Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744011G>ACA8934186ASXL3c.4166G>A (p.Gly1389Asp)
c.4163G>A (p.Gly1388Asp)
c.4043G>A (p.Gly1348Asp)
c.4139G>A (p.Gly1380Asp)
c.4085G>A (p.Gly1362Asp)
c.4046G>A (p.Gly1349Asp)
c.3995G>A (p.Gly1332Asp)
c.1127G>A (p.Gly376Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744011G>CCA402190309ASXL3c.4166G>C (p.Gly1389Ala)
c.4163G>C (p.Gly1388Ala)
c.4043G>C (p.Gly1348Ala)
c.4139G>C (p.Gly1380Ala)
c.4085G>C (p.Gly1362Ala)
c.4046G>C (p.Gly1349Ala)
c.3995G>C (p.Gly1332Ala)
c.1127G>C (p.Gly376Ala)
18g.33744011G=CA2294857944ASXL3c.4166G= (p.Gly1389=)
c.4163G= (p.Gly1388=)
c.4043G= (p.Gly1348=)
c.4139G= (p.Gly1380=)
c.4085G= (p.Gly1362=)
c.4046G= (p.Gly1349=)
c.3995G= (p.Gly1332=)
c.1127G= (p.Gly376=)
18g.33744011G>TCA8934187ASXL3c.4166G>T (p.Gly1389Val)
c.4163G>T (p.Gly1388Val)
c.4043G>T (p.Gly1348Val)
c.4139G>T (p.Gly1380Val)
c.4085G>T (p.Gly1362Val)
c.4046G>T (p.Gly1349Val)
c.3995G>T (p.Gly1332Val)
c.1127G>T (p.Gly376Val)
 dbSNP ExAC gnomAD v2
18g.33744012T>ACA503770053ASXL3c.4167T>A (p.Gly1389=)
c.4164T>A (p.Gly1388=)
c.4044T>A (p.Gly1348=)
c.4140T>A (p.Gly1380=)
c.4086T>A (p.Gly1362=)
c.4047T>A (p.Gly1349=)
c.3996T>A (p.Gly1332=)
c.1128T>A (p.Gly376=)
18g.33744012T>CCA503770055ASXL3c.4167T>C (p.Gly1389=)
c.4164T>C (p.Gly1388=)
c.4044T>C (p.Gly1348=)
c.4140T>C (p.Gly1380=)
c.4086T>C (p.Gly1362=)
c.4047T>C (p.Gly1349=)
c.3996T>C (p.Gly1332=)
c.1128T>C (p.Gly376=)
18g.33744012T>GCA503770057ASXL3c.4167T>G (p.Gly1389=)
c.4164T>G (p.Gly1388=)
c.4044T>G (p.Gly1348=)
c.4140T>G (p.Gly1380=)
c.4086T>G (p.Gly1362=)
c.4047T>G (p.Gly1349=)
c.3996T>G (p.Gly1332=)
c.1128T>G (p.Gly376=)
18g.33744012dupCA1139666035ASXL3c.4167dup (p.Thr1390TyrfsTer11)
c.4164dup (p.Thr1389TyrfsTer11)
c.4044dup (p.Thr1349TyrfsTer11)
c.4140dup (p.Thr1381TyrfsTer11)
c.4086dup (p.Thr1363TyrfsTer11)
c.4047dup (p.Thr1350TyrfsTer11)
c.3996dup (p.Thr1333TyrfsTer11)
c.1128dup (p.Thr377TyrfsTer11)
 ClinVar dbSNP
18g.33744013A>CCA402190311ASXL3c.4168A>C (p.Thr1390Pro)
c.4165A>C (p.Thr1389Pro)
c.4045A>C (p.Thr1349Pro)
c.4141A>C (p.Thr1381Pro)
c.4087A>C (p.Thr1363Pro)
c.4048A>C (p.Thr1350Pro)
c.3997A>C (p.Thr1333Pro)
c.1129A>C (p.Thr377Pro)
18g.33744013A>GCA402190312ASXL3c.4168A>G (p.Thr1390Ala)
c.4165A>G (p.Thr1389Ala)
c.4045A>G (p.Thr1349Ala)
c.4141A>G (p.Thr1381Ala)
c.4087A>G (p.Thr1363Ala)
c.4048A>G (p.Thr1350Ala)
c.3997A>G (p.Thr1333Ala)
c.1129A>G (p.Thr377Ala)
18g.33744013A>TCA402190310ASXL3c.4168A>T (p.Thr1390Ser)
c.4165A>T (p.Thr1389Ser)
c.4045A>T (p.Thr1349Ser)
c.4141A>T (p.Thr1381Ser)
c.4087A>T (p.Thr1363Ser)
c.4048A>T (p.Thr1350Ser)
c.3997A>T (p.Thr1333Ser)
c.1129A>T (p.Thr377Ser)
18g.33744014C>ACA402190313ASXL3c.4169C>A (p.Thr1390Asn)
c.4166C>A (p.Thr1389Asn)
c.4046C>A (p.Thr1349Asn)
c.4142C>A (p.Thr1381Asn)
c.4088C>A (p.Thr1363Asn)
c.4049C>A (p.Thr1350Asn)
c.3998C>A (p.Thr1333Asn)
c.1130C>A (p.Thr377Asn)
18g.33744014C=CA2294857945ASXL3c.4169C= (p.Thr1390=)
c.4166C= (p.Thr1389=)
c.4046C= (p.Thr1349=)
c.4142C= (p.Thr1381=)
c.4088C= (p.Thr1363=)
c.4049C= (p.Thr1350=)
c.3998C= (p.Thr1333=)
c.1130C= (p.Thr377=)
18g.33744014C>GCA402190314ASXL3c.4169C>G (p.Thr1390Ser)
c.4166C>G (p.Thr1389Ser)
c.4046C>G (p.Thr1349Ser)
c.4142C>G (p.Thr1381Ser)
c.4088C>G (p.Thr1363Ser)
c.4049C>G (p.Thr1350Ser)
c.3998C>G (p.Thr1333Ser)
c.1130C>G (p.Thr377Ser)
18g.33744014C>TCA402190315ASXL3c.4169C>T (p.Thr1390Ile)
c.4166C>T (p.Thr1389Ile)
c.4046C>T (p.Thr1349Ile)
c.4142C>T (p.Thr1381Ile)
c.4088C>T (p.Thr1363Ile)
c.4049C>T (p.Thr1350Ile)
c.3998C>T (p.Thr1333Ile)
c.1130C>T (p.Thr377Ile)
 dbSNP gnomAD v4
18g.33744014_33744015delinsAACA645603031ASXL3c.4169_4170delinsAA (p.Thr1390Lys)
c.4166_4167delinsAA (p.Thr1389Lys)
c.4046_4047delinsAA (p.Thr1349Lys)
c.4142_4143delinsAA (p.Thr1381Lys)
c.4088_4089delinsAA (p.Thr1363Lys)
c.4049_4050delinsAA (p.Thr1350Lys)
c.3998_3999delinsAA (p.Thr1333Lys)
c.1130_1131delinsAA (p.Thr377Lys)
 COSMIC
18g.33744015C>ACA503770063ASXL3c.4170C>A (p.Thr1390=)
c.4167C>A (p.Thr1389=)
c.4047C>A (p.Thr1349=)
c.4143C>A (p.Thr1381=)
c.4089C>A (p.Thr1363=)
c.4050C>A (p.Thr1350=)
c.3999C>A (p.Thr1333=)
c.1131C>A (p.Thr377=)
 dbSNP gnomAD v2 gnomAD v4
18g.33744015C=CA2294857946ASXL3c.4170C= (p.Thr1390=)
c.4167C= (p.Thr1389=)
c.4047C= (p.Thr1349=)
c.4143C= (p.Thr1381=)
c.4089C= (p.Thr1363=)
c.4050C= (p.Thr1350=)
c.3999C= (p.Thr1333=)
c.1131C= (p.Thr377=)
18g.33744015C>GCA503770065ASXL3c.4170C>G (p.Thr1390=)
c.4167C>G (p.Thr1389=)
c.4047C>G (p.Thr1349=)
c.4143C>G (p.Thr1381=)
c.4089C>G (p.Thr1363=)
c.4050C>G (p.Thr1350=)
c.3999C>G (p.Thr1333=)
c.1131C>G (p.Thr377=)
18g.33744015C>TCA297793403ASXL3c.4170C>T (p.Thr1390=)
c.4167C>T (p.Thr1389=)
c.4047C>T (p.Thr1349=)
c.4143C>T (p.Thr1381=)
c.4089C>T (p.Thr1363=)
c.4050C>T (p.Thr1350=)
c.3999C>T (p.Thr1333=)
c.1131C>T (p.Thr377=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744016A>CCA402190316ASXL3c.4171A>C (p.Thr1391Pro)
c.4168A>C (p.Thr1390Pro)
c.4048A>C (p.Thr1350Pro)
c.4144A>C (p.Thr1382Pro)
c.4090A>C (p.Thr1364Pro)
c.4051A>C (p.Thr1351Pro)
c.4000A>C (p.Thr1334Pro)
c.1132A>C (p.Thr378Pro)
18g.33744016A>GCA402190317ASXL3c.4171A>G (p.Thr1391Ala)
c.4168A>G (p.Thr1390Ala)
c.4048A>G (p.Thr1350Ala)
c.4144A>G (p.Thr1382Ala)
c.4090A>G (p.Thr1364Ala)
c.4051A>G (p.Thr1351Ala)
c.4000A>G (p.Thr1334Ala)
c.1132A>G (p.Thr378Ala)
18g.33744016A>TCA402190318ASXL3c.4171A>T (p.Thr1391Ser)
c.4168A>T (p.Thr1390Ser)
c.4048A>T (p.Thr1350Ser)
c.4144A>T (p.Thr1382Ser)
c.4090A>T (p.Thr1364Ser)
c.4051A>T (p.Thr1351Ser)
c.4000A>T (p.Thr1334Ser)
c.1132A>T (p.Thr378Ser)
18g.33744017C>ACA402190319ASXL3c.4172C>A (p.Thr1391Asn)
c.4169C>A (p.Thr1390Asn)
c.4049C>A (p.Thr1350Asn)
c.4145C>A (p.Thr1382Asn)
c.4091C>A (p.Thr1364Asn)
c.4052C>A (p.Thr1351Asn)
c.4001C>A (p.Thr1334Asn)
c.1133C>A (p.Thr378Asn)
18g.33744017C=CA2294857947ASXL3c.4172C= (p.Thr1391=)
c.4169C= (p.Thr1390=)
c.4049C= (p.Thr1350=)
c.4145C= (p.Thr1382=)
c.4091C= (p.Thr1364=)
c.4052C= (p.Thr1351=)
c.4001C= (p.Thr1334=)
c.1133C= (p.Thr378=)
18g.33744017C>GCA402190320ASXL3c.4172C>G (p.Thr1391Ser)
c.4169C>G (p.Thr1390Ser)
c.4049C>G (p.Thr1350Ser)
c.4145C>G (p.Thr1382Ser)
c.4091C>G (p.Thr1364Ser)
c.4052C>G (p.Thr1351Ser)
c.4001C>G (p.Thr1334Ser)
c.1133C>G (p.Thr378Ser)
18g.33744017C>TCA8934188ASXL3c.4172C>T (p.Thr1391Ile)
c.4169C>T (p.Thr1390Ile)
c.4049C>T (p.Thr1350Ile)
c.4145C>T (p.Thr1382Ile)
c.4091C>T (p.Thr1364Ile)
c.4052C>T (p.Thr1351Ile)
c.4001C>T (p.Thr1334Ile)
c.1133C>T (p.Thr378Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744018T>ACA503770072ASXL3c.4173T>A (p.Thr1391=)
c.4170T>A (p.Thr1390=)
c.4050T>A (p.Thr1350=)
c.4146T>A (p.Thr1382=)
c.4092T>A (p.Thr1364=)
c.4053T>A (p.Thr1351=)
c.4002T>A (p.Thr1334=)
c.1134T>A (p.Thr378=)
18g.33744018T>CCA8934189ASXL3c.4173T>C (p.Thr1391=)
c.4170T>C (p.Thr1390=)
c.4050T>C (p.Thr1350=)
c.4146T>C (p.Thr1382=)
c.4092T>C (p.Thr1364=)
c.4053T>C (p.Thr1351=)
c.4002T>C (p.Thr1334=)
c.1134T>C (p.Thr378=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744018T>GCA503770073ASXL3c.4173T>G (p.Thr1391=)
c.4170T>G (p.Thr1390=)
c.4050T>G (p.Thr1350=)
c.4146T>G (p.Thr1382=)
c.4092T>G (p.Thr1364=)
c.4053T>G (p.Thr1351=)
c.4002T>G (p.Thr1334=)
c.1134T>G (p.Thr378=)
18g.33744018T=CA2294857948ASXL3c.4173T= (p.Thr1391=)
c.4170T= (p.Thr1390=)
c.4050T= (p.Thr1350=)
c.4146T= (p.Thr1382=)
c.4092T= (p.Thr1364=)
c.4053T= (p.Thr1351=)
c.4002T= (p.Thr1334=)
c.1134T= (p.Thr378=)
18g.33744018dupCA658653631ASXL3c.4173dup (p.Val1392CysfsTer9)
c.4170dup (p.Val1391CysfsTer9)
c.4050dup (p.Val1351CysfsTer9)
c.4146dup (p.Val1383CysfsTer9)
c.4092dup (p.Val1365CysfsTer9)
c.4053dup (p.Val1352CysfsTer9)
c.4002dup (p.Val1335CysfsTer9)
c.1134dup (p.Val379CysfsTer9)
 dbSNP
18g.33744020_33744021delCA2695227402ASXL3c.4175_4176del (p.Val1392GlufsTer8)
c.4172_4173del (p.Val1391GlufsTer8)
c.4052_4053del (p.Val1351GlufsTer8)
c.4148_4149del (p.Val1383GlufsTer8)
c.4094_4095del (p.Val1365GlufsTer8)
c.4055_4056del (p.Val1352GlufsTer8)
c.4004_4005del (p.Val1335GlufsTer8)
c.1136_1137del (p.Val379GlufsTer8)
18g.33744019G>ACA402190321ASXL3c.4174G>A (p.Val1392Met)
c.4171G>A (p.Val1391Met)
c.4051G>A (p.Val1351Met)
c.4147G>A (p.Val1383Met)
c.4093G>A (p.Val1365Met)
c.4054G>A (p.Val1352Met)
c.4003G>A (p.Val1335Met)
c.1135G>A (p.Val379Met)
 gnomAD v4
18g.33744019G>CCA402190322ASXL3c.4174G>C (p.Val1392Leu)
c.4171G>C (p.Val1391Leu)
c.4051G>C (p.Val1351Leu)
c.4147G>C (p.Val1383Leu)
c.4093G>C (p.Val1365Leu)
c.4054G>C (p.Val1352Leu)
c.4003G>C (p.Val1335Leu)
c.1135G>C (p.Val379Leu)
 dbSNP
18g.33744019G=CA2294857949ASXL3c.4174G= (p.Val1392=)
c.4171G= (p.Val1391=)
c.4051G= (p.Val1351=)
c.4147G= (p.Val1383=)
c.4093G= (p.Val1365=)
c.4054G= (p.Val1352=)
c.4003G= (p.Val1335=)
c.1135G= (p.Val379=)
18g.33744019G>TCA402190323ASXL3c.4174G>T (p.Val1392Leu)
c.4171G>T (p.Val1391Leu)
c.4051G>T (p.Val1351Leu)
c.4147G>T (p.Val1383Leu)
c.4093G>T (p.Val1365Leu)
c.4054G>T (p.Val1352Leu)
c.4003G>T (p.Val1335Leu)
c.1135G>T (p.Val379Leu)
18g.33744020T>ACA402190324ASXL3c.4175T>A (p.Val1392Glu)
c.4172T>A (p.Val1391Glu)
c.4052T>A (p.Val1351Glu)
c.4148T>A (p.Val1383Glu)
c.4094T>A (p.Val1365Glu)
c.4055T>A (p.Val1352Glu)
c.4004T>A (p.Val1335Glu)
c.1136T>A (p.Val379Glu)
 gnomAD v4
18g.33744020T>CCA402190327ASXL3c.4175T>C (p.Val1392Ala)
c.4172T>C (p.Val1391Ala)
c.4052T>C (p.Val1351Ala)
c.4148T>C (p.Val1383Ala)
c.4094T>C (p.Val1365Ala)
c.4055T>C (p.Val1352Ala)
c.4004T>C (p.Val1335Ala)
c.1136T>C (p.Val379Ala)
18g.33744020T>GCA402190325ASXL3c.4175T>G (p.Val1392Gly)
c.4172T>G (p.Val1391Gly)
c.4052T>G (p.Val1351Gly)
c.4148T>G (p.Val1383Gly)
c.4094T>G (p.Val1365Gly)
c.4055T>G (p.Val1352Gly)
c.4004T>G (p.Val1335Gly)
c.1136T>G (p.Val379Gly)
 gnomAD v4
18g.33744021G>ACA503770075ASXL3c.4176G>A (p.Val1392=)
c.4173G>A (p.Val1391=)
c.4053G>A (p.Val1351=)
c.4149G>A (p.Val1383=)
c.4095G>A (p.Val1365=)
c.4056G>A (p.Val1352=)
c.4005G>A (p.Val1335=)
c.1137G>A (p.Val379=)
 gnomAD v4
18g.33744021G>CCA503770076ASXL3c.4176G>C (p.Val1392=)
c.4173G>C (p.Val1391=)
c.4053G>C (p.Val1351=)
c.4149G>C (p.Val1383=)
c.4095G>C (p.Val1365=)
c.4056G>C (p.Val1352=)
c.4005G>C (p.Val1335=)
c.1137G>C (p.Val379=)
18g.33744021G>TCA503770079ASXL3c.4176G>T (p.Val1392=)
c.4173G>T (p.Val1391=)
c.4053G>T (p.Val1351=)
c.4149G>T (p.Val1383=)
c.4095G>T (p.Val1365=)
c.4056G>T (p.Val1352=)
c.4005G>T (p.Val1335=)
c.1137G>T (p.Val379=)
18g.33744022A=CA2294857950ASXL3c.4177A= (p.Arg1393=)
c.4174A= (p.Arg1392=)
c.4054A= (p.Arg1352=)
c.4150A= (p.Arg1384=)
c.4096A= (p.Arg1366=)
c.4057A= (p.Arg1353=)
c.4006A= (p.Arg1336=)
c.1138A= (p.Arg380=)
18g.33744022A>CCA503770082ASXL3c.4177A>C (p.Arg1393=)
c.4174A>C (p.Arg1392=)
c.4054A>C (p.Arg1352=)
c.4150A>C (p.Arg1384=)
c.4096A>C (p.Arg1366=)
c.4057A>C (p.Arg1353=)
c.4006A>C (p.Arg1336=)
c.1138A>C (p.Arg380=)
18g.33744022A>GCA297793413ASXL3c.4177A>G (p.Arg1393Gly)
c.4174A>G (p.Arg1392Gly)
c.4054A>G (p.Arg1352Gly)
c.4150A>G (p.Arg1384Gly)
c.4096A>G (p.Arg1366Gly)
c.4057A>G (p.Arg1353Gly)
c.4006A>G (p.Arg1336Gly)
c.1138A>G (p.Arg380Gly)
 dbSNP gnomAD v3 gnomAD v4
18g.33744022A>TCA402190330ASXL3c.4177A>T (p.Arg1393Ter)
c.4174A>T (p.Arg1392Ter)
c.4054A>T (p.Arg1352Ter)
c.4150A>T (p.Arg1384Ter)
c.4096A>T (p.Arg1366Ter)
c.4057A>T (p.Arg1353Ter)
c.4006A>T (p.Arg1336Ter)
c.1138A>T (p.Arg380Ter)
18g.33744023G>ACA402190333ASXL3c.4178G>A (p.Arg1393Lys)
c.4175G>A (p.Arg1392Lys)
c.4055G>A (p.Arg1352Lys)
c.4151G>A (p.Arg1384Lys)
c.4097G>A (p.Arg1366Lys)
c.4058G>A (p.Arg1353Lys)
c.4007G>A (p.Arg1336Lys)
c.1139G>A (p.Arg380Lys)
 dbSNP
18g.33744023G>CCA402190335ASXL3c.4178G>C (p.Arg1393Thr)
c.4175G>C (p.Arg1392Thr)
c.4055G>C (p.Arg1352Thr)
c.4151G>C (p.Arg1384Thr)
c.4097G>C (p.Arg1366Thr)
c.4058G>C (p.Arg1353Thr)
c.4007G>C (p.Arg1336Thr)
c.1139G>C (p.Arg380Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744023G=CA2294857951ASXL3c.4178G= (p.Arg1393=)
c.4175G= (p.Arg1392=)
c.4055G= (p.Arg1352=)
c.4151G= (p.Arg1384=)
c.4097G= (p.Arg1366=)
c.4058G= (p.Arg1353=)
c.4007G= (p.Arg1336=)
c.1139G= (p.Arg380=)
18g.33744023G>TCA402190337ASXL3c.4178G>T (p.Arg1393Ile)
c.4175G>T (p.Arg1392Ile)
c.4055G>T (p.Arg1352Ile)
c.4151G>T (p.Arg1384Ile)
c.4097G>T (p.Arg1366Ile)
c.4058G>T (p.Arg1353Ile)
c.4007G>T (p.Arg1336Ile)
c.1139G>T (p.Arg380Ile)
18g.33744024A=CA2294857952ASXL3c.4179A= (p.Arg1393=)
c.4176A= (p.Arg1392=)
c.4056A= (p.Arg1352=)
c.4152A= (p.Arg1384=)
c.4098A= (p.Arg1366=)
c.4059A= (p.Arg1353=)
c.4008A= (p.Arg1336=)
c.1140A= (p.Arg380=)
18g.33744024A>CCA402190339ASXL3c.4179A>C (p.Arg1393Ser)
c.4176A>C (p.Arg1392Ser)
c.4056A>C (p.Arg1352Ser)
c.4152A>C (p.Arg1384Ser)
c.4098A>C (p.Arg1366Ser)
c.4059A>C (p.Arg1353Ser)
c.4008A>C (p.Arg1336Ser)
c.1140A>C (p.Arg380Ser)
 dbSNP gnomAD v2
18g.33744024A>GCA503770095ASXL3c.4179A>G (p.Arg1393=)
c.4176A>G (p.Arg1392=)
c.4056A>G (p.Arg1352=)
c.4152A>G (p.Arg1384=)
c.4098A>G (p.Arg1366=)
c.4059A>G (p.Arg1353=)
c.4008A>G (p.Arg1336=)
c.1140A>G (p.Arg380=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744024A>TCA402190341ASXL3c.4179A>T (p.Arg1393Ser)
c.4176A>T (p.Arg1392Ser)
c.4056A>T (p.Arg1352Ser)
c.4152A>T (p.Arg1384Ser)
c.4098A>T (p.Arg1366Ser)
c.4059A>T (p.Arg1353Ser)
c.4008A>T (p.Arg1336Ser)
c.1140A>T (p.Arg380Ser)
18g.33744025G>ACA402190342ASXL3c.4180G>A (p.Ala1394Thr)
c.4177G>A (p.Ala1393Thr)
c.4057G>A (p.Ala1353Thr)
c.4153G>A (p.Ala1385Thr)
c.4099G>A (p.Ala1367Thr)
c.4060G>A (p.Ala1354Thr)
c.4009G>A (p.Ala1337Thr)
c.1141G>A (p.Ala381Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744025G>CCA402190343ASXL3c.4180G>C (p.Ala1394Pro)
c.4177G>C (p.Ala1393Pro)
c.4057G>C (p.Ala1353Pro)
c.4153G>C (p.Ala1385Pro)
c.4099G>C (p.Ala1367Pro)
c.4060G>C (p.Ala1354Pro)
c.4009G>C (p.Ala1337Pro)
c.1141G>C (p.Ala381Pro)
18g.33744025G=CA2294857953ASXL3c.4180G= (p.Ala1394=)
c.4177G= (p.Ala1393=)
c.4057G= (p.Ala1353=)
c.4153G= (p.Ala1385=)
c.4099G= (p.Ala1367=)
c.4060G= (p.Ala1354=)
c.4009G= (p.Ala1337=)
c.1141G= (p.Ala381=)
18g.33744025G>TCA402190345ASXL3c.4180G>T (p.Ala1394Ser)
c.4177G>T (p.Ala1393Ser)
c.4057G>T (p.Ala1353Ser)
c.4153G>T (p.Ala1385Ser)
c.4099G>T (p.Ala1367Ser)
c.4060G>T (p.Ala1354Ser)
c.4009G>T (p.Ala1337Ser)
c.1141G>T (p.Ala381Ser)
18g.33744026C>ACA402190347ASXL3c.4181C>A (p.Ala1394Glu)
c.4178C>A (p.Ala1393Glu)
c.4058C>A (p.Ala1353Glu)
c.4154C>A (p.Ala1385Glu)
c.4100C>A (p.Ala1367Glu)
c.4061C>A (p.Ala1354Glu)
c.4010C>A (p.Ala1337Glu)
c.1142C>A (p.Ala381Glu)
18g.33744026C=CA2294857954ASXL3c.4181C= (p.Ala1394=)
c.4178C= (p.Ala1393=)
c.4058C= (p.Ala1353=)
c.4154C= (p.Ala1385=)
c.4100C= (p.Ala1367=)
c.4061C= (p.Ala1354=)
c.4010C= (p.Ala1337=)
c.1142C= (p.Ala381=)
18g.33744026C>GCA402190349ASXL3c.4181C>G (p.Ala1394Gly)
c.4178C>G (p.Ala1393Gly)
c.4058C>G (p.Ala1353Gly)
c.4154C>G (p.Ala1385Gly)
c.4100C>G (p.Ala1367Gly)
c.4061C>G (p.Ala1354Gly)
c.4010C>G (p.Ala1337Gly)
c.1142C>G (p.Ala381Gly)
 gnomAD v4
18g.33744026C>TCA8934190ASXL3c.4181C>T (p.Ala1394Val)
c.4178C>T (p.Ala1393Val)
c.4058C>T (p.Ala1353Val)
c.4154C>T (p.Ala1385Val)
c.4100C>T (p.Ala1367Val)
c.4061C>T (p.Ala1354Val)
c.4010C>T (p.Ala1337Val)
c.1142C>T (p.Ala381Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744027A>CCA503770107ASXL3c.4182A>C (p.Ala1394=)
c.4179A>C (p.Ala1393=)
c.4059A>C (p.Ala1353=)
c.4155A>C (p.Ala1385=)
c.4101A>C (p.Ala1367=)
c.4062A>C (p.Ala1354=)
c.4011A>C (p.Ala1337=)
c.1143A>C (p.Ala381=)
18g.33744027A>GCA503770110ASXL3c.4182A>G (p.Ala1394=)
c.4179A>G (p.Ala1393=)
c.4059A>G (p.Ala1353=)
c.4155A>G (p.Ala1385=)
c.4101A>G (p.Ala1367=)
c.4062A>G (p.Ala1354=)
c.4011A>G (p.Ala1337=)
c.1143A>G (p.Ala381=)
18g.33744027A>TCA503770112ASXL3c.4182A>T (p.Ala1394=)
c.4179A>T (p.Ala1393=)
c.4059A>T (p.Ala1353=)
c.4155A>T (p.Ala1385=)
c.4101A>T (p.Ala1367=)
c.4062A>T (p.Ala1354=)
c.4011A>T (p.Ala1337=)
c.1143A>T (p.Ala381=)
18g.33744028G>ACA402190355ASXL3c.4183G>A (p.Ala1395Thr)
c.4180G>A (p.Ala1394Thr)
c.4060G>A (p.Ala1354Thr)
c.4156G>A (p.Ala1386Thr)
c.4102G>A (p.Ala1368Thr)
c.4063G>A (p.Ala1355Thr)
c.4012G>A (p.Ala1338Thr)
c.1144G>A (p.Ala382Thr)
 gnomAD v4
18g.33744028G>CCA402190358ASXL3c.4183G>C (p.Ala1395Pro)
c.4180G>C (p.Ala1394Pro)
c.4060G>C (p.Ala1354Pro)
c.4156G>C (p.Ala1386Pro)
c.4102G>C (p.Ala1368Pro)
c.4063G>C (p.Ala1355Pro)
c.4012G>C (p.Ala1338Pro)
c.1144G>C (p.Ala382Pro)
18g.33744028G>TCA402190353ASXL3c.4183G>T (p.Ala1395Ser)
c.4180G>T (p.Ala1394Ser)
c.4060G>T (p.Ala1354Ser)
c.4156G>T (p.Ala1386Ser)
c.4102G>T (p.Ala1368Ser)
c.4063G>T (p.Ala1355Ser)
c.4012G>T (p.Ala1338Ser)
c.1144G>T (p.Ala382Ser)
18g.33744028_33744029delCA2695227403ASXL3c.4183_4184del (p.Ala1395ProfsTer5)
c.4180_4181del (p.Ala1394ProfsTer5)
c.4060_4061del (p.Ala1354ProfsTer5)
c.4156_4157del (p.Ala1386ProfsTer5)
c.4102_4103del (p.Ala1368ProfsTer5)
c.4063_4064del (p.Ala1355ProfsTer5)
c.4012_4013del (p.Ala1338ProfsTer5)
c.1144_1145del (p.Ala382ProfsTer5)
18g.33744029C>ACA402190363ASXL3c.4184C>A (p.Ala1395Asp)
c.4181C>A (p.Ala1394Asp)
c.4061C>A (p.Ala1354Asp)
c.4157C>A (p.Ala1386Asp)
c.4103C>A (p.Ala1368Asp)
c.4064C>A (p.Ala1355Asp)
c.4013C>A (p.Ala1338Asp)
c.1145C>A (p.Ala382Asp)
18g.33744029C>GCA402190361ASXL3c.4184C>G (p.Ala1395Gly)
c.4181C>G (p.Ala1394Gly)
c.4061C>G (p.Ala1354Gly)
c.4157C>G (p.Ala1386Gly)
c.4103C>G (p.Ala1368Gly)
c.4064C>G (p.Ala1355Gly)
c.4013C>G (p.Ala1338Gly)
c.1145C>G (p.Ala382Gly)
18g.33744029C>TCA402190365ASXL3c.4184C>T (p.Ala1395Val)
c.4181C>T (p.Ala1394Val)
c.4061C>T (p.Ala1354Val)
c.4157C>T (p.Ala1386Val)
c.4103C>T (p.Ala1368Val)
c.4064C>T (p.Ala1355Val)
c.4013C>T (p.Ala1338Val)
c.1145C>T (p.Ala382Val)
18g.33744030C>ACA503770118ASXL3c.4185C>A (p.Ala1395=)
c.4182C>A (p.Ala1394=)
c.4062C>A (p.Ala1354=)
c.4158C>A (p.Ala1386=)
c.4104C>A (p.Ala1368=)
c.4065C>A (p.Ala1355=)
c.4014C>A (p.Ala1338=)
c.1146C>A (p.Ala382=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744030C=CA2294857955ASXL3c.4185C= (p.Ala1395=)
c.4182C= (p.Ala1394=)
c.4062C= (p.Ala1354=)
c.4158C= (p.Ala1386=)
c.4104C= (p.Ala1368=)
c.4065C= (p.Ala1355=)
c.4014C= (p.Ala1338=)
c.1146C= (p.Ala382=)
18g.33744030C>GCA503770116ASXL3c.4185C>G (p.Ala1395=)
c.4182C>G (p.Ala1394=)
c.4062C>G (p.Ala1354=)
c.4158C>G (p.Ala1386=)
c.4104C>G (p.Ala1368=)
c.4065C>G (p.Ala1355=)
c.4014C>G (p.Ala1338=)
c.1146C>G (p.Ala382=)
 gnomAD v4
18g.33744030C>TCA503770117ASXL3c.4185C>T (p.Ala1395=)
c.4182C>T (p.Ala1394=)
c.4062C>T (p.Ala1354=)
c.4158C>T (p.Ala1386=)
c.4104C>T (p.Ala1368=)
c.4065C>T (p.Ala1355=)
c.4014C>T (p.Ala1338=)
c.1146C>T (p.Ala382=)
18g.33744031C>ACA402190369ASXL3c.4186C>A (p.Leu1396Ile)
c.4183C>A (p.Leu1395Ile)
c.4063C>A (p.Leu1355Ile)
c.4159C>A (p.Leu1387Ile)
c.4105C>A (p.Leu1369Ile)
c.4066C>A (p.Leu1356Ile)
c.4015C>A (p.Leu1339Ile)
c.1147C>A (p.Leu383Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.33744031C=CA2294857956ASXL3c.4186C= (p.Leu1396=)
c.4183C= (p.Leu1395=)
c.4063C= (p.Leu1355=)
c.4159C= (p.Leu1387=)
c.4105C= (p.Leu1369=)
c.4066C= (p.Leu1356=)
c.4015C= (p.Leu1339=)
c.1147C= (p.Leu383=)
18g.33744031C>GCA402190372ASXL3c.4186C>G (p.Leu1396Val)
c.4183C>G (p.Leu1395Val)
c.4063C>G (p.Leu1355Val)
c.4159C>G (p.Leu1387Val)
c.4105C>G (p.Leu1369Val)
c.4066C>G (p.Leu1356Val)
c.4015C>G (p.Leu1339Val)
c.1147C>G (p.Leu383Val)
18g.33744031C>TCA8934191ASXL3c.4186C>T (p.Leu1396Phe)
c.4183C>T (p.Leu1395Phe)
c.4063C>T (p.Leu1355Phe)
c.4159C>T (p.Leu1387Phe)
c.4105C>T (p.Leu1369Phe)
c.4066C>T (p.Leu1356Phe)
c.4015C>T (p.Leu1339Phe)
c.1147C>T (p.Leu383Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744032T>ACA402190376ASXL3c.4187T>A (p.Leu1396His)
c.4184T>A (p.Leu1395His)
c.4064T>A (p.Leu1355His)
c.4160T>A (p.Leu1387His)
c.4106T>A (p.Leu1369His)
c.4067T>A (p.Leu1356His)
c.4016T>A (p.Leu1339His)
c.1148T>A (p.Leu383His)
18g.33744032T>CCA402190380ASXL3c.4187T>C (p.Leu1396Pro)
c.4184T>C (p.Leu1395Pro)
c.4064T>C (p.Leu1355Pro)
c.4160T>C (p.Leu1387Pro)
c.4106T>C (p.Leu1369Pro)
c.4067T>C (p.Leu1356Pro)
c.4016T>C (p.Leu1339Pro)
c.1148T>C (p.Leu383Pro)
 gnomAD v4
18g.33744032T>GCA402190377ASXL3c.4187T>G (p.Leu1396Arg)
c.4184T>G (p.Leu1395Arg)
c.4064T>G (p.Leu1355Arg)
c.4160T>G (p.Leu1387Arg)
c.4106T>G (p.Leu1369Arg)
c.4067T>G (p.Leu1356Arg)
c.4016T>G (p.Leu1339Arg)
c.1148T>G (p.Leu383Arg)
18g.33744033C>ACA503770127ASXL3c.4188C>A (p.Leu1396=)
c.4185C>A (p.Leu1395=)
c.4065C>A (p.Leu1355=)
c.4161C>A (p.Leu1387=)
c.4107C>A (p.Leu1369=)
c.4068C>A (p.Leu1356=)
c.4017C>A (p.Leu1339=)
c.1149C>A (p.Leu383=)
18g.33744033C>GCA503770129ASXL3c.4188C>G (p.Leu1396=)
c.4185C>G (p.Leu1395=)
c.4065C>G (p.Leu1355=)
c.4161C>G (p.Leu1387=)
c.4107C>G (p.Leu1369=)
c.4068C>G (p.Leu1356=)
c.4017C>G (p.Leu1339=)
c.1149C>G (p.Leu383=)
18g.33744033C>TCA503770132ASXL3c.4188C>T (p.Leu1396=)
c.4185C>T (p.Leu1395=)
c.4065C>T (p.Leu1355=)
c.4161C>T (p.Leu1387=)
c.4107C>T (p.Leu1369=)
c.4068C>T (p.Leu1356=)
c.4017C>T (p.Leu1339=)
c.1149C>T (p.Leu383=)
18g.33744034A>CCA402190383ASXL3c.4189A>C (p.Ser1397Arg)
c.4186A>C (p.Ser1396Arg)
c.4066A>C (p.Ser1356Arg)
c.4162A>C (p.Ser1388Arg)
c.4108A>C (p.Ser1370Arg)
c.4069A>C (p.Ser1357Arg)
c.4018A>C (p.Ser1340Arg)
c.1150A>C (p.Ser384Arg)
18g.33744034A>GCA402190384ASXL3c.4189A>G (p.Ser1397Gly)
c.4186A>G (p.Ser1396Gly)
c.4066A>G (p.Ser1356Gly)
c.4162A>G (p.Ser1388Gly)
c.4108A>G (p.Ser1370Gly)
c.4069A>G (p.Ser1357Gly)
c.4018A>G (p.Ser1340Gly)
c.1150A>G (p.Ser384Gly)
18g.33744034A>TCA402190387ASXL3c.4189A>T (p.Ser1397Cys)
c.4186A>T (p.Ser1396Cys)
c.4066A>T (p.Ser1356Cys)
c.4162A>T (p.Ser1388Cys)
c.4108A>T (p.Ser1370Cys)
c.4069A>T (p.Ser1357Cys)
c.4018A>T (p.Ser1340Cys)
c.1150A>T (p.Ser384Cys)
18g.33744035G>ACA402190389ASXL3c.4190G>A (p.Ser1397Asn)
c.4187G>A (p.Ser1396Asn)
c.4067G>A (p.Ser1356Asn)
c.4163G>A (p.Ser1388Asn)
c.4109G>A (p.Ser1370Asn)
c.4070G>A (p.Ser1357Asn)
c.4019G>A (p.Ser1340Asn)
c.1151G>A (p.Ser384Asn)
 gnomAD v4 COSMIC
18g.33744035G>CCA8934192ASXL3c.4190G>C (p.Ser1397Thr)
c.4187G>C (p.Ser1396Thr)
c.4067G>C (p.Ser1356Thr)
c.4163G>C (p.Ser1388Thr)
c.4109G>C (p.Ser1370Thr)
c.4070G>C (p.Ser1357Thr)
c.4019G>C (p.Ser1340Thr)
c.1151G>C (p.Ser384Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744035G=CA2294857957ASXL3c.4190G= (p.Ser1397=)
c.4187G= (p.Ser1396=)
c.4067G= (p.Ser1356=)
c.4163G= (p.Ser1388=)
c.4109G= (p.Ser1370=)
c.4070G= (p.Ser1357=)
c.4019G= (p.Ser1340=)
c.1151G= (p.Ser384=)
18g.33744035G>TCA402190390ASXL3c.4190G>T (p.Ser1397Ile)
c.4187G>T (p.Ser1396Ile)
c.4067G>T (p.Ser1356Ile)
c.4163G>T (p.Ser1388Ile)
c.4109G>T (p.Ser1370Ile)
c.4070G>T (p.Ser1357Ile)
c.4019G>T (p.Ser1340Ile)
c.1151G>T (p.Ser384Ile)
18g.33744036C>ACA402190391ASXL3c.4191C>A (p.Ser1397Arg)
c.4188C>A (p.Ser1396Arg)
c.4068C>A (p.Ser1356Arg)
c.4164C>A (p.Ser1388Arg)
c.4110C>A (p.Ser1370Arg)
c.4071C>A (p.Ser1357Arg)
c.4020C>A (p.Ser1340Arg)
c.1152C>A (p.Ser384Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.33744036C=CA2294857958ASXL3c.4191C= (p.Ser1397=)
c.4188C= (p.Ser1396=)
c.4068C= (p.Ser1356=)
c.4164C= (p.Ser1388=)
c.4110C= (p.Ser1370=)
c.4071C= (p.Ser1357=)
c.4020C= (p.Ser1340=)
c.1152C= (p.Ser384=)
18g.33744036C>GCA402190392ASXL3c.4191C>G (p.Ser1397Arg)
c.4188C>G (p.Ser1396Arg)
c.4068C>G (p.Ser1356Arg)
c.4164C>G (p.Ser1388Arg)
c.4110C>G (p.Ser1370Arg)
c.4071C>G (p.Ser1357Arg)
c.4020C>G (p.Ser1340Arg)
c.1152C>G (p.Ser384Arg)
18g.33744036C>TCA503770142ASXL3c.4191C>T (p.Ser1397=)
c.4188C>T (p.Ser1396=)
c.4068C>T (p.Ser1356=)
c.4164C>T (p.Ser1388=)
c.4110C>T (p.Ser1370=)
c.4071C>T (p.Ser1357=)
c.4020C>T (p.Ser1340=)
c.1152C>T (p.Ser384=)
18g.33744037T>ACA402190393ASXL3c.4192T>A (p.Cys1398Ser)
c.4189T>A (p.Cys1397Ser)
c.4069T>A (p.Cys1357Ser)
c.4165T>A (p.Cys1389Ser)
c.4111T>A (p.Cys1371Ser)
c.4072T>A (p.Cys1358Ser)
c.4021T>A (p.Cys1341Ser)
c.1153T>A (p.Cys385Ser)
18g.33744037T>CCA402190394ASXL3c.4192T>C (p.Cys1398Arg)
c.4189T>C (p.Cys1397Arg)
c.4069T>C (p.Cys1357Arg)
c.4165T>C (p.Cys1389Arg)
c.4111T>C (p.Cys1371Arg)
c.4072T>C (p.Cys1358Arg)
c.4021T>C (p.Cys1341Arg)
c.1153T>C (p.Cys385Arg)
18g.33744037T>GCA402190395ASXL3c.4192T>G (p.Cys1398Gly)
c.4189T>G (p.Cys1397Gly)
c.4069T>G (p.Cys1357Gly)
c.4165T>G (p.Cys1389Gly)
c.4111T>G (p.Cys1371Gly)
c.4072T>G (p.Cys1358Gly)
c.4021T>G (p.Cys1341Gly)
c.1153T>G (p.Cys385Gly)
18g.33744038G>ACA402190398ASXL3c.4193G>A (p.Cys1398Tyr)
c.4190G>A (p.Cys1397Tyr)
c.4070G>A (p.Cys1357Tyr)
c.4166G>A (p.Cys1389Tyr)
c.4112G>A (p.Cys1371Tyr)
c.4073G>A (p.Cys1358Tyr)
c.4022G>A (p.Cys1341Tyr)
c.1154G>A (p.Cys385Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744038G>CCA402190396ASXL3c.4193G>C (p.Cys1398Ser)
c.4190G>C (p.Cys1397Ser)
c.4070G>C (p.Cys1357Ser)
c.4166G>C (p.Cys1389Ser)
c.4112G>C (p.Cys1371Ser)
c.4073G>C (p.Cys1358Ser)
c.4022G>C (p.Cys1341Ser)
c.1154G>C (p.Cys385Ser)
18g.33744038G=CA2294857959ASXL3c.4193G= (p.Cys1398=)
c.4190G= (p.Cys1397=)
c.4070G= (p.Cys1357=)
c.4166G= (p.Cys1389=)
c.4112G= (p.Cys1371=)
c.4073G= (p.Cys1358=)
c.4022G= (p.Cys1341=)
c.1154G= (p.Cys385=)
18g.33744038G>TCA402190397ASXL3c.4193G>T (p.Cys1398Phe)
c.4190G>T (p.Cys1397Phe)
c.4070G>T (p.Cys1357Phe)
c.4166G>T (p.Cys1389Phe)
c.4112G>T (p.Cys1371Phe)
c.4073G>T (p.Cys1358Phe)
c.4022G>T (p.Cys1341Phe)
c.1154G>T (p.Cys385Phe)
 gnomAD v4
18g.33744039C>ACA402190399ASXL3c.4194C>A (p.Cys1398Ter)
c.4191C>A (p.Cys1397Ter)
c.4071C>A (p.Cys1357Ter)
c.4167C>A (p.Cys1389Ter)
c.4113C>A (p.Cys1371Ter)
c.4074C>A (p.Cys1358Ter)
c.4023C>A (p.Cys1341Ter)
c.1155C>A (p.Cys385Ter)
18g.33744039C>GCA402190400ASXL3c.4194C>G (p.Cys1398Trp)
c.4191C>G (p.Cys1397Trp)
c.4071C>G (p.Cys1357Trp)
c.4167C>G (p.Cys1389Trp)
c.4113C>G (p.Cys1371Trp)
c.4074C>G (p.Cys1358Trp)
c.4023C>G (p.Cys1341Trp)
c.1155C>G (p.Cys385Trp)
18g.33744039C>TCA503770150ASXL3c.4194C>T (p.Cys1398=)
c.4191C>T (p.Cys1397=)
c.4071C>T (p.Cys1357=)
c.4167C>T (p.Cys1389=)
c.4113C>T (p.Cys1371=)
c.4074C>T (p.Cys1358=)
c.4023C>T (p.Cys1341=)
c.1155C>T (p.Cys385=)
18g.33744040A>CCA402190401ASXL3c.4195A>C (p.Ser1399Arg)
c.4192A>C (p.Ser1398Arg)
c.4072A>C (p.Ser1358Arg)
c.4168A>C (p.Ser1390Arg)
c.4114A>C (p.Ser1372Arg)
c.4075A>C (p.Ser1359Arg)
c.4024A>C (p.Ser1342Arg)
c.1156A>C (p.Ser386Arg)
18g.33744040A>GCA402190402ASXL3c.4195A>G (p.Ser1399Gly)
c.4192A>G (p.Ser1398Gly)
c.4072A>G (p.Ser1358Gly)
c.4168A>G (p.Ser1390Gly)
c.4114A>G (p.Ser1372Gly)
c.4075A>G (p.Ser1359Gly)
c.4024A>G (p.Ser1342Gly)
c.1156A>G (p.Ser386Gly)
18g.33744040A>TCA402190403ASXL3c.4195A>T (p.Ser1399Cys)
c.4192A>T (p.Ser1398Cys)
c.4072A>T (p.Ser1358Cys)
c.4168A>T (p.Ser1390Cys)
c.4114A>T (p.Ser1372Cys)
c.4075A>T (p.Ser1359Cys)
c.4024A>T (p.Ser1342Cys)
c.1156A>T (p.Ser386Cys)
18g.33744041G>ACA402190404ASXL3c.4196G>A (p.Ser1399Asn)
c.4193G>A (p.Ser1398Asn)
c.4073G>A (p.Ser1358Asn)
c.4169G>A (p.Ser1390Asn)
c.4115G>A (p.Ser1372Asn)
c.4076G>A (p.Ser1359Asn)
c.4025G>A (p.Ser1342Asn)
c.1157G>A (p.Ser386Asn)
18g.33744041G>CCA402190405ASXL3c.4196G>C (p.Ser1399Thr)
c.4193G>C (p.Ser1398Thr)
c.4073G>C (p.Ser1358Thr)
c.4169G>C (p.Ser1390Thr)
c.4115G>C (p.Ser1372Thr)
c.4076G>C (p.Ser1359Thr)
c.4025G>C (p.Ser1342Thr)
c.1157G>C (p.Ser386Thr)
18g.33744041G>TCA402190406ASXL3c.4196G>T (p.Ser1399Ile)
c.4193G>T (p.Ser1398Ile)
c.4073G>T (p.Ser1358Ile)
c.4169G>T (p.Ser1390Ile)
c.4115G>T (p.Ser1372Ile)
c.4076G>T (p.Ser1359Ile)
c.4025G>T (p.Ser1342Ile)
c.1157G>T (p.Ser386Ile)
18g.33744042T>ACA402190407ASXL3c.4197T>A (p.Ser1399Arg)
c.4194T>A (p.Ser1398Arg)
c.4074T>A (p.Ser1358Arg)
c.4170T>A (p.Ser1390Arg)
c.4116T>A (p.Ser1372Arg)
c.4077T>A (p.Ser1359Arg)
c.4026T>A (p.Ser1342Arg)
c.1158T>A (p.Ser386Arg)
18g.33744042T>CCA503770161ASXL3c.4197T>C (p.Ser1399=)
c.4194T>C (p.Ser1398=)
c.4074T>C (p.Ser1358=)
c.4170T>C (p.Ser1390=)
c.4116T>C (p.Ser1372=)
c.4077T>C (p.Ser1359=)
c.4026T>C (p.Ser1342=)
c.1158T>C (p.Ser386=)
18g.33744042T>GCA402190408ASXL3c.4197T>G (p.Ser1399Arg)
c.4194T>G (p.Ser1398Arg)
c.4074T>G (p.Ser1358Arg)
c.4170T>G (p.Ser1390Arg)
c.4116T>G (p.Ser1372Arg)
c.4077T>G (p.Ser1359Arg)
c.4026T>G (p.Ser1342Arg)
c.1158T>G (p.Ser386Arg)
18g.33744043G>ACA8934193ASXL3c.4198G>A (p.Asp1400Asn)
c.4195G>A (p.Asp1399Asn)
c.4075G>A (p.Asp1359Asn)
c.4171G>A (p.Asp1391Asn)
c.4117G>A (p.Asp1373Asn)
c.4078G>A (p.Asp1360Asn)
c.4027G>A (p.Asp1343Asn)
c.1159G>A (p.Asp387Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744043G>CCA402190410ASXL3c.4198G>C (p.Asp1400His)
c.4195G>C (p.Asp1399His)
c.4075G>C (p.Asp1359His)
c.4171G>C (p.Asp1391His)
c.4117G>C (p.Asp1373His)
c.4078G>C (p.Asp1360His)
c.4027G>C (p.Asp1343His)
c.1159G>C (p.Asp387His)
18g.33744043G=CA2294857960ASXL3c.4198G= (p.Asp1400=)
c.4195G= (p.Asp1399=)
c.4075G= (p.Asp1359=)
c.4171G= (p.Asp1391=)
c.4117G= (p.Asp1373=)
c.4078G= (p.Asp1360=)
c.4027G= (p.Asp1343=)
c.1159G= (p.Asp387=)
18g.33744043G>TCA402190409ASXL3c.4198G>T (p.Asp1400Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4075G>T (p.Asp1359Tyr)
c.4171G>T (p.Asp1391Tyr)
c.4117G>T (p.Asp1373Tyr)
c.4078G>T (p.Asp1360Tyr)
c.4027G>T (p.Asp1343Tyr)
c.1159G>T (p.Asp387Tyr)
18g.33744044A>CCA402190411ASXL3c.4199A>C (p.Asp1400Ala)
c.4196A>C (p.Asp1399Ala)
c.4076A>C (p.Asp1359Ala)
c.4172A>C (p.Asp1391Ala)
c.4118A>C (p.Asp1373Ala)
c.4079A>C (p.Asp1360Ala)
c.4028A>C (p.Asp1343Ala)
c.1160A>C (p.Asp387Ala)
18g.33744044A>GCA402190412ASXL3c.4199A>G (p.Asp1400Gly)
c.4196A>G (p.Asp1399Gly)
c.4076A>G (p.Asp1359Gly)
c.4172A>G (p.Asp1391Gly)
c.4118A>G (p.Asp1373Gly)
c.4079A>G (p.Asp1360Gly)
c.4028A>G (p.Asp1343Gly)
c.1160A>G (p.Asp387Gly)
18g.33744044A>TCA402190413ASXL3c.4199A>T (p.Asp1400Val)
c.4196A>T (p.Asp1399Val)
c.4076A>T (p.Asp1359Val)
c.4172A>T (p.Asp1391Val)
c.4118A>T (p.Asp1373Val)
c.4079A>T (p.Asp1360Val)
c.4028A>T (p.Asp1343Val)
c.1160A>T (p.Asp387Val)
18g.33744045T>ACA402190414ASXL3c.4200T>A (p.Asp1400Glu)
c.4197T>A (p.Asp1399Glu)
c.4077T>A (p.Asp1359Glu)
c.4173T>A (p.Asp1391Glu)
c.4119T>A (p.Asp1373Glu)
c.4080T>A (p.Asp1360Glu)
c.4029T>A (p.Asp1343Glu)
c.1161T>A (p.Asp387Glu)
18g.33744045T>CCA8934194ASXL3c.4200T>C (p.Asp1400=)
c.4197T>C (p.Asp1399=)
c.4077T>C (p.Asp1359=)
c.4173T>C (p.Asp1391=)
c.4119T>C (p.Asp1373=)
c.4080T>C (p.Asp1360=)
c.4029T>C (p.Asp1343=)
c.1161T>C (p.Asp387=)
 dbSNP ExAC gnomAD v2
18g.33744045T>GCA402190415ASXL3c.4200T>G (p.Asp1400Glu)
c.4197T>G (p.Asp1399Glu)
c.4077T>G (p.Asp1359Glu)
c.4173T>G (p.Asp1391Glu)
c.4119T>G (p.Asp1373Glu)
c.4080T>G (p.Asp1360Glu)
c.4029T>G (p.Asp1343Glu)
c.1161T>G (p.Asp387Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.33744045T=CA2294857961ASXL3c.4200T= (p.Asp1400=)
c.4197T= (p.Asp1399=)
c.4077T= (p.Asp1359=)
c.4173T= (p.Asp1391=)
c.4119T= (p.Asp1373=)
c.4080T= (p.Asp1360=)
c.4029T= (p.Asp1343=)
c.1161T= (p.Asp387=)
18g.33744046T>ACA402190416ASXL3c.4201T>A (p.Ser1401Thr)
c.4198T>A (p.Ser1400Thr)
c.4078T>A (p.Ser1360Thr)
c.4174T>A (p.Ser1392Thr)
c.4120T>A (p.Ser1374Thr)
c.4081T>A (p.Ser1361Thr)
c.4030T>A (p.Ser1344Thr)
c.1162T>A (p.Ser388Thr)
18g.33744046T>CCA402190417ASXL3c.4201T>C (p.Ser1401Pro)
c.4198T>C (p.Ser1400Pro)
c.4078T>C (p.Ser1360Pro)
c.4174T>C (p.Ser1392Pro)
c.4120T>C (p.Ser1374Pro)
c.4081T>C (p.Ser1361Pro)
c.4030T>C (p.Ser1344Pro)
c.1162T>C (p.Ser388Pro)
18g.33744046T>GCA8934195ASXL3c.4201T>G (p.Ser1401Ala)
c.4198T>G (p.Ser1400Ala)
c.4078T>G (p.Ser1360Ala)
c.4174T>G (p.Ser1392Ala)
c.4120T>G (p.Ser1374Ala)
c.4081T>G (p.Ser1361Ala)
c.4030T>G (p.Ser1344Ala)
c.1162T>G (p.Ser388Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744046T=CA2294857962ASXL3c.4201T= (p.Ser1401=)
c.4198T= (p.Ser1400=)
c.4078T= (p.Ser1360=)
c.4174T= (p.Ser1392=)
c.4120T= (p.Ser1374=)
c.4081T= (p.Ser1361=)
c.4030T= (p.Ser1344=)
c.1162T= (p.Ser388=)
18g.33744047C>ACA402190418ASXL3c.4202C>A (p.Ser1401Tyr)
c.4199C>A (p.Ser1400Tyr)
c.4079C>A (p.Ser1360Tyr)
c.4175C>A (p.Ser1392Tyr)
c.4121C>A (p.Ser1374Tyr)
c.4082C>A (p.Ser1361Tyr)
c.4031C>A (p.Ser1344Tyr)
c.1163C>A (p.Ser388Tyr)
18g.33744047C=CA2294857963ASXL3c.4202C= (p.Ser1401=)
c.4199C= (p.Ser1400=)
c.4079C= (p.Ser1360=)
c.4175C= (p.Ser1392=)
c.4121C= (p.Ser1374=)
c.4082C= (p.Ser1361=)
c.4031C= (p.Ser1344=)
c.1163C= (p.Ser388=)
18g.33744047C>GCA8934196ASXL3c.4202C>G (p.Ser1401Cys)
c.4199C>G (p.Ser1400Cys)
c.4079C>G (p.Ser1360Cys)
c.4175C>G (p.Ser1392Cys)
c.4121C>G (p.Ser1374Cys)
c.4082C>G (p.Ser1361Cys)
c.4031C>G (p.Ser1344Cys)
c.1163C>G (p.Ser388Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744047C>TCA297793434ASXL3c.4202C>T (p.Ser1401Phe)
c.4199C>T (p.Ser1400Phe)
c.4079C>T (p.Ser1360Phe)
c.4175C>T (p.Ser1392Phe)
c.4121C>T (p.Ser1374Phe)
c.4082C>T (p.Ser1361Phe)
c.4031C>T (p.Ser1344Phe)
c.1163C>T (p.Ser388Phe)
 dbSNP
18g.33744048_33744053delCA2576484146ASXL3c.4203_4208del (p.Val1402_Ala1403del)
c.4200_4205del (p.Val1401_Ala1402del)
c.4080_4085del (p.Val1361_Ala1362del)
c.4176_4181del (p.Val1393_Ala1394del)
c.4122_4127del (p.Val1375_Ala1376del)
c.4083_4088del (p.Val1362_Ala1363del)
c.4032_4037del (p.Val1345_Ala1346del)
c.1164_1169del (p.Val389_Ala390del)
 gnomAD v4
18g.33744048T>ACA503770179ASXL3c.4203T>A (p.Ser1401=)
c.4200T>A (p.Ser1400=)
c.4080T>A (p.Ser1360=)
c.4176T>A (p.Ser1392=)
c.4122T>A (p.Ser1374=)
c.4083T>A (p.Ser1361=)
c.4032T>A (p.Ser1344=)
c.1164T>A (p.Ser388=)
18g.33744048T>CCA297793438ASXL3c.4203T>C (p.Ser1401=)
c.4200T>C (p.Ser1400=)
c.4080T>C (p.Ser1360=)
c.4176T>C (p.Ser1392=)
c.4122T>C (p.Ser1374=)
c.4083T>C (p.Ser1361=)
c.4032T>C (p.Ser1344=)
c.1164T>C (p.Ser388=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744048T>GCA503770181ASXL3c.4203T>G (p.Ser1401=)
c.4200T>G (p.Ser1400=)
c.4080T>G (p.Ser1360=)
c.4176T>G (p.Ser1392=)
c.4122T>G (p.Ser1374=)
c.4083T>G (p.Ser1361=)
c.4032T>G (p.Ser1344=)
c.1164T>G (p.Ser388=)
18g.33744048T=CA2294857964ASXL3c.4203T= (p.Ser1401=)
c.4200T= (p.Ser1400=)
c.4080T= (p.Ser1360=)
c.4176T= (p.Ser1392=)
c.4122T= (p.Ser1374=)
c.4083T= (p.Ser1361=)
c.4032T= (p.Ser1344=)
c.1164T= (p.Ser388=)
18g.33744049G>ACA402190421ASXL3c.4204G>A (p.Val1402Ile)
c.4201G>A (p.Val1401Ile)
c.4081G>A (p.Val1361Ile)
c.4177G>A (p.Val1393Ile)
c.4123G>A (p.Val1375Ile)
c.4084G>A (p.Val1362Ile)
c.4033G>A (p.Val1345Ile)
c.1165G>A (p.Val389Ile)
18g.33744049G>CCA402190420ASXL3c.4204G>C (p.Val1402Leu)
c.4201G>C (p.Val1401Leu)
c.4081G>C (p.Val1361Leu)
c.4177G>C (p.Val1393Leu)
c.4123G>C (p.Val1375Leu)
c.4084G>C (p.Val1362Leu)
c.4033G>C (p.Val1345Leu)
c.1165G>C (p.Val389Leu)
 gnomAD v4
18g.33744049G=CA2294857965ASXL3c.4204G= (p.Val1402=)
c.4201G= (p.Val1401=)
c.4081G= (p.Val1361=)
c.4177G= (p.Val1393=)
c.4123G= (p.Val1375=)
c.4084G= (p.Val1362=)
c.4033G= (p.Val1345=)
c.1165G= (p.Val389=)
18g.33744049G>TCA402190419ASXL3c.4204G>T (p.Val1402Leu)
c.4201G>T (p.Val1401Leu)
c.4081G>T (p.Val1361Leu)
c.4177G>T (p.Val1393Leu)
c.4123G>T (p.Val1375Leu)
c.4084G>T (p.Val1362Leu)
c.4033G>T (p.Val1345Leu)
c.1165G>T (p.Val389Leu)
 dbSNP
18g.33744050T>ACA402190422ASXL3c.4205T>A (p.Val1402Glu)
c.4202T>A (p.Val1401Glu)
c.4082T>A (p.Val1361Glu)
c.4178T>A (p.Val1393Glu)
c.4124T>A (p.Val1375Glu)
c.4085T>A (p.Val1362Glu)
c.4034T>A (p.Val1345Glu)
c.1166T>A (p.Val389Glu)
18g.33744050T>CCA402190423ASXL3c.4205T>C (p.Val1402Ala)
c.4202T>C (p.Val1401Ala)
c.4082T>C (p.Val1361Ala)
c.4178T>C (p.Val1393Ala)
c.4124T>C (p.Val1375Ala)
c.4085T>C (p.Val1362Ala)
c.4034T>C (p.Val1345Ala)
c.1166T>C (p.Val389Ala)
 gnomAD v4
18g.33744050T>GCA402190424ASXL3c.4205T>G (p.Val1402Gly)
c.4202T>G (p.Val1401Gly)
c.4082T>G (p.Val1361Gly)
c.4178T>G (p.Val1393Gly)
c.4124T>G (p.Val1375Gly)
c.4085T>G (p.Val1362Gly)
c.4034T>G (p.Val1345Gly)
c.1166T>G (p.Val389Gly)
18g.33744051A=CA2294857966ASXL3c.4206A= (p.Val1402=)
c.4203A= (p.Val1401=)
c.4083A= (p.Val1361=)
c.4179A= (p.Val1393=)
c.4125A= (p.Val1375=)
c.4086A= (p.Val1362=)
c.4035A= (p.Val1345=)
c.1167A= (p.Val389=)
18g.33744051A>CCA503770189ASXL3c.4206A>C (p.Val1402=)
c.4203A>C (p.Val1401=)
c.4083A>C (p.Val1361=)
c.4179A>C (p.Val1393=)
c.4125A>C (p.Val1375=)
c.4086A>C (p.Val1362=)
c.4035A>C (p.Val1345=)
c.1167A>C (p.Val389=)
18g.33744051A>GCA8934197ASXL3c.4206A>G (p.Val1402=)
c.4203A>G (p.Val1401=)
c.4083A>G (p.Val1361=)
c.4179A>G (p.Val1393=)
c.4125A>G (p.Val1375=)
c.4086A>G (p.Val1362=)
c.4035A>G (p.Val1345=)
c.1167A>G (p.Val389=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744051A>TCA503770191ASXL3c.4206A>T (p.Val1402=)
c.4203A>T (p.Val1401=)
c.4083A>T (p.Val1361=)
c.4179A>T (p.Val1393=)
c.4125A>T (p.Val1375=)
c.4086A>T (p.Val1362=)
c.4035A>T (p.Val1345=)
c.1167A>T (p.Val389=)
18g.33744052G>ACA402190425ASXL3c.4207G>A (p.Ala1403Thr)
c.4204G>A (p.Ala1402Thr)
c.4084G>A (p.Ala1362Thr)
c.4180G>A (p.Ala1394Thr)
c.4126G>A (p.Ala1376Thr)
c.4087G>A (p.Ala1363Thr)
c.4036G>A (p.Ala1346Thr)
c.1168G>A (p.Ala390Thr)
 gnomAD v4
18g.33744052G>CCA402190426ASXL3c.4207G>C (p.Ala1403Pro)
c.4204G>C (p.Ala1402Pro)
c.4084G>C (p.Ala1362Pro)
c.4180G>C (p.Ala1394Pro)
c.4126G>C (p.Ala1376Pro)
c.4087G>C (p.Ala1363Pro)
c.4036G>C (p.Ala1346Pro)
c.1168G>C (p.Ala390Pro)
18g.33744052G=CA2294857967ASXL3c.4207G= (p.Ala1403=)
c.4204G= (p.Ala1402=)
c.4084G= (p.Ala1362=)
c.4180G= (p.Ala1394=)
c.4126G= (p.Ala1376=)
c.4087G= (p.Ala1363=)
c.4036G= (p.Ala1346=)
c.1168G= (p.Ala390=)
18g.33744052G>TCA402190427ASXL3c.4207G>T (p.Ala1403Ser)
c.4204G>T (p.Ala1402Ser)
c.4084G>T (p.Ala1362Ser)
c.4180G>T (p.Ala1394Ser)
c.4126G>T (p.Ala1376Ser)
c.4087G>T (p.Ala1363Ser)
c.4036G>T (p.Ala1346Ser)
c.1168G>T (p.Ala390Ser)
 dbSNP gnomAD v4
18g.33744053C>ACA402190428ASXL3c.4208C>A (p.Ala1403Glu)
c.4205C>A (p.Ala1402Glu)
c.4085C>A (p.Ala1362Glu)
c.4181C>A (p.Ala1394Glu)
c.4127C>A (p.Ala1376Glu)
c.4088C>A (p.Ala1363Glu)
c.4037C>A (p.Ala1346Glu)
c.1169C>A (p.Ala390Glu)
18g.33744053C=CA2294857968ASXL3c.4208C= (p.Ala1403=)
c.4205C= (p.Ala1402=)
c.4085C= (p.Ala1362=)
c.4181C= (p.Ala1394=)
c.4127C= (p.Ala1376=)
c.4088C= (p.Ala1363=)
c.4037C= (p.Ala1346=)
c.1169C= (p.Ala390=)
18g.33744053C>GCA402190429ASXL3c.4208C>G (p.Ala1403Gly)
c.4205C>G (p.Ala1402Gly)
c.4085C>G (p.Ala1362Gly)
c.4181C>G (p.Ala1394Gly)
c.4127C>G (p.Ala1376Gly)
c.4088C>G (p.Ala1363Gly)
c.4037C>G (p.Ala1346Gly)
c.1169C>G (p.Ala390Gly)
18g.33744053C>TCA8934198ASXL3c.4208C>T (p.Ala1403Val)
c.4205C>T (p.Ala1402Val)
c.4085C>T (p.Ala1362Val)
c.4181C>T (p.Ala1394Val)
c.4127C>T (p.Ala1376Val)
c.4088C>T (p.Ala1363Val)
c.4037C>T (p.Ala1346Val)
c.1169C>T (p.Ala390Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744054G>ACA8934199ASXL3c.4209G>A (p.Ala1403=)
c.4206G>A (p.Ala1402=)
c.4086G>A (p.Ala1362=)
c.4182G>A (p.Ala1394=)
c.4128G>A (p.Ala1376=)
c.4089G>A (p.Ala1363=)
c.4038G>A (p.Ala1346=)
c.1170G>A (p.Ala390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744054G>CCA503770203ASXL3c.4209G>C (p.Ala1403=)
c.4206G>C (p.Ala1402=)
c.4086G>C (p.Ala1362=)
c.4182G>C (p.Ala1394=)
c.4128G>C (p.Ala1376=)
c.4089G>C (p.Ala1363=)
c.4038G>C (p.Ala1346=)
c.1170G>C (p.Ala390=)
18g.33744054G=CA2294857969ASXL3c.4209G= (p.Ala1403=)
c.4206G= (p.Ala1402=)
c.4086G= (p.Ala1362=)
c.4182G= (p.Ala1394=)
c.4128G= (p.Ala1376=)
c.4089G= (p.Ala1363=)
c.4038G= (p.Ala1346=)
c.1170G= (p.Ala390=)
18g.33744054G>TCA8934200ASXL3c.4209G>T (p.Ala1403=)
c.4206G>T (p.Ala1402=)
c.4086G>T (p.Ala1362=)
c.4182G>T (p.Ala1394=)
c.4128G>T (p.Ala1376=)
c.4089G>T (p.Ala1363=)
c.4038G>T (p.Ala1346=)
c.1170G>T (p.Ala390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744055G>ACA402190432ASXL3c.4210G>A (p.Val1404Ile)
c.4207G>A (p.Val1403Ile)
c.4087G>A (p.Val1363Ile)
c.4183G>A (p.Val1395Ile)
c.4129G>A (p.Val1377Ile)
c.4090G>A (p.Val1364Ile)
c.4039G>A (p.Val1347Ile)
c.1171G>A (p.Val391Ile)
 gnomAD v4 COSMIC
18g.33744055G>CCA402190431ASXL3c.4210G>C (p.Val1404Leu)
c.4207G>C (p.Val1403Leu)
c.4087G>C (p.Val1363Leu)
c.4183G>C (p.Val1395Leu)
c.4129G>C (p.Val1377Leu)
c.4090G>C (p.Val1364Leu)
c.4039G>C (p.Val1347Leu)
c.1171G>C (p.Val391Leu)
18g.33744055G>TCA402190430ASXL3c.4210G>T (p.Val1404Phe)
c.4207G>T (p.Val1403Phe)
c.4087G>T (p.Val1363Phe)
c.4183G>T (p.Val1395Phe)
c.4129G>T (p.Val1377Phe)
c.4090G>T (p.Val1364Phe)
c.4039G>T (p.Val1347Phe)
c.1171G>T (p.Val391Phe)
18g.33744056T>ACA402190433ASXL3c.4211T>A (p.Val1404Asp)
c.4208T>A (p.Val1403Asp)
c.4088T>A (p.Val1363Asp)
c.4184T>A (p.Val1395Asp)
c.4130T>A (p.Val1377Asp)
c.4091T>A (p.Val1364Asp)
c.4040T>A (p.Val1347Asp)
c.1172T>A (p.Val391Asp)
18g.33744056T>CCA402190435ASXL3c.4211T>C (p.Val1404Ala)
c.4208T>C (p.Val1403Ala)
c.4088T>C (p.Val1363Ala)
c.4184T>C (p.Val1395Ala)
c.4130T>C (p.Val1377Ala)
c.4091T>C (p.Val1364Ala)
c.4040T>C (p.Val1347Ala)
c.1172T>C (p.Val391Ala)
18g.33744056T>GCA402190434ASXL3c.4211T>G (p.Val1404Gly)
c.4208T>G (p.Val1403Gly)
c.4088T>G (p.Val1363Gly)
c.4184T>G (p.Val1395Gly)
c.4130T>G (p.Val1377Gly)
c.4091T>G (p.Val1364Gly)
c.4040T>G (p.Val1347Gly)
c.1172T>G (p.Val391Gly)
18g.33744056_33744058delinsTCACA2294857970ASXL3c.4211_4213delinsTCA (p.Val1404=)
c.4208_4210delinsTCA (p.Val1403=)
c.4088_4090delinsTCA (p.Val1363=)
c.4184_4186delinsTCA (p.Val1395=)
c.4130_4132delinsTCA (p.Val1377=)
c.4091_4093delinsTCA (p.Val1364=)
c.4040_4042delinsTCA (p.Val1347=)
c.1172_1174delinsTCA (p.Val391=)
18g.33744057C>ACA503770216ASXL3c.4212C>A (p.Val1404=)
c.4209C>A (p.Val1403=)
c.4089C>A (p.Val1363=)
c.4185C>A (p.Val1395=)
c.4131C>A (p.Val1377=)
c.4092C>A (p.Val1364=)
c.4041C>A (p.Val1347=)
c.1173C>A (p.Val391=)
18g.33744057C=CA2294857971ASXL3c.4212C= (p.Val1404=)
c.4209C= (p.Val1403=)
c.4089C= (p.Val1363=)
c.4185C= (p.Val1395=)
c.4131C= (p.Val1377=)
c.4092C= (p.Val1364=)
c.4041C= (p.Val1347=)
c.1173C= (p.Val391=)
18g.33744057C>GCA503770217ASXL3c.4212C>G (p.Val1404=)
c.4209C>G (p.Val1403=)
c.4089C>G (p.Val1363=)
c.4185C>G (p.Val1395=)
c.4131C>G (p.Val1377=)
c.4092C>G (p.Val1364=)
c.4041C>G (p.Val1347=)
c.1173C>G (p.Val391=)
 dbSNP gnomAD v4
18g.33744057C>TCA503770215ASXL3c.4212C>T (p.Val1404=)
c.4209C>T (p.Val1403=)
c.4089C>T (p.Val1363=)
c.4185C>T (p.Val1395=)
c.4131C>T (p.Val1377=)
c.4092C>T (p.Val1364=)
c.4041C>T (p.Val1347=)
c.1173C>T (p.Val391=)
18g.33744059_33744060delCA658656736ASXL3c.4214_4215del (p.Thr1405ArgfsTer23)
c.4211_4212del (p.Thr1404ArgfsTer23)
c.4091_4092del (p.Thr1364ArgfsTer23)
c.4187_4188del (p.Thr1396ArgfsTer23)
c.4133_4134del (p.Thr1378ArgfsTer23)
c.4094_4095del (p.Thr1365ArgfsTer23)
c.4043_4044del (p.Thr1348ArgfsTer23)
c.1175_1176del (p.Thr392ArgfsTer23)
 ClinVar dbSNP
18g.33744058A>CCA402190436ASXL3c.4213A>C (p.Thr1405Pro)
c.4210A>C (p.Thr1404Pro)
c.4090A>C (p.Thr1364Pro)
c.4186A>C (p.Thr1396Pro)
c.4132A>C (p.Thr1378Pro)
c.4093A>C (p.Thr1365Pro)
c.4042A>C (p.Thr1348Pro)
c.1174A>C (p.Thr392Pro)
18g.33744058A>GCA402190437ASXL3c.4213A>G (p.Thr1405Ala)
c.4210A>G (p.Thr1404Ala)
c.4090A>G (p.Thr1364Ala)
c.4186A>G (p.Thr1396Ala)
c.4132A>G (p.Thr1378Ala)
c.4093A>G (p.Thr1365Ala)
c.4042A>G (p.Thr1348Ala)
c.1174A>G (p.Thr392Ala)
 gnomAD v4
18g.33744058A>TCA402190438ASXL3c.4213A>T (p.Thr1405Ser)
c.4210A>T (p.Thr1404Ser)
c.4090A>T (p.Thr1364Ser)
c.4186A>T (p.Thr1396Ser)
c.4132A>T (p.Thr1378Ser)
c.4093A>T (p.Thr1365Ser)
c.4042A>T (p.Thr1348Ser)
c.1174A>T (p.Thr392Ser)
18g.33744059C>ACA402190439ASXL3c.4214C>A (p.Thr1405Lys)
c.4211C>A (p.Thr1404Lys)
c.4091C>A (p.Thr1364Lys)
c.4187C>A (p.Thr1396Lys)
c.4133C>A (p.Thr1378Lys)
c.4094C>A (p.Thr1365Lys)
c.4043C>A (p.Thr1348Lys)
c.1175C>A (p.Thr392Lys)
18g.33744059C=CA2294857972ASXL3c.4214C= (p.Thr1405=)
c.4211C= (p.Thr1404=)
c.4091C= (p.Thr1364=)
c.4187C= (p.Thr1396=)
c.4133C= (p.Thr1378=)
c.4094C= (p.Thr1365=)
c.4043C= (p.Thr1348=)
c.1175C= (p.Thr392=)
18g.33744059C>GCA8934201ASXL3c.4214C>G (p.Thr1405Arg)
c.4211C>G (p.Thr1404Arg)
c.4091C>G (p.Thr1364Arg)
c.4187C>G (p.Thr1396Arg)
c.4133C>G (p.Thr1378Arg)
c.4094C>G (p.Thr1365Arg)
c.4043C>G (p.Thr1348Arg)
c.1175C>G (p.Thr392Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744059C>TCA297793455ASXL3c.4214C>T (p.Thr1405Ile)
c.4211C>T (p.Thr1404Ile)
c.4091C>T (p.Thr1364Ile)
c.4187C>T (p.Thr1396Ile)
c.4133C>T (p.Thr1378Ile)
c.4094C>T (p.Thr1365Ile)
c.4043C>T (p.Thr1348Ile)
c.1175C>T (p.Thr392Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33744060A>CCA503770228ASXL3c.4215A>C (p.Thr1405=)
c.4212A>C (p.Thr1404=)
c.4092A>C (p.Thr1364=)
c.4188A>C (p.Thr1396=)
c.4134A>C (p.Thr1378=)
c.4095A>C (p.Thr1365=)
c.4044A>C (p.Thr1348=)
c.1176A>C (p.Thr392=)
18g.33744060A>GCA503770227ASXL3c.4215A>G (p.Thr1405=)
c.4212A>G (p.Thr1404=)
c.4092A>G (p.Thr1364=)
c.4188A>G (p.Thr1396=)
c.4134A>G (p.Thr1378=)
c.4095A>G (p.Thr1365=)
c.4044A>G (p.Thr1348=)
c.1176A>G (p.Thr392=)
18g.33744060A>TCA503770226ASXL3c.4215A>T (p.Thr1405=)
c.4212A>T (p.Thr1404=)
c.4092A>T (p.Thr1364=)
c.4188A>T (p.Thr1396=)
c.4134A>T (p.Thr1378=)
c.4095A>T (p.Thr1365=)
c.4044A>T (p.Thr1348=)
c.1176A>T (p.Thr392=)
18g.33744061G>ACA402190440ASXL3c.4216G>A (p.Asp1406Asn)
c.4213G>A (p.Asp1405Asn)
c.4093G>A (p.Asp1365Asn)
c.4189G>A (p.Asp1397Asn)
c.4135G>A (p.Asp1379Asn)
c.4096G>A (p.Asp1366Asn)
c.4045G>A (p.Asp1349Asn)
c.1177G>A (p.Asp393Asn)
18g.33744061G>CCA402190441ASXL3c.4216G>C (p.Asp1406His)
c.4213G>C (p.Asp1405His)
c.4093G>C (p.Asp1365His)
c.4189G>C (p.Asp1397His)
c.4135G>C (p.Asp1379His)
c.4096G>C (p.Asp1366His)
c.4045G>C (p.Asp1349His)
c.1177G>C (p.Asp393His)
 gnomAD v4
18g.33744061G>TCA402190442ASXL3c.4216G>T (p.Asp1406Tyr)
c.4213G>T (p.Asp1405Tyr)
c.4093G>T (p.Asp1365Tyr)
c.4189G>T (p.Asp1397Tyr)
c.4135G>T (p.Asp1379Tyr)
c.4096G>T (p.Asp1366Tyr)
c.4045G>T (p.Asp1349Tyr)
c.1177G>T (p.Asp393Tyr)
18g.33744062A>CCA402190443ASXL3c.4217A>C (p.Asp1406Ala)
c.4214A>C (p.Asp1405Ala)
c.4094A>C (p.Asp1365Ala)
c.4190A>C (p.Asp1397Ala)
c.4136A>C (p.Asp1379Ala)
c.4097A>C (p.Asp1366Ala)
c.4046A>C (p.Asp1349Ala)
c.1178A>C (p.Asp393Ala)
18g.33744062A>GCA402190444ASXL3c.4217A>G (p.Asp1406Gly)
c.4214A>G (p.Asp1405Gly)
c.4094A>G (p.Asp1365Gly)
c.4190A>G (p.Asp1397Gly)
c.4136A>G (p.Asp1379Gly)
c.4097A>G (p.Asp1366Gly)
c.4046A>G (p.Asp1349Gly)
c.1178A>G (p.Asp393Gly)
18g.33744062A>TCA402190445ASXL3c.4217A>T (p.Asp1406Val)
c.4214A>T (p.Asp1405Val)
c.4094A>T (p.Asp1365Val)
c.4190A>T (p.Asp1397Val)
c.4136A>T (p.Asp1379Val)
c.4097A>T (p.Asp1366Val)
c.4046A>T (p.Asp1349Val)
c.1178A>T (p.Asp393Val)
18g.33744062_33744064delinsACTCA2294857973ASXL3c.4217_4219delinsACT (p.Asp1406=)
c.4214_4216delinsACT (p.Asp1405=)
c.4094_4096delinsACT (p.Asp1365=)
c.4190_4192delinsACT (p.Asp1397=)
c.4136_4138delinsACT (p.Asp1379=)
c.4097_4099delinsACT (p.Asp1366=)
c.4046_4048delinsACT (p.Asp1349=)
c.1178_1180delinsACT (p.Asp393=)
18g.33744063C>ACA402190446ASXL3c.4218C>A (p.Asp1406Glu)
c.4215C>A (p.Asp1405Glu)
c.4095C>A (p.Asp1365Glu)
c.4191C>A (p.Asp1397Glu)
c.4137C>A (p.Asp1379Glu)
c.4098C>A (p.Asp1366Glu)
c.4047C>A (p.Asp1349Glu)
c.1179C>A (p.Asp393Glu)
18g.33744063C=CA2294857974ASXL3c.4218C= (p.Asp1406=)
c.4215C= (p.Asp1405=)
c.4095C= (p.Asp1365=)
c.4191C= (p.Asp1397=)
c.4137C= (p.Asp1379=)
c.4098C= (p.Asp1366=)
c.4047C= (p.Asp1349=)
c.1179C= (p.Asp393=)
18g.33744063C>GCA402190447ASXL3c.4218C>G (p.Asp1406Glu)
c.4215C>G (p.Asp1405Glu)
c.4095C>G (p.Asp1365Glu)
c.4191C>G (p.Asp1397Glu)
c.4137C>G (p.Asp1379Glu)
c.4098C>G (p.Asp1366Glu)
c.4047C>G (p.Asp1349Glu)
c.1179C>G (p.Asp393Glu)
 dbSNP COSMIC
18g.33744063C>TCA503770236ASXL3c.4218C>T (p.Asp1406=)
c.4215C>T (p.Asp1405=)
c.4095C>T (p.Asp1365=)
c.4191C>T (p.Asp1397=)
c.4137C>T (p.Asp1379=)
c.4098C>T (p.Asp1366=)
c.4047C>T (p.Asp1349=)
c.1179C>T (p.Asp393=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744067_33744068delCA658799034ASXL3c.4222_4223del (p.Leu1408GlyfsTer20)
c.4219_4220del (p.Leu1407GlyfsTer20)
c.4099_4100del (p.Leu1367GlyfsTer20)
c.4195_4196del (p.Leu1399GlyfsTer20)
c.4141_4142del (p.Leu1381GlyfsTer20)
c.4102_4103del (p.Leu1368GlyfsTer20)
c.4051_4052del (p.Leu1351GlyfsTer20)
c.1183_1184del (p.Leu395GlyfsTer20)
 ClinVar dbSNP
18g.33744064T>ACA8934202ASXL3c.4219T>A (p.Ser1407Thr)
c.4216T>A (p.Ser1406Thr)
c.4096T>A (p.Ser1366Thr)
c.4192T>A (p.Ser1398Thr)
c.4138T>A (p.Ser1380Thr)
c.4099T>A (p.Ser1367Thr)
c.4048T>A (p.Ser1350Thr)
c.1180T>A (p.Ser394Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744064T>CCA402190448ASXL3c.4219T>C (p.Ser1407Pro)
c.4216T>C (p.Ser1406Pro)
c.4096T>C (p.Ser1366Pro)
c.4192T>C (p.Ser1398Pro)
c.4138T>C (p.Ser1380Pro)
c.4099T>C (p.Ser1367Pro)
c.4048T>C (p.Ser1350Pro)
c.1180T>C (p.Ser394Pro)
 dbSNP
18g.33744064T>GCA402190449ASXL3c.4219T>G (p.Ser1407Ala)
c.4216T>G (p.Ser1406Ala)
c.4096T>G (p.Ser1366Ala)
c.4192T>G (p.Ser1398Ala)
c.4138T>G (p.Ser1380Ala)
c.4099T>G (p.Ser1367Ala)
c.4048T>G (p.Ser1350Ala)
c.1180T>G (p.Ser394Ala)
18g.33744064T=CA2294857975ASXL3c.4219T= (p.Ser1407=)
c.4216T= (p.Ser1406=)
c.4096T= (p.Ser1366=)
c.4192T= (p.Ser1398=)
c.4138T= (p.Ser1380=)
c.4099T= (p.Ser1367=)
c.4048T= (p.Ser1350=)
c.1180T= (p.Ser394=)
18g.33744065C>ACA402190450ASXL3c.4220C>A (p.Ser1407Tyr)
c.4217C>A (p.Ser1406Tyr)
c.4097C>A (p.Ser1366Tyr)
c.4193C>A (p.Ser1398Tyr)
c.4139C>A (p.Ser1380Tyr)
c.4100C>A (p.Ser1367Tyr)
c.4049C>A (p.Ser1350Tyr)
c.1181C>A (p.Ser394Tyr)
18g.33744065C=CA2294857976ASXL3c.4220C= (p.Ser1407=)
c.4217C= (p.Ser1406=)
c.4097C= (p.Ser1366=)
c.4193C= (p.Ser1398=)
c.4139C= (p.Ser1380=)
c.4100C= (p.Ser1367=)
c.4049C= (p.Ser1350=)
c.1181C= (p.Ser394=)
18g.33744065C>GCA402190451ASXL3c.4220C>G (p.Ser1407Cys)
c.4217C>G (p.Ser1406Cys)
c.4097C>G (p.Ser1366Cys)
c.4193C>G (p.Ser1398Cys)
c.4139C>G (p.Ser1380Cys)
c.4100C>G (p.Ser1367Cys)
c.4049C>G (p.Ser1350Cys)
c.1181C>G (p.Ser394Cys)
18g.33744065C>TCA8934203ASXL3c.4220C>T (p.Ser1407Phe)
c.4217C>T (p.Ser1406Phe)
c.4097C>T (p.Ser1366Phe)
c.4193C>T (p.Ser1398Phe)
c.4139C>T (p.Ser1380Phe)
c.4100C>T (p.Ser1367Phe)
c.4049C>T (p.Ser1350Phe)
c.1181C>T (p.Ser394Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744066T>ACA503770245ASXL3c.4221T>A (p.Ser1407=)
c.4218T>A (p.Ser1406=)
c.4098T>A (p.Ser1366=)
c.4194T>A (p.Ser1398=)
c.4140T>A (p.Ser1380=)
c.4101T>A (p.Ser1367=)
c.4050T>A (p.Ser1350=)
c.1182T>A (p.Ser394=)
18g.33744066T>CCA503770248ASXL3c.4221T>C (p.Ser1407=)
c.4218T>C (p.Ser1406=)
c.4098T>C (p.Ser1366=)
c.4194T>C (p.Ser1398=)
c.4140T>C (p.Ser1380=)
c.4101T>C (p.Ser1367=)
c.4050T>C (p.Ser1350=)
c.1182T>C (p.Ser394=)
18g.33744066T>GCA503770249ASXL3c.4221T>G (p.Ser1407=)
c.4218T>G (p.Ser1406=)
c.4098T>G (p.Ser1366=)
c.4194T>G (p.Ser1398=)
c.4140T>G (p.Ser1380=)
c.4101T>G (p.Ser1367=)
c.4050T>G (p.Ser1350=)
c.1182T>G (p.Ser394=)
18g.33744067C>ACA402190452ASXL3c.4222C>A (p.Leu1408Met)
c.4219C>A (p.Leu1407Met)
c.4099C>A (p.Leu1367Met)
c.4195C>A (p.Leu1399Met)
c.4141C>A (p.Leu1381Met)
c.4102C>A (p.Leu1368Met)
c.4051C>A (p.Leu1351Met)
c.1183C>A (p.Leu395Met)
 gnomAD v4
18g.33744067C=CA2294857977ASXL3c.4222C= (p.Leu1408=)
c.4219C= (p.Leu1407=)
c.4099C= (p.Leu1367=)
c.4195C= (p.Leu1399=)
c.4141C= (p.Leu1381=)
c.4102C= (p.Leu1368=)
c.4051C= (p.Leu1351=)
c.1183C= (p.Leu395=)
18g.33744067C>GCA402190453ASXL3c.4222C>G (p.Leu1408Val)
c.4219C>G (p.Leu1407Val)
c.4099C>G (p.Leu1367Val)
c.4195C>G (p.Leu1399Val)
c.4141C>G (p.Leu1381Val)
c.4102C>G (p.Leu1368Val)
c.4051C>G (p.Leu1351Val)
c.1183C>G (p.Leu395Val)
 dbSNP gnomAD v2 gnomAD v4
18g.33744067C>TCA503770257ASXL3c.4222C>T (p.Leu1408=)
c.4219C>T (p.Leu1407=)
c.4099C>T (p.Leu1367=)
c.4195C>T (p.Leu1399=)
c.4141C>T (p.Leu1381=)
c.4102C>T (p.Leu1368=)
c.4051C>T (p.Leu1351=)
c.1183C>T (p.Leu395=)
 dbSNP gnomAD v4
18g.33744068T>ACA402190454ASXL3c.4223T>A (p.Leu1408Gln)
c.4220T>A (p.Leu1407Gln)
c.4100T>A (p.Leu1367Gln)
c.4196T>A (p.Leu1399Gln)
c.4142T>A (p.Leu1381Gln)
c.4103T>A (p.Leu1368Gln)
c.4052T>A (p.Leu1351Gln)
c.1184T>A (p.Leu395Gln)
18g.33744068T>CCA402190455ASXL3c.4223T>C (p.Leu1408Pro)
c.4220T>C (p.Leu1407Pro)
c.4100T>C (p.Leu1367Pro)
c.4196T>C (p.Leu1399Pro)
c.4142T>C (p.Leu1381Pro)
c.4103T>C (p.Leu1368Pro)
c.4052T>C (p.Leu1351Pro)
c.1184T>C (p.Leu395Pro)
18g.33744068T>GCA402190456ASXL3c.4223T>G (p.Leu1408Arg)
c.4220T>G (p.Leu1407Arg)
c.4100T>G (p.Leu1367Arg)
c.4196T>G (p.Leu1399Arg)
c.4142T>G (p.Leu1381Arg)
c.4103T>G (p.Leu1368Arg)
c.4052T>G (p.Leu1351Arg)
c.1184T>G (p.Leu395Arg)
18g.33744069G>ACA503770262ASXL3c.4224G>A (p.Leu1408=)
c.4221G>A (p.Leu1407=)
c.4101G>A (p.Leu1367=)
c.4197G>A (p.Leu1399=)
c.4143G>A (p.Leu1381=)
c.4104G>A (p.Leu1368=)
c.4053G>A (p.Leu1351=)
c.1185G>A (p.Leu395=)
 gnomAD v4
18g.33744069G>CCA503770263ASXL3c.4224G>C (p.Leu1408=)
c.4221G>C (p.Leu1407=)
c.4101G>C (p.Leu1367=)
c.4197G>C (p.Leu1399=)
c.4143G>C (p.Leu1381=)
c.4104G>C (p.Leu1368=)
c.4053G>C (p.Leu1351=)
c.1185G>C (p.Leu395=)
 gnomAD v4
18g.33744069G>TCA503770264ASXL3c.4224G>T (p.Leu1408=)
c.4221G>T (p.Leu1407=)
c.4101G>T (p.Leu1367=)
c.4197G>T (p.Leu1399=)
c.4143G>T (p.Leu1381=)
c.4104G>T (p.Leu1368=)
c.4053G>T (p.Leu1351=)
c.1185G>T (p.Leu395=)
18g.33744070G>ACA402190458ASXL3c.4225G>A (p.Val1409Ile)
c.4222G>A (p.Val1408Ile)
c.4102G>A (p.Val1368Ile)
c.4198G>A (p.Val1400Ile)
c.4144G>A (p.Val1382Ile)
c.4105G>A (p.Val1369Ile)
c.4054G>A (p.Val1352Ile)
c.1186G>A (p.Val396Ile)
18g.33744070G>CCA402190459ASXL3c.4225G>C (p.Val1409Leu)
c.4222G>C (p.Val1408Leu)
c.4102G>C (p.Val1368Leu)
c.4198G>C (p.Val1400Leu)
c.4144G>C (p.Val1382Leu)
c.4105G>C (p.Val1369Leu)
c.4054G>C (p.Val1352Leu)
c.1186G>C (p.Val396Leu)
18g.33744070G>TCA402190457ASXL3c.4225G>T (p.Val1409Phe)
c.4222G>T (p.Val1408Phe)
c.4102G>T (p.Val1368Phe)
c.4198G>T (p.Val1400Phe)
c.4144G>T (p.Val1382Phe)
c.4105G>T (p.Val1369Phe)
c.4054G>T (p.Val1352Phe)
c.1186G>T (p.Val396Phe)
18g.33744071T>ACA402190460ASXL3c.4226T>A (p.Val1409Asp)
c.4223T>A (p.Val1408Asp)
c.4103T>A (p.Val1368Asp)
c.4199T>A (p.Val1400Asp)
c.4145T>A (p.Val1382Asp)
c.4106T>A (p.Val1369Asp)
c.4055T>A (p.Val1352Asp)
c.1187T>A (p.Val396Asp)
18g.33744071T>CCA402190461ASXL3c.4226T>C (p.Val1409Ala)
c.4223T>C (p.Val1408Ala)
c.4103T>C (p.Val1368Ala)
c.4199T>C (p.Val1400Ala)
c.4145T>C (p.Val1382Ala)
c.4106T>C (p.Val1369Ala)
c.4055T>C (p.Val1352Ala)
c.1187T>C (p.Val396Ala)
18g.33744071T>GCA402190462ASXL3c.4226T>G (p.Val1409Gly)
c.4223T>G (p.Val1408Gly)
c.4103T>G (p.Val1368Gly)
c.4199T>G (p.Val1400Gly)
c.4145T>G (p.Val1382Gly)
c.4106T>G (p.Val1369Gly)
c.4055T>G (p.Val1352Gly)
c.1187T>G (p.Val396Gly)
18g.33744072T>ACA297793467ASXL3c.4227T>A (p.Val1409=)
c.4224T>A (p.Val1408=)
c.4104T>A (p.Val1368=)
c.4200T>A (p.Val1400=)
c.4146T>A (p.Val1382=)
c.4107T>A (p.Val1369=)
c.4056T>A (p.Val1352=)
c.1188T>A (p.Val396=)
 dbSNP gnomAD v4
18g.33744072T>CCA503770274ASXL3c.4227T>C (p.Val1409=)
c.4224T>C (p.Val1408=)
c.4104T>C (p.Val1368=)
c.4200T>C (p.Val1400=)
c.4146T>C (p.Val1382=)
c.4107T>C (p.Val1369=)
c.4056T>C (p.Val1352=)
c.1188T>C (p.Val396=)
 dbSNP gnomAD v2 gnomAD v4
18g.33744072T>GCA503770275ASXL3c.4227T>G (p.Val1409=)
c.4224T>G (p.Val1408=)
c.4104T>G (p.Val1368=)
c.4200T>G (p.Val1400=)
c.4146T>G (p.Val1382=)
c.4107T>G (p.Val1369=)
c.4056T>G (p.Val1352=)
c.1188T>G (p.Val396=)
18g.33744072T=CA2294857978ASXL3c.4227T= (p.Val1409=)
c.4224T= (p.Val1408=)
c.4104T= (p.Val1368=)
c.4200T= (p.Val1400=)
c.4146T= (p.Val1382=)
c.4107T= (p.Val1369=)
c.4056T= (p.Val1352=)
c.1188T= (p.Val396=)
18g.33744073G>ACA402190463ASXL3c.4228G>A (p.Ala1410Thr)
c.4225G>A (p.Ala1409Thr)
c.4105G>A (p.Ala1369Thr)
c.4201G>A (p.Ala1401Thr)
c.4147G>A (p.Ala1383Thr)
c.4108G>A (p.Ala1370Thr)
c.4057G>A (p.Ala1353Thr)
c.1189G>A (p.Ala397Thr)
18g.33744073G>CCA402190464ASXL3c.4228G>C (p.Ala1410Pro)
c.4225G>C (p.Ala1409Pro)
c.4105G>C (p.Ala1369Pro)
c.4201G>C (p.Ala1401Pro)
c.4147G>C (p.Ala1383Pro)
c.4108G>C (p.Ala1370Pro)
c.4057G>C (p.Ala1353Pro)
c.1189G>C (p.Ala397Pro)
18g.33744073G>TCA402190465ASXL3c.4228G>T (p.Ala1410Ser)
c.4225G>T (p.Ala1409Ser)
c.4105G>T (p.Ala1369Ser)
c.4201G>T (p.Ala1401Ser)
c.4147G>T (p.Ala1383Ser)
c.4108G>T (p.Ala1370Ser)
c.4057G>T (p.Ala1353Ser)
c.1189G>T (p.Ala397Ser)
18g.33744074C>ACA402190466ASXL3c.4229C>A (p.Ala1410Glu)
c.4226C>A (p.Ala1409Glu)
c.4106C>A (p.Ala1369Glu)
c.4202C>A (p.Ala1401Glu)
c.4148C>A (p.Ala1383Glu)
c.4109C>A (p.Ala1370Glu)
c.4058C>A (p.Ala1353Glu)
c.1190C>A (p.Ala397Glu)
18g.33744074C>GCA402190467ASXL3c.4229C>G (p.Ala1410Gly)
c.4226C>G (p.Ala1409Gly)
c.4106C>G (p.Ala1369Gly)
c.4202C>G (p.Ala1401Gly)
c.4148C>G (p.Ala1383Gly)
c.4109C>G (p.Ala1370Gly)
c.4058C>G (p.Ala1353Gly)
c.1190C>G (p.Ala397Gly)
18g.33744074C>TCA402190468ASXL3c.4229C>T (p.Ala1410Val)
c.4226C>T (p.Ala1409Val)
c.4106C>T (p.Ala1369Val)
c.4202C>T (p.Ala1401Val)
c.4148C>T (p.Ala1383Val)
c.4109C>T (p.Ala1370Val)
c.4058C>T (p.Ala1353Val)
c.1190C>T (p.Ala397Val)
 gnomAD v4
18g.33744075A=CA2294857979ASXL3c.4230A= (p.Ala1410=)
c.4227A= (p.Ala1409=)
c.4107A= (p.Ala1369=)
c.4203A= (p.Ala1401=)
c.4149A= (p.Ala1383=)
c.4110A= (p.Ala1370=)
c.4059A= (p.Ala1353=)
c.1191A= (p.Ala397=)
18g.33744075A>CCA503770281ASXL3c.4230A>C (p.Ala1410=)
c.4227A>C (p.Ala1409=)
c.4107A>C (p.Ala1369=)
c.4203A>C (p.Ala1401=)
c.4149A>C (p.Ala1383=)
c.4110A>C (p.Ala1370=)
c.4059A>C (p.Ala1353=)
c.1191A>C (p.Ala397=)
 dbSNP
18g.33744075A>GCA8934204ASXL3c.4230A>G (p.Ala1410=)
c.4227A>G (p.Ala1409=)
c.4107A>G (p.Ala1369=)
c.4203A>G (p.Ala1401=)
c.4149A>G (p.Ala1383=)
c.4110A>G (p.Ala1370=)
c.4059A>G (p.Ala1353=)
c.1191A>G (p.Ala397=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744075A>TCA503770282ASXL3c.4230A>T (p.Ala1410=)
c.4227A>T (p.Ala1409=)
c.4107A>T (p.Ala1369=)
c.4203A>T (p.Ala1401=)
c.4149A>T (p.Ala1383=)
c.4110A>T (p.Ala1370=)
c.4059A>T (p.Ala1353=)
c.1191A>T (p.Ala397=)
18g.33744076C>ACA402190469ASXL3c.4231C>A (p.His1411Asn)
c.4228C>A (p.His1410Asn)
c.4108C>A (p.His1370Asn)
c.4204C>A (p.His1402Asn)
c.4150C>A (p.His1384Asn)
c.4111C>A (p.His1371Asn)
c.4060C>A (p.His1354Asn)
c.1192C>A (p.His398Asn)
18g.33744076C=CA2294857980ASXL3c.4231C= (p.His1411=)
c.4228C= (p.His1410=)
c.4108C= (p.His1370=)
c.4204C= (p.His1402=)
c.4150C= (p.His1384=)
c.4111C= (p.His1371=)
c.4060C= (p.His1354=)
c.1192C= (p.His398=)
18g.33744076C>GCA402190470ASXL3c.4231C>G (p.His1411Asp)
c.4228C>G (p.His1410Asp)
c.4108C>G (p.His1370Asp)
c.4204C>G (p.His1402Asp)
c.4150C>G (p.His1384Asp)
c.4111C>G (p.His1371Asp)
c.4060C>G (p.His1354Asp)
c.1192C>G (p.His398Asp)
18g.33744076C>TCA8934205ASXL3c.4231C>T (p.His1411Tyr)
c.4228C>T (p.His1410Tyr)
c.4108C>T (p.His1370Tyr)
c.4204C>T (p.His1402Tyr)
c.4150C>T (p.His1384Tyr)
c.4111C>T (p.His1371Tyr)
c.4060C>T (p.His1354Tyr)
c.1192C>T (p.His398Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched