asn545MetfsTer6)
c.1730del (p.Asn577MetfsTer6)
c.1676del (p.Asn559MetfsTer6)
c.1637del (p.Asn546MetfsTer6)
18g.33739157A=CA2294855849ASXL3c.1756A= (p.Asn586=)
c.1753A= (p.Asn585=)
c.*877A= (n.*877A=)
c.*1412A= (n.*1412A=)
c.1965A= (n.1965A=)
c.1585A= (p.Asn529=)
c.1633A= (p.Asn545=)
c.1729A= (p.Asn577=)
c.1675A= (p.Asn559=)
c.1636A= (p.Asn546=)
18g.33739157A>CCA402176256ASXL3c.1756A>C (p.Asn586His)
c.1753A>C (p.Asn585His)
c.*877A>C (n.*877A>C)
c.*1412A>C (n.*1412A>C)
c.1965A>C (n.1965A>C)
c.1585A>C (p.Asn529His)
c.1633A>C (p.Asn545His)
c.1729A>C (p.Asn577His)
c.1675A>C (p.Asn559His)
c.1636A>C (p.Asn546His)
18g.33739157A>GCA402176257ASXL3c.1756A>G (p.Asn586Asp)
c.1753A>G (p.Asn585Asp)
c.*877A>G (n.*877A>G)
c.*1412A>G (n.*1412A>G)
c.1965A>G (n.1965A>G)
c.1585A>G (p.Asn529Asp)
c.1633A>G (p.Asn545Asp)
c.1729A>G (p.Asn577Asp)
c.1675A>G (p.Asn559Asp)
c.1636A>G (p.Asn546Asp)
dbSNP
18g.33739157A>TCA402176258ASXL3c.1756A>T (p.Asn586Tyr)
c.1753A>T (p.Asn585Tyr)
c.*877A>T (n.*877A>T)
c.*1412A>T (n.*1412A>T)
c.1965A>T (n.1965A>T)
c.1585A>T (p.Asn529Tyr)
c.1633A>T (p.Asn545Tyr)
c.1729A>T (p.Asn577Tyr)
c.1675A>T (p.Asn559Tyr)
c.1636A>T (p.Asn546Tyr)
18g.33739158A=CA2294855850ASXL3c.1757A= (p.Asn586=)
c.1754A= (p.Asn585=)
c.*878A= (n.*878A=)
c.*1413A= (n.*1413A=)
c.1966A= (n.1966A=)
c.1586A= (p.Asn529=)
c.1634A= (p.Asn545=)
c.1730A= (p.Asn577=)
c.1676A= (p.Asn559=)
c.1637A= (p.Asn546=)
18g.33739158A>CCA402176259ASXL3c.1757A>C (p.Asn586Thr)
c.1754A>C (p.Asn585Thr)
c.*878A>C (n.*878A>C)
c.*1413A>C (n.*1413A>C)
c.1966A>C (n.1966A>C)
c.1586A>C (p.Asn529Thr)
c.1634A>C (p.Asn545Thr)
c.1730A>C (p.Asn577Thr)
c.1676A>C (p.Asn559Thr)
c.1637A>C (p.Asn546Thr)
gnomAD v4
18g.33739158A>GCA402176260ASXL3c.1757A>G (p.Asn586Ser)
c.1754A>G (p.Asn585Ser)
c.*878A>G (n.*878A>G)
c.*1413A>G (n.*1413A>G)
c.1966A>G (n.1966A>G)
c.1586A>G (p.Asn529Ser)
c.1634A>G (p.Asn545Ser)
c.1730A>G (p.Asn577Ser)
c.1676A>G (p.Asn559Ser)
c.1637A>G (p.Asn546Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739158A>TCA402176261ASXL3c.1757A>T (p.Asn586Ile)
c.1754A>T (p.Asn585Ile)
c.*878A>T (n.*878A>T)
c.*1413A>T (n.*1413A>T)
c.1966A>T (n.1966A>T)
c.1586A>T (p.Asn529Ile)
c.1634A>T (p.Asn545Ile)
c.1730A>T (p.Asn577Ile)
c.1676A>T (p.Asn559Ile)
c.1637A>T (p.Asn546Ile)
gnomAD v4
18g.33739159T>ACA402176262ASXL3c.1758T>A (p.Asn586Lys)
c.1755T>A (p.Asn585Lys)
c.*879T>A (n.*879T>A)
c.*1414T>A (n.*1414T>A)
c.1967T>A (n.1967T>A)
c.1587T>A (p.Asn529Lys)
c.1635T>A (p.Asn545Lys)
c.1731T>A (p.Asn577Lys)
c.1677T>A (p.Asn559Lys)
c.1638T>A (p.Asn546Lys)
18g.33739159T>CCA503768637ASXL3c.1758T>C (p.Asn586=)
c.1755T>C (p.Asn585=)
c.*879T>C (n.*879T>C)
c.*1414T>C (n.*1414T>C)
c.1967T>C (n.1967T>C)
c.1587T>C (p.Asn529=)
c.1635T>C (p.Asn545=)
c.1731T>C (p.Asn577=)
c.1677T>C (p.Asn559=)
c.1638T>C (p.Asn546=)
dbSNP gnomAD v4
18g.33739159T>GCA402176263ASXL3c.1758T>G (p.Asn586Lys)
c.1755T>G (p.Asn585Lys)
c.*879T>G (n.*879T>G)
c.*1414T>G (n.*1414T>G)
c.1967T>G (n.1967T>G)
c.1587T>G (p.Asn529Lys)
c.1635T>G (p.Asn545Lys)
c.1731T>G (p.Asn577Lys)
c.1677T>G (p.Asn559Lys)
c.1638T>G (p.Asn546Lys)
18g.33739159T=CA2294855851ASXL3c.1758T= (p.Asn586=)
c.1755T= (p.Asn585=)
c.*879T= (n.*879T=)
c.*1414T= (n.*1414T=)
c.1967T= (n.1967T=)
c.1587T= (p.Asn529=)
c.1635T= (p.Asn545=)
c.1731T= (p.Asn577=)
c.1677T= (p.Asn559=)
c.1638T= (p.Asn546=)
18g.33739160G>ACA402176264ASXL3c.1759G>A (p.Glu587Lys)
c.1756G>A (p.Glu586Lys)
c.*880G>A (n.*880G>A)
c.*1415G>A (n.*1415G>A)
c.1968G>A (n.1968G>A)
c.1588G>A (p.Glu530Lys)
c.1636G>A (p.Glu546Lys)
c.1732G>A (p.Glu578Lys)
c.1678G>A (p.Glu560Lys)
c.1639G>A (p.Glu547Lys)
COSMIC COSMIC
18g.33739160G>CCA402176265ASXL3c.1759G>C (p.Glu587Gln)
c.1756G>C (p.Glu586Gln)
c.*880G>C (n.*880G>C)
c.*1415G>C (n.*1415G>C)
c.1968G>C (n.1968G>C)
c.1588G>C (p.Glu530Gln)
c.1636G>C (p.Glu546Gln)
c.1732G>C (p.Glu578Gln)
c.1678G>C (p.Glu560Gln)
c.1639G>C (p.Glu547Gln)
18g.33739160G>TCA402176266ASXL3c.1759G>T (p.Glu587Ter)
c.1756G>T (p.Glu586Ter)
c.*880G>T (n.*880G>T)
c.*1415G>T (n.*1415G>T)
c.1968G>T (n.1968G>T)
c.1588G>T (p.Glu530Ter)
c.1636G>T (p.Glu546Ter)
c.1732G>T (p.Glu578Ter)
c.1678G>T (p.Glu560Ter)
c.1639G>T (p.Glu547Ter)
18g.33739161A>CCA402176267ASXL3c.1760A>C (p.Glu587Ala)
c.1757A>C (p.Glu586Ala)
c.*881A>C (n.*881A>C)
c.*1416A>C (n.*1416A>C)
c.1969A>C (n.1969A>C)
c.1589A>C (p.Glu530Ala)
c.1637A>C (p.Glu546Ala)
c.1733A>C (p.Glu578Ala)
c.1679A>C (p.Glu560Ala)
c.1640A>C (p.Glu547Ala)
18g.33739161A>GCA402176268ASXL3c.1760A>G (p.Glu587Gly)
c.1757A>G (p.Glu586Gly)
c.*881A>G (n.*881A>G)
c.*1416A>G (n.*1416A>G)
c.1969A>G (n.1969A>G)
c.1589A>G (p.Glu530Gly)
c.1637A>G (p.Glu546Gly)
c.1733A>G (p.Glu578Gly)
c.1679A>G (p.Glu560Gly)
c.1640A>G (p.Glu547Gly)
18g.33739161A>TCA402176269ASXL3c.1760A>T (p.Glu587Val)
c.1757A>T (p.Glu586Val)
c.*881A>T (n.*881A>T)
c.*1416A>T (n.*1416A>T)
c.1969A>T (n.1969A>T)
c.1589A>T (p.Glu530Val)
c.1637A>T (p.Glu546Val)
c.1733A>T (p.Glu578Val)
c.1679A>T (p.Glu560Val)
c.1640A>T (p.Glu547Val)
18g.33739162A>CCA402176271ASXL3c.1761A>C (p.Glu587Asp)
c.1758A>C (p.Glu586Asp)
c.*882A>C (n.*882A>C)
c.*1417A>C (n.*1417A>C)
c.1970A>C (n.1970A>C)
c.1590A>C (p.Glu530Asp)
c.1638A>C (p.Glu546Asp)
c.1734A>C (p.Glu578Asp)
c.1680A>C (p.Glu560Asp)
c.1641A>C (p.Glu547Asp)
18g.33739162A>GCA503768642ASXL3c.1761A>G (p.Glu587=)
c.1758A>G (p.Glu586=)
c.*882A>G (n.*882A>G)
c.*1417A>G (n.*1417A>G)
c.1970A>G (n.1970A>G)
c.1590A>G (p.Glu530=)
c.1638A>G (p.Glu546=)
c.1734A>G (p.Glu578=)
c.1680A>G (p.Glu560=)
c.1641A>G (p.Glu547=)
gnomAD v4
18g.33739162A>TCA402176270ASXL3c.1761A>T (p.Glu587Asp)
c.1758A>T (p.Glu586Asp)
c.*882A>T (n.*882A>T)
c.*1417A>T (n.*1417A>T)
c.1970A>T (n.1970A>T)
c.1590A>T (p.Glu530Asp)
c.1638A>T (p.Glu546Asp)
c.1734A>T (p.Glu578Asp)
c.1680A>T (p.Glu560Asp)
c.1641A>T (p.Glu547Asp)
18g.33739163G>ACA402176272ASXL3c.1762G>A (p.Gly588Arg)
c.1759G>A (p.Gly587Arg)
c.*883G>A (n.*883G>A)
c.*1418G>A (n.*1418G>A)
c.1971G>A (n.1971G>A)
c.1591G>A (p.Gly531Arg)
c.1639G>A (p.Gly547Arg)
c.1735G>A (p.Gly579Arg)
c.1681G>A (p.Gly561Arg)
c.1642G>A (p.Gly548Arg)
gnomAD v4
18g.33739163G>CCA402176273ASXL3c.1762G>C (p.Gly588Arg)
c.1759G>C (p.Gly587Arg)
c.*883G>C (n.*883G>C)
c.*1418G>C (n.*1418G>C)
c.1971G>C (n.1971G>C)
c.1591G>C (p.Gly531Arg)
c.1639G>C (p.Gly547Arg)
c.1735G>C (p.Gly579Arg)
c.1681G>C (p.Gly561Arg)
c.1642G>C (p.Gly548Arg)
18g.33739163G>TCA402176274ASXL3c.1762G>T (p.Gly588Ter)
c.1759G>T (p.Gly587Ter)
c.*883G>T (n.*883G>T)
c.*1418G>T (n.*1418G>T)
c.1971G>T (n.1971G>T)
c.1591G>T (p.Gly531Ter)
c.1639G>T (p.Gly547Ter)
c.1735G>T (p.Gly579Ter)
c.1681G>T (p.Gly561Ter)
c.1642G>T (p.Gly548Ter)
COSMIC COSMIC
18g.33739164G>ACA8933810ASXL3c.1763G>A (p.Gly588Glu)
c.1760G>A (p.Gly587Glu)
c.*884G>A (n.*884G>A)
c.*1419G>A (n.*1419G>A)
c.1972G>A (n.1972G>A)
c.1592G>A (p.Gly531Glu)
c.1640G>A (p.Gly547Glu)
c.1736G>A (p.Gly579Glu)
c.1682G>A (p.Gly561Glu)
c.1643G>A (p.Gly548Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739164G>CCA402176275ASXL3c.1763G>C (p.Gly588Ala)
c.1760G>C (p.Gly587Ala)
c.*884G>C (n.*884G>C)
c.*1419G>C (n.*1419G>C)
c.1972G>C (n.1972G>C)
c.1592G>C (p.Gly531Ala)
c.1640G>C (p.Gly547Ala)
c.1736G>C (p.Gly579Ala)
c.1682G>C (p.Gly561Ala)
c.1643G>C (p.Gly548Ala)
18g.33739164G=CA2294855852ASXL3c.1763G= (p.Gly588=)
c.1760G= (p.Gly587=)
c.*884G= (n.*884G=)
c.*1419G= (n.*1419G=)
c.1972G= (n.1972G=)
c.1592G= (p.Gly531=)
c.1640G= (p.Gly547=)
c.1736G= (p.Gly579=)
c.1682G= (p.Gly561=)
c.1643G= (p.Gly548=)
18g.33739164G>TCA402176276ASXL3c.1763G>T (p.Gly588Val)
c.1760G>T (p.Gly587Val)
c.*884G>T (n.*884G>T)
c.*1419G>T (n.*1419G>T)
c.1972G>T (n.1972G>T)
c.1592G>T (p.Gly531Val)
c.1640G>T (p.Gly547Val)
c.1736G>T (p.Gly579Val)
c.1682G>T (p.Gly561Val)
c.1643G>T (p.Gly548Val)
COSMIC COSMIC
18g.33739165A>CCA503768650ASXL3c.1764A>C (p.Gly588=)
c.1761A>C (p.Gly587=)
c.*885A>C (n.*885A>C)
c.*1420A>C (n.*1420A>C)
c.1973A>C (n.1973A>C)
c.1593A>C (p.Gly531=)
c.1641A>C (p.Gly547=)
c.1737A>C (p.Gly579=)
c.1683A>C (p.Gly561=)
c.1644A>C (p.Gly548=)
18g.33739165A>GCA503768646ASXL3c.1764A>G (p.Gly588=)
c.1761A>G (p.Gly587=)
c.*885A>G (n.*885A>G)
c.*1420A>G (n.*1420A>G)
c.1973A>G (n.1973A>G)
c.1593A>G (p.Gly531=)
c.1641A>G (p.Gly547=)
c.1737A>G (p.Gly579=)
c.1683A>G (p.Gly561=)
c.1644A>G (p.Gly548=)
18g.33739165A>TCA503768649ASXL3c.1764A>T (p.Gly588=)
c.1761A>T (p.Gly587=)
c.*885A>T (n.*885A>T)
c.*1420A>T (n.*1420A>T)
c.1973A>T (n.1973A>T)
c.1593A>T (p.Gly531=)
c.1641A>T (p.Gly547=)
c.1737A>T (p.Gly579=)
c.1683A>T (p.Gly561=)
c.1644A>T (p.Gly548=)
18g.33739166A=CA2294855853ASXL3c.1765A= (p.Ile589=)
c.1762A= (p.Ile588=)
c.*886A= (n.*886A=)
c.*1421A= (n.*1421A=)
c.1974A= (n.1974A=)
c.1594A= (p.Ile532=)
c.1642A= (p.Ile548=)
c.1738A= (p.Ile580=)
c.1684A= (p.Ile562=)
c.1645A= (p.Ile549=)
18g.33739166A>CCA402176278ASXL3c.1765A>C (p.Ile589Leu)
c.1762A>C (p.Ile588Leu)
c.*886A>C (n.*886A>C)
c.*1421A>C (n.*1421A>C)
c.1974A>C (n.1974A>C)
c.1594A>C (p.Ile532Leu)
c.1642A>C (p.Ile548Leu)
c.1738A>C (p.Ile580Leu)
c.1684A>C (p.Ile562Leu)
c.1645A>C (p.Ile549Leu)
gnomAD v4
18g.33739166A>GCA8933811ASXL3c.1765A>G (p.Ile589Val)
c.1762A>G (p.Ile588Val)
c.*886A>G (n.*886A>G)
c.*1421A>G (n.*1421A>G)
c.1974A>G (n.1974A>G)
c.1594A>G (p.Ile532Val)
c.1642A>G (p.Ile548Val)
c.1738A>G (p.Ile580Val)
c.1684A>G (p.Ile562Val)
c.1645A>G (p.Ile549Val)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739166A>TCA402176277ASXL3c.1765A>T (p.Ile589Phe)
c.1762A>T (p.Ile588Phe)
c.*886A>T (n.*886A>T)
c.*1421A>T (n.*1421A>T)
c.1974A>T (n.1974A>T)
c.1594A>T (p.Ile532Phe)
c.1642A>T (p.Ile548Phe)
c.1738A>T (p.Ile580Phe)
c.1684A>T (p.Ile562Phe)
c.1645A>T (p.Ile549Phe)
18g.33739167T>ACA402176279ASXL3c.1766T>A (p.Ile589Asn)
c.1763T>A (p.Ile588Asn)
c.*887T>A (n.*887T>A)
c.*1422T>A (n.*1422T>A)
c.1975T>A (n.1975T>A)
c.1595T>A (p.Ile532Asn)
c.1643T>A (p.Ile548Asn)
c.1739T>A (p.Ile580Asn)
c.1685T>A (p.Ile562Asn)
c.1646T>A (p.Ile549Asn)
18g.33739167T>CCA402176280ASXL3c.1766T>C (p.Ile589Thr)
c.1763T>C (p.Ile588Thr)
c.*887T>C (n.*887T>C)
c.*1422T>C (n.*1422T>C)
c.1975T>C (n.1975T>C)
c.1595T>C (p.Ile532Thr)
c.1643T>C (p.Ile548Thr)
c.1739T>C (p.Ile580Thr)
c.1685T>C (p.Ile562Thr)
c.1646T>C (p.Ile549Thr)
dbSNP gnomAD v2 gnomAD v4
18g.33739167T>GCA402176281ASXL3c.1766T>G (p.Ile589Ser)
c.1763T>G (p.Ile588Ser)
c.*887T>G (n.*887T>G)
c.*1422T>G (n.*1422T>G)
c.1975T>G (n.1975T>G)
c.1595T>G (p.Ile532Ser)
c.1643T>G (p.Ile548Ser)
c.1739T>G (p.Ile580Ser)
c.1685T>G (p.Ile562Ser)
c.1646T>G (p.Ile549Ser)
18g.33739167T=CA2294855854ASXL3c.1766T= (p.Ile589=)
c.1763T= (p.Ile588=)
c.*887T= (n.*887T=)
c.*1422T= (n.*1422T=)
c.1975T= (n.1975T=)
c.1595T= (p.Ile532=)
c.1643T= (p.Ile548=)
c.1739T= (p.Ile580=)
c.1685T= (p.Ile562=)
c.1646T= (p.Ile549=)
18g.33739168T>ACA503768666ASXL3c.1767T>A (p.Ile589=)
c.1764T>A (p.Ile588=)
c.*888T>A (n.*888T>A)
c.*1423T>A (n.*1423T>A)
c.1976T>A (n.1976T>A)
c.1596T>A (p.Ile532=)
c.1644T>A (p.Ile548=)
c.1740T>A (p.Ile580=)
c.1686T>A (p.Ile562=)
c.1647T>A (p.Ile549=)
18g.33739168T>CCA297787009ASXL3c.1767T>C (p.Ile589=)
c.1764T>C (p.Ile588=)
c.*888T>C (n.*888T>C)
c.*1423T>C (n.*1423T>C)
c.1976T>C (n.1976T>C)
c.1596T>C (p.Ile532=)
c.1644T>C (p.Ile548=)
c.1740T>C (p.Ile580=)
c.1686T>C (p.Ile562=)
c.1647T>C (p.Ile549=)
dbSNP gnomAD v4
18g.33739168T>GCA402176282ASXL3c.1767T>G (p.Ile589Met)
c.1764T>G (p.Ile588Met)
c.*888T>G (n.*888T>G)
c.*1423T>G (n.*1423T>G)
c.1976T>G (n.1976T>G)
c.1596T>G (p.Ile532Met)
c.1644T>G (p.Ile548Met)
c.1740T>G (p.Ile580Met)
c.1686T>G (p.Ile562Met)
c.1647T>G (p.Ile549Met)
dbSNP gnomAD v3 gnomAD v4
18g.33739168T=CA2294855855ASXL3c.1767T= (p.Ile589=)
c.1764T= (p.Ile588=)
c.*888T= (n.*888T=)
c.*1423T= (n.*1423T=)
c.1976T= (n.1976T=)
c.1596T= (p.Ile532=)
c.1644T= (p.Ile548=)
c.1740T= (p.Ile580=)
c.1686T= (p.Ile562=)
c.1647T= (p.Ile549=)
18g.33739169G>ACA402176283ASXL3c.1768G>A (p.Ala590Thr)
c.1765G>A (p.Ala589Thr)
c.*889G>A (n.*889G>A)
c.*1424G>A (n.*1424G>A)
c.1977G>A (n.1977G>A)
c.1597G>A (p.Ala533Thr)
c.1645G>A (p.Ala549Thr)
c.1741G>A (p.Ala581Thr)
c.1687G>A (p.Ala563Thr)
c.1648G>A (p.Ala550Thr)
18g.33739169G>CCA402176285ASXL3c.1768G>C (p.Ala590Pro)
c.1765G>C (p.Ala589Pro)
c.*889G>C (n.*889G>C)
c.*1424G>C (n.*1424G>C)
c.1977G>C (n.1977G>C)
c.1597G>C (p.Ala533Pro)
c.1645G>C (p.Ala549Pro)
c.1741G>C (p.Ala581Pro)
c.1687G>C (p.Ala563Pro)
c.1648G>C (p.Ala550Pro)
18g.33739169G>TCA402176284ASXL3c.1768G>T (p.Ala590Ser)
c.1765G>T (p.Ala589Ser)
c.*889G>T (n.*889G>T)
c.*1424G>T (n.*1424G>T)
c.1977G>T (n.1977G>T)
c.1597G>T (p.Ala533Ser)
c.1645G>T (p.Ala549Ser)
c.1741G>T (p.Ala581Ser)
c.1687G>T (p.Ala563Ser)
c.1648G>T (p.Ala550Ser)
gnomAD v4
18g.33739170C>ACA402176286ASXL3c.1769C>A (p.Ala590Asp)
c.1766C>A (p.Ala589Asp)
c.*890C>A (n.*890C>A)
c.*1425C>A (n.*1425C>A)
c.1978C>A (n.1978C>A)
c.1598C>A (p.Ala533Asp)
c.1646C>A (p.Ala549Asp)
c.1742C>A (p.Ala581Asp)
c.1688C>A (p.Ala563Asp)
c.1649C>A (p.Ala550Asp)
18g.33739170C>GCA402176287ASXL3c.1769C>G (p.Ala590Gly)
c.1766C>G (p.Ala589Gly)
c.*890C>G (n.*890C>G)
c.*1425C>G (n.*1425C>G)
c.1978C>G (n.1978C>G)
c.1598C>G (p.Ala533Gly)
c.1646C>G (p.Ala549Gly)
c.1742C>G (p.Ala581Gly)
c.1688C>G (p.Ala563Gly)
c.1649C>G (p.Ala550Gly)
gnomAD v4
18g.33739170C>TCA402176288ASXL3c.1769C>T (p.Ala590Val)
c.1766C>T (p.Ala589Val)
c.*890C>T (n.*890C>T)
c.*1425C>T (n.*1425C>T)
c.1978C>T (n.1978C>T)
c.1598C>T (p.Ala533Val)
c.1646C>T (p.Ala549Val)
c.1742C>T (p.Ala581Val)
c.1688C>T (p.Ala563Val)
c.1649C>T (p.Ala550Val)
18g.33739171T>ACA503768676ASXL3c.1770T>A (p.Ala590=)
c.1767T>A (p.Ala589=)
c.*891T>A (n.*891T>A)
c.*1426T>A (n.*1426T>A)
c.1979T>A (n.1979T>A)
c.1599T>A (p.Ala533=)
c.1647T>A (p.Ala549=)
c.1743T>A (p.Ala581=)
c.1689T>A (p.Ala563=)
c.1650T>A (p.Ala550=)
18g.33739171T>CCA503768675ASXL3c.1770T>C (p.Ala590=)
c.1767T>C (p.Ala589=)
c.*891T>C (n.*891T>C)
c.*1426T>C (n.*1426T>C)
c.1979T>C (n.1979T>C)
c.1599T>C (p.Ala533=)
c.1647T>C (p.Ala549=)
c.1743T>C (p.Ala581=)
c.1689T>C (p.Ala563=)
c.1650T>C (p.Ala550=)
18g.33739171T>GCA503768674ASXL3c.1770T>G (p.Ala590=)
c.1767T>G (p.Ala589=)
c.*891T>G (n.*891T>G)
c.*1426T>G (n.*1426T>G)
c.1979T>G (n.1979T>G)
c.1599T>G (p.Ala533=)
c.1647T>G (p.Ala549=)
c.1743T>G (p.Ala581=)
c.1689T>G (p.Ala563=)
c.1650T>G (p.Ala550=)
18g.33739172A=CA2294855856ASXL3c.1771A= (p.Ile591=)
c.1768A= (p.Ile590=)
c.*892A= (n.*892A=)
c.*1427A= (n.*1427A=)
c.1980A= (n.1980A=)
c.1600A= (p.Ile534=)
c.1648A= (p.Ile550=)
c.1744A= (p.Ile582=)
c.1690A= (p.Ile564=)
c.1651A= (p.Ile551=)
18g.33739172A>CCA402176289ASXL3c.1771A>C (p.Ile591Leu)
c.1768A>C (p.Ile590Leu)
c.*892A>C (n.*892A>C)
c.*1427A>C (n.*1427A>C)
c.1980A>C (n.1980A>C)
c.1600A>C (p.Ile534Leu)
c.1648A>C (p.Ile550Leu)
c.1744A>C (p.Ile582Leu)
c.1690A>C (p.Ile564Leu)
c.1651A>C (p.Ile551Leu)
18g.33739172A>GCA402176290ASXL3c.1771A>G (p.Ile591Val)
c.1768A>G (p.Ile590Val)
c.*892A>G (n.*892A>G)
c.*1427A>G (n.*1427A>G)
c.1980A>G (n.1980A>G)
c.1600A>G (p.Ile534Val)
c.1648A>G (p.Ile550Val)
c.1744A>G (p.Ile582Val)
c.1690A>G (p.Ile564Val)
c.1651A>G (p.Ile551Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33739172A>TCA402176291ASXL3c.1771A>T (p.Ile591Leu)
c.1768A>T (p.Ile590Leu)
c.*892A>T (n.*892A>T)
c.*1427A>T (n.*1427A>T)
c.1980A>T (n.1980A>T)
c.1600A>T (p.Ile534Leu)
c.1648A>T (p.Ile550Leu)
c.1744A>T (p.Ile582Leu)
c.1690A>T (p.Ile564Leu)
c.1651A>T (p.Ile551Leu)
18g.33739173T>ACA402176292ASXL3c.1772T>A (p.Ile591Lys)
c.1769T>A (p.Ile590Lys)
c.*893T>A (n.*893T>A)
c.*1428T>A (n.*1428T>A)
c.1981T>A (n.1981T>A)
c.1601T>A (p.Ile534Lys)
c.1649T>A (p.Ile550Lys)
c.1745T>A (p.Ile582Lys)
c.1691T>A (p.Ile564Lys)
c.1652T>A (p.Ile551Lys)
18g.33739173T>CCA8933812ASXL3c.1772T>C (p.Ile591Thr)
c.1769T>C (p.Ile590Thr)
c.*893T>C (n.*893T>C)
c.*1428T>C (n.*1428T>C)
c.1981T>C (n.1981T>C)
c.1601T>C (p.Ile534Thr)
c.1649T>C (p.Ile550Thr)
c.1745T>C (p.Ile582Thr)
c.1691T>C (p.Ile564Thr)
c.1652T>C (p.Ile551Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739173T>GCA402176293ASXL3c.1772T>G (p.Ile591Arg)
c.1769T>G (p.Ile590Arg)
c.*893T>G (n.*893T>G)
c.*1428T>G (n.*1428T>G)
c.1981T>G (n.1981T>G)
c.1601T>G (p.Ile534Arg)
c.1649T>G (p.Ile550Arg)
c.1745T>G (p.Ile582Arg)
c.1691T>G (p.Ile564Arg)
c.1652T>G (p.Ile551Arg)
18g.33739173T=CA2294855857ASXL3c.1772T= (p.Ile591=)
c.1769T= (p.Ile590=)
c.*893T= (n.*893T=)
c.*1428T= (n.*1428T=)
c.1981T= (n.1981T=)
c.1601T= (p.Ile534=)
c.1649T= (p.Ile550=)
c.1745T= (p.Ile582=)
c.1691T= (p.Ile564=)
c.1652T= (p.Ile551=)
18g.33739174A>CCA503768687ASXL3c.1773A>C (p.Ile591=)
c.1770A>C (p.Ile590=)
c.*894A>C (n.*894A>C)
c.*1429A>C (n.*1429A>C)
c.1982A>C (n.1982A>C)
c.1602A>C (p.Ile534=)
c.1650A>C (p.Ile550=)
c.1746A>C (p.Ile582=)
c.1692A>C (p.Ile564=)
c.1653A>C (p.Ile551=)
18g.33739174A>GCA402176294ASXL3c.1773A>G (p.Ile591Met)
c.1770A>G (p.Ile590Met)
c.*894A>G (n.*894A>G)
c.*1429A>G (n.*1429A>G)
c.1982A>G (n.1982A>G)
c.1602A>G (p.Ile534Met)
c.1650A>G (p.Ile550Met)
c.1746A>G (p.Ile582Met)
c.1692A>G (p.Ile564Met)
c.1653A>G (p.Ile551Met)
18g.33739174A>TCA503768686ASXL3c.1773A>T (p.Ile591=)
c.1770A>T (p.Ile590=)
c.*894A>T (n.*894A>T)
c.*1429A>T (n.*1429A>T)
c.1982A>T (n.1982A>T)
c.1602A>T (p.Ile534=)
c.1650A>T (p.Ile550=)
c.1746A>T (p.Ile582=)
c.1692A>T (p.Ile564=)
c.1653A>T (p.Ile551=)
18g.33739175G>ACA402176295ASXL3c.1774G>A (p.Asp592Asn)
c.1771G>A (p.Asp591Asn)
c.*895G>A (n.*895G>A)
c.*1430G>A (n.*1430G>A)
c.1983G>A (n.1983G>A)
c.1603G>A (p.Asp535Asn)
c.1651G>A (p.Asp551Asn)
c.1747G>A (p.Asp583Asn)
c.1693G>A (p.Asp565Asn)
c.1654G>A (p.Asp552Asn)
dbSNP gnomAD v2 gnomAD v4
18g.33739175G>CCA402176296ASXL3c.1774G>C (p.Asp592His)
c.1771G>C (p.Asp591His)
c.*895G>C (n.*895G>C)
c.*1430G>C (n.*1430G>C)
c.1983G>C (n.1983G>C)
c.1603G>C (p.Asp535His)
c.1651G>C (p.Asp551His)
c.1747G>C (p.Asp583His)
c.1693G>C (p.Asp565His)
c.1654G>C (p.Asp552His)
18g.33739175G=CA2294855858ASXL3c.1774G= (p.Asp592=)
c.1771G= (p.Asp591=)
c.*895G= (n.*895G=)
c.*1430G= (n.*1430G=)
c.1983G= (n.1983G=)
c.1603G= (p.Asp535=)
c.1651G= (p.Asp551=)
c.1747G= (p.Asp583=)
c.1693G= (p.Asp565=)
c.1654G= (p.Asp552=)
18g.33739175G>TCA402176297ASXL3c.1774G>T (p.Asp592Tyr)
c.1771G>T (p.Asp591Tyr)
c.*895G>T (n.*895G>T)
c.*1430G>T (n.*1430G>T)
c.1983G>T (n.1983G>T)
c.1603G>T (p.Asp535Tyr)
c.1651G>T (p.Asp551Tyr)
c.1747G>T (p.Asp583Tyr)
c.1693G>T (p.Asp565Tyr)
c.1654G>T (p.Asp552Tyr)
18g.33739176A>CCA402176300ASXL3c.1775A>C (p.Asp592Ala)
c.1772A>C (p.Asp591Ala)
c.*896A>C (n.*896A>C)
c.*1431A>C (n.*1431A>C)
c.1984A>C (n.1984A>C)
c.1604A>C (p.Asp535Ala)
c.1652A>C (p.Asp551Ala)
c.1748A>C (p.Asp583Ala)
c.1694A>C (p.Asp565Ala)
c.1655A>C (p.Asp552Ala)
18g.33739176A>GCA402176298ASXL3c.1775A>G (p.Asp592Gly)
c.1772A>G (p.Asp591Gly)
c.*896A>G (n.*896A>G)
c.*1431A>G (n.*1431A>G)
c.1984A>G (n.1984A>G)
c.1604A>G (p.Asp535Gly)
c.1652A>G (p.Asp551Gly)
c.1748A>G (p.Asp583Gly)
c.1694A>G (p.Asp565Gly)
c.1655A>G (p.Asp552Gly)
18g.33739176A>TCA402176299ASXL3c.1775A>T (p.Asp592Val)
c.1772A>T (p.Asp591Val)
c.*896A>T (n.*896A>T)
c.*1431A>T (n.*1431A>T)
c.1984A>T (n.1984A>T)
c.1604A>T (p.Asp535Val)
c.1652A>T (p.Asp551Val)
c.1748A>T (p.Asp583Val)
c.1694A>T (p.Asp565Val)
c.1655A>T (p.Asp552Val)
18g.33739177T>ACA402176301ASXL3c.1776T>A (p.Asp592Glu)
c.1773T>A (p.Asp591Glu)
c.*897T>A (n.*897T>A)
c.*1432T>A (n.*1432T>A)
c.1985T>A (n.1985T>A)
c.1605T>A (p.Asp535Glu)
c.1653T>A (p.Asp551Glu)
c.1749T>A (p.Asp583Glu)
c.1695T>A (p.Asp565Glu)
c.1656T>A (p.Asp552Glu)
18g.33739177T>CCA503768698ASXL3c.1776T>C (p.Asp592=)
c.1773T>C (p.Asp591=)
c.*897T>C (n.*897T>C)
c.*1432T>C (n.*1432T>C)
c.1985T>C (n.1985T>C)
c.1605T>C (p.Asp535=)
c.1653T>C (p.Asp551=)
c.1749T>C (p.Asp583=)
c.1695T>C (p.Asp565=)
c.1656T>C (p.Asp552=)
18g.33739177T>GCA402176302ASXL3c.1776T>G (p.Asp592Glu)
c.1773T>G (p.Asp591Glu)
c.*897T>G (n.*897T>G)
c.*1432T>G (n.*1432T>G)
c.1985T>G (n.1985T>G)
c.1605T>G (p.Asp535Glu)
c.1653T>G (p.Asp551Glu)
c.1749T>G (p.Asp583Glu)
c.1695T>G (p.Asp565Glu)
c.1656T>G (p.Asp552Glu)
18g.33739178A>CCA402176303ASXL3c.1777A>C (p.Met593Leu)
c.1774A>C (p.Met592Leu)
c.*898A>C (n.*898A>C)
c.*1433A>C (n.*1433A>C)
c.1986A>C (n.1986A>C)
c.1606A>C (p.Met536Leu)
c.1654A>C (p.Met552Leu)
c.1750A>C (p.Met584Leu)
c.1696A>C (p.Met566Leu)
c.1657A>C (p.Met553Leu)
gnomAD v4
18g.33739178A>GCA402176304ASXL3c.1777A>G (p.Met593Val)
c.1774A>G (p.Met592Val)
c.*898A>G (n.*898A>G)
c.*1433A>G (n.*1433A>G)
c.1986A>G (n.1986A>G)
c.1606A>G (p.Met536Val)
c.1654A>G (p.Met552Val)
c.1750A>G (p.Met584Val)
c.1696A>G (p.Met566Val)
c.1657A>G (p.Met553Val)
gnomAD v4
18g.33739178A>TCA402176305ASXL3c.1777A>T (p.Met593Leu)
c.1774A>T (p.Met592Leu)
c.*898A>T (n.*898A>T)
c.*1433A>T (n.*1433A>T)
c.1986A>T (n.1986A>T)
c.1606A>T (p.Met536Leu)
c.1654A>T (p.Met552Leu)
c.1750A>T (p.Met584Leu)
c.1696A>T (p.Met566Leu)
c.1657A>T (p.Met553Leu)
18g.33739179T>ACA402176306ASXL3c.1778T>A (p.Met593Lys)
c.1775T>A (p.Met592Lys)
c.*899T>A (n.*899T>A)
c.*1434T>A (n.*1434T>A)
c.1987T>A (n.1987T>A)
c.1607T>A (p.Met536Lys)
c.1655T>A (p.Met552Lys)
c.1751T>A (p.Met584Lys)
c.1697T>A (p.Met566Lys)
c.1658T>A (p.Met553Lys)
18g.33739179T>CCA8933813ASXL3c.1778T>C (p.Met593Thr)
c.1775T>C (p.Met592Thr)
c.*899T>C (n.*899T>C)
c.*1434T>C (n.*1434T>C)
c.1987T>C (n.1987T>C)
c.1607T>C (p.Met536Thr)
c.1655T>C (p.Met552Thr)
c.1751T>C (p.Met584Thr)
c.1697T>C (p.Met566Thr)
c.1658T>C (p.Met553Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739179T>GCA402176307ASXL3c.1778T>G (p.Met593Arg)
c.1775T>G (p.Met592Arg)
c.*899T>G (n.*899T>G)
c.*1434T>G (n.*1434T>G)
c.1987T>G (n.1987T>G)
c.1607T>G (p.Met536Arg)
c.1655T>G (p.Met552Arg)
c.1751T>G (p.Met584Arg)
c.1697T>G (p.Met566Arg)
c.1658T>G (p.Met553Arg)
gnomAD v4
18g.33739179T=CA2294855859ASXL3c.1778T= (p.Met593=)
c.1775T= (p.Met592=)
c.*899T= (n.*899T=)
c.*1434T= (n.*1434T=)
c.1987T= (n.1987T=)
c.1607T= (p.Met536=)
c.1655T= (p.Met552=)
c.1751T= (p.Met584=)
c.1697T= (p.Met566=)
c.1658T= (p.Met553=)
18g.33739180G>ACA402176308ASXL3c.1779G>A (p.Met593Ile)
c.1776G>A (p.Met592Ile)
c.*900G>A (n.*900G>A)
c.*1435G>A (n.*1435G>A)
c.1988G>A (n.1988G>A)
c.1608G>A (p.Met536Ile)
c.1656G>A (p.Met552Ile)
c.1752G>A (p.Met584Ile)
c.1698G>A (p.Met566Ile)
c.1659G>A (p.Met553Ile)
18g.33739180G>CCA402176309ASXL3c.1779G>C (p.Met593Ile)
c.1776G>C (p.Met592Ile)
c.*900G>C (n.*900G>C)
c.*1435G>C (n.*1435G>C)
c.1988G>C (n.1988G>C)
c.1608G>C (p.Met536Ile)
c.1656G>C (p.Met552Ile)
c.1752G>C (p.Met584Ile)
c.1698G>C (p.Met566Ile)
c.1659G>C (p.Met553Ile)
18g.33739180G>TCA402176310ASXL3c.1779G>T (p.Met593Ile)
c.1776G>T (p.Met592Ile)
c.*900G>T (n.*900G>T)
c.*1435G>T (n.*1435G>T)
c.1988G>T (n.1988G>T)
c.1608G>T (p.Met536Ile)
c.1656G>T (p.Met552Ile)
c.1752G>T (p.Met584Ile)
c.1698G>T (p.Met566Ile)
c.1659G>T (p.Met553Ile)
18g.33739181G>ACA402176312ASXL3c.1780G>A (p.Glu594Lys)
c.1777G>A (p.Glu593Lys)
c.*901G>A (n.*901G>A)
c.*1436G>A (n.*1436G>A)
c.1989G>A (n.1989G>A)
c.1609G>A (p.Glu537Lys)
c.1657G>A (p.Glu553Lys)
c.1753G>A (p.Glu585Lys)
c.1699G>A (p.Glu567Lys)
c.1660G>A (p.Glu554Lys)
COSMIC COSMIC
18g.33739181G>CCA402176311ASXL3c.1780G>C (p.Glu594Gln)
c.1777G>C (p.Glu593Gln)
c.*901G>C (n.*901G>C)
c.*1436G>C (n.*1436G>C)
c.1989G>C (n.1989G>C)
c.1609G>C (p.Glu537Gln)
c.1657G>C (p.Glu553Gln)
c.1753G>C (p.Glu585Gln)
c.1699G>C (p.Glu567Gln)
c.1660G>C (p.Glu554Gln)
18g.33739181G=CA2294855860ASXL3c.1780G= (p.Glu594=)
c.1777G= (p.Glu593=)
c.*901G= (n.*901G=)
c.*1436G= (n.*1436G=)
c.1989G= (n.1989G=)
c.1609G= (p.Glu537=)
c.1657G= (p.Glu553=)
c.1753G= (p.Glu585=)
c.1699G= (p.Glu567=)
c.1660G= (p.Glu554=)
18g.33739181G>TCA10588678ASXL3c.1780G>T (p.Glu594Ter)
c.1777G>T (p.Glu593Ter)
c.*901G>T (n.*901G>T)
c.*1436G>T (n.*1436G>T)
c.1989G>T (n.1989G>T)
c.1609G>T (p.Glu537Ter)
c.1657G>T (p.Glu553Ter)
c.1753G>T (p.Glu585Ter)
c.1699G>T (p.Glu567Ter)
c.1660G>T (p.Glu554Ter)
ClinVar dbSNP
18g.33739182A>CCA402176313ASXL3c.1781A>C (p.Glu594Ala)
c.1778A>C (p.Glu593Ala)
c.*902A>C (n.*902A>C)
c.*1437A>C (n.*1437A>C)
c.1990A>C (n.1990A>C)
c.1610A>C (p.Glu537Ala)
c.1658A>C (p.Glu553Ala)
c.1754A>C (p.Glu585Ala)
c.1700A>C (p.Glu567Ala)
c.1661A>C (p.Glu554Ala)
18g.33739182A>GCA402176315ASXL3c.1781A>G (p.Glu594Gly)
c.1778A>G (p.Glu593Gly)
c.*902A>G (n.*902A>G)
c.*1437A>G (n.*1437A>G)
c.1990A>G (n.1990A>G)
c.1610A>G (p.Glu537Gly)
c.1658A>G (p.Glu553Gly)
c.1754A>G (p.Glu585Gly)
c.1700A>G (p.Glu567Gly)
c.1661A>G (p.Glu554Gly)
18g.33739182A>TCA402176314ASXL3c.1781A>T (p.Glu594Val)
c.1778A>T (p.Glu593Val)
c.*902A>T (n.*902A>T)
c.*1437A>T (n.*1437A>T)
c.1990A>T (n.1990A>T)
c.1610A>T (p.Glu537Val)
c.1658A>T (p.Glu553Val)
c.1754A>T (p.Glu585Val)
c.1700A>T (p.Glu567Val)
c.1661A>T (p.Glu554Val)
18g.33739183G>ACA503768712ASXL3c.1782G>A (p.Glu594=)
c.1779G>A (p.Glu593=)
c.*903G>A (n.*903G>A)
c.*1438G>A (n.*1438G>A)
c.1991G>A (n.1991G>A)
c.1611G>A (p.Glu537=)
c.1659G>A (p.Glu553=)
c.1755G>A (p.Glu585=)
c.1701G>A (p.Glu567=)
c.1662G>A (p.Glu554=)
gnomAD v4
18g.33739183G>CCA402176316ASXL3c.1782G>C (p.Glu594Asp)
c.1779G>C (p.Glu593Asp)
c.*903G>C (n.*903G>C)
c.*1438G>C (n.*1438G>C)
c.1991G>C (n.1991G>C)
c.1611G>C (p.Glu537Asp)
c.1659G>C (p.Glu553Asp)
c.1755G>C (p.Glu585Asp)
c.1701G>C (p.Glu567Asp)
c.1662G>C (p.Glu554Asp)
18g.33739183G>TCA402176317ASXL3c.1782G>T (p.Glu594Asp)
c.1779G>T (p.Glu593Asp)
c.*903G>T (n.*903G>T)
c.*1438G>T (n.*1438G>T)
c.1991G>T (n.1991G>T)
c.1611G>T (p.Glu537Asp)
c.1659G>T (p.Glu553Asp)
c.1755G>T (p.Glu585Asp)
c.1701G>T (p.Glu567Asp)
c.1662G>T (p.Glu554Asp)
18g.33739184C>ACA402176318ASXL3c.1783C>A (p.Leu595Ile)
c.1780C>A (p.Leu594Ile)
c.*904C>A (n.*904C>A)
c.*1439C>A (n.*1439C>A)
c.1992C>A (n.1992C>A)
c.1612C>A (p.Leu538Ile)
c.1660C>A (p.Leu554Ile)
c.1756C>A (p.Leu586Ile)
c.1702C>A (p.Leu568Ile)
c.1663C>A (p.Leu555Ile)
18g.33739184C>GCA402176319ASXL3c.1783C>G (p.Leu595Val)
c.1780C>G (p.Leu594Val)
c.*904C>G (n.*904C>G)
c.*1439C>G (n.*1439C>G)
c.1992C>G (n.1992C>G)
c.1612C>G (p.Leu538Val)
c.1660C>G (p.Leu554Val)
c.1756C>G (p.Leu586Val)
c.1702C>G (p.Leu568Val)
c.1663C>G (p.Leu555Val)
18g.33739184C>TCA503768717ASXL3c.1783C>T (p.Leu595=)
c.1780C>T (p.Leu594=)
c.*904C>T (n.*904C>T)
c.*1439C>T (n.*1439C>T)
c.1992C>T (n.1992C>T)
c.1612C>T (p.Leu538=)
c.1660C>T (p.Leu554=)
c.1756C>T (p.Leu586=)
c.1702C>T (p.Leu568=)
c.1663C>T (p.Leu555=)
COSMIC COSMIC
18g.33739185T>ACA402176320ASXL3c.1784T>A (p.Leu595Gln)
c.1781T>A (p.Leu594Gln)
c.*905T>A (n.*905T>A)
c.*1440T>A (n.*1440T>A)
c.1993T>A (n.1993T>A)
c.1613T>A (p.Leu538Gln)
c.1661T>A (p.Leu554Gln)
c.1757T>A (p.Leu586Gln)
c.1703T>A (p.Leu568Gln)
c.1664T>A (p.Leu555Gln)
gnomAD v4
18g.33739185T>CCA402176321ASXL3c.1784T>C (p.Leu595Pro)
c.1781T>C (p.Leu594Pro)
c.*905T>C (n.*905T>C)
c.*1440T>C (n.*1440T>C)
c.1993T>C (n.1993T>C)
c.1613T>C (p.Leu538Pro)
c.1661T>C (p.Leu554Pro)
c.1757T>C (p.Leu586Pro)
c.1703T>C (p.Leu568Pro)
c.1664T>C (p.Leu555Pro)
ClinVar
18g.33739185T>GCA402176322ASXL3c.1784T>G (p.Leu595Arg)
c.1781T>G (p.Leu594Arg)
c.*905T>G (n.*905T>G)
c.*1440T>G (n.*1440T>G)
c.1993T>G (n.1993T>G)
c.1613T>G (p.Leu538Arg)
c.1661T>G (p.Leu554Arg)
c.1757T>G (p.Leu586Arg)
c.1703T>G (p.Leu568Arg)
c.1664T>G (p.Leu555Arg)
18g.33739186A>CCA503768718ASXL3c.1785A>C (p.Leu595=)
c.1782A>C (p.Leu594=)
c.*906A>C (n.*906A>C)
c.*1441A>C (n.*1441A>C)
c.1994A>C (n.1994A>C)
c.1614A>C (p.Leu538=)
c.1662A>C (p.Leu554=)
c.1758A>C (p.Leu586=)
c.1704A>C (p.Leu568=)
c.1665A>C (p.Leu555=)
18g.33739186A>GCA503768719ASXL3c.1785A>G (p.Leu595=)
c.1782A>G (p.Leu594=)
c.*906A>G (n.*906A>G)
c.*1441A>G (n.*1441A>G)
c.1994A>G (n.1994A>G)
c.1614A>G (p.Leu538=)
c.1662A>G (p.Leu554=)
c.1758A>G (p.Leu586=)
c.1704A>G (p.Leu568=)
c.1665A>G (p.Leu555=)
gnomAD v4
18g.33739186A>TCA503768720ASXL3c.1785A>T (p.Leu595=)
c.1782A>T (p.Leu594=)
c.*906A>T (n.*906A>T)
c.*1441A>T (n.*1441A>T)
c.1994A>T (n.1994A>T)
c.1614A>T (p.Leu538=)
c.1662A>T (p.Leu554=)
c.1758A>T (p.Leu586=)
c.1704A>T (p.Leu568=)
c.1665A>T (p.Leu555=)
18g.33739187C>ACA402176323ASXL3c.1786C>A (p.Gln596Lys)
c.1783C>A (p.Gln595Lys)
c.*907C>A (n.*907C>A)
c.*1442C>A (n.*1442C>A)
c.1995C>A (n.1995C>A)
c.1615C>A (p.Gln539Lys)
c.1663C>A (p.Gln555Lys)
c.1759C>A (p.Gln587Lys)
c.1705C>A (p.Gln569Lys)
c.1666C>A (p.Gln556Lys)
18g.33739187C=CA2294855861ASXL3c.1786C= (p.Gln596=)
c.1783C= (p.Gln595=)
c.*907C= (n.*907C=)
c.*1442C= (n.*1442C=)
c.1995C= (n.1995C=)
c.1615C= (p.Gln539=)
c.1663C= (p.Gln555=)
c.1759C= (p.Gln587=)
c.1705C= (p.Gln569=)
c.1666C= (p.Gln556=)
18g.33739187C>GCA402176324ASXL3c.1786C>G (p.Gln596Glu)
c.1783C>G (p.Gln595Glu)
c.*907C>G (n.*907C>G)
c.*1442C>G (n.*1442C>G)
c.1995C>G (n.1995C>G)
c.1615C>G (p.Gln539Glu)
c.1663C>G (p.Gln555Glu)
c.1759C>G (p.Gln587Glu)
c.1705C>G (p.Gln569Glu)
c.1666C>G (p.Gln556Glu)
gnomAD v4
18g.33739187C>TCA402176325ASXL3c.1786C>T (p.Gln596Ter)
c.1783C>T (p.Gln595Ter)
c.*907C>T (n.*907C>T)
c.*1442C>T (n.*1442C>T)
c.1995C>T (n.1995C>T)
c.1615C>T (p.Gln539Ter)
c.1663C>T (p.Gln555Ter)
c.1759C>T (p.Gln587Ter)
c.1705C>T (p.Gln569Ter)
c.1666C>T (p.Gln556Ter)
ClinVar dbSNP
18g.33739188A=CA2294855862ASXL3c.1787A= (p.Gln596=)
c.1784A= (p.Gln595=)
c.*908A= (n.*908A=)
c.*1443A= (n.*1443A=)
c.1996A= (n.1996A=)
c.1616A= (p.Gln539=)
c.1664A= (p.Gln555=)
c.1760A= (p.Gln587=)
c.1706A= (p.Gln569=)
c.1667A= (p.Gln556=)
18g.33739188A>CCA402176326ASXL3c.1787A>C (p.Gln596Pro)
c.1784A>C (p.Gln595Pro)
c.*908A>C (n.*908A>C)
c.*1443A>C (n.*1443A>C)
c.1996A>C (n.1996A>C)
c.1616A>C (p.Gln539Pro)
c.1664A>C (p.Gln555Pro)
c.1760A>C (p.Gln587Pro)
c.1706A>C (p.Gln569Pro)
c.1667A>C (p.Gln556Pro)
18g.33739188A>GCA402176327ASXL3c.1787A>G (p.Gln596Arg)
c.1784A>G (p.Gln595Arg)
c.*908A>G (n.*908A>G)
c.*1443A>G (n.*1443A>G)
c.1996A>G (n.1996A>G)
c.1616A>G (p.Gln539Arg)
c.1664A>G (p.Gln555Arg)
c.1760A>G (p.Gln587Arg)
c.1706A>G (p.Gln569Arg)
c.1667A>G (p.Gln556Arg)
dbSNP gnomAD v2 gnomAD v4
18g.33739188A>TCA402176328ASXL3c.1787A>T (p.Gln596Leu)
c.1784A>T (p.Gln595Leu)
c.*908A>T (n.*908A>T)
c.*1443A>T (n.*1443A>T)
c.1996A>T (n.1996A>T)
c.1616A>T (p.Gln539Leu)
c.1664A>T (p.Gln555Leu)
c.1760A>T (p.Gln587Leu)
c.1706A>T (p.Gln569Leu)
c.1667A>T (p.Gln556Leu)
18g.33739189G>ACA503768723ASXL3c.1788G>A (p.Gln596=)
c.1785G>A (p.Gln595=)
c.*909G>A (n.*909G>A)
c.*1444G>A (n.*1444G>A)
c.1997G>A (n.1997G>A)
c.1617G>A (p.Gln539=)
c.1665G>A (p.Gln555=)
c.1761G>A (p.Gln587=)
c.1707G>A (p.Gln569=)
c.1668G>A (p.Gln556=)
18g.33739189G>CCA297787017ASXL3c.1788G>C (p.Gln596His)
c.1785G>C (p.Gln595His)
c.*909G>C (n.*909G>C)
c.*1444G>C (n.*1444G>C)
c.1997G>C (n.1997G>C)
c.1617G>C (p.Gln539His)
c.1665G>C (p.Gln555His)
c.1761G>C (p.Gln587His)
c.1707G>C (p.Gln569His)
c.1668G>C (p.Gln556His)
dbSNP gnomAD v4
18g.33739189G=CA2294855863ASXL3c.1788G= (p.Gln596=)
c.1785G= (p.Gln595=)
c.*909G= (n.*909G=)
c.*1444G= (n.*1444G=)
c.1997G= (n.1997G=)
c.1617G= (p.Gln539=)
c.1665G= (p.Gln555=)
c.1761G= (p.Gln587=)
c.1707G= (p.Gln569=)
c.1668G= (p.Gln556=)
18g.33739189G>TCA402176329ASXL3c.1788G>T (p.Gln596His)
c.1785G>T (p.Gln595His)
c.*909G>T (n.*909G>T)
c.*1444G>T (n.*1444G>T)
c.1997G>T (n.1997G>T)
c.1617G>T (p.Gln539His)
c.1665G>T (p.Gln555His)
c.1761G>T (p.Gln587His)
c.1707G>T (p.Gln569His)
c.1668G>T (p.Gln556His)
18g.33739190A>CCA402176330ASXL3c.1789A>C (p.Ser597Arg)
c.1786A>C (p.Ser596Arg)
c.*910A>C (n.*910A>C)
c.*1445A>C (n.*1445A>C)
c.1998A>C (n.1998A>C)
c.1618A>C (p.Ser540Arg)
c.1666A>C (p.Ser556Arg)
c.1762A>C (p.Ser588Arg)
c.1708A>C (p.Ser570Arg)
c.1669A>C (p.Ser557Arg)
18g.33739190A>GCA402176332ASXL3c.1789A>G (p.Ser597Gly)
c.1786A>G (p.Ser596Gly)
c.*910A>G (n.*910A>G)
c.*1445A>G (n.*1445A>G)
c.1998A>G (n.1998A>G)
c.1618A>G (p.Ser540Gly)
c.1666A>G (p.Ser556Gly)
c.1762A>G (p.Ser588Gly)
c.1708A>G (p.Ser570Gly)
c.1669A>G (p.Ser557Gly)
18g.33739190A>TCA402176331ASXL3c.1789A>T (p.Ser597Cys)
c.1786A>T (p.Ser596Cys)
c.*910A>T (n.*910A>T)
c.*1445A>T (n.*1445A>T)
c.1998A>T (n.1998A>T)
c.1618A>T (p.Ser540Cys)
c.1666A>T (p.Ser556Cys)
c.1762A>T (p.Ser588Cys)
c.1708A>T (p.Ser570Cys)
c.1669A>T (p.Ser557Cys)
18g.33739191G>ACA402176333ASXL3c.1790G>A (p.Ser597Asn)
c.1787G>A (p.Ser596Asn)
c.*911G>A (n.*911G>A)
c.*1446G>A (n.*1446G>A)
c.1999G>A (n.1999G>A)
c.1619G>A (p.Ser540Asn)
c.1667G>A (p.Ser556Asn)
c.1763G>A (p.Ser588Asn)
c.1709G>A (p.Ser570Asn)
c.1670G>A (p.Ser557Asn)
18g.33739191G>CCA402176334ASXL3c.1790G>C (p.Ser597Thr)
c.1787G>C (p.Ser596Thr)
c.*911G>C (n.*911G>C)
c.*1446G>C (n.*1446G>C)
c.1999G>C (n.1999G>C)
c.1619G>C (p.Ser540Thr)
c.1667G>C (p.Ser556Thr)
c.1763G>C (p.Ser588Thr)
c.1709G>C (p.Ser570Thr)
c.1670G>C (p.Ser557Thr)
18g.33739191G>TCA402176335ASXL3c.1790G>T (p.Ser597Ile)
c.1787G>T (p.Ser596Ile)
c.*911G>T (n.*911G>T)
c.*1446G>T (n.*1446G>T)
c.1999G>T (n.1999G>T)
c.1619G>T (p.Ser540Ile)
c.1667G>T (p.Ser556Ile)
c.1763G>T (p.Ser588Ile)
c.1709G>T (p.Ser570Ile)
c.1670G>T (p.Ser557Ile)
gnomAD v4
18g.33739192T>ACA402176336ASXL3c.1791T>A (p.Ser597Arg)
c.1788T>A (p.Ser596Arg)
c.*912T>A (n.*912T>A)
c.*1447T>A (n.*1447T>A)
c.2000T>A (n.2000T>A)
c.1620T>A (p.Ser540Arg)
c.1668T>A (p.Ser556Arg)
c.1764T>A (p.Ser588Arg)
c.1710T>A (p.Ser570Arg)
c.1671T>A (p.Ser557Arg)
18g.33739192T>CCA503768726ASXL3c.1791T>C (p.Ser597=)
c.1788T>C (p.Ser596=)
c.*912T>C (n.*912T>C)
c.*1447T>C (n.*1447T>C)
c.2000T>C (n.2000T>C)
c.1620T>C (p.Ser540=)
c.1668T>C (p.Ser556=)
c.1764T>C (p.Ser588=)
c.1710T>C (p.Ser570=)
c.1671T>C (p.Ser557=)
18g.33739192T>GCA402176337ASXL3c.1791T>G (p.Ser597Arg)
c.1788T>G (p.Ser596Arg)
c.*912T>G (n.*912T>G)
c.*1447T>G (n.*1447T>G)
c.2000T>G (n.2000T>G)
c.1620T>G (p.Ser540Arg)
c.1668T>G (p.Ser556Arg)
c.1764T>G (p.Ser588Arg)
c.1710T>G (p.Ser570Arg)
c.1671T>G (p.Ser557Arg)
18g.33739193G>ACA402176338ASXL3c.1792G>A (p.Asp598Asn)
c.1789G>A (p.Asp597Asn)
c.*913G>A (n.*913G>A)
c.*1448G>A (n.*1448G>A)
c.2001G>A (n.2001G>A)
c.1621G>A (p.Asp541Asn)
c.1669G>A (p.Asp557Asn)
c.1765G>A (p.Asp589Asn)
c.1711G>A (p.Asp571Asn)
c.1672G>A (p.Asp558Asn)
COSMIC COSMIC
18g.33739193G>CCA402176339ASXL3c.1792G>C (p.Asp598His)
c.1789G>C (p.Asp597His)
c.*913G>C (n.*913G>C)
c.*1448G>C (n.*1448G>C)
c.2001G>C (n.2001G>C)
c.1621G>C (p.Asp541His)
c.1669G>C (p.Asp557His)
c.1765G>C (p.Asp589His)
c.1711G>C (p.Asp571His)
c.1672G>C (p.Asp558His)
18g.33739193G>TCA402176340ASXL3c.1792G>T (p.Asp598Tyr)
c.1789G>T (p.Asp597Tyr)
c.*913G>T (n.*913G>T)
c.*1448G>T (n.*1448G>T)
c.2001G>T (n.2001G>T)
c.1621G>T (p.Asp541Tyr)
c.1669G>T (p.Asp557Tyr)
c.1765G>T (p.Asp589Tyr)
c.1711G>T (p.Asp571Tyr)
c.1672G>T (p.Asp558Tyr)
18g.33739194A=CA2294855864ASXL3c.1793A= (p.Asp598=)
c.1790A= (p.Asp597=)
c.*914A= (n.*914A=)
c.*1449A= (n.*1449A=)
c.2002A= (n.2002A=)
c.1622A= (p.Asp541=)
c.1670A= (p.Asp557=)
c.1766A= (p.Asp589=)
c.1712A= (p.Asp571=)
c.1673A= (p.Asp558=)
18g.33739194A>CCA402176341ASXL3c.1793A>C (p.Asp598Ala)
c.1790A>C (p.Asp597Ala)
c.*914A>C (n.*914A>C)
c.*1449A>C (n.*1449A>C)
c.2002A>C (n.2002A>C)
c.1622A>C (p.Asp541Ala)
c.1670A>C (p.Asp557Ala)
c.1766A>C (p.Asp589Ala)
c.1712A>C (p.Asp571Ala)
c.1673A>C (p.Asp558Ala)
18g.33739194A>GCA402176342ASXL3c.1793A>G (p.Asp598Gly)
c.1790A>G (p.Asp597Gly)
c.*914A>G (n.*914A>G)
c.*1449A>G (n.*1449A>G)
c.2002A>G (n.2002A>G)
c.1622A>G (p.Asp541Gly)
c.1670A>G (p.Asp557Gly)
c.1766A>G (p.Asp589Gly)
c.1712A>G (p.Asp571Gly)
c.1673A>G (p.Asp558Gly)
18g.33739194A>TCA402176343ASXL3c.1793A>T (p.Asp598Val)
c.1790A>T (p.Asp597Val)
c.*914A>T (n.*914A>T)
c.*1449A>T (n.*1449A>T)
c.2002A>T (n.2002A>T)
c.1622A>T (p.Asp541Val)
c.1670A>T (p.Asp557Val)
c.1766A>T (p.Asp589Val)
c.1712A>T (p.Asp571Val)
c.1673A>T (p.Asp558Val)
dbSNP
18g.33739195C>ACA402176344ASXL3c.1794C>A (p.Asp598Glu)
c.1791C>A (p.Asp597Glu)
c.*915C>A (n.*915C>A)
c.*1450C>A (n.*1450C>A)
c.2003C>A (n.2003C>A)
c.1623C>A (p.Asp541Glu)
c.1671C>A (p.Asp557Glu)
c.1767C>A (p.Asp589Glu)
c.1713C>A (p.Asp571Glu)
c.1674C>A (p.Asp558Glu)
dbSNP gnomAD v3 gnomAD v4
18g.33739195C=CA2294855865ASXL3c.1794C= (p.Asp598=)
c.1791C= (p.Asp597=)
c.*915C= (n.*915C=)
c.*1450C= (n.*1450C=)
c.2003C= (n.2003C=)
c.1623C= (p.Asp541=)
c.1671C= (p.Asp557=)
c.1767C= (p.Asp589=)
c.1713C= (p.Asp571=)
c.1674C= (p.Asp558=)
18g.33739195C>GCA402176345ASXL3c.1794C>G (p.Asp598Glu)
c.1791C>G (p.Asp597Glu)
c.*915C>G (n.*915C>G)
c.*1450C>G (n.*1450C>G)
c.2003C>G (n.2003C>G)
c.1623C>G (p.Asp541Glu)
c.1671C>G (p.Asp557Glu)
c.1767C>G (p.Asp589Glu)
c.1713C>G (p.Asp571Glu)
c.1674C>G (p.Asp558Glu)
18g.33739195C>TCA503768729ASXL3c.1794C>T (p.Asp598=)
c.1791C>T (p.Asp597=)
c.*915C>T (n.*915C>T)
c.*1450C>T (n.*1450C>T)
c.2003C>T (n.2003C>T)
c.1623C>T (p.Asp541=)
c.1671C>T (p.Asp557=)
c.1767C>T (p.Asp589=)
c.1713C>T (p.Asp571=)
c.1674C>T (p.Asp558=)
18g.33739196C>ACA402176346ASXL3c.1795C>A (p.Pro599Thr)
c.1792C>A (p.Pro598Thr)
c.*916C>A (n.*916C>A)
c.*1451C>A (n.*1451C>A)
c.2004C>A (n.2004C>A)
c.1624C>A (p.Pro542Thr)
c.1672C>A (p.Pro558Thr)
c.1768C>A (p.Pro590Thr)
c.1714C>A (p.Pro572Thr)
c.1675C>A (p.Pro559Thr)
dbSNP gnomAD v2 gnomAD v4
18g.33739196C=CA2294855866ASXL3c.1795C= (p.Pro599=)
c.1792C= (p.Pro598=)
c.*916C= (n.*916C=)
c.*1451C= (n.*1451C=)
c.2004C= (n.2004C=)
c.1624C= (p.Pro542=)
c.1672C= (p.Pro558=)
c.1768C= (p.Pro590=)
c.1714C= (p.Pro572=)
c.1675C= (p.Pro559=)
18g.33739196C>GCA402176347ASXL3c.1795C>G (p.Pro599Ala)
c.1792C>G (p.Pro598Ala)
c.*916C>G (n.*916C>G)
c.*1451C>G (n.*1451C>G)
c.2004C>G (n.2004C>G)
c.1624C>G (p.Pro542Ala)
c.1672C>G (p.Pro558Ala)
c.1768C>G (p.Pro590Ala)
c.1714C>G (p.Pro572Ala)
c.1675C>G (p.Pro559Ala)
gnomAD v4
18g.33739196C>TCA402176348ASXL3c.1795C>T (p.Pro599Ser)
c.1792C>T (p.Pro598Ser)
c.*916C>T (n.*916C>T)
c.*1451C>T (n.*1451C>T)
c.2004C>T (n.2004C>T)
c.1624C>T (p.Pro542Ser)
c.1672C>T (p.Pro558Ser)
c.1768C>T (p.Pro590Ser)
c.1714C>T (p.Pro572Ser)
c.1675C>T (p.Pro559Ser)
18g.33739197C>ACA402176349ASXL3c.1796C>A (p.Pro599His)
c.1793C>A (p.Pro598His)
c.*917C>A (n.*917C>A)
c.*1452C>A (n.*1452C>A)
c.2005C>A (n.2005C>A)
c.1625C>A (p.Pro542His)
c.1673C>A (p.Pro558His)
c.1769C>A (p.Pro590His)
c.1715C>A (p.Pro572His)
c.1676C>A (p.Pro559His)
18g.33739197C>GCA402176350ASXL3c.1796C>G (p.Pro599Arg)
c.1793C>G (p.Pro598Arg)
c.*917C>G (n.*917C>G)
c.*1452C>G (n.*1452C>G)
c.2005C>G (n.2005C>G)
c.1625C>G (p.Pro542Arg)
c.1673C>G (p.Pro558Arg)
c.1769C>G (p.Pro590Arg)
c.1715C>G (p.Pro572Arg)
c.1676C>G (p.Pro559Arg)
18g.33739197C>TCA402176351ASXL3c.1796C>T (p.Pro599Leu)
c.1793C>T (p.Pro598Leu)
c.*917C>T (n.*917C>T)
c.*1452C>T (n.*1452C>T)
c.2005C>T (n.2005C>T)
c.1625C>T (p.Pro542Leu)
c.1673C>T (p.Pro558Leu)
c.1769C>T (p.Pro590Leu)
c.1715C>T (p.Pro572Leu)
c.1676C>T (p.Pro559Leu)
18g.33739198T>ACA503768735ASXL3c.1797T>A (p.Pro599=)
c.1794T>A (p.Pro598=)
c.*918T>A (n.*918T>A)
c.*1453T>A (n.*1453T>A)
c.2006T>A (n.2006T>A)
c.1626T>A (p.Pro542=)
c.1674T>A (p.Pro558=)
c.1770T>A (p.Pro590=)
c.1716T>A (p.Pro572=)
c.1677T>A (p.Pro559=)
18g.33739198T>CCA503768736ASXL3c.1797T>C (p.Pro599=)
c.1794T>C (p.Pro598=)
c.*918T>C (n.*918T>C)
c.*1453T>C (n.*1453T>C)
c.2006T>C (n.2006T>C)
c.1626T>C (p.Pro542=)
c.1674T>C (p.Pro558=)
c.1770T>C (p.Pro590=)
c.1716T>C (p.Pro572=)
c.1677T>C (p.Pro559=)
dbSNP gnomAD v3 gnomAD v4
18g.33739198T>GCA503768738ASXL3c.1797T>G (p.Pro599=)
c.1794T>G (p.Pro598=)
c.*918T>G (n.*918T>G)
c.*1453T>G (n.*1453T>G)
c.2006T>G (n.2006T>G)
c.1626T>G (p.Pro542=)
c.1674T>G (p.Pro558=)
c.1770T>G (p.Pro590=)
c.1716T>G (p.Pro572=)
c.1677T>G (p.Pro559=)
18g.33739198T=CA2294855867ASXL3c.1797T= (p.Pro599=)
c.1794T= (p.Pro598=)
c.*918T= (n.*918T=)
c.*1453T= (n.*1453T=)
c.2006T= (n.2006T=)
c.1626T= (p.Pro542=)
c.1674T= (p.Pro558=)
c.1770T= (p.Pro590=)
c.1716T= (p.Pro572=)
c.1677T= (p.Pro559=)
18g.33739199G>ACA402176354ASXL3c.1798G>A (p.Glu600Lys)
c.1795G>A (p.Glu599Lys)
c.*919G>A (n.*919G>A)
c.*1454G>A (n.*1454G>A)
c.2007G>A (n.2007G>A)
c.1627G>A (p.Glu543Lys)
c.1675G>A (p.Glu559Lys)
c.1771G>A (p.Glu591Lys)
c.1717G>A (p.Glu573Lys)
c.1678G>A (p.Glu560Lys)
COSMIC COSMIC
18g.33739199G>CCA402176352ASXL3c.1798G>C (p.Glu600Gln)
c.1795G>C (p.Glu599Gln)
c.*919G>C (n.*919G>C)
c.*1454G>C (n.*1454G>C)
c.2007G>C (n.2007G>C)
c.1627G>C (p.Glu543Gln)
c.1675G>C (p.Glu559Gln)
c.1771G>C (p.Glu591Gln)
c.1717G>C (p.Glu573Gln)
c.1678G>C (p.Glu560Gln)
18g.33739199G>TCA402176353ASXL3c.1798G>T (p.Glu600Ter)
c.1795G>T (p.Glu599Ter)
c.*919G>T (n.*919G>T)
c.*1454G>T (n.*1454G>T)
c.2007G>T (n.2007G>T)
c.1627G>T (p.Glu543Ter)
c.1675G>T (p.Glu559Ter)
c.1771G>T (p.Glu591Ter)
c.1717G>T (p.Glu573Ter)
c.1678G>T (p.Glu560Ter)
18g.33739200A>CCA402176355ASXL3c.1799A>C (p.Glu600Ala)
c.1796A>C (p.Glu599Ala)
c.*920A>C (n.*920A>C)
c.*1455A>C (n.*1455A>C)
c.2008A>C (n.2008A>C)
c.1628A>C (p.Glu543Ala)
c.1676A>C (p.Glu559Ala)
c.1772A>C (p.Glu591Ala)
c.1718A>C (p.Glu573Ala)
c.1679A>C (p.Glu560Ala)
18g.33739200A>GCA402176356ASXL3c.1799A>G (p.Glu600Gly)
c.1796A>G (p.Glu599Gly)
c.*920A>G (n.*920A>G)
c.*1455A>G (n.*1455A>G)
c.2008A>G (n.2008A>G)
c.1628A>G (p.Glu543Gly)
c.1676A>G (p.Glu559Gly)
c.1772A>G (p.Glu591Gly)
c.1718A>G (p.Glu573Gly)
c.1679A>G (p.Glu560Gly)
18g.33739200A>TCA402176357ASXL3c.1799A>T (p.Glu600Val)
c.1796A>T (p.Glu599Val)
c.*920A>T (n.*920A>T)
c.*1455A>T (n.*1455A>T)
c.2008A>T (n.2008A>T)
c.1628A>T (p.Glu543Val)
c.1676A>T (p.Glu559Val)
c.1772A>T (p.Glu591Val)
c.1718A>T (p.Glu573Val)
c.1679A>T (p.Glu560Val)
18g.33739201A>CCA402176358ASXL3c.1800A>C (p.Glu600Asp)
c.1797A>C (p.Glu599Asp)
c.*921A>C (n.*921A>C)
c.*1456A>C (n.*1456A>C)
c.2009A>C (n.2009A>C)
c.1629A>C (p.Glu543Asp)
c.1677A>C (p.Glu559Asp)
c.1773A>C (p.Glu591Asp)
c.1719A>C (p.Glu573Asp)
c.1680A>C (p.Glu560Asp)
18g.33739201A>GCA503768740ASXL3c.1800A>G (p.Glu600=)
c.1797A>G (p.Glu599=)
c.*921A>G (n.*921A>G)
c.*1456A>G (n.*1456A>G)
c.2009A>G (n.2009A>G)
c.1629A>G (p.Glu543=)
c.1677A>G (p.Glu559=)
c.1773A>G (p.Glu591=)
c.1719A>G (p.Glu573=)
c.1680A>G (p.Glu560=)
18g.33739201A>TCA402176359ASXL3c.1800A>T (p.Glu600Asp)
c.1797A>T (p.Glu599Asp)
c.*921A>T (n.*921A>T)
c.*1456A>T (n.*1456A>T)
c.2009A>T (n.2009A>T)
c.1629A>T (p.Glu543Asp)
c.1677A>T (p.Glu559Asp)
c.1773A>T (p.Glu591Asp)
c.1719A>T (p.Glu573Asp)
c.1680A>T (p.Glu560Asp)
18g.33739202G>ACA297787020ASXL3c.1801G>A (p.Glu601Lys)
c.1798G>A (p.Glu600Lys)
c.*922G>A (n.*922G>A)
c.*1457G>A (n.*1457G>A)
c.2010G>A (n.2010G>A)
c.1630G>A (p.Glu544Lys)
c.1678G>A (p.Glu560Lys)
c.1774G>A (p.Glu592Lys)
c.1720G>A (p.Glu574Lys)
c.1681G>A (p.Glu561Lys)
dbSNP gnomAD v2 COSMIC COSMIC
18g.33739202G>CCA402176361ASXL3c.1801G>C (p.Glu601Gln)
c.1798G>C (p.Glu600Gln)
c.*922G>C (n.*922G>C)
c.*1457G>C (n.*1457G>C)
c.2010G>C (n.2010G>C)
c.1630G>C (p.Glu544Gln)
c.1678G>C (p.Glu560Gln)
c.1774G>C (p.Glu592Gln)
c.1720G>C (p.Glu574Gln)
c.1681G>C (p.Glu561Gln)
18g.33739202G=CA2294855868ASXL3c.1801G= (p.Glu601=)
c.1798G= (p.Glu600=)
c.*922G= (n.*922G=)
c.*1457G= (n.*1457G=)
c.2010G= (n.2010G=)
c.1630G= (p.Glu544=)
c.1678G= (p.Glu560=)
c.1774G= (p.Glu592=)
c.1720G= (p.Glu574=)
c.1681G= (p.Glu561=)
18g.33739202G>TCA402176360ASXL3c.1801G>T (p.Glu601Ter)
c.1798G>T (p.Glu600Ter)
c.*922G>T (n.*922G>T)
c.*1457G>T (n.*1457G>T)
c.2010G>T (n.2010G>T)
c.1630G>T (p.Glu544Ter)
c.1678G>T (p.Glu560Ter)
c.1774G>T (p.Glu592Ter)
c.1720G>T (p.Glu574Ter)
c.1681G>T (p.Glu561Ter)
18g.33739203A>CCA402176362ASXL3c.1802A>C (p.Glu601Ala)
c.1799A>C (p.Glu600Ala)
c.*923A>C (n.*923A>C)
c.*1458A>C (n.*1458A>C)
c.2011A>C (n.2011A>C)
c.1631A>C (p.Glu544Ala)
c.1679A>C (p.Glu560Ala)
c.1775A>C (p.Glu592Ala)
c.1721A>C (p.Glu574Ala)
c.1682A>C (p.Glu561Ala)
18g.33739203A>GCA402176363ASXL3c.1802A>G (p.Glu601Gly)
c.1799A>G (p.Glu600Gly)
c.*923A>G (n.*923A>G)
c.*1458A>G (n.*1458A>G)
c.2011A>G (n.2011A>G)
c.1631A>G (p.Glu544Gly)
c.1679A>G (p.Glu560Gly)
c.1775A>G (p.Glu592Gly)
c.1721A>G (p.Glu574Gly)
c.1682A>G (p.Glu561Gly)
18g.33739203A>TCA402176364ASXL3c.1802A>T (p.Glu601Val)
c.1799A>T (p.Glu600Val)
c.*923A>T (n.*923A>T)
c.*1458A>T (n.*1458A>T)
c.2011A>T (n.2011A>T)
c.1631A>T (p.Glu544Val)
c.1679A>T (p.Glu560Val)
c.1775A>T (p.Glu592Val)
c.1721A>T (p.Glu574Val)
c.1682A>T (p.Glu561Val)
18g.33739204A>CCA402176365ASXL3c.1803A>C (p.Glu601Asp)
c.1800A>C (p.Glu600Asp)
c.*924A>C (n.*924A>C)
c.*1459A>C (n.*1459A>C)
c.2012A>C (n.2012A>C)
c.1632A>C (p.Glu544Asp)
c.1680A>C (p.Glu560Asp)
c.1776A>C (p.Glu592Asp)
c.1722A>C (p.Glu574Asp)
c.1683A>C (p.Glu561Asp)
18g.33739204A>GCA503768744ASXL3c.1803A>G (p.Glu601=)
c.1800A>G (p.Glu600=)
c.*924A>G (n.*924A>G)
c.*1459A>G (n.*1459A>G)
c.2012A>G (n.2012A>G)
c.1632A>G (p.Glu544=)
c.1680A>G (p.Glu560=)
c.1776A>G (p.Glu592=)
c.1722A>G (p.Glu574=)
c.1683A>G (p.Glu561=)
COSMIC COSMIC
18g.33739204A>TCA402176366ASXL3c.1803A>T (p.Glu601Asp)
c.1800A>T (p.Glu600Asp)
c.*924A>T (n.*924A>T)
c.*1459A>T (n.*1459A>T)
c.2012A>T (n.2012A>T)
c.1632A>T (p.Glu544Asp)
c.1680A>T (p.Glu560Asp)
c.1776A>T (p.Glu592Asp)
c.1722A>T (p.Glu574Asp)
c.1683A>T (p.Glu561Asp)
18g.33739205C>ACA402176367ASXL3c.1804C>A (p.Gln602Lys)
c.1801C>A (p.Gln601Lys)
c.*925C>A (n.*925C>A)
c.*1460C>A (n.*1460C>A)
c.2013C>A (n.2013C>A)
c.1633C>A (p.Gln545Lys)
c.1681C>A (p.Gln561Lys)
c.1777C>A (p.Gln593Lys)
c.1723C>A (p.Gln575Lys)
c.1684C>A (p.Gln562Lys)
18g.33739205C=CA2294855869ASXL3c.1804C= (p.Gln602=)
c.1801C= (p.Gln601=)
c.*925C= (n.*925C=)
c.*1460C= (n.*1460C=)
c.2013C= (n.2013C=)
c.1633C= (p.Gln545=)
c.1681C= (p.Gln561=)
c.1777C= (p.Gln593=)
c.1723C= (p.Gln575=)
c.1684C= (p.Gln562=)
18g.33739205C>GCA402176368ASXL3c.1804C>G (p.Gln602Glu)
c.1801C>G (p.Gln601Glu)
c.*925C>G (n.*925C>G)
c.*1460C>G (n.*1460C>G)
c.2013C>G (n.2013C>G)
c.1633C>G (p.Gln545Glu)
c.1681C>G (p.Gln561Glu)
c.1777C>G (p.Gln593Glu)
c.1723C>G (p.Gln575Glu)
c.1684C>G (p.Gln562Glu)
gnomAD v4
18g.33739205C>TCA402176369ASXL3c.1804C>T (p.Gln602Ter)
c.1801C>T (p.Gln601Ter)
c.*925C>T (n.*925C>T)
c.*1460C>T (n.*1460C>T)
c.2013C>T (n.2013C>T)
c.1633C>T (p.Gln545Ter)
c.1681C>T (p.Gln561Ter)
c.1777C>T (p.Gln593Ter)
c.1723C>T (p.Gln575Ter)
c.1684C>T (p.Gln562Ter)
ClinVar dbSNP gnomAD v4
18g.33739206A>CCA402176370ASXL3c.1805A>C (p.Gln602Pro)
c.1802A>C (p.Gln601Pro)
c.*926A>C (n.*926A>C)
c.*1461A>C (n.*1461A>C)
c.2014A>C (n.2014A>C)
c.1634A>C (p.Gln545Pro)
c.1682A>C (p.Gln561Pro)
c.1778A>C (p.Gln593Pro)
c.1724A>C (p.Gln575Pro)
c.1685A>C (p.Gln562Pro)
18g.33739206A>GCA402176371ASXL3c.1805A>G (p.Gln602Arg)
c.1802A>G (p.Gln601Arg)
c.*926A>G (n.*926A>G)
c.*1461A>G (n.*1461A>G)
c.2014A>G (n.2014A>G)
c.1634A>G (p.Gln545Arg)
c.1682A>G (p.Gln561Arg)
c.1778A>G (p.Gln593Arg)
c.1724A>G (p.Gln575Arg)
c.1685A>G (p.Gln562Arg)
18g.33739206A>TCA402176372ASXL3c.1805A>T (p.Gln602Leu)
c.1802A>T (p.Gln601Leu)
c.*926A>T (n.*926A>T)
c.*1461A>T (n.*1461A>T)
c.2014A>T (n.2014A>T)
c.1634A>T (p.Gln545Leu)
c.1682A>T (p.Gln561Leu)
c.1778A>T (p.Gln593Leu)
c.1724A>T (p.Gln575Leu)
c.1685A>T (p.Gln562Leu)
18g.33739206dupCA1139666022ASXL3c.1805dup (p.Leu603AlafsTer9)
c.1802dup (p.Leu602AlafsTer9)
c.*926dup (n.*926dup)
c.*1461dup (n.*1461dup)
c.2014dup (n.2014dup)
c.1634dup (p.Leu546AlafsTer9)
c.1682dup (p.Leu562AlafsTer9)
c.1778dup (p.Leu594AlafsTer9)
c.1724dup (p.Leu576AlafsTer9)
c.1685dup (p.Leu563AlafsTer9)
ClinVar dbSNP
18g.33739207G>ACA503768750ASXL3c.1806G>A (p.Gln602=)
c.1803G>A (p.Gln601=)
c.*927G>A (n.*927G>A)
c.*1462G>A (n.*1462G>A)
c.2015G>A (n.2015G>A)
c.1635G>A (p.Gln545=)
c.1683G>A (p.Gln561=)
c.1779G>A (p.Gln593=)
c.1725G>A (p.Gln575=)
c.1686G>A (p.Gln562=)
18g.33739207G>CCA402176373ASXL3c.1806G>C (p.Gln602His)
c.1803G>C (p.Gln601His)
c.*927G>C (n.*927G>C)
c.*1462G>C (n.*1462G>C)
c.2015G>C (n.2015G>C)
c.1635G>C (p.Gln545His)
c.1683G>C (p.Gln561His)
c.1779G>C (p.Gln593His)
c.1725G>C (p.Gln575His)
c.1686G>C (p.Gln562His)
18g.33739207G>TCA402176374ASXL3c.1806G>T (p.Gln602His)
c.1803G>T (p.Gln601His)
c.*927G>T (n.*927G>T)
c.*1462G>T (n.*1462G>T)
c.2015G>T (n.2015G>T)
c.1635G>T (p.Gln545His)
c.1683G>T (p.Gln561His)
c.1779G>T (p.Gln593His)
c.1725G>T (p.Gln575His)
c.1686G>T (p.Gln562His)
COSMIC COSMIC
18g.33739208C>ACA402176375ASXL3c.1807C>A (p.Leu603Ile)
c.1804C>A (p.Leu602Ile)
c.*928C>A (n.*928C>A)
c.*1463C>A (n.*1463C>A)
c.2016C>A (n.2016C>A)
c.1636C>A (p.Leu546Ile)
c.1684C>A (p.Leu562Ile)
c.1780C>A (p.Leu594Ile)
c.1726C>A (p.Leu576Ile)
c.1687C>A (p.Leu563Ile)
18g.33739208C>GCA402176377ASXL3c.1807C>G (p.Leu603Val)
c.1804C>G (p.Leu602Val)
c.*928C>G (n.*928C>G)
c.*1463C>G (n.*1463C>G)
c.2016C>G (n.2016C>G)
c.1636C>G (p.Leu546Val)
c.1684C>G (p.Leu562Val)
c.1780C>G (p.Leu594Val)
c.1726C>G (p.Leu576Val)
c.1687C>G (p.Leu563Val)
18g.33739208C>TCA402176376ASXL3c.1807C>T (p.Leu603Phe)
c.1804C>T (p.Leu602Phe)
c.*928C>T (n.*928C>T)
c.*1463C>T (n.*1463C>T)
c.2016C>T (n.2016C>T)
c.1636C>T (p.Leu546Phe)
c.1684C>T (p.Leu562Phe)
c.1780C>T (p.Leu594Phe)
c.1726C>T (p.Leu576Phe)
c.1687C>T (p.Leu563Phe)
gnomAD v4
18g.33739209T>ACA402176378ASXL3c.1808T>A (p.Leu603His)
c.1805T>A (p.Leu602His)
c.*929T>A (n.*929T>A)
c.*1464T>A (n.*1464T>A)
c.2017T>A (n.2017T>A)
c.1637T>A (p.Leu546His)
c.1685T>A (p.Leu562His)
c.1781T>A (p.Leu594His)
c.1727T>A (p.Leu576His)
c.1688T>A (p.Leu563His)
18g.33739209T>CCA402176379ASXL3c.1808T>C (p.Leu603Pro)
c.1805T>C (p.Leu602Pro)
c.*929T>C (n.*929T>C)
c.*1464T>C (n.*1464T>C)
c.2017T>C (n.2017T>C)
c.1637T>C (p.Leu546Pro)
c.1685T>C (p.Leu562Pro)
c.1781T>C (p.Leu594Pro)
c.1727T>C (p.Leu576Pro)
c.1688T>C (p.Leu563Pro)
dbSNP gnomAD v3 gnomAD v4
18g.33739209T>GCA402176380ASXL3c.1808T>G (p.Leu603Arg)
c.1805T>G (p.Leu602Arg)
c.*929T>G (n.*929T>G)
c.*1464T>G (n.*1464T>G)
c.2017T>G (n.2017T>G)
c.1637T>G (p.Leu546Arg)
c.1685T>G (p.Leu562Arg)
c.1781T>G (p.Leu594Arg)
c.1727T>G (p.Leu576Arg)
c.1688T>G (p.Leu563Arg)
18g.33739209T=CA2294855870ASXL3c.1808T= (p.Leu603=)
c.1805T= (p.Leu602=)
c.*929T= (n.*929T=)
c.*1464T= (n.*1464T=)
c.2017T= (n.2017T=)
c.1637T= (p.Leu546=)
c.1685T= (p.Leu562=)
c.1781T= (p.Leu594=)
c.1727T= (p.Leu576=)
c.1688T= (p.Leu563=)
18g.33739210T>ACA503768755ASXL3c.1809T>A (p.Leu603=)
c.1806T>A (p.Leu602=)
c.*930T>A (n.*930T>A)
c.*1465T>A (n.*1465T>A)
c.2018T>A (n.2018T>A)
c.1638T>A (p.Leu546=)
c.1686T>A (p.Leu562=)
c.1782T>A (p.Leu594=)
c.1728T>A (p.Leu576=)
c.1689T>A (p.Leu563=)
18g.33739210T>CCA503768756ASXL3c.1809T>C (p.Leu603=)
c.1806T>C (p.Leu602=)
c.*930T>C (n.*930T>C)
c.*1465T>C (n.*1465T>C)
c.2018T>C (n.2018T>C)
c.1638T>C (p.Leu546=)
c.1686T>C (p.Leu562=)
c.1782T>C (p.Leu594=)
c.1728T>C (p.Leu576=)
c.1689T>C (p.Leu563=)
18g.33739210T>GCA503768758ASXL3c.1809T>G (p.Leu603=)
c.1806T>G (p.Leu602=)
c.*930T>G (n.*930T>G)
c.*1465T>G (n.*1465T>G)
c.2018T>G (n.2018T>G)
c.1638T>G (p.Leu546=)
c.1686T>G (p.Leu562=)
c.1782T>G (p.Leu594=)
c.1728T>G (p.Leu576=)
c.1689T>G (p.Leu563=)
gnomAD v4
18g.33739211T>ACA402176381ASXL3c.1810T>A (p.Ser604Thr)
c.1807T>A (p.Ser603Thr)
c.*931T>A (n.*931T>A)
c.*1466T>A (n.*1466T>A)
c.2019T>A (n.2019T>A)
c.1639T>A (p.Ser547Thr)
c.1687T>A (p.Ser563Thr)
c.1783T>A (p.Ser595Thr)
c.1729T>A (p.Ser577Thr)
c.1690T>A (p.Ser564Thr)
dbSNP gnomAD v4
18g.33739211T>CCA402176382ASXL3c.1810T>C (p.Ser604Pro)
c.1807T>C (p.Ser603Pro)
c.*931T>C (n.*931T>C)
c.*1466T>C (n.*1466T>C)
c.2019T>C (n.2019T>C)
c.1639T>C (p.Ser547Pro)
c.1687T>C (p.Ser563Pro)
c.1783T>C (p.Ser595Pro)
c.1729T>C (p.Ser577Pro)
c.1690T>C (p.Ser564Pro)
18g.33739211T>GCA8933814ASXL3c.1810T>G (p.Ser604Ala)
c.1807T>G (p.Ser603Ala)
c.*931T>G (n.*931T>G)
c.*1466T>G (n.*1466T>G)
c.2019T>G (n.2019T>G)
c.1639T>G (p.Ser547Ala)
c.1687T>G (p.Ser563Ala)
c.1783T>G (p.Ser595Ala)
c.1729T>G (p.Ser577Ala)
c.1690T>G (p.Ser564Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739211T=CA2294855871ASXL3c.1810T= (p.Ser604=)
c.1807T= (p.Ser603=)
c.*931T= (n.*931T=)
c.*1466T= (n.*1466T=)
c.2019T= (n.2019T=)
c.1639T= (p.Ser547=)
c.1687T= (p.Ser563=)
c.1783T= (p.Ser595=)
c.1729T= (p.Ser577=)
c.1690T= (p.Ser564=)
18g.33739212C>ACA402176383ASXL3c.1811C>A (p.Ser604Ter)
c.1808C>A (p.Ser603Ter)
c.*932C>A (n.*932C>A)
c.*1467C>A (n.*1467C>A)
c.2020C>A (n.2020C>A)
c.1640C>A (p.Ser547Ter)
c.1688C>A (p.Ser563Ter)
c.1784C>A (p.Ser595Ter)
c.1730C>A (p.Ser577Ter)
c.1691C>A (p.Ser564Ter)
dbSNP gnomAD v4
18g.33739212C=CA2294855872ASXL3c.1811C= (p.Ser604=)
c.1808C= (p.Ser603=)
c.*932C= (n.*932C=)
c.*1467C= (n.*1467C=)
c.2020C= (n.2020C=)
c.1640C= (p.Ser547=)
c.1688C= (p.Ser563=)
c.1784C= (p.Ser595=)
c.1730C= (p.Ser577=)
c.1691C= (p.Ser564=)
18g.33739212C>GCA402176384ASXL3c.1811C>G (p.Ser604Ter)
c.1808C>G (p.Ser603Ter)
c.*932C>G (n.*932C>G)
c.*1467C>G (n.*1467C>G)
c.2020C>G (n.2020C>G)
c.1640C>G (p.Ser547Ter)
c.1688C>G (p.Ser563Ter)
c.1784C>G (p.Ser595Ter)
c.1730C>G (p.Ser577Ter)
c.1691C>G (p.Ser564Ter)
ClinVar dbSNP
18g.33739212C>TCA8933815ASXL3c.1811C>T (p.Ser604Leu)
c.1808C>T (p.Ser603Leu)
c.*932C>T (n.*932C>T)
c.*1467C>T (n.*1467C>T)
c.2020C>T (n.2020C>T)
c.1640C>T (p.Ser547Leu)
c.1688C>T (p.Ser563Leu)
c.1784C>T (p.Ser595Leu)
c.1730C>T (p.Ser577Leu)
c.1691C>T (p.Ser564Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739213A>CCA503768761ASXL3c.1812A>C (p.Ser604=)
c.1809A>C (p.Ser603=)
c.*933A>C (n.*933A>C)
c.*1468A>C (n.*1468A>C)
c.2021A>C (n.2021A>C)
c.1641A>C (p.Ser547=)
c.1689A>C (p.Ser563=)
c.1785A>C (p.Ser595=)
c.1731A>C (p.Ser577=)
c.1692A>C (p.Ser564=)
18g.33739213A>GCA503768765ASXL3c.1812A>G (p.Ser604=)
c.1809A>G (p.Ser603=)
c.*933A>G (n.*933A>G)
c.*1468A>G (n.*1468A>G)
c.2021A>G (n.2021A>G)
c.1641A>G (p.Ser547=)
c.1689A>G (p.Ser563=)
c.1785A>G (p.Ser595=)
c.1731A>G (p.Ser577=)
c.1692A>G (p.Ser564=)
18g.33739213A>TCA503768763ASXL3c.1812A>T (p.Ser604=)
c.1809A>T (p.Ser603=)
c.*933A>T (n.*933A>T)
c.*1468A>T (n.*1468A>T)
c.2021A>T (n.2021A>T)
c.1641A>T (p.Ser547=)
c.1689A>T (p.Ser563=)
c.1785A>T (p.Ser595=)
c.1731A>T (p.Ser577=)
c.1692A>T (p.Ser564=)
COSMIC COSMIC
18g.33739214G>ACA402176385ASXL3c.1813G>A (p.Glu605Lys)
c.1810G>A (p.Glu604Lys)
c.*934G>A (n.*934G>A)
c.*1469G>A (n.*1469G>A)
c.2022G>A (n.2022G>A)
c.1642G>A (p.Glu548Lys)
c.1690G>A (p.Glu564Lys)
c.1786G>A (p.Glu596Lys)
c.1732G>A (p.Glu578Lys)
c.1693G>A (p.Glu565Lys)
18g.33739214G>CCA402176386ASXL3c.1813G>C (p.Glu605Gln)
c.1810G>C (p.Glu604Gln)
c.*934G>C (n.*934G>C)
c.*1469G>C (n.*1469G>C)
c.2022G>C (n.2022G>C)
c.1642G>C (p.Glu548Gln)
c.1690G>C (p.Glu564Gln)
c.1786G>C (p.Glu596Gln)
c.1732G>C (p.Glu578Gln)
c.1693G>C (p.Glu565Gln)
18g.33739214G>TCA402176387ASXL3c.1813G>T (p.Glu605Ter)
c.1810G>T (p.Glu604Ter)
c.*934G>T (n.*934G>T)
c.*1469G>T (n.*1469G>T)
c.2022G>T (n.2022G>T)
c.1642G>T (p.Glu548Ter)
c.1690G>T (p.Glu564Ter)
c.1786G>T (p.Glu596Ter)
c.1732G>T (p.Glu578Ter)
c.1693G>T (p.Glu565Ter)
18g.33739215A>CCA402176388ASXL3c.1814A>C (p.Glu605Ala)
c.1811A>C (p.Glu604Ala)
c.*935A>C (n.*935A>C)
c.*1470A>C (n.*1470A>C)
c.2023A>C (n.2023A>C)
c.1643A>C (p.Glu548Ala)
c.1691A>C (p.Glu564Ala)
c.1787A>C (p.Glu596Ala)
c.1733A>C (p.Glu578Ala)
c.1694A>C (p.Glu565Ala)
18g.33739215A>GCA402176390ASXL3c.1814A>G (p.Glu605Gly)
c.1811A>G (p.Glu604Gly)
c.*935A>G (n.*935A>G)
c.*1470A>G (n.*1470A>G)
c.2023A>G (n.2023A>G)
c.1643A>G (p.Glu548Gly)
c.1691A>G (p.Glu564Gly)
c.1787A>G (p.Glu596Gly)
c.1733A>G (p.Glu578Gly)
c.1694A>G (p.Glu565Gly)
gnomAD v4
18g.33739215A>TCA402176389ASXL3c.1814A>T (p.Glu605Val)
c.1811A>T (p.Glu604Val)
c.*935A>T (n.*935A>T)
c.*1470A>T (n.*1470A>T)
c.2023A>T (n.2023A>T)
c.1643A>T (p.Glu548Val)
c.1691A>T (p.Glu564Val)
c.1787A>T (p.Glu596Val)
c.1733A>T (p.Glu578Val)
c.1694A>T (p.Glu565Val)
18g.33739216A>CCA402176391ASXL3c.1815A>C (p.Glu605Asp)
c.1812A>C (p.Glu604Asp)
c.*936A>C (n.*936A>C)
c.*1471A>C (n.*1471A>C)
c.2024A>C (n.2024A>C)
c.1644A>C (p.Glu548Asp)
c.1692A>C (p.Glu564Asp)
c.1788A>C (p.Glu596Asp)
c.1734A>C (p.Glu578Asp)
c.1695A>C (p.Glu565Asp)
18g.33739216A>GCA503768769ASXL3c.1815A>G (p.Glu605=)
c.1812A>G (p.Glu604=)
c.*936A>G (n.*936A>G)
c.*1471A>G (n.*1471A>G)
c.2024A>G (n.2024A>G)
c.1644A>G (p.Glu548=)
c.1692A>G (p.Glu564=)
c.1788A>G (p.Glu596=)
c.1734A>G (p.Glu578=)
c.1695A>G (p.Glu565=)
18g.33739216A>TCA402176392ASXL3c.1815A>T (p.Glu605Asp)
c.1812A>T (p.Glu604Asp)
c.*936A>T (n.*936A>T)
c.*1471A>T (n.*1471A>T)
c.2024A>T (n.2024A>T)
c.1644A>T (p.Glu548Asp)
c.1692A>T (p.Glu564Asp)
c.1788A>T (p.Glu596Asp)
c.1734A>T (p.Glu578Asp)
c.1695A>T (p.Glu565Asp)
18g.33739217A>CCA402176393ASXL3c.1816A>C (p.Asn606His)
c.1813A>C (p.Asn605His)
c.*937A>C (n.*937A>C)
c.*1472A>C (n.*1472A>C)
c.2025A>C (n.2025A>C)
c.1645A>C (p.Asn549His)
c.1693A>C (p.Asn565His)
c.1789A>C (p.Asn597His)
c.1735A>C (p.Asn579His)
c.1696A>C (p.Asn566His)
18g.33739217A>GCA402176394ASXL3c.1816A>G (p.Asn606Asp)
c.1813A>G (p.Asn605Asp)
c.*937A>G (n.*937A>G)
c.*1472A>G (n.*1472A>G)
c.2025A>G (n.2025A>G)
c.1645A>G (p.Asn549Asp)
c.1693A>G (p.Asn565Asp)
c.1789A>G (p.Asn597Asp)
c.1735A>G (p.Asn579Asp)
c.1696A>G (p.Asn566Asp)
18g.33739217A>TCA402176395ASXL3c.1816A>T (p.Asn606Tyr)
c.1813A>T (p.Asn605Tyr)
c.*937A>T (n.*937A>T)
c.*1472A>T (n.*1472A>T)
c.2025A>T (n.2025A>T)
c.1645A>T (p.Asn549Tyr)
c.1693A>T (p.Asn565Tyr)
c.1789A>T (p.Asn597Tyr)
c.1735A>T (p.Asn579Tyr)
c.1696A>T (p.Asn566Tyr)
18g.33739218A=CA2294855873ASXL3c.1817A= (p.Asn606=)
c.1814A= (p.Asn605=)
c.*938A= (n.*938A=)
c.*1473A= (n.*1473A=)
c.2026A= (n.2026A=)
c.1646A= (p.Asn549=)
c.1694A= (p.Asn565=)
c.1790A= (p.Asn597=)
c.1736A= (p.Asn579=)
c.1697A= (p.Asn566=)
18g.33739218A>CCA402176396ASXL3c.1817A>C (p.Asn606Thr)
c.1814A>C (p.Asn605Thr)
c.*938A>C (n.*938A>C)
c.*1473A>C (n.*1473A>C)
c.2026A>C (n.2026A>C)
c.1646A>C (p.Asn549Thr)
c.1694A>C (p.Asn565Thr)
c.1790A>C (p.Asn597Thr)
c.1736A>C (p.Asn579Thr)
c.1697A>C (p.Asn566Thr)
18g.33739218A>GCA402176397ASXL3c.1817A>G (p.Asn606Ser)
c.1814A>G (p.Asn605Ser)
c.*938A>G (n.*938A>G)
c.*1473A>G (n.*1473A>G)
c.2026A>G (n.2026A>G)
c.1646A>G (p.Asn549Ser)
c.1694A>G (p.Asn565Ser)
c.1790A>G (p.Asn597Ser)
c.1736A>G (p.Asn579Ser)
c.1697A>G (p.Asn566Ser)
dbSNP
18g.33739218A>TCA402176398ASXL3c.1817A>T (p.Asn606Ile)
c.1814A>T (p.Asn605Ile)
c.*938A>T (n.*938A>T)
c.*1473A>T (n.*1473A>T)
c.2026A>T (n.2026A>T)
c.1646A>T (p.Asn549Ile)
c.1694A>T (p.Asn565Ile)
c.1790A>T (p.Asn597Ile)
c.1736A>T (p.Asn579Ile)
c.1697A>T (p.Asn566Ile)
gnomAD v4
18g.33739219T>ACA402176399ASXL3c.1818T>A (p.Asn606Lys)
c.1815T>A (p.Asn605Lys)
c.*939T>A (n.*939T>A)
c.*1474T>A (n.*1474T>A)
c.2027T>A (n.2027T>A)
c.1647T>A (p.Asn549Lys)
c.1695T>A (p.Asn565Lys)
c.1791T>A (p.Asn597Lys)
c.1737T>A (p.Asn579Lys)
c.1698T>A (p.Asn566Lys)
18g.33739219T>CCA503768774ASXL3c.1818T>C (p.Asn606=)
c.1815T>C (p.Asn605=)
c.*939T>C (n.*939T>C)
c.*1474T>C (n.*1474T>C)
c.2027T>C (n.2027T>C)
c.1647T>C (p.Asn549=)
c.1695T>C (p.Asn565=)
c.1791T>C (p.Asn597=)
c.1737T>C (p.Asn579=)
c.1698T>C (p.Asn566=)
18g.33739219T>GCA402176400ASXL3c.1818T>G (p.Asn606Lys)
c.1815T>G (p.Asn605Lys)
c.*939T>G (n.*939T>G)
c.*1474T>G (n.*1474T>G)
c.2027T>G (n.2027T>G)
c.1647T>G (p.Asn549Lys)
c.1695T>G (p.Asn565Lys)
c.1791T>G (p.Asn597Lys)
c.1737T>G (p.Asn579Lys)
c.1698T>G (p.Asn566Lys)
18g.33739220G>ACA402176401ASXL3c.1819G>A (p.Ala607Thr)
c.1816G>A (p.Ala606Thr)
c.*940G>A (n.*940G>A)
c.*1475G>A (n.*1475G>A)
c.2028G>A (n.2028G>A)
c.1648G>A (p.Ala550Thr)
c.1696G>A (p.Ala566Thr)
c.1792G>A (p.Ala598Thr)
c.1738G>A (p.Ala580Thr)
c.1699G>A (p.Ala567Thr)
18g.33739220G>CCA402176402ASXL3c.1819G>C (p.Ala607Pro)
c.1816G>C (p.Ala606Pro)
c.*940G>C (n.*940G>C)
c.*1475G>C (n.*1475G>C)
c.2028G>C (n.2028G>C)
c.1648G>C (p.Ala550Pro)
c.1696G>C (p.Ala566Pro)
c.1792G>C (p.Ala598Pro)
c.1738G>C (p.Ala580Pro)
c.1699G>C (p.Ala567Pro)
gnomAD v4
18g.33739220G=CA2294855874ASXL3c.1819G= (p.Ala607=)
c.1816G= (p.Ala606=)
c.*940G= (n.*940G=)
c.*1475G= (n.*1475G=)
c.2028G= (n.2028G=)
c.1648G= (p.Ala550=)
c.1696G= (p.Ala566=)
c.1792G= (p.Ala598=)
c.1738G= (p.Ala580=)
c.1699G= (p.Ala567=)
18g.33739220G>TCA8933816ASXL3c.1819G>T (p.Ala607Ser)
c.1816G>T (p.Ala606Ser)
c.*940G>T (n.*940G>T)
c.*1475G>T (n.*1475G>T)
c.2028G>T (n.2028G>T)
c.1648G>T (p.Ala550Ser)
c.1696G>T (p.Ala566Ser)
c.1792G>T (p.Ala598Ser)
c.1738G>T (p.Ala580Ser)
c.1699G>T (p.Ala567Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33739221C>ACA402176403ASXL3c.1820C>A (p.Ala607Asp)
c.1817C>A (p.Ala606Asp)
c.*941C>A (n.*941C>A)
c.*1476C>A (n.*1476C>A)
c.2029C>A (n.2029C>A)
c.1649C>A (p.Ala550Asp)
c.1697C>A (p.Ala566Asp)
c.1793C>A (p.Ala598Asp)
c.1739C>A (p.Ala580Asp)
c.1700C>A (p.Ala567Asp)
18g.33739221C>GCA402176404ASXL3c.1820C>G (p.Ala607Gly)
c.1817C>G (p.Ala606Gly)
c.*941C>G (n.*941C>G)
c.*1476C>G (n.*1476C>G)
c.2029C>G (n.2029C>G)
c.1649C>G (p.Ala550Gly)
c.1697C>G (p.Ala566Gly)
c.1793C>G (p.Ala598Gly)
c.1739C>G (p.Ala580Gly)
c.1700C>G (p.Ala567Gly)
18g.33739221C>TCA402176405ASXL3c.1820C>T (p.Ala607Val)
c.1817C>T (p.Ala606Val)
c.*941C>T (n.*941C>T)
c.*1476C>T (n.*1476C>T)
c.2029C>T (n.2029C>T)
c.1649C>T (p.Ala550Val)
c.1697C>T (p.Ala566Val)
c.1793C>T (p.Ala598Val)
c.1739C>T (p.Ala580Val)
c.1700C>T (p.Ala567Val)
gnomAD v4
18g.33739222C>ACA503768777ASXL3c.1821C>A (p.Ala607=)
c.1818C>A (p.Ala606=)
c.*942C>A (n.*942C>A)
c.*1477C>A (n.*1477C>A)
c.2030C>A (n.2030C>A)
c.1650C>A (p.Ala550=)
c.1698C>A (p.Ala566=)
c.1794C>A (p.Ala598=)
c.1740C>A (p.Ala580=)
c.1701C>A (p.Ala567=)
gnomAD v4
18g.33739222C>GCA503768779ASXL3c.1821C>G (p.Ala607=)
c.1818C>G (p.Ala606=)
c.*942C>G (n.*942C>G)
c.*1477C>G (n.*1477C>G)
c.2030C>G (n.2030C>G)
c.1650C>G (p.Ala550=)
c.1698C>G (p.Ala566=)
c.1794C>G (p.Ala598=)
c.1740C>G (p.Ala580=)
c.1701C>G (p.Ala567=)
18g.33739222C>TCA503768781ASXL3c.1821C>T (p.Ala607=)
c.1818C>T (p.Ala606=)
c.*942C>T (n.*942C>T)
c.*1477C>T (n.*1477C>T)
c.2030C>T (n.2030C>T)
c.1650C>T (p.Ala550=)
c.1698C>T (p.Ala566=)
c.1794C>T (p.Ala598=)
c.1740C>T (p.Ala580=)
c.1701C>T (p.Ala567=)
18g.33739223T>ACA402176406ASXL3c.1822T>A (p.Cys608Ser)
c.1819T>A (p.Cys607Ser)
c.*943T>A (n.*943T>A)
c.*1478T>A (n.*1478T>A)
c.2031T>A (n.2031T>A)
c.1651T>A (p.Cys551Ser)
c.1699T>A (p.Cys567Ser)
c.1795T>A (p.Cys599Ser)
c.1741T>A (p.Cys581Ser)
c.1702T>A (p.Cys568Ser)
18g.33739223T>CCA402176407ASXL3c.1822T>C (p.Cys608Arg)
c.1819T>C (p.Cys607Arg)
c.*943T>C (n.*943T>C)
c.*1478T>C (n.*1478T>C)
c.2031T>C (n.2031T>C)
c.1651T>C (p.Cys551Arg)
c.1699T>C (p.Cys567Arg)
c.1795T>C (p.Cys599Arg)
c.1741T>C (p.Cys581Arg)
c.1702T>C (p.Cys568Arg)
18g.33739223T>GCA8933817ASXL3c.1822T>G (p.Cys608Gly)
c.1819T>G (p.Cys607Gly)
c.*943T>G (n.*943T>G)
c.*1478T>G (n.*1478T>G)
c.2031T>G (n.2031T>G)
c.1651T>G (p.Cys551Gly)
c.1699T>G (p.Cys567Gly)
c.1795T>G (p.Cys599Gly)
c.1741T>G (p.Cys581Gly)
c.1702T>G (p.Cys568Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739223T=CA2294855875ASXL3c.1822T= (p.Cys608=)
c.1819T= (p.Cys607=)
c.*943T= (n.*943T=)
c.*1478T= (n.*1478T=)
c.2031T= (n.2031T=)
c.1651T= (p.Cys551=)
c.1699T= (p.Cys567=)
c.1795T= (p.Cys599=)
c.1741T= (p.Cys581=)
c.1702T= (p.Cys568=)
18g.33739224G>ACA402176410ASXL3c.1823G>A (p.Cys608Tyr)
c.1820G>A (p.Cys607Tyr)
c.*944G>A (n.*944G>A)
c.*1479G>A (n.*1479G>A)
c.2032G>A (n.2032G>A)
c.1652G>A (p.Cys551Tyr)
c.1700G>A (p.Cys567Tyr)
c.1796G>A (p.Cys599Tyr)
c.1742G>A (p.Cys581Tyr)
c.1703G>A (p.Cys568Tyr)
18g.33739224G>CCA402176408ASXL3c.1823G>C (p.Cys608Ser)
c.1820G>C (p.Cys607Ser)
c.*944G>C (n.*944G>C)
c.*1479G>C (n.*1479G>C)
c.2032G>C (n.2032G>C)
c.1652G>C (p.Cys551Ser)
c.1700G>C (p.Cys567Ser)
c.1796G>C (p.Cys599Ser)
c.1742G>C (p.Cys581Ser)
c.1703G>C (p.Cys568Ser)
gnomAD v3 gnomAD v4
18g.33739224G>TCA402176409ASXL3c.1823G>T (p.Cys608Phe)
c.1820G>T (p.Cys607Phe)
c.*944G>T (n.*944G>T)
c.*1479G>T (n.*1479G>T)
c.2032G>T (n.2032G>T)
c.1652G>T (p.Cys551Phe)
c.1700G>T (p.Cys567Phe)
c.1796G>T (p.Cys599Phe)
c.1742G>T (p.Cys581Phe)
c.1703G>T (p.Cys568Phe)
18g.33739224_33739225delinsGCCA2294855876ASXL3c.1823_1824delinsGC (p.Cys608=)
c.1820_1821delinsGC (p.Cys607=)
c.*944_*945delinsGC (n.*944_*945delinsGC)
c.*1479_*1480delinsGC (n.*1479_*1480delinsGC)
c.2032_2033delinsGC (n.2032_2033delinsGC)
c.1652_1653delinsGC (p.Cys551=)
c.1700_1701delinsGC (p.Cys567=)
c.1796_1797delinsGC (p.Cys599=)
c.1742_1743delinsGC (p.Cys581=)
c.1703_1704delinsGC (p.Cys568=)
18g.33739225delCA1139666023ASXL3c.1824del (p.Cys608Ter)
c.1821del (p.Cys607Ter)
c.*945del (n.*945del)
c.*1480del (n.*1480del)
c.2033del (n.2033del)
c.1653del (p.Cys551Ter)
c.1701del (p.Cys567Ter)
c.1797del (p.Cys599Ter)
c.1743del (p.Cys581Ter)
c.1704del (p.Cys568Ter)
ClinVar dbSNP
18g.33739225C>ACA402176411ASXL3c.1824C>A (p.Cys608Ter)
c.1821C>A (p.Cys607Ter)
c.*945C>A (n.*945C>A)
c.*1480C>A (n.*1480C>A)
c.2033C>A (n.2033C>A)
c.1653C>A (p.Cys551Ter)
c.1701C>A (p.Cys567Ter)
c.1797C>A (p.Cys599Ter)
c.1743C>A (p.Cys581Ter)
c.1704C>A (p.Cys568Ter)
18g.33739225C>GCA402176412ASXL3c.1824C>G (p.Cys608Trp)
c.1821C>G (p.Cys607Trp)
c.*945C>G (n.*945C>G)
c.*1480C>G (n.*1480C>G)
c.2033C>G (n.2033C>G)
c.1653C>G (p.Cys551Trp)
c.1701C>G (p.Cys567Trp)
c.1797C>G (p.Cys599Trp)
c.1743C>G (p.Cys581Trp)
c.1704C>G (p.Cys568Trp)
18g.33739225C>TCA503768787ASXL3c.1824C>T (p.Cys608=)
c.1821C>T (p.Cys607=)
c.*945C>T (n.*945C>T)
c.*1480C>T (n.*1480C>T)
c.2033C>T (n.2033C>T)
c.1653C>T (p.Cys551=)
c.1701C>T (p.Cys567=)
c.1797C>T (p.Cys599=)
c.1743C>T (p.Cys581=)
c.1704C>T (p.Cys568=)
gnomAD v4
18g.33739226A>CCA402176413ASXL3c.1825A>C (p.Ile609Leu)
c.1822A>C (p.Ile608Leu)
c.*946A>C (n.*946A>C)
c.*1481A>C (n.*1481A>C)
c.2034A>C (n.2034A>C)
c.1654A>C (p.Ile552Leu)
c.1702A>C (p.Ile568Leu)
c.1798A>C (p.Ile600Leu)
c.1744A>C (p.Ile582Leu)
c.1705A>C (p.Ile569Leu)
18g.33739226A>GCA402176414ASXL3c.1825A>G (p.Ile609Val)
c.1822A>G (p.Ile608Val)
c.*946A>G (n.*946A>G)
c.*1481A>G (n.*1481A>G)
c.2034A>G (n.2034A>G)
c.1654A>G (p.Ile552Val)
c.1702A>G (p.Ile568Val)
c.1798A>G (p.Ile600Val)
c.1744A>G (p.Ile582Val)
c.1705A>G (p.Ile569Val)
18g.33739226A>TCA402176415ASXL3c.1825A>T (p.Ile609Phe)
c.1822A>T (p.Ile608Phe)
c.*946A>T (n.*946A>T)
c.*1481A>T (n.*1481A>T)
c.2034A>T (n.2034A>T)
c.1654A>T (p.Ile552Phe)
c.1702A>T (p.Ile568Phe)
c.1798A>T (p.Ile600Phe)
c.1744A>T (p.Ile582Phe)
c.1705A>T (p.Ile569Phe)
18g.33739227T>ACA297787038ASXL3c.1826T>A (p.Ile609Asn)
c.1823T>A (p.Ile608Asn)
c.*947T>A (n.*947T>A)
c.*1482T>A (n.*1482T>A)
c.2035T>A (n.2035T>A)
c.1655T>A (p.Ile552Asn)
c.1703T>A (p.Ile568Asn)
c.1799T>A (p.Ile600Asn)
c.1745T>A (p.Ile582Asn)
c.1706T>A (p.Ile569Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33739227T>CCA402176418ASXL3c.1826T>C (p.Ile609Thr)
c.1823T>C (p.Ile608Thr)
c.*947T>C (n.*947T>C)
c.*1482T>C (n.*1482T>C)
c.2035T>C (n.2035T>C)
c.1655T>C (p.Ile552Thr)
c.1703T>C (p.Ile568Thr)
c.1799T>C (p.Ile600Thr)
c.1745T>C (p.Ile582Thr)
c.1706T>C (p.Ile569Thr)
18g.33739227T>GCA402176416ASXL3c.1826T>G (p.Ile609Ser)
c.1823T>G (p.Ile608Ser)
c.*947T>G (n.*947T>G)
c.*1482T>G (n.*1482T>G)
c.2035T>G (n.2035T>G)
c.1655T>G (p.Ile552Ser)
c.1703T>G (p.Ile568Ser)
c.1799T>G (p.Ile600Ser)
c.1745T>G (p.Ile582Ser)
c.1706T>G (p.Ile569Ser)
18g.33739227T=CA2294855877ASXL3c.1826T= (p.Ile609=)
c.1823T= (p.Ile608=)
c.*947T= (n.*947T=)
c.*1482T= (n.*1482T=)
c.2035T= (n.2035T=)
c.1655T= (p.Ile552=)
c.1703T= (p.Ile568=)
c.1799T= (p.Ile600=)
c.1745T= (p.Ile582=)
c.1706T= (p.Ile569=)
18g.33739228C>ACA503768790ASXL3c.1827C>A (p.Ile609=)
c.1824C>A (p.Ile608=)
c.*948C>A (n.*948C>A)
c.*1483C>A (n.*1483C>A)
c.2036C>A (n.2036C>A)
c.1656C>A (p.Ile552=)
c.1704C>A (p.Ile568=)
c.1800C>A (p.Ile600=)
c.1746C>A (p.Ile582=)
c.1707C>A (p.Ile569=)
gnomAD v4
18g.33739228C=CA2294855878ASXL3c.1827C= (p.Ile609=)
c.1824C= (p.Ile608=)
c.*948C= (n.*948C=)
c.*1483C= (n.*1483C=)
c.2036C= (n.2036C=)
c.1656C= (p.Ile552=)
c.1704C= (p.Ile568=)
c.1800C= (p.Ile600=)
c.1746C= (p.Ile582=)
c.1707C= (p.Ile569=)
18g.33739228C>GCA8933818ASXL3c.1827C>G (p.Ile609Met)
c.1824C>G (p.Ile608Met)
c.*948C>G (n.*948C>G)
c.*1483C>G (n.*1483C>G)
c.2036C>G (n.2036C>G)
c.1656C>G (p.Ile552Met)
c.1704C>G (p.Ile568Met)
c.1800C>G (p.Ile600Met)
c.1746C>G (p.Ile582Met)
c.1707C>G (p.Ile569Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33739228C>TCA503768791ASXL3c.1827C>T (p.Ile609=)
c.1824C>T (p.Ile608=)
c.*948C>T (n.*948C>T)
c.*1483C>T (n.*1483C>T)
c.2036C>T (n.2036C>T)
c.1656C>T (p.Ile552=)
c.1704C>T (p.Ile568=)
c.1800C>T (p.Ile600=)
c.1746C>T (p.Ile582=)
c.1707C>T (p.Ile569=)
gnomAD v4
18g.33739229T>ACA402176422ASXL3c.1828T>A (p.Ser610Thr)
c.1825T>A (p.Ser609Thr)
c.*949T>A (n.*949T>A)
c.*1484T>A (n.*1484T>A)
c.2037T>A (n.2037T>A)
c.1657T>A (p.Ser553Thr)
c.1705T>A (p.Ser569Thr)
c.1801T>A (p.Ser601Thr)
c.1747T>A (p.Ser583Thr)
c.1708T>A (p.Ser570Thr)
18g.33739229T>CCA402176425ASXL3c.1828T>C (p.Ser610Pro)
c.1825T>C (p.Ser609Pro)
c.*949T>C (n.*949T>C)
c.*1484T>C (n.*1484T>C)
c.2037T>C (n.2037T>C)
c.1657T>C (p.Ser553Pro)
c.1705T>C (p.Ser569Pro)
c.1801T>C (p.Ser601Pro)
c.1747T>C (p.Ser583Pro)
c.1708T>C (p.Ser570Pro)
18g.33739229T>GCA402176427ASXL3c.1828T>G (p.Ser610Ala)
c.1825T>G (p.Ser609Ala)
c.*949T>G (n.*949T>G)
c.*1484T>G (n.*1484T>G)
c.2037T>G (n.2037T>G)
c.1657T>G (p.Ser553Ala)
c.1705T>G (p.Ser569Ala)
c.1801T>G (p.Ser601Ala)
c.1747T>G (p.Ser583Ala)
c.1708T>G (p.Ser570Ala)
18g.33739230C>ACA402176431ASXL3c.1829C>A (p.Ser610Tyr)
c.1826C>A (p.Ser609Tyr)
c.*950C>A (n.*950C>A)
c.*1485C>A (n.*1485C>A)
c.2038C>A (n.2038C>A)
c.1658C>A (p.Ser553Tyr)
c.1706C>A (p.Ser569Tyr)
c.1802C>A (p.Ser601Tyr)
c.1748C>A (p.Ser583Tyr)
c.1709C>A (p.Ser570Tyr)
18g.33739230C>GCA402176438ASXL3c.1829C>G (p.Ser610Cys)
c.1826C>G (p.Ser609Cys)
c.*950C>G (n.*950C>G)
c.*1485C>G (n.*1485C>G)
c.2038C>G (n.2038C>G)
c.1658C>G (p.Ser553Cys)
c.1706C>G (p.Ser569Cys)
c.1802C>G (p.Ser601Cys)
c.1748C>G (p.Ser583Cys)
c.1709C>G (p.Ser570Cys)
18g.33739230C>TCA402176441ASXL3c.1829C>T (p.Ser610Phe)
c.1826C>T (p.Ser609Phe)
c.*950C>T (n.*950C>T)
c.*1485C>T (n.*1485C>T)
c.2038C>T (n.2038C>T)
c.1658C>T (p.Ser553Phe)
c.1706C>T (p.Ser569Phe)
c.1802C>T (p.Ser601Phe)
c.1748C>T (p.Ser583Phe)
c.1709C>T (p.Ser570Phe)
gnomAD v4

Number of alleles fetched