Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33736196_33741393delCA1139666016ASXL3c.1085+1781_3042+950del
c.1082+1781_3039+950del
c.*206+1781_*2163+950del
c.*741+1781_*2698+950del
c.1294+1781_3251+950del
c.914+1781_2871+950del
c.962+1781_2919+950del
c.1058+1781_3015+950del
c.1004+1781_2961+950del
c.965+1781_2922+950del
 ClinVar
18g.33736199_33741395delCA915951347ASXL3c.1085+1784_3042+952del
c.1082+1784_3039+952del
c.*206+1784_*2163+952del
c.*741+1784_*2698+952del
c.1294+1784_3251+952del
c.914+1784_2871+952del
c.962+1784_2919+952del
c.1058+1784_3015+952del
c.1004+1784_2961+952del
c.965+1784_2922+952del
18g.33738833dupCA2580612974ASXL3c.1432dup (p.Ser478PhefsTer2)
c.1429dup (p.Ser477PhefsTer2)
c.*553dup (n.*553dup)
c.*1088dup (n.*1088dup)
c.1641dup (n.1641dup)
c.1261dup (p.Ser421PhefsTer2)
c.1309dup (p.Ser437PhefsTer2)
c.1405dup (p.Ser469PhefsTer2)
c.1351dup (p.Ser451PhefsTer2)
c.1312dup (p.Ser438PhefsTer2)
 ClinVar
18g.33738831T>ACA402175293ASXL3c.1430T>A (p.Phe477Tyr)
c.1427T>A (p.Phe476Tyr)
c.*551T>A (n.*551T>A)
c.*1086T>A (n.*1086T>A)
c.1639T>A (n.1639T>A)
c.1259T>A (p.Phe420Tyr)
c.1307T>A (p.Phe436Tyr)
c.1403T>A (p.Phe468Tyr)
c.1349T>A (p.Phe450Tyr)
c.1310T>A (p.Phe437Tyr)
18g.33738831T>CCA402175294ASXL3c.1430T>C (p.Phe477Ser)
c.1427T>C (p.Phe476Ser)
c.*551T>C (n.*551T>C)
c.*1086T>C (n.*1086T>C)
c.1639T>C (n.1639T>C)
c.1259T>C (p.Phe420Ser)
c.1307T>C (p.Phe436Ser)
c.1403T>C (p.Phe468Ser)
c.1349T>C (p.Phe450Ser)
c.1310T>C (p.Phe437Ser)
18g.33738831T>GCA402175295ASXL3c.1430T>G (p.Phe477Cys)
c.1427T>G (p.Phe476Cys)
c.*551T>G (n.*551T>G)
c.*1086T>G (n.*1086T>G)
c.1639T>G (n.1639T>G)
c.1259T>G (p.Phe420Cys)
c.1307T>G (p.Phe436Cys)
c.1403T>G (p.Phe468Cys)
c.1349T>G (p.Phe450Cys)
c.1310T>G (p.Phe437Cys)
18g.33738832T>ACA402175296ASXL3c.1431T>A (p.Phe477Leu)
c.1428T>A (p.Phe476Leu)
c.*552T>A (n.*552T>A)
c.*1087T>A (n.*1087T>A)
c.1640T>A (n.1640T>A)
c.1260T>A (p.Phe420Leu)
c.1308T>A (p.Phe436Leu)
c.1404T>A (p.Phe468Leu)
c.1350T>A (p.Phe450Leu)
c.1311T>A (p.Phe437Leu)
18g.33738832T>CCA503768218ASXL3c.1431T>C (p.Phe477=)
c.1428T>C (p.Phe476=)
c.*552T>C (n.*552T>C)
c.*1087T>C (n.*1087T>C)
c.1640T>C (n.1640T>C)
c.1260T>C (p.Phe420=)
c.1308T>C (p.Phe436=)
c.1404T>C (p.Phe468=)
c.1350T>C (p.Phe450=)
c.1311T>C (p.Phe437=)
18g.33738832T>GCA402175297ASXL3c.1431T>G (p.Phe477Leu)
c.1428T>G (p.Phe476Leu)
c.*552T>G (n.*552T>G)
c.*1087T>G (n.*1087T>G)
c.1640T>G (n.1640T>G)
c.1260T>G (p.Phe420Leu)
c.1308T>G (p.Phe436Leu)
c.1404T>G (p.Phe468Leu)
c.1350T>G (p.Phe450Leu)
c.1311T>G (p.Phe437Leu)
18g.33738833T>ACA402175300ASXL3c.1432T>A (p.Ser478Thr)
c.1429T>A (p.Ser477Thr)
c.*553T>A (n.*553T>A)
c.*1088T>A (n.*1088T>A)
c.1641T>A (n.1641T>A)
c.1261T>A (p.Ser421Thr)
c.1309T>A (p.Ser437Thr)
c.1405T>A (p.Ser469Thr)
c.1351T>A (p.Ser451Thr)
c.1312T>A (p.Ser438Thr)
 gnomAD v4
18g.33738833T>CCA402175298ASXL3c.1432T>C (p.Ser478Pro)
c.1429T>C (p.Ser477Pro)
c.*553T>C (n.*553T>C)
c.*1088T>C (n.*1088T>C)
c.1641T>C (n.1641T>C)
c.1261T>C (p.Ser421Pro)
c.1309T>C (p.Ser437Pro)
c.1405T>C (p.Ser469Pro)
c.1351T>C (p.Ser451Pro)
c.1312T>C (p.Ser438Pro)
18g.33738833T>GCA402175299ASXL3c.1432T>G (p.Ser478Ala)
c.1429T>G (p.Ser477Ala)
c.*553T>G (n.*553T>G)
c.*1088T>G (n.*1088T>G)
c.1641T>G (n.1641T>G)
c.1261T>G (p.Ser421Ala)
c.1309T>G (p.Ser437Ala)
c.1405T>G (p.Ser469Ala)
c.1351T>G (p.Ser451Ala)
c.1312T>G (p.Ser438Ala)
18g.33738834C>ACA402175301ASXL3c.1433C>A (p.Ser478Tyr)
c.1430C>A (p.Ser477Tyr)
c.*554C>A (n.*554C>A)
c.*1089C>A (n.*1089C>A)
c.1642C>A (n.1642C>A)
c.1262C>A (p.Ser421Tyr)
c.1310C>A (p.Ser437Tyr)
c.1406C>A (p.Ser469Tyr)
c.1352C>A (p.Ser451Tyr)
c.1313C>A (p.Ser438Tyr)
18g.33738834C>GCA402175302ASXL3c.1433C>G (p.Ser478Cys)
c.1430C>G (p.Ser477Cys)
c.*554C>G (n.*554C>G)
c.*1089C>G (n.*1089C>G)
c.1642C>G (n.1642C>G)
c.1262C>G (p.Ser421Cys)
c.1310C>G (p.Ser437Cys)
c.1406C>G (p.Ser469Cys)
c.1352C>G (p.Ser451Cys)
c.1313C>G (p.Ser438Cys)
18g.33738834C>TCA402175303ASXL3c.1433C>T (p.Ser478Phe)
c.1430C>T (p.Ser477Phe)
c.*554C>T (n.*554C>T)
c.*1089C>T (n.*1089C>T)
c.1642C>T (n.1642C>T)
c.1262C>T (p.Ser421Phe)
c.1310C>T (p.Ser437Phe)
c.1406C>T (p.Ser469Phe)
c.1352C>T (p.Ser451Phe)
c.1313C>T (p.Ser438Phe)
 COSMIC COSMIC
18g.33738835T>ACA503768219ASXL3c.1434T>A (p.Ser478=)
c.1431T>A (p.Ser477=)
c.*555T>A (n.*555T>A)
c.*1090T>A (n.*1090T>A)
c.1643T>A (n.1643T>A)
c.1263T>A (p.Ser421=)
c.1311T>A (p.Ser437=)
c.1407T>A (p.Ser469=)
c.1353T>A (p.Ser451=)
c.1314T>A (p.Ser438=)
18g.33738835T>CCA503768220ASXL3c.1434T>C (p.Ser478=)
c.1431T>C (p.Ser477=)
c.*555T>C (n.*555T>C)
c.*1090T>C (n.*1090T>C)
c.1643T>C (n.1643T>C)
c.1263T>C (p.Ser421=)
c.1311T>C (p.Ser437=)
c.1407T>C (p.Ser469=)
c.1353T>C (p.Ser451=)
c.1314T>C (p.Ser438=)
 gnomAD v4
18g.33738835T>GCA503768221ASXL3c.1434T>G (p.Ser478=)
c.1431T>G (p.Ser477=)
c.*555T>G (n.*555T>G)
c.*1090T>G (n.*1090T>G)
c.1643T>G (n.1643T>G)
c.1263T>G (p.Ser421=)
c.1311T>G (p.Ser437=)
c.1407T>G (p.Ser469=)
c.1353T>G (p.Ser451=)
c.1314T>G (p.Ser438=)
18g.33738836G>ACA402175304ASXL3c.1435G>A (p.Glu479Lys)
c.1432G>A (p.Glu478Lys)
c.*556G>A (n.*556G>A)
c.*1091G>A (n.*1091G>A)
c.1644G>A (n.1644G>A)
c.1264G>A (p.Glu422Lys)
c.1312G>A (p.Glu438Lys)
c.1408G>A (p.Glu470Lys)
c.1354G>A (p.Glu452Lys)
c.1315G>A (p.Glu439Lys)
 COSMIC COSMIC
18g.33738836G>CCA402175305ASXL3c.1435G>C (p.Glu479Gln)
c.1432G>C (p.Glu478Gln)
c.*556G>C (n.*556G>C)
c.*1091G>C (n.*1091G>C)
c.1644G>C (n.1644G>C)
c.1264G>C (p.Glu422Gln)
c.1312G>C (p.Glu438Gln)
c.1408G>C (p.Glu470Gln)
c.1354G>C (p.Glu452Gln)
c.1315G>C (p.Glu439Gln)
18g.33738836G>TCA402175306ASXL3c.1435G>T (p.Glu479Ter)
c.1432G>T (p.Glu478Ter)
c.*556G>T (n.*556G>T)
c.*1091G>T (n.*1091G>T)
c.1644G>T (n.1644G>T)
c.1264G>T (p.Glu422Ter)
c.1312G>T (p.Glu438Ter)
c.1408G>T (p.Glu470Ter)
c.1354G>T (p.Glu452Ter)
c.1315G>T (p.Glu439Ter)
18g.33738840_33738842delCA2641456703ASXL3c.1439_1441del (p.Glu480del)
c.1436_1438del (p.Glu479del)
c.*560_*562del (n.*560_*562del)
c.*1095_*1097del (n.*1095_*1097del)
c.1648_1650del (n.1648_1650del)
c.1268_1270del (p.Glu423del)
c.1316_1318del (p.Glu439del)
c.1412_1414del (p.Glu471del)
c.1358_1360del (p.Glu453del)
c.1319_1321del (p.Glu440del)
 gnomAD v4
18g.33738837A=CA2294855700ASXL3c.1436A= (p.Glu479=)
c.1433A= (p.Glu478=)
c.*557A= (n.*557A=)
c.*1092A= (n.*1092A=)
c.1645A= (n.1645A=)
c.1265A= (p.Glu422=)
c.1313A= (p.Glu438=)
c.1409A= (p.Glu470=)
c.1355A= (p.Glu452=)
c.1316A= (p.Glu439=)
18g.33738837A>CCA402175308ASXL3c.1436A>C (p.Glu479Ala)
c.1433A>C (p.Glu478Ala)
c.*557A>C (n.*557A>C)
c.*1092A>C (n.*1092A>C)
c.1645A>C (n.1645A>C)
c.1265A>C (p.Glu422Ala)
c.1313A>C (p.Glu438Ala)
c.1409A>C (p.Glu470Ala)
c.1355A>C (p.Glu452Ala)
c.1316A>C (p.Glu439Ala)
18g.33738837A>GCA402175309ASXL3c.1436A>G (p.Glu479Gly)
c.1433A>G (p.Glu478Gly)
c.*557A>G (n.*557A>G)
c.*1092A>G (n.*1092A>G)
c.1645A>G (n.1645A>G)
c.1265A>G (p.Glu422Gly)
c.1313A>G (p.Glu438Gly)
c.1409A>G (p.Glu470Gly)
c.1355A>G (p.Glu452Gly)
c.1316A>G (p.Glu439Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.33738837A>TCA402175307ASXL3c.1436A>T (p.Glu479Val)
c.1433A>T (p.Glu478Val)
c.*557A>T (n.*557A>T)
c.*1092A>T (n.*1092A>T)
c.1645A>T (n.1645A>T)
c.1265A>T (p.Glu422Val)
c.1313A>T (p.Glu438Val)
c.1409A>T (p.Glu470Val)
c.1355A>T (p.Glu452Val)
c.1316A>T (p.Glu439Val)
18g.33738838G>ACA503768312ASXL3c.1437G>A (p.Glu479=)
c.1434G>A (p.Glu478=)
c.*558G>A (n.*558G>A)
c.*1093G>A (n.*1093G>A)
c.1646G>A (n.1646G>A)
c.1266G>A (p.Glu422=)
c.1314G>A (p.Glu438=)
c.1410G>A (p.Glu470=)
c.1356G>A (p.Glu452=)
c.1317G>A (p.Glu439=)
18g.33738838G>CCA402175311ASXL3c.1437G>C (p.Glu479Asp)
c.1434G>C (p.Glu478Asp)
c.*558G>C (n.*558G>C)
c.*1093G>C (n.*1093G>C)
c.1646G>C (n.1646G>C)
c.1266G>C (p.Glu422Asp)
c.1314G>C (p.Glu438Asp)
c.1410G>C (p.Glu470Asp)
c.1356G>C (p.Glu452Asp)
c.1317G>C (p.Glu439Asp)
18g.33738838G>TCA402175310ASXL3c.1437G>T (p.Glu479Asp)
c.1434G>T (p.Glu478Asp)
c.*558G>T (n.*558G>T)
c.*1093G>T (n.*1093G>T)
c.1646G>T (n.1646G>T)
c.1266G>T (p.Glu422Asp)
c.1314G>T (p.Glu438Asp)
c.1410G>T (p.Glu470Asp)
c.1356G>T (p.Glu452Asp)
c.1317G>T (p.Glu439Asp)
18g.33738839G>ACA402175312ASXL3c.1438G>A (p.Glu480Lys)
c.1435G>A (p.Glu479Lys)
c.*559G>A (n.*559G>A)
c.*1094G>A (n.*1094G>A)
c.1647G>A (n.1647G>A)
c.1267G>A (p.Glu423Lys)
c.1315G>A (p.Glu439Lys)
c.1411G>A (p.Glu471Lys)
c.1357G>A (p.Glu453Lys)
c.1318G>A (p.Glu440Lys)
18g.33738839G>CCA402175313ASXL3c.1438G>C (p.Glu480Gln)
c.1435G>C (p.Glu479Gln)
c.*559G>C (n.*559G>C)
c.*1094G>C (n.*1094G>C)
c.1647G>C (n.1647G>C)
c.1267G>C (p.Glu423Gln)
c.1315G>C (p.Glu439Gln)
c.1411G>C (p.Glu471Gln)
c.1357G>C (p.Glu453Gln)
c.1318G>C (p.Glu440Gln)
18g.33738839G>TCA402175314ASXL3c.1438G>T (p.Glu480Ter)
c.1435G>T (p.Glu479Ter)
c.*559G>T (n.*559G>T)
c.*1094G>T (n.*1094G>T)
c.1647G>T (n.1647G>T)
c.1267G>T (p.Glu423Ter)
c.1315G>T (p.Glu439Ter)
c.1411G>T (p.Glu471Ter)
c.1357G>T (p.Glu453Ter)
c.1318G>T (p.Glu440Ter)
18g.33738840A>CCA402175315ASXL3c.1439A>C (p.Glu480Ala)
c.1436A>C (p.Glu479Ala)
c.*560A>C (n.*560A>C)
c.*1095A>C (n.*1095A>C)
c.1648A>C (n.1648A>C)
c.1268A>C (p.Glu423Ala)
c.1316A>C (p.Glu439Ala)
c.1412A>C (p.Glu471Ala)
c.1358A>C (p.Glu453Ala)
c.1319A>C (p.Glu440Ala)
 gnomAD v4
18g.33738840A>GCA402175316ASXL3c.1439A>G (p.Glu480Gly)
c.1436A>G (p.Glu479Gly)
c.*560A>G (n.*560A>G)
c.*1095A>G (n.*1095A>G)
c.1648A>G (n.1648A>G)
c.1268A>G (p.Glu423Gly)
c.1316A>G (p.Glu439Gly)
c.1412A>G (p.Glu471Gly)
c.1358A>G (p.Glu453Gly)
c.1319A>G (p.Glu440Gly)
18g.33738840A>TCA402175317ASXL3c.1439A>T (p.Glu480Val)
c.1436A>T (p.Glu479Val)
c.*560A>T (n.*560A>T)
c.*1095A>T (n.*1095A>T)
c.1648A>T (n.1648A>T)
c.1268A>T (p.Glu423Val)
c.1316A>T (p.Glu439Val)
c.1412A>T (p.Glu471Val)
c.1358A>T (p.Glu453Val)
c.1319A>T (p.Glu440Val)
18g.33738841G>ACA503768317ASXL3c.1440G>A (p.Glu480=)
c.1437G>A (p.Glu479=)
c.*561G>A (n.*561G>A)
c.*1096G>A (n.*1096G>A)
c.1649G>A (n.1649G>A)
c.1269G>A (p.Glu423=)
c.1317G>A (p.Glu439=)
c.1413G>A (p.Glu471=)
c.1359G>A (p.Glu453=)
c.1320G>A (p.Glu440=)
 dbSNP gnomAD v2 gnomAD v4
18g.33738841G>CCA402175318ASXL3c.1440G>C (p.Glu480Asp)
c.1437G>C (p.Glu479Asp)
c.*561G>C (n.*561G>C)
c.*1096G>C (n.*1096G>C)
c.1649G>C (n.1649G>C)
c.1269G>C (p.Glu423Asp)
c.1317G>C (p.Glu439Asp)
c.1413G>C (p.Glu471Asp)
c.1359G>C (p.Glu453Asp)
c.1320G>C (p.Glu440Asp)
18g.33738841G=CA2294855701ASXL3c.1440G= (p.Glu480=)
c.1437G= (p.Glu479=)
c.*561G= (n.*561G=)
c.*1096G= (n.*1096G=)
c.1649G= (n.1649G=)
c.1269G= (p.Glu423=)
c.1317G= (p.Glu439=)
c.1413G= (p.Glu471=)
c.1359G= (p.Glu453=)
c.1320G= (p.Glu440=)
18g.33738841G>TCA402175319ASXL3c.1440G>T (p.Glu480Asp)
c.1437G>T (p.Glu479Asp)
c.*561G>T (n.*561G>T)
c.*1096G>T (n.*1096G>T)
c.1649G>T (n.1649G>T)
c.1269G>T (p.Glu423Asp)
c.1317G>T (p.Glu439Asp)
c.1413G>T (p.Glu471Asp)
c.1359G>T (p.Glu453Asp)
c.1320G>T (p.Glu440Asp)
18g.33738842G>ACA402175320ASXL3c.1441G>A (p.Ala481Thr)
c.1438G>A (p.Ala480Thr)
c.*562G>A (n.*562G>A)
c.*1097G>A (n.*1097G>A)
c.1650G>A (n.1650G>A)
c.1270G>A (p.Ala424Thr)
c.1318G>A (p.Ala440Thr)
c.1414G>A (p.Ala472Thr)
c.1360G>A (p.Ala454Thr)
c.1321G>A (p.Ala441Thr)
18g.33738842G>CCA402175321ASXL3c.1441G>C (p.Ala481Pro)
c.1438G>C (p.Ala480Pro)
c.*562G>C (n.*562G>C)
c.*1097G>C (n.*1097G>C)
c.1650G>C (n.1650G>C)
c.1270G>C (p.Ala424Pro)
c.1318G>C (p.Ala440Pro)
c.1414G>C (p.Ala472Pro)
c.1360G>C (p.Ala454Pro)
c.1321G>C (p.Ala441Pro)
18g.33738842G>TCA402175322ASXL3c.1441G>T (p.Ala481Ser)
c.1438G>T (p.Ala480Ser)
c.*562G>T (n.*562G>T)
c.*1097G>T (n.*1097G>T)
c.1650G>T (n.1650G>T)
c.1270G>T (p.Ala424Ser)
c.1318G>T (p.Ala440Ser)
c.1414G>T (p.Ala472Ser)
c.1360G>T (p.Ala454Ser)
c.1321G>T (p.Ala441Ser)
18g.33738843C>ACA402175325ASXL3c.1442C>A (p.Ala481Asp)
c.1439C>A (p.Ala480Asp)
c.*563C>A (n.*563C>A)
c.*1098C>A (n.*1098C>A)
c.1651C>A (n.1651C>A)
c.1271C>A (p.Ala424Asp)
c.1319C>A (p.Ala440Asp)
c.1415C>A (p.Ala472Asp)
c.1361C>A (p.Ala454Asp)
c.1322C>A (p.Ala441Asp)
18g.33738843C=CA2294855702ASXL3c.1442C= (p.Ala481=)
c.1439C= (p.Ala480=)
c.*563C= (n.*563C=)
c.*1098C= (n.*1098C=)
c.1651C= (n.1651C=)
c.1271C= (p.Ala424=)
c.1319C= (p.Ala440=)
c.1415C= (p.Ala472=)
c.1361C= (p.Ala454=)
c.1322C= (p.Ala441=)
18g.33738843C>GCA402175323ASXL3c.1442C>G (p.Ala481Gly)
c.1439C>G (p.Ala480Gly)
c.*563C>G (n.*563C>G)
c.*1098C>G (n.*1098C>G)
c.1651C>G (n.1651C>G)
c.1271C>G (p.Ala424Gly)
c.1319C>G (p.Ala440Gly)
c.1415C>G (p.Ala472Gly)
c.1361C>G (p.Ala454Gly)
c.1322C>G (p.Ala441Gly)
18g.33738843C>TCA402175324ASXL3c.1442C>T (p.Ala481Val)
c.1439C>T (p.Ala480Val)
c.*563C>T (n.*563C>T)
c.*1098C>T (n.*1098C>T)
c.1651C>T (n.1651C>T)
c.1271C>T (p.Ala424Val)
c.1319C>T (p.Ala440Val)
c.1415C>T (p.Ala472Val)
c.1361C>T (p.Ala454Val)
c.1322C>T (p.Ala441Val)
 dbSNP
18g.33738844T>ACA503768321ASXL3c.1443T>A (p.Ala481=)
c.1440T>A (p.Ala480=)
c.*564T>A (n.*564T>A)
c.*1099T>A (n.*1099T>A)
c.1652T>A (n.1652T>A)
c.1272T>A (p.Ala424=)
c.1320T>A (p.Ala440=)
c.1416T>A (p.Ala472=)
c.1362T>A (p.Ala454=)
c.1323T>A (p.Ala441=)
18g.33738844T>CCA503768322ASXL3c.1443T>C (p.Ala481=)
c.1440T>C (p.Ala480=)
c.*564T>C (n.*564T>C)
c.*1099T>C (n.*1099T>C)
c.1652T>C (n.1652T>C)
c.1272T>C (p.Ala424=)
c.1320T>C (p.Ala440=)
c.1416T>C (p.Ala472=)
c.1362T>C (p.Ala454=)
c.1323T>C (p.Ala441=)
 dbSNP
18g.33738844T>GCA503768323ASXL3c.1443T>G (p.Ala481=)
c.1440T>G (p.Ala480=)
c.*564T>G (n.*564T>G)
c.*1099T>G (n.*1099T>G)
c.1652T>G (n.1652T>G)
c.1272T>G (p.Ala424=)
c.1320T>G (p.Ala440=)
c.1416T>G (p.Ala472=)
c.1362T>G (p.Ala454=)
c.1323T>G (p.Ala441=)
18g.33738845G>ACA402175326ASXL3c.1444G>A (p.Glu482Lys)
c.1441G>A (p.Glu481Lys)
c.*565G>A (n.*565G>A)
c.*1100G>A (n.*1100G>A)
c.1653G>A (n.1653G>A)
c.1273G>A (p.Glu425Lys)
c.1321G>A (p.Glu441Lys)
c.1417G>A (p.Glu473Lys)
c.1363G>A (p.Glu455Lys)
c.1324G>A (p.Glu442Lys)
18g.33738845G>CCA402175327ASXL3c.1444G>C (p.Glu482Gln)
c.1441G>C (p.Glu481Gln)
c.*565G>C (n.*565G>C)
c.*1100G>C (n.*1100G>C)
c.1653G>C (n.1653G>C)
c.1273G>C (p.Glu425Gln)
c.1321G>C (p.Glu441Gln)
c.1417G>C (p.Glu473Gln)
c.1363G>C (p.Glu455Gln)
c.1324G>C (p.Glu442Gln)
 dbSNP
18g.33738845G=CA2294855704ASXL3c.1444G= (p.Glu482=)
c.1441G= (p.Glu481=)
c.*565G= (n.*565G=)
c.*1100G= (n.*1100G=)
c.1653G= (n.1653G=)
c.1273G= (p.Glu425=)
c.1321G= (p.Glu441=)
c.1417G= (p.Glu473=)
c.1363G= (p.Glu455=)
c.1324G= (p.Glu442=)
18g.33738845G>TCA402175328ASXL3c.1444G>T (p.Glu482Ter)
c.1441G>T (p.Glu481Ter)
c.*565G>T (n.*565G>T)
c.*1100G>T (n.*1100G>T)
c.1653G>T (n.1653G>T)
c.1273G>T (p.Glu425Ter)
c.1321G>T (p.Glu441Ter)
c.1417G>T (p.Glu473Ter)
c.1363G>T (p.Glu455Ter)
c.1324G>T (p.Glu442Ter)
18g.33738845_33738846delinsGACA2294855703ASXL3c.1444_1445delinsGA (p.Glu482=)
c.1441_1442delinsGA (p.Glu481=)
c.*565_*566delinsGA (n.*565_*566delinsGA)
c.*1100_*1101delinsGA (n.*1100_*1101delinsGA)
c.1653_1654delinsGA (n.1653_1654delinsGA)
c.1273_1274delinsGA (p.Glu425=)
c.1321_1322delinsGA (p.Glu441=)
c.1417_1418delinsGA (p.Glu473=)
c.1363_1364delinsGA (p.Glu455=)
c.1324_1325delinsGA (p.Glu442=)
18g.33738846A=CA2294855706ASXL3c.1445A= (p.Glu482=)
c.1442A= (p.Glu481=)
c.*566A= (n.*566A=)
c.*1101A= (n.*1101A=)
c.1654A= (n.1654A=)
c.1274A= (p.Glu425=)
c.1322A= (p.Glu441=)
c.1418A= (p.Glu473=)
c.1364A= (p.Glu455=)
c.1325A= (p.Glu442=)
18g.33738846A>CCA402175329ASXL3c.1445A>C (p.Glu482Ala)
c.1442A>C (p.Glu481Ala)
c.*566A>C (n.*566A>C)
c.*1101A>C (n.*1101A>C)
c.1654A>C (n.1654A>C)
c.1274A>C (p.Glu425Ala)
c.1322A>C (p.Glu441Ala)
c.1418A>C (p.Glu473Ala)
c.1364A>C (p.Glu455Ala)
c.1325A>C (p.Glu442Ala)
18g.33738846A>GCA402175330ASXL3c.1445A>G (p.Glu482Gly)
c.1442A>G (p.Glu481Gly)
c.*566A>G (n.*566A>G)
c.*1101A>G (n.*1101A>G)
c.1654A>G (n.1654A>G)
c.1274A>G (p.Glu425Gly)
c.1322A>G (p.Glu441Gly)
c.1418A>G (p.Glu473Gly)
c.1364A>G (p.Glu455Gly)
c.1325A>G (p.Glu442Gly)
18g.33738846A>TCA402175331ASXL3c.1445A>T (p.Glu482Val)
c.1442A>T (p.Glu481Val)
c.*566A>T (n.*566A>T)
c.*1101A>T (n.*1101A>T)
c.1654A>T (n.1654A>T)
c.1274A>T (p.Glu425Val)
c.1322A>T (p.Glu441Val)
c.1418A>T (p.Glu473Val)
c.1364A>T (p.Glu455Val)
c.1325A>T (p.Glu442Val)
 dbSNP
18g.33738848delCA2294855705ASXL3c.1447del (p.Ser483ValfsTer2)
c.1444del (p.Ser482ValfsTer2)
c.*568del (n.*568del)
c.*1103del (n.*1103del)
c.1656del (n.1656del)
c.1276del (p.Ser426ValfsTer2)
c.1324del (p.Ser442ValfsTer2)
c.1420del (p.Ser474ValfsTer2)
c.1366del (p.Ser456ValfsTer2)
c.1327del (p.Ser443ValfsTer2)
 ClinVar dbSNP
18g.33738847A>CCA402175332ASXL3c.1446A>C (p.Glu482Asp)
c.1443A>C (p.Glu481Asp)
c.*567A>C (n.*567A>C)
c.*1102A>C (n.*1102A>C)
c.1655A>C (n.1655A>C)
c.1275A>C (p.Glu425Asp)
c.1323A>C (p.Glu441Asp)
c.1419A>C (p.Glu473Asp)
c.1365A>C (p.Glu455Asp)
c.1326A>C (p.Glu442Asp)
18g.33738847A>GCA503768325ASXL3c.1446A>G (p.Glu482=)
c.1443A>G (p.Glu481=)
c.*567A>G (n.*567A>G)
c.*1102A>G (n.*1102A>G)
c.1655A>G (n.1655A>G)
c.1275A>G (p.Glu425=)
c.1323A>G (p.Glu441=)
c.1419A>G (p.Glu473=)
c.1365A>G (p.Glu455=)
c.1326A>G (p.Glu442=)
18g.33738847A>TCA402175333ASXL3c.1446A>T (p.Glu482Asp)
c.1443A>T (p.Glu481Asp)
c.*567A>T (n.*567A>T)
c.*1102A>T (n.*1102A>T)
c.1655A>T (n.1655A>T)
c.1275A>T (p.Glu425Asp)
c.1323A>T (p.Glu441Asp)
c.1419A>T (p.Glu473Asp)
c.1365A>T (p.Glu455Asp)
c.1326A>T (p.Glu442Asp)
18g.33738848A=CA2294855707ASXL3c.1447A= (p.Ser483=)
c.1444A= (p.Ser482=)
c.*568A= (n.*568A=)
c.*1103A= (n.*1103A=)
c.1656A= (n.1656A=)
c.1276A= (p.Ser426=)
c.1324A= (p.Ser442=)
c.1420A= (p.Ser474=)
c.1366A= (p.Ser456=)
c.1327A= (p.Ser443=)
18g.33738848A>CCA402175334ASXL3c.1447A>C (p.Ser483Arg)
c.1444A>C (p.Ser482Arg)
c.*568A>C (n.*568A>C)
c.*1103A>C (n.*1103A>C)
c.1656A>C (n.1656A>C)
c.1276A>C (p.Ser426Arg)
c.1324A>C (p.Ser442Arg)
c.1420A>C (p.Ser474Arg)
c.1366A>C (p.Ser456Arg)
c.1327A>C (p.Ser443Arg)
18g.33738848A>GCA8933752ASXL3c.1447A>G (p.Ser483Gly)
c.1444A>G (p.Ser482Gly)
c.*568A>G (n.*568A>G)
c.*1103A>G (n.*1103A>G)
c.1656A>G (n.1656A>G)
c.1276A>G (p.Ser426Gly)
c.1324A>G (p.Ser442Gly)
c.1420A>G (p.Ser474Gly)
c.1366A>G (p.Ser456Gly)
c.1327A>G (p.Ser443Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738848A>TCA402175335ASXL3c.1447A>T (p.Ser483Cys)
c.1444A>T (p.Ser482Cys)
c.*568A>T (n.*568A>T)
c.*1103A>T (n.*1103A>T)
c.1656A>T (n.1656A>T)
c.1276A>T (p.Ser426Cys)
c.1324A>T (p.Ser442Cys)
c.1420A>T (p.Ser474Cys)
c.1366A>T (p.Ser456Cys)
c.1327A>T (p.Ser443Cys)
18g.33738849G>ACA402175338ASXL3c.1448G>A (p.Ser483Asn)
c.1445G>A (p.Ser482Asn)
c.*569G>A (n.*569G>A)
c.*1104G>A (n.*1104G>A)
c.1657G>A (n.1657G>A)
c.1277G>A (p.Ser426Asn)
c.1325G>A (p.Ser442Asn)
c.1421G>A (p.Ser474Asn)
c.1367G>A (p.Ser456Asn)
c.1328G>A (p.Ser443Asn)
 gnomAD v4
18g.33738849G>CCA402175340ASXL3c.1448G>C (p.Ser483Thr)
c.1445G>C (p.Ser482Thr)
c.*569G>C (n.*569G>C)
c.*1104G>C (n.*1104G>C)
c.1657G>C (n.1657G>C)
c.1277G>C (p.Ser426Thr)
c.1325G>C (p.Ser442Thr)
c.1421G>C (p.Ser474Thr)
c.1367G>C (p.Ser456Thr)
c.1328G>C (p.Ser443Thr)
 gnomAD v4
18g.33738849G>TCA402175336ASXL3c.1448G>T (p.Ser483Ile)
c.1445G>T (p.Ser482Ile)
c.*569G>T (n.*569G>T)
c.*1104G>T (n.*1104G>T)
c.1657G>T (n.1657G>T)
c.1277G>T (p.Ser426Ile)
c.1325G>T (p.Ser442Ile)
c.1421G>T (p.Ser474Ile)
c.1367G>T (p.Ser456Ile)
c.1328G>T (p.Ser443Ile)
18g.33738850T>ACA402175343ASXL3c.1449T>A (p.Ser483Arg)
c.1446T>A (p.Ser482Arg)
c.*570T>A (n.*570T>A)
c.*1105T>A (n.*1105T>A)
c.1658T>A (n.1658T>A)
c.1278T>A (p.Ser426Arg)
c.1326T>A (p.Ser442Arg)
c.1422T>A (p.Ser474Arg)
c.1368T>A (p.Ser456Arg)
c.1329T>A (p.Ser443Arg)
18g.33738850T>CCA503768329ASXL3c.1449T>C (p.Ser483=)
c.1446T>C (p.Ser482=)
c.*570T>C (n.*570T>C)
c.*1105T>C (n.*1105T>C)
c.1658T>C (n.1658T>C)
c.1278T>C (p.Ser426=)
c.1326T>C (p.Ser442=)
c.1422T>C (p.Ser474=)
c.1368T>C (p.Ser456=)
c.1329T>C (p.Ser443=)
18g.33738850T>GCA402175345ASXL3c.1449T>G (p.Ser483Arg)
c.1446T>G (p.Ser482Arg)
c.*570T>G (n.*570T>G)
c.*1105T>G (n.*1105T>G)
c.1658T>G (n.1658T>G)
c.1278T>G (p.Ser426Arg)
c.1326T>G (p.Ser442Arg)
c.1422T>G (p.Ser474Arg)
c.1368T>G (p.Ser456Arg)
c.1329T>G (p.Ser443Arg)
 gnomAD v4
18g.33738851C>ACA402175348ASXL3c.1450C>A (p.Leu484Ile)
c.1447C>A (p.Leu483Ile)
c.*571C>A (n.*571C>A)
c.*1106C>A (n.*1106C>A)
c.1659C>A (n.1659C>A)
c.1279C>A (p.Leu427Ile)
c.1327C>A (p.Leu443Ile)
c.1423C>A (p.Leu475Ile)
c.1369C>A (p.Leu457Ile)
c.1330C>A (p.Leu444Ile)
18g.33738851C=CA2294855708ASXL3c.1450C= (p.Leu484=)
c.1447C= (p.Leu483=)
c.*571C= (n.*571C=)
c.*1106C= (n.*1106C=)
c.1659C= (n.1659C=)
c.1279C= (p.Leu427=)
c.1327C= (p.Leu443=)
c.1423C= (p.Leu475=)
c.1369C= (p.Leu457=)
c.1330C= (p.Leu444=)
18g.33738851C>GCA402175350ASXL3c.1450C>G (p.Leu484Val)
c.1447C>G (p.Leu483Val)
c.*571C>G (n.*571C>G)
c.*1106C>G (n.*1106C>G)
c.1659C>G (n.1659C>G)
c.1279C>G (p.Leu427Val)
c.1327C>G (p.Leu443Val)
c.1423C>G (p.Leu475Val)
c.1369C>G (p.Leu457Val)
c.1330C>G (p.Leu444Val)
18g.33738851C>TCA503768330ASXL3c.1450C>T (p.Leu484=)
c.1447C>T (p.Leu483=)
c.*571C>T (n.*571C>T)
c.*1106C>T (n.*1106C>T)
c.1659C>T (n.1659C>T)
c.1279C>T (p.Leu427=)
c.1327C>T (p.Leu443=)
c.1423C>T (p.Leu475=)
c.1369C>T (p.Leu457=)
c.1330C>T (p.Leu444=)
18g.33738852T>ACA402175353ASXL3c.1451T>A (p.Leu484Gln)
c.1448T>A (p.Leu483Gln)
c.*572T>A (n.*572T>A)
c.*1107T>A (n.*1107T>A)
c.1660T>A (n.1660T>A)
c.1280T>A (p.Leu427Gln)
c.1328T>A (p.Leu443Gln)
c.1424T>A (p.Leu475Gln)
c.1370T>A (p.Leu457Gln)
c.1331T>A (p.Leu444Gln)
18g.33738852T>CCA402175355ASXL3c.1451T>C (p.Leu484Pro)
c.1448T>C (p.Leu483Pro)
c.*572T>C (n.*572T>C)
c.*1107T>C (n.*1107T>C)
c.1660T>C (n.1660T>C)
c.1280T>C (p.Leu427Pro)
c.1328T>C (p.Leu443Pro)
c.1424T>C (p.Leu475Pro)
c.1370T>C (p.Leu457Pro)
c.1331T>C (p.Leu444Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.33738852T>GCA402175357ASXL3c.1451T>G (p.Leu484Arg)
c.1448T>G (p.Leu483Arg)
c.*572T>G (n.*572T>G)
c.*1107T>G (n.*1107T>G)
c.1660T>G (n.1660T>G)
c.1280T>G (p.Leu427Arg)
c.1328T>G (p.Leu443Arg)
c.1424T>G (p.Leu475Arg)
c.1370T>G (p.Leu457Arg)
c.1331T>G (p.Leu444Arg)
18g.33738852T=CA2294855709ASXL3c.1451T= (p.Leu484=)
c.1448T= (p.Leu483=)
c.*572T= (n.*572T=)
c.*1107T= (n.*1107T=)
c.1660T= (n.1660T=)
c.1280T= (p.Leu427=)
c.1328T= (p.Leu443=)
c.1424T= (p.Leu475=)
c.1370T= (p.Leu457=)
c.1331T= (p.Leu444=)
18g.33738852dupCA658799026ASXL3c.1451dup (p.Thr485AsnfsTer5)
c.1448dup (p.Thr484AsnfsTer5)
c.*572dup (n.*572dup)
c.*1107dup (n.*1107dup)
c.1660dup (n.1660dup)
c.1280dup (p.Thr428AsnfsTer5)
c.1328dup (p.Thr444AsnfsTer5)
c.1424dup (p.Thr476AsnfsTer5)
c.1370dup (p.Thr458AsnfsTer5)
c.1331dup (p.Thr445AsnfsTer5)
 ClinVar dbSNP
18g.33738853A=CA2294855710ASXL3c.1452A= (p.Leu484=)
c.1449A= (p.Leu483=)
c.*573A= (n.*573A=)
c.*1108A= (n.*1108A=)
c.1661A= (n.1661A=)
c.1281A= (p.Leu427=)
c.1329A= (p.Leu443=)
c.1425A= (p.Leu475=)
c.1371A= (p.Leu457=)
c.1332A= (p.Leu444=)
18g.33738853A>CCA503768336ASXL3c.1452A>C (p.Leu484=)
c.1449A>C (p.Leu483=)
c.*573A>C (n.*573A>C)
c.*1108A>C (n.*1108A>C)
c.1661A>C (n.1661A>C)
c.1281A>C (p.Leu427=)
c.1329A>C (p.Leu443=)
c.1425A>C (p.Leu475=)
c.1371A>C (p.Leu457=)
c.1332A>C (p.Leu444=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738853A>GCA503768335ASXL3c.1452A>G (p.Leu484=)
c.1449A>G (p.Leu483=)
c.*573A>G (n.*573A>G)
c.*1108A>G (n.*1108A>G)
c.1661A>G (n.1661A>G)
c.1281A>G (p.Leu427=)
c.1329A>G (p.Leu443=)
c.1425A>G (p.Leu475=)
c.1371A>G (p.Leu457=)
c.1332A>G (p.Leu444=)
18g.33738853A>TCA503768334ASXL3c.1452A>T (p.Leu484=)
c.1449A>T (p.Leu483=)
c.*573A>T (n.*573A>T)
c.*1108A>T (n.*1108A>T)
c.1661A>T (n.1661A>T)
c.1281A>T (p.Leu427=)
c.1329A>T (p.Leu443=)
c.1425A>T (p.Leu475=)
c.1371A>T (p.Leu457=)
c.1332A>T (p.Leu444=)
18g.33738855_33738858delCA2695227379ASXL3c.1454_1457del (p.Thr485IlefsTer8)
c.1451_1454del (p.Thr484IlefsTer8)
c.*575_*578del (n.*575_*578del)
c.*1110_*1113del (n.*1110_*1113del)
c.1663_1666del (n.1663_1666del)
c.1283_1286del (p.Thr428IlefsTer8)
c.1331_1334del (p.Thr444IlefsTer8)
c.1427_1430del (p.Thr476IlefsTer8)
c.1373_1376del (p.Thr458IlefsTer8)
c.1334_1337del (p.Thr445IlefsTer8)
18g.33738854A>CCA402175359ASXL3c.1453A>C (p.Thr485Pro)
c.1450A>C (p.Thr484Pro)
c.*574A>C (n.*574A>C)
c.*1109A>C (n.*1109A>C)
c.1662A>C (n.1662A>C)
c.1282A>C (p.Thr428Pro)
c.1330A>C (p.Thr444Pro)
c.1426A>C (p.Thr476Pro)
c.1372A>C (p.Thr458Pro)
c.1333A>C (p.Thr445Pro)
 COSMIC COSMIC
18g.33738854A>GCA402175362ASXL3c.1453A>G (p.Thr485Ala)
c.1450A>G (p.Thr484Ala)
c.*574A>G (n.*574A>G)
c.*1109A>G (n.*1109A>G)
c.1662A>G (n.1662A>G)
c.1282A>G (p.Thr428Ala)
c.1330A>G (p.Thr444Ala)
c.1426A>G (p.Thr476Ala)
c.1372A>G (p.Thr458Ala)
c.1333A>G (p.Thr445Ala)
 COSMIC COSMIC
18g.33738854A>TCA402175364ASXL3c.1453A>T (p.Thr485Ser)
c.1450A>T (p.Thr484Ser)
c.*574A>T (n.*574A>T)
c.*1109A>T (n.*1109A>T)
c.1662A>T (n.1662A>T)
c.1282A>T (p.Thr428Ser)
c.1330A>T (p.Thr444Ser)
c.1426A>T (p.Thr476Ser)
c.1372A>T (p.Thr458Ser)
c.1333A>T (p.Thr445Ser)
18g.33738855C>ACA402175367ASXL3c.1454C>A (p.Thr485Asn)
c.1451C>A (p.Thr484Asn)
c.*575C>A (n.*575C>A)
c.*1110C>A (n.*1110C>A)
c.1663C>A (n.1663C>A)
c.1283C>A (p.Thr428Asn)
c.1331C>A (p.Thr444Asn)
c.1427C>A (p.Thr476Asn)
c.1373C>A (p.Thr458Asn)
c.1334C>A (p.Thr445Asn)
18g.33738855C=CA2294855711ASXL3c.1454C= (p.Thr485=)
c.1451C= (p.Thr484=)
c.*575C= (n.*575C=)
c.*1110C= (n.*1110C=)
c.1663C= (n.1663C=)
c.1283C= (p.Thr428=)
c.1331C= (p.Thr444=)
c.1427C= (p.Thr476=)
c.1373C= (p.Thr458=)
c.1334C= (p.Thr445=)
18g.33738855C>GCA402175369ASXL3c.1454C>G (p.Thr485Ser)
c.1451C>G (p.Thr484Ser)
c.*575C>G (n.*575C>G)
c.*1110C>G (n.*1110C>G)
c.1663C>G (n.1663C>G)
c.1283C>G (p.Thr428Ser)
c.1331C>G (p.Thr444Ser)
c.1427C>G (p.Thr476Ser)
c.1373C>G (p.Thr458Ser)
c.1334C>G (p.Thr445Ser)
18g.33738855C>TCA8933753ASXL3c.1454C>T (p.Thr485Ile)
c.1451C>T (p.Thr484Ile)
c.*575C>T (n.*575C>T)
c.*1110C>T (n.*1110C>T)
c.1663C>T (n.1663C>T)
c.1283C>T (p.Thr428Ile)
c.1331C>T (p.Thr444Ile)
c.1427C>T (p.Thr476Ile)
c.1373C>T (p.Thr458Ile)
c.1334C>T (p.Thr445Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738856C>ACA503768340ASXL3c.1455C>A (p.Thr485=)
c.1452C>A (p.Thr484=)
c.*576C>A (n.*576C>A)
c.*1111C>A (n.*1111C>A)
c.1664C>A (n.1664C>A)
c.1284C>A (p.Thr428=)
c.1332C>A (p.Thr444=)
c.1428C>A (p.Thr476=)
c.1374C>A (p.Thr458=)
c.1335C>A (p.Thr445=)
 gnomAD v3 gnomAD v4
18g.33738856C>GCA503768342ASXL3c.1455C>G (p.Thr485=)
c.1452C>G (p.Thr484=)
c.*576C>G (n.*576C>G)
c.*1111C>G (n.*1111C>G)
c.1664C>G (n.1664C>G)
c.1284C>G (p.Thr428=)
c.1332C>G (p.Thr444=)
c.1428C>G (p.Thr476=)
c.1374C>G (p.Thr458=)
c.1335C>G (p.Thr445=)
18g.33738856C>TCA503768341ASXL3c.1455C>T (p.Thr485=)
c.1452C>T (p.Thr484=)
c.*576C>T (n.*576C>T)
c.*1111C>T (n.*1111C>T)
c.1664C>T (n.1664C>T)
c.1284C>T (p.Thr428=)
c.1332C>T (p.Thr444=)
c.1428C>T (p.Thr476=)
c.1374C>T (p.Thr458=)
c.1335C>T (p.Thr445=)
18g.33738857A=CA2294855712ASXL3c.1456A= (p.Asn486=)
c.1453A= (p.Asn485=)
c.*577A= (n.*577A=)
c.*1112A= (n.*1112A=)
c.1665A= (n.1665A=)
c.1285A= (p.Asn429=)
c.1333A= (p.Asn445=)
c.1429A= (p.Asn477=)
c.1375A= (p.Asn459=)
c.1336A= (p.Asn446=)
18g.33738857A>CCA402175377ASXL3c.1456A>C (p.Asn486His)
c.1453A>C (p.Asn485His)
c.*577A>C (n.*577A>C)
c.*1112A>C (n.*1112A>C)
c.1665A>C (n.1665A>C)
c.1285A>C (p.Asn429His)
c.1333A>C (p.Asn445His)
c.1429A>C (p.Asn477His)
c.1375A>C (p.Asn459His)
c.1336A>C (p.Asn446His)
18g.33738857A>GCA402175376ASXL3c.1456A>G (p.Asn486Asp)
c.1453A>G (p.Asn485Asp)
c.*577A>G (n.*577A>G)
c.*1112A>G (n.*1112A>G)
c.1665A>G (n.1665A>G)
c.1285A>G (p.Asn429Asp)
c.1333A>G (p.Asn445Asp)
c.1429A>G (p.Asn477Asp)
c.1375A>G (p.Asn459Asp)
c.1336A>G (p.Asn446Asp)
 dbSNP gnomAD v2 gnomAD v4
18g.33738857A>TCA402175373ASXL3c.1456A>T (p.Asn486Tyr)
c.1453A>T (p.Asn485Tyr)
c.*577A>T (n.*577A>T)
c.*1112A>T (n.*1112A>T)
c.1665A>T (n.1665A>T)
c.1285A>T (p.Asn429Tyr)
c.1333A>T (p.Asn445Tyr)
c.1429A>T (p.Asn477Tyr)
c.1375A>T (p.Asn459Tyr)
c.1336A>T (p.Asn446Tyr)
18g.33738858A=CA2294855713ASXL3c.1457A= (p.Asn486=)
c.1454A= (p.Asn485=)
c.*578A= (n.*578A=)
c.*1113A= (n.*1113A=)
c.1666A= (n.1666A=)
c.1286A= (p.Asn429=)
c.1334A= (p.Asn445=)
c.1430A= (p.Asn477=)
c.1376A= (p.Asn459=)
c.1337A= (p.Asn446=)
18g.33738858A>CCA402175381ASXL3c.1457A>C (p.Asn486Thr)
c.1454A>C (p.Asn485Thr)
c.*578A>C (n.*578A>C)
c.*1113A>C (n.*1113A>C)
c.1666A>C (n.1666A>C)
c.1286A>C (p.Asn429Thr)
c.1334A>C (p.Asn445Thr)
c.1430A>C (p.Asn477Thr)
c.1376A>C (p.Asn459Thr)
c.1337A>C (p.Asn446Thr)
 ClinVar
18g.33738858A>GCA209344ASXL3c.1457A>G (p.Asn486Ser)
c.1454A>G (p.Asn485Ser)
c.*578A>G (n.*578A>G)
c.*1113A>G (n.*1113A>G)
c.1666A>G (n.1666A>G)
c.1286A>G (p.Asn429Ser)
c.1334A>G (p.Asn445Ser)
c.1430A>G (p.Asn477Ser)
c.1376A>G (p.Asn459Ser)
c.1337A>G (p.Asn446Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738858A>TCA402175385ASXL3c.1457A>T (p.Asn486Ile)
c.1454A>T (p.Asn485Ile)
c.*578A>T (n.*578A>T)
c.*1113A>T (n.*1113A>T)
c.1666A>T (n.1666A>T)
c.1286A>T (p.Asn429Ile)
c.1334A>T (p.Asn445Ile)
c.1430A>T (p.Asn477Ile)
c.1376A>T (p.Asn459Ile)
c.1337A>T (p.Asn446Ile)
18g.33738859T>ACA8933755ASXL3c.1458T>A (p.Asn486Lys)
c.1455T>A (p.Asn485Lys)
c.*579T>A (n.*579T>A)
c.*1114T>A (n.*1114T>A)
c.1667T>A (n.1667T>A)
c.1287T>A (p.Asn429Lys)
c.1335T>A (p.Asn445Lys)
c.1431T>A (p.Asn477Lys)
c.1377T>A (p.Asn459Lys)
c.1338T>A (p.Asn446Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738859T>CCA503768346ASXL3c.1458T>C (p.Asn486=)
c.1455T>C (p.Asn485=)
c.*579T>C (n.*579T>C)
c.*1114T>C (n.*1114T>C)
c.1667T>C (n.1667T>C)
c.1287T>C (p.Asn429=)
c.1335T>C (p.Asn445=)
c.1431T>C (p.Asn477=)
c.1377T>C (p.Asn459=)
c.1338T>C (p.Asn446=)
18g.33738859T>GCA8933754ASXL3c.1458T>G (p.Asn486Lys)
c.1455T>G (p.Asn485Lys)
c.*579T>G (n.*579T>G)
c.*1114T>G (n.*1114T>G)
c.1667T>G (n.1667T>G)
c.1287T>G (p.Asn429Lys)
c.1335T>G (p.Asn445Lys)
c.1431T>G (p.Asn477Lys)
c.1377T>G (p.Asn459Lys)
c.1338T>G (p.Asn446Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738859T=CA2294855714ASXL3c.1458T= (p.Asn486=)
c.1455T= (p.Asn485=)
c.*579T= (n.*579T=)
c.*1114T= (n.*1114T=)
c.1667T= (n.1667T=)
c.1287T= (p.Asn429=)
c.1335T= (p.Asn445=)
c.1431T= (p.Asn477=)
c.1377T= (p.Asn459=)
c.1338T= (p.Asn446=)
18g.33738860T>ACA402175391ASXL3c.1459T>A (p.Ser487Thr)
c.1456T>A (p.Ser486Thr)
c.*580T>A (n.*580T>A)
c.*1115T>A (n.*1115T>A)
c.1668T>A (n.1668T>A)
c.1288T>A (p.Ser430Thr)
c.1336T>A (p.Ser446Thr)
c.1432T>A (p.Ser478Thr)
c.1378T>A (p.Ser460Thr)
c.1339T>A (p.Ser447Thr)
18g.33738860T>CCA402175393ASXL3c.1459T>C (p.Ser487Pro)
c.1456T>C (p.Ser486Pro)
c.*580T>C (n.*580T>C)
c.*1115T>C (n.*1115T>C)
c.1668T>C (n.1668T>C)
c.1288T>C (p.Ser430Pro)
c.1336T>C (p.Ser446Pro)
c.1432T>C (p.Ser478Pro)
c.1378T>C (p.Ser460Pro)
c.1339T>C (p.Ser447Pro)
18g.33738860T>GCA402175395ASXL3c.1459T>G (p.Ser487Ala)
c.1456T>G (p.Ser486Ala)
c.*580T>G (n.*580T>G)
c.*1115T>G (n.*1115T>G)
c.1668T>G (n.1668T>G)
c.1288T>G (p.Ser430Ala)
c.1336T>G (p.Ser446Ala)
c.1432T>G (p.Ser478Ala)
c.1378T>G (p.Ser460Ala)
c.1339T>G (p.Ser447Ala)
18g.33738861C>ACA402175398ASXL3c.1460C>A (p.Ser487Tyr)
c.1457C>A (p.Ser486Tyr)
c.*581C>A (n.*581C>A)
c.*1116C>A (n.*1116C>A)
c.1669C>A (n.1669C>A)
c.1289C>A (p.Ser430Tyr)
c.1337C>A (p.Ser446Tyr)
c.1433C>A (p.Ser478Tyr)
c.1379C>A (p.Ser460Tyr)
c.1340C>A (p.Ser447Tyr)
 dbSNP
18g.33738861C>GCA402175401ASXL3c.1460C>G (p.Ser487Cys)
c.1457C>G (p.Ser486Cys)
c.*581C>G (n.*581C>G)
c.*1116C>G (n.*1116C>G)
c.1669C>G (n.1669C>G)
c.1289C>G (p.Ser430Cys)
c.1337C>G (p.Ser446Cys)
c.1433C>G (p.Ser478Cys)
c.1379C>G (p.Ser460Cys)
c.1340C>G (p.Ser447Cys)
18g.33738861C>TCA402175403ASXL3c.1460C>T (p.Ser487Phe)
c.1457C>T (p.Ser486Phe)
c.*581C>T (n.*581C>T)
c.*1116C>T (n.*1116C>T)
c.1669C>T (n.1669C>T)
c.1289C>T (p.Ser430Phe)
c.1337C>T (p.Ser446Phe)
c.1433C>T (p.Ser478Phe)
c.1379C>T (p.Ser460Phe)
c.1340C>T (p.Ser447Phe)
18g.33738862delCA2695227380ASXL3c.1461del (p.His488MetfsTer6)
c.1458del (p.His487MetfsTer6)
c.*582del (n.*582del)
c.*1117del (n.*1117del)
c.1670del (n.1670del)
c.1290del (p.His431MetfsTer6)
c.1338del (p.His447MetfsTer6)
c.1434del (p.His479MetfsTer6)
c.1380del (p.His461MetfsTer6)
c.1341del (p.His448MetfsTer6)
18g.33738862T>ACA503768350ASXL3c.1461T>A (p.Ser487=)
c.1458T>A (p.Ser486=)
c.*582T>A (n.*582T>A)
c.*1117T>A (n.*1117T>A)
c.1670T>A (n.1670T>A)
c.1290T>A (p.Ser430=)
c.1338T>A (p.Ser446=)
c.1434T>A (p.Ser478=)
c.1380T>A (p.Ser460=)
c.1341T>A (p.Ser447=)
18g.33738862T>CCA503768351ASXL3c.1461T>C (p.Ser487=)
c.1458T>C (p.Ser486=)
c.*582T>C (n.*582T>C)
c.*1117T>C (n.*1117T>C)
c.1670T>C (n.1670T>C)
c.1290T>C (p.Ser430=)
c.1338T>C (p.Ser446=)
c.1434T>C (p.Ser478=)
c.1380T>C (p.Ser460=)
c.1341T>C (p.Ser447=)
18g.33738862T>GCA503768352ASXL3c.1461T>G (p.Ser487=)
c.1458T>G (p.Ser486=)
c.*582T>G (n.*582T>G)
c.*1117T>G (n.*1117T>G)
c.1670T>G (n.1670T>G)
c.1290T>G (p.Ser430=)
c.1338T>G (p.Ser446=)
c.1434T>G (p.Ser478=)
c.1380T>G (p.Ser460=)
c.1341T>G (p.Ser447=)
18g.33738863C>ACA402175406ASXL3c.1462C>A (p.His488Asn)
c.1459C>A (p.His487Asn)
c.*583C>A (n.*583C>A)
c.*1118C>A (n.*1118C>A)
c.1671C>A (n.1671C>A)
c.1291C>A (p.His431Asn)
c.1339C>A (p.His447Asn)
c.1435C>A (p.His479Asn)
c.1381C>A (p.His461Asn)
c.1342C>A (p.His448Asn)
18g.33738863C=CA2294855715ASXL3c.1462C= (p.His488=)
c.1459C= (p.His487=)
c.*583C= (n.*583C=)
c.*1118C= (n.*1118C=)
c.1671C= (n.1671C=)
c.1291C= (p.His431=)
c.1339C= (p.His447=)
c.1435C= (p.His479=)
c.1381C= (p.His461=)
c.1342C= (p.His448=)
18g.33738863C>GCA402175408ASXL3c.1462C>G (p.His488Asp)
c.1459C>G (p.His487Asp)
c.*583C>G (n.*583C>G)
c.*1118C>G (n.*1118C>G)
c.1671C>G (n.1671C>G)
c.1291C>G (p.His431Asp)
c.1339C>G (p.His447Asp)
c.1435C>G (p.His479Asp)
c.1381C>G (p.His461Asp)
c.1342C>G (p.His448Asp)
18g.33738863C>TCA8933756ASXL3c.1462C>T (p.His488Tyr)
c.1459C>T (p.His487Tyr)
c.*583C>T (n.*583C>T)
c.*1118C>T (n.*1118C>T)
c.1671C>T (n.1671C>T)
c.1291C>T (p.His431Tyr)
c.1339C>T (p.His447Tyr)
c.1435C>T (p.His479Tyr)
c.1381C>T (p.His461Tyr)
c.1342C>T (p.His448Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738864A>CCA402175415ASXL3c.1463A>C (p.His488Pro)
c.1460A>C (p.His487Pro)
c.*584A>C (n.*584A>C)
c.*1119A>C (n.*1119A>C)
c.1672A>C (n.1672A>C)
c.1292A>C (p.His431Pro)
c.1340A>C (p.His447Pro)
c.1436A>C (p.His479Pro)
c.1382A>C (p.His461Pro)
c.1343A>C (p.His448Pro)
 gnomAD v4
18g.33738864A>GCA402175417ASXL3c.1463A>G (p.His488Arg)
c.1460A>G (p.His487Arg)
c.*584A>G (n.*584A>G)
c.*1119A>G (n.*1119A>G)
c.1672A>G (n.1672A>G)
c.1292A>G (p.His431Arg)
c.1340A>G (p.His447Arg)
c.1436A>G (p.His479Arg)
c.1382A>G (p.His461Arg)
c.1343A>G (p.His448Arg)
18g.33738864A>TCA402175413ASXL3c.1463A>T (p.His488Leu)
c.1460A>T (p.His487Leu)
c.*584A>T (n.*584A>T)
c.*1119A>T (n.*1119A>T)
c.1672A>T (n.1672A>T)
c.1292A>T (p.His431Leu)
c.1340A>T (p.His447Leu)
c.1436A>T (p.His479Leu)
c.1382A>T (p.His461Leu)
c.1343A>T (p.His448Leu)
18g.33738865T>ACA402175423ASXL3c.1464T>A (p.His488Gln)
c.1461T>A (p.His487Gln)
c.*585T>A (n.*585T>A)
c.*1120T>A (n.*1120T>A)
c.1673T>A (n.1673T>A)
c.1293T>A (p.His431Gln)
c.1341T>A (p.His447Gln)
c.1437T>A (p.His479Gln)
c.1383T>A (p.His461Gln)
c.1344T>A (p.His448Gln)
18g.33738865T>CCA8933757ASXL3c.1464T>C (p.His488=)
c.1461T>C (p.His487=)
c.*585T>C (n.*585T>C)
c.*1120T>C (n.*1120T>C)
c.1673T>C (n.1673T>C)
c.1293T>C (p.His431=)
c.1341T>C (p.His447=)
c.1437T>C (p.His479=)
c.1383T>C (p.His461=)
c.1344T>C (p.His448=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738865T>GCA402175420ASXL3c.1464T>G (p.His488Gln)
c.1461T>G (p.His487Gln)
c.*585T>G (n.*585T>G)
c.*1120T>G (n.*1120T>G)
c.1673T>G (n.1673T>G)
c.1293T>G (p.His431Gln)
c.1341T>G (p.His447Gln)
c.1437T>G (p.His479Gln)
c.1383T>G (p.His461Gln)
c.1344T>G (p.His448Gln)
18g.33738865T=CA2294855716ASXL3c.1464T= (p.His488=)
c.1461T= (p.His487=)
c.*585T= (n.*585T=)
c.*1120T= (n.*1120T=)
c.1673T= (n.1673T=)
c.1293T= (p.His431=)
c.1341T= (p.His447=)
c.1437T= (p.His479=)
c.1383T= (p.His461=)
c.1344T= (p.His448=)
18g.33738866G>ACA402175425ASXL3c.1465G>A (p.Glu489Lys)
c.1462G>A (p.Glu488Lys)
c.*586G>A (n.*586G>A)
c.*1121G>A (n.*1121G>A)
c.1674G>A (n.1674G>A)
c.1294G>A (p.Glu432Lys)
c.1342G>A (p.Glu448Lys)
c.1438G>A (p.Glu480Lys)
c.1384G>A (p.Glu462Lys)
c.1345G>A (p.Glu449Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.33738866G>CCA402175428ASXL3c.1465G>C (p.Glu489Gln)
c.1462G>C (p.Glu488Gln)
c.*586G>C (n.*586G>C)
c.*1121G>C (n.*1121G>C)
c.1674G>C (n.1674G>C)
c.1294G>C (p.Glu432Gln)
c.1342G>C (p.Glu448Gln)
c.1438G>C (p.Glu480Gln)
c.1384G>C (p.Glu462Gln)
c.1345G>C (p.Glu449Gln)
18g.33738866G=CA2294855717ASXL3c.1465G= (p.Glu489=)
c.1462G= (p.Glu488=)
c.*586G= (n.*586G=)
c.*1121G= (n.*1121G=)
c.1674G= (n.1674G=)
c.1294G= (p.Glu432=)
c.1342G= (p.Glu448=)
c.1438G= (p.Glu480=)
c.1384G= (p.Glu462=)
c.1345G= (p.Glu449=)
18g.33738866G>TCA402175430ASXL3c.1465G>T (p.Glu489Ter)
c.1462G>T (p.Glu488Ter)
c.*586G>T (n.*586G>T)
c.*1121G>T (n.*1121G>T)
c.1674G>T (n.1674G>T)
c.1294G>T (p.Glu432Ter)
c.1342G>T (p.Glu448Ter)
c.1438G>T (p.Glu480Ter)
c.1384G>T (p.Glu462Ter)
c.1345G>T (p.Glu449Ter)
 gnomAD v4
18g.33738869_33738871delCA2641456704ASXL3c.1468_1470del (p.Glu490del)
c.1465_1467del (p.Glu489del)
c.*589_*591del (n.*589_*591del)
c.*1124_*1126del (n.*1124_*1126del)
c.1677_1679del (n.1677_1679del)
c.1297_1299del (p.Glu433del)
c.1345_1347del (p.Glu449del)
c.1441_1443del (p.Glu481del)
c.1387_1389del (p.Glu463del)
c.1348_1350del (p.Glu450del)
 gnomAD v4
18g.33738867A>CCA402175437ASXL3c.1466A>C (p.Glu489Ala)
c.1463A>C (p.Glu488Ala)
c.*587A>C (n.*587A>C)
c.*1122A>C (n.*1122A>C)
c.1675A>C (n.1675A>C)
c.1295A>C (p.Glu432Ala)
c.1343A>C (p.Glu448Ala)
c.1439A>C (p.Glu480Ala)
c.1385A>C (p.Glu462Ala)
c.1346A>C (p.Glu449Ala)
18g.33738867A>GCA402175434ASXL3c.1466A>G (p.Glu489Gly)
c.1463A>G (p.Glu488Gly)
c.*587A>G (n.*587A>G)
c.*1122A>G (n.*1122A>G)
c.1675A>G (n.1675A>G)
c.1295A>G (p.Glu432Gly)
c.1343A>G (p.Glu448Gly)
c.1439A>G (p.Glu480Gly)
c.1385A>G (p.Glu462Gly)
c.1346A>G (p.Glu449Gly)
18g.33738867A>TCA402175432ASXL3c.1466A>T (p.Glu489Val)
c.1463A>T (p.Glu488Val)
c.*587A>T (n.*587A>T)
c.*1122A>T (n.*1122A>T)
c.1675A>T (n.1675A>T)
c.1295A>T (p.Glu432Val)
c.1343A>T (p.Glu448Val)
c.1439A>T (p.Glu480Val)
c.1385A>T (p.Glu462Val)
c.1346A>T (p.Glu449Val)
18g.33738868A=CA2294855718ASXL3c.1467A= (p.Glu489=)
c.1464A= (p.Glu488=)
c.*588A= (n.*588A=)
c.*1123A= (n.*1123A=)
c.1676A= (n.1676A=)
c.1296A= (p.Glu432=)
c.1344A= (p.Glu448=)
c.1440A= (p.Glu480=)
c.1386A= (p.Glu462=)
c.1347A= (p.Glu449=)
18g.33738868A>CCA402175441ASXL3c.1467A>C (p.Glu489Asp)
c.1464A>C (p.Glu488Asp)
c.*588A>C (n.*588A>C)
c.*1123A>C (n.*1123A>C)
c.1676A>C (n.1676A>C)
c.1296A>C (p.Glu432Asp)
c.1344A>C (p.Glu448Asp)
c.1440A>C (p.Glu480Asp)
c.1386A>C (p.Glu462Asp)
c.1347A>C (p.Glu449Asp)
18g.33738868A>GCA297786707ASXL3c.1467A>G (p.Glu489=)
c.1464A>G (p.Glu488=)
c.*588A>G (n.*588A>G)
c.*1123A>G (n.*1123A>G)
c.1676A>G (n.1676A>G)
c.1296A>G (p.Glu432=)
c.1344A>G (p.Glu448=)
c.1440A>G (p.Glu480=)
c.1386A>G (p.Glu462=)
c.1347A>G (p.Glu449=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738868A>TCA402175445ASXL3c.1467A>T (p.Glu489Asp)
c.1464A>T (p.Glu488Asp)
c.*588A>T (n.*588A>T)
c.*1123A>T (n.*1123A>T)
c.1676A>T (n.1676A>T)
c.1296A>T (p.Glu432Asp)
c.1344A>T (p.Glu448Asp)
c.1440A>T (p.Glu480Asp)
c.1386A>T (p.Glu462Asp)
c.1347A>T (p.Glu449Asp)
18g.33738869G>ACA402175449ASXL3c.1468G>A (p.Glu490Lys)
c.1465G>A (p.Glu489Lys)
c.*589G>A (n.*589G>A)
c.*1124G>A (n.*1124G>A)
c.1677G>A (n.1677G>A)
c.1297G>A (p.Glu433Lys)
c.1345G>A (p.Glu449Lys)
c.1441G>A (p.Glu481Lys)
c.1387G>A (p.Glu463Lys)
c.1348G>A (p.Glu450Lys)
18g.33738869G>CCA402175451ASXL3c.1468G>C (p.Glu490Gln)
c.1465G>C (p.Glu489Gln)
c.*589G>C (n.*589G>C)
c.*1124G>C (n.*1124G>C)
c.1677G>C (n.1677G>C)
c.1297G>C (p.Glu433Gln)
c.1345G>C (p.Glu449Gln)
c.1441G>C (p.Glu481Gln)
c.1387G>C (p.Glu463Gln)
c.1348G>C (p.Glu450Gln)
18g.33738869G>TCA402175452ASXL3c.1468G>T (p.Glu490Ter)
c.1465G>T (p.Glu489Ter)
c.*589G>T (n.*589G>T)
c.*1124G>T (n.*1124G>T)
c.1677G>T (n.1677G>T)
c.1297G>T (p.Glu433Ter)
c.1345G>T (p.Glu449Ter)
c.1441G>T (p.Glu481Ter)
c.1387G>T (p.Glu463Ter)
c.1348G>T (p.Glu450Ter)
 ClinVar dbSNP
18g.33738870A>CCA402175455ASXL3c.1469A>C (p.Glu490Ala)
c.1466A>C (p.Glu489Ala)
c.*590A>C (n.*590A>C)
c.*1125A>C (n.*1125A>C)
c.1678A>C (n.1678A>C)
c.1298A>C (p.Glu433Ala)
c.1346A>C (p.Glu449Ala)
c.1442A>C (p.Glu481Ala)
c.1388A>C (p.Glu463Ala)
c.1349A>C (p.Glu450Ala)
18g.33738870A>GCA402175459ASXL3c.1469A>G (p.Glu490Gly)
c.1466A>G (p.Glu489Gly)
c.*590A>G (n.*590A>G)
c.*1125A>G (n.*1125A>G)
c.1678A>G (n.1678A>G)
c.1298A>G (p.Glu433Gly)
c.1346A>G (p.Glu449Gly)
c.1442A>G (p.Glu481Gly)
c.1388A>G (p.Glu463Gly)
c.1349A>G (p.Glu450Gly)
18g.33738870A>TCA402175457ASXL3c.1469A>T (p.Glu490Val)
c.1466A>T (p.Glu489Val)
c.*590A>T (n.*590A>T)
c.*1125A>T (n.*1125A>T)
c.1678A>T (n.1678A>T)
c.1298A>T (p.Glu433Val)
c.1346A>T (p.Glu449Val)
c.1442A>T (p.Glu481Val)
c.1388A>T (p.Glu463Val)
c.1349A>T (p.Glu450Val)
18g.33738871A>CCA402175462ASXL3c.1470A>C (p.Glu490Asp)
c.1467A>C (p.Glu489Asp)
c.*591A>C (n.*591A>C)
c.*1126A>C (n.*1126A>C)
c.1679A>C (n.1679A>C)
c.1299A>C (p.Glu433Asp)
c.1347A>C (p.Glu449Asp)
c.1443A>C (p.Glu481Asp)
c.1389A>C (p.Glu463Asp)
c.1350A>C (p.Glu450Asp)
18g.33738871A>GCA503768362ASXL3c.1470A>G (p.Glu490=)
c.1467A>G (p.Glu489=)
c.*591A>G (n.*591A>G)
c.*1126A>G (n.*1126A>G)
c.1679A>G (n.1679A>G)
c.1299A>G (p.Glu433=)
c.1347A>G (p.Glu449=)
c.1443A>G (p.Glu481=)
c.1389A>G (p.Glu463=)
c.1350A>G (p.Glu450=)
 dbSNP gnomAD v3 gnomAD v4
18g.33738871A>TCA402175463ASXL3c.1470A>T (p.Glu490Asp)
c.1467A>T (p.Glu489Asp)
c.*591A>T (n.*591A>T)
c.*1126A>T (n.*1126A>T)
c.1679A>T (n.1679A>T)
c.1299A>T (p.Glu433Asp)
c.1347A>T (p.Glu449Asp)
c.1443A>T (p.Glu481Asp)
c.1389A>T (p.Glu463Asp)
c.1350A>T (p.Glu450Asp)
18g.33738872C>ACA402175466ASXL3c.1471C>A (p.Pro491Thr)
c.1468C>A (p.Pro490Thr)
c.*592C>A (n.*592C>A)
c.*1127C>A (n.*1127C>A)
c.1680C>A (n.1680C>A)
c.1300C>A (p.Pro434Thr)
c.1348C>A (p.Pro450Thr)
c.1444C>A (p.Pro482Thr)
c.1390C>A (p.Pro464Thr)
c.1351C>A (p.Pro451Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738872C=CA2294855719ASXL3c.1471C= (p.Pro491=)
c.1468C= (p.Pro490=)
c.*592C= (n.*592C=)
c.*1127C= (n.*1127C=)
c.1680C= (n.1680C=)
c.1300C= (p.Pro434=)
c.1348C= (p.Pro450=)
c.1444C= (p.Pro482=)
c.1390C= (p.Pro464=)
c.1351C= (p.Pro451=)
18g.33738872C>GCA402175468ASXL3c.1471C>G (p.Pro491Ala)
c.1468C>G (p.Pro490Ala)
c.*592C>G (n.*592C>G)
c.*1127C>G (n.*1127C>G)
c.1680C>G (n.1680C>G)
c.1300C>G (p.Pro434Ala)
c.1348C>G (p.Pro450Ala)
c.1444C>G (p.Pro482Ala)
c.1390C>G (p.Pro464Ala)
c.1351C>G (p.Pro451Ala)
18g.33738872C>TCA402175471ASXL3c.1471C>T (p.Pro491Ser)
c.1468C>T (p.Pro490Ser)
c.*592C>T (n.*592C>T)
c.*1127C>T (n.*1127C>T)
c.1680C>T (n.1680C>T)
c.1300C>T (p.Pro434Ser)
c.1348C>T (p.Pro450Ser)
c.1444C>T (p.Pro482Ser)
c.1390C>T (p.Pro464Ser)
c.1351C>T (p.Pro451Ser)
18g.33738873C>ACA402175473ASXL3c.1472C>A (p.Pro491His)
c.1469C>A (p.Pro490His)
c.*593C>A (n.*593C>A)
c.*1128C>A (n.*1128C>A)
c.1681C>A (n.1681C>A)
c.1301C>A (p.Pro434His)
c.1349C>A (p.Pro450His)
c.1445C>A (p.Pro482His)
c.1391C>A (p.Pro464His)
c.1352C>A (p.Pro451His)
18g.33738873C>GCA402175476ASXL3c.1472C>G (p.Pro491Arg)
c.1469C>G (p.Pro490Arg)
c.*593C>G (n.*593C>G)
c.*1128C>G (n.*1128C>G)
c.1681C>G (n.1681C>G)
c.1301C>G (p.Pro434Arg)
c.1349C>G (p.Pro450Arg)
c.1445C>G (p.Pro482Arg)
c.1391C>G (p.Pro464Arg)
c.1352C>G (p.Pro451Arg)
18g.33738873C>TCA402175478ASXL3c.1472C>T (p.Pro491Leu)
c.1469C>T (p.Pro490Leu)
c.*593C>T (n.*593C>T)
c.*1128C>T (n.*1128C>T)
c.1681C>T (n.1681C>T)
c.1301C>T (p.Pro434Leu)
c.1349C>T (p.Pro450Leu)
c.1445C>T (p.Pro482Leu)
c.1391C>T (p.Pro464Leu)
c.1352C>T (p.Pro451Leu)
18g.33738874C>ACA503768365ASXL3c.1473C>A (p.Pro491=)
c.1470C>A (p.Pro490=)
c.*594C>A (n.*594C>A)
c.*1129C>A (n.*1129C>A)
c.1682C>A (n.1682C>A)
c.1302C>A (p.Pro434=)
c.1350C>A (p.Pro450=)
c.1446C>A (p.Pro482=)
c.1392C>A (p.Pro464=)
c.1353C>A (p.Pro451=)
 gnomAD v4
18g.33738874C>GCA503768366ASXL3c.1473C>G (p.Pro491=)
c.1470C>G (p.Pro490=)
c.*594C>G (n.*594C>G)
c.*1129C>G (n.*1129C>G)
c.1682C>G (n.1682C>G)
c.1302C>G (p.Pro434=)
c.1350C>G (p.Pro450=)
c.1446C>G (p.Pro482=)
c.1392C>G (p.Pro464=)
c.1353C>G (p.Pro451=)
18g.33738874C>TCA503768367ASXL3c.1473C>T (p.Pro491=)
c.1470C>T (p.Pro490=)
c.*594C>T (n.*594C>T)
c.*1129C>T (n.*1129C>T)
c.1682C>T (n.1682C>T)
c.1302C>T (p.Pro434=)
c.1350C>T (p.Pro450=)
c.1446C>T (p.Pro482=)
c.1392C>T (p.Pro464=)
c.1353C>T (p.Pro451=)
18g.33738875C>ACA402175481ASXL3c.1474C>A (p.Gln492Lys)
c.1471C>A (p.Gln491Lys)
c.*595C>A (n.*595C>A)
c.*1130C>A (n.*1130C>A)
c.1683C>A (n.1683C>A)
c.1303C>A (p.Gln435Lys)
c.1351C>A (p.Gln451Lys)
c.1447C>A (p.Gln483Lys)
c.1393C>A (p.Gln465Lys)
c.1354C>A (p.Gln452Lys)
18g.33738875C=CA2294855720ASXL3c.1474C= (p.Gln492=)
c.1471C= (p.Gln491=)
c.*595C= (n.*595C=)
c.*1130C= (n.*1130C=)
c.1683C= (n.1683C=)
c.1303C= (p.Gln435=)
c.1351C= (p.Gln451=)
c.1447C= (p.Gln483=)
c.1393C= (p.Gln465=)
c.1354C= (p.Gln452=)
18g.33738875C>GCA402175483ASXL3c.1474C>G (p.Gln492Glu)
c.1471C>G (p.Gln491Glu)
c.*595C>G (n.*595C>G)
c.*1130C>G (n.*1130C>G)
c.1683C>G (n.1683C>G)
c.1303C>G (p.Gln435Glu)
c.1351C>G (p.Gln451Glu)
c.1447C>G (p.Gln483Glu)
c.1393C>G (p.Gln465Glu)
c.1354C>G (p.Gln452Glu)
18g.33738875C>TCA16616935ASXL3c.1474C>T (p.Gln492Ter)
c.1471C>T (p.Gln491Ter)
c.*595C>T (n.*595C>T)
c.*1130C>T (n.*1130C>T)
c.1683C>T (n.1683C>T)
c.1303C>T (p.Gln435Ter)
c.1351C>T (p.Gln451Ter)
c.1447C>T (p.Gln483Ter)
c.1393C>T (p.Gln465Ter)
c.1354C>T (p.Gln452Ter)
 ClinVar dbSNP
18g.33738876A>CCA402175489ASXL3c.1475A>C (p.Gln492Pro)
c.1472A>C (p.Gln491Pro)
c.*596A>C (n.*596A>C)
c.*1131A>C (n.*1131A>C)
c.1684A>C (n.1684A>C)
c.1304A>C (p.Gln435Pro)
c.1352A>C (p.Gln451Pro)
c.1448A>C (p.Gln483Pro)
c.1394A>C (p.Gln465Pro)
c.1355A>C (p.Gln452Pro)
18g.33738876A>GCA402175487ASXL3c.1475A>G (p.Gln492Arg)
c.1472A>G (p.Gln491Arg)
c.*596A>G (n.*596A>G)
c.*1131A>G (n.*1131A>G)
c.1684A>G (n.1684A>G)
c.1304A>G (p.Gln435Arg)
c.1352A>G (p.Gln451Arg)
c.1448A>G (p.Gln483Arg)
c.1394A>G (p.Gln465Arg)
c.1355A>G (p.Gln452Arg)
18g.33738876A>TCA402175485ASXL3c.1475A>T (p.Gln492Leu)
c.1472A>T (p.Gln491Leu)
c.*596A>T (n.*596A>T)
c.*1131A>T (n.*1131A>T)
c.1684A>T (n.1684A>T)
c.1304A>T (p.Gln435Leu)
c.1352A>T (p.Gln451Leu)
c.1448A>T (p.Gln483Leu)
c.1394A>T (p.Gln465Leu)
c.1355A>T (p.Gln452Leu)
18g.33738878delCA645601886ASXL3c.1477del (p.Ile493Ter)
c.1474del (p.Ile492Ter)
c.*598del (n.*598del)
c.*1133del (n.*1133del)
c.1686del (n.1686del)
c.1306del (p.Ile436Ter)
c.1354del (p.Ile452Ter)
c.1450del (p.Ile484Ter)
c.1396del (p.Ile466Ter)
c.1357del (p.Ile453Ter)
 COSMIC COSMIC
18g.33738877A=CA2294855721ASXL3c.1476A= (p.Gln492=)
c.1473A= (p.Gln491=)
c.*597A= (n.*597A=)
c.*1132A= (n.*1132A=)
c.1685A= (n.1685A=)
c.1305A= (p.Gln435=)
c.1353A= (p.Gln451=)
c.1449A= (p.Gln483=)
c.1395A= (p.Gln465=)
c.1356A= (p.Gln452=)
18g.33738877A>CCA402175496ASXL3c.1476A>C (p.Gln492His)
c.1473A>C (p.Gln491His)
c.*597A>C (n.*597A>C)
c.*1132A>C (n.*1132A>C)
c.1685A>C (n.1685A>C)
c.1305A>C (p.Gln435His)
c.1353A>C (p.Gln451His)
c.1449A>C (p.Gln483His)
c.1395A>C (p.Gln465His)
c.1356A>C (p.Gln452His)
18g.33738877A>GCA8933758ASXL3c.1476A>G (p.Gln492=)
c.1473A>G (p.Gln491=)
c.*597A>G (n.*597A>G)
c.*1132A>G (n.*1132A>G)
c.1685A>G (n.1685A>G)
c.1305A>G (p.Gln435=)
c.1353A>G (p.Gln451=)
c.1449A>G (p.Gln483=)
c.1395A>G (p.Gln465=)
c.1356A>G (p.Gln452=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738877A>TCA402175494ASXL3c.1476A>T (p.Gln492His)
c.1473A>T (p.Gln491His)
c.*597A>T (n.*597A>T)
c.*1132A>T (n.*1132A>T)
c.1685A>T (n.1685A>T)
c.1305A>T (p.Gln435His)
c.1353A>T (p.Gln451His)
c.1449A>T (p.Gln483His)
c.1395A>T (p.Gln465His)
c.1356A>T (p.Gln452His)
18g.33738878A=CA2294855722ASXL3c.1477A= (p.Ile493=)
c.1474A= (p.Ile492=)
c.*598A= (n.*598A=)
c.*1133A= (n.*1133A=)
c.1686A= (n.1686A=)
c.1306A= (p.Ile436=)
c.1354A= (p.Ile452=)
c.1450A= (p.Ile484=)
c.1396A= (p.Ile466=)
c.1357A= (p.Ile453=)
18g.33738878A>CCA297786710ASXL3c.1477A>C (p.Ile493Leu)
c.1474A>C (p.Ile492Leu)
c.*598A>C (n.*598A>C)
c.*1133A>C (n.*1133A>C)
c.1686A>C (n.1686A>C)
c.1306A>C (p.Ile436Leu)
c.1354A>C (p.Ile452Leu)
c.1450A>C (p.Ile484Leu)
c.1396A>C (p.Ile466Leu)
c.1357A>C (p.Ile453Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738878A>GCA402175500ASXL3c.1477A>G (p.Ile493Val)
c.1474A>G (p.Ile492Val)
c.*598A>G (n.*598A>G)
c.*1133A>G (n.*1133A>G)
c.1686A>G (n.1686A>G)
c.1306A>G (p.Ile436Val)
c.1354A>G (p.Ile452Val)
c.1450A>G (p.Ile484Val)
c.1396A>G (p.Ile466Val)
c.1357A>G (p.Ile453Val)
18g.33738878A>TCA402175502ASXL3c.1477A>T (p.Ile493Leu)
c.1474A>T (p.Ile492Leu)
c.*598A>T (n.*598A>T)
c.*1133A>T (n.*1133A>T)
c.1686A>T (n.1686A>T)
c.1306A>T (p.Ile436Leu)
c.1354A>T (p.Ile452Leu)
c.1450A>T (p.Ile484Leu)
c.1396A>T (p.Ile466Leu)
c.1357A>T (p.Ile453Leu)
18g.33738879T>ACA402175505ASXL3c.1478T>A (p.Ile493Lys)
c.1475T>A (p.Ile492Lys)
c.*599T>A (n.*599T>A)
c.*1134T>A (n.*1134T>A)
c.1687T>A (n.1687T>A)
c.1307T>A (p.Ile436Lys)
c.1355T>A (p.Ile452Lys)
c.1451T>A (p.Ile484Lys)
c.1397T>A (p.Ile466Lys)
c.1358T>A (p.Ile453Lys)
18g.33738879T>CCA402175507ASXL3c.1478T>C (p.Ile493Thr)
c.1475T>C (p.Ile492Thr)
c.*599T>C (n.*599T>C)
c.*1134T>C (n.*1134T>C)
c.1687T>C (n.1687T>C)
c.1307T>C (p.Ile436Thr)
c.1355T>C (p.Ile452Thr)
c.1451T>C (p.Ile484Thr)
c.1397T>C (p.Ile466Thr)
c.1358T>C (p.Ile453Thr)
18g.33738879T>GCA402175510ASXL3c.1478T>G (p.Ile493Arg)
c.1475T>G (p.Ile492Arg)
c.*599T>G (n.*599T>G)
c.*1134T>G (n.*1134T>G)
c.1687T>G (n.1687T>G)
c.1307T>G (p.Ile436Arg)
c.1355T>G (p.Ile452Arg)
c.1451T>G (p.Ile484Arg)
c.1397T>G (p.Ile466Arg)
c.1358T>G (p.Ile453Arg)
18g.33738880A>CCA503768373ASXL3c.1479A>C (p.Ile493=)
c.1476A>C (p.Ile492=)
c.*600A>C (n.*600A>C)
c.*1135A>C (n.*1135A>C)
c.1688A>C (n.1688A>C)
c.1308A>C (p.Ile436=)
c.1356A>C (p.Ile452=)
c.1452A>C (p.Ile484=)
c.1398A>C (p.Ile466=)
c.1359A>C (p.Ile453=)
18g.33738880A>GCA402175512ASXL3c.1479A>G (p.Ile493Met)
c.1476A>G (p.Ile492Met)
c.*600A>G (n.*600A>G)
c.*1135A>G (n.*1135A>G)
c.1688A>G (n.1688A>G)
c.1308A>G (p.Ile436Met)
c.1356A>G (p.Ile452Met)
c.1452A>G (p.Ile484Met)
c.1398A>G (p.Ile466Met)
c.1359A>G (p.Ile453Met)
18g.33738880A>TCA503768374ASXL3c.1479A>T (p.Ile493=)
c.1476A>T (p.Ile492=)
c.*600A>T (n.*600A>T)
c.*1135A>T (n.*1135A>T)
c.1688A>T (n.1688A>T)
c.1308A>T (p.Ile436=)
c.1356A>T (p.Ile452=)
c.1452A>T (p.Ile484=)
c.1398A>T (p.Ile466=)
c.1359A>T (p.Ile453=)
18g.33738881G>ACA402175516ASXL3c.1480G>A (p.Ala494Thr)
c.1477G>A (p.Ala493Thr)
c.*601G>A (n.*601G>A)
c.*1136G>A (n.*1136G>A)
c.1689G>A (n.1689G>A)
c.1309G>A (p.Ala437Thr)
c.1357G>A (p.Ala453Thr)
c.1453G>A (p.Ala485Thr)
c.1399G>A (p.Ala467Thr)
c.1360G>A (p.Ala454Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738881G>CCA402175518ASXL3c.1480G>C (p.Ala494Pro)
c.1477G>C (p.Ala493Pro)
c.*601G>C (n.*601G>C)
c.*1136G>C (n.*1136G>C)
c.1689G>C (n.1689G>C)
c.1309G>C (p.Ala437Pro)
c.1357G>C (p.Ala453Pro)
c.1453G>C (p.Ala485Pro)
c.1399G>C (p.Ala467Pro)
c.1360G>C (p.Ala454Pro)
18g.33738881G=CA2294855723ASXL3c.1480G= (p.Ala494=)
c.1477G= (p.Ala493=)
c.*601G= (n.*601G=)
c.*1136G= (n.*1136G=)
c.1689G= (n.1689G=)
c.1309G= (p.Ala437=)
c.1357G= (p.Ala453=)
c.1453G= (p.Ala485=)
c.1399G= (p.Ala467=)
c.1360G= (p.Ala454=)
18g.33738881G>TCA402175520ASXL3c.1480G>T (p.Ala494Ser)
c.1477G>T (p.Ala493Ser)
c.*601G>T (n.*601G>T)
c.*1136G>T (n.*1136G>T)
c.1689G>T (n.1689G>T)
c.1309G>T (p.Ala437Ser)
c.1357G>T (p.Ala453Ser)
c.1453G>T (p.Ala485Ser)
c.1399G>T (p.Ala467Ser)
c.1360G>T (p.Ala454Ser)
18g.33738881_33738883delinsGCACA2294855724ASXL3c.1480_1482delinsGCA (p.Ala494=)
c.1477_1479delinsGCA (p.Ala493=)
c.*601_*603delinsGCA (n.*601_*603delinsGCA)
c.*1136_*1138delinsGCA (n.*1136_*1138delinsGCA)
c.1689_1691delinsGCA (n.1689_1691delinsGCA)
c.1309_1311delinsGCA (p.Ala437=)
c.1357_1359delinsGCA (p.Ala453=)
c.1453_1455delinsGCA (p.Ala485=)
c.1399_1401delinsGCA (p.Ala467=)
c.1360_1362delinsGCA (p.Ala454=)
18g.33738882C>ACA402175526ASXL3c.1481C>A (p.Ala494Glu)
c.1478C>A (p.Ala493Glu)
c.*602C>A (n.*602C>A)
c.*1137C>A (n.*1137C>A)
c.1690C>A (n.1690C>A)
c.1310C>A (p.Ala437Glu)
c.1358C>A (p.Ala453Glu)
c.1454C>A (p.Ala485Glu)
c.1400C>A (p.Ala467Glu)
c.1361C>A (p.Ala454Glu)
18g.33738882C=CA2294855725ASXL3c.1481C= (p.Ala494=)
c.1478C= (p.Ala493=)
c.*602C= (n.*602C=)
c.*1137C= (n.*1137C=)
c.1690C= (n.1690C=)
c.1310C= (p.Ala437=)
c.1358C= (p.Ala453=)
c.1454C= (p.Ala485=)
c.1400C= (p.Ala467=)
c.1361C= (p.Ala454=)
18g.33738882C>GCA402175529ASXL3c.1481C>G (p.Ala494Gly)
c.1478C>G (p.Ala493Gly)
c.*602C>G (n.*602C>G)
c.*1137C>G (n.*1137C>G)
c.1690C>G (n.1690C>G)
c.1310C>G (p.Ala437Gly)
c.1358C>G (p.Ala453Gly)
c.1454C>G (p.Ala485Gly)
c.1400C>G (p.Ala467Gly)
c.1361C>G (p.Ala454Gly)
 dbSNP gnomAD v2
18g.33738882C>TCA402175522ASXL3c.1481C>T (p.Ala494Val)
c.1478C>T (p.Ala493Val)
c.*602C>T (n.*602C>T)
c.*1137C>T (n.*1137C>T)
c.1690C>T (n.1690C>T)
c.1310C>T (p.Ala437Val)
c.1358C>T (p.Ala453Val)
c.1454C>T (p.Ala485Val)
c.1400C>T (p.Ala467Val)
c.1361C>T (p.Ala454Val)
18g.33738883_33738884delCA1139666017ASXL3c.1482_1483del (p.Pro495SerfsTer2)
c.1479_1480del (p.Pro494SerfsTer2)
c.*603_*604del (n.*603_*604del)
c.*1138_*1139del (n.*1138_*1139del)
c.1691_1692del (n.1691_1692del)
c.1311_1312del (p.Pro438SerfsTer2)
c.1359_1360del (p.Pro454SerfsTer2)
c.1455_1456del (p.Pro486SerfsTer2)
c.1401_1402del (p.Pro468SerfsTer2)
c.1362_1363del (p.Pro455SerfsTer2)
 ClinVar dbSNP
18g.33738883A=CA2294855726ASXL3c.1482A= (p.Ala494=)
c.1479A= (p.Ala493=)
c.*603A= (n.*603A=)
c.*1138A= (n.*1138A=)
c.1691A= (n.1691A=)
c.1311A= (p.Ala437=)
c.1359A= (p.Ala453=)
c.1455A= (p.Ala485=)
c.1401A= (p.Ala467=)
c.1362A= (p.Ala454=)
18g.33738883A>CCA503768378ASXL3c.1482A>C (p.Ala494=)
c.1479A>C (p.Ala493=)
c.*603A>C (n.*603A>C)
c.*1138A>C (n.*1138A>C)
c.1691A>C (n.1691A>C)
c.1311A>C (p.Ala437=)
c.1359A>C (p.Ala453=)
c.1455A>C (p.Ala485=)
c.1401A>C (p.Ala467=)
c.1362A>C (p.Ala454=)
18g.33738883A>GCA503768379ASXL3c.1482A>G (p.Ala494=)
c.1479A>G (p.Ala493=)
c.*603A>G (n.*603A>G)
c.*1138A>G (n.*1138A>G)
c.1691A>G (n.1691A>G)
c.1311A>G (p.Ala437=)
c.1359A>G (p.Ala453=)
c.1455A>G (p.Ala485=)
c.1401A>G (p.Ala467=)
c.1362A>G (p.Ala454=)
 dbSNP
18g.33738883A>TCA503768380ASXL3c.1482A>T (p.Ala494=)
c.1479A>T (p.Ala493=)
c.*603A>T (n.*603A>T)
c.*1138A>T (n.*1138A>T)
c.1691A>T (n.1691A>T)
c.1311A>T (p.Ala437=)
c.1359A>T (p.Ala453=)
c.1455A>T (p.Ala485=)
c.1401A>T (p.Ala467=)
c.1362A>T (p.Ala454=)
18g.33738883_33738884insTGCTCA1139666018ASXL3c.1482_1483insTGCT (p.Pro495CysfsTer4)
c.1479_1480insTGCT (p.Pro494CysfsTer4)
c.*603_*604insTGCT (n.*603_*604insTGCT)
c.*1138_*1139insTGCT (n.*1138_*1139insTGCT)
c.1691_1692insTGCT (n.1691_1692insTGCT)
c.1311_1312insTGCT (p.Pro438CysfsTer4)
c.1359_1360insTGCT (p.Pro454CysfsTer4)
c.1455_1456insTGCT (p.Pro486CysfsTer4)
c.1401_1402insTGCT (p.Pro468CysfsTer4)
c.1362_1363insTGCT (p.Pro455CysfsTer4)
 ClinVar dbSNP
18g.33738884C>ACA402175532ASXL3c.1483C>A (p.Pro495Thr)
c.1480C>A (p.Pro494Thr)
c.*604C>A (n.*604C>A)
c.*1139C>A (n.*1139C>A)
c.1692C>A (n.1692C>A)
c.1312C>A (p.Pro438Thr)
c.1360C>A (p.Pro454Thr)
c.1456C>A (p.Pro486Thr)
c.1402C>A (p.Pro468Thr)
c.1363C>A (p.Pro455Thr)
18g.33738884C>GCA402175535ASXL3c.1483C>G (p.Pro495Ala)
c.1480C>G (p.Pro494Ala)
c.*604C>G (n.*604C>G)
c.*1139C>G (n.*1139C>G)
c.1692C>G (n.1692C>G)
c.1312C>G (p.Pro438Ala)
c.1360C>G (p.Pro454Ala)
c.1456C>G (p.Pro486Ala)
c.1402C>G (p.Pro468Ala)
c.1363C>G (p.Pro455Ala)
18g.33738884C>TCA402175537ASXL3c.1483C>T (p.Pro495Ser)
c.1480C>T (p.Pro494Ser)
c.*604C>T (n.*604C>T)
c.*1139C>T (n.*1139C>T)
c.1692C>T (n.1692C>T)
c.1312C>T (p.Pro438Ser)
c.1360C>T (p.Pro454Ser)
c.1456C>T (p.Pro486Ser)
c.1402C>T (p.Pro468Ser)
c.1363C>T (p.Pro455Ser)
 gnomAD v4
18g.33738885C>ACA402175541ASXL3c.1484C>A (p.Pro495His)
c.1481C>A (p.Pro494His)
c.*605C>A (n.*605C>A)
c.*1140C>A (n.*1140C>A)
c.1693C>A (n.1693C>A)
c.1313C>A (p.Pro438His)
c.1361C>A (p.Pro454His)
c.1457C>A (p.Pro486His)
c.1403C>A (p.Pro468His)
c.1364C>A (p.Pro455His)
18g.33738885C>GCA402175543ASXL3c.1484C>G (p.Pro495Arg)
c.1481C>G (p.Pro494Arg)
c.*605C>G (n.*605C>G)
c.*1140C>G (n.*1140C>G)
c.1693C>G (n.1693C>G)
c.1313C>G (p.Pro438Arg)
c.1361C>G (p.Pro454Arg)
c.1457C>G (p.Pro486Arg)
c.1403C>G (p.Pro468Arg)
c.1364C>G (p.Pro455Arg)
 gnomAD v4
18g.33738885C>TCA402175545ASXL3c.1484C>T (p.Pro495Leu)
c.1481C>T (p.Pro494Leu)
c.*605C>T (n.*605C>T)
c.*1140C>T (n.*1140C>T)
c.1693C>T (n.1693C>T)
c.1313C>T (p.Pro438Leu)
c.1361C>T (p.Pro454Leu)
c.1457C>T (p.Pro486Leu)
c.1403C>T (p.Pro468Leu)
c.1364C>T (p.Pro455Leu)
18g.33738886T>ACA503768384ASXL3c.1485T>A (p.Pro495=)
c.1482T>A (p.Pro494=)
c.*606T>A (n.*606T>A)
c.*1141T>A (n.*1141T>A)
c.1694T>A (n.1694T>A)
c.1314T>A (p.Pro438=)
c.1362T>A (p.Pro454=)
c.1458T>A (p.Pro486=)
c.1404T>A (p.Pro468=)
c.1365T>A (p.Pro455=)
18g.33738886T>CCA8933759ASXL3c.1485T>C (p.Pro495=)
c.1482T>C (p.Pro494=)
c.*606T>C (n.*606T>C)
c.*1141T>C (n.*1141T>C)
c.1694T>C (n.1694T>C)
c.1314T>C (p.Pro438=)
c.1362T>C (p.Pro454=)
c.1458T>C (p.Pro486=)
c.1404T>C (p.Pro468=)
c.1365T>C (p.Pro455=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738886T>GCA503768385ASXL3c.1485T>G (p.Pro495=)
c.1482T>G (p.Pro494=)
c.*606T>G (n.*606T>G)
c.*1141T>G (n.*1141T>G)
c.1694T>G (n.1694T>G)
c.1314T>G (p.Pro438=)
c.1362T>G (p.Pro454=)
c.1458T>G (p.Pro486=)
c.1404T>G (p.Pro468=)
c.1365T>G (p.Pro455=)
18g.33738886T=CA2294855727ASXL3c.1485T= (p.Pro495=)
c.1482T= (p.Pro494=)
c.*606T= (n.*606T=)
c.*1141T= (n.*1141T=)
c.1694T= (n.1694T=)
c.1314T= (p.Pro438=)
c.1362T= (p.Pro454=)
c.1458T= (p.Pro486=)
c.1404T= (p.Pro468=)
c.1365T= (p.Pro455=)
18g.33738886_33738887delinsTCCA2294855728ASXL3c.1485_1486delinsTC (p.Pro495=)
c.1482_1483delinsTC (p.Pro494=)
c.*606_*607delinsTC (n.*606_*607delinsTC)
c.*1141_*1142delinsTC (n.*1141_*1142delinsTC)
c.1694_1695delinsTC (n.1694_1695delinsTC)
c.1314_1315delinsTC (p.Pro438=)
c.1362_1363delinsTC (p.Pro454=)
c.1458_1459delinsTC (p.Pro486=)
c.1404_1405delinsTC (p.Pro468=)
c.1365_1366delinsTC (p.Pro455=)
18g.33738887C>ACA402175552ASXL3c.1486C>A (p.Pro496Thr)
c.1483C>A (p.Pro495Thr)
c.*607C>A (n.*607C>A)
c.*1142C>A (n.*1142C>A)
c.1695C>A (n.1695C>A)
c.1315C>A (p.Pro439Thr)
c.1363C>A (p.Pro455Thr)
c.1459C>A (p.Pro487Thr)
c.1405C>A (p.Pro469Thr)
c.1366C>A (p.Pro456Thr)
18g.33738887C>GCA402175555ASXL3c.1486C>G (p.Pro496Ala)
c.1483C>G (p.Pro495Ala)
c.*607C>G (n.*607C>G)
c.*1142C>G (n.*1142C>G)
c.1695C>G (n.1695C>G)
c.1315C>G (p.Pro439Ala)
c.1363C>G (p.Pro455Ala)
c.1459C>G (p.Pro487Ala)
c.1405C>G (p.Pro469Ala)
c.1366C>G (p.Pro456Ala)
18g.33738887C>TCA402175558ASXL3c.1486C>T (p.Pro496Ser)
c.1483C>T (p.Pro495Ser)
c.*607C>T (n.*607C>T)
c.*1142C>T (n.*1142C>T)
c.1695C>T (n.1695C>T)
c.1315C>T (p.Pro439Ser)
c.1363C>T (p.Pro455Ser)
c.1459C>T (p.Pro487Ser)
c.1405C>T (p.Pro469Ser)
c.1366C>T (p.Pro456Ser)
18g.33738888delCA10605577ASXL3c.1487del (p.Pro496LeufsTer10)
c.1484del (p.Pro495LeufsTer10)
c.*608del (n.*608del)
c.*1143del (n.*1143del)
c.1696del (n.1696del)
c.1316del (p.Pro439LeufsTer10)
c.1364del (p.Pro455LeufsTer10)
c.1460del (p.Pro487LeufsTer10)
c.1406del (p.Pro469LeufsTer10)
c.1367del (p.Pro456LeufsTer10)
 ClinVar dbSNP
18g.33738888C>ACA402175560ASXL3c.1487C>A (p.Pro496His)
c.1484C>A (p.Pro495His)
c.*608C>A (n.*608C>A)
c.*1143C>A (n.*1143C>A)
c.1696C>A (n.1696C>A)
c.1316C>A (p.Pro439His)
c.1364C>A (p.Pro455His)
c.1460C>A (p.Pro487His)
c.1406C>A (p.Pro469His)
c.1367C>A (p.Pro456His)
18g.33738888C=CA2294855729ASXL3c.1487C= (p.Pro496=)
c.1484C= (p.Pro495=)
c.*608C= (n.*608C=)
c.*1143C= (n.*1143C=)
c.1696C= (n.1696C=)
c.1316C= (p.Pro439=)
c.1364C= (p.Pro455=)
c.1460C= (p.Pro487=)
c.1406C= (p.Pro469=)
c.1367C= (p.Pro456=)
18g.33738888C>GCA402175562ASXL3c.1487C>G (p.Pro496Arg)
c.1484C>G (p.Pro495Arg)
c.*608C>G (n.*608C>G)
c.*1143C>G (n.*1143C>G)
c.1696C>G (n.1696C>G)
c.1316C>G (p.Pro439Arg)
c.1364C>G (p.Pro455Arg)
c.1460C>G (p.Pro487Arg)
c.1406C>G (p.Pro469Arg)
c.1367C>G (p.Pro456Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.33738888C>TCA8933760ASXL3c.1487C>T (p.Pro496Leu)
c.1484C>T (p.Pro495Leu)
c.*608C>T (n.*608C>T)
c.*1143C>T (n.*1143C>T)
c.1696C>T (n.1696C>T)
c.1316C>T (p.Pro439Leu)
c.1364C>T (p.Pro455Leu)
c.1460C>T (p.Pro487Leu)
c.1406C>T (p.Pro469Leu)
c.1367C>T (p.Pro456Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738889T>ACA503768391ASXL3c.1488T>A (p.Pro496=)
c.1485T>A (p.Pro495=)
c.*609T>A (n.*609T>A)
c.*1144T>A (n.*1144T>A)
c.1697T>A (n.1697T>A)
c.1317T>A (p.Pro439=)
c.1365T>A (p.Pro455=)
c.1461T>A (p.Pro487=)
c.1407T>A (p.Pro469=)
c.1368T>A (p.Pro456=)
18g.33738889T>CCA503768389ASXL3c.1488T>C (p.Pro496=)
c.1485T>C (p.Pro495=)
c.*609T>C (n.*609T>C)
c.*1144T>C (n.*1144T>C)
c.1697T>C (n.1697T>C)
c.1317T>C (p.Pro439=)
c.1365T>C (p.Pro455=)
c.1461T>C (p.Pro487=)
c.1407T>C (p.Pro469=)
c.1368T>C (p.Pro456=)
 gnomAD v4
18g.33738889T>GCA503768390ASXL3c.1488T>G (p.Pro496=)
c.1485T>G (p.Pro495=)
c.*609T>G (n.*609T>G)
c.*1144T>G (n.*1144T>G)
c.1697T>G (n.1697T>G)
c.1317T>G (p.Pro439=)
c.1365T>G (p.Pro455=)
c.1461T>G (p.Pro487=)
c.1407T>G (p.Pro469=)
c.1368T>G (p.Pro456=)
18g.33738889_33738892dupCA658791347ASXL3c.1488_1491dup (p.Asp498Ter)
c.1485_1488dup (p.Asp497Ter)
c.*609_*612dup (n.*609_*612dup)
c.*1144_*1147dup (n.*1144_*1147dup)
c.1697_1700dup (n.1697_1700dup)
c.1317_1320dup (p.Asp441Ter)
c.1365_1368dup (p.Asp457Ter)
c.1461_1464dup (p.Asp489Ter)
c.1407_1410dup (p.Asp471Ter)
c.1368_1371dup (p.Asp458Ter)
18g.33738890G>ACA402175568ASXL3c.1489G>A (p.Glu497Lys)
c.1486G>A (p.Glu496Lys)
c.*610G>A (n.*610G>A)
c.*1145G>A (n.*1145G>A)
c.1698G>A (n.1698G>A)
c.1318G>A (p.Glu440Lys)
c.1366G>A (p.Glu456Lys)
c.1462G>A (p.Glu488Lys)
c.1408G>A (p.Glu470Lys)
c.1369G>A (p.Glu457Lys)
 COSMIC COSMIC
18g.33738890G>CCA402175570ASXL3c.1489G>C (p.Glu497Gln)
c.1486G>C (p.Glu496Gln)
c.*610G>C (n.*610G>C)
c.*1145G>C (n.*1145G>C)
c.1698G>C (n.1698G>C)
c.1318G>C (p.Glu440Gln)
c.1366G>C (p.Glu456Gln)
c.1462G>C (p.Glu488Gln)
c.1408G>C (p.Glu470Gln)
c.1369G>C (p.Glu457Gln)
18g.33738890G>TCA402175566ASXL3c.1489G>T (p.Glu497Ter)
c.1486G>T (p.Glu496Ter)
c.*610G>T (n.*610G>T)
c.*1145G>T (n.*1145G>T)
c.1698G>T (n.1698G>T)
c.1318G>T (p.Glu440Ter)
c.1366G>T (p.Glu456Ter)
c.1462G>T (p.Glu488Ter)
c.1408G>T (p.Glu470Ter)
c.1369G>T (p.Glu457Ter)
18g.33738891A>CCA402175572ASXL3c.1490A>C (p.Glu497Ala)
c.1487A>C (p.Glu496Ala)
c.*611A>C (n.*611A>C)
c.*1146A>C (n.*1146A>C)
c.1699A>C (n.1699A>C)
c.1319A>C (p.Glu440Ala)
c.1367A>C (p.Glu456Ala)
c.1463A>C (p.Glu488Ala)
c.1409A>C (p.Glu470Ala)
c.1370A>C (p.Glu457Ala)
18g.33738891A>GCA402175576ASXL3c.1490A>G (p.Glu497Gly)
c.1487A>G (p.Glu496Gly)
c.*611A>G (n.*611A>G)
c.*1146A>G (n.*1146A>G)
c.1699A>G (n.1699A>G)
c.1319A>G (p.Glu440Gly)
c.1367A>G (p.Glu456Gly)
c.1463A>G (p.Glu488Gly)
c.1409A>G (p.Glu470Gly)
c.1370A>G (p.Glu457Gly)
18g.33738891A>TCA402175574ASXL3c.1490A>T (p.Glu497Val)
c.1487A>T (p.Glu496Val)
c.*611A>T (n.*611A>T)
c.*1146A>T (n.*1146A>T)
c.1699A>T (n.1699A>T)
c.1319A>T (p.Glu440Val)
c.1367A>T (p.Glu456Val)
c.1463A>T (p.Glu488Val)
c.1409A>T (p.Glu470Val)
c.1370A>T (p.Glu457Val)
18g.33738892A>CCA402175579ASXL3c.1491A>C (p.Glu497Asp)
c.1488A>C (p.Glu496Asp)
c.*612A>C (n.*612A>C)
c.*1147A>C (n.*1147A>C)
c.1700A>C (n.1700A>C)
c.1320A>C (p.Glu440Asp)
c.1368A>C (p.Glu456Asp)
c.1464A>C (p.Glu488Asp)
c.1410A>C (p.Glu470Asp)
c.1371A>C (p.Glu457Asp)
18g.33738892A>GCA503768393ASXL3c.1491A>G (p.Glu497=)
c.1488A>G (p.Glu496=)
c.*612A>G (n.*612A>G)
c.*1147A>G (n.*1147A>G)
c.1700A>G (n.1700A>G)
c.1320A>G (p.Glu440=)
c.1368A>G (p.Glu456=)
c.1464A>G (p.Glu488=)
c.1410A>G (p.Glu470=)
c.1371A>G (p.Glu457=)
18g.33738892A>TCA402175581ASXL3c.1491A>T (p.Glu497Asp)
c.1488A>T (p.Glu496Asp)
c.*612A>T (n.*612A>T)
c.*1147A>T (n.*1147A>T)
c.1700A>T (n.1700A>T)
c.1320A>T (p.Glu440Asp)
c.1368A>T (p.Glu456Asp)
c.1464A>T (p.Glu488Asp)
c.1410A>T (p.Glu470Asp)
c.1371A>T (p.Glu457Asp)
18g.33738893G>ACA402175582ASXL3c.1492G>A (p.Asp498Asn)
c.1489G>A (p.Asp497Asn)
c.*613G>A (n.*613G>A)
c.*1148G>A (n.*1148G>A)
c.1701G>A (n.1701G>A)
c.1321G>A (p.Asp441Asn)
c.1369G>A (p.Asp457Asn)
c.1465G>A (p.Asp489Asn)
c.1411G>A (p.Asp471Asn)
c.1372G>A (p.Asp458Asn)
18g.33738893G>CCA402175584ASXL3c.1492G>C (p.Asp498His)
c.1489G>C (p.Asp497His)
c.*613G>C (n.*613G>C)
c.*1148G>C (n.*1148G>C)
c.1701G>C (n.1701G>C)
c.1321G>C (p.Asp441His)
c.1369G>C (p.Asp457His)
c.1465G>C (p.Asp489His)
c.1411G>C (p.Asp471His)
c.1372G>C (p.Asp458His)
18g.33738893G>TCA402175586ASXL3c.1492G>T (p.Asp498Tyr)
c.1489G>T (p.Asp497Tyr)
c.*613G>T (n.*613G>T)
c.*1148G>T (n.*1148G>T)
c.1701G>T (n.1701G>T)
c.1321G>T (p.Asp441Tyr)
c.1369G>T (p.Asp457Tyr)
c.1465G>T (p.Asp489Tyr)
c.1411G>T (p.Asp471Tyr)
c.1372G>T (p.Asp458Tyr)
18g.33738894A>CCA402175589ASXL3c.1493A>C (p.Asp498Ala)
c.1490A>C (p.Asp497Ala)
c.*614A>C (n.*614A>C)
c.*1149A>C (n.*1149A>C)
c.1702A>C (n.1702A>C)
c.1322A>C (p.Asp441Ala)
c.1370A>C (p.Asp457Ala)
c.1466A>C (p.Asp489Ala)
c.1412A>C (p.Asp471Ala)
c.1373A>C (p.Asp458Ala)
18g.33738894A>GCA402175592ASXL3c.1493A>G (p.Asp498Gly)
c.1490A>G (p.Asp497Gly)
c.*614A>G (n.*614A>G)
c.*1149A>G (n.*1149A>G)
c.1702A>G (n.1702A>G)
c.1322A>G (p.Asp441Gly)
c.1370A>G (p.Asp457Gly)
c.1466A>G (p.Asp489Gly)
c.1412A>G (p.Asp471Gly)
c.1373A>G (p.Asp458Gly)
 gnomAD v4
18g.33738894A>TCA402175593ASXL3c.1493A>T (p.Asp498Val)
c.1490A>T (p.Asp497Val)
c.*614A>T (n.*614A>T)
c.*1149A>T (n.*1149A>T)
c.1702A>T (n.1702A>T)
c.1322A>T (p.Asp441Val)
c.1370A>T (p.Asp457Val)
c.1466A>T (p.Asp489Val)
c.1412A>T (p.Asp471Val)
c.1373A>T (p.Asp458Val)
18g.33738895T>ACA8933761ASXL3c.1494T>A (p.Asp498Glu)
c.1491T>A (p.Asp497Glu)
c.*615T>A (n.*615T>A)
c.*1150T>A (n.*1150T>A)
c.1703T>A (n.1703T>A)
c.1323T>A (p.Asp441Glu)
c.1371T>A (p.Asp457Glu)
c.1467T>A (p.Asp489Glu)
c.1413T>A (p.Asp471Glu)
c.1374T>A (p.Asp458Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738895T>CCA503768395ASXL3c.1494T>C (p.Asp498=)
c.1491T>C (p.Asp497=)
c.*615T>C (n.*615T>C)
c.*1150T>C (n.*1150T>C)
c.1703T>C (n.1703T>C)
c.1323T>C (p.Asp441=)
c.1371T>C (p.Asp457=)
c.1467T>C (p.Asp489=)
c.1413T>C (p.Asp471=)
c.1374T>C (p.Asp458=)
18g.33738895T>GCA402175596ASXL3c.1494T>G (p.Asp498Glu)
c.1491T>G (p.Asp497Glu)
c.*615T>G (n.*615T>G)
c.*1150T>G (n.*1150T>G)
c.1703T>G (n.1703T>G)
c.1323T>G (p.Asp441Glu)
c.1371T>G (p.Asp457Glu)
c.1467T>G (p.Asp489Glu)
c.1413T>G (p.Asp471Glu)
c.1374T>G (p.Asp458Glu)
 dbSNP
18g.33738895T=CA2294855730ASXL3c.1494T= (p.Asp498=)
c.1491T= (p.Asp497=)
c.*615T= (n.*615T=)
c.*1150T= (n.*1150T=)
c.1703T= (n.1703T=)
c.1323T= (p.Asp441=)
c.1371T= (p.Asp457=)
c.1467T= (p.Asp489=)
c.1413T= (p.Asp471=)
c.1374T= (p.Asp458=)
18g.33738895dupCA658791348ASXL3c.1494dup (p.Asn499Ter)
c.1491dup (p.Asn498Ter)
c.*615dup (n.*615dup)
c.*1150dup (n.*1150dup)
c.1703dup (n.1703dup)
c.1323dup (p.Asn442Ter)
c.1371dup (p.Asn458Ter)
c.1467dup (p.Asn490Ter)
c.1413dup (p.Asn472Ter)
c.1374dup (p.Asn459Ter)
18g.33738896A=CA2294855731ASXL3c.1495A= (p.Asn499=)
c.1492A= (p.Asn498=)
c.*616A= (n.*616A=)
c.*1151A= (n.*1151A=)
c.1704A= (n.1704A=)
c.1324A= (p.Asn442=)
c.1372A= (p.Asn458=)
c.1468A= (p.Asn490=)
c.1414A= (p.Asn472=)
c.1375A= (p.Asn459=)
18g.33738896A>CCA402175599ASXL3c.1495A>C (p.Asn499His)
c.1492A>C (p.Asn498His)
c.*616A>C (n.*616A>C)
c.*1151A>C (n.*1151A>C)
c.1704A>C (n.1704A>C)
c.1324A>C (p.Asn442His)
c.1372A>C (p.Asn458His)
c.1468A>C (p.Asn490His)
c.1414A>C (p.Asn472His)
c.1375A>C (p.Asn459His)
18g.33738896A>GCA402175602ASXL3c.1495A>G (p.Asn499Asp)
c.1492A>G (p.Asn498Asp)
c.*616A>G (n.*616A>G)
c.*1151A>G (n.*1151A>G)
c.1704A>G (n.1704A>G)
c.1324A>G (p.Asn442Asp)
c.1372A>G (p.Asn458Asp)
c.1468A>G (p.Asn490Asp)
c.1414A>G (p.Asn472Asp)
c.1375A>G (p.Asn459Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.33738896A>TCA402175604ASXL3c.1495A>T (p.Asn499Tyr)
c.1492A>T (p.Asn498Tyr)
c.*616A>T (n.*616A>T)
c.*1151A>T (n.*1151A>T)
c.1704A>T (n.1704A>T)
c.1324A>T (p.Asn442Tyr)
c.1372A>T (p.Asn458Tyr)
c.1468A>T (p.Asn490Tyr)
c.1414A>T (p.Asn472Tyr)
c.1375A>T (p.Asn459Tyr)
18g.33738897A=CA2294855732ASXL3c.1496A= (p.Asn499=)
c.1493A= (p.Asn498=)
c.*617A= (n.*617A=)
c.*1152A= (n.*1152A=)
c.1705A= (n.1705A=)
c.1325A= (p.Asn442=)
c.1373A= (p.Asn458=)
c.1469A= (p.Asn490=)
c.1415A= (p.Asn472=)
c.1376A= (p.Asn459=)
18g.33738897A>CCA402175607ASXL3c.1496A>C (p.Asn499Thr)
c.1493A>C (p.Asn498Thr)
c.*617A>C (n.*617A>C)
c.*1152A>C (n.*1152A>C)
c.1705A>C (n.1705A>C)
c.1325A>C (p.Asn442Thr)
c.1373A>C (p.Asn458Thr)
c.1469A>C (p.Asn490Thr)
c.1415A>C (p.Asn472Thr)
c.1376A>C (p.Asn459Thr)
18g.33738897A>GCA402175612ASXL3c.1496A>G (p.Asn499Ser)
c.1493A>G (p.Asn498Ser)
c.*617A>G (n.*617A>G)
c.*1152A>G (n.*1152A>G)
c.1705A>G (n.1705A>G)
c.1325A>G (p.Asn442Ser)
c.1373A>G (p.Asn458Ser)
c.1469A>G (p.Asn490Ser)
c.1415A>G (p.Asn472Ser)
c.1376A>G (p.Asn459Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738897A>TCA402175610ASXL3c.1496A>T (p.Asn499Ile)
c.1493A>T (p.Asn498Ile)
c.*617A>T (n.*617A>T)
c.*1152A>T (n.*1152A>T)
c.1705A>T (n.1705A>T)
c.1325A>T (p.Asn442Ile)
c.1373A>T (p.Asn458Ile)
c.1469A>T (p.Asn490Ile)
c.1415A>T (p.Asn472Ile)
c.1376A>T (p.Asn459Ile)
18g.33738898C>ACA402175614ASXL3c.1497C>A (p.Asn499Lys)
c.1494C>A (p.Asn498Lys)
c.*618C>A (n.*618C>A)
c.*1153C>A (n.*1153C>A)
c.1706C>A (n.1706C>A)
c.1326C>A (p.Asn442Lys)
c.1374C>A (p.Asn458Lys)
c.1470C>A (p.Asn490Lys)
c.1416C>A (p.Asn472Lys)
c.1377C>A (p.Asn459Lys)
18g.33738898C=CA2294855733ASXL3c.1497C= (p.Asn499=)
c.1494C= (p.Asn498=)
c.*618C= (n.*618C=)
c.*1153C= (n.*1153C=)
c.1706C= (n.1706C=)
c.1326C= (p.Asn442=)
c.1374C= (p.Asn458=)
c.1470C= (p.Asn490=)
c.1416C= (p.Asn472=)
c.1377C= (p.Asn459=)
18g.33738898C>GCA402175616ASXL3c.1497C>G (p.Asn499Lys)
c.1494C>G (p.Asn498Lys)
c.*618C>G (n.*618C>G)
c.*1153C>G (n.*1153C>G)
c.1706C>G (n.1706C>G)
c.1326C>G (p.Asn442Lys)
c.1374C>G (p.Asn458Lys)
c.1470C>G (p.Asn490Lys)
c.1416C>G (p.Asn472Lys)
c.1377C>G (p.Asn459Lys)
18g.33738898C>TCA8933762ASXL3c.1497C>T (p.Asn499=)
c.1494C>T (p.Asn498=)
c.*618C>T (n.*618C>T)
c.*1153C>T (n.*1153C>T)
c.1706C>T (n.1706C>T)
c.1326C>T (p.Asn442=)
c.1374C>T (p.Asn458=)
c.1470C>T (p.Asn490=)
c.1416C>T (p.Asn472=)
c.1377C>T (p.Asn459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738899T>ACA402175620ASXL3c.1498T>A (p.Leu500Met)
c.1495T>A (p.Leu499Met)
c.*619T>A (n.*619T>A)
c.*1154T>A (n.*1154T>A)
c.1707T>A (n.1707T>A)
c.1327T>A (p.Leu443Met)
c.1375T>A (p.Leu459Met)
c.1471T>A (p.Leu491Met)
c.1417T>A (p.Leu473Met)
c.1378T>A (p.Leu460Met)
18g.33738899T>CCA503768399ASXL3c.1498T>C (p.Leu500=)
c.1495T>C (p.Leu499=)
c.*619T>C (n.*619T>C)
c.*1154T>C (n.*1154T>C)
c.1707T>C (n.1707T>C)
c.1327T>C (p.Leu443=)
c.1375T>C (p.Leu459=)
c.1471T>C (p.Leu491=)
c.1417T>C (p.Leu473=)
c.1378T>C (p.Leu460=)
 dbSNP
18g.33738899T>GCA402175622ASXL3c.1498T>G (p.Leu500Val)
c.1495T>G (p.Leu499Val)
c.*619T>G (n.*619T>G)
c.*1154T>G (n.*1154T>G)
c.1707T>G (n.1707T>G)
c.1327T>G (p.Leu443Val)
c.1375T>G (p.Leu459Val)
c.1471T>G (p.Leu491Val)
c.1417T>G (p.Leu473Val)
c.1378T>G (p.Leu460Val)
18g.33738899T=CA2294855734ASXL3c.1498T= (p.Leu500=)
c.1495T= (p.Leu499=)
c.*619T= (n.*619T=)
c.*1154T= (n.*1154T=)
c.1707T= (n.1707T=)
c.1327T= (p.Leu443=)
c.1375T= (p.Leu459=)
c.1471T= (p.Leu491=)
c.1417T= (p.Leu473=)
c.1378T= (p.Leu460=)
18g.33738900dupCA1139666019ASXL3c.1499dup (p.Leu500PhefsTer9)
c.1496dup (p.Leu499PhefsTer9)
c.*620dup (n.*620dup)
c.*1155dup (n.*1155dup)
c.1708dup (n.1708dup)
c.1328dup (p.Leu443PhefsTer9)
c.1376dup (p.Leu459PhefsTer9)
c.1472dup (p.Leu491PhefsTer9)
c.1418dup (p.Leu473PhefsTer9)
c.1379dup (p.Leu460PhefsTer9)
 ClinVar dbSNP
18g.33738900T>ACA402175625ASXL3c.1499T>A (p.Leu500Ter)
c.1496T>A (p.Leu499Ter)
c.*620T>A (n.*620T>A)
c.*1155T>A (n.*1155T>A)
c.1708T>A (n.1708T>A)
c.1328T>A (p.Leu443Ter)
c.1376T>A (p.Leu459Ter)
c.1472T>A (p.Leu491Ter)
c.1418T>A (p.Leu473Ter)
c.1379T>A (p.Leu460Ter)
18g.33738900T>CCA402175627ASXL3c.1499T>C (p.Leu500Ser)
c.1496T>C (p.Leu499Ser)
c.*620T>C (n.*620T>C)
c.*1155T>C (n.*1155T>C)
c.1708T>C (n.1708T>C)
c.1328T>C (p.Leu443Ser)
c.1376T>C (p.Leu459Ser)
c.1472T>C (p.Leu491Ser)
c.1418T>C (p.Leu473Ser)
c.1379T>C (p.Leu460Ser)
18g.33738900T>GCA402175629ASXL3c.1499T>G (p.Leu500Trp)
c.1496T>G (p.Leu499Trp)
c.*620T>G (n.*620T>G)
c.*1155T>G (n.*1155T>G)
c.1708T>G (n.1708T>G)
c.1328T>G (p.Leu443Trp)
c.1376T>G (p.Leu459Trp)
c.1472T>G (p.Leu491Trp)
c.1418T>G (p.Leu473Trp)
c.1379T>G (p.Leu460Trp)
18g.33738901G>ACA503768401ASXL3c.1500G>A (p.Leu500=)
c.1497G>A (p.Leu499=)
c.*621G>A (n.*621G>A)
c.*1156G>A (n.*1156G>A)
c.1709G>A (n.1709G>A)
c.1329G>A (p.Leu443=)
c.1377G>A (p.Leu459=)
c.1473G>A (p.Leu491=)
c.1419G>A (p.Leu473=)
c.1380G>A (p.Leu460=)
18g.33738901G>CCA402175631ASXL3c.1500G>C (p.Leu500Phe)
c.1497G>C (p.Leu499Phe)
c.*621G>C (n.*621G>C)
c.*1156G>C (n.*1156G>C)
c.1709G>C (n.1709G>C)
c.1329G>C (p.Leu443Phe)
c.1377G>C (p.Leu459Phe)
c.1473G>C (p.Leu491Phe)
c.1419G>C (p.Leu473Phe)
c.1380G>C (p.Leu460Phe)
18g.33738901G>TCA402175633ASXL3c.1500G>T (p.Leu500Phe)
c.1497G>T (p.Leu499Phe)
c.*621G>T (n.*621G>T)
c.*1156G>T (n.*1156G>T)
c.1709G>T (n.1709G>T)
c.1329G>T (p.Leu443Phe)
c.1377G>T (p.Leu459Phe)
c.1473G>T (p.Leu491Phe)
c.1419G>T (p.Leu473Phe)
c.1380G>T (p.Leu460Phe)
18g.33738902G>ACA402175644ASXL3c.1501G>A (p.Glu501Lys)
c.1498G>A (p.Glu500Lys)
c.*622G>A (n.*622G>A)
c.*1157G>A (n.*1157G>A)
c.1710G>A (n.1710G>A)
c.1330G>A (p.Glu444Lys)
c.1378G>A (p.Glu460Lys)
c.1474G>A (p.Glu492Lys)
c.1420G>A (p.Glu474Lys)
c.1381G>A (p.Glu461Lys)
18g.33738902G>CCA402175642ASXL3c.1501G>C (p.Glu501Gln)
c.1498G>C (p.Glu500Gln)
c.*622G>C (n.*622G>C)
c.*1157G>C (n.*1157G>C)
c.1710G>C (n.1710G>C)
c.1330G>C (p.Glu444Gln)
c.1378G>C (p.Glu460Gln)
c.1474G>C (p.Glu492Gln)
c.1420G>C (p.Glu474Gln)
c.1381G>C (p.Glu461Gln)
18g.33738902G>TCA402175640ASXL3c.1501G>T (p.Glu501Ter)
c.1498G>T (p.Glu500Ter)
c.*622G>T (n.*622G>T)
c.*1157G>T (n.*1157G>T)
c.1710G>T (n.1710G>T)
c.1330G>T (p.Glu444Ter)
c.1378G>T (p.Glu460Ter)
c.1474G>T (p.Glu492Ter)
c.1420G>T (p.Glu474Ter)
c.1381G>T (p.Glu461Ter)
 ClinVar
18g.33738902_33738903delinsGACA2294855735ASXL3c.1501_1502delinsGA (p.Glu501=)
c.1498_1499delinsGA (p.Glu500=)
c.*622_*623delinsGA (n.*622_*623delinsGA)
c.*1157_*1158delinsGA (n.*1157_*1158delinsGA)
c.1710_1711delinsGA (n.1710_1711delinsGA)
c.1330_1331delinsGA (p.Glu444=)
c.1378_1379delinsGA (p.Glu460=)
c.1474_1475delinsGA (p.Glu492=)
c.1420_1421delinsGA (p.Glu474=)
c.1381_1382delinsGA (p.Glu461=)
18g.33738903A>CCA402175646ASXL3c.1502A>C (p.Glu501Ala)
c.1499A>C (p.Glu500Ala)
c.*623A>C (n.*623A>C)
c.*1158A>C (n.*1158A>C)
c.1711A>C (n.1711A>C)
c.1331A>C (p.Glu444Ala)
c.1379A>C (p.Glu460Ala)
c.1475A>C (p.Glu492Ala)
c.1421A>C (p.Glu474Ala)
c.1382A>C (p.Glu461Ala)
18g.33738903A>GCA402175647ASXL3c.1502A>G (p.Glu501Gly)
c.1499A>G (p.Glu500Gly)
c.*623A>G (n.*623A>G)
c.*1158A>G (n.*1158A>G)
c.1711A>G (n.1711A>G)
c.1331A>G (p.Glu444Gly)
c.1379A>G (p.Glu460Gly)
c.1475A>G (p.Glu492Gly)
c.1421A>G (p.Glu474Gly)
c.1382A>G (p.Glu461Gly)
18g.33738903A>TCA402175650ASXL3c.1502A>T (p.Glu501Val)
c.1499A>T (p.Glu500Val)
c.*623A>T (n.*623A>T)
c.*1158A>T (n.*1158A>T)
c.1711A>T (n.1711A>T)
c.1331A>T (p.Glu444Val)
c.1379A>T (p.Glu460Val)
c.1475A>T (p.Glu492Val)
c.1421A>T (p.Glu474Val)
c.1382A>T (p.Glu461Val)
18g.33738904delCA658824627ASXL3c.1503del (p.Glu501AspfsTer5)
c.1500del (p.Glu500AspfsTer5)
c.*624del (n.*624del)
c.*1159del (n.*1159del)
c.1712del (n.1712del)
c.1332del (p.Glu444AspfsTer5)
c.1380del (p.Glu460AspfsTer5)
c.1476del (p.Glu492AspfsTer5)
c.1422del (p.Glu474AspfsTer5)
c.1383del (p.Glu461AspfsTer5)
 ClinVar dbSNP
18g.33738904A=CA2294855736ASXL3c.1503A= (p.Glu501=)
c.1500A= (p.Glu500=)
c.*624A= (n.*624A=)
c.*1159A= (n.*1159A=)
c.1712A= (n.1712A=)
c.1332A= (p.Glu444=)
c.1380A= (p.Glu460=)
c.1476A= (p.Glu492=)
c.1422A= (p.Glu474=)
c.1383A= (p.Glu461=)
18g.33738904A>CCA402175653ASXL3c.1503A>C (p.Glu501Asp)
c.1500A>C (p.Glu500Asp)
c.*624A>C (n.*624A>C)
c.*1159A>C (n.*1159A>C)
c.1712A>C (n.1712A>C)
c.1332A>C (p.Glu444Asp)
c.1380A>C (p.Glu460Asp)
c.1476A>C (p.Glu492Asp)
c.1422A>C (p.Glu474Asp)
c.1383A>C (p.Glu461Asp)
18g.33738904A>GCA503768406ASXL3c.1503A>G (p.Glu501=)
c.1500A>G (p.Glu500=)
c.*624A>G (n.*624A>G)
c.*1159A>G (n.*1159A>G)
c.1712A>G (n.1712A>G)
c.1332A>G (p.Glu444=)
c.1380A>G (p.Glu460=)
c.1476A>G (p.Glu492=)
c.1422A>G (p.Glu474=)
c.1383A>G (p.Glu461=)
 dbSNP gnomAD v4
18g.33738904A>TCA402175659ASXL3c.1503A>T (p.Glu501Asp)
c.1500A>T (p.Glu500Asp)
c.*624A>T (n.*624A>T)
c.*1159A>T (n.*1159A>T)
c.1712A>T (n.1712A>T)
c.1332A>T (p.Glu444Asp)
c.1380A>T (p.Glu460Asp)
c.1476A>T (p.Glu492Asp)
c.1422A>T (p.Glu474Asp)
c.1383A>T (p.Glu461Asp)
18g.33738905T>ACA402175666ASXL3c.1504T>A (p.Ser502Thr)
c.1501T>A (p.Ser501Thr)
c.*625T>A (n.*625T>A)
c.*1160T>A (n.*1160T>A)
c.1713T>A (n.1713T>A)
c.1333T>A (p.Ser445Thr)
c.1381T>A (p.Ser461Thr)
c.1477T>A (p.Ser493Thr)
c.1423T>A (p.Ser475Thr)
c.1384T>A (p.Ser462Thr)
18g.33738905T>CCA402175664ASXL3c.1504T>C (p.Ser502Pro)
c.1501T>C (p.Ser501Pro)
c.*625T>C (n.*625T>C)
c.*1160T>C (n.*1160T>C)
c.1713T>C (n.1713T>C)
c.1333T>C (p.Ser445Pro)
c.1381T>C (p.Ser461Pro)
c.1477T>C (p.Ser493Pro)
c.1423T>C (p.Ser475Pro)
c.1384T>C (p.Ser462Pro)
18g.33738905T>GCA402175662ASXL3c.1504T>G (p.Ser502Ala)
c.1501T>G (p.Ser501Ala)
c.*625T>G (n.*625T>G)
c.*1160T>G (n.*1160T>G)
c.1713T>G (n.1713T>G)
c.1333T>G (p.Ser445Ala)
c.1381T>G (p.Ser461Ala)
c.1477T>G (p.Ser493Ala)
c.1423T>G (p.Ser475Ala)
c.1384T>G (p.Ser462Ala)
18g.33738906C>ACA402175669ASXL3c.1505C>A (p.Ser502Tyr)
c.1502C>A (p.Ser501Tyr)
c.*626C>A (n.*626C>A)
c.*1161C>A (n.*1161C>A)
c.1714C>A (n.1714C>A)
c.1334C>A (p.Ser445Tyr)
c.1382C>A (p.Ser461Tyr)
c.1478C>A (p.Ser493Tyr)
c.1424C>A (p.Ser475Tyr)
c.1385C>A (p.Ser462Tyr)
18g.33738906C>GCA402175671ASXL3c.1505C>G (p.Ser502Cys)
c.1502C>G (p.Ser501Cys)
c.*626C>G (n.*626C>G)
c.*1161C>G (n.*1161C>G)
c.1714C>G (n.1714C>G)
c.1334C>G (p.Ser445Cys)
c.1382C>G (p.Ser461Cys)
c.1478C>G (p.Ser493Cys)
c.1424C>G (p.Ser475Cys)
c.1385C>G (p.Ser462Cys)
18g.33738906C>TCA402175673ASXL3c.1505C>T (p.Ser502Phe)
c.1502C>T (p.Ser501Phe)
c.*626C>T (n.*626C>T)
c.*1161C>T (n.*1161C>T)
c.1714C>T (n.1714C>T)
c.1334C>T (p.Ser445Phe)
c.1382C>T (p.Ser461Phe)
c.1478C>T (p.Ser493Phe)
c.1424C>T (p.Ser475Phe)
c.1385C>T (p.Ser462Phe)
18g.33738907C>ACA503768410ASXL3c.1506C>A (p.Ser502=)
c.1503C>A (p.Ser501=)
c.*627C>A (n.*627C>A)
c.*1162C>A (n.*1162C>A)
c.1715C>A (n.1715C>A)
c.1335C>A (p.Ser445=)
c.1383C>A (p.Ser461=)
c.1479C>A (p.Ser493=)
c.1425C>A (p.Ser475=)
c.1386C>A (p.Ser462=)
 COSMIC COSMIC
18g.33738907C>GCA503768411ASXL3c.1506C>G (p.Ser502=)
c.1503C>G (p.Ser501=)
c.*627C>G (n.*627C>G)
c.*1162C>G (n.*1162C>G)
c.1715C>G (n.1715C>G)
c.1335C>G (p.Ser445=)
c.1383C>G (p.Ser461=)
c.1479C>G (p.Ser493=)
c.1425C>G (p.Ser475=)
c.1386C>G (p.Ser462=)
18g.33738907C>TCA503768412ASXL3c.1506C>T (p.Ser502=)
c.1503C>T (p.Ser501=)
c.*627C>T (n.*627C>T)
c.*1162C>T (n.*1162C>T)
c.1715C>T (n.1715C>T)
c.1335C>T (p.Ser445=)
c.1383C>T (p.Ser461=)
c.1479C>T (p.Ser493=)
c.1425C>T (p.Ser475=)
c.1386C>T (p.Ser462=)
18g.33738908T>ACA402175677ASXL3c.1507T>A (p.Cys503Ser)
c.1504T>A (p.Cys502Ser)
c.*628T>A (n.*628T>A)
c.*1163T>A (n.*1163T>A)
c.1716T>A (n.1716T>A)
c.1336T>A (p.Cys446Ser)
c.1384T>A (p.Cys462Ser)
c.1480T>A (p.Cys494Ser)
c.1426T>A (p.Cys476Ser)
c.1387T>A (p.Cys463Ser)
18g.33738908T>CCA8933763ASXL3c.1507T>C (p.Cys503Arg)
c.1504T>C (p.Cys502Arg)
c.*628T>C (n.*628T>C)
c.*1163T>C (n.*1163T>C)
c.1716T>C (n.1716T>C)
c.1336T>C (p.Cys446Arg)
c.1384T>C (p.Cys462Arg)
c.1480T>C (p.Cys494Arg)
c.1426T>C (p.Cys476Arg)
c.1387T>C (p.Cys463Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738908T>GCA402175681ASXL3c.1507T>G (p.Cys503Gly)
c.1504T>G (p.Cys502Gly)
c.*628T>G (n.*628T>G)
c.*1163T>G (n.*1163T>G)
c.1716T>G (n.1716T>G)
c.1336T>G (p.Cys446Gly)
c.1384T>G (p.Cys462Gly)
c.1480T>G (p.Cys494Gly)
c.1426T>G (p.Cys476Gly)
c.1387T>G (p.Cys463Gly)
18g.33738908T=CA2294855737ASXL3c.1507T= (p.Cys503=)
c.1504T= (p.Cys502=)
c.*628T= (n.*628T=)
c.*1163T= (n.*1163T=)
c.1716T= (n.1716T=)
c.1336T= (p.Cys446=)
c.1384T= (p.Cys462=)
c.1480T= (p.Cys494=)
c.1426T= (p.Cys476=)
c.1387T= (p.Cys463=)
18g.33738909_33738912dupCA2695227381ASXL3c.1508_1511dup (p.Met505CysfsTer5)
c.1505_1508dup (p.Met504CysfsTer5)
c.*629_*632dup (n.*629_*632dup)
c.*1164_*1167dup (n.*1164_*1167dup)
c.1717_1720dup (n.1717_1720dup)
c.1337_1340dup (p.Met448CysfsTer5)
c.1385_1388dup (p.Met464CysfsTer5)
c.1481_1484dup (p.Met496CysfsTer5)
c.1427_1430dup (p.Met478CysfsTer5)
c.1388_1391dup (p.Met465CysfsTer5)
18g.33738909G>ACA402175684ASXL3c.1508G>A (p.Cys503Tyr)
c.1505G>A (p.Cys502Tyr)
c.*629G>A (n.*629G>A)
c.*1164G>A (n.*1164G>A)
c.1717G>A (n.1717G>A)
c.1337G>A (p.Cys446Tyr)
c.1385G>A (p.Cys462Tyr)
c.1481G>A (p.Cys494Tyr)
c.1427G>A (p.Cys476Tyr)
c.1388G>A (p.Cys463Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738909G>CCA402175689ASXL3c.1508G>C (p.Cys503Ser)
c.1505G>C (p.Cys502Ser)
c.*629G>C (n.*629G>C)
c.*1164G>C (n.*1164G>C)
c.1717G>C (n.1717G>C)
c.1337G>C (p.Cys446Ser)
c.1385G>C (p.Cys462Ser)
c.1481G>C (p.Cys494Ser)
c.1427G>C (p.Cys476Ser)
c.1388G>C (p.Cys463Ser)
18g.33738909G=CA2294855738ASXL3c.1508G= (p.Cys503=)
c.1505G= (p.Cys502=)
c.*629G= (n.*629G=)
c.*1164G= (n.*1164G=)
c.1717G= (n.1717G=)
c.1337G= (p.Cys446=)
c.1385G= (p.Cys462=)
c.1481G= (p.Cys494=)
c.1427G= (p.Cys476=)
c.1388G= (p.Cys463=)
18g.33738909G>TCA402175686ASXL3c.1508G>T (p.Cys503Phe)
c.1505G>T (p.Cys502Phe)
c.*629G>T (n.*629G>T)
c.*1164G>T (n.*1164G>T)
c.1717G>T (n.1717G>T)
c.1337G>T (p.Cys446Phe)
c.1385G>T (p.Cys462Phe)
c.1481G>T (p.Cys494Phe)
c.1427G>T (p.Cys476Phe)
c.1388G>T (p.Cys463Phe)
 gnomAD v4
18g.33738910T>ACA402175692ASXL3c.1509T>A (p.Cys503Ter)
c.1506T>A (p.Cys502Ter)
c.*630T>A (n.*630T>A)
c.*1165T>A (n.*1165T>A)
c.1718T>A (n.1718T>A)
c.1338T>A (p.Cys446Ter)
c.1386T>A (p.Cys462Ter)
c.1482T>A (p.Cys494Ter)
c.1428T>A (p.Cys476Ter)
c.1389T>A (p.Cys463Ter)
18g.33738910T>CCA503768415ASXL3c.1509T>C (p.Cys503=)
c.1506T>C (p.Cys502=)
c.*630T>C (n.*630T>C)
c.*1165T>C (n.*1165T>C)
c.1718T>C (n.1718T>C)
c.1338T>C (p.Cys446=)
c.1386T>C (p.Cys462=)
c.1482T>C (p.Cys494=)
c.1428T>C (p.Cys476=)
c.1389T>C (p.Cys463=)
18g.33738910T>GCA402175694ASXL3c.1509T>G (p.Cys503Trp)
c.1506T>G (p.Cys502Trp)
c.*630T>G (n.*630T>G)
c.*1165T>G (n.*1165T>G)
c.1718T>G (n.1718T>G)
c.1338T>G (p.Cys446Trp)
c.1386T>G (p.Cys462Trp)
c.1482T>G (p.Cys494Trp)
c.1428T>G (p.Cys476Trp)
c.1389T>G (p.Cys463Trp)
18g.33738911G>ACA402175697ASXL3c.1510G>A (p.Val504Ile)
c.1507G>A (p.Val503Ile)
c.*631G>A (n.*631G>A)
c.*1166G>A (n.*1166G>A)
c.1719G>A (n.1719G>A)
c.1339G>A (p.Val447Ile)
c.1387G>A (p.Val463Ile)
c.1483G>A (p.Val495Ile)
c.1429G>A (p.Val477Ile)
c.1390G>A (p.Val464Ile)
18g.33738911G>CCA402175699ASXL3c.1510G>C (p.Val504Leu)
c.1507G>C (p.Val503Leu)
c.*631G>C (n.*631G>C)
c.*1166G>C (n.*1166G>C)
c.1719G>C (n.1719G>C)
c.1339G>C (p.Val447Leu)
c.1387G>C (p.Val463Leu)
c.1483G>C (p.Val495Leu)
c.1429G>C (p.Val477Leu)
c.1390G>C (p.Val464Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.33738911G=CA2294855739ASXL3c.1510G= (p.Val504=)
c.1507G= (p.Val503=)
c.*631G= (n.*631G=)
c.*1166G= (n.*1166G=)
c.1719G= (n.1719G=)
c.1339G= (p.Val447=)
c.1387G= (p.Val463=)
c.1483G= (p.Val495=)
c.1429G= (p.Val477=)
c.1390G= (p.Val464=)
18g.33738911G>TCA402175703ASXL3c.1510G>T (p.Val504Phe)
c.1507G>T (p.Val503Phe)
c.*631G>T (n.*631G>T)
c.*1166G>T (n.*1166G>T)
c.1719G>T (n.1719G>T)
c.1339G>T (p.Val447Phe)
c.1387G>T (p.Val463Phe)
c.1483G>T (p.Val495Phe)
c.1429G>T (p.Val477Phe)
c.1390G>T (p.Val464Phe)
18g.33738912T>ACA402175705ASXL3c.1511T>A (p.Val504Asp)
c.1508T>A (p.Val503Asp)
c.*632T>A (n.*632T>A)
c.*1167T>A (n.*1167T>A)
c.1720T>A (n.1720T>A)
c.1340T>A (p.Val447Asp)
c.1388T>A (p.Val463Asp)
c.1484T>A (p.Val495Asp)
c.1430T>A (p.Val477Asp)
c.1391T>A (p.Val464Asp)
18g.33738912T>CCA402175706ASXL3c.1511T>C (p.Val504Ala)
c.1508T>C (p.Val503Ala)
c.*632T>C (n.*632T>C)
c.*1167T>C (n.*1167T>C)
c.1720T>C (n.1720T>C)
c.1340T>C (p.Val447Ala)
c.1388T>C (p.Val463Ala)
c.1484T>C (p.Val495Ala)
c.1430T>C (p.Val477Ala)
c.1391T>C (p.Val464Ala)
18g.33738912T>GCA8933764ASXL3c.1511T>G (p.Val504Gly)
c.1508T>G (p.Val503Gly)
c.*632T>G (n.*632T>G)
c.*1167T>G (n.*1167T>G)
c.1720T>G (n.1720T>G)
c.1340T>G (p.Val447Gly)
c.1388T>G (p.Val463Gly)
c.1484T>G (p.Val495Gly)
c.1430T>G (p.Val477Gly)
c.1391T>G (p.Val464Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738912T=CA2294855740ASXL3c.1511T= (p.Val504=)
c.1508T= (p.Val503=)
c.*632T= (n.*632T=)
c.*1167T= (n.*1167T=)
c.1720T= (n.1720T=)
c.1340T= (p.Val447=)
c.1388T= (p.Val463=)
c.1484T= (p.Val495=)
c.1430T= (p.Val477=)
c.1391T= (p.Val464=)
18g.33738913T>ACA503768419ASXL3c.1512T>A (p.Val504=)
c.1509T>A (p.Val503=)
c.*633T>A (n.*633T>A)
c.*1168T>A (n.*1168T>A)
c.1721T>A (n.1721T>A)
c.1341T>A (p.Val447=)
c.1389T>A (p.Val463=)
c.1485T>A (p.Val495=)
c.1431T>A (p.Val477=)
c.1392T>A (p.Val464=)
18g.33738913T>CCA503768420ASXL3c.1512T>C (p.Val504=)
c.1509T>C (p.Val503=)
c.*633T>C (n.*633T>C)
c.*1168T>C (n.*1168T>C)
c.1721T>C (n.1721T>C)
c.1341T>C (p.Val447=)
c.1389T>C (p.Val463=)
c.1485T>C (p.Val495=)
c.1431T>C (p.Val477=)
c.1392T>C (p.Val464=)
18g.33738913T>GCA503768421ASXL3c.1512T>G (p.Val504=)
c.1509T>G (p.Val503=)
c.*633T>G (n.*633T>G)
c.*1168T>G (n.*1168T>G)
c.1721T>G (n.1721T>G)
c.1341T>G (p.Val447=)
c.1389T>G (p.Val463=)
c.1485T>G (p.Val495=)
c.1431T>G (p.Val477=)
c.1392T>G (p.Val464=)
18g.33738914A=CA2294855741ASXL3c.1513A= (p.Met505=)
c.1510A= (p.Met504=)
c.*634A= (n.*634A=)
c.*1169A= (n.*1169A=)
c.1722A= (n.1722A=)
c.1342A= (p.Met448=)
c.1390A= (p.Met464=)
c.1486A= (p.Met496=)
c.1432A= (p.Met478=)
c.1393A= (p.Met465=)
18g.33738914A>CCA402175712ASXL3c.1513A>C (p.Met505Leu)
c.1510A>C (p.Met504Leu)
c.*634A>C (n.*634A>C)
c.*1169A>C (n.*1169A>C)
c.1722A>C (n.1722A>C)
c.1342A>C (p.Met448Leu)
c.1390A>C (p.Met464Leu)
c.1486A>C (p.Met496Leu)
c.1432A>C (p.Met478Leu)
c.1393A>C (p.Met465Leu)
18g.33738914A>GCA8933765ASXL3c.1513A>G (p.Met505Val)
c.1510A>G (p.Met504Val)
c.*634A>G (n.*634A>G)
c.*1169A>G (n.*1169A>G)
c.1722A>G (n.1722A>G)
c.1342A>G (p.Met448Val)
c.1390A>G (p.Met464Val)
c.1486A>G (p.Met496Val)
c.1432A>G (p.Met478Val)
c.1393A>G (p.Met465Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738914A>TCA402175716ASXL3c.1513A>T (p.Met505Leu)
c.1510A>T (p.Met504Leu)
c.*634A>T (n.*634A>T)
c.*1169A>T (n.*1169A>T)
c.1722A>T (n.1722A>T)
c.1342A>T (p.Met448Leu)
c.1390A>T (p.Met464Leu)
c.1486A>T (p.Met496Leu)
c.1432A>T (p.Met478Leu)
c.1393A>T (p.Met465Leu)
18g.33738920_33738926delCA2739291098ASXL3c.1519_1525del (p.Asn507PhefsTer2)
c.1516_1522del (p.Asn506PhefsTer2)
c.*640_*646del (n.*640_*646del)
c.*1175_*1181del (n.*1175_*1181del)
c.1728_1734del (n.1728_1734del)
c.1348_1354del (p.Asn450PhefsTer2)
c.1396_1402del (p.Asn466PhefsTer2)
c.1492_1498del (p.Asn498PhefsTer2)
c.1438_1444del (p.Asn480PhefsTer2)
c.1399_1405del (p.Asn467PhefsTer2)
18g.33738915T>ACA402175722ASXL3c.1514T>A (p.Met505Lys)
c.1511T>A (p.Met504Lys)
c.*635T>A (n.*635T>A)
c.*1170T>A (n.*1170T>A)
c.1723T>A (n.1723T>A)
c.1343T>A (p.Met448Lys)
c.1391T>A (p.Met464Lys)
c.1487T>A (p.Met496Lys)
c.1433T>A (p.Met478Lys)
c.1394T>A (p.Met465Lys)
18g.33738915T>CCA8933766ASXL3c.1514T>C (p.Met505Thr)
c.1511T>C (p.Met504Thr)
c.*635T>C (n.*635T>C)
c.*1170T>C (n.*1170T>C)
c.1723T>C (n.1723T>C)
c.1343T>C (p.Met448Thr)
c.1391T>C (p.Met464Thr)
c.1487T>C (p.Met496Thr)
c.1433T>C (p.Met478Thr)
c.1394T>C (p.Met465Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738915T>GCA402175719ASXL3c.1514T>G (p.Met505Arg)
c.1511T>G (p.Met504Arg)
c.*635T>G (n.*635T>G)
c.*1170T>G (n.*1170T>G)
c.1723T>G (n.1723T>G)
c.1343T>G (p.Met448Arg)
c.1391T>G (p.Met464Arg)
c.1487T>G (p.Met496Arg)
c.1433T>G (p.Met478Arg)
c.1394T>G (p.Met465Arg)
 gnomAD v4
18g.33738915T=CA2294855742ASXL3c.1514T= (p.Met505=)
c.1511T= (p.Met504=)
c.*635T= (n.*635T=)
c.*1170T= (n.*1170T=)
c.1723T= (n.1723T=)
c.1343T= (p.Met448=)
c.1391T= (p.Met464=)
c.1487T= (p.Met496=)
c.1433T= (p.Met478=)
c.1394T= (p.Met465=)
18g.33738916G>ACA402175727ASXL3c.1515G>A (p.Met505Ile)
c.1512G>A (p.Met504Ile)
c.*636G>A (n.*636G>A)
c.*1171G>A (n.*1171G>A)
c.1724G>A (n.1724G>A)
c.1344G>A (p.Met448Ile)
c.1392G>A (p.Met464Ile)
c.1488G>A (p.Met496Ile)
c.1434G>A (p.Met478Ile)
c.1395G>A (p.Met465Ile)
 COSMIC COSMIC
18g.33738916G>CCA402175725ASXL3c.1515G>C (p.Met505Ile)
c.1512G>C (p.Met504Ile)
c.*636G>C (n.*636G>C)
c.*1171G>C (n.*1171G>C)
c.1724G>C (n.1724G>C)
c.1344G>C (p.Met448Ile)
c.1392G>C (p.Met464Ile)
c.1488G>C (p.Met496Ile)
c.1434G>C (p.Met478Ile)
c.1395G>C (p.Met465Ile)
18g.33738916G>TCA402175729ASXL3c.1515G>T (p.Met505Ile)
c.1512G>T (p.Met504Ile)
c.*636G>T (n.*636G>T)
c.*1171G>T (n.*1171G>T)
c.1724G>T (n.1724G>T)
c.1344G>T (p.Met448Ile)
c.1392G>T (p.Met464Ile)
c.1488G>T (p.Met496Ile)
c.1434G>T (p.Met478Ile)
c.1395G>T (p.Met465Ile)
18g.33738917A>CCA402175733ASXL3c.1516A>C (p.Met506Leu)
c.1513A>C (p.Met505Leu)
c.*637A>C (n.*637A>C)
c.*1172A>C (n.*1172A>C)
c.1725A>C (n.1725A>C)
c.1345A>C (p.Met449Leu)
c.1393A>C (p.Met465Leu)
c.1489A>C (p.Met497Leu)
c.1435A>C (p.Met479Leu)
c.1396A>C (p.Met466Leu)
18g.33738917A>GCA402175737ASXL3c.1516A>G (p.Met506Val)
c.1513A>G (p.Met505Val)
c.*637A>G (n.*637A>G)
c.*1172A>G (n.*1172A>G)
c.1725A>G (n.1725A>G)
c.1345A>G (p.Met449Val)
c.1393A>G (p.Met465Val)
c.1489A>G (p.Met497Val)
c.1435A>G (p.Met479Val)
c.1396A>G (p.Met466Val)
18g.33738917A>TCA402175735ASXL3c.1516A>T (p.Met506Leu)
c.1513A>T (p.Met505Leu)
c.*637A>T (n.*637A>T)
c.*1172A>T (n.*1172A>T)
c.1725A>T (n.1725A>T)
c.1345A>T (p.Met449Leu)
c.1393A>T (p.Met465Leu)
c.1489A>T (p.Met497Leu)
c.1435A>T (p.Met479Leu)
c.1396A>T (p.Met466Leu)
 gnomAD v4
18g.33738918T>ACA402175740ASXL3c.1517T>A (p.Met506Lys)
c.1514T>A (p.Met505Lys)
c.*638T>A (n.*638T>A)
c.*1173T>A (n.*1173T>A)
c.1726T>A (n.1726T>A)
c.1346T>A (p.Met449Lys)
c.1394T>A (p.Met465Lys)
c.1490T>A (p.Met497Lys)
c.1436T>A (p.Met479Lys)
c.1397T>A (p.Met466Lys)
18g.33738918T>CCA402175742ASXL3c.1517T>C (p.Met506Thr)
c.1514T>C (p.Met505Thr)
c.*638T>C (n.*638T>C)
c.*1173T>C (n.*1173T>C)
c.1726T>C (n.1726T>C)
c.1346T>C (p.Met449Thr)
c.1394T>C (p.Met465Thr)
c.1490T>C (p.Met497Thr)
c.1436T>C (p.Met479Thr)
c.1397T>C (p.Met466Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738918T>GCA402175741ASXL3c.1517T>G (p.Met506Arg)
c.1514T>G (p.Met505Arg)
c.*638T>G (n.*638T>G)
c.*1173T>G (n.*1173T>G)
c.1726T>G (n.1726T>G)
c.1346T>G (p.Met449Arg)
c.1394T>G (p.Met465Arg)
c.1490T>G (p.Met497Arg)
c.1436T>G (p.Met479Arg)
c.1397T>G (p.Met466Arg)
18g.33738918T=CA2294855743ASXL3c.1517T= (p.Met506=)
c.1514T= (p.Met505=)
c.*638T= (n.*638T=)
c.*1173T= (n.*1173T=)
c.1726T= (n.1726T=)
c.1346T= (p.Met449=)
c.1394T= (p.Met465=)
c.1490T= (p.Met497=)
c.1436T= (p.Met479=)
c.1397T= (p.Met466=)
18g.33738919G>ACA297786737ASXL3c.1518G>A (p.Met506Ile)
c.1515G>A (p.Met505Ile)
c.*639G>A (n.*639G>A)
c.*1174G>A (n.*1174G>A)
c.1727G>A (n.1727G>A)
c.1347G>A (p.Met449Ile)
c.1395G>A (p.Met465Ile)
c.1491G>A (p.Met497Ile)
c.1437G>A (p.Met479Ile)
c.1398G>A (p.Met466Ile)
 dbSNP
18g.33738919G>CCA402175743ASXL3c.1518G>C (p.Met506Ile)
c.1515G>C (p.Met505Ile)
c.*639G>C (n.*639G>C)
c.*1174G>C (n.*1174G>C)
c.1727G>C (n.1727G>C)
c.1347G>C (p.Met449Ile)
c.1395G>C (p.Met465Ile)
c.1491G>C (p.Met497Ile)
c.1437G>C (p.Met479Ile)
c.1398G>C (p.Met466Ile)
18g.33738919G=CA2294855744ASXL3c.1518G= (p.Met506=)
c.1515G= (p.Met505=)
c.*639G= (n.*639G=)
c.*1174G= (n.*1174G=)
c.1727G= (n.1727G=)
c.1347G= (p.Met449=)
c.1395G= (p.Met465=)
c.1491G= (p.Met497=)
c.1437G= (p.Met479=)
c.1398G= (p.Met466=)
18g.33738919G>TCA8933767ASXL3c.1518G>T (p.Met506Ile)
c.1515G>T (p.Met505Ile)
c.*639G>T (n.*639G>T)
c.*1174G>T (n.*1174G>T)
c.1727G>T (n.1727G>T)
c.1347G>T (p.Met449Ile)
c.1395G>T (p.Met465Ile)
c.1491G>T (p.Met497Ile)
c.1437G>T (p.Met479Ile)
c.1398G>T (p.Met466Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738920A>CCA402175744ASXL3c.1519A>C (p.Asn507His)
c.1516A>C (p.Asn506His)
c.*640A>C (n.*640A>C)
c.*1175A>C (n.*1175A>C)
c.1728A>C (n.1728A>C)
c.1348A>C (p.Asn450His)
c.1396A>C (p.Asn466His)
c.1492A>C (p.Asn498His)
c.1438A>C (p.Asn480His)
c.1399A>C (p.Asn467His)
18g.33738920A>GCA402175745ASXL3c.1519A>G (p.Asn507Asp)
c.1516A>G (p.Asn506Asp)
c.*640A>G (n.*640A>G)
c.*1175A>G (n.*1175A>G)
c.1728A>G (n.1728A>G)
c.1348A>G (p.Asn450Asp)
c.1396A>G (p.Asn466Asp)
c.1492A>G (p.Asn498Asp)
c.1438A>G (p.Asn480Asp)
c.1399A>G (p.Asn467Asp)
18g.33738920A>TCA402175746ASXL3c.1519A>T (p.Asn507Tyr)
c.1516A>T (p.Asn506Tyr)
c.*640A>T (n.*640A>T)
c.*1175A>T (n.*1175A>T)
c.1728A>T (n.1728A>T)
c.1348A>T (p.Asn450Tyr)
c.1396A>T (p.Asn466Tyr)
c.1492A>T (p.Asn498Tyr)
c.1438A>T (p.Asn480Tyr)
c.1399A>T (p.Asn467Tyr)
18g.33738921A>CCA402175747ASXL3c.1520A>C (p.Asn507Thr)
c.1517A>C (p.Asn506Thr)
c.*641A>C (n.*641A>C)
c.*1176A>C (n.*1176A>C)
c.1729A>C (n.1729A>C)
c.1349A>C (p.Asn450Thr)
c.1397A>C (p.Asn466Thr)
c.1493A>C (p.Asn498Thr)
c.1439A>C (p.Asn480Thr)
c.1400A>C (p.Asn467Thr)
18g.33738921A>GCA402175748ASXL3c.1520A>G (p.Asn507Ser)
c.1517A>G (p.Asn506Ser)
c.*641A>G (n.*641A>G)
c.*1176A>G (n.*1176A>G)
c.1729A>G (n.1729A>G)
c.1349A>G (p.Asn450Ser)
c.1397A>G (p.Asn466Ser)
c.1493A>G (p.Asn498Ser)
c.1439A>G (p.Asn480Ser)
c.1400A>G (p.Asn467Ser)
18g.33738921A>TCA402175749ASXL3c.1520A>T (p.Asn507Ile)
c.1517A>T (p.Asn506Ile)
c.*641A>T (n.*641A>T)
c.*1176A>T (n.*1176A>T)
c.1729A>T (n.1729A>T)
c.1349A>T (p.Asn450Ile)
c.1397A>T (p.Asn466Ile)
c.1493A>T (p.Asn498Ile)
c.1439A>T (p.Asn480Ile)
c.1400A>T (p.Asn467Ile)
18g.33738922T>ACA402175750ASXL3c.1521T>A (p.Asn507Lys)
c.1518T>A (p.Asn506Lys)
c.*642T>A (n.*642T>A)
c.*1177T>A (n.*1177T>A)
c.1730T>A (n.1730T>A)
c.1350T>A (p.Asn450Lys)
c.1398T>A (p.Asn466Lys)
c.1494T>A (p.Asn498Lys)
c.1440T>A (p.Asn480Lys)
c.1401T>A (p.Asn467Lys)
18g.33738922T>CCA503768426ASXL3c.1521T>C (p.Asn507=)
c.1518T>C (p.Asn506=)
c.*642T>C (n.*642T>C)
c.*1177T>C (n.*1177T>C)
c.1730T>C (n.1730T>C)
c.1350T>C (p.Asn450=)
c.1398T>C (p.Asn466=)
c.1494T>C (p.Asn498=)
c.1440T>C (p.Asn480=)
c.1401T>C (p.Asn467=)
18g.33738922T>GCA402175751ASXL3c.1521T>G (p.Asn507Lys)
c.1518T>G (p.Asn506Lys)
c.*642T>G (n.*642T>G)
c.*1177T>G (n.*1177T>G)
c.1730T>G (n.1730T>G)
c.1350T>G (p.Asn450Lys)
c.1398T>G (p.Asn466Lys)
c.1494T>G (p.Asn498Lys)
c.1440T>G (p.Asn480Lys)
c.1401T>G (p.Asn467Lys)
18g.33738923G>ACA297786745ASXL3c.1522G>A (p.Asp508Asn)
c.1519G>A (p.Asp507Asn)
c.*643G>A (n.*643G>A)
c.*1178G>A (n.*1178G>A)
c.1731G>A (n.1731G>A)
c.1351G>A (p.Asp451Asn)
c.1399G>A (p.Asp467Asn)
c.1495G>A (p.Asp499Asn)
c.1441G>A (p.Asp481Asn)
c.1402G>A (p.Asp468Asn)
 dbSNP gnomAD v4
18g.33738923G>CCA402175752ASXL3c.1522G>C (p.Asp508His)
c.1519G>C (p.Asp507His)
c.*643G>C (n.*643G>C)
c.*1178G>C (n.*1178G>C)
c.1731G>C (n.1731G>C)
c.1351G>C (p.Asp451His)
c.1399G>C (p.Asp467His)
c.1495G>C (p.Asp499His)
c.1441G>C (p.Asp481His)
c.1402G>C (p.Asp468His)
 ClinVar gnomAD v4
18g.33738923G=CA2294855745ASXL3c.1522G= (p.Asp508=)
c.1519G= (p.Asp507=)
c.*643G= (n.*643G=)
c.*1178G= (n.*1178G=)
c.1731G= (n.1731G=)
c.1351G= (p.Asp451=)
c.1399G= (p.Asp467=)
c.1495G= (p.Asp499=)
c.1441G= (p.Asp481=)
c.1402G= (p.Asp468=)
18g.33738923G>TCA402175753ASXL3c.1522G>T (p.Asp508Tyr)
c.1519G>T (p.Asp507Tyr)
c.*643G>T (n.*643G>T)
c.*1178G>T (n.*1178G>T)
c.1731G>T (n.1731G>T)
c.1351G>T (p.Asp451Tyr)
c.1399G>T (p.Asp467Tyr)
c.1495G>T (p.Asp499Tyr)
c.1441G>T (p.Asp481Tyr)
c.1402G>T (p.Asp468Tyr)
 COSMIC COSMIC
18g.33738924A>CCA402175754ASXL3c.1523A>C (p.Asp508Ala)
c.1520A>C (p.Asp507Ala)
c.*644A>C (n.*644A>C)
c.*1179A>C (n.*1179A>C)
c.1732A>C (n.1732A>C)
c.1352A>C (p.Asp451Ala)
c.1400A>C (p.Asp467Ala)
c.1496A>C (p.Asp499Ala)
c.1442A>C (p.Asp481Ala)
c.1403A>C (p.Asp468Ala)
18g.33738924A>GCA402175755ASXL3c.1523A>G (p.Asp508Gly)
c.1520A>G (p.Asp507Gly)
c.*644A>G (n.*644A>G)
c.*1179A>G (n.*1179A>G)
c.1732A>G (n.1732A>G)
c.1352A>G (p.Asp451Gly)
c.1400A>G (p.Asp467Gly)
c.1496A>G (p.Asp499Gly)
c.1442A>G (p.Asp481Gly)
c.1403A>G (p.Asp468Gly)
18g.33738924A>TCA402175756ASXL3c.1523A>T (p.Asp508Val)
c.1520A>T (p.Asp507Val)
c.*644A>T (n.*644A>T)
c.*1179A>T (n.*1179A>T)
c.1732A>T (n.1732A>T)
c.1352A>T (p.Asp451Val)
c.1400A>T (p.Asp467Val)
c.1496A>T (p.Asp499Val)
c.1442A>T (p.Asp481Val)
c.1403A>T (p.Asp468Val)
18g.33738925T>ACA402175757ASXL3c.1524T>A (p.Asp508Glu)
c.1521T>A (p.Asp507Glu)
c.*645T>A (n.*645T>A)
c.*1180T>A (n.*1180T>A)
c.1733T>A (n.1733T>A)
c.1353T>A (p.Asp451Glu)
c.1401T>A (p.Asp467Glu)
c.1497T>A (p.Asp499Glu)
c.1443T>A (p.Asp481Glu)
c.1404T>A (p.Asp468Glu)
18g.33738925T>CCA503768428ASXL3c.1524T>C (p.Asp508=)
c.1521T>C (p.Asp507=)
c.*645T>C (n.*645T>C)
c.*1180T>C (n.*1180T>C)
c.1733T>C (n.1733T>C)
c.1353T>C (p.Asp451=)
c.1401T>C (p.Asp467=)
c.1497T>C (p.Asp499=)
c.1443T>C (p.Asp481=)
c.1404T>C (p.Asp468=)
 gnomAD v4
18g.33738925T>GCA402175758ASXL3c.1524T>G (p.Asp508Glu)
c.1521T>G (p.Asp507Glu)
c.*645T>G (n.*645T>G)
c.*1180T>G (n.*1180T>G)
c.1733T>G (n.1733T>G)
c.1353T>G (p.Asp451Glu)
c.1401T>G (p.Asp467Glu)
c.1497T>G (p.Asp499Glu)
c.1443T>G (p.Asp481Glu)
c.1404T>G (p.Asp468Glu)
18g.33738926G>ACA402175759ASXL3c.1525G>A (p.Val509Ile)
c.1522G>A (p.Val508Ile)
c.*646G>A (n.*646G>A)
c.*1181G>A (n.*1181G>A)
c.1734G>A (n.1734G>A)
c.1354G>A (p.Val452Ile)
c.1402G>A (p.Val468Ile)
c.1498G>A (p.Val500Ile)
c.1444G>A (p.Val482Ile)
c.1405G>A (p.Val469Ile)
 gnomAD v4
18g.33738926G>CCA402175760ASXL3c.1525G>C (p.Val509Leu)
c.1522G>C (p.Val508Leu)
c.*646G>C (n.*646G>C)
c.*1181G>C (n.*1181G>C)
c.1734G>C (n.1734G>C)
c.1354G>C (p.Val452Leu)
c.1402G>C (p.Val468Leu)
c.1498G>C (p.Val500Leu)
c.1444G>C (p.Val482Leu)
c.1405G>C (p.Val469Leu)
18g.33738926G>TCA402175761ASXL3c.1525G>T (p.Val509Phe)
c.1522G>T (p.Val508Phe)
c.*646G>T (n.*646G>T)
c.*1181G>T (n.*1181G>T)
c.1734G>T (n.1734G>T)
c.1354G>T (p.Val452Phe)
c.1402G>T (p.Val468Phe)
c.1498G>T (p.Val500Phe)
c.1444G>T (p.Val482Phe)
c.1405G>T (p.Val469Phe)
18g.33738927T>ACA402175762ASXL3c.1526T>A (p.Val509Asp)
c.1523T>A (p.Val508Asp)
c.*647T>A (n.*647T>A)
c.*1182T>A (n.*1182T>A)
c.1735T>A (n.1735T>A)
c.1355T>A (p.Val452Asp)
c.1403T>A (p.Val468Asp)
c.1499T>A (p.Val500Asp)
c.1445T>A (p.Val482Asp)
c.1406T>A (p.Val469Asp)
18g.33738927T>CCA402175763ASXL3c.1526T>C (p.Val509Ala)
c.1523T>C (p.Val508Ala)
c.*647T>C (n.*647T>C)
c.*1182T>C (n.*1182T>C)
c.1735T>C (n.1735T>C)
c.1355T>C (p.Val452Ala)
c.1403T>C (p.Val468Ala)
c.1499T>C (p.Val500Ala)
c.1445T>C (p.Val482Ala)
c.1406T>C (p.Val469Ala)
18g.33738927T>GCA402175764ASXL3c.1526T>G (p.Val509Gly)
c.1523T>G (p.Val508Gly)
c.*647T>G (n.*647T>G)
c.*1182T>G (n.*1182T>G)
c.1735T>G (n.1735T>G)
c.1355T>G (p.Val452Gly)
c.1403T>G (p.Val468Gly)
c.1499T>G (p.Val500Gly)
c.1445T>G (p.Val482Gly)
c.1406T>G (p.Val469Gly)
18g.33738928T>ACA503768430ASXL3c.1527T>A (p.Val509=)
c.1524T>A (p.Val508=)
c.*648T>A (n.*648T>A)
c.*1183T>A (n.*1183T>A)
c.1736T>A (n.1736T>A)
c.1356T>A (p.Val452=)
c.1404T>A (p.Val468=)
c.1500T>A (p.Val500=)
c.1446T>A (p.Val482=)
c.1407T>A (p.Val469=)
18g.33738928T>CCA503768431ASXL3c.1527T>C (p.Val509=)
c.1524T>C (p.Val508=)
c.*648T>C (n.*648T>C)
c.*1183T>C (n.*1183T>C)
c.1736T>C (n.1736T>C)
c.1356T>C (p.Val452=)
c.1404T>C (p.Val468=)
c.1500T>C (p.Val500=)
c.1446T>C (p.Val482=)
c.1407T>C (p.Val469=)
18g.33738928T>GCA503768432ASXL3c.1527T>G (p.Val509=)
c.1524T>G (p.Val508=)
c.*648T>G (n.*648T>G)
c.*1183T>G (n.*1183T>G)
c.1736T>G (n.1736T>G)
c.1356T>G (p.Val452=)
c.1404T>G (p.Val468=)
c.1500T>G (p.Val500=)
c.1446T>G (p.Val482=)
c.1407T>G (p.Val469=)
18g.33738929T>ACA402175766ASXL3c.1528T>A (p.Leu510Ile)
c.1525T>A (p.Leu509Ile)
c.*649T>A (n.*649T>A)
c.*1184T>A (n.*1184T>A)
c.1737T>A (n.1737T>A)
c.1357T>A (p.Leu453Ile)
c.1405T>A (p.Leu469Ile)
c.1501T>A (p.Leu501Ile)
c.1447T>A (p.Leu483Ile)
c.1408T>A (p.Leu470Ile)
18g.33738929T>CCA503768433ASXL3c.1528T>C (p.Leu510=)
c.1525T>C (p.Leu509=)
c.*649T>C (n.*649T>C)
c.*1184T>C (n.*1184T>C)
c.1737T>C (n.1737T>C)
c.1357T>C (p.Leu453=)
c.1405T>C (p.Leu469=)
c.1501T>C (p.Leu501=)
c.1447T>C (p.Leu483=)
c.1408T>C (p.Leu470=)
 dbSNP
18g.33738929T>GCA402175765ASXL3c.1528T>G (p.Leu510Val)
c.1525T>G (p.Leu509Val)
c.*649T>G (n.*649T>G)
c.*1184T>G (n.*1184T>G)
c.1737T>G (n.1737T>G)
c.1357T>G (p.Leu453Val)
c.1405T>G (p.Leu469Val)
c.1501T>G (p.Leu501Val)
c.1447T>G (p.Leu483Val)
c.1408T>G (p.Leu470Val)
18g.33738930T>ACA402175767ASXL3c.1529T>A (p.Leu510Ter)
c.1526T>A (p.Leu509Ter)
c.*650T>A (n.*650T>A)
c.*1185T>A (n.*1185T>A)
c.1738T>A (n.1738T>A)
c.1358T>A (p.Leu453Ter)
c.1406T>A (p.Leu469Ter)
c.1502T>A (p.Leu501Ter)
c.1448T>A (p.Leu483Ter)
c.1409T>A (p.Leu470Ter)
18g.33738930T>CCA402175768ASXL3c.1529T>C (p.Leu510Ser)
c.1526T>C (p.Leu509Ser)
c.*650T>C (n.*650T>C)
c.*1185T>C (n.*1185T>C)
c.1738T>C (n.1738T>C)
c.1358T>C (p.Leu453Ser)
c.1406T>C (p.Leu469Ser)
c.1502T>C (p.Leu501Ser)
c.1448T>C (p.Leu483Ser)
c.1409T>C (p.Leu470Ser)
18g.33738930T>GCA402175769ASXL3c.1529T>G (p.Leu510Ter)
c.1526T>G (p.Leu509Ter)
c.*650T>G (n.*650T>G)
c.*1185T>G (n.*1185T>G)
c.1738T>G (n.1738T>G)
c.1358T>G (p.Leu453Ter)
c.1406T>G (p.Leu469Ter)
c.1502T>G (p.Leu501Ter)
c.1448T>G (p.Leu483Ter)
c.1409T>G (p.Leu470Ter)
18g.33738930T=CA2294855746ASXL3c.1529T= (p.Leu510=)
c.1526T= (p.Leu509=)
c.*650T= (n.*650T=)
c.*1185T= (n.*1185T=)
c.1738T= (n.1738T=)
c.1358T= (p.Leu453=)
c.1406T= (p.Leu469=)
c.1502T= (p.Leu501=)
c.1448T= (p.Leu483=)
c.1409T= (p.Leu470=)
18g.33738931A>CCA402175770ASXL3c.1530A>C (p.Leu510Phe)
c.1527A>C (p.Leu509Phe)
c.*651A>C (n.*651A>C)
c.*1186A>C (n.*1186A>C)
c.1739A>C (n.1739A>C)
c.1359A>C (p.Leu453Phe)
c.1407A>C (p.Leu469Phe)
c.1503A>C (p.Leu501Phe)
c.1449A>C (p.Leu483Phe)
c.1410A>C (p.Leu470Phe)
 gnomAD v4
18g.33738931A>GCA503768434ASXL3c.1530A>G (p.Leu510=)
c.1527A>G (p.Leu509=)
c.*651A>G (n.*651A>G)
c.*1186A>G (n.*1186A>G)
c.1739A>G (n.1739A>G)
c.1359A>G (p.Leu453=)
c.1407A>G (p.Leu469=)
c.1503A>G (p.Leu501=)
c.1449A>G (p.Leu483=)
c.1410A>G (p.Leu470=)
18g.33738931A>TCA402175771ASXL3c.1530A>T (p.Leu510Phe)
c.1527A>T (p.Leu509Phe)
c.*651A>T (n.*651A>T)
c.*1186A>T (n.*1186A>T)
c.1739A>T (n.1739A>T)
c.1359A>T (p.Leu453Phe)
c.1407A>T (p.Leu469Phe)
c.1503A>T (p.Leu501Phe)
c.1449A>T (p.Leu483Phe)
c.1410A>T (p.Leu470Phe)
18g.33738935_33738976dupCA629454084ASXL3c.1534_1575dup (p.Glu525_Ser526insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1531_1572dup (p.Glu524_Ser525insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.*655_*696dup (n.*655_*696dup)
c.*1190_*1231dup (n.*1190_*1231dup)
c.1743_1784dup (n.1743_1784dup)
c.1363_1404dup (p.Glu468_Ser469insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1411_1452dup (p.Glu484_Ser485insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1507_1548dup (p.Glu516_Ser517insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1453_1494dup (p.Glu498_Ser499insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1414_1455dup (p.Glu485_Ser486insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched