Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744117A>CCA503770381ASXL3c.4272A>C (p.Ile1424=)
c.4269A>C (p.Ile1423=)
c.4149A>C (p.Ile1383=)
c.4245A>C (p.Ile1415=)
c.4191A>C (p.Ile1397=)
c.4152A>C (p.Ile1384=)
c.4101A>C (p.Ile1367=)
c.1233A>C (p.Ile411=)
18g.33744117A>GCA402190554ASXL3c.4272A>G (p.Ile1424Met)
c.4269A>G (p.Ile1423Met)
c.4149A>G (p.Ile1383Met)
c.4245A>G (p.Ile1415Met)
c.4191A>G (p.Ile1397Met)
c.4152A>G (p.Ile1384Met)
c.4101A>G (p.Ile1367Met)
c.1233A>G (p.Ile411Met)
18g.33744117A>TCA503770384ASXL3c.4272A>T (p.Ile1424=)
c.4269A>T (p.Ile1423=)
c.4149A>T (p.Ile1383=)
c.4245A>T (p.Ile1415=)
c.4191A>T (p.Ile1397=)
c.4152A>T (p.Ile1384=)
c.4101A>T (p.Ile1367=)
c.1233A>T (p.Ile411=)
18g.33744118A>CCA402190555ASXL3c.4273A>C (p.Asn1425His)
c.4270A>C (p.Asn1424His)
c.4150A>C (p.Asn1384His)
c.4246A>C (p.Asn1416His)
c.4192A>C (p.Asn1398His)
c.4153A>C (p.Asn1385His)
c.4102A>C (p.Asn1368His)
c.1234A>C (p.Asn412His)
18g.33744118A>GCA402190556ASXL3c.4273A>G (p.Asn1425Asp)
c.4270A>G (p.Asn1424Asp)
c.4150A>G (p.Asn1384Asp)
c.4246A>G (p.Asn1416Asp)
c.4192A>G (p.Asn1398Asp)
c.4153A>G (p.Asn1385Asp)
c.4102A>G (p.Asn1368Asp)
c.1234A>G (p.Asn412Asp)
18g.33744118A>TCA402190557ASXL3c.4273A>T (p.Asn1425Tyr)
c.4270A>T (p.Asn1424Tyr)
c.4150A>T (p.Asn1384Tyr)
c.4246A>T (p.Asn1416Tyr)
c.4192A>T (p.Asn1398Tyr)
c.4153A>T (p.Asn1385Tyr)
c.4102A>T (p.Asn1368Tyr)
c.1234A>T (p.Asn412Tyr)
 gnomAD v4
18g.33744119A>CCA402190558ASXL3c.4274A>C (p.Asn1425Thr)
c.4271A>C (p.Asn1424Thr)
c.4151A>C (p.Asn1384Thr)
c.4247A>C (p.Asn1416Thr)
c.4193A>C (p.Asn1398Thr)
c.4154A>C (p.Asn1385Thr)
c.4103A>C (p.Asn1368Thr)
c.1235A>C (p.Asn412Thr)
18g.33744119A>GCA402190559ASXL3c.4274A>G (p.Asn1425Ser)
c.4271A>G (p.Asn1424Ser)
c.4151A>G (p.Asn1384Ser)
c.4247A>G (p.Asn1416Ser)
c.4193A>G (p.Asn1398Ser)
c.4154A>G (p.Asn1385Ser)
c.4103A>G (p.Asn1368Ser)
c.1235A>G (p.Asn412Ser)
18g.33744119A>TCA402190560ASXL3c.4274A>T (p.Asn1425Ile)
c.4271A>T (p.Asn1424Ile)
c.4151A>T (p.Asn1384Ile)
c.4247A>T (p.Asn1416Ile)
c.4193A>T (p.Asn1398Ile)
c.4154A>T (p.Asn1385Ile)
c.4103A>T (p.Asn1368Ile)
c.1235A>T (p.Asn412Ile)
 gnomAD v4
18g.33744120C>ACA8934221ASXL3c.4275C>A (p.Asn1425Lys)
c.4272C>A (p.Asn1424Lys)
c.4152C>A (p.Asn1384Lys)
c.4248C>A (p.Asn1416Lys)
c.4194C>A (p.Asn1398Lys)
c.4155C>A (p.Asn1385Lys)
c.4104C>A (p.Asn1368Lys)
c.1236C>A (p.Asn412Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.33744120C=CA2294858001ASXL3c.4275C= (p.Asn1425=)
c.4272C= (p.Asn1424=)
c.4152C= (p.Asn1384=)
c.4248C= (p.Asn1416=)
c.4194C= (p.Asn1398=)
c.4155C= (p.Asn1385=)
c.4104C= (p.Asn1368=)
c.1236C= (p.Asn412=)
18g.33744120C>GCA402190561ASXL3c.4275C>G (p.Asn1425Lys)
c.4272C>G (p.Asn1424Lys)
c.4152C>G (p.Asn1384Lys)
c.4248C>G (p.Asn1416Lys)
c.4194C>G (p.Asn1398Lys)
c.4155C>G (p.Asn1385Lys)
c.4104C>G (p.Asn1368Lys)
c.1236C>G (p.Asn412Lys)
18g.33744120C>TCA503770394ASXL3c.4275C>T (p.Asn1425=)
c.4272C>T (p.Asn1424=)
c.4152C>T (p.Asn1384=)
c.4248C>T (p.Asn1416=)
c.4194C>T (p.Asn1398=)
c.4155C>T (p.Asn1385=)
c.4104C>T (p.Asn1368=)
c.1236C>T (p.Asn412=)
 dbSNP
18g.33744121T>ACA402190562ASXL3c.4276T>A (p.Ser1426Thr)
c.4273T>A (p.Ser1425Thr)
c.4153T>A (p.Ser1385Thr)
c.4249T>A (p.Ser1417Thr)
c.4195T>A (p.Ser1399Thr)
c.4156T>A (p.Ser1386Thr)
c.4105T>A (p.Ser1369Thr)
c.1237T>A (p.Ser413Thr)
18g.33744121T>CCA8934222ASXL3c.4276T>C (p.Ser1426Pro)
c.4273T>C (p.Ser1425Pro)
c.4153T>C (p.Ser1385Pro)
c.4249T>C (p.Ser1417Pro)
c.4195T>C (p.Ser1399Pro)
c.4156T>C (p.Ser1386Pro)
c.4105T>C (p.Ser1369Pro)
c.1237T>C (p.Ser413Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744121T>GCA402190563ASXL3c.4276T>G (p.Ser1426Ala)
c.4273T>G (p.Ser1425Ala)
c.4153T>G (p.Ser1385Ala)
c.4249T>G (p.Ser1417Ala)
c.4195T>G (p.Ser1399Ala)
c.4156T>G (p.Ser1386Ala)
c.4105T>G (p.Ser1369Ala)
c.1237T>G (p.Ser413Ala)
18g.33744121T=CA2294858002ASXL3c.4276T= (p.Ser1426=)
c.4273T= (p.Ser1425=)
c.4153T= (p.Ser1385=)
c.4249T= (p.Ser1417=)
c.4195T= (p.Ser1399=)
c.4156T= (p.Ser1386=)
c.4105T= (p.Ser1369=)
c.1237T= (p.Ser413=)
18g.33744122C>ACA402190565ASXL3c.4277C>A (p.Ser1426Tyr)
c.4274C>A (p.Ser1425Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4250C>A (p.Ser1417Tyr)
c.4196C>A (p.Ser1399Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4106C>A (p.Ser1369Tyr)
c.1238C>A (p.Ser413Tyr)
18g.33744122C=CA2294858003ASXL3c.4277C= (p.Ser1426=)
c.4274C= (p.Ser1425=)
c.4154C= (p.Ser1385=)
c.4250C= (p.Ser1417=)
c.4196C= (p.Ser1399=)
c.4157C= (p.Ser1386=)
c.4106C= (p.Ser1369=)
c.1238C= (p.Ser413=)
18g.33744122C>GCA8934223ASXL3c.4277C>G (p.Ser1426Cys)
c.4274C>G (p.Ser1425Cys)
c.4154C>G (p.Ser1385Cys)
c.4250C>G (p.Ser1417Cys)
c.4196C>G (p.Ser1399Cys)
c.4157C>G (p.Ser1386Cys)
c.4106C>G (p.Ser1369Cys)
c.1238C>G (p.Ser413Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744122C>TCA402190564ASXL3c.4277C>T (p.Ser1426Phe)
c.4274C>T (p.Ser1425Phe)
c.4154C>T (p.Ser1385Phe)
c.4250C>T (p.Ser1417Phe)
c.4196C>T (p.Ser1399Phe)
c.4157C>T (p.Ser1386Phe)
c.4106C>T (p.Ser1369Phe)
c.1238C>T (p.Ser413Phe)
18g.33744123T>ACA503770401ASXL3c.4278T>A (p.Ser1426=)
c.4275T>A (p.Ser1425=)
c.4155T>A (p.Ser1385=)
c.4251T>A (p.Ser1417=)
c.4197T>A (p.Ser1399=)
c.4158T>A (p.Ser1386=)
c.4107T>A (p.Ser1369=)
c.1239T>A (p.Ser413=)
18g.33744123T>CCA8934224ASXL3c.4278T>C (p.Ser1426=)
c.4275T>C (p.Ser1425=)
c.4155T>C (p.Ser1385=)
c.4251T>C (p.Ser1417=)
c.4197T>C (p.Ser1399=)
c.4158T>C (p.Ser1386=)
c.4107T>C (p.Ser1369=)
c.1239T>C (p.Ser413=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744123T>GCA503770402ASXL3c.4278T>G (p.Ser1426=)
c.4275T>G (p.Ser1425=)
c.4155T>G (p.Ser1385=)
c.4251T>G (p.Ser1417=)
c.4197T>G (p.Ser1399=)
c.4158T>G (p.Ser1386=)
c.4107T>G (p.Ser1369=)
c.1239T>G (p.Ser413=)
18g.33744123T=CA2294858004ASXL3c.4278T= (p.Ser1426=)
c.4275T= (p.Ser1425=)
c.4155T= (p.Ser1385=)
c.4251T= (p.Ser1417=)
c.4197T= (p.Ser1399=)
c.4158T= (p.Ser1386=)
c.4107T= (p.Ser1369=)
c.1239T= (p.Ser413=)
18g.33744124T>ACA402190566ASXL3c.4279T>A (p.Tyr1427Asn)
c.4276T>A (p.Tyr1426Asn)
c.4156T>A (p.Tyr1386Asn)
c.4252T>A (p.Tyr1418Asn)
c.4198T>A (p.Tyr1400Asn)
c.4159T>A (p.Tyr1387Asn)
c.4108T>A (p.Tyr1370Asn)
c.1240T>A (p.Tyr414Asn)
 gnomAD v4
18g.33744124T>CCA402190567ASXL3c.4279T>C (p.Tyr1427His)
c.4276T>C (p.Tyr1426His)
c.4156T>C (p.Tyr1386His)
c.4252T>C (p.Tyr1418His)
c.4198T>C (p.Tyr1400His)
c.4159T>C (p.Tyr1387His)
c.4108T>C (p.Tyr1370His)
c.1240T>C (p.Tyr414His)
18g.33744124T>GCA402190568ASXL3c.4279T>G (p.Tyr1427Asp)
c.4276T>G (p.Tyr1426Asp)
c.4156T>G (p.Tyr1386Asp)
c.4252T>G (p.Tyr1418Asp)
c.4198T>G (p.Tyr1400Asp)
c.4159T>G (p.Tyr1387Asp)
c.4108T>G (p.Tyr1370Asp)
c.1240T>G (p.Tyr414Asp)
18g.33744124T=CA2294858005ASXL3c.4279T= (p.Tyr1427=)
c.4276T= (p.Tyr1426=)
c.4156T= (p.Tyr1386=)
c.4252T= (p.Tyr1418=)
c.4198T= (p.Tyr1400=)
c.4159T= (p.Tyr1387=)
c.4108T= (p.Tyr1370=)
c.1240T= (p.Tyr414=)
18g.33744125A>CCA402190569ASXL3c.4280A>C (p.Tyr1427Ser)
c.4277A>C (p.Tyr1426Ser)
c.4157A>C (p.Tyr1386Ser)
c.4253A>C (p.Tyr1418Ser)
c.4199A>C (p.Tyr1400Ser)
c.4160A>C (p.Tyr1387Ser)
c.4109A>C (p.Tyr1370Ser)
c.1241A>C (p.Tyr414Ser)
18g.33744125A>GCA402190570ASXL3c.4280A>G (p.Tyr1427Cys)
c.4277A>G (p.Tyr1426Cys)
c.4157A>G (p.Tyr1386Cys)
c.4253A>G (p.Tyr1418Cys)
c.4199A>G (p.Tyr1400Cys)
c.4160A>G (p.Tyr1387Cys)
c.4109A>G (p.Tyr1370Cys)
c.1241A>G (p.Tyr414Cys)
18g.33744125A>TCA402190571ASXL3c.4280A>T (p.Tyr1427Phe)
c.4277A>T (p.Tyr1426Phe)
c.4157A>T (p.Tyr1386Phe)
c.4253A>T (p.Tyr1418Phe)
c.4199A>T (p.Tyr1400Phe)
c.4160A>T (p.Tyr1387Phe)
c.4109A>T (p.Tyr1370Phe)
c.1241A>T (p.Tyr414Phe)
18g.33744125dupCA629454137ASXL3c.4280dup (p.Tyr1427Ter)
c.4277dup (p.Tyr1426Ter)
c.4157dup (p.Tyr1386Ter)
c.4253dup (p.Tyr1418Ter)
c.4199dup (p.Tyr1400Ter)
c.4160dup (p.Tyr1387Ter)
c.4109dup (p.Tyr1370Ter)
c.1241dup (p.Tyr414Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744126T>ACA402190572ASXL3c.4281T>A (p.Tyr1427Ter)
c.4278T>A (p.Tyr1426Ter)
c.4158T>A (p.Tyr1386Ter)
c.4254T>A (p.Tyr1418Ter)
c.4200T>A (p.Tyr1400Ter)
c.4161T>A (p.Tyr1387Ter)
c.4110T>A (p.Tyr1370Ter)
c.1242T>A (p.Tyr414Ter)
18g.33744126T>CCA503770411ASXL3c.4281T>C (p.Tyr1427=)
c.4278T>C (p.Tyr1426=)
c.4158T>C (p.Tyr1386=)
c.4254T>C (p.Tyr1418=)
c.4200T>C (p.Tyr1400=)
c.4161T>C (p.Tyr1387=)
c.4110T>C (p.Tyr1370=)
c.1242T>C (p.Tyr414=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744126T>GCA402190573ASXL3c.4281T>G (p.Tyr1427Ter)
c.4278T>G (p.Tyr1426Ter)
c.4158T>G (p.Tyr1386Ter)
c.4254T>G (p.Tyr1418Ter)
c.4200T>G (p.Tyr1400Ter)
c.4161T>G (p.Tyr1387Ter)
c.4110T>G (p.Tyr1370Ter)
c.1242T>G (p.Tyr414Ter)
18g.33744126T=CA2294858006ASXL3c.4281T= (p.Tyr1427=)
c.4278T= (p.Tyr1426=)
c.4158T= (p.Tyr1386=)
c.4254T= (p.Tyr1418=)
c.4200T= (p.Tyr1400=)
c.4161T= (p.Tyr1387=)
c.4110T= (p.Tyr1370=)
c.1242T= (p.Tyr414=)
18g.33744127G>ACA8934225ASXL3c.4282G>A (p.Asp1428Asn)
c.4279G>A (p.Asp1427Asn)
c.4159G>A (p.Asp1387Asn)
c.4255G>A (p.Asp1419Asn)
c.4201G>A (p.Asp1401Asn)
c.4162G>A (p.Asp1388Asn)
c.4111G>A (p.Asp1371Asn)
c.1243G>A (p.Asp415Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744127G>CCA402190574ASXL3c.4282G>C (p.Asp1428His)
c.4279G>C (p.Asp1427His)
c.4159G>C (p.Asp1387His)
c.4255G>C (p.Asp1419His)
c.4201G>C (p.Asp1401His)
c.4162G>C (p.Asp1388His)
c.4111G>C (p.Asp1371His)
c.1243G>C (p.Asp415His)
18g.33744127G=CA2294858007ASXL3c.4282G= (p.Asp1428=)
c.4279G= (p.Asp1427=)
c.4159G= (p.Asp1387=)
c.4255G= (p.Asp1419=)
c.4201G= (p.Asp1401=)
c.4162G= (p.Asp1388=)
c.4111G= (p.Asp1371=)
c.1243G= (p.Asp415=)
18g.33744127G>TCA402190575ASXL3c.4282G>T (p.Asp1428Tyr)
c.4279G>T (p.Asp1427Tyr)
c.4159G>T (p.Asp1387Tyr)
c.4255G>T (p.Asp1419Tyr)
c.4201G>T (p.Asp1401Tyr)
c.4162G>T (p.Asp1388Tyr)
c.4111G>T (p.Asp1371Tyr)
c.1243G>T (p.Asp415Tyr)
18g.33744128A>CCA402190577ASXL3c.4283A>C (p.Asp1428Ala)
c.4280A>C (p.Asp1427Ala)
c.4160A>C (p.Asp1387Ala)
c.4256A>C (p.Asp1419Ala)
c.4202A>C (p.Asp1401Ala)
c.4163A>C (p.Asp1388Ala)
c.4112A>C (p.Asp1371Ala)
c.1244A>C (p.Asp415Ala)
 gnomAD v4
18g.33744128A>GCA402190578ASXL3c.4283A>G (p.Asp1428Gly)
c.4280A>G (p.Asp1427Gly)
c.4160A>G (p.Asp1387Gly)
c.4256A>G (p.Asp1419Gly)
c.4202A>G (p.Asp1401Gly)
c.4163A>G (p.Asp1388Gly)
c.4112A>G (p.Asp1371Gly)
c.1244A>G (p.Asp415Gly)
 gnomAD v4
18g.33744128A>TCA402190576ASXL3c.4283A>T (p.Asp1428Val)
c.4280A>T (p.Asp1427Val)
c.4160A>T (p.Asp1387Val)
c.4256A>T (p.Asp1419Val)
c.4202A>T (p.Asp1401Val)
c.4163A>T (p.Asp1388Val)
c.4112A>T (p.Asp1371Val)
c.1244A>T (p.Asp415Val)
18g.33744129T>ACA402190579ASXL3c.4284T>A (p.Asp1428Glu)
c.4281T>A (p.Asp1427Glu)
c.4161T>A (p.Asp1387Glu)
c.4257T>A (p.Asp1419Glu)
c.4203T>A (p.Asp1401Glu)
c.4164T>A (p.Asp1388Glu)
c.4113T>A (p.Asp1371Glu)
c.1245T>A (p.Asp415Glu)
18g.33744129T>CCA503770414ASXL3c.4284T>C (p.Asp1428=)
c.4281T>C (p.Asp1427=)
c.4161T>C (p.Asp1387=)
c.4257T>C (p.Asp1419=)
c.4203T>C (p.Asp1401=)
c.4164T>C (p.Asp1388=)
c.4113T>C (p.Asp1371=)
c.1245T>C (p.Asp415=)
 gnomAD v4
18g.33744129T>GCA402190580ASXL3c.4284T>G (p.Asp1428Glu)
c.4281T>G (p.Asp1427Glu)
c.4161T>G (p.Asp1387Glu)
c.4257T>G (p.Asp1419Glu)
c.4203T>G (p.Asp1401Glu)
c.4164T>G (p.Asp1388Glu)
c.4113T>G (p.Asp1371Glu)
c.1245T>G (p.Asp415Glu)
18g.33744130A=CA2294858008ASXL3c.4285A= (p.Ser1429=)
c.4282A= (p.Ser1428=)
c.4162A= (p.Ser1388=)
c.4258A= (p.Ser1420=)
c.4204A= (p.Ser1402=)
c.4165A= (p.Ser1389=)
c.4114A= (p.Ser1372=)
c.1246A= (p.Ser416=)
18g.33744130A>CCA402190581ASXL3c.4285A>C (p.Ser1429Arg)
c.4282A>C (p.Ser1428Arg)
c.4162A>C (p.Ser1388Arg)
c.4258A>C (p.Ser1420Arg)
c.4204A>C (p.Ser1402Arg)
c.4165A>C (p.Ser1389Arg)
c.4114A>C (p.Ser1372Arg)
c.1246A>C (p.Ser416Arg)
18g.33744130A>GCA8934226ASXL3c.4285A>G (p.Ser1429Gly)
c.4282A>G (p.Ser1428Gly)
c.4162A>G (p.Ser1388Gly)
c.4258A>G (p.Ser1420Gly)
c.4204A>G (p.Ser1402Gly)
c.4165A>G (p.Ser1389Gly)
c.4114A>G (p.Ser1372Gly)
c.1246A>G (p.Ser416Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744130A>TCA402190582ASXL3c.4285A>T (p.Ser1429Cys)
c.4282A>T (p.Ser1428Cys)
c.4162A>T (p.Ser1388Cys)
c.4258A>T (p.Ser1420Cys)
c.4204A>T (p.Ser1402Cys)
c.4165A>T (p.Ser1389Cys)
c.4114A>T (p.Ser1372Cys)
c.1246A>T (p.Ser416Cys)
18g.33744131G>ACA8934227ASXL3c.4286G>A (p.Ser1429Asn)
c.4283G>A (p.Ser1428Asn)
c.4163G>A (p.Ser1388Asn)
c.4259G>A (p.Ser1420Asn)
c.4205G>A (p.Ser1402Asn)
c.4166G>A (p.Ser1389Asn)
c.4115G>A (p.Ser1372Asn)
c.1247G>A (p.Ser416Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744131G>CCA402190583ASXL3c.4286G>C (p.Ser1429Thr)
c.4283G>C (p.Ser1428Thr)
c.4163G>C (p.Ser1388Thr)
c.4259G>C (p.Ser1420Thr)
c.4205G>C (p.Ser1402Thr)
c.4166G>C (p.Ser1389Thr)
c.4115G>C (p.Ser1372Thr)
c.1247G>C (p.Ser416Thr)
18g.33744131G=CA2294858009ASXL3c.4286G= (p.Ser1429=)
c.4283G= (p.Ser1428=)
c.4163G= (p.Ser1388=)
c.4259G= (p.Ser1420=)
c.4205G= (p.Ser1402=)
c.4166G= (p.Ser1389=)
c.4115G= (p.Ser1372=)
c.1247G= (p.Ser416=)
18g.33744131G>TCA8934228ASXL3c.4286G>T (p.Ser1429Ile)
c.4283G>T (p.Ser1428Ile)
c.4163G>T (p.Ser1388Ile)
c.4259G>T (p.Ser1420Ile)
c.4205G>T (p.Ser1402Ile)
c.4166G>T (p.Ser1389Ile)
c.4115G>T (p.Ser1372Ile)
c.1247G>T (p.Ser416Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744132T>ACA402190584ASXL3c.4287T>A (p.Ser1429Arg)
c.4284T>A (p.Ser1428Arg)
c.4164T>A (p.Ser1388Arg)
c.4260T>A (p.Ser1420Arg)
c.4206T>A (p.Ser1402Arg)
c.4167T>A (p.Ser1389Arg)
c.4116T>A (p.Ser1372Arg)
c.1248T>A (p.Ser416Arg)
18g.33744132T>CCA503770421ASXL3c.4287T>C (p.Ser1429=)
c.4284T>C (p.Ser1428=)
c.4164T>C (p.Ser1388=)
c.4260T>C (p.Ser1420=)
c.4206T>C (p.Ser1402=)
c.4167T>C (p.Ser1389=)
c.4116T>C (p.Ser1372=)
c.1248T>C (p.Ser416=)
18g.33744132T>GCA402190585ASXL3c.4287T>G (p.Ser1429Arg)
c.4284T>G (p.Ser1428Arg)
c.4164T>G (p.Ser1388Arg)
c.4260T>G (p.Ser1420Arg)
c.4206T>G (p.Ser1402Arg)
c.4167T>G (p.Ser1389Arg)
c.4116T>G (p.Ser1372Arg)
c.1248T>G (p.Ser416Arg)
18g.33744133C>ACA402190586ASXL3c.4288C>A (p.Pro1430Thr)
c.4285C>A (p.Pro1429Thr)
c.4165C>A (p.Pro1389Thr)
c.4261C>A (p.Pro1421Thr)
c.4207C>A (p.Pro1403Thr)
c.4168C>A (p.Pro1390Thr)
c.4117C>A (p.Pro1373Thr)
c.1249C>A (p.Pro417Thr)
 gnomAD v4 COSMIC
18g.33744133C=CA2294858010ASXL3c.4288C= (p.Pro1430=)
c.4285C= (p.Pro1429=)
c.4165C= (p.Pro1389=)
c.4261C= (p.Pro1421=)
c.4207C= (p.Pro1403=)
c.4168C= (p.Pro1390=)
c.4117C= (p.Pro1373=)
c.1249C= (p.Pro417=)
18g.33744133C>GCA402190587ASXL3c.4288C>G (p.Pro1430Ala)
c.4285C>G (p.Pro1429Ala)
c.4165C>G (p.Pro1389Ala)
c.4261C>G (p.Pro1421Ala)
c.4207C>G (p.Pro1403Ala)
c.4168C>G (p.Pro1390Ala)
c.4117C>G (p.Pro1373Ala)
c.1249C>G (p.Pro417Ala)
18g.33744133C>TCA8934229ASXL3c.4288C>T (p.Pro1430Ser)
c.4285C>T (p.Pro1429Ser)
c.4165C>T (p.Pro1389Ser)
c.4261C>T (p.Pro1421Ser)
c.4207C>T (p.Pro1403Ser)
c.4168C>T (p.Pro1390Ser)
c.4117C>T (p.Pro1373Ser)
c.1249C>T (p.Pro417Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744134C>ACA402190589ASXL3c.4289C>A (p.Pro1430His)
c.4286C>A (p.Pro1429His)
c.4166C>A (p.Pro1389His)
c.4262C>A (p.Pro1421His)
c.4208C>A (p.Pro1403His)
c.4169C>A (p.Pro1390His)
c.4118C>A (p.Pro1373His)
c.1250C>A (p.Pro417His)
18g.33744134C=CA2294858011ASXL3c.4289C= (p.Pro1430=)
c.4286C= (p.Pro1429=)
c.4166C= (p.Pro1389=)
c.4262C= (p.Pro1421=)
c.4208C= (p.Pro1403=)
c.4169C= (p.Pro1390=)
c.4118C= (p.Pro1373=)
c.1250C= (p.Pro417=)
18g.33744134C>GCA402190588ASXL3c.4289C>G (p.Pro1430Arg)
c.4286C>G (p.Pro1429Arg)
c.4166C>G (p.Pro1389Arg)
c.4262C>G (p.Pro1421Arg)
c.4208C>G (p.Pro1403Arg)
c.4169C>G (p.Pro1390Arg)
c.4118C>G (p.Pro1373Arg)
c.1250C>G (p.Pro417Arg)
18g.33744134C>TCA8934230ASXL3c.4289C>T (p.Pro1430Leu)
c.4286C>T (p.Pro1429Leu)
c.4166C>T (p.Pro1389Leu)
c.4262C>T (p.Pro1421Leu)
c.4208C>T (p.Pro1403Leu)
c.4169C>T (p.Pro1390Leu)
c.4118C>T (p.Pro1373Leu)
c.1250C>T (p.Pro417Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
18g.33744135T>ACA503770431ASXL3c.4290T>A (p.Pro1430=)
c.4287T>A (p.Pro1429=)
c.4167T>A (p.Pro1389=)
c.4263T>A (p.Pro1421=)
c.4209T>A (p.Pro1403=)
c.4170T>A (p.Pro1390=)
c.4119T>A (p.Pro1373=)
c.1251T>A (p.Pro417=)
18g.33744135T>CCA503770432ASXL3c.4290T>C (p.Pro1430=)
c.4287T>C (p.Pro1429=)
c.4167T>C (p.Pro1389=)
c.4263T>C (p.Pro1421=)
c.4209T>C (p.Pro1403=)
c.4170T>C (p.Pro1390=)
c.4119T>C (p.Pro1373=)
c.1251T>C (p.Pro417=)
18g.33744135T>GCA503770433ASXL3c.4290T>G (p.Pro1430=)
c.4287T>G (p.Pro1429=)
c.4167T>G (p.Pro1389=)
c.4263T>G (p.Pro1421=)
c.4209T>G (p.Pro1403=)
c.4170T>G (p.Pro1390=)
c.4119T>G (p.Pro1373=)
c.1251T>G (p.Pro417=)
18g.33744136C>ACA402190590ASXL3c.4291C>A (p.Pro1431Thr)
c.4288C>A (p.Pro1430Thr)
c.4168C>A (p.Pro1390Thr)
c.4264C>A (p.Pro1422Thr)
c.4210C>A (p.Pro1404Thr)
c.4171C>A (p.Pro1391Thr)
c.4120C>A (p.Pro1374Thr)
c.1252C>A (p.Pro418Thr)
18g.33744136C>GCA402190592ASXL3c.4291C>G (p.Pro1431Ala)
c.4288C>G (p.Pro1430Ala)
c.4168C>G (p.Pro1390Ala)
c.4264C>G (p.Pro1422Ala)
c.4210C>G (p.Pro1404Ala)
c.4171C>G (p.Pro1391Ala)
c.4120C>G (p.Pro1374Ala)
c.1252C>G (p.Pro418Ala)
18g.33744136C>TCA402190591ASXL3c.4291C>T (p.Pro1431Ser)
c.4288C>T (p.Pro1430Ser)
c.4168C>T (p.Pro1390Ser)
c.4264C>T (p.Pro1422Ser)
c.4210C>T (p.Pro1404Ser)
c.4171C>T (p.Pro1391Ser)
c.4120C>T (p.Pro1374Ser)
c.1252C>T (p.Pro418Ser)
18g.33744137C>ACA402190593ASXL3c.4292C>A (p.Pro1431His)
c.4289C>A (p.Pro1430His)
c.4169C>A (p.Pro1390His)
c.4265C>A (p.Pro1422His)
c.4211C>A (p.Pro1404His)
c.4172C>A (p.Pro1391His)
c.4121C>A (p.Pro1374His)
c.1253C>A (p.Pro418His)
18g.33744137C=CA2294858012ASXL3c.4292C= (p.Pro1431=)
c.4289C= (p.Pro1430=)
c.4169C= (p.Pro1390=)
c.4265C= (p.Pro1422=)
c.4211C= (p.Pro1404=)
c.4172C= (p.Pro1391=)
c.4121C= (p.Pro1374=)
c.1253C= (p.Pro418=)
18g.33744137C>GCA402190594ASXL3c.4292C>G (p.Pro1431Arg)
c.4289C>G (p.Pro1430Arg)
c.4169C>G (p.Pro1390Arg)
c.4265C>G (p.Pro1422Arg)
c.4211C>G (p.Pro1404Arg)
c.4172C>G (p.Pro1391Arg)
c.4121C>G (p.Pro1374Arg)
c.1253C>G (p.Pro418Arg)
18g.33744137C>TCA8934231ASXL3c.4292C>T (p.Pro1431Leu)
c.4289C>T (p.Pro1430Leu)
c.4169C>T (p.Pro1390Leu)
c.4265C>T (p.Pro1422Leu)
c.4211C>T (p.Pro1404Leu)
c.4172C>T (p.Pro1391Leu)
c.4121C>T (p.Pro1374Leu)
c.1253C>T (p.Pro418Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744138C>ACA503770444ASXL3c.4293C>A (p.Pro1431=)
c.4290C>A (p.Pro1430=)
c.4170C>A (p.Pro1390=)
c.4266C>A (p.Pro1422=)
c.4212C>A (p.Pro1404=)
c.4173C>A (p.Pro1391=)
c.4122C>A (p.Pro1374=)
c.1254C>A (p.Pro418=)
18g.33744138C=CA2294858013ASXL3c.4293C= (p.Pro1431=)
c.4290C= (p.Pro1430=)
c.4170C= (p.Pro1390=)
c.4266C= (p.Pro1422=)
c.4212C= (p.Pro1404=)
c.4173C= (p.Pro1391=)
c.4122C= (p.Pro1374=)
c.1254C= (p.Pro418=)
18g.33744138C>GCA503770446ASXL3c.4293C>G (p.Pro1431=)
c.4290C>G (p.Pro1430=)
c.4170C>G (p.Pro1390=)
c.4266C>G (p.Pro1422=)
c.4212C>G (p.Pro1404=)
c.4173C>G (p.Pro1391=)
c.4122C>G (p.Pro1374=)
c.1254C>G (p.Pro418=)
18g.33744138C>TCA8934232ASXL3c.4293C>T (p.Pro1431=)
c.4290C>T (p.Pro1430=)
c.4170C>T (p.Pro1390=)
c.4266C>T (p.Pro1422=)
c.4212C>T (p.Pro1404=)
c.4173C>T (p.Pro1391=)
c.4122C>T (p.Pro1374=)
c.1254C>T (p.Pro418=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744139A>CCA402190597ASXL3c.4294A>C (p.Lys1432Gln)
c.4291A>C (p.Lys1431Gln)
c.4171A>C (p.Lys1391Gln)
c.4267A>C (p.Lys1423Gln)
c.4213A>C (p.Lys1405Gln)
c.4174A>C (p.Lys1392Gln)
c.4123A>C (p.Lys1375Gln)
c.1255A>C (p.Lys419Gln)
 gnomAD v4
18g.33744139A>GCA402190595ASXL3c.4294A>G (p.Lys1432Glu)
c.4291A>G (p.Lys1431Glu)
c.4171A>G (p.Lys1391Glu)
c.4267A>G (p.Lys1423Glu)
c.4213A>G (p.Lys1405Glu)
c.4174A>G (p.Lys1392Glu)
c.4123A>G (p.Lys1375Glu)
c.1255A>G (p.Lys419Glu)
18g.33744139A>TCA402190596ASXL3c.4294A>T (p.Lys1432Ter)
c.4291A>T (p.Lys1431Ter)
c.4171A>T (p.Lys1391Ter)
c.4267A>T (p.Lys1423Ter)
c.4213A>T (p.Lys1405Ter)
c.4174A>T (p.Lys1392Ter)
c.4123A>T (p.Lys1375Ter)
c.1255A>T (p.Lys419Ter)
18g.33744140A>CCA402190598ASXL3c.4295A>C (p.Lys1432Thr)
c.4292A>C (p.Lys1431Thr)
c.4172A>C (p.Lys1391Thr)
c.4268A>C (p.Lys1423Thr)
c.4214A>C (p.Lys1405Thr)
c.4175A>C (p.Lys1392Thr)
c.4124A>C (p.Lys1375Thr)
c.1256A>C (p.Lys419Thr)
18g.33744140A>GCA402190599ASXL3c.4295A>G (p.Lys1432Arg)
c.4292A>G (p.Lys1431Arg)
c.4172A>G (p.Lys1391Arg)
c.4268A>G (p.Lys1423Arg)
c.4214A>G (p.Lys1405Arg)
c.4175A>G (p.Lys1392Arg)
c.4124A>G (p.Lys1375Arg)
c.1256A>G (p.Lys419Arg)
18g.33744140A>TCA402190600ASXL3c.4295A>T (p.Lys1432Met)
c.4292A>T (p.Lys1431Met)
c.4172A>T (p.Lys1391Met)
c.4268A>T (p.Lys1423Met)
c.4214A>T (p.Lys1405Met)
c.4175A>T (p.Lys1392Met)
c.4124A>T (p.Lys1375Met)
c.1256A>T (p.Lys419Met)
18g.33744141G>ACA8934233ASXL3c.4296G>A (p.Lys1432=)
c.4293G>A (p.Lys1431=)
c.4173G>A (p.Lys1391=)
c.4269G>A (p.Lys1423=)
c.4215G>A (p.Lys1405=)
c.4176G>A (p.Lys1392=)
c.4125G>A (p.Lys1375=)
c.1257G>A (p.Lys419=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744141G>CCA402190601ASXL3c.4296G>C (p.Lys1432Asn)
c.4293G>C (p.Lys1431Asn)
c.4173G>C (p.Lys1391Asn)
c.4269G>C (p.Lys1423Asn)
c.4215G>C (p.Lys1405Asn)
c.4176G>C (p.Lys1392Asn)
c.4125G>C (p.Lys1375Asn)
c.1257G>C (p.Lys419Asn)
18g.33744141G=CA2294858014ASXL3c.4296G= (p.Lys1432=)
c.4293G= (p.Lys1431=)
c.4173G= (p.Lys1391=)
c.4269G= (p.Lys1423=)
c.4215G= (p.Lys1405=)
c.4176G= (p.Lys1392=)
c.4125G= (p.Lys1375=)
c.1257G= (p.Lys419=)
18g.33744141G>TCA402190602ASXL3c.4296G>T (p.Lys1432Asn)
c.4293G>T (p.Lys1431Asn)
c.4173G>T (p.Lys1391Asn)
c.4269G>T (p.Lys1423Asn)
c.4215G>T (p.Lys1405Asn)
c.4176G>T (p.Lys1392Asn)
c.4125G>T (p.Lys1375Asn)
c.1257G>T (p.Lys419Asn)
18g.33744142T>ACA402190603ASXL3c.4297T>A (p.Leu1433Ile)
c.4294T>A (p.Leu1432Ile)
c.4174T>A (p.Leu1392Ile)
c.4270T>A (p.Leu1424Ile)
c.4216T>A (p.Leu1406Ile)
c.4177T>A (p.Leu1393Ile)
c.4126T>A (p.Leu1376Ile)
c.1258T>A (p.Leu420Ile)
18g.33744142T>CCA503770457ASXL3c.4297T>C (p.Leu1433=)
c.4294T>C (p.Leu1432=)
c.4174T>C (p.Leu1392=)
c.4270T>C (p.Leu1424=)
c.4216T>C (p.Leu1406=)
c.4177T>C (p.Leu1393=)
c.4126T>C (p.Leu1376=)
c.1258T>C (p.Leu420=)
18g.33744142T>GCA402190604ASXL3c.4297T>G (p.Leu1433Val)
c.4294T>G (p.Leu1432Val)
c.4174T>G (p.Leu1392Val)
c.4270T>G (p.Leu1424Val)
c.4216T>G (p.Leu1406Val)
c.4177T>G (p.Leu1393Val)
c.4126T>G (p.Leu1376Val)
c.1258T>G (p.Leu420Val)
18g.33744143T>ACA402190605ASXL3c.4298T>A (p.Leu1433Ter)
c.4295T>A (p.Leu1432Ter)
c.4175T>A (p.Leu1392Ter)
c.4271T>A (p.Leu1424Ter)
c.4217T>A (p.Leu1406Ter)
c.4178T>A (p.Leu1393Ter)
c.4127T>A (p.Leu1376Ter)
c.1259T>A (p.Leu420Ter)
18g.33744143T>CCA402190606ASXL3c.4298T>C (p.Leu1433Ser)
c.4295T>C (p.Leu1432Ser)
c.4175T>C (p.Leu1392Ser)
c.4271T>C (p.Leu1424Ser)
c.4217T>C (p.Leu1406Ser)
c.4178T>C (p.Leu1393Ser)
c.4127T>C (p.Leu1376Ser)
c.1259T>C (p.Leu420Ser)
18g.33744143T>GCA402190607ASXL3c.4298T>G (p.Leu1433Ter)
c.4295T>G (p.Leu1432Ter)
c.4175T>G (p.Leu1392Ter)
c.4271T>G (p.Leu1424Ter)
c.4217T>G (p.Leu1406Ter)
c.4178T>G (p.Leu1393Ter)
c.4127T>G (p.Leu1376Ter)
c.1259T>G (p.Leu420Ter)
18g.33744144A>CCA402190608ASXL3c.4299A>C (p.Leu1433Phe)
c.4296A>C (p.Leu1432Phe)
c.4176A>C (p.Leu1392Phe)
c.4272A>C (p.Leu1424Phe)
c.4218A>C (p.Leu1406Phe)
c.4179A>C (p.Leu1393Phe)
c.4128A>C (p.Leu1376Phe)
c.1260A>C (p.Leu420Phe)
18g.33744144A>GCA503770464ASXL3c.4299A>G (p.Leu1433=)
c.4296A>G (p.Leu1432=)
c.4176A>G (p.Leu1392=)
c.4272A>G (p.Leu1424=)
c.4218A>G (p.Leu1406=)
c.4179A>G (p.Leu1393=)
c.4128A>G (p.Leu1376=)
c.1260A>G (p.Leu420=)
 gnomAD v4
18g.33744144A>TCA402190609ASXL3c.4299A>T (p.Leu1433Phe)
c.4296A>T (p.Leu1432Phe)
c.4176A>T (p.Leu1392Phe)
c.4272A>T (p.Leu1424Phe)
c.4218A>T (p.Leu1406Phe)
c.4179A>T (p.Leu1393Phe)
c.4128A>T (p.Leu1376Phe)
c.1260A>T (p.Leu420Phe)
18g.33744145A>CCA402190610ASXL3c.4300A>C (p.Ser1434Arg)
c.4297A>C (p.Ser1433Arg)
c.4177A>C (p.Ser1393Arg)
c.4273A>C (p.Ser1425Arg)
c.4219A>C (p.Ser1407Arg)
c.4180A>C (p.Ser1394Arg)
c.4129A>C (p.Ser1377Arg)
c.1261A>C (p.Ser421Arg)
18g.33744145A>GCA402190611ASXL3c.4300A>G (p.Ser1434Gly)
c.4297A>G (p.Ser1433Gly)
c.4177A>G (p.Ser1393Gly)
c.4273A>G (p.Ser1425Gly)
c.4219A>G (p.Ser1407Gly)
c.4180A>G (p.Ser1394Gly)
c.4129A>G (p.Ser1377Gly)
c.1261A>G (p.Ser421Gly)
18g.33744145A>TCA402190612ASXL3c.4300A>T (p.Ser1434Cys)
c.4297A>T (p.Ser1433Cys)
c.4177A>T (p.Ser1393Cys)
c.4273A>T (p.Ser1425Cys)
c.4219A>T (p.Ser1407Cys)
c.4180A>T (p.Ser1394Cys)
c.4129A>T (p.Ser1377Cys)
c.1261A>T (p.Ser421Cys)
18g.33744146G>ACA402190613ASXL3c.4301G>A (p.Ser1434Asn)
c.4298G>A (p.Ser1433Asn)
c.4178G>A (p.Ser1393Asn)
c.4274G>A (p.Ser1425Asn)
c.4220G>A (p.Ser1407Asn)
c.4181G>A (p.Ser1394Asn)
c.4130G>A (p.Ser1377Asn)
c.1262G>A (p.Ser421Asn)
 dbSNP gnomAD v2
18g.33744146G>CCA402190614ASXL3c.4301G>C (p.Ser1434Thr)
c.4298G>C (p.Ser1433Thr)
c.4178G>C (p.Ser1393Thr)
c.4274G>C (p.Ser1425Thr)
c.4220G>C (p.Ser1407Thr)
c.4181G>C (p.Ser1394Thr)
c.4130G>C (p.Ser1377Thr)
c.1262G>C (p.Ser421Thr)
 gnomAD v4
18g.33744146G=CA2294858015ASXL3c.4301G= (p.Ser1434=)
c.4298G= (p.Ser1433=)
c.4178G= (p.Ser1393=)
c.4274G= (p.Ser1425=)
c.4220G= (p.Ser1407=)
c.4181G= (p.Ser1394=)
c.4130G= (p.Ser1377=)
c.1262G= (p.Ser421=)
18g.33744146G>TCA402190615ASXL3c.4301G>T (p.Ser1434Ile)
c.4298G>T (p.Ser1433Ile)
c.4178G>T (p.Ser1393Ile)
c.4274G>T (p.Ser1425Ile)
c.4220G>T (p.Ser1407Ile)
c.4181G>T (p.Ser1394Ile)
c.4130G>T (p.Ser1377Ile)
c.1262G>T (p.Ser421Ile)
18g.33744147T>ACA402190616ASXL3c.4302T>A (p.Ser1434Arg)
c.4299T>A (p.Ser1433Arg)
c.4179T>A (p.Ser1393Arg)
c.4275T>A (p.Ser1425Arg)
c.4221T>A (p.Ser1407Arg)
c.4182T>A (p.Ser1394Arg)
c.4131T>A (p.Ser1377Arg)
c.1263T>A (p.Ser421Arg)
18g.33744147T>CCA503770473ASXL3c.4302T>C (p.Ser1434=)
c.4299T>C (p.Ser1433=)
c.4179T>C (p.Ser1393=)
c.4275T>C (p.Ser1425=)
c.4221T>C (p.Ser1407=)
c.4182T>C (p.Ser1394=)
c.4131T>C (p.Ser1377=)
c.1263T>C (p.Ser421=)
18g.33744147T>GCA402190617ASXL3c.4302T>G (p.Ser1434Arg)
c.4299T>G (p.Ser1433Arg)
c.4179T>G (p.Ser1393Arg)
c.4275T>G (p.Ser1425Arg)
c.4221T>G (p.Ser1407Arg)
c.4182T>G (p.Ser1394Arg)
c.4131T>G (p.Ser1377Arg)
c.1263T>G (p.Ser421Arg)
18g.33744148G>ACA402190618ASXL3c.4303G>A (p.Ala1435Thr)
c.4300G>A (p.Ala1434Thr)
c.4180G>A (p.Ala1394Thr)
c.4276G>A (p.Ala1426Thr)
c.4222G>A (p.Ala1408Thr)
c.4183G>A (p.Ala1395Thr)
c.4132G>A (p.Ala1378Thr)
c.1264G>A (p.Ala422Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744148G>CCA402190619ASXL3c.4303G>C (p.Ala1435Pro)
c.4300G>C (p.Ala1434Pro)
c.4180G>C (p.Ala1394Pro)
c.4276G>C (p.Ala1426Pro)
c.4222G>C (p.Ala1408Pro)
c.4183G>C (p.Ala1395Pro)
c.4132G>C (p.Ala1378Pro)
c.1264G>C (p.Ala422Pro)
18g.33744148G=CA2294858016ASXL3c.4303G= (p.Ala1435=)
c.4300G= (p.Ala1434=)
c.4180G= (p.Ala1394=)
c.4276G= (p.Ala1426=)
c.4222G= (p.Ala1408=)
c.4183G= (p.Ala1395=)
c.4132G= (p.Ala1378=)
c.1264G= (p.Ala422=)
18g.33744148G>TCA402190620ASXL3c.4303G>T (p.Ala1435Ser)
c.4300G>T (p.Ala1434Ser)
c.4180G>T (p.Ala1394Ser)
c.4276G>T (p.Ala1426Ser)
c.4222G>T (p.Ala1408Ser)
c.4183G>T (p.Ala1395Ser)
c.4132G>T (p.Ala1378Ser)
c.1264G>T (p.Ala422Ser)
18g.33744149C>ACA402190623ASXL3c.4304C>A (p.Ala1435Asp)
c.4301C>A (p.Ala1434Asp)
c.4181C>A (p.Ala1394Asp)
c.4277C>A (p.Ala1426Asp)
c.4223C>A (p.Ala1408Asp)
c.4184C>A (p.Ala1395Asp)
c.4133C>A (p.Ala1378Asp)
c.1265C>A (p.Ala422Asp)
18g.33744149C>GCA402190622ASXL3c.4304C>G (p.Ala1435Gly)
c.4301C>G (p.Ala1434Gly)
c.4181C>G (p.Ala1394Gly)
c.4277C>G (p.Ala1426Gly)
c.4223C>G (p.Ala1408Gly)
c.4184C>G (p.Ala1395Gly)
c.4133C>G (p.Ala1378Gly)
c.1265C>G (p.Ala422Gly)
18g.33744149C>TCA402190621ASXL3c.4304C>T (p.Ala1435Val)
c.4301C>T (p.Ala1434Val)
c.4181C>T (p.Ala1394Val)
c.4277C>T (p.Ala1426Val)
c.4223C>T (p.Ala1408Val)
c.4184C>T (p.Ala1395Val)
c.4133C>T (p.Ala1378Val)
c.1265C>T (p.Ala422Val)
18g.33744150T>ACA503770479ASXL3c.4305T>A (p.Ala1435=)
c.4302T>A (p.Ala1434=)
c.4182T>A (p.Ala1394=)
c.4278T>A (p.Ala1426=)
c.4224T>A (p.Ala1408=)
c.4185T>A (p.Ala1395=)
c.4134T>A (p.Ala1378=)
c.1266T>A (p.Ala422=)
 gnomAD v4
18g.33744150T>CCA503770481ASXL3c.4305T>C (p.Ala1435=)
c.4302T>C (p.Ala1434=)
c.4182T>C (p.Ala1394=)
c.4278T>C (p.Ala1426=)
c.4224T>C (p.Ala1408=)
c.4185T>C (p.Ala1395=)
c.4134T>C (p.Ala1378=)
c.1266T>C (p.Ala422=)
 gnomAD v4
18g.33744150T>GCA503770482ASXL3c.4305T>G (p.Ala1435=)
c.4302T>G (p.Ala1434=)
c.4182T>G (p.Ala1394=)
c.4278T>G (p.Ala1426=)
c.4224T>G (p.Ala1408=)
c.4185T>G (p.Ala1395=)
c.4134T>G (p.Ala1378=)
c.1266T>G (p.Ala422=)
18g.33744151G>ACA8934234ASXL3c.4306G>A (p.Glu1436Lys)
c.4303G>A (p.Glu1435Lys)
c.4183G>A (p.Glu1395Lys)
c.4279G>A (p.Glu1427Lys)
c.4225G>A (p.Glu1409Lys)
c.4186G>A (p.Glu1396Lys)
c.4135G>A (p.Glu1379Lys)
c.1267G>A (p.Glu423Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744151G>CCA402190624ASXL3c.4306G>C (p.Glu1436Gln)
c.4303G>C (p.Glu1435Gln)
c.4183G>C (p.Glu1395Gln)
c.4279G>C (p.Glu1427Gln)
c.4225G>C (p.Glu1409Gln)
c.4186G>C (p.Glu1396Gln)
c.4135G>C (p.Glu1379Gln)
c.1267G>C (p.Glu423Gln)
18g.33744151G=CA2294858017ASXL3c.4306G= (p.Glu1436=)
c.4303G= (p.Glu1435=)
c.4183G= (p.Glu1395=)
c.4279G= (p.Glu1427=)
c.4225G= (p.Glu1409=)
c.4186G= (p.Glu1396=)
c.4135G= (p.Glu1379=)
c.1267G= (p.Glu423=)
18g.33744151G>TCA402190625ASXL3c.4306G>T (p.Glu1436Ter)
c.4303G>T (p.Glu1435Ter)
c.4183G>T (p.Glu1395Ter)
c.4279G>T (p.Glu1427Ter)
c.4225G>T (p.Glu1409Ter)
c.4186G>T (p.Glu1396Ter)
c.4135G>T (p.Glu1379Ter)
c.1267G>T (p.Glu423Ter)
18g.33744152A>CCA402190626ASXL3c.4307A>C (p.Glu1436Ala)
c.4304A>C (p.Glu1435Ala)
c.4184A>C (p.Glu1395Ala)
c.4280A>C (p.Glu1427Ala)
c.4226A>C (p.Glu1409Ala)
c.4187A>C (p.Glu1396Ala)
c.4136A>C (p.Glu1379Ala)
c.1268A>C (p.Glu423Ala)
18g.33744152A>GCA402190627ASXL3c.4307A>G (p.Glu1436Gly)
c.4304A>G (p.Glu1435Gly)
c.4184A>G (p.Glu1395Gly)
c.4280A>G (p.Glu1427Gly)
c.4226A>G (p.Glu1409Gly)
c.4187A>G (p.Glu1396Gly)
c.4136A>G (p.Glu1379Gly)
c.1268A>G (p.Glu423Gly)
18g.33744152A>TCA402190628ASXL3c.4307A>T (p.Glu1436Val)
c.4304A>T (p.Glu1435Val)
c.4184A>T (p.Glu1395Val)
c.4280A>T (p.Glu1427Val)
c.4226A>T (p.Glu1409Val)
c.4187A>T (p.Glu1396Val)
c.4136A>T (p.Glu1379Val)
c.1268A>T (p.Glu423Val)
18g.33744153A>CCA402190629ASXL3c.4308A>C (p.Glu1436Asp)
c.4305A>C (p.Glu1435Asp)
c.4185A>C (p.Glu1395Asp)
c.4281A>C (p.Glu1427Asp)
c.4227A>C (p.Glu1409Asp)
c.4188A>C (p.Glu1396Asp)
c.4137A>C (p.Glu1379Asp)
c.1269A>C (p.Glu423Asp)
18g.33744153A>GCA503770489ASXL3c.4308A>G (p.Glu1436=)
c.4305A>G (p.Glu1435=)
c.4185A>G (p.Glu1395=)
c.4281A>G (p.Glu1427=)
c.4227A>G (p.Glu1409=)
c.4188A>G (p.Glu1396=)
c.4137A>G (p.Glu1379=)
c.1269A>G (p.Glu423=)
18g.33744153A>TCA402190630ASXL3c.4308A>T (p.Glu1436Asp)
c.4305A>T (p.Glu1435Asp)
c.4185A>T (p.Glu1395Asp)
c.4281A>T (p.Glu1427Asp)
c.4227A>T (p.Glu1409Asp)
c.4188A>T (p.Glu1396Asp)
c.4137A>T (p.Glu1379Asp)
c.1269A>T (p.Glu423Asp)
18g.33744154A>CCA402190631ASXL3c.4309A>C (p.Ser1437Arg)
c.4306A>C (p.Ser1436Arg)
c.4186A>C (p.Ser1396Arg)
c.4282A>C (p.Ser1428Arg)
c.4228A>C (p.Ser1410Arg)
c.4189A>C (p.Ser1397Arg)
c.4138A>C (p.Ser1380Arg)
c.1270A>C (p.Ser424Arg)
18g.33744154A>GCA402190632ASXL3c.4309A>G (p.Ser1437Gly)
c.4306A>G (p.Ser1436Gly)
c.4186A>G (p.Ser1396Gly)
c.4282A>G (p.Ser1428Gly)
c.4228A>G (p.Ser1410Gly)
c.4189A>G (p.Ser1397Gly)
c.4138A>G (p.Ser1380Gly)
c.1270A>G (p.Ser424Gly)
18g.33744154A>TCA402190633ASXL3c.4309A>T (p.Ser1437Cys)
c.4306A>T (p.Ser1436Cys)
c.4186A>T (p.Ser1396Cys)
c.4282A>T (p.Ser1428Cys)
c.4228A>T (p.Ser1410Cys)
c.4189A>T (p.Ser1397Cys)
c.4138A>T (p.Ser1380Cys)
c.1270A>T (p.Ser424Cys)
18g.33744155G>ACA402190636ASXL3c.4310G>A (p.Ser1437Asn)
c.4307G>A (p.Ser1436Asn)
c.4187G>A (p.Ser1396Asn)
c.4283G>A (p.Ser1428Asn)
c.4229G>A (p.Ser1410Asn)
c.4190G>A (p.Ser1397Asn)
c.4139G>A (p.Ser1380Asn)
c.1271G>A (p.Ser424Asn)
 gnomAD v4
18g.33744155G>CCA402190635ASXL3c.4310G>C (p.Ser1437Thr)
c.4307G>C (p.Ser1436Thr)
c.4187G>C (p.Ser1396Thr)
c.4283G>C (p.Ser1428Thr)
c.4229G>C (p.Ser1410Thr)
c.4190G>C (p.Ser1397Thr)
c.4139G>C (p.Ser1380Thr)
c.1271G>C (p.Ser424Thr)
18g.33744155G>TCA402190634ASXL3c.4310G>T (p.Ser1437Ile)
c.4307G>T (p.Ser1436Ile)
c.4187G>T (p.Ser1396Ile)
c.4283G>T (p.Ser1428Ile)
c.4229G>T (p.Ser1410Ile)
c.4190G>T (p.Ser1397Ile)
c.4139G>T (p.Ser1380Ile)
c.1271G>T (p.Ser424Ile)
18g.33744156C>ACA402190637ASXL3c.4311C>A (p.Ser1437Arg)
c.4308C>A (p.Ser1436Arg)
c.4188C>A (p.Ser1396Arg)
c.4284C>A (p.Ser1428Arg)
c.4230C>A (p.Ser1410Arg)
c.4191C>A (p.Ser1397Arg)
c.4140C>A (p.Ser1380Arg)
c.1272C>A (p.Ser424Arg)
18g.33744156C>GCA402190638ASXL3c.4311C>G (p.Ser1437Arg)
c.4308C>G (p.Ser1436Arg)
c.4188C>G (p.Ser1396Arg)
c.4284C>G (p.Ser1428Arg)
c.4230C>G (p.Ser1410Arg)
c.4191C>G (p.Ser1397Arg)
c.4140C>G (p.Ser1380Arg)
c.1272C>G (p.Ser424Arg)
18g.33744156C>TCA503770495ASXL3c.4311C>T (p.Ser1437=)
c.4308C>T (p.Ser1436=)
c.4188C>T (p.Ser1396=)
c.4284C>T (p.Ser1428=)
c.4230C>T (p.Ser1410=)
c.4191C>T (p.Ser1397=)
c.4140C>T (p.Ser1380=)
c.1272C>T (p.Ser424=)
18g.33744157T>ACA402190639ASXL3c.4312T>A (p.Leu1438Met)
c.4309T>A (p.Leu1437Met)
c.4189T>A (p.Leu1397Met)
c.4285T>A (p.Leu1429Met)
c.4231T>A (p.Leu1411Met)
c.4192T>A (p.Leu1398Met)
c.4141T>A (p.Leu1381Met)
c.1273T>A (p.Leu425Met)
18g.33744157T>CCA503770498ASXL3c.4312T>C (p.Leu1438=)
c.4309T>C (p.Leu1437=)
c.4189T>C (p.Leu1397=)
c.4285T>C (p.Leu1429=)
c.4231T>C (p.Leu1411=)
c.4192T>C (p.Leu1398=)
c.4141T>C (p.Leu1381=)
c.1273T>C (p.Leu425=)
18g.33744157T>GCA402190640ASXL3c.4312T>G (p.Leu1438Val)
c.4309T>G (p.Leu1437Val)
c.4189T>G (p.Leu1397Val)
c.4285T>G (p.Leu1429Val)
c.4231T>G (p.Leu1411Val)
c.4192T>G (p.Leu1398Val)
c.4141T>G (p.Leu1381Val)
c.1273T>G (p.Leu425Val)
18g.33744158T>ACA402190641ASXL3c.4313T>A (p.Leu1438Ter)
c.4310T>A (p.Leu1437Ter)
c.4190T>A (p.Leu1397Ter)
c.4286T>A (p.Leu1429Ter)
c.4232T>A (p.Leu1411Ter)
c.4193T>A (p.Leu1398Ter)
c.4142T>A (p.Leu1381Ter)
c.1274T>A (p.Leu425Ter)
18g.33744158T>CCA402190642ASXL3c.4313T>C (p.Leu1438Ser)
c.4310T>C (p.Leu1437Ser)
c.4190T>C (p.Leu1397Ser)
c.4286T>C (p.Leu1429Ser)
c.4232T>C (p.Leu1411Ser)
c.4193T>C (p.Leu1398Ser)
c.4142T>C (p.Leu1381Ser)
c.1274T>C (p.Leu425Ser)
18g.33744158T>GCA402190643ASXL3c.4313T>G (p.Leu1438Trp)
c.4310T>G (p.Leu1437Trp)
c.4190T>G (p.Leu1397Trp)
c.4286T>G (p.Leu1429Trp)
c.4232T>G (p.Leu1411Trp)
c.4193T>G (p.Leu1398Trp)
c.4142T>G (p.Leu1381Trp)
c.1274T>G (p.Leu425Trp)
 gnomAD v4
18g.33744159G>ACA503770503ASXL3c.4314G>A (p.Leu1438=)
c.4311G>A (p.Leu1437=)
c.4191G>A (p.Leu1397=)
c.4287G>A (p.Leu1429=)
c.4233G>A (p.Leu1411=)
c.4194G>A (p.Leu1398=)
c.4143G>A (p.Leu1381=)
c.1275G>A (p.Leu425=)
18g.33744159G>CCA402190644ASXL3c.4314G>C (p.Leu1438Phe)
c.4311G>C (p.Leu1437Phe)
c.4191G>C (p.Leu1397Phe)
c.4287G>C (p.Leu1429Phe)
c.4233G>C (p.Leu1411Phe)
c.4194G>C (p.Leu1398Phe)
c.4143G>C (p.Leu1381Phe)
c.1275G>C (p.Leu425Phe)
18g.33744159G>TCA402190645ASXL3c.4314G>T (p.Leu1438Phe)
c.4311G>T (p.Leu1437Phe)
c.4191G>T (p.Leu1397Phe)
c.4287G>T (p.Leu1429Phe)
c.4233G>T (p.Leu1411Phe)
c.4194G>T (p.Leu1398Phe)
c.4143G>T (p.Leu1381Phe)
c.1275G>T (p.Leu425Phe)
 dbSNP gnomAD v4
18g.33744160G>ACA402190646ASXL3c.4315G>A (p.Asp1439Asn)
c.4312G>A (p.Asp1438Asn)
c.4192G>A (p.Asp1398Asn)
c.4288G>A (p.Asp1430Asn)
c.4234G>A (p.Asp1412Asn)
c.4195G>A (p.Asp1399Asn)
c.4144G>A (p.Asp1382Asn)
c.1276G>A (p.Asp426Asn)
18g.33744160G>CCA402190647ASXL3c.4315G>C (p.Asp1439His)
c.4312G>C (p.Asp1438His)
c.4192G>C (p.Asp1398His)
c.4288G>C (p.Asp1430His)
c.4234G>C (p.Asp1412His)
c.4195G>C (p.Asp1399His)
c.4144G>C (p.Asp1382His)
c.1276G>C (p.Asp426His)
 gnomAD v4
18g.33744160G>TCA402190648ASXL3c.4315G>T (p.Asp1439Tyr)
c.4312G>T (p.Asp1438Tyr)
c.4192G>T (p.Asp1398Tyr)
c.4288G>T (p.Asp1430Tyr)
c.4234G>T (p.Asp1412Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4144G>T (p.Asp1382Tyr)
c.1276G>T (p.Asp426Tyr)
18g.33744161A>CCA402190651ASXL3c.4316A>C (p.Asp1439Ala)
c.4313A>C (p.Asp1438Ala)
c.4193A>C (p.Asp1398Ala)
c.4289A>C (p.Asp1430Ala)
c.4235A>C (p.Asp1412Ala)
c.4196A>C (p.Asp1399Ala)
c.4145A>C (p.Asp1382Ala)
c.1277A>C (p.Asp426Ala)
18g.33744161A>GCA402190650ASXL3c.4316A>G (p.Asp1439Gly)
c.4313A>G (p.Asp1438Gly)
c.4193A>G (p.Asp1398Gly)
c.4289A>G (p.Asp1430Gly)
c.4235A>G (p.Asp1412Gly)
c.4196A>G (p.Asp1399Gly)
c.4145A>G (p.Asp1382Gly)
c.1277A>G (p.Asp426Gly)
18g.33744161A>TCA402190649ASXL3c.4316A>T (p.Asp1439Val)
c.4313A>T (p.Asp1438Val)
c.4193A>T (p.Asp1398Val)
c.4289A>T (p.Asp1430Val)
c.4235A>T (p.Asp1412Val)
c.4196A>T (p.Asp1399Val)
c.4145A>T (p.Asp1382Val)
c.1277A>T (p.Asp426Val)
18g.33744162C>ACA402190652ASXL3c.4317C>A (p.Asp1439Glu)
c.4314C>A (p.Asp1438Glu)
c.4194C>A (p.Asp1398Glu)
c.4290C>A (p.Asp1430Glu)
c.4236C>A (p.Asp1412Glu)
c.4197C>A (p.Asp1399Glu)
c.4146C>A (p.Asp1382Glu)
c.1278C>A (p.Asp426Glu)
18g.33744162C>GCA402190653ASXL3c.4317C>G (p.Asp1439Glu)
c.4314C>G (p.Asp1438Glu)
c.4194C>G (p.Asp1398Glu)
c.4290C>G (p.Asp1430Glu)
c.4236C>G (p.Asp1412Glu)
c.4197C>G (p.Asp1399Glu)
c.4146C>G (p.Asp1382Glu)
c.1278C>G (p.Asp426Glu)
18g.33744162C>TCA503770508ASXL3c.4317C>T (p.Asp1439=)
c.4314C>T (p.Asp1438=)
c.4194C>T (p.Asp1398=)
c.4290C>T (p.Asp1430=)
c.4236C>T (p.Asp1412=)
c.4197C>T (p.Asp1399=)
c.4146C>T (p.Asp1382=)
c.1278C>T (p.Asp426=)
18g.33744163A>CCA402190654ASXL3c.4318A>C (p.Lys1440Gln)
c.4315A>C (p.Lys1439Gln)
c.4195A>C (p.Lys1399Gln)
c.4291A>C (p.Lys1431Gln)
c.4237A>C (p.Lys1413Gln)
c.4198A>C (p.Lys1400Gln)
c.4147A>C (p.Lys1383Gln)
c.1279A>C (p.Lys427Gln)
18g.33744163A>GCA402190655ASXL3c.4318A>G (p.Lys1440Glu)
c.4315A>G (p.Lys1439Glu)
c.4195A>G (p.Lys1399Glu)
c.4291A>G (p.Lys1431Glu)
c.4237A>G (p.Lys1413Glu)
c.4198A>G (p.Lys1400Glu)
c.4147A>G (p.Lys1383Glu)
c.1279A>G (p.Lys427Glu)
18g.33744163A>TCA402190656ASXL3c.4318A>T (p.Lys1440Ter)
c.4315A>T (p.Lys1439Ter)
c.4195A>T (p.Lys1399Ter)
c.4291A>T (p.Lys1431Ter)
c.4237A>T (p.Lys1413Ter)
c.4198A>T (p.Lys1400Ter)
c.4147A>T (p.Lys1383Ter)
c.1279A>T (p.Lys427Ter)
18g.33744164A=CA2294858018ASXL3c.4319A= (p.Lys1440=)
c.4316A= (p.Lys1439=)
c.4196A= (p.Lys1399=)
c.4292A= (p.Lys1431=)
c.4238A= (p.Lys1413=)
c.4199A= (p.Lys1400=)
c.4148A= (p.Lys1383=)
c.1280A= (p.Lys427=)
18g.33744164A>CCA8934235ASXL3c.4319A>C (p.Lys1440Thr)
c.4316A>C (p.Lys1439Thr)
c.4196A>C (p.Lys1399Thr)
c.4292A>C (p.Lys1431Thr)
c.4238A>C (p.Lys1413Thr)
c.4199A>C (p.Lys1400Thr)
c.4148A>C (p.Lys1383Thr)
c.1280A>C (p.Lys427Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744164A>GCA402190657ASXL3c.4319A>G (p.Lys1440Arg)
c.4316A>G (p.Lys1439Arg)
c.4196A>G (p.Lys1399Arg)
c.4292A>G (p.Lys1431Arg)
c.4238A>G (p.Lys1413Arg)
c.4199A>G (p.Lys1400Arg)
c.4148A>G (p.Lys1383Arg)
c.1280A>G (p.Lys427Arg)
18g.33744164A>TCA402190658ASXL3c.4319A>T (p.Lys1440Ile)
c.4316A>T (p.Lys1439Ile)
c.4196A>T (p.Lys1399Ile)
c.4292A>T (p.Lys1431Ile)
c.4238A>T (p.Lys1413Ile)
c.4199A>T (p.Lys1400Ile)
c.4148A>T (p.Lys1383Ile)
c.1280A>T (p.Lys427Ile)
18g.33744165A>CCA402190659ASXL3c.4320A>C (p.Lys1440Asn)
c.4317A>C (p.Lys1439Asn)
c.4197A>C (p.Lys1399Asn)
c.4293A>C (p.Lys1431Asn)
c.4239A>C (p.Lys1413Asn)
c.4200A>C (p.Lys1400Asn)
c.4149A>C (p.Lys1383Asn)
c.1281A>C (p.Lys427Asn)
18g.33744165A>GCA503770512ASXL3c.4320A>G (p.Lys1440=)
c.4317A>G (p.Lys1439=)
c.4197A>G (p.Lys1399=)
c.4293A>G (p.Lys1431=)
c.4239A>G (p.Lys1413=)
c.4200A>G (p.Lys1400=)
c.4149A>G (p.Lys1383=)
c.1281A>G (p.Lys427=)
18g.33744165A>TCA402190660ASXL3c.4320A>T (p.Lys1440Asn)
c.4317A>T (p.Lys1439Asn)
c.4197A>T (p.Lys1399Asn)
c.4293A>T (p.Lys1431Asn)
c.4239A>T (p.Lys1413Asn)
c.4200A>T (p.Lys1400Asn)
c.4149A>T (p.Lys1383Asn)
c.1281A>T (p.Lys427Asn)
18g.33744166A>CCA402190661ASXL3c.4321A>C (p.Asn1441His)
c.4318A>C (p.Asn1440His)
c.4198A>C (p.Asn1400His)
c.4294A>C (p.Asn1432His)
c.4240A>C (p.Asn1414His)
c.4201A>C (p.Asn1401His)
c.4150A>C (p.Asn1384His)
c.1282A>C (p.Asn428His)
18g.33744166A>GCA402190662ASXL3c.4321A>G (p.Asn1441Asp)
c.4318A>G (p.Asn1440Asp)
c.4198A>G (p.Asn1400Asp)
c.4294A>G (p.Asn1432Asp)
c.4240A>G (p.Asn1414Asp)
c.4201A>G (p.Asn1401Asp)
c.4150A>G (p.Asn1384Asp)
c.1282A>G (p.Asn428Asp)
18g.33744166A>TCA402190663ASXL3c.4321A>T (p.Asn1441Tyr)
c.4318A>T (p.Asn1440Tyr)
c.4198A>T (p.Asn1400Tyr)
c.4294A>T (p.Asn1432Tyr)
c.4240A>T (p.Asn1414Tyr)
c.4201A>T (p.Asn1401Tyr)
c.4150A>T (p.Asn1384Tyr)
c.1282A>T (p.Asn428Tyr)
18g.33744167A=CA2294858019ASXL3c.4322A= (p.Asn1441=)
c.4319A= (p.Asn1440=)
c.4199A= (p.Asn1400=)
c.4295A= (p.Asn1432=)
c.4241A= (p.Asn1414=)
c.4202A= (p.Asn1401=)
c.4151A= (p.Asn1384=)
c.1283A= (p.Asn428=)
18g.33744167A>CCA402190665ASXL3c.4322A>C (p.Asn1441Thr)
c.4319A>C (p.Asn1440Thr)
c.4199A>C (p.Asn1400Thr)
c.4295A>C (p.Asn1432Thr)
c.4241A>C (p.Asn1414Thr)
c.4202A>C (p.Asn1401Thr)
c.4151A>C (p.Asn1384Thr)
c.1283A>C (p.Asn428Thr)
18g.33744167A>GCA8934236ASXL3c.4322A>G (p.Asn1441Ser)
c.4319A>G (p.Asn1440Ser)
c.4199A>G (p.Asn1400Ser)
c.4295A>G (p.Asn1432Ser)
c.4241A>G (p.Asn1414Ser)
c.4202A>G (p.Asn1401Ser)
c.4151A>G (p.Asn1384Ser)
c.1283A>G (p.Asn428Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744167A>TCA402190664ASXL3c.4322A>T (p.Asn1441Ile)
c.4319A>T (p.Asn1440Ile)
c.4199A>T (p.Asn1400Ile)
c.4295A>T (p.Asn1432Ile)
c.4241A>T (p.Asn1414Ile)
c.4202A>T (p.Asn1401Ile)
c.4151A>T (p.Asn1384Ile)
c.1283A>T (p.Asn428Ile)
18g.33744168T>ACA402190666ASXL3c.4323T>A (p.Asn1441Lys)
c.4320T>A (p.Asn1440Lys)
c.4200T>A (p.Asn1400Lys)
c.4296T>A (p.Asn1432Lys)
c.4242T>A (p.Asn1414Lys)
c.4203T>A (p.Asn1401Lys)
c.4152T>A (p.Asn1384Lys)
c.1284T>A (p.Asn428Lys)
18g.33744168T>CCA503770517ASXL3c.4323T>C (p.Asn1441=)
c.4320T>C (p.Asn1440=)
c.4200T>C (p.Asn1400=)
c.4296T>C (p.Asn1432=)
c.4242T>C (p.Asn1414=)
c.4203T>C (p.Asn1401=)
c.4152T>C (p.Asn1384=)
c.1284T>C (p.Asn428=)
18g.33744168T>GCA402190667ASXL3c.4323T>G (p.Asn1441Lys)
c.4320T>G (p.Asn1440Lys)
c.4200T>G (p.Asn1400Lys)
c.4296T>G (p.Asn1432Lys)
c.4242T>G (p.Asn1414Lys)
c.4203T>G (p.Asn1401Lys)
c.4152T>G (p.Asn1384Lys)
c.1284T>G (p.Asn428Lys)
18g.33744169T>ACA402190668ASXL3c.4324T>A (p.Ser1442Thr)
c.4321T>A (p.Ser1441Thr)
c.4201T>A (p.Ser1401Thr)
c.4297T>A (p.Ser1433Thr)
c.4243T>A (p.Ser1415Thr)
c.4204T>A (p.Ser1402Thr)
c.4153T>A (p.Ser1385Thr)
c.1285T>A (p.Ser429Thr)
18g.33744169T>CCA402190669ASXL3c.4324T>C (p.Ser1442Pro)
c.4321T>C (p.Ser1441Pro)
c.4201T>C (p.Ser1401Pro)
c.4297T>C (p.Ser1433Pro)
c.4243T>C (p.Ser1415Pro)
c.4204T>C (p.Ser1402Pro)
c.4153T>C (p.Ser1385Pro)
c.1285T>C (p.Ser429Pro)
18g.33744169T>GCA402190670ASXL3c.4324T>G (p.Ser1442Ala)
c.4321T>G (p.Ser1441Ala)
c.4201T>G (p.Ser1401Ala)
c.4297T>G (p.Ser1433Ala)
c.4243T>G (p.Ser1415Ala)
c.4204T>G (p.Ser1402Ala)
c.4153T>G (p.Ser1385Ala)
c.1285T>G (p.Ser429Ala)
18g.33744170C>ACA402190671ASXL3c.4325C>A (p.Ser1442Ter)
c.4322C>A (p.Ser1441Ter)
c.4202C>A (p.Ser1401Ter)
c.4298C>A (p.Ser1433Ter)
c.4244C>A (p.Ser1415Ter)
c.4205C>A (p.Ser1402Ter)
c.4154C>A (p.Ser1385Ter)
c.1286C>A (p.Ser429Ter)
18g.33744170C=CA2294858020ASXL3c.4325C= (p.Ser1442=)
c.4322C= (p.Ser1441=)
c.4202C= (p.Ser1401=)
c.4298C= (p.Ser1433=)
c.4244C= (p.Ser1415=)
c.4205C= (p.Ser1402=)
c.4154C= (p.Ser1385=)
c.1286C= (p.Ser429=)
18g.33744170C>GCA402190672ASXL3c.4325C>G (p.Ser1442Ter)
c.4322C>G (p.Ser1441Ter)
c.4202C>G (p.Ser1401Ter)
c.4298C>G (p.Ser1433Ter)
c.4244C>G (p.Ser1415Ter)
c.4205C>G (p.Ser1402Ter)
c.4154C>G (p.Ser1385Ter)
c.1286C>G (p.Ser429Ter)
 ClinVar dbSNP
18g.33744170C>TCA402190673ASXL3c.4325C>T (p.Ser1442Leu)
c.4322C>T (p.Ser1441Leu)
c.4202C>T (p.Ser1401Leu)
c.4298C>T (p.Ser1433Leu)
c.4244C>T (p.Ser1415Leu)
c.4205C>T (p.Ser1402Leu)
c.4154C>T (p.Ser1385Leu)
c.1286C>T (p.Ser429Leu)
 COSMIC
18g.33744171delCA2701982262ASXL3c.4326del (p.Pro1444LeufsTer23)
c.4323del (p.Pro1443LeufsTer23)
c.4203del (p.Pro1403LeufsTer23)
c.4299del (p.Pro1435LeufsTer23)
c.4245del (p.Pro1417LeufsTer23)
c.4206del (p.Pro1404LeufsTer23)
c.4155del (p.Pro1387LeufsTer23)
c.1287del (p.Pro431LeufsTer23)
18g.33744171A>CCA503770524ASXL3c.4326A>C (p.Ser1442=)
c.4323A>C (p.Ser1441=)
c.4203A>C (p.Ser1401=)
c.4299A>C (p.Ser1433=)
c.4245A>C (p.Ser1415=)
c.4206A>C (p.Ser1402=)
c.4155A>C (p.Ser1385=)
c.1287A>C (p.Ser429=)
18g.33744171A>GCA503770528ASXL3c.4326A>G (p.Ser1442=)
c.4323A>G (p.Ser1441=)
c.4203A>G (p.Ser1401=)
c.4299A>G (p.Ser1433=)
c.4245A>G (p.Ser1415=)
c.4206A>G (p.Ser1402=)
c.4155A>G (p.Ser1385=)
c.1287A>G (p.Ser429=)
 gnomAD v4
18g.33744171A>TCA503770525ASXL3c.4326A>T (p.Ser1442=)
c.4323A>T (p.Ser1441=)
c.4203A>T (p.Ser1401=)
c.4299A>T (p.Ser1433=)
c.4245A>T (p.Ser1415=)
c.4206A>T (p.Ser1402=)
c.4155A>T (p.Ser1385=)
c.1287A>T (p.Ser429=)
18g.33744172G>ACA402190674ASXL3c.4327G>A (p.Gly1443Arg)
c.4324G>A (p.Gly1442Arg)
c.4204G>A (p.Gly1402Arg)
c.4300G>A (p.Gly1434Arg)
c.4246G>A (p.Gly1416Arg)
c.4207G>A (p.Gly1403Arg)
c.4156G>A (p.Gly1386Arg)
c.1288G>A (p.Gly430Arg)
 gnomAD v4
18g.33744172G>CCA402190675ASXL3c.4327G>C (p.Gly1443Arg)
c.4324G>C (p.Gly1442Arg)
c.4204G>C (p.Gly1402Arg)
c.4300G>C (p.Gly1434Arg)
c.4246G>C (p.Gly1416Arg)
c.4207G>C (p.Gly1403Arg)
c.4156G>C (p.Gly1386Arg)
c.1288G>C (p.Gly430Arg)
18g.33744172G>TCA402190676ASXL3c.4327G>T (p.Gly1443Trp)
c.4324G>T (p.Gly1442Trp)
c.4204G>T (p.Gly1402Trp)
c.4300G>T (p.Gly1434Trp)
c.4246G>T (p.Gly1416Trp)
c.4207G>T (p.Gly1403Trp)
c.4156G>T (p.Gly1386Trp)
c.1288G>T (p.Gly430Trp)
18g.33744173G>ACA8934237ASXL3c.4328G>A (p.Gly1443Glu)
c.4325G>A (p.Gly1442Glu)
c.4205G>A (p.Gly1402Glu)
c.4301G>A (p.Gly1434Glu)
c.4247G>A (p.Gly1416Glu)
c.4208G>A (p.Gly1403Glu)
c.4157G>A (p.Gly1386Glu)
c.1289G>A (p.Gly430Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744173G>CCA402190678ASXL3c.4328G>C (p.Gly1443Ala)
c.4325G>C (p.Gly1442Ala)
c.4205G>C (p.Gly1402Ala)
c.4301G>C (p.Gly1434Ala)
c.4247G>C (p.Gly1416Ala)
c.4208G>C (p.Gly1403Ala)
c.4157G>C (p.Gly1386Ala)
c.1289G>C (p.Gly430Ala)
18g.33744173G=CA2294858021ASXL3c.4328G= (p.Gly1443=)
c.4325G= (p.Gly1442=)
c.4205G= (p.Gly1402=)
c.4301G= (p.Gly1434=)
c.4247G= (p.Gly1416=)
c.4208G= (p.Gly1403=)
c.4157G= (p.Gly1386=)
c.1289G= (p.Gly430=)
18g.33744173G>TCA402190677ASXL3c.4328G>T (p.Gly1443Val)
c.4325G>T (p.Gly1442Val)
c.4205G>T (p.Gly1402Val)
c.4301G>T (p.Gly1434Val)
c.4247G>T (p.Gly1416Val)
c.4208G>T (p.Gly1403Val)
c.4157G>T (p.Gly1386Val)
c.1289G>T (p.Gly430Val)
18g.33744174G>ACA503770537ASXL3c.4329G>A (p.Gly1443=)
c.4326G>A (p.Gly1442=)
c.4206G>A (p.Gly1402=)
c.4302G>A (p.Gly1434=)
c.4248G>A (p.Gly1416=)
c.4209G>A (p.Gly1403=)
c.4158G>A (p.Gly1386=)
c.1290G>A (p.Gly430=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744174G>CCA503770539ASXL3c.4329G>C (p.Gly1443=)
c.4326G>C (p.Gly1442=)
c.4206G>C (p.Gly1402=)
c.4302G>C (p.Gly1434=)
c.4248G>C (p.Gly1416=)
c.4209G>C (p.Gly1403=)
c.4158G>C (p.Gly1386=)
c.1290G>C (p.Gly430=)
18g.33744174G=CA2294858022ASXL3c.4329G= (p.Gly1443=)
c.4326G= (p.Gly1442=)
c.4206G= (p.Gly1402=)
c.4302G= (p.Gly1434=)
c.4248G= (p.Gly1416=)
c.4209G= (p.Gly1403=)
c.4158G= (p.Gly1386=)
c.1290G= (p.Gly430=)
18g.33744174G>TCA503770540ASXL3c.4329G>T (p.Gly1443=)
c.4326G>T (p.Gly1442=)
c.4206G>T (p.Gly1402=)
c.4302G>T (p.Gly1434=)
c.4248G>T (p.Gly1416=)
c.4209G>T (p.Gly1403=)
c.4158G>T (p.Gly1386=)
c.1290G>T (p.Gly430=)
18g.33744175C>ACA402190679ASXL3c.4330C>A (p.Pro1444Thr)
c.4327C>A (p.Pro1443Thr)
c.4207C>A (p.Pro1403Thr)
c.4303C>A (p.Pro1435Thr)
c.4249C>A (p.Pro1417Thr)
c.4210C>A (p.Pro1404Thr)
c.4159C>A (p.Pro1387Thr)
c.1291C>A (p.Pro431Thr)
 dbSNP
18g.33744175C=CA2294858023ASXL3c.4330C= (p.Pro1444=)
c.4327C= (p.Pro1443=)
c.4207C= (p.Pro1403=)
c.4303C= (p.Pro1435=)
c.4249C= (p.Pro1417=)
c.4210C= (p.Pro1404=)
c.4159C= (p.Pro1387=)
c.1291C= (p.Pro431=)
18g.33744175C>GCA402190680ASXL3c.4330C>G (p.Pro1444Ala)
c.4327C>G (p.Pro1443Ala)
c.4207C>G (p.Pro1403Ala)
c.4303C>G (p.Pro1435Ala)
c.4249C>G (p.Pro1417Ala)
c.4210C>G (p.Pro1404Ala)
c.4159C>G (p.Pro1387Ala)
c.1291C>G (p.Pro431Ala)
18g.33744175C>TCA402190681ASXL3c.4330C>T (p.Pro1444Ser)
c.4327C>T (p.Pro1443Ser)
c.4207C>T (p.Pro1403Ser)
c.4303C>T (p.Pro1435Ser)
c.4249C>T (p.Pro1417Ser)
c.4210C>T (p.Pro1404Ser)
c.4159C>T (p.Pro1387Ser)
c.1291C>T (p.Pro431Ser)
18g.33744176C>ACA402190682ASXL3c.4331C>A (p.Pro1444His)
c.4328C>A (p.Pro1443His)
c.4208C>A (p.Pro1403His)
c.4304C>A (p.Pro1435His)
c.4250C>A (p.Pro1417His)
c.4211C>A (p.Pro1404His)
c.4160C>A (p.Pro1387His)
c.1292C>A (p.Pro431His)
18g.33744176C=CA2294858024ASXL3c.4331C= (p.Pro1444=)
c.4328C= (p.Pro1443=)
c.4208C= (p.Pro1403=)
c.4304C= (p.Pro1435=)
c.4250C= (p.Pro1417=)
c.4211C= (p.Pro1404=)
c.4160C= (p.Pro1387=)
c.1292C= (p.Pro431=)
18g.33744176C>GCA8934239ASXL3c.4331C>G (p.Pro1444Arg)
c.4328C>G (p.Pro1443Arg)
c.4208C>G (p.Pro1403Arg)
c.4304C>G (p.Pro1435Arg)
c.4250C>G (p.Pro1417Arg)
c.4211C>G (p.Pro1404Arg)
c.4160C>G (p.Pro1387Arg)
c.1292C>G (p.Pro431Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744176C>TCA8934238ASXL3c.4331C>T (p.Pro1444Leu)
c.4328C>T (p.Pro1443Leu)
c.4208C>T (p.Pro1403Leu)
c.4304C>T (p.Pro1435Leu)
c.4250C>T (p.Pro1417Leu)
c.4211C>T (p.Pro1404Leu)
c.4160C>T (p.Pro1387Leu)
c.1292C>T (p.Pro431Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744177T>ACA503770543ASXL3c.4332T>A (p.Pro1444=)
c.4329T>A (p.Pro1443=)
c.4209T>A (p.Pro1403=)
c.4305T>A (p.Pro1435=)
c.4251T>A (p.Pro1417=)
c.4212T>A (p.Pro1404=)
c.4161T>A (p.Pro1387=)
c.1293T>A (p.Pro431=)
18g.33744177T>CCA503770545ASXL3c.4332T>C (p.Pro1444=)
c.4329T>C (p.Pro1443=)
c.4209T>C (p.Pro1403=)
c.4305T>C (p.Pro1435=)
c.4251T>C (p.Pro1417=)
c.4212T>C (p.Pro1404=)
c.4161T>C (p.Pro1387=)
c.1293T>C (p.Pro431=)
18g.33744177T>GCA503770547ASXL3c.4332T>G (p.Pro1444=)
c.4329T>G (p.Pro1443=)
c.4209T>G (p.Pro1403=)
c.4305T>G (p.Pro1435=)
c.4251T>G (p.Pro1417=)
c.4212T>G (p.Pro1404=)
c.4161T>G (p.Pro1387=)
c.1293T>G (p.Pro431=)
18g.33744178C>ACA503770548ASXL3c.4333C>A (p.Arg1445=)
c.4330C>A (p.Arg1444=)
c.4210C>A (p.Arg1404=)
c.4306C>A (p.Arg1436=)
c.4252C>A (p.Arg1418=)
c.4213C>A (p.Arg1405=)
c.4162C>A (p.Arg1388=)
c.1294C>A (p.Arg432=)
 COSMIC
18g.33744178C=CA2294858025ASXL3c.4333C= (p.Arg1445=)
c.4330C= (p.Arg1444=)
c.4210C= (p.Arg1404=)
c.4306C= (p.Arg1436=)
c.4252C= (p.Arg1418=)
c.4213C= (p.Arg1405=)
c.4162C= (p.Arg1388=)
c.1294C= (p.Arg432=)
18g.33744178C>GCA402190684ASXL3c.4333C>G (p.Arg1445Gly)
c.4330C>G (p.Arg1444Gly)
c.4210C>G (p.Arg1404Gly)
c.4306C>G (p.Arg1436Gly)
c.4252C>G (p.Arg1418Gly)
c.4213C>G (p.Arg1405Gly)
c.4162C>G (p.Arg1388Gly)
c.1294C>G (p.Arg432Gly)
18g.33744178C>TCA402190683ASXL3c.4333C>T (p.Arg1445Ter)
c.4330C>T (p.Arg1444Ter)
c.4210C>T (p.Arg1404Ter)
c.4306C>T (p.Arg1436Ter)
c.4252C>T (p.Arg1418Ter)
c.4213C>T (p.Arg1405Ter)
c.4162C>T (p.Arg1388Ter)
c.1294C>T (p.Arg432Ter)
 ClinVar dbSNP
18g.33744179G>ACA8934240ASXL3c.4334G>A (p.Arg1445Gln)
c.4331G>A (p.Arg1444Gln)
c.4211G>A (p.Arg1404Gln)
c.4307G>A (p.Arg1436Gln)
c.4253G>A (p.Arg1418Gln)
c.4214G>A (p.Arg1405Gln)
c.4163G>A (p.Arg1388Gln)
c.1295G>A (p.Arg432Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744179G>CCA402190685ASXL3c.4334G>C (p.Arg1445Pro)
c.4331G>C (p.Arg1444Pro)
c.4211G>C (p.Arg1404Pro)
c.4307G>C (p.Arg1436Pro)
c.4253G>C (p.Arg1418Pro)
c.4214G>C (p.Arg1405Pro)
c.4163G>C (p.Arg1388Pro)
c.1295G>C (p.Arg432Pro)
18g.33744179G=CA2294858026ASXL3c.4334G= (p.Arg1445=)
c.4331G= (p.Arg1444=)
c.4211G= (p.Arg1404=)
c.4307G= (p.Arg1436=)
c.4253G= (p.Arg1418=)
c.4214G= (p.Arg1405=)
c.4163G= (p.Arg1388=)
c.1295G= (p.Arg432=)
18g.33744179G>TCA402190686ASXL3c.4334G>T (p.Arg1445Leu)
c.4331G>T (p.Arg1444Leu)
c.4211G>T (p.Arg1404Leu)
c.4307G>T (p.Arg1436Leu)
c.4253G>T (p.Arg1418Leu)
c.4214G>T (p.Arg1405Leu)
c.4163G>T (p.Arg1388Leu)
c.1295G>T (p.Arg432Leu)
18g.33744180A>CCA503770551ASXL3c.4335A>C (p.Arg1445=)
c.4332A>C (p.Arg1444=)
c.4212A>C (p.Arg1404=)
c.4308A>C (p.Arg1436=)
c.4254A>C (p.Arg1418=)
c.4215A>C (p.Arg1405=)
c.4164A>C (p.Arg1388=)
c.1296A>C (p.Arg432=)
18g.33744180A>GCA503770552ASXL3c.4335A>G (p.Arg1445=)
c.4332A>G (p.Arg1444=)
c.4212A>G (p.Arg1404=)
c.4308A>G (p.Arg1436=)
c.4254A>G (p.Arg1418=)
c.4215A>G (p.Arg1405=)
c.4164A>G (p.Arg1388=)
c.1296A>G (p.Arg432=)
18g.33744180A>TCA503770554ASXL3c.4335A>T (p.Arg1445=)
c.4332A>T (p.Arg1444=)
c.4212A>T (p.Arg1404=)
c.4308A>T (p.Arg1436=)
c.4254A>T (p.Arg1418=)
c.4215A>T (p.Arg1405=)
c.4164A>T (p.Arg1388=)
c.1296A>T (p.Arg432=)
18g.33744181A>CCA402190687ASXL3c.4336A>C (p.Asn1446His)
c.4333A>C (p.Asn1445His)
c.4213A>C (p.Asn1405His)
c.4309A>C (p.Asn1437His)
c.4255A>C (p.Asn1419His)
c.4216A>C (p.Asn1406His)
c.4165A>C (p.Asn1389His)
c.1297A>C (p.Asn433His)
18g.33744181A>GCA402190688ASXL3c.4336A>G (p.Asn1446Asp)
c.4333A>G (p.Asn1445Asp)
c.4213A>G (p.Asn1405Asp)
c.4309A>G (p.Asn1437Asp)
c.4255A>G (p.Asn1419Asp)
c.4216A>G (p.Asn1406Asp)
c.4165A>G (p.Asn1389Asp)
c.1297A>G (p.Asn433Asp)
18g.33744181A>TCA402190689ASXL3c.4336A>T (p.Asn1446Tyr)
c.4333A>T (p.Asn1445Tyr)
c.4213A>T (p.Asn1405Tyr)
c.4309A>T (p.Asn1437Tyr)
c.4255A>T (p.Asn1419Tyr)
c.4216A>T (p.Asn1406Tyr)
c.4165A>T (p.Asn1389Tyr)
c.1297A>T (p.Asn433Tyr)
18g.33744182A=CA2294858027ASXL3c.4337A= (p.Asn1446=)
c.4334A= (p.Asn1445=)
c.4214A= (p.Asn1405=)
c.4310A= (p.Asn1437=)
c.4256A= (p.Asn1419=)
c.4217A= (p.Asn1406=)
c.4166A= (p.Asn1389=)
c.1298A= (p.Asn433=)
18g.33744182A>CCA402190690ASXL3c.4337A>C (p.Asn1446Thr)
c.4334A>C (p.Asn1445Thr)
c.4214A>C (p.Asn1405Thr)
c.4310A>C (p.Asn1437Thr)
c.4256A>C (p.Asn1419Thr)
c.4217A>C (p.Asn1406Thr)
c.4166A>C (p.Asn1389Thr)
c.1298A>C (p.Asn433Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744182A>GCA402190692ASXL3c.4337A>G (p.Asn1446Ser)
c.4334A>G (p.Asn1445Ser)
c.4214A>G (p.Asn1405Ser)
c.4310A>G (p.Asn1437Ser)
c.4256A>G (p.Asn1419Ser)
c.4217A>G (p.Asn1406Ser)
c.4166A>G (p.Asn1389Ser)
c.1298A>G (p.Asn433Ser)
18g.33744182A>TCA402190691ASXL3c.4337A>T (p.Asn1446Ile)
c.4334A>T (p.Asn1445Ile)
c.4214A>T (p.Asn1405Ile)
c.4310A>T (p.Asn1437Ile)
c.4256A>T (p.Asn1419Ile)
c.4217A>T (p.Asn1406Ile)
c.4166A>T (p.Asn1389Ile)
c.1298A>T (p.Asn433Ile)
18g.33744183C>ACA402190693ASXL3c.4338C>A (p.Asn1446Lys)
c.4335C>A (p.Asn1445Lys)
c.4215C>A (p.Asn1405Lys)
c.4311C>A (p.Asn1437Lys)
c.4257C>A (p.Asn1419Lys)
c.4218C>A (p.Asn1406Lys)
c.4167C>A (p.Asn1389Lys)
c.1299C>A (p.Asn433Lys)
18g.33744183C=CA2294858029ASXL3c.4338C= (p.Asn1446=)
c.4335C= (p.Asn1445=)
c.4215C= (p.Asn1405=)
c.4311C= (p.Asn1437=)
c.4257C= (p.Asn1419=)
c.4218C= (p.Asn1406=)
c.4167C= (p.Asn1389=)
c.1299C= (p.Asn433=)
18g.33744183C>GCA402190694ASXL3c.4338C>G (p.Asn1446Lys)
c.4335C>G (p.Asn1445Lys)
c.4215C>G (p.Asn1405Lys)
c.4311C>G (p.Asn1437Lys)
c.4257C>G (p.Asn1419Lys)
c.4218C>G (p.Asn1406Lys)
c.4167C>G (p.Asn1389Lys)
c.1299C>G (p.Asn433Lys)
18g.33744183C>TCA503770563ASXL3c.4338C>T (p.Asn1446=)
c.4335C>T (p.Asn1445=)
c.4215C>T (p.Asn1405=)
c.4311C>T (p.Asn1437=)
c.4257C>T (p.Asn1419=)
c.4218C>T (p.Asn1406=)
c.4167C>T (p.Asn1389=)
c.1299C>T (p.Asn433=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33744183_33744185delinsCAGCA2294858028ASXL3c.4338_4340delinsCAG (p.Asn1446=)
c.4335_4337delinsCAG (p.Asn1445=)
c.4215_4217delinsCAG (p.Asn1405=)
c.4311_4313delinsCAG (p.Asn1437=)
c.4257_4259delinsCAG (p.Asn1419=)
c.4218_4220delinsCAG (p.Asn1406=)
c.4167_4169delinsCAG (p.Asn1389=)
c.1299_1301delinsCAG (p.Asn433=)
18g.33744184A=CA2294858030ASXL3c.4339A= (p.Arg1447=)
c.4336A= (p.Arg1446=)
c.4216A= (p.Arg1406=)
c.4312A= (p.Arg1438=)
c.4258A= (p.Arg1420=)
c.4219A= (p.Arg1407=)
c.4168A= (p.Arg1390=)
c.1300A= (p.Arg434=)
18g.33744184A>CCA503770564ASXL3c.4339A>C (p.Arg1447=)
c.4336A>C (p.Arg1446=)
c.4216A>C (p.Arg1406=)
c.4312A>C (p.Arg1438=)
c.4258A>C (p.Arg1420=)
c.4219A>C (p.Arg1407=)
c.4168A>C (p.Arg1390=)
c.1300A>C (p.Arg434=)
 gnomAD v4
18g.33744184A>GCA402190695ASXL3c.4339A>G (p.Arg1447Gly)
c.4336A>G (p.Arg1446Gly)
c.4216A>G (p.Arg1406Gly)
c.4312A>G (p.Arg1438Gly)
c.4258A>G (p.Arg1420Gly)
c.4219A>G (p.Arg1407Gly)
c.4168A>G (p.Arg1390Gly)
c.1300A>G (p.Arg434Gly)
 gnomAD v4
18g.33744184A>TCA8934241ASXL3c.4339A>T (p.Arg1447Trp)
c.4336A>T (p.Arg1446Trp)
c.4216A>T (p.Arg1406Trp)
c.4312A>T (p.Arg1438Trp)
c.4258A>T (p.Arg1420Trp)
c.4219A>T (p.Arg1407Trp)
c.4168A>T (p.Arg1390Trp)
c.1300A>T (p.Arg434Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744184_33744185delCA915952507ASXL3c.4339_4340del (p.Arg1447GlyfsTer3)
c.4336_4337del (p.Arg1446GlyfsTer3)
c.4216_4217del (p.Arg1406GlyfsTer3)
c.4312_4313del (p.Arg1438GlyfsTer3)
c.4258_4259del (p.Arg1420GlyfsTer3)
c.4219_4220del (p.Arg1407GlyfsTer3)
c.4168_4169del (p.Arg1390GlyfsTer3)
c.1300_1301del (p.Arg434GlyfsTer3)
 ClinVar dbSNP
18g.33744185G>ACA402190696ASXL3c.4340G>A (p.Arg1447Lys)
c.4337G>A (p.Arg1446Lys)
c.4217G>A (p.Arg1406Lys)
c.4313G>A (p.Arg1438Lys)
c.4259G>A (p.Arg1420Lys)
c.4220G>A (p.Arg1407Lys)
c.4169G>A (p.Arg1390Lys)
c.1301G>A (p.Arg434Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744185G>CCA402190697ASXL3c.4340G>C (p.Arg1447Thr)
c.4337G>C (p.Arg1446Thr)
c.4217G>C (p.Arg1406Thr)
c.4313G>C (p.Arg1438Thr)
c.4259G>C (p.Arg1420Thr)
c.4220G>C (p.Arg1407Thr)
c.4169G>C (p.Arg1390Thr)
c.1301G>C (p.Arg434Thr)
18g.33744185G=CA2294858031ASXL3c.4340G= (p.Arg1447=)
c.4337G= (p.Arg1446=)
c.4217G= (p.Arg1406=)
c.4313G= (p.Arg1438=)
c.4259G= (p.Arg1420=)
c.4220G= (p.Arg1407=)
c.4169G= (p.Arg1390=)
c.1301G= (p.Arg434=)
18g.33744185G>TCA402190698ASXL3c.4340G>T (p.Arg1447Met)
c.4337G>T (p.Arg1446Met)
c.4217G>T (p.Arg1406Met)
c.4313G>T (p.Arg1438Met)
c.4259G>T (p.Arg1420Met)
c.4220G>T (p.Arg1407Met)
c.4169G>T (p.Arg1390Met)
c.1301G>T (p.Arg434Met)
18g.33744186G>ACA503770567ASXL3c.4341G>A (p.Arg1447=)
c.4338G>A (p.Arg1446=)
c.4218G>A (p.Arg1406=)
c.4314G>A (p.Arg1438=)
c.4260G>A (p.Arg1420=)
c.4221G>A (p.Arg1407=)
c.4170G>A (p.Arg1390=)
c.1302G>A (p.Arg434=)
 dbSNP gnomAD v2 gnomAD v4
18g.33744186G>CCA402190699ASXL3c.4341G>C (p.Arg1447Ser)
c.4338G>C (p.Arg1446Ser)
c.4218G>C (p.Arg1406Ser)
c.4314G>C (p.Arg1438Ser)
c.4260G>C (p.Arg1420Ser)
c.4221G>C (p.Arg1407Ser)
c.4170G>C (p.Arg1390Ser)
c.1302G>C (p.Arg434Ser)
18g.33744186G=CA2294858032ASXL3c.4341G= (p.Arg1447=)
c.4338G= (p.Arg1446=)
c.4218G= (p.Arg1406=)
c.4314G= (p.Arg1438=)
c.4260G= (p.Arg1420=)
c.4221G= (p.Arg1407=)
c.4170G= (p.Arg1390=)
c.1302G= (p.Arg434=)
18g.33744186G>TCA402190700ASXL3c.4341G>T (p.Arg1447Ser)
c.4338G>T (p.Arg1446Ser)
c.4218G>T (p.Arg1406Ser)
c.4314G>T (p.Arg1438Ser)
c.4260G>T (p.Arg1420Ser)
c.4221G>T (p.Arg1407Ser)
c.4170G>T (p.Arg1390Ser)
c.1302G>T (p.Arg434Ser)
 ClinVar dbSNP
18g.33744187G>ACA402190701ASXL3c.4342G>A (p.Ala1448Thr)
c.4339G>A (p.Ala1447Thr)
c.4219G>A (p.Ala1407Thr)
c.4315G>A (p.Ala1439Thr)
c.4261G>A (p.Ala1421Thr)
c.4222G>A (p.Ala1408Thr)
c.4171G>A (p.Ala1391Thr)
c.1303G>A (p.Ala435Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744187G>CCA402190702ASXL3c.4342G>C (p.Ala1448Pro)
c.4339G>C (p.Ala1447Pro)
c.4219G>C (p.Ala1407Pro)
c.4315G>C (p.Ala1439Pro)
c.4261G>C (p.Ala1421Pro)
c.4222G>C (p.Ala1408Pro)
c.4171G>C (p.Ala1391Pro)
c.1303G>C (p.Ala435Pro)
18g.33744187G=CA2294858033ASXL3c.4342G= (p.Ala1448=)
c.4339G= (p.Ala1447=)
c.4219G= (p.Ala1407=)
c.4315G= (p.Ala1439=)
c.4261G= (p.Ala1421=)
c.4222G= (p.Ala1408=)
c.4171G= (p.Ala1391=)
c.1303G= (p.Ala435=)
18g.33744187G>TCA8934242ASXL3c.4342G>T (p.Ala1448Ser)
c.4339G>T (p.Ala1447Ser)
c.4219G>T (p.Ala1407Ser)
c.4315G>T (p.Ala1439Ser)
c.4261G>T (p.Ala1421Ser)
c.4222G>T (p.Ala1408Ser)
c.4171G>T (p.Ala1391Ser)
c.1303G>T (p.Ala435Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744188C>ACA402190704ASXL3c.4343C>A (p.Ala1448Glu)
c.4340C>A (p.Ala1447Glu)
c.4220C>A (p.Ala1407Glu)
c.4316C>A (p.Ala1439Glu)
c.4262C>A (p.Ala1421Glu)
c.4223C>A (p.Ala1408Glu)
c.4172C>A (p.Ala1391Glu)
c.1304C>A (p.Ala435Glu)
18g.33744188C>GCA402190705ASXL3c.4343C>G (p.Ala1448Gly)
c.4340C>G (p.Ala1447Gly)
c.4220C>G (p.Ala1407Gly)
c.4316C>G (p.Ala1439Gly)
c.4262C>G (p.Ala1421Gly)
c.4223C>G (p.Ala1408Gly)
c.4172C>G (p.Ala1391Gly)
c.1304C>G (p.Ala435Gly)
18g.33744188C>TCA402190703ASXL3c.4343C>T (p.Ala1448Val)
c.4340C>T (p.Ala1447Val)
c.4220C>T (p.Ala1407Val)
c.4316C>T (p.Ala1439Val)
c.4262C>T (p.Ala1421Val)
c.4223C>T (p.Ala1408Val)
c.4172C>T (p.Ala1391Val)
c.1304C>T (p.Ala435Val)
18g.33744189A>CCA503770577ASXL3c.4344A>C (p.Ala1448=)
c.4341A>C (p.Ala1447=)
c.4221A>C (p.Ala1407=)
c.4317A>C (p.Ala1439=)
c.4263A>C (p.Ala1421=)
c.4224A>C (p.Ala1408=)
c.4173A>C (p.Ala1391=)
c.1305A>C (p.Ala435=)
18g.33744189A>GCA503770578ASXL3c.4344A>G (p.Ala1448=)
c.4341A>G (p.Ala1447=)
c.4221A>G (p.Ala1407=)
c.4317A>G (p.Ala1439=)
c.4263A>G (p.Ala1421=)
c.4224A>G (p.Ala1408=)
c.4173A>G (p.Ala1391=)
c.1305A>G (p.Ala435=)
 gnomAD v4
18g.33744189A>TCA503770579ASXL3c.4344A>T (p.Ala1448=)
c.4341A>T (p.Ala1447=)
c.4221A>T (p.Ala1407=)
c.4317A>T (p.Ala1439=)
c.4263A>T (p.Ala1421=)
c.4224A>T (p.Ala1408=)
c.4173A>T (p.Ala1391=)
c.1305A>T (p.Ala435=)
18g.33744190G>ACA8934243ASXL3c.4345G>A (p.Asp1449Asn)
c.4342G>A (p.Asp1448Asn)
c.4222G>A (p.Asp1408Asn)
c.4318G>A (p.Asp1440Asn)
c.4264G>A (p.Asp1422Asn)
c.4225G>A (p.Asp1409Asn)
c.4174G>A (p.Asp1392Asn)
c.1306G>A (p.Asp436Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744190G>CCA402190706ASXL3c.4345G>C (p.Asp1449His)
c.4342G>C (p.Asp1448His)
c.4222G>C (p.Asp1408His)
c.4318G>C (p.Asp1440His)
c.4264G>C (p.Asp1422His)
c.4225G>C (p.Asp1409His)
c.4174G>C (p.Asp1392His)
c.1306G>C (p.Asp436His)
18g.33744190G=CA2294858034ASXL3c.4345G= (p.Asp1449=)
c.4342G= (p.Asp1448=)
c.4222G= (p.Asp1408=)
c.4318G= (p.Asp1440=)
c.4264G= (p.Asp1422=)
c.4225G= (p.Asp1409=)
c.4174G= (p.Asp1392=)
c.1306G= (p.Asp436=)
18g.33744190G>TCA402190707ASXL3c.4345G>T (p.Asp1449Tyr)
c.4342G>T (p.Asp1448Tyr)
c.4222G>T (p.Asp1408Tyr)
c.4318G>T (p.Asp1440Tyr)
c.4264G>T (p.Asp1422Tyr)
c.4225G>T (p.Asp1409Tyr)
c.4174G>T (p.Asp1392Tyr)
c.1306G>T (p.Asp436Tyr)
18g.33744191A=CA2294858035ASXL3c.4346A= (p.Asp1449=)
c.4343A= (p.Asp1448=)
c.4223A= (p.Asp1408=)
c.4319A= (p.Asp1440=)
c.4265A= (p.Asp1422=)
c.4226A= (p.Asp1409=)
c.4175A= (p.Asp1392=)
c.1307A= (p.Asp436=)
18g.33744191A>CCA402190708ASXL3c.4346A>C (p.Asp1449Ala)
c.4343A>C (p.Asp1448Ala)
c.4223A>C (p.Asp1408Ala)
c.4319A>C (p.Asp1440Ala)
c.4265A>C (p.Asp1422Ala)
c.4226A>C (p.Asp1409Ala)
c.4175A>C (p.Asp1392Ala)
c.1307A>C (p.Asp436Ala)
18g.33744191A>GCA402190709ASXL3c.4346A>G (p.Asp1449Gly)
c.4343A>G (p.Asp1448Gly)
c.4223A>G (p.Asp1408Gly)
c.4319A>G (p.Asp1440Gly)
c.4265A>G (p.Asp1422Gly)
c.4226A>G (p.Asp1409Gly)
c.4175A>G (p.Asp1392Gly)
c.1307A>G (p.Asp436Gly)
 dbSNP gnomAD v4
18g.33744191A>TCA402190710ASXL3c.4346A>T (p.Asp1449Val)
c.4343A>T (p.Asp1448Val)
c.4223A>T (p.Asp1408Val)
c.4319A>T (p.Asp1440Val)
c.4265A>T (p.Asp1422Val)
c.4226A>T (p.Asp1409Val)
c.4175A>T (p.Asp1392Val)
c.1307A>T (p.Asp436Val)
18g.33744192T>ACA402190711ASXL3c.4347T>A (p.Asp1449Glu)
c.4344T>A (p.Asp1448Glu)
c.4224T>A (p.Asp1408Glu)
c.4320T>A (p.Asp1440Glu)
c.4266T>A (p.Asp1422Glu)
c.4227T>A (p.Asp1409Glu)
c.4176T>A (p.Asp1392Glu)
c.1308T>A (p.Asp436Glu)
 gnomAD v4
18g.33744192T>CCA503770583ASXL3c.4347T>C (p.Asp1449=)
c.4344T>C (p.Asp1448=)
c.4224T>C (p.Asp1408=)
c.4320T>C (p.Asp1440=)
c.4266T>C (p.Asp1422=)
c.4227T>C (p.Asp1409=)
c.4176T>C (p.Asp1392=)
c.1308T>C (p.Asp436=)
18g.33744192T>GCA402190712ASXL3c.4347T>G (p.Asp1449Glu)
c.4344T>G (p.Asp1448Glu)
c.4224T>G (p.Asp1408Glu)
c.4320T>G (p.Asp1440Glu)
c.4266T>G (p.Asp1422Glu)
c.4227T>G (p.Asp1409Glu)
c.4176T>G (p.Asp1392Glu)
c.1308T>G (p.Asp436Glu)
18g.33744193A=CA2294858036ASXL3c.4348A= (p.Asn1450=)
c.4345A= (p.Asn1449=)
c.4225A= (p.Asn1409=)
c.4321A= (p.Asn1441=)
c.4267A= (p.Asn1423=)
c.4228A= (p.Asn1410=)
c.4177A= (p.Asn1393=)
c.1309A= (p.Asn437=)
18g.33744193A>CCA402190713ASXL3c.4348A>C (p.Asn1450His)
c.4345A>C (p.Asn1449His)
c.4225A>C (p.Asn1409His)
c.4321A>C (p.Asn1441His)
c.4267A>C (p.Asn1423His)
c.4228A>C (p.Asn1410His)
c.4177A>C (p.Asn1393His)
c.1309A>C (p.Asn437His)
18g.33744193A>GCA402190714ASXL3c.4348A>G (p.Asn1450Asp)
c.4345A>G (p.Asn1449Asp)
c.4225A>G (p.Asn1409Asp)
c.4321A>G (p.Asn1441Asp)
c.4267A>G (p.Asn1423Asp)
c.4228A>G (p.Asn1410Asp)
c.4177A>G (p.Asn1393Asp)
c.1309A>G (p.Asn437Asp)
 dbSNP gnomAD v4
18g.33744193A>TCA402190715ASXL3c.4348A>T (p.Asn1450Tyr)
c.4345A>T (p.Asn1449Tyr)
c.4225A>T (p.Asn1409Tyr)
c.4321A>T (p.Asn1441Tyr)
c.4267A>T (p.Asn1423Tyr)
c.4228A>T (p.Asn1410Tyr)
c.4177A>T (p.Asn1393Tyr)
c.1309A>T (p.Asn437Tyr)
 COSMIC
18g.33744194A=CA2294858037ASXL3c.4349A= (p.Asn1450=)
c.4346A= (p.Asn1449=)
c.4226A= (p.Asn1409=)
c.4322A= (p.Asn1441=)
c.4268A= (p.Asn1423=)
c.4229A= (p.Asn1410=)
c.4178A= (p.Asn1393=)
c.1310A= (p.Asn437=)
18g.33744194A>CCA402190716ASXL3c.4349A>C (p.Asn1450Thr)
c.4346A>C (p.Asn1449Thr)
c.4226A>C (p.Asn1409Thr)
c.4322A>C (p.Asn1441Thr)
c.4268A>C (p.Asn1423Thr)
c.4229A>C (p.Asn1410Thr)
c.4178A>C (p.Asn1393Thr)
c.1310A>C (p.Asn437Thr)
18g.33744194A>GCA402190717ASXL3c.4349A>G (p.Asn1450Ser)
c.4346A>G (p.Asn1449Ser)
c.4226A>G (p.Asn1409Ser)
c.4322A>G (p.Asn1441Ser)
c.4268A>G (p.Asn1423Ser)
c.4229A>G (p.Asn1410Ser)
c.4178A>G (p.Asn1393Ser)
c.1310A>G (p.Asn437Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744194A>TCA402190718ASXL3c.4349A>T (p.Asn1450Ile)
c.4346A>T (p.Asn1449Ile)
c.4226A>T (p.Asn1409Ile)
c.4322A>T (p.Asn1441Ile)
c.4268A>T (p.Asn1423Ile)
c.4229A>T (p.Asn1410Ile)
c.4178A>T (p.Asn1393Ile)
c.1310A>T (p.Asn437Ile)
18g.33744195T>ACA402190719ASXL3c.4350T>A (p.Asn1450Lys)
c.4347T>A (p.Asn1449Lys)
c.4227T>A (p.Asn1409Lys)
c.4323T>A (p.Asn1441Lys)
c.4269T>A (p.Asn1423Lys)
c.4230T>A (p.Asn1410Lys)
c.4179T>A (p.Asn1393Lys)
c.1311T>A (p.Asn437Lys)
18g.33744195T>CCA503770593ASXL3c.4350T>C (p.Asn1450=)
c.4347T>C (p.Asn1449=)
c.4227T>C (p.Asn1409=)
c.4323T>C (p.Asn1441=)
c.4269T>C (p.Asn1423=)
c.4230T>C (p.Asn1410=)
c.4179T>C (p.Asn1393=)
c.1311T>C (p.Asn437=)
 gnomAD v4
18g.33744195T>GCA8934244ASXL3c.4350T>G (p.Asn1450Lys)
c.4347T>G (p.Asn1449Lys)
c.4227T>G (p.Asn1409Lys)
c.4323T>G (p.Asn1441Lys)
c.4269T>G (p.Asn1423Lys)
c.4230T>G (p.Asn1410Lys)
c.4179T>G (p.Asn1393Lys)
c.1311T>G (p.Asn437Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744195T=CA2294858038ASXL3c.4350T= (p.Asn1450=)
c.4347T= (p.Asn1449=)
c.4227T= (p.Asn1409=)
c.4323T= (p.Asn1441=)
c.4269T= (p.Asn1423=)
c.4230T= (p.Asn1410=)
c.4179T= (p.Asn1393=)
c.1311T= (p.Asn437=)
18g.33744196T>ACA402190720ASXL3c.4351T>A (p.Ser1451Thr)
c.4348T>A (p.Ser1450Thr)
c.4228T>A (p.Ser1410Thr)
c.4324T>A (p.Ser1442Thr)
c.4270T>A (p.Ser1424Thr)
c.4231T>A (p.Ser1411Thr)
c.4180T>A (p.Ser1394Thr)
c.1312T>A (p.Ser438Thr)
18g.33744196T>CCA402190721ASXL3c.4351T>C (p.Ser1451Pro)
c.4348T>C (p.Ser1450Pro)
c.4228T>C (p.Ser1410Pro)
c.4324T>C (p.Ser1442Pro)
c.4270T>C (p.Ser1424Pro)
c.4231T>C (p.Ser1411Pro)
c.4180T>C (p.Ser1394Pro)
c.1312T>C (p.Ser438Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.33744196T>GCA402190722ASXL3c.4351T>G (p.Ser1451Ala)
c.4348T>G (p.Ser1450Ala)
c.4228T>G (p.Ser1410Ala)
c.4324T>G (p.Ser1442Ala)
c.4270T>G (p.Ser1424Ala)
c.4231T>G (p.Ser1411Ala)
c.4180T>G (p.Ser1394Ala)
c.1312T>G (p.Ser438Ala)
 gnomAD v4
18g.33744196T=CA2294858039ASXL3c.4351T= (p.Ser1451=)
c.4348T= (p.Ser1450=)
c.4228T= (p.Ser1410=)
c.4324T= (p.Ser1442=)
c.4270T= (p.Ser1424=)
c.4231T= (p.Ser1411=)
c.4180T= (p.Ser1394=)
c.1312T= (p.Ser438=)
18g.33744197C>ACA402190723ASXL3c.4352C>A (p.Ser1451Tyr)
c.4349C>A (p.Ser1450Tyr)
c.4229C>A (p.Ser1410Tyr)
c.4325C>A (p.Ser1442Tyr)
c.4271C>A (p.Ser1424Tyr)
c.4232C>A (p.Ser1411Tyr)
c.4181C>A (p.Ser1394Tyr)
c.1313C>A (p.Ser438Tyr)
18g.33744197C=CA2294858040ASXL3c.4352C= (p.Ser1451=)
c.4349C= (p.Ser1450=)
c.4229C= (p.Ser1410=)
c.4325C= (p.Ser1442=)
c.4271C= (p.Ser1424=)
c.4232C= (p.Ser1411=)
c.4181C= (p.Ser1394=)
c.1313C= (p.Ser438=)
18g.33744197C>GCA402190724ASXL3c.4352C>G (p.Ser1451Cys)
c.4349C>G (p.Ser1450Cys)
c.4229C>G (p.Ser1410Cys)
c.4325C>G (p.Ser1442Cys)
c.4271C>G (p.Ser1424Cys)
c.4232C>G (p.Ser1411Cys)
c.4181C>G (p.Ser1394Cys)
c.1313C>G (p.Ser438Cys)
 dbSNP
18g.33744197C>TCA402190725ASXL3c.4352C>T (p.Ser1451Phe)
c.4349C>T (p.Ser1450Phe)
c.4229C>T (p.Ser1410Phe)
c.4325C>T (p.Ser1442Phe)
c.4271C>T (p.Ser1424Phe)
c.4232C>T (p.Ser1411Phe)
c.4181C>T (p.Ser1394Phe)
c.1313C>T (p.Ser438Phe)
18g.33744198T>ACA503770597ASXL3c.4353T>A (p.Ser1451=)
c.4350T>A (p.Ser1450=)
c.4230T>A (p.Ser1410=)
c.4326T>A (p.Ser1442=)
c.4272T>A (p.Ser1424=)
c.4233T>A (p.Ser1411=)
c.4182T>A (p.Ser1394=)
c.1314T>A (p.Ser438=)
18g.33744198T>CCA503770598ASXL3c.4353T>C (p.Ser1451=)
c.4350T>C (p.Ser1450=)
c.4230T>C (p.Ser1410=)
c.4326T>C (p.Ser1442=)
c.4272T>C (p.Ser1424=)
c.4233T>C (p.Ser1411=)
c.4182T>C (p.Ser1394=)
c.1314T>C (p.Ser438=)
18g.33744198T>GCA503770599ASXL3c.4353T>G (p.Ser1451=)
c.4350T>G (p.Ser1450=)
c.4230T>G (p.Ser1410=)
c.4326T>G (p.Ser1442=)
c.4272T>G (p.Ser1424=)
c.4233T>G (p.Ser1411=)
c.4182T>G (p.Ser1394=)
c.1314T>G (p.Ser438=)
18g.33744199G>ACA402190728ASXL3c.4354G>A (p.Gly1452Arg)
c.4351G>A (p.Gly1451Arg)
c.4231G>A (p.Gly1411Arg)
c.4327G>A (p.Gly1443Arg)
c.4273G>A (p.Gly1425Arg)
c.4234G>A (p.Gly1412Arg)
c.4183G>A (p.Gly1395Arg)
c.1315G>A (p.Gly439Arg)
18g.33744199G>CCA402190727ASXL3c.4354G>C (p.Gly1452Arg)
c.4351G>C (p.Gly1451Arg)
c.4231G>C (p.Gly1411Arg)
c.4327G>C (p.Gly1443Arg)
c.4273G>C (p.Gly1425Arg)
c.4234G>C (p.Gly1412Arg)
c.4183G>C (p.Gly1395Arg)
c.1315G>C (p.Gly439Arg)
18g.33744199G>TCA402190726ASXL3c.4354G>T (p.Gly1452Ter)
c.4351G>T (p.Gly1451Ter)
c.4231G>T (p.Gly1411Ter)
c.4327G>T (p.Gly1443Ter)
c.4273G>T (p.Gly1425Ter)
c.4234G>T (p.Gly1412Ter)
c.4183G>T (p.Gly1395Ter)
c.1315G>T (p.Gly439Ter)
18g.33744200G>ACA402190729ASXL3c.4355G>A (p.Gly1452Glu)
c.4352G>A (p.Gly1451Glu)
c.4232G>A (p.Gly1411Glu)
c.4328G>A (p.Gly1443Glu)
c.4274G>A (p.Gly1425Glu)
c.4235G>A (p.Gly1412Glu)
c.4184G>A (p.Gly1395Glu)
c.1316G>A (p.Gly439Glu)
18g.33744200G>CCA402190730ASXL3c.4355G>C (p.Gly1452Ala)
c.4352G>C (p.Gly1451Ala)
c.4232G>C (p.Gly1411Ala)
c.4328G>C (p.Gly1443Ala)
c.4274G>C (p.Gly1425Ala)
c.4235G>C (p.Gly1412Ala)
c.4184G>C (p.Gly1395Ala)
c.1316G>C (p.Gly439Ala)
18g.33744200G>TCA402190731ASXL3c.4355G>T (p.Gly1452Val)
c.4352G>T (p.Gly1451Val)
c.4232G>T (p.Gly1411Val)
c.4328G>T (p.Gly1443Val)
c.4274G>T (p.Gly1425Val)
c.4235G>T (p.Gly1412Val)
c.4184G>T (p.Gly1395Val)
c.1316G>T (p.Gly439Val)
18g.33744201A>CCA503770608ASXL3c.4356A>C (p.Gly1452=)
c.4353A>C (p.Gly1451=)
c.4233A>C (p.Gly1411=)
c.4329A>C (p.Gly1443=)
c.4275A>C (p.Gly1425=)
c.4236A>C (p.Gly1412=)
c.4185A>C (p.Gly1395=)
c.1317A>C (p.Gly439=)
18g.33744201A>GCA503770604ASXL3c.4356A>G (p.Gly1452=)
c.4353A>G (p.Gly1451=)
c.4233A>G (p.Gly1411=)
c.4329A>G (p.Gly1443=)
c.4275A>G (p.Gly1425=)
c.4236A>G (p.Gly1412=)
c.4185A>G (p.Gly1395=)
c.1317A>G (p.Gly439=)
18g.33744201A>TCA503770606ASXL3c.4356A>T (p.Gly1452=)
c.4353A>T (p.Gly1451=)
c.4233A>T (p.Gly1411=)
c.4329A>T (p.Gly1443=)
c.4275A>T (p.Gly1425=)
c.4236A>T (p.Gly1412=)
c.4185A>T (p.Gly1395=)
c.1317A>T (p.Gly439=)
18g.33744204delCA2580095668ASXL3c.4359del (p.Lys1453AsnfsTer14)
c.4356del (p.Lys1452AsnfsTer14)
c.4236del (p.Lys1412AsnfsTer14)
c.4332del (p.Lys1444AsnfsTer14)
c.4278del (p.Lys1426AsnfsTer14)
c.4239del (p.Lys1413AsnfsTer14)
c.4188del (p.Lys1396AsnfsTer14)
c.1320del (p.Lys440AsnfsTer14)
 ClinVar
18g.33744202A>CCA402190732ASXL3c.4357A>C (p.Lys1453Gln)
c.4354A>C (p.Lys1452Gln)
c.4234A>C (p.Lys1412Gln)
c.4330A>C (p.Lys1444Gln)
c.4276A>C (p.Lys1426Gln)
c.4237A>C (p.Lys1413Gln)
c.4186A>C (p.Lys1396Gln)
c.1318A>C (p.Lys440Gln)
18g.33744202A>GCA402190733ASXL3c.4357A>G (p.Lys1453Glu)
c.4354A>G (p.Lys1452Glu)
c.4234A>G (p.Lys1412Glu)
c.4330A>G (p.Lys1444Glu)
c.4276A>G (p.Lys1426Glu)
c.4237A>G (p.Lys1413Glu)
c.4186A>G (p.Lys1396Glu)
c.1318A>G (p.Lys440Glu)
18g.33744202A>TCA402190734ASXL3c.4357A>T (p.Lys1453Ter)
c.4354A>T (p.Lys1452Ter)
c.4234A>T (p.Lys1412Ter)
c.4330A>T (p.Lys1444Ter)
c.4276A>T (p.Lys1426Ter)
c.4237A>T (p.Lys1413Ter)
c.4186A>T (p.Lys1396Ter)
c.1318A>T (p.Lys440Ter)
18g.33744203A>CCA402190735ASXL3c.4358A>C (p.Lys1453Thr)
c.4355A>C (p.Lys1452Thr)
c.4235A>C (p.Lys1412Thr)
c.4331A>C (p.Lys1444Thr)
c.4277A>C (p.Lys1426Thr)
c.4238A>C (p.Lys1413Thr)
c.4187A>C (p.Lys1396Thr)
c.1319A>C (p.Lys440Thr)
 gnomAD v4
18g.33744203A>GCA402190737ASXL3c.4358A>G (p.Lys1453Arg)
c.4355A>G (p.Lys1452Arg)
c.4235A>G (p.Lys1412Arg)
c.4331A>G (p.Lys1444Arg)
c.4277A>G (p.Lys1426Arg)
c.4238A>G (p.Lys1413Arg)
c.4187A>G (p.Lys1396Arg)
c.1319A>G (p.Lys440Arg)
18g.33744203A>TCA402190736ASXL3c.4358A>T (p.Lys1453Ile)
c.4355A>T (p.Lys1452Ile)
c.4235A>T (p.Lys1412Ile)
c.4331A>T (p.Lys1444Ile)
c.4277A>T (p.Lys1426Ile)
c.4238A>T (p.Lys1413Ile)
c.4187A>T (p.Lys1396Ile)
c.1319A>T (p.Lys440Ile)
18g.33744204A>CCA402190738ASXL3c.4359A>C (p.Lys1453Asn)
c.4356A>C (p.Lys1452Asn)
c.4236A>C (p.Lys1412Asn)
c.4332A>C (p.Lys1444Asn)
c.4278A>C (p.Lys1426Asn)
c.4239A>C (p.Lys1413Asn)
c.4188A>C (p.Lys1396Asn)
c.1320A>C (p.Lys440Asn)
 gnomAD v4
18g.33744204A>GCA503770612ASXL3c.4359A>G (p.Lys1453=)
c.4356A>G (p.Lys1452=)
c.4236A>G (p.Lys1412=)
c.4332A>G (p.Lys1444=)
c.4278A>G (p.Lys1426=)
c.4239A>G (p.Lys1413=)
c.4188A>G (p.Lys1396=)
c.1320A>G (p.Lys440=)
18g.33744204A>TCA402190739ASXL3c.4359A>T (p.Lys1453Asn)
c.4356A>T (p.Lys1452Asn)
c.4236A>T (p.Lys1412Asn)
c.4332A>T (p.Lys1444Asn)
c.4278A>T (p.Lys1426Asn)
c.4239A>T (p.Lys1413Asn)
c.4188A>T (p.Lys1396Asn)
c.1320A>T (p.Lys440Asn)
18g.33744205C>ACA402190740ASXL3c.4360C>A (p.Pro1454Thr)
c.4357C>A (p.Pro1453Thr)
c.4237C>A (p.Pro1413Thr)
c.4333C>A (p.Pro1445Thr)
c.4279C>A (p.Pro1427Thr)
c.4240C>A (p.Pro1414Thr)
c.4189C>A (p.Pro1397Thr)
c.1321C>A (p.Pro441Thr)
18g.33744205C=CA2294858041ASXL3c.4360C= (p.Pro1454=)
c.4357C= (p.Pro1453=)
c.4237C= (p.Pro1413=)
c.4333C= (p.Pro1445=)
c.4279C= (p.Pro1427=)
c.4240C= (p.Pro1414=)
c.4189C= (p.Pro1397=)
c.1321C= (p.Pro441=)
18g.33744205C>GCA402190741ASXL3c.4360C>G (p.Pro1454Ala)
c.4357C>G (p.Pro1453Ala)
c.4237C>G (p.Pro1413Ala)
c.4333C>G (p.Pro1445Ala)
c.4279C>G (p.Pro1427Ala)
c.4240C>G (p.Pro1414Ala)
c.4189C>G (p.Pro1397Ala)
c.1321C>G (p.Pro441Ala)
18g.33744205C>TCA402190742ASXL3c.4360C>T (p.Pro1454Ser)
c.4357C>T (p.Pro1453Ser)
c.4237C>T (p.Pro1413Ser)
c.4333C>T (p.Pro1445Ser)
c.4279C>T (p.Pro1427Ser)
c.4240C>T (p.Pro1414Ser)
c.4189C>T (p.Pro1397Ser)
c.1321C>T (p.Pro441Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744206C>ACA402190743ASXL3c.4361C>A (p.Pro1454His)
c.4358C>A (p.Pro1453His)
c.4238C>A (p.Pro1413His)
c.4334C>A (p.Pro1445His)
c.4280C>A (p.Pro1427His)
c.4241C>A (p.Pro1414His)
c.4190C>A (p.Pro1397His)
c.1322C>A (p.Pro441His)
18g.33744206C>GCA402190744ASXL3c.4361C>G (p.Pro1454Arg)
c.4358C>G (p.Pro1453Arg)
c.4238C>G (p.Pro1413Arg)
c.4334C>G (p.Pro1445Arg)
c.4280C>G (p.Pro1427Arg)
c.4241C>G (p.Pro1414Arg)
c.4190C>G (p.Pro1397Arg)
c.1322C>G (p.Pro441Arg)
18g.33744206C>TCA402190745ASXL3c.4361C>T (p.Pro1454Leu)
c.4358C>T (p.Pro1453Leu)
c.4238C>T (p.Pro1413Leu)
c.4334C>T (p.Pro1445Leu)
c.4280C>T (p.Pro1427Leu)
c.4241C>T (p.Pro1414Leu)
c.4190C>T (p.Pro1397Leu)
c.1322C>T (p.Pro441Leu)
18g.33744207T>ACA503770623ASXL3c.4362T>A (p.Pro1454=)
c.4359T>A (p.Pro1453=)
c.4239T>A (p.Pro1413=)
c.4335T>A (p.Pro1445=)
c.4281T>A (p.Pro1427=)
c.4242T>A (p.Pro1414=)
c.4191T>A (p.Pro1397=)
c.1323T>A (p.Pro441=)
18g.33744207T>CCA503770626ASXL3c.4362T>C (p.Pro1454=)
c.4359T>C (p.Pro1453=)
c.4239T>C (p.Pro1413=)
c.4335T>C (p.Pro1445=)
c.4281T>C (p.Pro1427=)
c.4242T>C (p.Pro1414=)
c.4191T>C (p.Pro1397=)
c.1323T>C (p.Pro441=)
18g.33744207T>GCA8934245ASXL3c.4362T>G (p.Pro1454=)
c.4359T>G (p.Pro1453=)
c.4239T>G (p.Pro1413=)
c.4335T>G (p.Pro1445=)
c.4281T>G (p.Pro1427=)
c.4242T>G (p.Pro1414=)
c.4191T>G (p.Pro1397=)
c.1323T>G (p.Pro441=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744207T=CA2294858042ASXL3c.4362T= (p.Pro1454=)
c.4359T= (p.Pro1453=)
c.4239T= (p.Pro1413=)
c.4335T= (p.Pro1445=)
c.4281T= (p.Pro1427=)
c.4242T= (p.Pro1414=)
c.4191T= (p.Pro1397=)
c.1323T= (p.Pro441=)
18g.33744208C>ACA402190746ASXL3c.4363C>A (p.Gln1455Lys)
c.4360C>A (p.Gln1454Lys)
c.4240C>A (p.Gln1414Lys)
c.4336C>A (p.Gln1446Lys)
c.4282C>A (p.Gln1428Lys)
c.4243C>A (p.Gln1415Lys)
c.4192C>A (p.Gln1398Lys)
c.1324C>A (p.Gln442Lys)
18g.33744208C=CA2294858043ASXL3c.4363C= (p.Gln1455=)
c.4360C= (p.Gln1454=)
c.4240C= (p.Gln1414=)
c.4336C= (p.Gln1446=)
c.4282C= (p.Gln1428=)
c.4243C= (p.Gln1415=)
c.4192C= (p.Gln1398=)
c.1324C= (p.Gln442=)
18g.33744208C>GCA402190747ASXL3c.4363C>G (p.Gln1455Glu)
c.4360C>G (p.Gln1454Glu)
c.4240C>G (p.Gln1414Glu)
c.4336C>G (p.Gln1446Glu)
c.4282C>G (p.Gln1428Glu)
c.4243C>G (p.Gln1415Glu)
c.4192C>G (p.Gln1398Glu)
c.1324C>G (p.Gln442Glu)
18g.33744208C>TCA16620687ASXL3c.4363C>T (p.Gln1455Ter)
c.4360C>T (p.Gln1454Ter)
c.4240C>T (p.Gln1414Ter)
c.4336C>T (p.Gln1446Ter)
c.4282C>T (p.Gln1428Ter)
c.4243C>T (p.Gln1415Ter)
c.4192C>T (p.Gln1398Ter)
c.1324C>T (p.Gln442Ter)
 ClinVar dbSNP
18g.33744209A>CCA402190749ASXL3c.4364A>C (p.Gln1455Pro)
c.4361A>C (p.Gln1454Pro)
c.4241A>C (p.Gln1414Pro)
c.4337A>C (p.Gln1446Pro)
c.4283A>C (p.Gln1428Pro)
c.4244A>C (p.Gln1415Pro)
c.4193A>C (p.Gln1398Pro)
c.1325A>C (p.Gln442Pro)
18g.33744209A>GCA402190750ASXL3c.4364A>G (p.Gln1455Arg)
c.4361A>G (p.Gln1454Arg)
c.4241A>G (p.Gln1414Arg)
c.4337A>G (p.Gln1446Arg)
c.4283A>G (p.Gln1428Arg)
c.4244A>G (p.Gln1415Arg)
c.4193A>G (p.Gln1398Arg)
c.1325A>G (p.Gln442Arg)
18g.33744209A>TCA402190748ASXL3c.4364A>T (p.Gln1455Leu)
c.4361A>T (p.Gln1454Leu)
c.4241A>T (p.Gln1414Leu)
c.4337A>T (p.Gln1446Leu)
c.4283A>T (p.Gln1428Leu)
c.4244A>T (p.Gln1415Leu)
c.4193A>T (p.Gln1398Leu)
c.1325A>T (p.Gln442Leu)
18g.33744210G>ACA503770630ASXL3c.4365G>A (p.Gln1455=)
c.4362G>A (p.Gln1454=)
c.4242G>A (p.Gln1414=)
c.4338G>A (p.Gln1446=)
c.4284G>A (p.Gln1428=)
c.4245G>A (p.Gln1415=)
c.4194G>A (p.Gln1398=)
c.1326G>A (p.Gln442=)
 gnomAD v4
18g.33744210G>CCA402190751ASXL3c.4365G>C (p.Gln1455His)
c.4362G>C (p.Gln1454His)
c.4242G>C (p.Gln1414His)
c.4338G>C (p.Gln1446His)
c.4284G>C (p.Gln1428His)
c.4245G>C (p.Gln1415His)
c.4194G>C (p.Gln1398His)
c.1326G>C (p.Gln442His)
18g.33744210G>TCA402190752ASXL3c.4365G>T (p.Gln1455His)
c.4362G>T (p.Gln1454His)
c.4242G>T (p.Gln1414His)
c.4338G>T (p.Gln1446His)
c.4284G>T (p.Gln1428His)
c.4245G>T (p.Gln1415His)
c.4194G>T (p.Gln1398His)
c.1326G>T (p.Gln442His)
18g.33744211C>ACA402190753ASXL3c.4366C>A (p.Gln1456Lys)
c.4363C>A (p.Gln1455Lys)
c.4243C>A (p.Gln1415Lys)
c.4339C>A (p.Gln1447Lys)
c.4285C>A (p.Gln1429Lys)
c.4246C>A (p.Gln1416Lys)
c.4195C>A (p.Gln1399Lys)
c.1327C>A (p.Gln443Lys)
18g.33744211C>GCA402190754ASXL3c.4366C>G (p.Gln1456Glu)
c.4363C>G (p.Gln1455Glu)
c.4243C>G (p.Gln1415Glu)
c.4339C>G (p.Gln1447Glu)
c.4285C>G (p.Gln1429Glu)
c.4246C>G (p.Gln1416Glu)
c.4195C>G (p.Gln1399Glu)
c.1327C>G (p.Gln443Glu)
18g.33744211C>TCA402190755ASXL3c.4366C>T (p.Gln1456Ter)
c.4363C>T (p.Gln1455Ter)
c.4243C>T (p.Gln1415Ter)
c.4339C>T (p.Gln1447Ter)
c.4285C>T (p.Gln1429Ter)
c.4246C>T (p.Gln1416Ter)
c.4195C>T (p.Gln1399Ter)
c.1327C>T (p.Gln443Ter)
18g.33744212A>CCA402190758ASXL3c.4367A>C (p.Gln1456Pro)
c.4364A>C (p.Gln1455Pro)
c.4244A>C (p.Gln1415Pro)
c.4340A>C (p.Gln1447Pro)
c.4286A>C (p.Gln1429Pro)
c.4247A>C (p.Gln1416Pro)
c.4196A>C (p.Gln1399Pro)
c.1328A>C (p.Gln443Pro)
18g.33744212A>GCA402190756ASXL3c.4367A>G (p.Gln1456Arg)
c.4364A>G (p.Gln1455Arg)
c.4244A>G (p.Gln1415Arg)
c.4340A>G (p.Gln1447Arg)
c.4286A>G (p.Gln1429Arg)
c.4247A>G (p.Gln1416Arg)
c.4196A>G (p.Gln1399Arg)
c.1328A>G (p.Gln443Arg)
18g.33744212A>TCA402190757ASXL3c.4367A>T (p.Gln1456Leu)
c.4364A>T (p.Gln1455Leu)
c.4244A>T (p.Gln1415Leu)
c.4340A>T (p.Gln1447Leu)
c.4286A>T (p.Gln1429Leu)
c.4247A>T (p.Gln1416Leu)
c.4196A>T (p.Gln1399Leu)
c.1328A>T (p.Gln443Leu)
18g.33744213A>CCA402190759ASXL3c.4368A>C (p.Gln1456His)
c.4365A>C (p.Gln1455His)
c.4245A>C (p.Gln1415His)
c.4341A>C (p.Gln1447His)
c.4287A>C (p.Gln1429His)
c.4248A>C (p.Gln1416His)
c.4197A>C (p.Gln1399His)
c.1329A>C (p.Gln443His)
18g.33744213A>GCA503770639ASXL3c.4368A>G (p.Gln1456=)
c.4365A>G (p.Gln1455=)
c.4245A>G (p.Gln1415=)
c.4341A>G (p.Gln1447=)
c.4287A>G (p.Gln1429=)
c.4248A>G (p.Gln1416=)
c.4197A>G (p.Gln1399=)
c.1329A>G (p.Gln443=)
18g.33744213A>TCA402190760ASXL3c.4368A>T (p.Gln1456His)
c.4365A>T (p.Gln1455His)
c.4245A>T (p.Gln1415His)
c.4341A>T (p.Gln1447His)
c.4287A>T (p.Gln1429His)
c.4248A>T (p.Gln1416His)
c.4197A>T (p.Gln1399His)
c.1329A>T (p.Gln443His)
18g.33744214C>ACA402190761ASXL3c.4369C>A (p.Pro1457Thr)
c.4366C>A (p.Pro1456Thr)
c.4246C>A (p.Pro1416Thr)
c.4342C>A (p.Pro1448Thr)
c.4288C>A (p.Pro1430Thr)
c.4249C>A (p.Pro1417Thr)
c.4198C>A (p.Pro1400Thr)
c.1330C>A (p.Pro444Thr)
18g.33744214C=CA2294858044ASXL3c.4369C= (p.Pro1457=)
c.4366C= (p.Pro1456=)
c.4246C= (p.Pro1416=)
c.4342C= (p.Pro1448=)
c.4288C= (p.Pro1430=)
c.4249C= (p.Pro1417=)
c.4198C= (p.Pro1400=)
c.1330C= (p.Pro444=)
18g.33744214C>GCA8934246ASXL3c.4369C>G (p.Pro1457Ala)
c.4366C>G (p.Pro1456Ala)
c.4246C>G (p.Pro1416Ala)
c.4342C>G (p.Pro1448Ala)
c.4288C>G (p.Pro1430Ala)
c.4249C>G (p.Pro1417Ala)
c.4198C>G (p.Pro1400Ala)
c.1330C>G (p.Pro444Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744214C>TCA402190762ASXL3c.4369C>T (p.Pro1457Ser)
c.4366C>T (p.Pro1456Ser)
c.4246C>T (p.Pro1416Ser)
c.4342C>T (p.Pro1448Ser)
c.4288C>T (p.Pro1430Ser)
c.4249C>T (p.Pro1417Ser)
c.4198C>T (p.Pro1400Ser)
c.1330C>T (p.Pro444Ser)
18g.33744214_33744229delinsCCACCAGGGGGCTTTGCA2294858045ASXL3c.4369_4384delinsCCACCAGGGGGCTTTG (p.Pro1457=)
c.4366_4381delinsCCACCAGGGGGCTTTG (p.Pro1456=)
c.4246_4261delinsCCACCAGGGGGCTTTG (p.Pro1416=)
c.4342_4357delinsCCACCAGGGGGCTTTG (p.Pro1448=)
c.4288_4303delinsCCACCAGGGGGCTTTG (p.Pro1430=)
c.4249_4264delinsCCACCAGGGGGCTTTG (p.Pro1417=)
c.4198_4213delinsCCACCAGGGGGCTTTG (p.Pro1400=)
c.1330_1345delinsCCACCAGGGGGCTTTG (p.Pro444=)
18g.33744215C>ACA402190763ASXL3c.4370C>A (p.Pro1457Gln)
c.4367C>A (p.Pro1456Gln)
c.4247C>A (p.Pro1416Gln)
c.4343C>A (p.Pro1448Gln)
c.4289C>A (p.Pro1430Gln)
c.4250C>A (p.Pro1417Gln)
c.4199C>A (p.Pro1400Gln)
c.1331C>A (p.Pro444Gln)
18g.33744215C>GCA402190764ASXL3c.4370C>G (p.Pro1457Arg)
c.4367C>G (p.Pro1456Arg)
c.4247C>G (p.Pro1416Arg)
c.4343C>G (p.Pro1448Arg)
c.4289C>G (p.Pro1430Arg)
c.4250C>G (p.Pro1417Arg)
c.4199C>G (p.Pro1400Arg)
c.1331C>G (p.Pro444Arg)
18g.33744215C>TCA402190765ASXL3c.4370C>T (p.Pro1457Leu)
c.4367C>T (p.Pro1456Leu)
c.4247C>T (p.Pro1416Leu)
c.4343C>T (p.Pro1448Leu)
c.4289C>T (p.Pro1430Leu)
c.4250C>T (p.Pro1417Leu)
c.4199C>T (p.Pro1400Leu)
c.1331C>T (p.Pro444Leu)
 ClinVar dbSNP gnomAD v4
18g.33744221_33744235delCA8934247ASXL3c.4376_4390del (p.Gly1459_Pro1463del)
c.4373_4387del (p.Gly1458_Pro1462del)
c.4253_4267del (p.Gly1418_Pro1422del)
c.4349_4363del (p.Gly1450_Pro1454del)
c.4295_4309del (p.Gly1432_Pro1436del)
c.4256_4270del (p.Gly1419_Pro1423del)
c.4205_4219del (p.Gly1402_Pro1406del)
c.1337_1351del (p.Gly446_Pro450del)
 dbSNP ExAC gnomAD v4
18g.33744216A>CCA503770068ASXL3c.4371A>C (p.Pro1457=)
c.4368A>C (p.Pro1456=)
c.4248A>C (p.Pro1416=)
c.4344A>C (p.Pro1448=)
c.4290A>C (p.Pro1430=)
c.4251A>C (p.Pro1417=)
c.4200A>C (p.Pro1400=)
c.1332A>C (p.Pro444=)
18g.33744216A>GCA503770097ASXL3c.4371A>G (p.Pro1457=)
c.4368A>G (p.Pro1456=)
c.4248A>G (p.Pro1416=)
c.4344A>G (p.Pro1448=)
c.4290A>G (p.Pro1430=)
c.4251A>G (p.Pro1417=)
c.4200A>G (p.Pro1400=)
c.1332A>G (p.Pro444=)
18g.33744216A>TCA503770064ASXL3c.4371A>T (p.Pro1457=)
c.4368A>T (p.Pro1456=)
c.4248A>T (p.Pro1416=)
c.4344A>T (p.Pro1448=)
c.4290A>T (p.Pro1430=)
c.4251A>T (p.Pro1417=)
c.4200A>T (p.Pro1400=)
c.1332A>T (p.Pro444=)
18g.33744217C>ACA402190768ASXL3c.4372C>A (p.Pro1458Thr)
c.4369C>A (p.Pro1457Thr)
c.4249C>A (p.Pro1417Thr)
c.4345C>A (p.Pro1449Thr)
c.4291C>A (p.Pro1431Thr)
c.4252C>A (p.Pro1418Thr)
c.4201C>A (p.Pro1401Thr)
c.1333C>A (p.Pro445Thr)
18g.33744217C>GCA402190766ASXL3c.4372C>G (p.Pro1458Ala)
c.4369C>G (p.Pro1457Ala)
c.4249C>G (p.Pro1417Ala)
c.4345C>G (p.Pro1449Ala)
c.4291C>G (p.Pro1431Ala)
c.4252C>G (p.Pro1418Ala)
c.4201C>G (p.Pro1401Ala)
c.1333C>G (p.Pro445Ala)
 gnomAD v4
18g.33744217C>TCA402190767ASXL3c.4372C>T (p.Pro1458Ser)
c.4369C>T (p.Pro1457Ser)
c.4249C>T (p.Pro1417Ser)
c.4345C>T (p.Pro1449Ser)
c.4291C>T (p.Pro1431Ser)
c.4252C>T (p.Pro1418Ser)
c.4201C>T (p.Pro1401Ser)
c.1333C>T (p.Pro445Ser)

Number of alleles fetched