Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744077A>CCA402190473ASXL3c.4232A>C (p.His1411Pro)
c.4229A>C (p.His1410Pro)
c.4109A>C (p.His1370Pro)
c.4205A>C (p.His1402Pro)
c.4151A>C (p.His1384Pro)
c.4112A>C (p.His1371Pro)
c.4061A>C (p.His1354Pro)
c.1193A>C (p.His398Pro)
18g.33744077A>GCA402190472ASXL3c.4232A>G (p.His1411Arg)
c.4229A>G (p.His1410Arg)
c.4109A>G (p.His1370Arg)
c.4205A>G (p.His1402Arg)
c.4151A>G (p.His1384Arg)
c.4112A>G (p.His1371Arg)
c.4061A>G (p.His1354Arg)
c.1193A>G (p.His398Arg)
18g.33744077A>TCA402190471ASXL3c.4232A>T (p.His1411Leu)
c.4229A>T (p.His1410Leu)
c.4109A>T (p.His1370Leu)
c.4205A>T (p.His1402Leu)
c.4151A>T (p.His1384Leu)
c.4112A>T (p.His1371Leu)
c.4061A>T (p.His1354Leu)
c.1193A>T (p.His398Leu)
18g.33744078C>ACA402190474ASXL3c.4233C>A (p.His1411Gln)
c.4230C>A (p.His1410Gln)
c.4110C>A (p.His1370Gln)
c.4206C>A (p.His1402Gln)
c.4152C>A (p.His1384Gln)
c.4113C>A (p.His1371Gln)
c.4062C>A (p.His1354Gln)
c.1194C>A (p.His398Gln)
gnomAD v4 COSMIC
18g.33744078C>GCA402190475ASXL3c.4233C>G (p.His1411Gln)
c.4230C>G (p.His1410Gln)
c.4110C>G (p.His1370Gln)
c.4206C>G (p.His1402Gln)
c.4152C>G (p.His1384Gln)
c.4113C>G (p.His1371Gln)
c.4062C>G (p.His1354Gln)
c.1194C>G (p.His398Gln)
18g.33744078C>TCA503770286ASXL3c.4233C>T (p.His1411=)
c.4230C>T (p.His1410=)
c.4110C>T (p.His1370=)
c.4206C>T (p.His1402=)
c.4152C>T (p.His1384=)
c.4113C>T (p.His1371=)
c.4062C>T (p.His1354=)
c.1194C>T (p.His398=)
18g.33744079C>ACA402190476ASXL3c.4234C>A (p.Pro1412Thr)
c.4231C>A (p.Pro1411Thr)
c.4111C>A (p.Pro1371Thr)
c.4207C>A (p.Pro1403Thr)
c.4153C>A (p.Pro1385Thr)
c.4114C>A (p.Pro1372Thr)
c.4063C>A (p.Pro1355Thr)
c.1195C>A (p.Pro399Thr)
18g.33744079C>GCA402190477ASXL3c.4234C>G (p.Pro1412Ala)
c.4231C>G (p.Pro1411Ala)
c.4111C>G (p.Pro1371Ala)
c.4207C>G (p.Pro1403Ala)
c.4153C>G (p.Pro1385Ala)
c.4114C>G (p.Pro1372Ala)
c.4063C>G (p.Pro1355Ala)
c.1195C>G (p.Pro399Ala)
18g.33744079C>TCA402190478ASXL3c.4234C>T (p.Pro1412Ser)
c.4231C>T (p.Pro1411Ser)
c.4111C>T (p.Pro1371Ser)
c.4207C>T (p.Pro1403Ser)
c.4153C>T (p.Pro1385Ser)
c.4114C>T (p.Pro1372Ser)
c.4063C>T (p.Pro1355Ser)
c.1195C>T (p.Pro399Ser)
18g.33744080C>ACA402190479ASXL3c.4235C>A (p.Pro1412Gln)
c.4232C>A (p.Pro1411Gln)
c.4112C>A (p.Pro1371Gln)
c.4208C>A (p.Pro1403Gln)
c.4154C>A (p.Pro1385Gln)
c.4115C>A (p.Pro1372Gln)
c.4064C>A (p.Pro1355Gln)
c.1196C>A (p.Pro399Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744080C=CA2294857981ASXL3c.4235C= (p.Pro1412=)
c.4232C= (p.Pro1411=)
c.4112C= (p.Pro1371=)
c.4208C= (p.Pro1403=)
c.4154C= (p.Pro1385=)
c.4115C= (p.Pro1372=)
c.4064C= (p.Pro1355=)
c.1196C= (p.Pro399=)
18g.33744080C>GCA402190480ASXL3c.4235C>G (p.Pro1412Arg)
c.4232C>G (p.Pro1411Arg)
c.4112C>G (p.Pro1371Arg)
c.4208C>G (p.Pro1403Arg)
c.4154C>G (p.Pro1385Arg)
c.4115C>G (p.Pro1372Arg)
c.4064C>G (p.Pro1355Arg)
c.1196C>G (p.Pro399Arg)
dbSNP gnomAD v3 gnomAD v4
18g.33744080C>TCA8934206ASXL3c.4235C>T (p.Pro1412Leu)
c.4232C>T (p.Pro1411Leu)
c.4112C>T (p.Pro1371Leu)
c.4208C>T (p.Pro1403Leu)
c.4154C>T (p.Pro1385Leu)
c.4115C>T (p.Pro1372Leu)
c.4064C>T (p.Pro1355Leu)
c.1196C>T (p.Pro399Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.33744081G>ACA8934207ASXL3c.4236G>A (p.Pro1412=)
c.4233G>A (p.Pro1411=)
c.4113G>A (p.Pro1371=)
c.4209G>A (p.Pro1403=)
c.4155G>A (p.Pro1385=)
c.4116G>A (p.Pro1372=)
c.4065G>A (p.Pro1355=)
c.1197G>A (p.Pro399=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744081G>CCA503770291ASXL3c.4236G>C (p.Pro1412=)
c.4233G>C (p.Pro1411=)
c.4113G>C (p.Pro1371=)
c.4209G>C (p.Pro1403=)
c.4155G>C (p.Pro1385=)
c.4116G>C (p.Pro1372=)
c.4065G>C (p.Pro1355=)
c.1197G>C (p.Pro399=)
18g.33744081G=CA2294857982ASXL3c.4236G= (p.Pro1412=)
c.4233G= (p.Pro1411=)
c.4113G= (p.Pro1371=)
c.4209G= (p.Pro1403=)
c.4155G= (p.Pro1385=)
c.4116G= (p.Pro1372=)
c.4065G= (p.Pro1355=)
c.1197G= (p.Pro399=)
18g.33744081G>TCA503770294ASXL3c.4236G>T (p.Pro1412=)
c.4233G>T (p.Pro1411=)
c.4113G>T (p.Pro1371=)
c.4209G>T (p.Pro1403=)
c.4155G>T (p.Pro1385=)
c.4116G>T (p.Pro1372=)
c.4065G>T (p.Pro1355=)
c.1197G>T (p.Pro399=)
gnomAD v4
18g.33744082A>CCA402190481ASXL3c.4237A>C (p.Thr1413Pro)
c.4234A>C (p.Thr1412Pro)
c.4114A>C (p.Thr1372Pro)
c.4210A>C (p.Thr1404Pro)
c.4156A>C (p.Thr1386Pro)
c.4117A>C (p.Thr1373Pro)
c.4066A>C (p.Thr1356Pro)
c.1198A>C (p.Thr400Pro)
18g.33744082A>GCA402190482ASXL3c.4237A>G (p.Thr1413Ala)
c.4234A>G (p.Thr1412Ala)
c.4114A>G (p.Thr1372Ala)
c.4210A>G (p.Thr1404Ala)
c.4156A>G (p.Thr1386Ala)
c.4117A>G (p.Thr1373Ala)
c.4066A>G (p.Thr1356Ala)
c.1198A>G (p.Thr400Ala)
18g.33744082A>TCA402190483ASXL3c.4237A>T (p.Thr1413Ser)
c.4234A>T (p.Thr1412Ser)
c.4114A>T (p.Thr1372Ser)
c.4210A>T (p.Thr1404Ser)
c.4156A>T (p.Thr1386Ser)
c.4117A>T (p.Thr1373Ser)
c.4066A>T (p.Thr1356Ser)
c.1198A>T (p.Thr400Ser)
18g.33744083C>ACA402190486ASXL3c.4238C>A (p.Thr1413Asn)
c.4235C>A (p.Thr1412Asn)
c.4115C>A (p.Thr1372Asn)
c.4211C>A (p.Thr1404Asn)
c.4157C>A (p.Thr1386Asn)
c.4118C>A (p.Thr1373Asn)
c.4067C>A (p.Thr1356Asn)
c.1199C>A (p.Thr400Asn)
dbSNP
18g.33744083C=CA2294857983ASXL3c.4238C= (p.Thr1413=)
c.4235C= (p.Thr1412=)
c.4115C= (p.Thr1372=)
c.4211C= (p.Thr1404=)
c.4157C= (p.Thr1386=)
c.4118C= (p.Thr1373=)
c.4067C= (p.Thr1356=)
c.1199C= (p.Thr400=)
18g.33744083C>GCA402190485ASXL3c.4238C>G (p.Thr1413Ser)
c.4235C>G (p.Thr1412Ser)
c.4115C>G (p.Thr1372Ser)
c.4211C>G (p.Thr1404Ser)
c.4157C>G (p.Thr1386Ser)
c.4118C>G (p.Thr1373Ser)
c.4067C>G (p.Thr1356Ser)
c.1199C>G (p.Thr400Ser)
18g.33744083C>TCA402190484ASXL3c.4238C>T (p.Thr1413Ile)
c.4235C>T (p.Thr1412Ile)
c.4115C>T (p.Thr1372Ile)
c.4211C>T (p.Thr1404Ile)
c.4157C>T (p.Thr1386Ile)
c.4118C>T (p.Thr1373Ile)
c.4067C>T (p.Thr1356Ile)
c.1199C>T (p.Thr400Ile)
dbSNP
18g.33744084C>ACA503770298ASXL3c.4239C>A (p.Thr1413=)
c.4236C>A (p.Thr1412=)
c.4116C>A (p.Thr1372=)
c.4212C>A (p.Thr1404=)
c.4158C>A (p.Thr1386=)
c.4119C>A (p.Thr1373=)
c.4068C>A (p.Thr1356=)
c.1200C>A (p.Thr400=)
18g.33744084C=CA2294857984ASXL3c.4239C= (p.Thr1413=)
c.4236C= (p.Thr1412=)
c.4116C= (p.Thr1372=)
c.4212C= (p.Thr1404=)
c.4158C= (p.Thr1386=)
c.4119C= (p.Thr1373=)
c.4068C= (p.Thr1356=)
c.1200C= (p.Thr400=)
18g.33744084C>GCA8934209ASXL3c.4239C>G (p.Thr1413=)
c.4236C>G (p.Thr1412=)
c.4116C>G (p.Thr1372=)
c.4212C>G (p.Thr1404=)
c.4158C>G (p.Thr1386=)
c.4119C>G (p.Thr1373=)
c.4068C>G (p.Thr1356=)
c.1200C>G (p.Thr400=)
dbSNP ExAC gnomAD v2 COSMIC
18g.33744084C>TCA8934208ASXL3c.4239C>T (p.Thr1413=)
c.4236C>T (p.Thr1412=)
c.4116C>T (p.Thr1372=)
c.4212C>T (p.Thr1404=)
c.4158C>T (p.Thr1386=)
c.4119C>T (p.Thr1373=)
c.4068C>T (p.Thr1356=)
c.1200C>T (p.Thr400=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744085G>ACA8934210ASXL3c.4240G>A (p.Val1414Ile)
c.4237G>A (p.Val1413Ile)
c.4117G>A (p.Val1373Ile)
c.4213G>A (p.Val1405Ile)
c.4159G>A (p.Val1387Ile)
c.4120G>A (p.Val1374Ile)
c.4069G>A (p.Val1357Ile)
c.1201G>A (p.Val401Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744085G>CCA402190488ASXL3c.4240G>C (p.Val1414Leu)
c.4237G>C (p.Val1413Leu)
c.4117G>C (p.Val1373Leu)
c.4213G>C (p.Val1405Leu)
c.4159G>C (p.Val1387Leu)
c.4120G>C (p.Val1374Leu)
c.4069G>C (p.Val1357Leu)
c.1201G>C (p.Val401Leu)
18g.33744085G=CA2294857985ASXL3c.4240G= (p.Val1414=)
c.4237G= (p.Val1413=)
c.4117G= (p.Val1373=)
c.4213G= (p.Val1405=)
c.4159G= (p.Val1387=)
c.4120G= (p.Val1374=)
c.4069G= (p.Val1357=)
c.1201G= (p.Val401=)
18g.33744085G>TCA402190487ASXL3c.4240G>T (p.Val1414Phe)
c.4237G>T (p.Val1413Phe)
c.4117G>T (p.Val1373Phe)
c.4213G>T (p.Val1405Phe)
c.4159G>T (p.Val1387Phe)
c.4120G>T (p.Val1374Phe)
c.4069G>T (p.Val1357Phe)
c.1201G>T (p.Val401Phe)
18g.33744086T>ACA402190489ASXL3c.4241T>A (p.Val1414Asp)
c.4238T>A (p.Val1413Asp)
c.4118T>A (p.Val1373Asp)
c.4214T>A (p.Val1405Asp)
c.4160T>A (p.Val1387Asp)
c.4121T>A (p.Val1374Asp)
c.4070T>A (p.Val1357Asp)
c.1202T>A (p.Val401Asp)
18g.33744086T>CCA402190490ASXL3c.4241T>C (p.Val1414Ala)
c.4238T>C (p.Val1413Ala)
c.4118T>C (p.Val1373Ala)
c.4214T>C (p.Val1405Ala)
c.4160T>C (p.Val1387Ala)
c.4121T>C (p.Val1374Ala)
c.4070T>C (p.Val1357Ala)
c.1202T>C (p.Val401Ala)
dbSNP gnomAD v4
18g.33744086T>GCA402190491ASXL3c.4241T>G (p.Val1414Gly)
c.4238T>G (p.Val1413Gly)
c.4118T>G (p.Val1373Gly)
c.4214T>G (p.Val1405Gly)
c.4160T>G (p.Val1387Gly)
c.4121T>G (p.Val1374Gly)
c.4070T>G (p.Val1357Gly)
c.1202T>G (p.Val401Gly)
dbSNP
18g.33744086T=CA2294857986ASXL3c.4241T= (p.Val1414=)
c.4238T= (p.Val1413=)
c.4118T= (p.Val1373=)
c.4214T= (p.Val1405=)
c.4160T= (p.Val1387=)
c.4121T= (p.Val1374=)
c.4070T= (p.Val1357=)
c.1202T= (p.Val401=)
18g.33744087C>ACA503770306ASXL3c.4242C>A (p.Val1414=)
c.4239C>A (p.Val1413=)
c.4119C>A (p.Val1373=)
c.4215C>A (p.Val1405=)
c.4161C>A (p.Val1387=)
c.4122C>A (p.Val1374=)
c.4071C>A (p.Val1357=)
c.1203C>A (p.Val401=)
18g.33744087C=CA2294857987ASXL3c.4242C= (p.Val1414=)
c.4239C= (p.Val1413=)
c.4119C= (p.Val1373=)
c.4215C= (p.Val1405=)
c.4161C= (p.Val1387=)
c.4122C= (p.Val1374=)
c.4071C= (p.Val1357=)
c.1203C= (p.Val401=)
18g.33744087C>GCA503770308ASXL3c.4242C>G (p.Val1414=)
c.4239C>G (p.Val1413=)
c.4119C>G (p.Val1373=)
c.4215C>G (p.Val1405=)
c.4161C>G (p.Val1387=)
c.4122C>G (p.Val1374=)
c.4071C>G (p.Val1357=)
c.1203C>G (p.Val401=)
dbSNP
18g.33744087C>TCA8934211ASXL3c.4242C>T (p.Val1414=)
c.4239C>T (p.Val1413=)
c.4119C>T (p.Val1373=)
c.4215C>T (p.Val1405=)
c.4161C>T (p.Val1387=)
c.4122C>T (p.Val1374=)
c.4071C>T (p.Val1357=)
c.1203C>T (p.Val401=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744088G>ACA8934212ASXL3c.4243G>A (p.Ala1415Thr)
c.4240G>A (p.Ala1414Thr)
c.4120G>A (p.Ala1374Thr)
c.4216G>A (p.Ala1406Thr)
c.4162G>A (p.Ala1388Thr)
c.4123G>A (p.Ala1375Thr)
c.4072G>A (p.Ala1358Thr)
c.1204G>A (p.Ala402Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744088G>CCA402190492ASXL3c.4243G>C (p.Ala1415Pro)
c.4240G>C (p.Ala1414Pro)
c.4120G>C (p.Ala1374Pro)
c.4216G>C (p.Ala1406Pro)
c.4162G>C (p.Ala1388Pro)
c.4123G>C (p.Ala1375Pro)
c.4072G>C (p.Ala1358Pro)
c.1204G>C (p.Ala402Pro)
dbSNP gnomAD v3 gnomAD v4
18g.33744088G=CA2294857988ASXL3c.4243G= (p.Ala1415=)
c.4240G= (p.Ala1414=)
c.4120G= (p.Ala1374=)
c.4216G= (p.Ala1406=)
c.4162G= (p.Ala1388=)
c.4123G= (p.Ala1375=)
c.4072G= (p.Ala1358=)
c.1204G= (p.Ala402=)
18g.33744088G>TCA402190493ASXL3c.4243G>T (p.Ala1415Ser)
c.4240G>T (p.Ala1414Ser)
c.4120G>T (p.Ala1374Ser)
c.4216G>T (p.Ala1406Ser)
c.4162G>T (p.Ala1388Ser)
c.4123G>T (p.Ala1375Ser)
c.4072G>T (p.Ala1358Ser)
c.1204G>T (p.Ala402Ser)
COSMIC
18g.33744089C>ACA402190494ASXL3c.4244C>A (p.Ala1415Glu)
c.4241C>A (p.Ala1414Glu)
c.4121C>A (p.Ala1374Glu)
c.4217C>A (p.Ala1406Glu)
c.4163C>A (p.Ala1388Glu)
c.4124C>A (p.Ala1375Glu)
c.4073C>A (p.Ala1358Glu)
c.1205C>A (p.Ala402Glu)
18g.33744089C>GCA402190495ASXL3c.4244C>G (p.Ala1415Gly)
c.4241C>G (p.Ala1414Gly)
c.4121C>G (p.Ala1374Gly)
c.4217C>G (p.Ala1406Gly)
c.4163C>G (p.Ala1388Gly)
c.4124C>G (p.Ala1375Gly)
c.4073C>G (p.Ala1358Gly)
c.1205C>G (p.Ala402Gly)
18g.33744089C>TCA402190496ASXL3c.4244C>T (p.Ala1415Val)
c.4241C>T (p.Ala1414Val)
c.4121C>T (p.Ala1374Val)
c.4217C>T (p.Ala1406Val)
c.4163C>T (p.Ala1388Val)
c.4124C>T (p.Ala1375Val)
c.4073C>T (p.Ala1358Val)
c.1205C>T (p.Ala402Val)
COSMIC
18g.33744090A=CA2294857989ASXL3c.4245A= (p.Ala1415=)
c.4242A= (p.Ala1414=)
c.4122A= (p.Ala1374=)
c.4218A= (p.Ala1406=)
c.4164A= (p.Ala1388=)
c.4125A= (p.Ala1375=)
c.4074A= (p.Ala1358=)
c.1206A= (p.Ala402=)
18g.33744090A>CCA8934213ASXL3c.4245A>C (p.Ala1415=)
c.4242A>C (p.Ala1414=)
c.4122A>C (p.Ala1374=)
c.4218A>C (p.Ala1406=)
c.4164A>C (p.Ala1388=)
c.4125A>C (p.Ala1375=)
c.4074A>C (p.Ala1358=)
c.1206A>C (p.Ala402=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744090A>GCA503770314ASXL3c.4245A>G (p.Ala1415=)
c.4242A>G (p.Ala1414=)
c.4122A>G (p.Ala1374=)
c.4218A>G (p.Ala1406=)
c.4164A>G (p.Ala1388=)
c.4125A>G (p.Ala1375=)
c.4074A>G (p.Ala1358=)
c.1206A>G (p.Ala402=)
18g.33744090A>TCA503770318ASXL3c.4245A>T (p.Ala1415=)
c.4242A>T (p.Ala1414=)
c.4122A>T (p.Ala1374=)
c.4218A>T (p.Ala1406=)
c.4164A>T (p.Ala1388=)
c.4125A>T (p.Ala1375=)
c.4074A>T (p.Ala1358=)
c.1206A>T (p.Ala402=)
18g.33744091A=CA2294857990ASXL3c.4246A= (p.Met1416=)
c.4243A= (p.Met1415=)
c.4123A= (p.Met1375=)
c.4219A= (p.Met1407=)
c.4165A= (p.Met1389=)
c.4126A= (p.Met1376=)
c.4075A= (p.Met1359=)
c.1207A= (p.Met403=)
18g.33744091A>CCA402190498ASXL3c.4246A>C (p.Met1416Leu)
c.4243A>C (p.Met1415Leu)
c.4123A>C (p.Met1375Leu)
c.4219A>C (p.Met1407Leu)
c.4165A>C (p.Met1389Leu)
c.4126A>C (p.Met1376Leu)
c.4075A>C (p.Met1359Leu)
c.1207A>C (p.Met403Leu)
18g.33744091A>GCA8934214ASXL3c.4246A>G (p.Met1416Val)
c.4243A>G (p.Met1415Val)
c.4123A>G (p.Met1375Val)
c.4219A>G (p.Met1407Val)
c.4165A>G (p.Met1389Val)
c.4126A>G (p.Met1376Val)
c.4075A>G (p.Met1359Val)
c.1207A>G (p.Met403Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744091A>TCA402190497ASXL3c.4246A>T (p.Met1416Leu)
c.4243A>T (p.Met1415Leu)
c.4123A>T (p.Met1375Leu)
c.4219A>T (p.Met1407Leu)
c.4165A>T (p.Met1389Leu)
c.4126A>T (p.Met1376Leu)
c.4075A>T (p.Met1359Leu)
c.1207A>T (p.Met403Leu)
18g.33744092T>ACA402190499ASXL3c.4247T>A (p.Met1416Lys)
c.4244T>A (p.Met1415Lys)
c.4124T>A (p.Met1375Lys)
c.4220T>A (p.Met1407Lys)
c.4166T>A (p.Met1389Lys)
c.4127T>A (p.Met1376Lys)
c.4076T>A (p.Met1359Lys)
c.1208T>A (p.Met403Lys)
18g.33744092T>CCA402190500ASXL3c.4247T>C (p.Met1416Thr)
c.4244T>C (p.Met1415Thr)
c.4124T>C (p.Met1375Thr)
c.4220T>C (p.Met1407Thr)
c.4166T>C (p.Met1389Thr)
c.4127T>C (p.Met1376Thr)
c.4076T>C (p.Met1359Thr)
c.1208T>C (p.Met403Thr)
18g.33744092T>GCA8934215ASXL3c.4247T>G (p.Met1416Arg)
c.4244T>G (p.Met1415Arg)
c.4124T>G (p.Met1375Arg)
c.4220T>G (p.Met1407Arg)
c.4166T>G (p.Met1389Arg)
c.4127T>G (p.Met1376Arg)
c.4076T>G (p.Met1359Arg)
c.1208T>G (p.Met403Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744092T=CA2294857991ASXL3c.4247T= (p.Met1416=)
c.4244T= (p.Met1415=)
c.4124T= (p.Met1375=)
c.4220T= (p.Met1407=)
c.4166T= (p.Met1389=)
c.4127T= (p.Met1376=)
c.4076T= (p.Met1359=)
c.1208T= (p.Met403=)
18g.33744093G>ACA402190501ASXL3c.4248G>A (p.Met1416Ile)
c.4245G>A (p.Met1415Ile)
c.4125G>A (p.Met1375Ile)
c.4221G>A (p.Met1407Ile)
c.4167G>A (p.Met1389Ile)
c.4128G>A (p.Met1376Ile)
c.4077G>A (p.Met1359Ile)
c.1209G>A (p.Met403Ile)
dbSNP
18g.33744093G>CCA402190502ASXL3c.4248G>C (p.Met1416Ile)
c.4245G>C (p.Met1415Ile)
c.4125G>C (p.Met1375Ile)
c.4221G>C (p.Met1407Ile)
c.4167G>C (p.Met1389Ile)
c.4128G>C (p.Met1376Ile)
c.4077G>C (p.Met1359Ile)
c.1209G>C (p.Met403Ile)
18g.33744093G=CA2294857992ASXL3c.4248G= (p.Met1416=)
c.4245G= (p.Met1415=)
c.4125G= (p.Met1375=)
c.4221G= (p.Met1407=)
c.4167G= (p.Met1389=)
c.4128G= (p.Met1376=)
c.4077G= (p.Met1359=)
c.1209G= (p.Met403=)
18g.33744093G>TCA402190503ASXL3c.4248G>T (p.Met1416Ile)
c.4245G>T (p.Met1415Ile)
c.4125G>T (p.Met1375Ile)
c.4221G>T (p.Met1407Ile)
c.4167G>T (p.Met1389Ile)
c.4128G>T (p.Met1376Ile)
c.4077G>T (p.Met1359Ile)
c.1209G>T (p.Met403Ile)
18g.33744094T>ACA402190504ASXL3c.4249T>A (p.Phe1417Ile)
c.4246T>A (p.Phe1416Ile)
c.4126T>A (p.Phe1376Ile)
c.4222T>A (p.Phe1408Ile)
c.4168T>A (p.Phe1390Ile)
c.4129T>A (p.Phe1377Ile)
c.4078T>A (p.Phe1360Ile)
c.1210T>A (p.Phe404Ile)
18g.33744094T>CCA402190505ASXL3c.4249T>C (p.Phe1417Leu)
c.4246T>C (p.Phe1416Leu)
c.4126T>C (p.Phe1376Leu)
c.4222T>C (p.Phe1408Leu)
c.4168T>C (p.Phe1390Leu)
c.4129T>C (p.Phe1377Leu)
c.4078T>C (p.Phe1360Leu)
c.1210T>C (p.Phe404Leu)
18g.33744094T>GCA402190506ASXL3c.4249T>G (p.Phe1417Val)
c.4246T>G (p.Phe1416Val)
c.4126T>G (p.Phe1376Val)
c.4222T>G (p.Phe1408Val)
c.4168T>G (p.Phe1390Val)
c.4129T>G (p.Phe1377Val)
c.4078T>G (p.Phe1360Val)
c.1210T>G (p.Phe404Val)
18g.33744095T>ACA402190507ASXL3c.4250T>A (p.Phe1417Tyr)
c.4247T>A (p.Phe1416Tyr)
c.4127T>A (p.Phe1376Tyr)
c.4223T>A (p.Phe1408Tyr)
c.4169T>A (p.Phe1390Tyr)
c.4130T>A (p.Phe1377Tyr)
c.4079T>A (p.Phe1360Tyr)
c.1211T>A (p.Phe404Tyr)
18g.33744095T>CCA402190508ASXL3c.4250T>C (p.Phe1417Ser)
c.4247T>C (p.Phe1416Ser)
c.4127T>C (p.Phe1376Ser)
c.4223T>C (p.Phe1408Ser)
c.4169T>C (p.Phe1390Ser)
c.4130T>C (p.Phe1377Ser)
c.4079T>C (p.Phe1360Ser)
c.1211T>C (p.Phe404Ser)
18g.33744095T>GCA402190509ASXL3c.4250T>G (p.Phe1417Cys)
c.4247T>G (p.Phe1416Cys)
c.4127T>G (p.Phe1376Cys)
c.4223T>G (p.Phe1408Cys)
c.4169T>G (p.Phe1390Cys)
c.4130T>G (p.Phe1377Cys)
c.4079T>G (p.Phe1360Cys)
c.1211T>G (p.Phe404Cys)
18g.33744096T>ACA402190511ASXL3c.4251T>A (p.Phe1417Leu)
c.4248T>A (p.Phe1416Leu)
c.4128T>A (p.Phe1376Leu)
c.4224T>A (p.Phe1408Leu)
c.4170T>A (p.Phe1390Leu)
c.4131T>A (p.Phe1377Leu)
c.4080T>A (p.Phe1360Leu)
c.1212T>A (p.Phe404Leu)
18g.33744096T>CCA503770327ASXL3c.4251T>C (p.Phe1417=)
c.4248T>C (p.Phe1416=)
c.4128T>C (p.Phe1376=)
c.4224T>C (p.Phe1408=)
c.4170T>C (p.Phe1390=)
c.4131T>C (p.Phe1377=)
c.4080T>C (p.Phe1360=)
c.1212T>C (p.Phe404=)
18g.33744096T>GCA402190510ASXL3c.4251T>G (p.Phe1417Leu)
c.4248T>G (p.Phe1416Leu)
c.4128T>G (p.Phe1376Leu)
c.4224T>G (p.Phe1408Leu)
c.4170T>G (p.Phe1390Leu)
c.4131T>G (p.Phe1377Leu)
c.4080T>G (p.Phe1360Leu)
c.1212T>G (p.Phe404Leu)
18g.33744097A>CCA402190512ASXL3c.4252A>C (p.Thr1418Pro)
c.4249A>C (p.Thr1417Pro)
c.4129A>C (p.Thr1377Pro)
c.4225A>C (p.Thr1409Pro)
c.4171A>C (p.Thr1391Pro)
c.4132A>C (p.Thr1378Pro)
c.4081A>C (p.Thr1361Pro)
c.1213A>C (p.Thr405Pro)
18g.33744097A>GCA402190513ASXL3c.4252A>G (p.Thr1418Ala)
c.4249A>G (p.Thr1417Ala)
c.4129A>G (p.Thr1377Ala)
c.4225A>G (p.Thr1409Ala)
c.4171A>G (p.Thr1391Ala)
c.4132A>G (p.Thr1378Ala)
c.4081A>G (p.Thr1361Ala)
c.1213A>G (p.Thr405Ala)
18g.33744097A>TCA402190514ASXL3c.4252A>T (p.Thr1418Ser)
c.4249A>T (p.Thr1417Ser)
c.4129A>T (p.Thr1377Ser)
c.4225A>T (p.Thr1409Ser)
c.4171A>T (p.Thr1391Ser)
c.4132A>T (p.Thr1378Ser)
c.4081A>T (p.Thr1361Ser)
c.1213A>T (p.Thr405Ser)
18g.33744098C>ACA402190515ASXL3c.4253C>A (p.Thr1418Asn)
c.4250C>A (p.Thr1417Asn)
c.4130C>A (p.Thr1377Asn)
c.4226C>A (p.Thr1409Asn)
c.4172C>A (p.Thr1391Asn)
c.4133C>A (p.Thr1378Asn)
c.4082C>A (p.Thr1361Asn)
c.1214C>A (p.Thr405Asn)
18g.33744098C>GCA402190516ASXL3c.4253C>G (p.Thr1418Ser)
c.4250C>G (p.Thr1417Ser)
c.4130C>G (p.Thr1377Ser)
c.4226C>G (p.Thr1409Ser)
c.4172C>G (p.Thr1391Ser)
c.4133C>G (p.Thr1378Ser)
c.4082C>G (p.Thr1361Ser)
c.1214C>G (p.Thr405Ser)
18g.33744098C>TCA402190517ASXL3c.4253C>T (p.Thr1418Ile)
c.4250C>T (p.Thr1417Ile)
c.4130C>T (p.Thr1377Ile)
c.4226C>T (p.Thr1409Ile)
c.4172C>T (p.Thr1391Ile)
c.4133C>T (p.Thr1378Ile)
c.4082C>T (p.Thr1361Ile)
c.1214C>T (p.Thr405Ile)
18g.33744099T>ACA503770335ASXL3c.4254T>A (p.Thr1418=)
c.4251T>A (p.Thr1417=)
c.4131T>A (p.Thr1377=)
c.4227T>A (p.Thr1409=)
c.4173T>A (p.Thr1391=)
c.4134T>A (p.Thr1378=)
c.4083T>A (p.Thr1361=)
c.1215T>A (p.Thr405=)
18g.33744099T>CCA503770337ASXL3c.4254T>C (p.Thr1418=)
c.4251T>C (p.Thr1417=)
c.4131T>C (p.Thr1377=)
c.4227T>C (p.Thr1409=)
c.4173T>C (p.Thr1391=)
c.4134T>C (p.Thr1378=)
c.4083T>C (p.Thr1361=)
c.1215T>C (p.Thr405=)
18g.33744099T>GCA503770339ASXL3c.4254T>G (p.Thr1418=)
c.4251T>G (p.Thr1417=)
c.4131T>G (p.Thr1377=)
c.4227T>G (p.Thr1409=)
c.4173T>G (p.Thr1391=)
c.4134T>G (p.Thr1378=)
c.4083T>G (p.Thr1361=)
c.1215T>G (p.Thr405=)
18g.33744100G>ACA402190518ASXL3c.4255G>A (p.Gly1419Arg)
c.4252G>A (p.Gly1418Arg)
c.4132G>A (p.Gly1378Arg)
c.4228G>A (p.Gly1410Arg)
c.4174G>A (p.Gly1392Arg)
c.4135G>A (p.Gly1379Arg)
c.4084G>A (p.Gly1362Arg)
c.1216G>A (p.Gly406Arg)
18g.33744100G>CCA402190519ASXL3c.4255G>C (p.Gly1419Arg)
c.4252G>C (p.Gly1418Arg)
c.4132G>C (p.Gly1378Arg)
c.4228G>C (p.Gly1410Arg)
c.4174G>C (p.Gly1392Arg)
c.4135G>C (p.Gly1379Arg)
c.4084G>C (p.Gly1362Arg)
c.1216G>C (p.Gly406Arg)
18g.33744100G>TCA402190520ASXL3c.4255G>T (p.Gly1419Ter)
c.4252G>T (p.Gly1418Ter)
c.4132G>T (p.Gly1378Ter)
c.4228G>T (p.Gly1410Ter)
c.4174G>T (p.Gly1392Ter)
c.4135G>T (p.Gly1379Ter)
c.4084G>T (p.Gly1362Ter)
c.1216G>T (p.Gly406Ter)
18g.33744101G>ACA297793499ASXL3c.4256G>A (p.Gly1419Glu)
c.4253G>A (p.Gly1418Glu)
c.4133G>A (p.Gly1378Glu)
c.4229G>A (p.Gly1410Glu)
c.4175G>A (p.Gly1392Glu)
c.4136G>A (p.Gly1379Glu)
c.4085G>A (p.Gly1362Glu)
c.1217G>A (p.Gly406Glu)
dbSNP
18g.33744101G>CCA402190521ASXL3c.4256G>C (p.Gly1419Ala)
c.4253G>C (p.Gly1418Ala)
c.4133G>C (p.Gly1378Ala)
c.4229G>C (p.Gly1410Ala)
c.4175G>C (p.Gly1392Ala)
c.4136G>C (p.Gly1379Ala)
c.4085G>C (p.Gly1362Ala)
c.1217G>C (p.Gly406Ala)
18g.33744101G=CA2294857993ASXL3c.4256G= (p.Gly1419=)
c.4253G= (p.Gly1418=)
c.4133G= (p.Gly1378=)
c.4229G= (p.Gly1410=)
c.4175G= (p.Gly1392=)
c.4136G= (p.Gly1379=)
c.4085G= (p.Gly1362=)
c.1217G= (p.Gly406=)
18g.33744101G>TCA402190522ASXL3c.4256G>T (p.Gly1419Val)
c.4253G>T (p.Gly1418Val)
c.4133G>T (p.Gly1378Val)
c.4229G>T (p.Gly1410Val)
c.4175G>T (p.Gly1392Val)
c.4136G>T (p.Gly1379Val)
c.4085G>T (p.Gly1362Val)
c.1217G>T (p.Gly406Val)
COSMIC
18g.33744102A>CCA503770345ASXL3c.4257A>C (p.Gly1419=)
c.4254A>C (p.Gly1418=)
c.4134A>C (p.Gly1378=)
c.4230A>C (p.Gly1410=)
c.4176A>C (p.Gly1392=)
c.4137A>C (p.Gly1379=)
c.4086A>C (p.Gly1362=)
c.1218A>C (p.Gly406=)
18g.33744102A>GCA503770346ASXL3c.4257A>G (p.Gly1419=)
c.4254A>G (p.Gly1418=)
c.4134A>G (p.Gly1378=)
c.4230A>G (p.Gly1410=)
c.4176A>G (p.Gly1392=)
c.4137A>G (p.Gly1379=)
c.4086A>G (p.Gly1362=)
c.1218A>G (p.Gly406=)
18g.33744102A>TCA503770347ASXL3c.4257A>T (p.Gly1419=)
c.4254A>T (p.Gly1418=)
c.4134A>T (p.Gly1378=)
c.4230A>T (p.Gly1410=)
c.4176A>T (p.Gly1392=)
c.4137A>T (p.Gly1379=)
c.4086A>T (p.Gly1362=)
c.1218A>T (p.Gly406=)
18g.33744103_33744106dupCA658824694ASXL3c.4258_4261dup (p.Met1421LysfsTer9)
c.4255_4258dup (p.Met1420LysfsTer9)
c.4135_4138dup (p.Met1380LysfsTer9)
c.4231_4234dup (p.Met1412LysfsTer9)
c.4177_4180dup (p.Met1394LysfsTer9)
c.4138_4141dup (p.Met1381LysfsTer9)
c.4087_4090dup (p.Met1364LysfsTer9)
c.1219_1222dup (p.Met408LysfsTer9)
ClinVar dbSNP
18g.33744103A>CCA402190524ASXL3c.4258A>C (p.Asn1420His)
c.4255A>C (p.Asn1419His)
c.4135A>C (p.Asn1379His)
c.4231A>C (p.Asn1411His)
c.4177A>C (p.Asn1393His)
c.4138A>C (p.Asn1380His)
c.4087A>C (p.Asn1363His)
c.1219A>C (p.Asn407His)
18g.33744103A>GCA402190525ASXL3c.4258A>G (p.Asn1420Asp)
c.4255A>G (p.Asn1419Asp)
c.4135A>G (p.Asn1379Asp)
c.4231A>G (p.Asn1411Asp)
c.4177A>G (p.Asn1393Asp)
c.4138A>G (p.Asn1380Asp)
c.4087A>G (p.Asn1363Asp)
c.1219A>G (p.Asn407Asp)
18g.33744103A>TCA402190523ASXL3c.4258A>T (p.Asn1420Tyr)
c.4255A>T (p.Asn1419Tyr)
c.4135A>T (p.Asn1379Tyr)
c.4231A>T (p.Asn1411Tyr)
c.4177A>T (p.Asn1393Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4087A>T (p.Asn1363Tyr)
c.1219A>T (p.Asn407Tyr)
18g.33744104A=CA2294857994ASXL3c.4259A= (p.Asn1420=)
c.4256A= (p.Asn1419=)
c.4136A= (p.Asn1379=)
c.4232A= (p.Asn1411=)
c.4178A= (p.Asn1393=)
c.4139A= (p.Asn1380=)
c.4088A= (p.Asn1363=)
c.1220A= (p.Asn407=)
18g.33744104A>CCA402190526ASXL3c.4259A>C (p.Asn1420Thr)
c.4256A>C (p.Asn1419Thr)
c.4136A>C (p.Asn1379Thr)
c.4232A>C (p.Asn1411Thr)
c.4178A>C (p.Asn1393Thr)
c.4139A>C (p.Asn1380Thr)
c.4088A>C (p.Asn1363Thr)
c.1220A>C (p.Asn407Thr)
18g.33744104A>GCA402190527ASXL3c.4259A>G (p.Asn1420Ser)
c.4256A>G (p.Asn1419Ser)
c.4136A>G (p.Asn1379Ser)
c.4232A>G (p.Asn1411Ser)
c.4178A>G (p.Asn1393Ser)
c.4139A>G (p.Asn1380Ser)
c.4088A>G (p.Asn1363Ser)
c.1220A>G (p.Asn407Ser)
dbSNP
18g.33744104A>TCA402190528ASXL3c.4259A>T (p.Asn1420Ile)
c.4256A>T (p.Asn1419Ile)
c.4136A>T (p.Asn1379Ile)
c.4232A>T (p.Asn1411Ile)
c.4178A>T (p.Asn1393Ile)
c.4139A>T (p.Asn1380Ile)
c.4088A>T (p.Asn1363Ile)
c.1220A>T (p.Asn407Ile)
18g.33744105C>ACA402190529ASXL3c.4260C>A (p.Asn1420Lys)
c.4257C>A (p.Asn1419Lys)
c.4137C>A (p.Asn1379Lys)
c.4233C>A (p.Asn1411Lys)
c.4179C>A (p.Asn1393Lys)
c.4140C>A (p.Asn1380Lys)
c.4089C>A (p.Asn1363Lys)
c.1221C>A (p.Asn407Lys)
18g.33744105C>GCA402190530ASXL3c.4260C>G (p.Asn1420Lys)
c.4257C>G (p.Asn1419Lys)
c.4137C>G (p.Asn1379Lys)
c.4233C>G (p.Asn1411Lys)
c.4179C>G (p.Asn1393Lys)
c.4140C>G (p.Asn1380Lys)
c.4089C>G (p.Asn1363Lys)
c.1221C>G (p.Asn407Lys)
18g.33744105C>TCA503770357ASXL3c.4260C>T (p.Asn1420=)
c.4257C>T (p.Asn1419=)
c.4137C>T (p.Asn1379=)
c.4233C>T (p.Asn1411=)
c.4179C>T (p.Asn1393=)
c.4140C>T (p.Asn1380=)
c.4089C>T (p.Asn1363=)
c.1221C>T (p.Asn407=)
18g.33744106A=CA2294857995ASXL3c.4261A= (p.Met1421=)
c.4258A= (p.Met1420=)
c.4138A= (p.Met1380=)
c.4234A= (p.Met1412=)
c.4180A= (p.Met1394=)
c.4141A= (p.Met1381=)
c.4090A= (p.Met1364=)
c.1222A= (p.Met408=)
18g.33744106A>CCA8934216ASXL3c.4261A>C (p.Met1421Leu)
c.4258A>C (p.Met1420Leu)
c.4138A>C (p.Met1380Leu)
c.4234A>C (p.Met1412Leu)
c.4180A>C (p.Met1394Leu)
c.4141A>C (p.Met1381Leu)
c.4090A>C (p.Met1364Leu)
c.1222A>C (p.Met408Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744106A>GCA402190531ASXL3c.4261A>G (p.Met1421Val)
c.4258A>G (p.Met1420Val)
c.4138A>G (p.Met1380Val)
c.4234A>G (p.Met1412Val)
c.4180A>G (p.Met1394Val)
c.4141A>G (p.Met1381Val)
c.4090A>G (p.Met1364Val)
c.1222A>G (p.Met408Val)
18g.33744106A>TCA402190532ASXL3c.4261A>T (p.Met1421Leu)
c.4258A>T (p.Met1420Leu)
c.4138A>T (p.Met1380Leu)
c.4234A>T (p.Met1412Leu)
c.4180A>T (p.Met1394Leu)
c.4141A>T (p.Met1381Leu)
c.4090A>T (p.Met1364Leu)
c.1222A>T (p.Met408Leu)
18g.33744107T>ACA402190533ASXL3c.4262T>A (p.Met1421Lys)
c.4259T>A (p.Met1420Lys)
c.4139T>A (p.Met1380Lys)
c.4235T>A (p.Met1412Lys)
c.4181T>A (p.Met1394Lys)
c.4142T>A (p.Met1381Lys)
c.4091T>A (p.Met1364Lys)
c.1223T>A (p.Met408Lys)
gnomAD v4
18g.33744107T>CCA402190534ASXL3c.4262T>C (p.Met1421Thr)
c.4259T>C (p.Met1420Thr)
c.4139T>C (p.Met1380Thr)
c.4235T>C (p.Met1412Thr)
c.4181T>C (p.Met1394Thr)
c.4142T>C (p.Met1381Thr)
c.4091T>C (p.Met1364Thr)
c.1223T>C (p.Met408Thr)
18g.33744107T>GCA402190535ASXL3c.4262T>G (p.Met1421Arg)
c.4259T>G (p.Met1420Arg)
c.4139T>G (p.Met1380Arg)
c.4235T>G (p.Met1412Arg)
c.4181T>G (p.Met1394Arg)
c.4142T>G (p.Met1381Arg)
c.4091T>G (p.Met1364Arg)
c.1223T>G (p.Met408Arg)
18g.33744108G>ACA402190536ASXL3c.4263G>A (p.Met1421Ile)
c.4260G>A (p.Met1420Ile)
c.4140G>A (p.Met1380Ile)
c.4236G>A (p.Met1412Ile)
c.4182G>A (p.Met1394Ile)
c.4143G>A (p.Met1381Ile)
c.4092G>A (p.Met1364Ile)
c.1224G>A (p.Met408Ile)
18g.33744108G>CCA402190537ASXL3c.4263G>C (p.Met1421Ile)
c.4260G>C (p.Met1420Ile)
c.4140G>C (p.Met1380Ile)
c.4236G>C (p.Met1412Ile)
c.4182G>C (p.Met1394Ile)
c.4143G>C (p.Met1381Ile)
c.4092G>C (p.Met1364Ile)
c.1224G>C (p.Met408Ile)
gnomAD v4
18g.33744108G>TCA402190538ASXL3c.4263G>T (p.Met1421Ile)
c.4260G>T (p.Met1420Ile)
c.4140G>T (p.Met1380Ile)
c.4236G>T (p.Met1412Ile)
c.4182G>T (p.Met1394Ile)
c.4143G>T (p.Met1381Ile)
c.4092G>T (p.Met1364Ile)
c.1224G>T (p.Met408Ile)
18g.33744109C>ACA402190539ASXL3c.4264C>A (p.Leu1422Met)
c.4261C>A (p.Leu1421Met)
c.4141C>A (p.Leu1381Met)
c.4237C>A (p.Leu1413Met)
c.4183C>A (p.Leu1395Met)
c.4144C>A (p.Leu1382Met)
c.4093C>A (p.Leu1365Met)
c.1225C>A (p.Leu409Met)
18g.33744109C=CA2294857996ASXL3c.4264C= (p.Leu1422=)
c.4261C= (p.Leu1421=)
c.4141C= (p.Leu1381=)
c.4237C= (p.Leu1413=)
c.4183C= (p.Leu1395=)
c.4144C= (p.Leu1382=)
c.4093C= (p.Leu1365=)
c.1225C= (p.Leu409=)
18g.33744109C>GCA402190540ASXL3c.4264C>G (p.Leu1422Val)
c.4261C>G (p.Leu1421Val)
c.4141C>G (p.Leu1381Val)
c.4237C>G (p.Leu1413Val)
c.4183C>G (p.Leu1395Val)
c.4144C>G (p.Leu1382Val)
c.4093C>G (p.Leu1365Val)
c.1225C>G (p.Leu409Val)
18g.33744109C>TCA503770365ASXL3c.4264C>T (p.Leu1422=)
c.4261C>T (p.Leu1421=)
c.4141C>T (p.Leu1381=)
c.4237C>T (p.Leu1413=)
c.4183C>T (p.Leu1395=)
c.4144C>T (p.Leu1382=)
c.4093C>T (p.Leu1365=)
c.1225C>T (p.Leu409=)
dbSNP gnomAD v3 gnomAD v4
18g.33744110T>ACA402190541ASXL3c.4265T>A (p.Leu1422Gln)
c.4262T>A (p.Leu1421Gln)
c.4142T>A (p.Leu1381Gln)
c.4238T>A (p.Leu1413Gln)
c.4184T>A (p.Leu1395Gln)
c.4145T>A (p.Leu1382Gln)
c.4094T>A (p.Leu1365Gln)
c.1226T>A (p.Leu409Gln)
18g.33744110T>CCA402190543ASXL3c.4265T>C (p.Leu1422Pro)
c.4262T>C (p.Leu1421Pro)
c.4142T>C (p.Leu1381Pro)
c.4238T>C (p.Leu1413Pro)
c.4184T>C (p.Leu1395Pro)
c.4145T>C (p.Leu1382Pro)
c.4094T>C (p.Leu1365Pro)
c.1226T>C (p.Leu409Pro)
18g.33744110T>GCA402190542ASXL3c.4265T>G (p.Leu1422Arg)
c.4262T>G (p.Leu1421Arg)
c.4142T>G (p.Leu1381Arg)
c.4238T>G (p.Leu1413Arg)
c.4184T>G (p.Leu1395Arg)
c.4145T>G (p.Leu1382Arg)
c.4094T>G (p.Leu1365Arg)
c.1226T>G (p.Leu409Arg)
18g.33744111G>ACA8934217ASXL3c.4266G>A (p.Leu1422=)
c.4263G>A (p.Leu1421=)
c.4143G>A (p.Leu1381=)
c.4239G>A (p.Leu1413=)
c.4185G>A (p.Leu1395=)
c.4146G>A (p.Leu1382=)
c.4095G>A (p.Leu1365=)
c.1227G>A (p.Leu409=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744111G>CCA503770369ASXL3c.4266G>C (p.Leu1422=)
c.4263G>C (p.Leu1421=)
c.4143G>C (p.Leu1381=)
c.4239G>C (p.Leu1413=)
c.4185G>C (p.Leu1395=)
c.4146G>C (p.Leu1382=)
c.4095G>C (p.Leu1365=)
c.1227G>C (p.Leu409=)
18g.33744111G=CA2294857997ASXL3c.4266G= (p.Leu1422=)
c.4263G= (p.Leu1421=)
c.4143G= (p.Leu1381=)
c.4239G= (p.Leu1413=)
c.4185G= (p.Leu1395=)
c.4146G= (p.Leu1382=)
c.4095G= (p.Leu1365=)
c.1227G= (p.Leu409=)
18g.33744111G>TCA503770366ASXL3c.4266G>T (p.Leu1422=)
c.4263G>T (p.Leu1421=)
c.4143G>T (p.Leu1381=)
c.4239G>T (p.Leu1413=)
c.4185G>T (p.Leu1395=)
c.4146G>T (p.Leu1382=)
c.4095G>T (p.Leu1365=)
c.1227G>T (p.Leu409=)
dbSNP gnomAD v3 gnomAD v4
18g.33744112A>CCA402190544ASXL3c.4267A>C (p.Thr1423Pro)
c.4264A>C (p.Thr1422Pro)
c.4144A>C (p.Thr1382Pro)
c.4240A>C (p.Thr1414Pro)
c.4186A>C (p.Thr1396Pro)
c.4147A>C (p.Thr1383Pro)
c.4096A>C (p.Thr1366Pro)
c.1228A>C (p.Thr410Pro)
18g.33744112A>GCA402190545ASXL3c.4267A>G (p.Thr1423Ala)
c.4264A>G (p.Thr1422Ala)
c.4144A>G (p.Thr1382Ala)
c.4240A>G (p.Thr1414Ala)
c.4186A>G (p.Thr1396Ala)
c.4147A>G (p.Thr1383Ala)
c.4096A>G (p.Thr1366Ala)
c.1228A>G (p.Thr410Ala)
18g.33744112A>TCA402190546ASXL3c.4267A>T (p.Thr1423Ser)
c.4264A>T (p.Thr1422Ser)
c.4144A>T (p.Thr1382Ser)
c.4240A>T (p.Thr1414Ser)
c.4186A>T (p.Thr1396Ser)
c.4147A>T (p.Thr1383Ser)
c.4096A>T (p.Thr1366Ser)
c.1228A>T (p.Thr410Ser)
18g.33744113C>ACA8934218ASXL3c.4268C>A (p.Thr1423Lys)
c.4265C>A (p.Thr1422Lys)
c.4145C>A (p.Thr1382Lys)
c.4241C>A (p.Thr1414Lys)
c.4187C>A (p.Thr1396Lys)
c.4148C>A (p.Thr1383Lys)
c.4097C>A (p.Thr1366Lys)
c.1229C>A (p.Thr410Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744113C=CA2294857998ASXL3c.4268C= (p.Thr1423=)
c.4265C= (p.Thr1422=)
c.4145C= (p.Thr1382=)
c.4241C= (p.Thr1414=)
c.4187C= (p.Thr1396=)
c.4148C= (p.Thr1383=)
c.4097C= (p.Thr1366=)
c.1229C= (p.Thr410=)
18g.33744113C>GCA402190547ASXL3c.4268C>G (p.Thr1423Arg)
c.4265C>G (p.Thr1422Arg)
c.4145C>G (p.Thr1382Arg)
c.4241C>G (p.Thr1414Arg)
c.4187C>G (p.Thr1396Arg)
c.4148C>G (p.Thr1383Arg)
c.4097C>G (p.Thr1366Arg)
c.1229C>G (p.Thr410Arg)
18g.33744113C>TCA8934219ASXL3c.4268C>T (p.Thr1423Ile)
c.4265C>T (p.Thr1422Ile)
c.4145C>T (p.Thr1382Ile)
c.4241C>T (p.Thr1414Ile)
c.4187C>T (p.Thr1396Ile)
c.4148C>T (p.Thr1383Ile)
c.4097C>T (p.Thr1366Ile)
c.1229C>T (p.Thr410Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744114A=CA2294857999ASXL3c.4269A= (p.Thr1423=)
c.4266A= (p.Thr1422=)
c.4146A= (p.Thr1382=)
c.4242A= (p.Thr1414=)
c.4188A= (p.Thr1396=)
c.4149A= (p.Thr1383=)
c.4098A= (p.Thr1366=)
c.1230A= (p.Thr410=)
18g.33744114A>CCA503770374ASXL3c.4269A>C (p.Thr1423=)
c.4266A>C (p.Thr1422=)
c.4146A>C (p.Thr1382=)
c.4242A>C (p.Thr1414=)
c.4188A>C (p.Thr1396=)
c.4149A>C (p.Thr1383=)
c.4098A>C (p.Thr1366=)
c.1230A>C (p.Thr410=)
18g.33744114A>GCA8934220ASXL3c.4269A>G (p.Thr1423=)
c.4266A>G (p.Thr1422=)
c.4146A>G (p.Thr1382=)
c.4242A>G (p.Thr1414=)
c.4188A>G (p.Thr1396=)
c.4149A>G (p.Thr1383=)
c.4098A>G (p.Thr1366=)
c.1230A>G (p.Thr410=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744114A>TCA503770376ASXL3c.4269A>T (p.Thr1423=)
c.4266A>T (p.Thr1422=)
c.4146A>T (p.Thr1382=)
c.4242A>T (p.Thr1414=)
c.4188A>T (p.Thr1396=)
c.4149A>T (p.Thr1383=)
c.4098A>T (p.Thr1366=)
c.1230A>T (p.Thr410=)
18g.33744115A>CCA402190548ASXL3c.4270A>C (p.Ile1424Leu)
c.4267A>C (p.Ile1423Leu)
c.4147A>C (p.Ile1383Leu)
c.4243A>C (p.Ile1415Leu)
c.4189A>C (p.Ile1397Leu)
c.4150A>C (p.Ile1384Leu)
c.4099A>C (p.Ile1367Leu)
c.1231A>C (p.Ile411Leu)
18g.33744115A>GCA402190549ASXL3c.4270A>G (p.Ile1424Val)
c.4267A>G (p.Ile1423Val)
c.4147A>G (p.Ile1383Val)
c.4243A>G (p.Ile1415Val)
c.4189A>G (p.Ile1397Val)
c.4150A>G (p.Ile1384Val)
c.4099A>G (p.Ile1367Val)
c.1231A>G (p.Ile411Val)
gnomAD v4
18g.33744115A>TCA402190550ASXL3c.4270A>T (p.Ile1424Leu)
c.4267A>T (p.Ile1423Leu)
c.4147A>T (p.Ile1383Leu)
c.4243A>T (p.Ile1415Leu)
c.4189A>T (p.Ile1397Leu)
c.4150A>T (p.Ile1384Leu)
c.4099A>T (p.Ile1367Leu)
c.1231A>T (p.Ile411Leu)
18g.33744116T>ACA402190553ASXL3c.4271T>A (p.Ile1424Lys)
c.4268T>A (p.Ile1423Lys)
c.4148T>A (p.Ile1383Lys)
c.4244T>A (p.Ile1415Lys)
c.4190T>A (p.Ile1397Lys)
c.4151T>A (p.Ile1384Lys)
c.4100T>A (p.Ile1367Lys)
c.1232T>A (p.Ile411Lys)
18g.33744116T>CCA402190552ASXL3c.4271T>C (p.Ile1424Thr)
c.4268T>C (p.Ile1423Thr)
c.4148T>C (p.Ile1383Thr)
c.4244T>C (p.Ile1415Thr)
c.4190T>C (p.Ile1397Thr)
c.4151T>C (p.Ile1384Thr)
c.4100T>C (p.Ile1367Thr)
c.1232T>C (p.Ile411Thr)
dbSNP gnomAD v3 gnomAD v4
18g.33744116T>GCA402190551ASXL3c.4271T>G (p.Ile1424Arg)
c.4268T>G (p.Ile1423Arg)
c.4148T>G (p.Ile1383Arg)
c.4244T>G (p.Ile1415Arg)
c.4190T>G (p.Ile1397Arg)
c.4151T>G (p.Ile1384Arg)
c.4100T>G (p.Ile1367Arg)
c.1232T>G (p.Ile411Arg)
18g.33744116T=CA2294858000ASXL3c.4271T= (p.Ile1424=)
c.4268T= (p.Ile1423=)
c.4148T= (p.Ile1383=)
c.4244T= (p.Ile1415=)
c.4190T= (p.Ile1397=)
c.4151T= (p.Ile1384=)
c.4100T= (p.Ile1367=)
c.1232T= (p.Ile411=)
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)
ClinVar 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=)

Number of alleles fetched