Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
18 | g.33739129G>A | CA503768574 | ASXL3 | c.1728G>A (p.Gly576=) c.1725G>A (p.Gly575=) c.*849G>A (n.*849G>A) c.*1384G>A (n.*1384G>A) c.1937G>A (n.1937G>A) c.1557G>A (p.Gly519=) c.1605G>A (p.Gly535=) c.1701G>A (p.Gly567=) c.1647G>A (p.Gly549=) c.1608G>A (p.Gly536=) | gnomAD v4 |
18 | g.33739129G>C | CA503768576 | ASXL3 | c.1728G>C (p.Gly576=) c.1725G>C (p.Gly575=) c.*849G>C (n.*849G>C) c.*1384G>C (n.*1384G>C) c.1937G>C (n.1937G>C) c.1557G>C (p.Gly519=) c.1605G>C (p.Gly535=) c.1701G>C (p.Gly567=) c.1647G>C (p.Gly549=) c.1608G>C (p.Gly536=) | |
18 | g.33739129G= | CA2294855836 | ASXL3 | c.1728G= (p.Gly576=) c.1725G= (p.Gly575=) c.*849G= (n.*849G=) c.*1384G= (n.*1384G=) c.1937G= (n.1937G=) c.1557G= (p.Gly519=) c.1605G= (p.Gly535=) c.1701G= (p.Gly567=) c.1647G= (p.Gly549=) c.1608G= (p.Gly536=) | |
18 | g.33739129G>T | CA8933802 | ASXL3 | c.1728G>T (p.Gly576=) c.1725G>T (p.Gly575=) c.*849G>T (n.*849G>T) c.*1384G>T (n.*1384G>T) c.1937G>T (n.1937G>T) c.1557G>T (p.Gly519=) c.1605G>T (p.Gly535=) c.1701G>T (p.Gly567=) c.1647G>T (p.Gly549=) c.1608G>T (p.Gly536=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739130T>A | CA402176204 | ASXL3 | c.1729T>A (p.Ser577Thr) c.1726T>A (p.Ser576Thr) c.*850T>A (n.*850T>A) c.*1385T>A (n.*1385T>A) c.1938T>A (n.1938T>A) c.1558T>A (p.Ser520Thr) c.1606T>A (p.Ser536Thr) c.1702T>A (p.Ser568Thr) c.1648T>A (p.Ser550Thr) c.1609T>A (p.Ser537Thr) | |
18 | g.33739130T>C | CA402176203 | ASXL3 | c.1729T>C (p.Ser577Pro) c.1726T>C (p.Ser576Pro) c.*850T>C (n.*850T>C) c.*1385T>C (n.*1385T>C) c.1938T>C (n.1938T>C) c.1558T>C (p.Ser520Pro) c.1606T>C (p.Ser536Pro) c.1702T>C (p.Ser568Pro) c.1648T>C (p.Ser550Pro) c.1609T>C (p.Ser537Pro) | |
18 | g.33739130T>G | CA8933803 | ASXL3 | c.1729T>G (p.Ser577Ala) c.1726T>G (p.Ser576Ala) c.*850T>G (n.*850T>G) c.*1385T>G (n.*1385T>G) c.1938T>G (n.1938T>G) c.1558T>G (p.Ser520Ala) c.1606T>G (p.Ser536Ala) c.1702T>G (p.Ser568Ala) c.1648T>G (p.Ser550Ala) c.1609T>G (p.Ser537Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739130T= | CA2294855837 | ASXL3 | c.1729T= (p.Ser577=) c.1726T= (p.Ser576=) c.*850T= (n.*850T=) c.*1385T= (n.*1385T=) c.1938T= (n.1938T=) c.1558T= (p.Ser520=) c.1606T= (p.Ser536=) c.1702T= (p.Ser568=) c.1648T= (p.Ser550=) c.1609T= (p.Ser537=) | |
18 | g.33739132_33739134del | CA2641457188 | ASXL3 | c.1731_1733del (p.Ser578del) c.1728_1730del (p.Ser577del) c.*852_*854del (n.*852_*854del) c.*1387_*1389del (n.*1387_*1389del) c.1940_1942del (n.1940_1942del) c.1560_1562del (p.Ser521del) c.1608_1610del (p.Ser537del) c.1704_1706del (p.Ser569del) c.1650_1652del (p.Ser551del) c.1611_1613del (p.Ser538del) | gnomAD v4 |
18 | g.33739131C>A | CA402176205 | ASXL3 | c.1730C>A (p.Ser577Ter) c.1727C>A (p.Ser576Ter) c.*851C>A (n.*851C>A) c.*1386C>A (n.*1386C>A) c.1939C>A (n.1939C>A) c.1559C>A (p.Ser520Ter) c.1607C>A (p.Ser536Ter) c.1703C>A (p.Ser568Ter) c.1649C>A (p.Ser550Ter) c.1610C>A (p.Ser537Ter) | COSMIC COSMIC |
18 | g.33739131C= | CA2294855838 | ASXL3 | c.1730C= (p.Ser577=) c.1727C= (p.Ser576=) c.*851C= (n.*851C=) c.*1386C= (n.*1386C=) c.1939C= (n.1939C=) c.1559C= (p.Ser520=) c.1607C= (p.Ser536=) c.1703C= (p.Ser568=) c.1649C= (p.Ser550=) c.1610C= (p.Ser537=) | |
18 | g.33739131C>G | CA402176206 | ASXL3 | c.1730C>G (p.Ser577Ter) c.1727C>G (p.Ser576Ter) c.*851C>G (n.*851C>G) c.*1386C>G (n.*1386C>G) c.1939C>G (n.1939C>G) c.1559C>G (p.Ser520Ter) c.1607C>G (p.Ser536Ter) c.1703C>G (p.Ser568Ter) c.1649C>G (p.Ser550Ter) c.1610C>G (p.Ser537Ter) | |
18 | g.33739131C>T | CA402176207 | ASXL3 | c.1730C>T (p.Ser577Leu) c.1727C>T (p.Ser576Leu) c.*851C>T (n.*851C>T) c.*1386C>T (n.*1386C>T) c.1939C>T (n.1939C>T) c.1559C>T (p.Ser520Leu) c.1607C>T (p.Ser536Leu) c.1703C>T (p.Ser568Leu) c.1649C>T (p.Ser550Leu) c.1610C>T (p.Ser537Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.33739132A>C | CA503768579 | ASXL3 | c.1731A>C (p.Ser577=) c.1728A>C (p.Ser576=) c.*852A>C (n.*852A>C) c.*1387A>C (n.*1387A>C) c.1940A>C (n.1940A>C) c.1560A>C (p.Ser520=) c.1608A>C (p.Ser536=) c.1704A>C (p.Ser568=) c.1650A>C (p.Ser550=) c.1611A>C (p.Ser537=) | |
18 | g.33739132A>G | CA503768580 | ASXL3 | c.1731A>G (p.Ser577=) c.1728A>G (p.Ser576=) c.*852A>G (n.*852A>G) c.*1387A>G (n.*1387A>G) c.1940A>G (n.1940A>G) c.1560A>G (p.Ser520=) c.1608A>G (p.Ser536=) c.1704A>G (p.Ser568=) c.1650A>G (p.Ser550=) c.1611A>G (p.Ser537=) | |
18 | g.33739132A>T | CA503768581 | ASXL3 | c.1731A>T (p.Ser577=) c.1728A>T (p.Ser576=) c.*852A>T (n.*852A>T) c.*1387A>T (n.*1387A>T) c.1940A>T (n.1940A>T) c.1560A>T (p.Ser520=) c.1608A>T (p.Ser536=) c.1704A>T (p.Ser568=) c.1650A>T (p.Ser550=) c.1611A>T (p.Ser537=) | |
18 | g.33739132_33739135delinsATCT | CA2294855839 | ASXL3 | c.1731_1734delinsATCT (p.Ser577=) c.1728_1731delinsATCT (p.Ser576=) c.*852_*855delinsATCT (n.*852_*855delinsATCT) c.*1387_*1390delinsATCT (n.*1387_*1390delinsATCT) c.1940_1943delinsATCT (n.1940_1943delinsATCT) c.1560_1563delinsATCT (p.Ser520=) c.1608_1611delinsATCT (p.Ser536=) c.1704_1707delinsATCT (p.Ser568=) c.1650_1653delinsATCT (p.Ser550=) c.1611_1614delinsATCT (p.Ser537=) | |
18 | g.33739133T>A | CA402176208 | ASXL3 | c.1732T>A (p.Ser578Thr) c.1729T>A (p.Ser577Thr) c.*853T>A (n.*853T>A) c.*1388T>A (n.*1388T>A) c.1941T>A (n.1941T>A) c.1561T>A (p.Ser521Thr) c.1609T>A (p.Ser537Thr) c.1705T>A (p.Ser569Thr) c.1651T>A (p.Ser551Thr) c.1612T>A (p.Ser538Thr) | |
18 | g.33739133T>C | CA402176209 | ASXL3 | c.1732T>C (p.Ser578Pro) c.1729T>C (p.Ser577Pro) c.*853T>C (n.*853T>C) c.*1388T>C (n.*1388T>C) c.1941T>C (n.1941T>C) c.1561T>C (p.Ser521Pro) c.1609T>C (p.Ser537Pro) c.1705T>C (p.Ser569Pro) c.1651T>C (p.Ser551Pro) c.1612T>C (p.Ser538Pro) | |
18 | g.33739133T>G | CA402176210 | ASXL3 | c.1732T>G (p.Ser578Ala) c.1729T>G (p.Ser577Ala) c.*853T>G (n.*853T>G) c.*1388T>G (n.*1388T>G) c.1941T>G (n.1941T>G) c.1561T>G (p.Ser521Ala) c.1609T>G (p.Ser537Ala) c.1705T>G (p.Ser569Ala) c.1651T>G (p.Ser551Ala) c.1612T>G (p.Ser538Ala) | |
18 | g.33739136_33739138del | CA8933804 | ASXL3 | c.1735_1737del (p.Ser579del) c.1732_1734del (p.Ser578del) c.*856_*858del (n.*856_*858del) c.*1391_*1393del (n.*1391_*1393del) c.1944_1946del (n.1944_1946del) c.1564_1566del (p.Ser522del) c.1612_1614del (p.Ser538del) c.1708_1710del (p.Ser570del) c.1654_1656del (p.Ser552del) c.1615_1617del (p.Ser539del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739134C>A | CA402176211 | ASXL3 | c.1733C>A (p.Ser578Tyr) c.1730C>A (p.Ser577Tyr) c.*854C>A (n.*854C>A) c.*1389C>A (n.*1389C>A) c.1942C>A (n.1942C>A) c.1562C>A (p.Ser521Tyr) c.1610C>A (p.Ser537Tyr) c.1706C>A (p.Ser569Tyr) c.1652C>A (p.Ser551Tyr) c.1613C>A (p.Ser538Tyr) | |
18 | g.33739134C= | CA2294855840 | ASXL3 | c.1733C= (p.Ser578=) c.1730C= (p.Ser577=) c.*854C= (n.*854C=) c.*1389C= (n.*1389C=) c.1942C= (n.1942C=) c.1562C= (p.Ser521=) c.1610C= (p.Ser537=) c.1706C= (p.Ser569=) c.1652C= (p.Ser551=) c.1613C= (p.Ser538=) | |
18 | g.33739134C>G | CA8933806 | ASXL3 | c.1733C>G (p.Ser578Cys) c.1730C>G (p.Ser577Cys) c.*854C>G (n.*854C>G) c.*1389C>G (n.*1389C>G) c.1942C>G (n.1942C>G) c.1562C>G (p.Ser521Cys) c.1610C>G (p.Ser537Cys) c.1706C>G (p.Ser569Cys) c.1652C>G (p.Ser551Cys) c.1613C>G (p.Ser538Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739134C>T | CA8933805 | ASXL3 | c.1733C>T (p.Ser578Phe) c.1730C>T (p.Ser577Phe) c.*854C>T (n.*854C>T) c.*1389C>T (n.*1389C>T) c.1942C>T (n.1942C>T) c.1562C>T (p.Ser521Phe) c.1610C>T (p.Ser537Phe) c.1706C>T (p.Ser569Phe) c.1652C>T (p.Ser551Phe) c.1613C>T (p.Ser538Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739135T>A | CA503768585 | ASXL3 | c.1734T>A (p.Ser578=) c.1731T>A (p.Ser577=) c.*855T>A (n.*855T>A) c.*1390T>A (n.*1390T>A) c.1943T>A (n.1943T>A) c.1563T>A (p.Ser521=) c.1611T>A (p.Ser537=) c.1707T>A (p.Ser569=) c.1653T>A (p.Ser551=) c.1614T>A (p.Ser538=) | |
18 | g.33739135T>C | CA503768586 | ASXL3 | c.1734T>C (p.Ser578=) c.1731T>C (p.Ser577=) c.*855T>C (n.*855T>C) c.*1390T>C (n.*1390T>C) c.1943T>C (n.1943T>C) c.1563T>C (p.Ser521=) c.1611T>C (p.Ser537=) c.1707T>C (p.Ser569=) c.1653T>C (p.Ser551=) c.1614T>C (p.Ser538=) | |
18 | g.33739135T>G | CA503768588 | ASXL3 | c.1734T>G (p.Ser578=) c.1731T>G (p.Ser577=) c.*855T>G (n.*855T>G) c.*1390T>G (n.*1390T>G) c.1943T>G (n.1943T>G) c.1563T>G (p.Ser521=) c.1611T>G (p.Ser537=) c.1707T>G (p.Ser569=) c.1653T>G (p.Ser551=) c.1614T>G (p.Ser538=) | |
18 | g.33739136T>A | CA402176214 | ASXL3 | c.1735T>A (p.Ser579Thr) c.1732T>A (p.Ser578Thr) c.*856T>A (n.*856T>A) c.*1391T>A (n.*1391T>A) c.1944T>A (n.1944T>A) c.1564T>A (p.Ser522Thr) c.1612T>A (p.Ser538Thr) c.1708T>A (p.Ser570Thr) c.1654T>A (p.Ser552Thr) c.1615T>A (p.Ser539Thr) | |
18 | g.33739136T>C | CA402176212 | ASXL3 | c.1735T>C (p.Ser579Pro) c.1732T>C (p.Ser578Pro) c.*856T>C (n.*856T>C) c.*1391T>C (n.*1391T>C) c.1944T>C (n.1944T>C) c.1564T>C (p.Ser522Pro) c.1612T>C (p.Ser538Pro) c.1708T>C (p.Ser570Pro) c.1654T>C (p.Ser552Pro) c.1615T>C (p.Ser539Pro) | gnomAD v4 |
18 | g.33739136T>G | CA402176213 | ASXL3 | c.1735T>G (p.Ser579Ala) c.1732T>G (p.Ser578Ala) c.*856T>G (n.*856T>G) c.*1391T>G (n.*1391T>G) c.1944T>G (n.1944T>G) c.1564T>G (p.Ser522Ala) c.1612T>G (p.Ser538Ala) c.1708T>G (p.Ser570Ala) c.1654T>G (p.Ser552Ala) c.1615T>G (p.Ser539Ala) | |
18 | g.33739137C>A | CA402176215 | ASXL3 | c.1736C>A (p.Ser579Tyr) c.1733C>A (p.Ser578Tyr) c.*857C>A (n.*857C>A) c.*1392C>A (n.*1392C>A) c.1945C>A (n.1945C>A) c.1565C>A (p.Ser522Tyr) c.1613C>A (p.Ser538Tyr) c.1709C>A (p.Ser570Tyr) c.1655C>A (p.Ser552Tyr) c.1616C>A (p.Ser539Tyr) | |
18 | g.33739137C= | CA2294855841 | ASXL3 | c.1736C= (p.Ser579=) c.1733C= (p.Ser578=) c.*857C= (n.*857C=) c.*1392C= (n.*1392C=) c.1945C= (n.1945C=) c.1565C= (p.Ser522=) c.1613C= (p.Ser538=) c.1709C= (p.Ser570=) c.1655C= (p.Ser552=) c.1616C= (p.Ser539=) | |
18 | g.33739137C>G | CA402176216 | ASXL3 | c.1736C>G (p.Ser579Cys) c.1733C>G (p.Ser578Cys) c.*857C>G (n.*857C>G) c.*1392C>G (n.*1392C>G) c.1945C>G (n.1945C>G) c.1565C>G (p.Ser522Cys) c.1613C>G (p.Ser538Cys) c.1709C>G (p.Ser570Cys) c.1655C>G (p.Ser552Cys) c.1616C>G (p.Ser539Cys) | |
18 | g.33739137C>T | CA8933807 | ASXL3 | c.1736C>T (p.Ser579Phe) c.1733C>T (p.Ser578Phe) c.*857C>T (n.*857C>T) c.*1392C>T (n.*1392C>T) c.1945C>T (n.1945C>T) c.1565C>T (p.Ser522Phe) c.1613C>T (p.Ser538Phe) c.1709C>T (p.Ser570Phe) c.1655C>T (p.Ser552Phe) c.1616C>T (p.Ser539Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739138T>A | CA503768593 | ASXL3 | c.1737T>A (p.Ser579=) c.1734T>A (p.Ser578=) c.*858T>A (n.*858T>A) c.*1393T>A (n.*1393T>A) c.1946T>A (n.1946T>A) c.1566T>A (p.Ser522=) c.1614T>A (p.Ser538=) c.1710T>A (p.Ser570=) c.1656T>A (p.Ser552=) c.1617T>A (p.Ser539=) | |
18 | g.33739138T>C | CA503768594 | ASXL3 | c.1737T>C (p.Ser579=) c.1734T>C (p.Ser578=) c.*858T>C (n.*858T>C) c.*1393T>C (n.*1393T>C) c.1946T>C (n.1946T>C) c.1566T>C (p.Ser522=) c.1614T>C (p.Ser538=) c.1710T>C (p.Ser570=) c.1656T>C (p.Ser552=) c.1617T>C (p.Ser539=) | |
18 | g.33739138T>G | CA503768596 | ASXL3 | c.1737T>G (p.Ser579=) c.1734T>G (p.Ser578=) c.*858T>G (n.*858T>G) c.*1393T>G (n.*1393T>G) c.1946T>G (n.1946T>G) c.1566T>G (p.Ser522=) c.1614T>G (p.Ser538=) c.1710T>G (p.Ser570=) c.1656T>G (p.Ser552=) c.1617T>G (p.Ser539=) | |
18 | g.33739139C>A | CA402176217 | ASXL3 | c.1738C>A (p.Leu580Ile) c.1735C>A (p.Leu579Ile) c.*859C>A (n.*859C>A) c.*1394C>A (n.*1394C>A) c.1947C>A (n.1947C>A) c.1567C>A (p.Leu523Ile) c.1615C>A (p.Leu539Ile) c.1711C>A (p.Leu571Ile) c.1657C>A (p.Leu553Ile) c.1618C>A (p.Leu540Ile) | |
18 | g.33739139C>G | CA402176218 | ASXL3 | c.1738C>G (p.Leu580Val) c.1735C>G (p.Leu579Val) c.*859C>G (n.*859C>G) c.*1394C>G (n.*1394C>G) c.1947C>G (n.1947C>G) c.1567C>G (p.Leu523Val) c.1615C>G (p.Leu539Val) c.1711C>G (p.Leu571Val) c.1657C>G (p.Leu553Val) c.1618C>G (p.Leu540Val) | |
18 | g.33739139C>T | CA503768600 | ASXL3 | c.1738C>T (p.Leu580=) c.1735C>T (p.Leu579=) c.*859C>T (n.*859C>T) c.*1394C>T (n.*1394C>T) c.1947C>T (n.1947C>T) c.1567C>T (p.Leu523=) c.1615C>T (p.Leu539=) c.1711C>T (p.Leu571=) c.1657C>T (p.Leu553=) c.1618C>T (p.Leu540=) | |
18 | g.33739140T>A | CA402176219 | ASXL3 | c.1739T>A (p.Leu580Gln) c.1736T>A (p.Leu579Gln) c.*860T>A (n.*860T>A) c.*1395T>A (n.*1395T>A) c.1948T>A (n.1948T>A) c.1568T>A (p.Leu523Gln) c.1616T>A (p.Leu539Gln) c.1712T>A (p.Leu571Gln) c.1658T>A (p.Leu553Gln) c.1619T>A (p.Leu540Gln) | |
18 | g.33739140T>C | CA402176220 | ASXL3 | c.1739T>C (p.Leu580Pro) c.1736T>C (p.Leu579Pro) c.*860T>C (n.*860T>C) c.*1395T>C (n.*1395T>C) c.1948T>C (n.1948T>C) c.1568T>C (p.Leu523Pro) c.1616T>C (p.Leu539Pro) c.1712T>C (p.Leu571Pro) c.1658T>C (p.Leu553Pro) c.1619T>C (p.Leu540Pro) | |
18 | g.33739140T>G | CA402176221 | ASXL3 | c.1739T>G (p.Leu580Arg) c.1736T>G (p.Leu579Arg) c.*860T>G (n.*860T>G) c.*1395T>G (n.*1395T>G) c.1948T>G (n.1948T>G) c.1568T>G (p.Leu523Arg) c.1616T>G (p.Leu539Arg) c.1712T>G (p.Leu571Arg) c.1658T>G (p.Leu553Arg) c.1619T>G (p.Leu540Arg) | |
18 | g.33739141A>C | CA503768601 | ASXL3 | c.1740A>C (p.Leu580=) c.1737A>C (p.Leu579=) c.*861A>C (n.*861A>C) c.*1396A>C (n.*1396A>C) c.1949A>C (n.1949A>C) c.1569A>C (p.Leu523=) c.1617A>C (p.Leu539=) c.1713A>C (p.Leu571=) c.1659A>C (p.Leu553=) c.1620A>C (p.Leu540=) | |
18 | g.33739141A>G | CA503768602 | ASXL3 | c.1740A>G (p.Leu580=) c.1737A>G (p.Leu579=) c.*861A>G (n.*861A>G) c.*1396A>G (n.*1396A>G) c.1949A>G (n.1949A>G) c.1569A>G (p.Leu523=) c.1617A>G (p.Leu539=) c.1713A>G (p.Leu571=) c.1659A>G (p.Leu553=) c.1620A>G (p.Leu540=) | |
18 | g.33739141A>T | CA503768603 | ASXL3 | c.1740A>T (p.Leu580=) c.1737A>T (p.Leu579=) c.*861A>T (n.*861A>T) c.*1396A>T (n.*1396A>T) c.1949A>T (n.1949A>T) c.1569A>T (p.Leu523=) c.1617A>T (p.Leu539=) c.1713A>T (p.Leu571=) c.1659A>T (p.Leu553=) c.1620A>T (p.Leu540=) | |
18 | g.33739142G>A | CA402176222 | ASXL3 | c.1741G>A (p.Glu581Lys) c.1738G>A (p.Glu580Lys) c.*862G>A (n.*862G>A) c.*1397G>A (n.*1397G>A) c.1950G>A (n.1950G>A) c.1570G>A (p.Glu524Lys) c.1618G>A (p.Glu540Lys) c.1714G>A (p.Glu572Lys) c.1660G>A (p.Glu554Lys) c.1621G>A (p.Glu541Lys) | |
18 | g.33739142G>C | CA402176223 | ASXL3 | c.1741G>C (p.Glu581Gln) c.1738G>C (p.Glu580Gln) c.*862G>C (n.*862G>C) c.*1397G>C (n.*1397G>C) c.1950G>C (n.1950G>C) c.1570G>C (p.Glu524Gln) c.1618G>C (p.Glu540Gln) c.1714G>C (p.Glu572Gln) c.1660G>C (p.Glu554Gln) c.1621G>C (p.Glu541Gln) | gnomAD v4 |
18 | g.33739142G= | CA2294855842 | ASXL3 | c.1741G= (p.Glu581=) c.1738G= (p.Glu580=) c.*862G= (n.*862G=) c.*1397G= (n.*1397G=) c.1950G= (n.1950G=) c.1570G= (p.Glu524=) c.1618G= (p.Glu540=) c.1714G= (p.Glu572=) c.1660G= (p.Glu554=) c.1621G= (p.Glu541=) | |
18 | g.33739142G>T | CA402176224 | ASXL3 | c.1741G>T (p.Glu581Ter) c.1738G>T (p.Glu580Ter) c.*862G>T (n.*862G>T) c.*1397G>T (n.*1397G>T) c.1950G>T (n.1950G>T) c.1570G>T (p.Glu524Ter) c.1618G>T (p.Glu540Ter) c.1714G>T (p.Glu572Ter) c.1660G>T (p.Glu554Ter) c.1621G>T (p.Glu541Ter) | ClinVar dbSNP |
18 | g.33739143A= | CA2294855843 | ASXL3 | c.1742A= (p.Glu581=) c.1739A= (p.Glu580=) c.*863A= (n.*863A=) c.*1398A= (n.*1398A=) c.1951A= (n.1951A=) c.1571A= (p.Glu524=) c.1619A= (p.Glu540=) c.1715A= (p.Glu572=) c.1661A= (p.Glu554=) c.1622A= (p.Glu541=) | |
18 | g.33739143A>C | CA402176226 | ASXL3 | c.1742A>C (p.Glu581Ala) c.1739A>C (p.Glu580Ala) c.*863A>C (n.*863A>C) c.*1398A>C (n.*1398A>C) c.1951A>C (n.1951A>C) c.1571A>C (p.Glu524Ala) c.1619A>C (p.Glu540Ala) c.1715A>C (p.Glu572Ala) c.1661A>C (p.Glu554Ala) c.1622A>C (p.Glu541Ala) | |
18 | g.33739143A>G | CA402176227 | ASXL3 | c.1742A>G (p.Glu581Gly) c.1739A>G (p.Glu580Gly) c.*863A>G (n.*863A>G) c.*1398A>G (n.*1398A>G) c.1951A>G (n.1951A>G) c.1571A>G (p.Glu524Gly) c.1619A>G (p.Glu540Gly) c.1715A>G (p.Glu572Gly) c.1661A>G (p.Glu554Gly) c.1622A>G (p.Glu541Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739143A>T | CA402176225 | ASXL3 | c.1742A>T (p.Glu581Val) c.1739A>T (p.Glu580Val) c.*863A>T (n.*863A>T) c.*1398A>T (n.*1398A>T) c.1951A>T (n.1951A>T) c.1571A>T (p.Glu524Val) c.1619A>T (p.Glu540Val) c.1715A>T (p.Glu572Val) c.1661A>T (p.Glu554Val) c.1622A>T (p.Glu541Val) | |
18 | g.33739144A>C | CA402176228 | ASXL3 | c.1743A>C (p.Glu581Asp) c.1740A>C (p.Glu580Asp) c.*864A>C (n.*864A>C) c.*1399A>C (n.*1399A>C) c.1952A>C (n.1952A>C) c.1572A>C (p.Glu524Asp) c.1620A>C (p.Glu540Asp) c.1716A>C (p.Glu572Asp) c.1662A>C (p.Glu554Asp) c.1623A>C (p.Glu541Asp) | |
18 | g.33739144A>G | CA503768607 | ASXL3 | c.1743A>G (p.Glu581=) c.1740A>G (p.Glu580=) c.*864A>G (n.*864A>G) c.*1399A>G (n.*1399A>G) c.1952A>G (n.1952A>G) c.1572A>G (p.Glu524=) c.1620A>G (p.Glu540=) c.1716A>G (p.Glu572=) c.1662A>G (p.Glu554=) c.1623A>G (p.Glu541=) | |
18 | g.33739144A>T | CA402176229 | ASXL3 | c.1743A>T (p.Glu581Asp) c.1740A>T (p.Glu580Asp) c.*864A>T (n.*864A>T) c.*1399A>T (n.*1399A>T) c.1952A>T (n.1952A>T) c.1572A>T (p.Glu524Asp) c.1620A>T (p.Glu540Asp) c.1716A>T (p.Glu572Asp) c.1662A>T (p.Glu554Asp) c.1623A>T (p.Glu541Asp) | |
18 | g.33739145G>A | CA402176230 | ASXL3 | c.1744G>A (p.Gly582Ser) c.1741G>A (p.Gly581Ser) c.*865G>A (n.*865G>A) c.*1400G>A (n.*1400G>A) c.1953G>A (n.1953G>A) c.1573G>A (p.Gly525Ser) c.1621G>A (p.Gly541Ser) c.1717G>A (p.Gly573Ser) c.1663G>A (p.Gly555Ser) c.1624G>A (p.Gly542Ser) | gnomAD v4 COSMIC COSMIC |
18 | g.33739145G>C | CA402176231 | ASXL3 | c.1744G>C (p.Gly582Arg) c.1741G>C (p.Gly581Arg) c.*865G>C (n.*865G>C) c.*1400G>C (n.*1400G>C) c.1953G>C (n.1953G>C) c.1573G>C (p.Gly525Arg) c.1621G>C (p.Gly541Arg) c.1717G>C (p.Gly573Arg) c.1663G>C (p.Gly555Arg) c.1624G>C (p.Gly542Arg) | |
18 | g.33739145G>T | CA402176232 | ASXL3 | c.1744G>T (p.Gly582Cys) c.1741G>T (p.Gly581Cys) c.*865G>T (n.*865G>T) c.*1400G>T (n.*1400G>T) c.1953G>T (n.1953G>T) c.1573G>T (p.Gly525Cys) c.1621G>T (p.Gly541Cys) c.1717G>T (p.Gly573Cys) c.1663G>T (p.Gly555Cys) c.1624G>T (p.Gly542Cys) | |
18 | g.33739146G>A | CA297787002 | ASXL3 | c.1745G>A (p.Gly582Asp) c.1742G>A (p.Gly581Asp) c.*866G>A (n.*866G>A) c.*1401G>A (n.*1401G>A) c.1954G>A (n.1954G>A) c.1574G>A (p.Gly525Asp) c.1622G>A (p.Gly541Asp) c.1718G>A (p.Gly573Asp) c.1664G>A (p.Gly555Asp) c.1625G>A (p.Gly542Asp) | dbSNP |
18 | g.33739146G>C | CA402176234 | ASXL3 | c.1745G>C (p.Gly582Ala) c.1742G>C (p.Gly581Ala) c.*866G>C (n.*866G>C) c.*1401G>C (n.*1401G>C) c.1954G>C (n.1954G>C) c.1574G>C (p.Gly525Ala) c.1622G>C (p.Gly541Ala) c.1718G>C (p.Gly573Ala) c.1664G>C (p.Gly555Ala) c.1625G>C (p.Gly542Ala) | |
18 | g.33739146G= | CA2294855844 | ASXL3 | c.1745G= (p.Gly582=) c.1742G= (p.Gly581=) c.*866G= (n.*866G=) c.*1401G= (n.*1401G=) c.1954G= (n.1954G=) c.1574G= (p.Gly525=) c.1622G= (p.Gly541=) c.1718G= (p.Gly573=) c.1664G= (p.Gly555=) c.1625G= (p.Gly542=) | |
18 | g.33739146G>T | CA402176233 | ASXL3 | c.1745G>T (p.Gly582Val) c.1742G>T (p.Gly581Val) c.*866G>T (n.*866G>T) c.*1401G>T (n.*1401G>T) c.1954G>T (n.1954G>T) c.1574G>T (p.Gly525Val) c.1622G>T (p.Gly541Val) c.1718G>T (p.Gly573Val) c.1664G>T (p.Gly555Val) c.1625G>T (p.Gly542Val) | |
18 | g.33739147C>A | CA503768611 | ASXL3 | c.1746C>A (p.Gly582=) c.1743C>A (p.Gly581=) c.*867C>A (n.*867C>A) c.*1402C>A (n.*1402C>A) c.1955C>A (n.1955C>A) c.1575C>A (p.Gly525=) c.1623C>A (p.Gly541=) c.1719C>A (p.Gly573=) c.1665C>A (p.Gly555=) c.1626C>A (p.Gly542=) | |
18 | g.33739147C>G | CA503768612 | ASXL3 | c.1746C>G (p.Gly582=) c.1743C>G (p.Gly581=) c.*867C>G (n.*867C>G) c.*1402C>G (n.*1402C>G) c.1955C>G (n.1955C>G) c.1575C>G (p.Gly525=) c.1623C>G (p.Gly541=) c.1719C>G (p.Gly573=) c.1665C>G (p.Gly555=) c.1626C>G (p.Gly542=) | |
18 | g.33739147C>T | CA503768610 | ASXL3 | c.1746C>T (p.Gly582=) c.1743C>T (p.Gly581=) c.*867C>T (n.*867C>T) c.*1402C>T (n.*1402C>T) c.1955C>T (n.1955C>T) c.1575C>T (p.Gly525=) c.1623C>T (p.Gly541=) c.1719C>T (p.Gly573=) c.1665C>T (p.Gly555=) c.1626C>T (p.Gly542=) | dbSNP gnomAD v4 |
18 | g.33739148C>A | CA402176235 | ASXL3 | c.1747C>A (p.Gln583Lys) c.1744C>A (p.Gln582Lys) c.*868C>A (n.*868C>A) c.*1403C>A (n.*1403C>A) c.1956C>A (n.1956C>A) c.1576C>A (p.Gln526Lys) c.1624C>A (p.Gln542Lys) c.1720C>A (p.Gln574Lys) c.1666C>A (p.Gln556Lys) c.1627C>A (p.Gln543Lys) | dbSNP |
18 | g.33739148C= | CA2294855845 | ASXL3 | c.1747C= (p.Gln583=) c.1744C= (p.Gln582=) c.*868C= (n.*868C=) c.*1403C= (n.*1403C=) c.1956C= (n.1956C=) c.1576C= (p.Gln526=) c.1624C= (p.Gln542=) c.1720C= (p.Gln574=) c.1666C= (p.Gln556=) c.1627C= (p.Gln543=) | |
18 | g.33739148C>G | CA402176236 | ASXL3 | c.1747C>G (p.Gln583Glu) c.1744C>G (p.Gln582Glu) c.*868C>G (n.*868C>G) c.*1403C>G (n.*1403C>G) c.1956C>G (n.1956C>G) c.1576C>G (p.Gln526Glu) c.1624C>G (p.Gln542Glu) c.1720C>G (p.Gln574Glu) c.1666C>G (p.Gln556Glu) c.1627C>G (p.Gln543Glu) | gnomAD v4 |
18 | g.33739148C>T | CA402176237 | ASXL3 | c.1747C>T (p.Gln583Ter) c.1744C>T (p.Gln582Ter) c.*868C>T (n.*868C>T) c.*1403C>T (n.*1403C>T) c.1956C>T (n.1956C>T) c.1576C>T (p.Gln526Ter) c.1624C>T (p.Gln542Ter) c.1720C>T (p.Gln574Ter) c.1666C>T (p.Gln556Ter) c.1627C>T (p.Gln543Ter) | ClinVar |
18 | g.33739149A>C | CA402176238 | ASXL3 | c.1748A>C (p.Gln583Pro) c.1745A>C (p.Gln582Pro) c.*869A>C (n.*869A>C) c.*1404A>C (n.*1404A>C) c.1957A>C (n.1957A>C) c.1577A>C (p.Gln526Pro) c.1625A>C (p.Gln542Pro) c.1721A>C (p.Gln574Pro) c.1667A>C (p.Gln556Pro) c.1628A>C (p.Gln543Pro) | |
18 | g.33739149A>G | CA402176239 | ASXL3 | c.1748A>G (p.Gln583Arg) c.1745A>G (p.Gln582Arg) c.*869A>G (n.*869A>G) c.*1404A>G (n.*1404A>G) c.1957A>G (n.1957A>G) c.1577A>G (p.Gln526Arg) c.1625A>G (p.Gln542Arg) c.1721A>G (p.Gln574Arg) c.1667A>G (p.Gln556Arg) c.1628A>G (p.Gln543Arg) | |
18 | g.33739149A>T | CA402176240 | ASXL3 | c.1748A>T (p.Gln583Leu) c.1745A>T (p.Gln582Leu) c.*869A>T (n.*869A>T) c.*1404A>T (n.*1404A>T) c.1957A>T (n.1957A>T) c.1577A>T (p.Gln526Leu) c.1625A>T (p.Gln542Leu) c.1721A>T (p.Gln574Leu) c.1667A>T (p.Gln556Leu) c.1628A>T (p.Gln543Leu) | |
18 | g.33739150G>A | CA8933808 | ASXL3 | c.1749G>A (p.Gln583=) c.1746G>A (p.Gln582=) c.*870G>A (n.*870G>A) c.*1405G>A (n.*1405G>A) c.1958G>A (n.1958G>A) c.1578G>A (p.Gln526=) c.1626G>A (p.Gln542=) c.1722G>A (p.Gln574=) c.1668G>A (p.Gln556=) c.1629G>A (p.Gln543=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739150G>C | CA402176242 | ASXL3 | c.1749G>C (p.Gln583His) c.1746G>C (p.Gln582His) c.*870G>C (n.*870G>C) c.*1405G>C (n.*1405G>C) c.1958G>C (n.1958G>C) c.1578G>C (p.Gln526His) c.1626G>C (p.Gln542His) c.1722G>C (p.Gln574His) c.1668G>C (p.Gln556His) c.1629G>C (p.Gln543His) | |
18 | g.33739150G= | CA2294855846 | ASXL3 | c.1749G= (p.Gln583=) c.1746G= (p.Gln582=) c.*870G= (n.*870G=) c.*1405G= (n.*1405G=) c.1958G= (n.1958G=) c.1578G= (p.Gln526=) c.1626G= (p.Gln542=) c.1722G= (p.Gln574=) c.1668G= (p.Gln556=) c.1629G= (p.Gln543=) | |
18 | g.33739150G>T | CA402176241 | ASXL3 | c.1749G>T (p.Gln583His) c.1746G>T (p.Gln582His) c.*870G>T (n.*870G>T) c.*1405G>T (n.*1405G>T) c.1958G>T (n.1958G>T) c.1578G>T (p.Gln526His) c.1626G>T (p.Gln542His) c.1722G>T (p.Gln574His) c.1668G>T (p.Gln556His) c.1629G>T (p.Gln543His) | |
18 | g.33739151T>A | CA402176243 | ASXL3 | c.1750T>A (p.Phe584Ile) c.1747T>A (p.Phe583Ile) c.*871T>A (n.*871T>A) c.*1406T>A (n.*1406T>A) c.1959T>A (n.1959T>A) c.1579T>A (p.Phe527Ile) c.1627T>A (p.Phe543Ile) c.1723T>A (p.Phe575Ile) c.1669T>A (p.Phe557Ile) c.1630T>A (p.Phe544Ile) | gnomAD v4 |
18 | g.33739151T>C | CA8933809 | ASXL3 | c.1750T>C (p.Phe584Leu) c.1747T>C (p.Phe583Leu) c.*871T>C (n.*871T>C) c.*1406T>C (n.*1406T>C) c.1959T>C (n.1959T>C) c.1579T>C (p.Phe527Leu) c.1627T>C (p.Phe543Leu) c.1723T>C (p.Phe575Leu) c.1669T>C (p.Phe557Leu) c.1630T>C (p.Phe544Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739151T>G | CA402176244 | ASXL3 | c.1750T>G (p.Phe584Val) c.1747T>G (p.Phe583Val) c.*871T>G (n.*871T>G) c.*1406T>G (n.*1406T>G) c.1959T>G (n.1959T>G) c.1579T>G (p.Phe527Val) c.1627T>G (p.Phe543Val) c.1723T>G (p.Phe575Val) c.1669T>G (p.Phe557Val) c.1630T>G (p.Phe544Val) | |
18 | g.33739151T= | CA2294855847 | ASXL3 | c.1750T= (p.Phe584=) c.1747T= (p.Phe583=) c.*871T= (n.*871T=) c.*1406T= (n.*1406T=) c.1959T= (n.1959T=) c.1579T= (p.Phe527=) c.1627T= (p.Phe543=) c.1723T= (p.Phe575=) c.1669T= (p.Phe557=) c.1630T= (p.Phe544=) | |
18 | g.33739152T>A | CA402176245 | ASXL3 | c.1751T>A (p.Phe584Tyr) c.1748T>A (p.Phe583Tyr) c.*872T>A (n.*872T>A) c.*1407T>A (n.*1407T>A) c.1960T>A (n.1960T>A) c.1580T>A (p.Phe527Tyr) c.1628T>A (p.Phe543Tyr) c.1724T>A (p.Phe575Tyr) c.1670T>A (p.Phe557Tyr) c.1631T>A (p.Phe544Tyr) | |
18 | g.33739152T>C | CA402176246 | ASXL3 | c.1751T>C (p.Phe584Ser) c.1748T>C (p.Phe583Ser) c.*872T>C (n.*872T>C) c.*1407T>C (n.*1407T>C) c.1960T>C (n.1960T>C) c.1580T>C (p.Phe527Ser) c.1628T>C (p.Phe543Ser) c.1724T>C (p.Phe575Ser) c.1670T>C (p.Phe557Ser) c.1631T>C (p.Phe544Ser) | |
18 | g.33739152T>G | CA402176247 | ASXL3 | c.1751T>G (p.Phe584Cys) c.1748T>G (p.Phe583Cys) c.*872T>G (n.*872T>G) c.*1407T>G (n.*1407T>G) c.1960T>G (n.1960T>G) c.1580T>G (p.Phe527Cys) c.1628T>G (p.Phe543Cys) c.1724T>G (p.Phe575Cys) c.1670T>G (p.Phe557Cys) c.1631T>G (p.Phe544Cys) | |
18 | g.33739153T>A | CA402176248 | ASXL3 | c.1752T>A (p.Phe584Leu) c.1749T>A (p.Phe583Leu) c.*873T>A (n.*873T>A) c.*1408T>A (n.*1408T>A) c.1961T>A (n.1961T>A) c.1581T>A (p.Phe527Leu) c.1629T>A (p.Phe543Leu) c.1725T>A (p.Phe575Leu) c.1671T>A (p.Phe557Leu) c.1632T>A (p.Phe544Leu) | |
18 | g.33739153T>C | CA503768622 | ASXL3 | c.1752T>C (p.Phe584=) c.1749T>C (p.Phe583=) c.*873T>C (n.*873T>C) c.*1408T>C (n.*1408T>C) c.1961T>C (n.1961T>C) c.1581T>C (p.Phe527=) c.1629T>C (p.Phe543=) c.1725T>C (p.Phe575=) c.1671T>C (p.Phe557=) c.1632T>C (p.Phe544=) | dbSNP gnomAD v4 |
18 | g.33739153T>G | CA402176249 | ASXL3 | c.1752T>G (p.Phe584Leu) c.1749T>G (p.Phe583Leu) c.*873T>G (n.*873T>G) c.*1408T>G (n.*1408T>G) c.1961T>G (n.1961T>G) c.1581T>G (p.Phe527Leu) c.1629T>G (p.Phe543Leu) c.1725T>G (p.Phe575Leu) c.1671T>G (p.Phe557Leu) c.1632T>G (p.Phe544Leu) | |
18 | g.33739153T= | CA2294855848 | ASXL3 | c.1752T= (p.Phe584=) c.1749T= (p.Phe583=) c.*873T= (n.*873T=) c.*1408T= (n.*1408T=) c.1961T= (n.1961T=) c.1581T= (p.Phe527=) c.1629T= (p.Phe543=) c.1725T= (p.Phe575=) c.1671T= (p.Phe557=) c.1632T= (p.Phe544=) | |
18 | g.33739154C>A | CA402176250 | ASXL3 | c.1753C>A (p.Pro585Thr) c.1750C>A (p.Pro584Thr) c.*874C>A (n.*874C>A) c.*1409C>A (n.*1409C>A) c.1962C>A (n.1962C>A) c.1582C>A (p.Pro528Thr) c.1630C>A (p.Pro544Thr) c.1726C>A (p.Pro576Thr) c.1672C>A (p.Pro558Thr) c.1633C>A (p.Pro545Thr) | |
18 | g.33739154C>G | CA402176251 | ASXL3 | c.1753C>G (p.Pro585Ala) c.1750C>G (p.Pro584Ala) c.*874C>G (n.*874C>G) c.*1409C>G (n.*1409C>G) c.1962C>G (n.1962C>G) c.1582C>G (p.Pro528Ala) c.1630C>G (p.Pro544Ala) c.1726C>G (p.Pro576Ala) c.1672C>G (p.Pro558Ala) c.1633C>G (p.Pro545Ala) | |
18 | g.33739154C>T | CA402176252 | ASXL3 | c.1753C>T (p.Pro585Ser) c.1750C>T (p.Pro584Ser) c.*874C>T (n.*874C>T) c.*1409C>T (n.*1409C>T) c.1962C>T (n.1962C>T) c.1582C>T (p.Pro528Ser) c.1630C>T (p.Pro544Ser) c.1726C>T (p.Pro576Ser) c.1672C>T (p.Pro558Ser) c.1633C>T (p.Pro545Ser) | COSMIC COSMIC |
18 | g.33739155C>A | CA402176255 | ASXL3 | c.1754C>A (p.Pro585Gln) c.1751C>A (p.Pro584Gln) c.*875C>A (n.*875C>A) c.*1410C>A (n.*1410C>A) c.1963C>A (n.1963C>A) c.1583C>A (p.Pro528Gln) c.1631C>A (p.Pro544Gln) c.1727C>A (p.Pro576Gln) c.1673C>A (p.Pro558Gln) c.1634C>A (p.Pro545Gln) | |
18 | g.33739155C>G | CA402176254 | ASXL3 | c.1754C>G (p.Pro585Arg) c.1751C>G (p.Pro584Arg) c.*875C>G (n.*875C>G) c.*1410C>G (n.*1410C>G) c.1963C>G (n.1963C>G) c.1583C>G (p.Pro528Arg) c.1631C>G (p.Pro544Arg) c.1727C>G (p.Pro576Arg) c.1673C>G (p.Pro558Arg) c.1634C>G (p.Pro545Arg) | |
18 | g.33739155C>T | CA402176253 | ASXL3 | c.1754C>T (p.Pro585Leu) c.1751C>T (p.Pro584Leu) c.*875C>T (n.*875C>T) c.*1410C>T (n.*1410C>T) c.1963C>T (n.1963C>T) c.1583C>T (p.Pro528Leu) c.1631C>T (p.Pro544Leu) c.1727C>T (p.Pro576Leu) c.1673C>T (p.Pro558Leu) c.1634C>T (p.Pro545Leu) | |
18 | g.33739156A>C | CA503768627 | ASXL3 | c.1755A>C (p.Pro585=) c.1752A>C (p.Pro584=) c.*876A>C (n.*876A>C) c.*1411A>C (n.*1411A>C) c.1964A>C (n.1964A>C) c.1584A>C (p.Pro528=) c.1632A>C (p.Pro544=) c.1728A>C (p.Pro576=) c.1674A>C (p.Pro558=) c.1635A>C (p.Pro545=) | |
18 | g.33739156A>G | CA503768629 | ASXL3 | c.1755A>G (p.Pro585=) c.1752A>G (p.Pro584=) c.*876A>G (n.*876A>G) c.*1411A>G (n.*1411A>G) c.1964A>G (n.1964A>G) c.1584A>G (p.Pro528=) c.1632A>G (p.Pro544=) c.1728A>G (p.Pro576=) c.1674A>G (p.Pro558=) c.1635A>G (p.Pro545=) | |
18 | g.33739156A>T | CA503768630 | ASXL3 | c.1755A>T (p.Pro585=) c.1752A>T (p.Pro584=) c.*876A>T (n.*876A>T) c.*1411A>T (n.*1411A>T) c.1964A>T (n.1964A>T) c.1584A>T (p.Pro528=) c.1632A>T (p.Pro544=) c.1728A>T (p.Pro576=) c.1674A>T (p.Pro558=) c.1635A>T (p.Pro545=) | |
18 | g.33739158del | CA2739291099 | ASXL3 | c.1757del (p.Asn586MetfsTer6) c.1754del (p.Asn585MetfsTer6) c.*878del (n.*878del) c.*1413del (n.*1413del) c.1966del (n.1966del) c.1586del (p.Asn529MetfsTer6) c.1634del (p.Asn545MetfsTer6) c.1730del (p.Asn577MetfsTer6) c.1676del (p.Asn559MetfsTer6) c.1637del (p.Asn546MetfsTer6) | |
18 | g.33739157A= | CA2294855849 | ASXL3 | c.1756A= (p.Asn586=) c.1753A= (p.Asn585=) c.*877A= (n.*877A=) c.*1412A= (n.*1412A=) c.1965A= (n.1965A=) c.1585A= (p.Asn529=) c.1633A= (p.Asn545=) c.1729A= (p.Asn577=) c.1675A= (p.Asn559=) c.1636A= (p.Asn546=) | |
18 | g.33739157A>C | CA402176256 | ASXL3 | c.1756A>C (p.Asn586His) c.1753A>C (p.Asn585His) c.*877A>C (n.*877A>C) c.*1412A>C (n.*1412A>C) c.1965A>C (n.1965A>C) c.1585A>C (p.Asn529His) c.1633A>C (p.Asn545His) c.1729A>C (p.Asn577His) c.1675A>C (p.Asn559His) c.1636A>C (p.Asn546His) | |
18 | g.33739157A>G | CA402176257 | ASXL3 | c.1756A>G (p.Asn586Asp) c.1753A>G (p.Asn585Asp) c.*877A>G (n.*877A>G) c.*1412A>G (n.*1412A>G) c.1965A>G (n.1965A>G) c.1585A>G (p.Asn529Asp) c.1633A>G (p.Asn545Asp) c.1729A>G (p.Asn577Asp) c.1675A>G (p.Asn559Asp) c.1636A>G (p.Asn546Asp) | dbSNP |
18 | g.33739157A>T | CA402176258 | ASXL3 | c.1756A>T (p.Asn586Tyr) c.1753A>T (p.Asn585Tyr) c.*877A>T (n.*877A>T) c.*1412A>T (n.*1412A>T) c.1965A>T (n.1965A>T) c.1585A>T (p.Asn529Tyr) c.1633A>T (p.Asn545Tyr) c.1729A>T (p.Asn577Tyr) c.1675A>T (p.Asn559Tyr) c.1636A>T (p.Asn546Tyr) | |
18 | g.33739158A= | CA2294855850 | ASXL3 | c.1757A= (p.Asn586=) c.1754A= (p.Asn585=) c.*878A= (n.*878A=) c.*1413A= (n.*1413A=) c.1966A= (n.1966A=) c.1586A= (p.Asn529=) c.1634A= (p.Asn545=) c.1730A= (p.Asn577=) c.1676A= (p.Asn559=) c.1637A= (p.Asn546=) | |
18 | g.33739158A>C | CA402176259 | ASXL3 | c.1757A>C (p.Asn586Thr) c.1754A>C (p.Asn585Thr) c.*878A>C (n.*878A>C) c.*1413A>C (n.*1413A>C) c.1966A>C (n.1966A>C) c.1586A>C (p.Asn529Thr) c.1634A>C (p.Asn545Thr) c.1730A>C (p.Asn577Thr) c.1676A>C (p.Asn559Thr) c.1637A>C (p.Asn546Thr) | gnomAD v4 |
18 | g.33739158A>G | CA402176260 | ASXL3 | c.1757A>G (p.Asn586Ser) c.1754A>G (p.Asn585Ser) c.*878A>G (n.*878A>G) c.*1413A>G (n.*1413A>G) c.1966A>G (n.1966A>G) c.1586A>G (p.Asn529Ser) c.1634A>G (p.Asn545Ser) c.1730A>G (p.Asn577Ser) c.1676A>G (p.Asn559Ser) c.1637A>G (p.Asn546Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739158A>T | CA402176261 | ASXL3 | c.1757A>T (p.Asn586Ile) c.1754A>T (p.Asn585Ile) c.*878A>T (n.*878A>T) c.*1413A>T (n.*1413A>T) c.1966A>T (n.1966A>T) c.1586A>T (p.Asn529Ile) c.1634A>T (p.Asn545Ile) c.1730A>T (p.Asn577Ile) c.1676A>T (p.Asn559Ile) c.1637A>T (p.Asn546Ile) | gnomAD v4 |
18 | g.33739159T>A | CA402176262 | ASXL3 | c.1758T>A (p.Asn586Lys) c.1755T>A (p.Asn585Lys) c.*879T>A (n.*879T>A) c.*1414T>A (n.*1414T>A) c.1967T>A (n.1967T>A) c.1587T>A (p.Asn529Lys) c.1635T>A (p.Asn545Lys) c.1731T>A (p.Asn577Lys) c.1677T>A (p.Asn559Lys) c.1638T>A (p.Asn546Lys) | |
18 | g.33739159T>C | CA503768637 | ASXL3 | c.1758T>C (p.Asn586=) c.1755T>C (p.Asn585=) c.*879T>C (n.*879T>C) c.*1414T>C (n.*1414T>C) c.1967T>C (n.1967T>C) c.1587T>C (p.Asn529=) c.1635T>C (p.Asn545=) c.1731T>C (p.Asn577=) c.1677T>C (p.Asn559=) c.1638T>C (p.Asn546=) | dbSNP gnomAD v4 |
18 | g.33739159T>G | CA402176263 | ASXL3 | c.1758T>G (p.Asn586Lys) c.1755T>G (p.Asn585Lys) c.*879T>G (n.*879T>G) c.*1414T>G (n.*1414T>G) c.1967T>G (n.1967T>G) c.1587T>G (p.Asn529Lys) c.1635T>G (p.Asn545Lys) c.1731T>G (p.Asn577Lys) c.1677T>G (p.Asn559Lys) c.1638T>G (p.Asn546Lys) | |
18 | g.33739159T= | CA2294855851 | ASXL3 | c.1758T= (p.Asn586=) c.1755T= (p.Asn585=) c.*879T= (n.*879T=) c.*1414T= (n.*1414T=) c.1967T= (n.1967T=) c.1587T= (p.Asn529=) c.1635T= (p.Asn545=) c.1731T= (p.Asn577=) c.1677T= (p.Asn559=) c.1638T= (p.Asn546=) | |
18 | g.33739160G>A | CA402176264 | ASXL3 | c.1759G>A (p.Glu587Lys) c.1756G>A (p.Glu586Lys) c.*880G>A (n.*880G>A) c.*1415G>A (n.*1415G>A) c.1968G>A (n.1968G>A) c.1588G>A (p.Glu530Lys) c.1636G>A (p.Glu546Lys) c.1732G>A (p.Glu578Lys) c.1678G>A (p.Glu560Lys) c.1639G>A (p.Glu547Lys) | COSMIC COSMIC |
18 | g.33739160G>C | CA402176265 | ASXL3 | c.1759G>C (p.Glu587Gln) c.1756G>C (p.Glu586Gln) c.*880G>C (n.*880G>C) c.*1415G>C (n.*1415G>C) c.1968G>C (n.1968G>C) c.1588G>C (p.Glu530Gln) c.1636G>C (p.Glu546Gln) c.1732G>C (p.Glu578Gln) c.1678G>C (p.Glu560Gln) c.1639G>C (p.Glu547Gln) | |
18 | g.33739160G>T | CA402176266 | ASXL3 | c.1759G>T (p.Glu587Ter) c.1756G>T (p.Glu586Ter) c.*880G>T (n.*880G>T) c.*1415G>T (n.*1415G>T) c.1968G>T (n.1968G>T) c.1588G>T (p.Glu530Ter) c.1636G>T (p.Glu546Ter) c.1732G>T (p.Glu578Ter) c.1678G>T (p.Glu560Ter) c.1639G>T (p.Glu547Ter) | |
18 | g.33739161A>C | CA402176267 | ASXL3 | c.1760A>C (p.Glu587Ala) c.1757A>C (p.Glu586Ala) c.*881A>C (n.*881A>C) c.*1416A>C (n.*1416A>C) c.1969A>C (n.1969A>C) c.1589A>C (p.Glu530Ala) c.1637A>C (p.Glu546Ala) c.1733A>C (p.Glu578Ala) c.1679A>C (p.Glu560Ala) c.1640A>C (p.Glu547Ala) | |
18 | g.33739161A>G | CA402176268 | ASXL3 | c.1760A>G (p.Glu587Gly) c.1757A>G (p.Glu586Gly) c.*881A>G (n.*881A>G) c.*1416A>G (n.*1416A>G) c.1969A>G (n.1969A>G) c.1589A>G (p.Glu530Gly) c.1637A>G (p.Glu546Gly) c.1733A>G (p.Glu578Gly) c.1679A>G (p.Glu560Gly) c.1640A>G (p.Glu547Gly) | |
18 | g.33739161A>T | CA402176269 | ASXL3 | c.1760A>T (p.Glu587Val) c.1757A>T (p.Glu586Val) c.*881A>T (n.*881A>T) c.*1416A>T (n.*1416A>T) c.1969A>T (n.1969A>T) c.1589A>T (p.Glu530Val) c.1637A>T (p.Glu546Val) c.1733A>T (p.Glu578Val) c.1679A>T (p.Glu560Val) c.1640A>T (p.Glu547Val) | |
18 | g.33739162A>C | CA402176271 | ASXL3 | c.1761A>C (p.Glu587Asp) c.1758A>C (p.Glu586Asp) c.*882A>C (n.*882A>C) c.*1417A>C (n.*1417A>C) c.1970A>C (n.1970A>C) c.1590A>C (p.Glu530Asp) c.1638A>C (p.Glu546Asp) c.1734A>C (p.Glu578Asp) c.1680A>C (p.Glu560Asp) c.1641A>C (p.Glu547Asp) | |
18 | g.33739162A>G | CA503768642 | ASXL3 | c.1761A>G (p.Glu587=) c.1758A>G (p.Glu586=) c.*882A>G (n.*882A>G) c.*1417A>G (n.*1417A>G) c.1970A>G (n.1970A>G) c.1590A>G (p.Glu530=) c.1638A>G (p.Glu546=) c.1734A>G (p.Glu578=) c.1680A>G (p.Glu560=) c.1641A>G (p.Glu547=) | gnomAD v4 |
18 | g.33739162A>T | CA402176270 | ASXL3 | c.1761A>T (p.Glu587Asp) c.1758A>T (p.Glu586Asp) c.*882A>T (n.*882A>T) c.*1417A>T (n.*1417A>T) c.1970A>T (n.1970A>T) c.1590A>T (p.Glu530Asp) c.1638A>T (p.Glu546Asp) c.1734A>T (p.Glu578Asp) c.1680A>T (p.Glu560Asp) c.1641A>T (p.Glu547Asp) | |
18 | g.33739163G>A | CA402176272 | ASXL3 | c.1762G>A (p.Gly588Arg) c.1759G>A (p.Gly587Arg) c.*883G>A (n.*883G>A) c.*1418G>A (n.*1418G>A) c.1971G>A (n.1971G>A) c.1591G>A (p.Gly531Arg) c.1639G>A (p.Gly547Arg) c.1735G>A (p.Gly579Arg) c.1681G>A (p.Gly561Arg) c.1642G>A (p.Gly548Arg) | gnomAD v4 |
18 | g.33739163G>C | CA402176273 | ASXL3 | c.1762G>C (p.Gly588Arg) c.1759G>C (p.Gly587Arg) c.*883G>C (n.*883G>C) c.*1418G>C (n.*1418G>C) c.1971G>C (n.1971G>C) c.1591G>C (p.Gly531Arg) c.1639G>C (p.Gly547Arg) c.1735G>C (p.Gly579Arg) c.1681G>C (p.Gly561Arg) c.1642G>C (p.Gly548Arg) | |
18 | g.33739163G>T | CA402176274 | ASXL3 | c.1762G>T (p.Gly588Ter) c.1759G>T (p.Gly587Ter) c.*883G>T (n.*883G>T) c.*1418G>T (n.*1418G>T) c.1971G>T (n.1971G>T) c.1591G>T (p.Gly531Ter) c.1639G>T (p.Gly547Ter) c.1735G>T (p.Gly579Ter) c.1681G>T (p.Gly561Ter) c.1642G>T (p.Gly548Ter) | COSMIC COSMIC |
18 | g.33739164G>A | CA8933810 | ASXL3 | c.1763G>A (p.Gly588Glu) c.1760G>A (p.Gly587Glu) c.*884G>A (n.*884G>A) c.*1419G>A (n.*1419G>A) c.1972G>A (n.1972G>A) c.1592G>A (p.Gly531Glu) c.1640G>A (p.Gly547Glu) c.1736G>A (p.Gly579Glu) c.1682G>A (p.Gly561Glu) c.1643G>A (p.Gly548Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739164G>C | CA402176275 | ASXL3 | c.1763G>C (p.Gly588Ala) c.1760G>C (p.Gly587Ala) c.*884G>C (n.*884G>C) c.*1419G>C (n.*1419G>C) c.1972G>C (n.1972G>C) c.1592G>C (p.Gly531Ala) c.1640G>C (p.Gly547Ala) c.1736G>C (p.Gly579Ala) c.1682G>C (p.Gly561Ala) c.1643G>C (p.Gly548Ala) | |
18 | g.33739164G= | CA2294855852 | ASXL3 | c.1763G= (p.Gly588=) c.1760G= (p.Gly587=) c.*884G= (n.*884G=) c.*1419G= (n.*1419G=) c.1972G= (n.1972G=) c.1592G= (p.Gly531=) c.1640G= (p.Gly547=) c.1736G= (p.Gly579=) c.1682G= (p.Gly561=) c.1643G= (p.Gly548=) | |
18 | g.33739164G>T | CA402176276 | ASXL3 | c.1763G>T (p.Gly588Val) c.1760G>T (p.Gly587Val) c.*884G>T (n.*884G>T) c.*1419G>T (n.*1419G>T) c.1972G>T (n.1972G>T) c.1592G>T (p.Gly531Val) c.1640G>T (p.Gly547Val) c.1736G>T (p.Gly579Val) c.1682G>T (p.Gly561Val) c.1643G>T (p.Gly548Val) | COSMIC COSMIC |
18 | g.33739165A>C | CA503768650 | ASXL3 | c.1764A>C (p.Gly588=) c.1761A>C (p.Gly587=) c.*885A>C (n.*885A>C) c.*1420A>C (n.*1420A>C) c.1973A>C (n.1973A>C) c.1593A>C (p.Gly531=) c.1641A>C (p.Gly547=) c.1737A>C (p.Gly579=) c.1683A>C (p.Gly561=) c.1644A>C (p.Gly548=) | |
18 | g.33739165A>G | CA503768646 | ASXL3 | c.1764A>G (p.Gly588=) c.1761A>G (p.Gly587=) c.*885A>G (n.*885A>G) c.*1420A>G (n.*1420A>G) c.1973A>G (n.1973A>G) c.1593A>G (p.Gly531=) c.1641A>G (p.Gly547=) c.1737A>G (p.Gly579=) c.1683A>G (p.Gly561=) c.1644A>G (p.Gly548=) | |
18 | g.33739165A>T | CA503768649 | ASXL3 | c.1764A>T (p.Gly588=) c.1761A>T (p.Gly587=) c.*885A>T (n.*885A>T) c.*1420A>T (n.*1420A>T) c.1973A>T (n.1973A>T) c.1593A>T (p.Gly531=) c.1641A>T (p.Gly547=) c.1737A>T (p.Gly579=) c.1683A>T (p.Gly561=) c.1644A>T (p.Gly548=) | |
18 | g.33739166A= | CA2294855853 | ASXL3 | c.1765A= (p.Ile589=) c.1762A= (p.Ile588=) c.*886A= (n.*886A=) c.*1421A= (n.*1421A=) c.1974A= (n.1974A=) c.1594A= (p.Ile532=) c.1642A= (p.Ile548=) c.1738A= (p.Ile580=) c.1684A= (p.Ile562=) c.1645A= (p.Ile549=) | |
18 | g.33739166A>C | CA402176278 | ASXL3 | c.1765A>C (p.Ile589Leu) c.1762A>C (p.Ile588Leu) c.*886A>C (n.*886A>C) c.*1421A>C (n.*1421A>C) c.1974A>C (n.1974A>C) c.1594A>C (p.Ile532Leu) c.1642A>C (p.Ile548Leu) c.1738A>C (p.Ile580Leu) c.1684A>C (p.Ile562Leu) c.1645A>C (p.Ile549Leu) | gnomAD v4 |
18 | g.33739166A>G | CA8933811 | ASXL3 | c.1765A>G (p.Ile589Val) c.1762A>G (p.Ile588Val) c.*886A>G (n.*886A>G) c.*1421A>G (n.*1421A>G) c.1974A>G (n.1974A>G) c.1594A>G (p.Ile532Val) c.1642A>G (p.Ile548Val) c.1738A>G (p.Ile580Val) c.1684A>G (p.Ile562Val) c.1645A>G (p.Ile549Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33739166A>T | CA402176277 | ASXL3 | c.1765A>T (p.Ile589Phe) c.1762A>T (p.Ile588Phe) c.*886A>T (n.*886A>T) c.*1421A>T (n.*1421A>T) c.1974A>T (n.1974A>T) c.1594A>T (p.Ile532Phe) c.1642A>T (p.Ile548Phe) c.1738A>T (p.Ile580Phe) c.1684A>T (p.Ile562Phe) c.1645A>T (p.Ile549Phe) | |
18 | g.33739167T>A | CA402176279 | ASXL3 | c.1766T>A (p.Ile589Asn) c.1763T>A (p.Ile588Asn) c.*887T>A (n.*887T>A) c.*1422T>A (n.*1422T>A) c.1975T>A (n.1975T>A) c.1595T>A (p.Ile532Asn) c.1643T>A (p.Ile548Asn) c.1739T>A (p.Ile580Asn) c.1685T>A (p.Ile562Asn) c.1646T>A (p.Ile549Asn) | |
18 | g.33739167T>C | CA402176280 | ASXL3 | c.1766T>C (p.Ile589Thr) c.1763T>C (p.Ile588Thr) c.*887T>C (n.*887T>C) c.*1422T>C (n.*1422T>C) c.1975T>C (n.1975T>C) c.1595T>C (p.Ile532Thr) c.1643T>C (p.Ile548Thr) c.1739T>C (p.Ile580Thr) c.1685T>C (p.Ile562Thr) c.1646T>C (p.Ile549Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739167T>G | CA402176281 | ASXL3 | c.1766T>G (p.Ile589Ser) c.1763T>G (p.Ile588Ser) c.*887T>G (n.*887T>G) c.*1422T>G (n.*1422T>G) c.1975T>G (n.1975T>G) c.1595T>G (p.Ile532Ser) c.1643T>G (p.Ile548Ser) c.1739T>G (p.Ile580Ser) c.1685T>G (p.Ile562Ser) c.1646T>G (p.Ile549Ser) | |
18 | g.33739167T= | CA2294855854 | ASXL3 | c.1766T= (p.Ile589=) c.1763T= (p.Ile588=) c.*887T= (n.*887T=) c.*1422T= (n.*1422T=) c.1975T= (n.1975T=) c.1595T= (p.Ile532=) c.1643T= (p.Ile548=) c.1739T= (p.Ile580=) c.1685T= (p.Ile562=) c.1646T= (p.Ile549=) | |
18 | g.33739168T>A | CA503768666 | ASXL3 | c.1767T>A (p.Ile589=) c.1764T>A (p.Ile588=) c.*888T>A (n.*888T>A) c.*1423T>A (n.*1423T>A) c.1976T>A (n.1976T>A) c.1596T>A (p.Ile532=) c.1644T>A (p.Ile548=) c.1740T>A (p.Ile580=) c.1686T>A (p.Ile562=) c.1647T>A (p.Ile549=) | |
18 | g.33739168T>C | CA297787009 | ASXL3 | c.1767T>C (p.Ile589=) c.1764T>C (p.Ile588=) c.*888T>C (n.*888T>C) c.*1423T>C (n.*1423T>C) c.1976T>C (n.1976T>C) c.1596T>C (p.Ile532=) c.1644T>C (p.Ile548=) c.1740T>C (p.Ile580=) c.1686T>C (p.Ile562=) c.1647T>C (p.Ile549=) | dbSNP gnomAD v4 |
18 | g.33739168T>G | CA402176282 | ASXL3 | c.1767T>G (p.Ile589Met) c.1764T>G (p.Ile588Met) c.*888T>G (n.*888T>G) c.*1423T>G (n.*1423T>G) c.1976T>G (n.1976T>G) c.1596T>G (p.Ile532Met) c.1644T>G (p.Ile548Met) c.1740T>G (p.Ile580Met) c.1686T>G (p.Ile562Met) c.1647T>G (p.Ile549Met) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739168T= | CA2294855855 | ASXL3 | c.1767T= (p.Ile589=) c.1764T= (p.Ile588=) c.*888T= (n.*888T=) c.*1423T= (n.*1423T=) c.1976T= (n.1976T=) c.1596T= (p.Ile532=) c.1644T= (p.Ile548=) c.1740T= (p.Ile580=) c.1686T= (p.Ile562=) c.1647T= (p.Ile549=) | |
18 | g.33739169G>A | CA402176283 | ASXL3 | c.1768G>A (p.Ala590Thr) c.1765G>A (p.Ala589Thr) c.*889G>A (n.*889G>A) c.*1424G>A (n.*1424G>A) c.1977G>A (n.1977G>A) c.1597G>A (p.Ala533Thr) c.1645G>A (p.Ala549Thr) c.1741G>A (p.Ala581Thr) c.1687G>A (p.Ala563Thr) c.1648G>A (p.Ala550Thr) | |
18 | g.33739169G>C | CA402176285 | ASXL3 | c.1768G>C (p.Ala590Pro) c.1765G>C (p.Ala589Pro) c.*889G>C (n.*889G>C) c.*1424G>C (n.*1424G>C) c.1977G>C (n.1977G>C) c.1597G>C (p.Ala533Pro) c.1645G>C (p.Ala549Pro) c.1741G>C (p.Ala581Pro) c.1687G>C (p.Ala563Pro) c.1648G>C (p.Ala550Pro) | |
18 | g.33739169G>T | CA402176284 | ASXL3 | c.1768G>T (p.Ala590Ser) c.1765G>T (p.Ala589Ser) c.*889G>T (n.*889G>T) c.*1424G>T (n.*1424G>T) c.1977G>T (n.1977G>T) c.1597G>T (p.Ala533Ser) c.1645G>T (p.Ala549Ser) c.1741G>T (p.Ala581Ser) c.1687G>T (p.Ala563Ser) c.1648G>T (p.Ala550Ser) | gnomAD v4 |
18 | g.33739170C>A | CA402176286 | ASXL3 | c.1769C>A (p.Ala590Asp) c.1766C>A (p.Ala589Asp) c.*890C>A (n.*890C>A) c.*1425C>A (n.*1425C>A) c.1978C>A (n.1978C>A) c.1598C>A (p.Ala533Asp) c.1646C>A (p.Ala549Asp) c.1742C>A (p.Ala581Asp) c.1688C>A (p.Ala563Asp) c.1649C>A (p.Ala550Asp) | |
18 | g.33739170C>G | CA402176287 | ASXL3 | c.1769C>G (p.Ala590Gly) c.1766C>G (p.Ala589Gly) c.*890C>G (n.*890C>G) c.*1425C>G (n.*1425C>G) c.1978C>G (n.1978C>G) c.1598C>G (p.Ala533Gly) c.1646C>G (p.Ala549Gly) c.1742C>G (p.Ala581Gly) c.1688C>G (p.Ala563Gly) c.1649C>G (p.Ala550Gly) | gnomAD v4 |
18 | g.33739170C>T | CA402176288 | ASXL3 | c.1769C>T (p.Ala590Val) c.1766C>T (p.Ala589Val) c.*890C>T (n.*890C>T) c.*1425C>T (n.*1425C>T) c.1978C>T (n.1978C>T) c.1598C>T (p.Ala533Val) c.1646C>T (p.Ala549Val) c.1742C>T (p.Ala581Val) c.1688C>T (p.Ala563Val) c.1649C>T (p.Ala550Val) | |
18 | g.33739171T>A | CA503768676 | ASXL3 | c.1770T>A (p.Ala590=) c.1767T>A (p.Ala589=) c.*891T>A (n.*891T>A) c.*1426T>A (n.*1426T>A) c.1979T>A (n.1979T>A) c.1599T>A (p.Ala533=) c.1647T>A (p.Ala549=) c.1743T>A (p.Ala581=) c.1689T>A (p.Ala563=) c.1650T>A (p.Ala550=) | |
18 | g.33739171T>C | CA503768675 | ASXL3 | c.1770T>C (p.Ala590=) c.1767T>C (p.Ala589=) c.*891T>C (n.*891T>C) c.*1426T>C (n.*1426T>C) c.1979T>C (n.1979T>C) c.1599T>C (p.Ala533=) c.1647T>C (p.Ala549=) c.1743T>C (p.Ala581=) c.1689T>C (p.Ala563=) c.1650T>C (p.Ala550=) | |
18 | g.33739171T>G | CA503768674 | ASXL3 | c.1770T>G (p.Ala590=) c.1767T>G (p.Ala589=) c.*891T>G (n.*891T>G) c.*1426T>G (n.*1426T>G) c.1979T>G (n.1979T>G) c.1599T>G (p.Ala533=) c.1647T>G (p.Ala549=) c.1743T>G (p.Ala581=) c.1689T>G (p.Ala563=) c.1650T>G (p.Ala550=) | |
18 | g.33739172A= | CA2294855856 | ASXL3 | c.1771A= (p.Ile591=) c.1768A= (p.Ile590=) c.*892A= (n.*892A=) c.*1427A= (n.*1427A=) c.1980A= (n.1980A=) c.1600A= (p.Ile534=) c.1648A= (p.Ile550=) c.1744A= (p.Ile582=) c.1690A= (p.Ile564=) c.1651A= (p.Ile551=) | |
18 | g.33739172A>C | CA402176289 | ASXL3 | c.1771A>C (p.Ile591Leu) c.1768A>C (p.Ile590Leu) c.*892A>C (n.*892A>C) c.*1427A>C (n.*1427A>C) c.1980A>C (n.1980A>C) c.1600A>C (p.Ile534Leu) c.1648A>C (p.Ile550Leu) c.1744A>C (p.Ile582Leu) c.1690A>C (p.Ile564Leu) c.1651A>C (p.Ile551Leu) | |
18 | g.33739172A>G | CA402176290 | ASXL3 | c.1771A>G (p.Ile591Val) c.1768A>G (p.Ile590Val) c.*892A>G (n.*892A>G) c.*1427A>G (n.*1427A>G) c.1980A>G (n.1980A>G) c.1600A>G (p.Ile534Val) c.1648A>G (p.Ile550Val) c.1744A>G (p.Ile582Val) c.1690A>G (p.Ile564Val) c.1651A>G (p.Ile551Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33739172A>T | CA402176291 | ASXL3 | c.1771A>T (p.Ile591Leu) c.1768A>T (p.Ile590Leu) c.*892A>T (n.*892A>T) c.*1427A>T (n.*1427A>T) c.1980A>T (n.1980A>T) c.1600A>T (p.Ile534Leu) c.1648A>T (p.Ile550Leu) c.1744A>T (p.Ile582Leu) c.1690A>T (p.Ile564Leu) c.1651A>T (p.Ile551Leu) | |
18 | g.33739173T>A | CA402176292 | ASXL3 | c.1772T>A (p.Ile591Lys) c.1769T>A (p.Ile590Lys) c.*893T>A (n.*893T>A) c.*1428T>A (n.*1428T>A) c.1981T>A (n.1981T>A) c.1601T>A (p.Ile534Lys) c.1649T>A (p.Ile550Lys) c.1745T>A (p.Ile582Lys) c.1691T>A (p.Ile564Lys) c.1652T>A (p.Ile551Lys) | |
18 | g.33739173T>C | CA8933812 | ASXL3 | c.1772T>C (p.Ile591Thr) c.1769T>C (p.Ile590Thr) c.*893T>C (n.*893T>C) c.*1428T>C (n.*1428T>C) c.1981T>C (n.1981T>C) c.1601T>C (p.Ile534Thr) c.1649T>C (p.Ile550Thr) c.1745T>C (p.Ile582Thr) c.1691T>C (p.Ile564Thr) c.1652T>C (p.Ile551Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33739173T>G | CA402176293 | ASXL3 | c.1772T>G (p.Ile591Arg) c.1769T>G (p.Ile590Arg) c.*893T>G (n.*893T>G) c.*1428T>G (n.*1428T>G) c.1981T>G (n.1981T>G) c.1601T>G (p.Ile534Arg) c.1649T>G (p.Ile550Arg) c.1745T>G (p.Ile582Arg) c.1691T>G (p.Ile564Arg) c.1652T>G (p.Ile551Arg) | |
18 | g.33739173T= | CA2294855857 | ASXL3 | c.1772T= (p.Ile591=) c.1769T= (p.Ile590=) c.*893T= (n.*893T=) c.*1428T= (n.*1428T=) c.1981T= (n.1981T=) c.1601T= (p.Ile534=) c.1649T= (p.Ile550=) c.1745T= (p.Ile582=) c.1691T= (p.Ile564=) c.1652T= (p.Ile551=) | |
18 | g.33739174A>C | CA503768687 | ASXL3 | c.1773A>C (p.Ile591=) c.1770A>C (p.Ile590=) c.*894A>C (n.*894A>C) c.*1429A>C (n.*1429A>C) c.1982A>C (n.1982A>C) c.1602A>C (p.Ile534=) c.1650A>C (p.Ile550=) c.1746A>C (p.Ile582=) c.1692A>C (p.Ile564=) c.1653A>C (p.Ile551=) | |
18 | g.33739174A>G | CA402176294 | ASXL3 | c.1773A>G (p.Ile591Met) c.1770A>G (p.Ile590Met) c.*894A>G (n.*894A>G) c.*1429A>G (n.*1429A>G) c.1982A>G (n.1982A>G) c.1602A>G (p.Ile534Met) c.1650A>G (p.Ile550Met) c.1746A>G (p.Ile582Met) c.1692A>G (p.Ile564Met) c.1653A>G (p.Ile551Met) | |
18 | g.33739174A>T | CA503768686 | ASXL3 | c.1773A>T (p.Ile591=) c.1770A>T (p.Ile590=) c.*894A>T (n.*894A>T) c.*1429A>T (n.*1429A>T) c.1982A>T (n.1982A>T) c.1602A>T (p.Ile534=) c.1650A>T (p.Ile550=) c.1746A>T (p.Ile582=) c.1692A>T (p.Ile564=) c.1653A>T (p.Ile551=) | |
18 | g.33739175G>A | CA402176295 | ASXL3 | c.1774G>A (p.Asp592Asn) c.1771G>A (p.Asp591Asn) c.*895G>A (n.*895G>A) c.*1430G>A (n.*1430G>A) c.1983G>A (n.1983G>A) c.1603G>A (p.Asp535Asn) c.1651G>A (p.Asp551Asn) c.1747G>A (p.Asp583Asn) c.1693G>A (p.Asp565Asn) c.1654G>A (p.Asp552Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33739175G>C | CA402176296 | ASXL3 | c.1774G>C (p.Asp592His) c.1771G>C (p.Asp591His) c.*895G>C (n.*895G>C) c.*1430G>C (n.*1430G>C) c.1983G>C (n.1983G>C) c.1603G>C (p.Asp535His) c.1651G>C (p.Asp551His) c.1747G>C (p.Asp583His) c.1693G>C (p.Asp565His) c.1654G>C (p.Asp552His) | |
18 | g.33739175G= | CA2294855858 | ASXL3 | c.1774G= (p.Asp592=) c.1771G= (p.Asp591=) c.*895G= (n.*895G=) c.*1430G= (n.*1430G=) c.1983G= (n.1983G=) c.1603G= (p.Asp535=) c.1651G= (p.Asp551=) c.1747G= (p.Asp583=) c.1693G= (p.Asp565=) c.1654G= (p.Asp552=) | |
18 | g.33739175G>T | CA402176297 | ASXL3 | c.1774G>T (p.Asp592Tyr) c.1771G>T (p.Asp591Tyr) c.*895G>T (n.*895G>T) c.*1430G>T (n.*1430G>T) c.1983G>T (n.1983G>T) c.1603G>T (p.Asp535Tyr) c.1651G>T (p.Asp551Tyr) c.1747G>T (p.Asp583Tyr) c.1693G>T (p.Asp565Tyr) c.1654G>T (p.Asp552Tyr) | |
18 | g.33739176A>C | CA402176300 | ASXL3 | c.1775A>C (p.Asp592Ala) c.1772A>C (p.Asp591Ala) c.*896A>C (n.*896A>C) c.*1431A>C (n.*1431A>C) c.1984A>C (n.1984A>C) c.1604A>C (p.Asp535Ala) c.1652A>C (p.Asp551Ala) c.1748A>C (p.Asp583Ala) c.1694A>C (p.Asp565Ala) c.1655A>C (p.Asp552Ala) | |
18 | g.33739176A>G | CA402176298 | ASXL3 | c.1775A>G (p.Asp592Gly) c.1772A>G (p.Asp591Gly) c.*896A>G (n.*896A>G) c.*1431A>G (n.*1431A>G) c.1984A>G (n.1984A>G) c.1604A>G (p.Asp535Gly) c.1652A>G (p.Asp551Gly) c.1748A>G (p.Asp583Gly) c.1694A>G (p.Asp565Gly) c.1655A>G (p.Asp552Gly) | |
18 | g.33739176A>T | CA402176299 | ASXL3 | c.1775A>T (p.Asp592Val) c.1772A>T (p.Asp591Val) c.*896A>T (n.*896A>T) c.*1431A>T (n.*1431A>T) c.1984A>T (n.1984A>T) c.1604A>T (p.Asp535Val) c.1652A>T (p.Asp551Val) c.1748A>T (p.Asp583Val) c.1694A>T (p.Asp565Val) c.1655A>T (p.Asp552Val) | |
18 | g.33739177T>A | CA402176301 | ASXL3 | c.1776T>A (p.Asp592Glu) c.1773T>A (p.Asp591Glu) c.*897T>A (n.*897T>A) c.*1432T>A (n.*1432T>A) c.1985T>A (n.1985T>A) c.1605T>A (p.Asp535Glu) c.1653T>A (p.Asp551Glu) c.1749T>A (p.Asp583Glu) c.1695T>A (p.Asp565Glu) c.1656T>A (p.Asp552Glu) | |
18 | g.33739177T>C | CA503768698 | ASXL3 | c.1776T>C (p.Asp592=) c.1773T>C (p.Asp591=) c.*897T>C (n.*897T>C) c.*1432T>C (n.*1432T>C) c.1985T>C (n.1985T>C) c.1605T>C (p.Asp535=) c.1653T>C (p.Asp551=) c.1749T>C (p.Asp583=) c.1695T>C (p.Asp565=) c.1656T>C (p.Asp552=) | |
18 | g.33739177T>G | CA402176302 | ASXL3 | c.1776T>G (p.Asp592Glu) c.1773T>G (p.Asp591Glu) c.*897T>G (n.*897T>G) c.*1432T>G (n.*1432T>G) c.1985T>G (n.1985T>G) c.1605T>G (p.Asp535Glu) c.1653T>G (p.Asp551Glu) c.1749T>G (p.Asp583Glu) c.1695T>G (p.Asp565Glu) c.1656T>G (p.Asp552Glu) | |
18 | g.33739178A>C | CA402176303 | ASXL3 | c.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 |
18 | g.33739178A>G | CA402176304 | ASXL3 | c.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 |
18 | g.33739178A>T | CA402176305 | ASXL3 | c.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) | |
18 | g.33739179T>A | CA402176306 | ASXL3 | c.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) | |
18 | g.33739179T>C | CA8933813 | ASXL3 | c.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 |
18 | g.33739179T>G | CA402176307 | ASXL3 | c.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 |
18 | g.33739179T= | CA2294855859 | ASXL3 | c.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=) | |
18 | g.33739180G>A | CA402176308 | ASXL3 | c.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) | |
18 | g.33739180G>C | CA402176309 | ASXL3 | c.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) | |
18 | g.33739180G>T | CA402176310 | ASXL3 | c.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) | |
18 | g.33739181G>A | CA402176312 | ASXL3 | c.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 |
18 | g.33739181G>C | CA402176311 | ASXL3 | c.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) | |
18 | g.33739181G= | CA2294855860 | ASXL3 | c.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=) | |
18 | g.33739181G>T | CA10588678 | ASXL3 | c.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 |
18 | g.33739182A>C | CA402176313 | ASXL3 | c.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) | |
18 | g.33739182A>G | CA402176315 | ASXL3 | c.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) | |
18 | g.33739182A>T | CA402176314 | ASXL3 | c.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) | |
18 | g.33739183G>A | CA503768712 | ASXL3 | c.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 |
18 | g.33739183G>C | CA402176316 | ASXL3 | c.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) | |
18 | g.33739183G>T | CA402176317 | ASXL3 | c.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) | |
18 | g.33739184C>A | CA402176318 | ASXL3 | c.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) | |
18 | g.33739184C>G | CA402176319 | ASXL3 | c.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) | |
18 | g.33739184C>T | CA503768717 | ASXL3 | c.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 |
18 | g.33739185T>A | CA402176320 | ASXL3 | c.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 |
18 | g.33739185T>C | CA402176321 | ASXL3 | c.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 |
18 | g.33739185T>G | CA402176322 | ASXL3 | c.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) | |
18 | g.33739186A>C | CA503768718 | ASXL3 | c.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=) | |
18 | g.33739186A>G | CA503768719 | ASXL3 | c.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 |
18 | g.33739186A>T | CA503768720 | ASXL3 | c.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=) | |
18 | g.33739187C>A | CA402176323 | ASXL3 | c.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) | |
18 | g.33739187C= | CA2294855861 | ASXL3 | c.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=) | |
18 | g.33739187C>G | CA402176324 | ASXL3 | c.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 |
18 | g.33739187C>T | CA402176325 | ASXL3 | c.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 |
18 | g.33739188A= | CA2294855862 | ASXL3 | c.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=) | |
18 | g.33739188A>C | CA402176326 | ASXL3 | c.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) | |
18 | g.33739188A>G | CA402176327 | ASXL3 | c.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 |
18 | g.33739188A>T | CA402176328 | ASXL3 | c.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) | |
18 | g.33739189G>A | CA503768723 | ASXL3 | c.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=) | |
18 | g.33739189G>C | CA297787017 | ASXL3 | c.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 |
18 | g.33739189G= | CA2294855863 | ASXL3 | c.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=) | |
18 | g.33739189G>T | CA402176329 | ASXL3 | c.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) | |
18 | g.33739190A>C | CA402176330 | ASXL3 | c.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) | |
18 | g.33739190A>G | CA402176332 | ASXL3 | c.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) | |
18 | g.33739190A>T | CA402176331 | ASXL3 | c.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) | |
18 | g.33739191G>A | CA402176333 | ASXL3 | c.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) | |
18 | g.33739191G>C | CA402176334 | ASXL3 | c.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) | |
18 | g.33739191G>T | CA402176335 | ASXL3 | c.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 |
18 | g.33739192T>A | CA402176336 | ASXL3 | c.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) | |
18 | g.33739192T>C | CA503768726 | ASXL3 | c.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=) | |
18 | g.33739192T>G | CA402176337 | ASXL3 | c.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) | |
18 | g.33739193G>A | CA402176338 | ASXL3 | c.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 |
18 | g.33739193G>C | CA402176339 | ASXL3 | c.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) | |
18 | g.33739193G>T | CA402176340 | ASXL3 | c.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) | |
18 | g.33739194A= | CA2294855864 | ASXL3 | c.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=) | |
18 | g.33739194A>C | CA402176341 | ASXL3 | c.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) | |
18 | g.33739194A>G | CA402176342 | ASXL3 | c.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) | |
18 | g.33739194A>T | CA402176343 | ASXL3 | c.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 |
18 | g.33739195C>A | CA402176344 | ASXL3 | c.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 |
18 | g.33739195C= | CA2294855865 | ASXL3 | c.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=) | |
18 | g.33739195C>G | CA402176345 | ASXL3 | c.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) | |
18 | g.33739195C>T | CA503768729 | ASXL3 | c.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=) | |
18 | g.33739196C>A | CA402176346 | ASXL3 | c.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 |
18 | g.33739196C= | CA2294855866 | ASXL3 | c.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=) | |
18 | g.33739196C>G | CA402176347 | ASXL3 | c.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 |
18 | g.33739196C>T | CA402176348 | ASXL3 | c.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) | |
18 | g.33739197C>A | CA402176349 | ASXL3 | c.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) | |
18 | g.33739197C>G | CA402176350 | ASXL3 | c.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) | |
18 | g.33739197C>T | CA402176351 | ASXL3 | c.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) | |
18 | g.33739198T>A | CA503768735 | ASXL3 | c.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=) | |
18 | g.33739198T>C | CA503768736 | ASXL3 | c.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 |
18 | g.33739198T>G | CA503768738 | ASXL3 | c.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=) | |
18 | g.33739198T= | CA2294855867 | ASXL3 | c.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=) | |
18 | g.33739199G>A | CA402176354 | ASXL3 | c.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 |
18 | g.33739199G>C | CA402176352 | ASXL3 | c.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) | |
18 | g.33739199G>T | CA402176353 | ASXL3 | c.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) | |
18 | g.33739200A>C | CA402176355 | ASXL3 | c.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) | |
18 | g.33739200A>G | CA402176356 | ASXL3 | c.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) | |
18 | g.33739200A>T | CA402176357 | ASXL3 | c.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) | |
18 | g.33739201A>C | CA402176358 | ASXL3 | c.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) | |
18 | g.33739201A>G | CA503768740 | ASXL3 | c.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=) | |
18 | g.33739201A>T | CA402176359 | ASXL3 | c.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) | |
18 | g.33739202G>A | CA297787020 | ASXL3 | c.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 |
18 | g.33739202G>C | CA402176361 | ASXL3 | c.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) | |
18 | g.33739202G= | CA2294855868 | ASXL3 | c.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=) | |
18 | g.33739202G>T | CA402176360 | ASXL3 | c.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) | |
18 | g.33739203A>C | CA402176362 | ASXL3 | c.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) | |
18 | g.33739203A>G | CA402176363 | ASXL3 | c.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) | |
18 | g.33739203A>T | CA402176364 | ASXL3 | c.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) | |
18 | g.33739204A>C | CA402176365 | ASXL3 | c.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) | |
18 | g.33739204A>G | CA503768744 | ASXL3 | c.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 |
18 | g.33739204A>T | CA402176366 | ASXL3 | c.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) | |
18 | g.33739205C>A | CA402176367 | ASXL3 | c.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) | |
18 | g.33739205C= | CA2294855869 | ASXL3 | c.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=) | |
18 | g.33739205C>G | CA402176368 | ASXL3 | c.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 |
18 | g.33739205C>T | CA402176369 | ASXL3 | c.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 |
18 | g.33739206A>C | CA402176370 | ASXL3 | c.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) | |
18 | g.33739206A>G | CA402176371 | ASXL3 | c.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) | |
18 | g.33739206A>T | CA402176372 | ASXL3 | c.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) | |
18 | g.33739206dup | CA1139666022 | ASXL3 | c.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 |
18 | g.33739207G>A | CA503768750 | ASXL3 | c.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=) | |
18 | g.33739207G>C | CA402176373 | ASXL3 | c.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) | |
18 | g.33739207G>T | CA402176374 | ASXL3 | c.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 |
18 | g.33739208C>A | CA402176375 | ASXL3 | c.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) | |
18 | g.33739208C>G | CA402176377 | ASXL3 | c.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) | |
18 | g.33739208C>T | CA402176376 | ASXL3 | c.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 |
18 | g.33739209T>A | CA402176378 | ASXL3 | c.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) | |
18 | g.33739209T>C | CA402176379 | ASXL3 | c.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 |
18 | g.33739209T>G | CA402176380 | ASXL3 | c.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) | |
18 | g.33739209T= | CA2294855870 | ASXL3 | c.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=) | |
18 | g.33739210T>A | CA503768755 | ASXL3 | c.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=) | |
18 | g.33739210T>C | CA503768756 | ASXL3 | c.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=) | |
18 | g.33739210T>G | CA503768758 | ASXL3 | c.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 |
18 | g.33739211T>A | CA402176381 | ASXL3 | c.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 |
18 | g.33739211T>C | CA402176382 | ASXL3 | c.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) | |
18 | g.33739211T>G | CA8933814 | ASXL3 | c.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 |
18 | g.33739211T= | CA2294855871 | ASXL3 | c.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=) | |
18 | g.33739212C>A | CA402176383 | ASXL3 | c.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 |
18 | g.33739212C= | CA2294855872 | ASXL3 | c.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=) | |
18 | g.33739212C>G | CA402176384 | ASXL3 | c.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 |
18 | g.33739212C>T | CA8933815 | ASXL3 | c.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 |
18 | g.33739213A>C | CA503768761 | ASXL3 | c.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=) | |
18 | g.33739213A>G | CA503768765 | ASXL3 | c.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=) | |
18 | g.33739213A>T | CA503768763 | ASXL3 | c.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 |
18 | g.33739214G>A | CA402176385 | ASXL3 | c.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) | |
18 | g.33739214G>C | CA402176386 | ASXL3 | c.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) | |
18 | g.33739214G>T | CA402176387 | ASXL3 | c.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) | |
18 | g.33739215A>C | CA402176388 | ASXL3 | c.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) | |
18 | g.33739215A>G | CA402176390 | ASXL3 | c.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 |
18 | g.33739215A>T | CA402176389 | ASXL3 | c.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) | |
18 | g.33739216A>C | CA402176391 | ASXL3 | c.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) | |
18 | g.33739216A>G | CA503768769 | ASXL3 | c.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=) | |
18 | g.33739216A>T | CA402176392 | ASXL3 | c.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) | |
18 | g.33739217A>C | CA402176393 | ASXL3 | c.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) | |
18 | g.33739217A>G | CA402176394 | ASXL3 | c.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) | |
18 | g.33739217A>T | CA402176395 | ASXL3 | c.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) | |
18 | g.33739218A= | CA2294855873 | ASXL3 | c.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=) | |
18 | g.33739218A>C | CA402176396 | ASXL3 | c.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) | |
18 | g.33739218A>G | CA402176397 | ASXL3 | c.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 |
18 | g.33739218A>T | CA402176398 | ASXL3 | c.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 |
18 | g.33739219T>A | CA402176399 | ASXL3 | c.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) | |
18 | g.33739219T>C | CA503768774 | ASXL3 | c.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=) | |
18 | g.33739219T>G | CA402176400 | ASXL3 | c.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) | |
18 | g.33739220G>A | CA402176401 | ASXL3 | c.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) | |
18 | g.33739220G>C | CA402176402 | ASXL3 | c.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 |
18 | g.33739220G= | CA2294855874 | ASXL3 | c.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=) | |
18 | g.33739220G>T | CA8933816 | ASXL3 | c.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 |
18 | g.33739221C>A | CA402176403 | ASXL3 | c.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) | |
18 | g.33739221C>G | CA402176404 | ASXL3 | c.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) | |
18 | g.33739221C>T | CA402176405 | ASXL3 | c.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 |
18 | g.33739222C>A | CA503768777 | ASXL3 | c.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 |
18 | g.33739222C>G | CA503768779 | ASXL3 | c.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=) | |
18 | g.33739222C>T | CA503768781 | ASXL3 | c.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=) | |
18 | g.33739223T>A | CA402176406 | ASXL3 | c.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) | |
18 | g.33739223T>C | CA402176407 | ASXL3 | c.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) | |
18 | g.33739223T>G | CA8933817 | ASXL3 | c.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 |
18 | g.33739223T= | CA2294855875 | ASXL3 | c.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=) | |
18 | g.33739224G>A | CA402176410 | ASXL3 | c.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) | |
18 | g.33739224G>C | CA402176408 | ASXL3 | c.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 |
18 | g.33739224G>T | CA402176409 | ASXL3 | c.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) | |
18 | g.33739224_33739225delinsGC | CA2294855876 | ASXL3 | c.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=) | |
18 | g.33739225del | CA1139666023 | ASXL3 | c.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 |
18 | g.33739225C>A | CA402176411 | ASXL3 | c.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) | |
18 | g.33739225C>G | CA402176412 | ASXL3 | c.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) | |
18 | g.33739225C>T | CA503768787 | ASXL3 | c.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 |
18 | g.33739226A>C | CA402176413 | ASXL3 | c.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) | |
18 | g.33739226A>G | CA402176414 | ASXL3 | c.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) | |
18 | g.33739226A>T | CA402176415 | ASXL3 | c.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) | |
18 | g.33739227T>A | CA297787038 | ASXL3 | c.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 |
18 | g.33739227T>C | CA402176418 | ASXL3 | c.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) | |
18 | g.33739227T>G | CA402176416 | ASXL3 | c.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) | |
18 | g.33739227T= | CA2294855877 | ASXL3 | c.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=) | |
18 | g.33739228C>A | CA503768790 | ASXL3 | c.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 |
18 | g.33739228C= | CA2294855878 | ASXL3 | c.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=) | |
18 | g.33739228C>G | CA8933818 | ASXL3 | c.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 |
18 | g.33739228C>T | CA503768791 | ASXL3 | c.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 |
18 | g.33739229T>A | CA402176422 | ASXL3 | c.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) | |
18 | g.33739229T>C | CA402176425 | ASXL3 | c.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) | |
18 | g.33739229T>G | CA402176427 | ASXL3 | c.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) |